Q9NVE4
PR
Gene name |
CCDC87 |
Protein name |
Coiled-coil domain-containing protein 87 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:55231 |
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 Q9NVE4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9NVE4-F1 | Predicted | AlphaFoldDB |
770 variants for Q9NVE4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1267093871 CA381431327 |
3 | E>* | No |
ClinGen gnomAD |
|
|
CA381431325 rs1221648033 |
3 | E>A | No |
ClinGen gnomAD |
|
|
CA381431309 rs1446690159 |
4 | P>H | No |
ClinGen gnomAD |
|
|
rs1446690159 CA381431305 |
4 | P>L | No |
ClinGen gnomAD |
|
|
CA6126239 rs763107147 |
4 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA6126238 rs775696534 |
5 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6126236 rs746251047 |
6 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA6126237 rs770101981 |
6 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs372009413 CA6126235 |
7 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372009413 CA224053712 |
7 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760126314 CA224053703 |
8 | E>K | No |
ClinGen Ensembl |
|
|
CA6126232 rs777399099 |
10 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA6126233 rs746496853 |
10 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA381431226 rs757993628 |
11 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757993628 CA6126231 |
11 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs921333676 CA224053679 |
12 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs778731964 CA6126230 |
12 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA6126228 rs754798846 |
13 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6126226 rs753708100 |
16 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs766222979 CA381431153 |
17 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1041453914 CA224053650 |
17 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs766222979 CA6126225 |
17 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6126224 rs756138526 |
20 | R>P | No |
ClinGen ExAC |
|
|
rs750345118 CA6126223 |
21 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6126221 rs763055203 |
23 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759785775 CA6126218 |
25 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA224053608 rs865913084 |
29 | T>M | No |
ClinGen Ensembl |
|
|
CA6126215 rs761185674 |
31 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA381430985 rs1387090337 |
32 | P>A | No |
ClinGen gnomAD |
|
|
rs773858158 CA6126214 |
35 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868616442 CA224053567 |
37 | R>H | No |
ClinGen Ensembl |
|
|
CA224053563 rs950560733 |
38 | P>A | No |
ClinGen TOPMed |
|
|
CA381430905 rs1389513879 |
38 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs920409985 CA224053542 |
39 | P>A | No |
ClinGen gnomAD |
|
|
CA381430899 rs200871346 |
39 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6126212 rs200871346 |
39 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs756825207 | 39 | P>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs920409985 CA381430900 |
39 | P>S | No |
ClinGen gnomAD |
|
|
rs1220288132 CA381430882 |
40 | Q>H | No |
ClinGen gnomAD |
|
|
CA6126208 rs768490903 |
40 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381430875 rs1489728364 |
41 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs749023439 CA6126207 |
42 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs755870174 CA224053485 |
43 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6126205 rs755870174 |
43 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1476897064 CA381430833 |
45 | L>M | No |
ClinGen TOPMed |
|
|
rs781127005 CA6126203 |
45 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA381430777 rs1041915209 |
49 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA224053448 rs1041915209 |
49 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA381430780 rs1424562568 |
49 | P>S | No |
ClinGen TOPMed |
|
|
CA381430764 rs1590826446 |
50 | L>Q | No |
ClinGen Ensembl |
|
|
CA381430753 rs1303798076 |
51 | A>G | No |
ClinGen gnomAD |
|
|
rs1353837136 CA381430741 |
52 | K>R | No |
ClinGen gnomAD |
|
|
rs1168310665 CA381430715 |
54 | T>M | No |
ClinGen gnomAD |
|
|
CA224053445 rs946205685 |
55 | V>L | No |
ClinGen TOPMed |
|
|
rs765436279 CA6126199 |
56 | A>T | No |
ClinGen ExAC TOPMed |
|
|
CA381430670 rs1190428365 |
59 | C>R | No |
ClinGen gnomAD |
|
|
CA381430637 rs1270646191 |
61 | Q>* | No |
ClinGen gnomAD |
|
|
CA381430629 rs1222552358 |
61 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA381430624 rs759859325 |
62 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA6126198 rs759859325 |
62 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA381430608 rs1207164980 |
63 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs142353912 CA6126197 |
64 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1300963665 CA381430580 |
65 | L>P | No |
ClinGen gnomAD |
|
|
CA224053409 rs1014340190 |
65 | L>V | No |
ClinGen gnomAD |
|
|
CA6126195 rs760976469 |
67 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6126192 rs761403969 |
68 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381430553 rs761403969 |
68 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6126191 rs774063829 |
69 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs912465560 CA224053375 |
69 | S>N | No |
ClinGen TOPMed |
|
|
CA381430545 rs774063829 |
69 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA381430532 rs1215955522 |
70 | G>R | No |
ClinGen TOPMed |
|
|
CA381430523 rs1463416903 |
70 | G>V | No |
ClinGen gnomAD |
|
|
COSM4165917 rs368797364 CA6126189 |
72 | A>T | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs779606742 CA6126188 |
73 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1473342312 CA381430475 |
74 | G>* | No |
ClinGen TOPMed |
|
|
CA6126185 rs758279543 |
75 | V>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1590826356 CA381430457 |
75 | V>G | No |
ClinGen Ensembl |
|
|
CA381430453 rs1247737378 |
76 | P>A | No |
ClinGen gnomAD |
|
|
rs951298348 CA224053353 |
77 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA6126184 rs745696193 |
78 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757248706 CA6126182 |
79 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs755017754 CA6126179 |
80 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA6126180 rs755017754 |
80 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1263986173 CA381430393 |
81 | L>V | No |
ClinGen gnomAD |
|
|
rs754049542 CA6126178 |
82 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs754049542 CA381430384 |
82 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1196566674 CA381430371 |
83 | L>F | No |
ClinGen gnomAD |
|
|
rs761071119 CA6126177 |
85 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761071119 CA6126176 |
85 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1309183671 CA381430320 |
87 | I>V | No |
ClinGen gnomAD |
|
|
CA381430292 rs1392075356 |
89 | D>A | No |
ClinGen gnomAD |
|
|
rs1336063397 CA381430286 |
90 | E>K | No |
ClinGen gnomAD |
|
|
CA224053320 rs564852028 |
91 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6126173 rs150176794 |
94 | S>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs150176794 CA6126174 |
94 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6126172 rs775006700 |
95 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775006700 CA224053297 |
95 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6126171 rs763623346 |
96 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381430185 rs1419206131 |
97 | E>G | No |
ClinGen gnomAD |
|
|
COSM1475789 rs762394264 CA6126170 |
97 | E>K | lung Variant assessed as Somatic; 0.0 impact. breast [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1243059154 CA381430167 |
98 | P>L | No |
ClinGen gnomAD |
|
|
rs1243059154 CA381430168 |
98 | P>R | No |
ClinGen gnomAD |
|
|
rs1565320783 CA381430154 |
99 | P>L | No |
ClinGen Ensembl |
|
|
CA381430136 rs1002857887 |
101 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs907495341 CA224053285 |
101 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA6126168 rs1002857887 |
101 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA381430138 rs1002857887 |
101 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA381430115 rs1352120606 |
102 | L>R | No |
ClinGen gnomAD |
|
|
rs1263020138 CA381430095 |
104 | L>V | No |
ClinGen gnomAD |
|
|
CA6126167 rs775189445 |
105 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs769369017 CA6126166 |
106 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs550209025 CA6126164 |
106 | H>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs550209025 CA6126165 |
106 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA381430030 rs1255774392 |
109 | N>H | No |
ClinGen TOPMed |
|
|
rs770725502 CA6126163 |
109 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs530433678 CA381429965 |
113 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6126161 rs530433678 |
113 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1384939933 CA381429933 |
116 | L>F | No |
ClinGen gnomAD |
|
|
CA381429916 rs878919764 |
117 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA224053256 rs878919764 |
117 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs780321060 CA6126159 |
118 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 118 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780321060 CA6126158 |
118 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756349522 CA6126157 |
119 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6126156 rs145549774 |
120 | V>G | No |
ClinGen ESP ExAC gnomAD |
|
|
COSM259993 rs1010455946 CA224053248 |
120 | V>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA381429846 rs1446930512 |
121 | L>V | No |
ClinGen gnomAD |
|
|
rs767930731 CA6126155 |
122 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6126154 rs757731836 |
123 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA381429777 rs752066055 |
124 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6126152 COSM930812 rs764561779 |
125 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs762491237 CA381429748 |
126 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs762491237 CA6126151 |
126 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA381429734 rs1490250502 |
126 | Q>H | No |
ClinGen gnomAD |
|
|
rs774926602 CA6126150 |
127 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA381429684 rs1315708615 |
129 | L>* | No |
ClinGen gnomAD |
|
|
CA224053167 rs140452825 |
130 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140452825 CA6126146 |
130 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs546096509 CA6126145 |
130 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773177875 CA6126143 |
132 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773177875 CA381429619 |
132 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746827364 CA6126144 |
132 | L>V | No |
ClinGen ExAC |
|
|
CA381429594 rs1426059479 |
134 | L>Q | No |
ClinGen gnomAD |
|
|
rs1300709507 CA381429599 |
134 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6126140 rs138577027 |
136 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA381429577 rs1167911354 |
136 | V>M | No |
ClinGen gnomAD |
|
|
CA381429565 rs1480212306 |
137 | T>N | No |
ClinGen gnomAD |
|
|
rs1194379222 CA381429570 |
137 | T>S | No |
ClinGen gnomAD |
|
|
CA381429559 rs1240542285 |
138 | M>V | No |
ClinGen TOPMed |
|
|
rs1224791816 CA381429539 |
139 | S>W | No |
ClinGen gnomAD |
|
|
CA381429517 rs1565320675 |
141 | P>L | No |
ClinGen Ensembl |
|
|
CA6126137 rs374478878 |
141 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6126136 rs757676657 |
142 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA381429511 rs757676657 |
142 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA224053099 rs546067186 |
144 | V>F | No |
ClinGen 1000Genomes gnomAD |
|
| rs755024739 | 144 | V>S | Variant assessed as Somatic; 4.758e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381429473 rs1344450888 |
145 | F>V | No |
ClinGen gnomAD |
|
|
CA6126132 rs758883041 |
146 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381429447 rs1406238310 |
147 | E>* | No |
ClinGen gnomAD |
|
|
CA381429441 rs1345521531 |
147 | E>V | No |
ClinGen gnomAD |
|
|
rs753258358 CA6126131 |
150 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs150149433 CA381429376 |
153 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150149433 CA6126129 |
153 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150149433 CA381429375 |
153 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764584208 CA6126130 |
153 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753437521 CA6126128 |
155 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1110707 VAR_056782 CA6126127 |
156 | A>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs151064106 CA6126125 |
158 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1232317952 CA381429314 |
159 | A>P | No |
ClinGen gnomAD |
|
|
rs969880517 CA224053030 |
159 | A>V | No |
ClinGen Ensembl |
|
|
rs761589010 CA381429293 |
161 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs761589010 CA6126123 |
161 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6126122 rs370432829 |
162 | C>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6126121 rs370432829 |
162 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1199022054 CA381429273 |
162 | C>S | No |
ClinGen gnomAD |
|
|
CA6126120 rs745995805 |
163 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA6126119 rs781536350 |
165 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA381429229 rs1317565247 |
166 | L>F | No |
ClinGen TOPMed |
|
|
CA381429216 rs1278408241 |
167 | T>A | No |
ClinGen gnomAD |
|
|
rs1199643664 CA381429214 |
167 | T>S | No |
ClinGen TOPMed |
|
|
CA381429199 rs1253506352 |
168 | S>T | No |
ClinGen TOPMed |
|
|
rs747383629 CA6126116 |
170 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA6126115 rs777937456 |
171 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753104546 CA6126113 |
172 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 173 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM689882 rs1267365194 CA381429131 |
173 | R>L | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA6126111 rs76910333 |
177 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs766003568 CA6126109 |
181 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381428372 rs1205362136 |
185 | A>T | No |
ClinGen gnomAD |
|
|
CA6126106 rs767177309 |
186 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1565320553 CA381428345 |
187 | Q>E | No |
ClinGen Ensembl |
|
|
CA381428299 rs1221563756 |
190 | G>W | No |
ClinGen gnomAD |
|
|
rs768476858 CA6126104 |
191 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA381428248 rs1245812888 |
194 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs574904032 CA6126103 |
194 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA224052925 rs372682665 |
196 | H>L | No |
ClinGen Ensembl |
|
|
rs1339061372 CA381428211 |
196 | H>Q | No |
ClinGen gnomAD |
|
|
rs780155949 CA224052917 |
197 | P>A | No |
ClinGen Ensembl |
|
|
rs759687487 CA6126102 |
197 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs568214022 CA224052875 |
198 | V>A | No |
ClinGen TOPMed |
|
|
CA224052879 rs568214022 |
198 | V>D | No |
ClinGen TOPMed |
|
|
rs1391495754 CA381428195 |
198 | V>I | No |
ClinGen TOPMed |
|
|
CA6126100 rs776905672 |
199 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA6126099 rs771146081 |
199 | C>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 200 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1276443243 CA381428161 |
200 | P>R | No |
ClinGen TOPMed |
|
|
CA381428165 rs1565320513 |
200 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA224052844 rs141535876 |
201 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA381428153 rs1163029104 |
201 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA381428157 rs1163029104 |
201 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs141535876 CA6126098 |
201 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1185181070 CA381428051 |
208 | P>R | No |
ClinGen gnomAD |
|
|
CA224052820 rs1020248305 |
208 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 209 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1241155512 CA381428042 |
209 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6126096 rs772275388 |
209 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6126094 rs779360543 |
210 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs748593019 CA6126095 |
210 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA6126093 rs755538055 |
211 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA6126092 rs754357470 |
213 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 214 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6126091 rs779474431 |
215 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs755683473 CA381427947 |
216 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs755683473 CA6126090 |
216 | G>V | No |
ClinGen ExAC gnomAD |
|
|
VAR_033224 CA224052784 rs17853294 |
217 | F>L | No |
ClinGen UniProt dbSNP gnomAD |
|
|
rs188685970 CA6126089 |
218 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1261923998 CA381427912 |
219 | Q>* | No |
ClinGen TOPMed |
|
|
CA381427898 rs1433094431 |
220 | V>L | No |
ClinGen gnomAD |
|
|
rs1477905935 CA381427885 |
221 | Q>* | No |
ClinGen TOPMed |
|
|
rs767252116 CA6126088 |
221 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA6126087 rs756976292 |
222 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1411300044 CA381427820 |
225 | L>R | No |
ClinGen TOPMed |
|
|
rs1590825932 CA381427828 |
225 | L>V | No |
ClinGen Ensembl |
|
|
CA224052767 rs997425258 |
226 | N>S | No |
ClinGen Ensembl |
|
|
rs558926916 CA224052740 |
228 | N>S | No |
ClinGen 1000Genomes |
|
|
CA6126086 rs751470912 |
229 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA6126085 rs147889901 |
230 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762921984 CA6126084 |
233 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381427748 rs762921984 |
233 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1418459018 CA381427736 |
234 | S>C | No |
ClinGen gnomAD |
|
|
CA381427722 rs1184585963 |
235 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1184585963 CA381427721 |
235 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA6126083 rs373078402 |
235 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA381427719 rs1184585963 |
235 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs183896760 CA6126082 |
236 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6126081 rs760829152 |
236 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA381427698 rs1489676557 |
237 | P>A | No |
ClinGen gnomAD |
|
|
rs556454265 CA6126080 |
238 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA224052693 rs867624554 |
241 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs376232930 CA6126078 |
243 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381427589 rs1282950001 |
244 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs748456915 CA6126077 |
245 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs769013983 CA6126075 |
252 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381427457 rs1488345353 |
253 | K>M | No |
ClinGen TOPMed |
|
|
CA6126073 rs780562668 |
255 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA381427423 rs1235354567 |
256 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 257 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6126072 rs548250985 |
257 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs780284264 CA6126071 |
258 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA381427337 rs1423889864 |
262 | K>R | No |
ClinGen gnomAD |
|
|
CA6126070 rs780708702 |
263 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA381427312 rs1482754720 |
264 | F>L | No |
ClinGen TOPMed |
|
|
CA381427269 rs756995987 CA6126069 |
266 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6126068 rs751266637 |
268 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA224052650 rs931269126 |
268 | P>L | No |
ClinGen Ensembl |
|
|
rs763910776 CA6126067 |
269 | S>A | No |
ClinGen ExAC |
|
|
CA381427245 rs763910776 |
269 | S>P | No |
ClinGen ExAC |
|
|
CA381427233 CA6126065 rs752631966 |
270 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA6126063 rs760640773 |
270 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs765267350 CA6126064 |
270 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752631966 CA6126066 |
270 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1262918836 CA381427202 |
272 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA381427175 rs1565320380 |
274 | R>T | No |
ClinGen Ensembl |
|
|
CA6126061 rs767508357 |
275 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1420415767 CA381427166 |
275 | E>G | No |
ClinGen TOPMed |
|
|
rs1372500490 CA381427155 |
276 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1037624256 CA224052633 |
276 | I>V | No |
ClinGen gnomAD |
|
|
CA224052629 rs943750561 |
277 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA381427147 rs1357619729 |
277 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs774589996 CA6126059 |
279 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6126058 rs768961190 |
280 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1303721385 CA381427080 |
281 | S>L | No |
ClinGen TOPMed |
|
|
rs915734754 CA224052621 |
282 | Q>P | No |
ClinGen Ensembl |
|
|
CA381427045 rs1379044314 |
283 | M>I | No |
ClinGen gnomAD |
|
|
rs1445150015 CA381427052 |
283 | M>K | No |
ClinGen TOPMed |
|
|
CA6126057 rs144906506 |
283 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381427033 rs1355099181 |
284 | V>A | No |
ClinGen TOPMed |
|
|
rs1176127547 CA381427041 |
284 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA6126056 rs141059944 COSM930810 |
285 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
CA6126055 rs770403475 |
288 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1242868499 CA381426987 |
288 | S>I | No |
ClinGen gnomAD |
|
|
rs1462801117 CA381426967 |
289 | Y>* | No |
ClinGen gnomAD |
|
|
CA381426979 rs1202205157 |
289 | Y>H | No |
ClinGen gnomAD |
|
|
CA6126054 rs745361299 |
291 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 292 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381426942 rs756722434 |
293 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1275969067 CA381426939 |
293 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA6126052 rs756722434 |
293 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6126049 rs758244646 |
297 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA381426915 rs758244646 |
297 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA381426906 rs1403883179 COSM544759 |
298 | S>F | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA381426908 rs1403883179 |
298 | S>Y | No |
ClinGen gnomAD |
|
|
rs752578641 CA6126048 |
299 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs368118677 CA224052589 |
300 | S>L | No |
ClinGen TOPMed gnomAD |
|
| rs1452616058 | 300 | S>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6126046 rs368879587 |
303 | C>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs778712229 CA6126047 |
303 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA6126045 rs753725382 |
304 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA381426859 rs1177886712 |
306 | L>H | No |
ClinGen TOPMed |
|
|
CA381426858 rs1177886712 |
306 | L>P | No |
ClinGen TOPMed |
|
|
CA6126043 rs761906517 |
307 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs767595414 CA6126044 |
307 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1565320304 CA381426852 |
308 | R>G | No |
ClinGen Ensembl |
|
|
rs1262527627 CA381426851 |
308 | R>K | No |
ClinGen gnomAD |
|
|
rs977061562 CA224052553 |
309 | G>A | No |
ClinGen gnomAD |
|
|
CA381426831 rs1354295891 |
311 | S>P | No |
ClinGen gnomAD |
|
|
rs764343536 CA6126041 |
312 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6126042 rs144321364 |
312 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6126040 rs763305808 |
313 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1565320287 CA381426810 |
314 | S>F | No |
ClinGen Ensembl |
|
|
CA6126039 rs775985262 |
315 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs770071878 CA6126037 |
316 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760018365 CA6126036 |
316 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1365495027 CA381426799 |
317 | E>* | No |
ClinGen gnomAD |
|
| TCGA novel | 317 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777031703 CA6126035 |
317 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA381426791 rs534458205 |
318 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6126033 rs534458205 |
318 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs771916766 CA6126030 |
319 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777534955 CA6126031 |
319 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA6126029 rs375046198 |
322 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 322 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778702969 CA6126028 |
326 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs754761194 CA6126027 |
327 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs753761522 CA6126026 |
328 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1358412505 CA381426686 |
328 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6126025 rs779905794 |
330 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1324299316 CA381426657 |
331 | P>S | No |
ClinGen gnomAD |
|
|
rs757299843 CA6126024 |
333 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs150996648 CA6126023 |
333 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1272501313 CA381426620 |
334 | P>S | No |
ClinGen TOPMed |
|
|
rs1272501313 CA381426623 |
334 | P>T | No |
ClinGen TOPMed |
|
|
CA6126022 rs764290717 |
335 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6126021 rs763107129 |
336 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA381426594 rs763107129 |
336 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs971474224 CA224052480 |
337 | P>L | No |
ClinGen TOPMed |
|
|
rs1392130327 CA381426584 |
337 | P>S | No |
ClinGen gnomAD |
|
|
rs771604055 CA6126016 |
339 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381426515 rs1266804771 |
343 | E>K | No |
ClinGen gnomAD |
|
|
rs1201138475 CA381426487 |
344 | S>R | No |
ClinGen gnomAD |
|
|
CA6126015 rs139489472 |
346 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 346 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs150538178 CA224052433 |
347 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381426422 rs1194999825 |
349 | T>I | No |
ClinGen gnomAD |
|
|
CA6126012 rs747797538 |
350 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA6126013 rs771720516 |
350 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA6126010 rs768477307 |
351 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA381426405 rs1438043955 |
352 | I>N | No |
ClinGen gnomAD |
|
|
rs1008372278 CA224052399 |
352 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6126008 rs780039959 |
353 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381426384 rs1412073230 |
354 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1390171456 CA381426364 |
355 | E>D | No |
ClinGen gnomAD |
|
|
CA381426346 rs1402839863 |
357 | L>M | No |
ClinGen gnomAD |
|
|
CA224052392 rs778179008 |
364 | M>L | No |
ClinGen Ensembl |
|
|
rs1469450542 CA381426217 |
366 | L>W | No |
ClinGen gnomAD |
|
|
CA381426185 rs1590825579 |
369 | T>P | No |
ClinGen Ensembl |
|
|
CA6126006 rs111997006 |
370 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs777766804 CA381426165 COSM1200068 |
370 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs777766804 CA6126005 |
370 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369805771 CA6126004 |
371 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381426154 rs1590825568 |
371 | Y>S | No |
ClinGen Ensembl |
|
|
rs1278529593 CA381426122 |
373 | P>S | No |
ClinGen TOPMed |
|
|
rs755335832 CA6126001 |
375 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1289023518 CA381426009 |
378 | L>R | No |
ClinGen TOPMed |
|
|
CA381426013 rs1207947632 |
378 | L>V | No |
ClinGen TOPMed |
|
|
rs766979684 CA6125999 |
379 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381426001 rs1565320140 |
379 | P>S | No |
ClinGen Ensembl |
|
|
rs773886806 CA6125997 |
381 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA6125998 rs761206869 |
381 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA381425924 rs1271227957 |
384 | V>I | No |
ClinGen TOPMed |
|
| TCGA novel | 384 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 385 | V>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA224052368 rs898490727 |
387 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA6125996 rs767088192 |
387 | R>H | No |
ClinGen ExAC |
|
|
CA6125995 rs761280214 |
389 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6125994 rs374330821 |
390 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1310416483 CA381425797 |
391 | A>T | No |
ClinGen gnomAD |
|
|
CA6125992 rs137881283 |
393 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6125991 rs374929199 |
394 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs199906600 CA6125990 |
394 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6125989 rs199906600 |
394 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1443846706 CA381425582 |
403 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA381425563 rs1590825485 |
404 | N>T | No |
ClinGen Ensembl |
|
|
CA381425551 rs1242313924 |
405 | L>F | No |
ClinGen TOPMed |
|
|
CA381425553 rs1242313924 |
405 | L>V | No |
ClinGen TOPMed |
|
|
CA381425516 rs1211722527 |
406 | Q>H | No |
ClinGen gnomAD |
|
|
rs748214053 CA6125986 |
406 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1282896574 CA381425471 |
409 | E>* | No |
ClinGen gnomAD |
|
| TCGA novel | 411 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6125985 rs779190045 |
411 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs201117269 CA6125984 |
413 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA381425392 rs1590825464 |
415 | D>A | No |
ClinGen Ensembl |
|
|
CA381425391 CA224052269 rs879082571 |
415 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA381425380 rs1245696169 |
416 | P>L | No |
ClinGen gnomAD |
|
|
CA224052260 rs927132168 |
417 | Q>P | No |
ClinGen TOPMed |
|
|
CA6125982 rs141833535 |
418 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6125981 rs141833535 |
418 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs371746457 CA381425332 |
419 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371746457 CA6125980 |
419 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA381425340 rs1347839336 |
419 | P>S | No |
ClinGen gnomAD |
|
|
rs1316283959 CA381425312 |
420 | K>I | No |
ClinGen gnomAD |
|
|
CA381425294 rs1377905182 |
421 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA381425304 rs1421660520 |
421 | S>T | No |
ClinGen gnomAD |
|
|
CA6125977 rs768180205 |
422 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148278836 CA6125976 |
423 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1321849526 CA381425274 |
423 | P>T | No |
ClinGen gnomAD |
|
|
rs773793192 CA6125975 |
424 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1366309897 CA381425201 |
425 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1590825407 CA381425192 |
425 | H>P | No |
ClinGen Ensembl |
|
|
CA6125974 rs763676422 |
426 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs775158538 CA6125972 |
429 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs775158538 CA381425125 |
429 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs977138145 CA224052234 |
430 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs913311758 CA224052231 |
432 | T>N | No |
ClinGen TOPMed |
|
|
CA6125971 rs769525293 |
435 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA6125970 rs745708026 |
436 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs776515690 CA6125969 |
438 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs367671433 CA6125967 |
439 | V>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA224052201 rs143106957 |
439 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs367671433 CA381424943 |
439 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6125968 rs143106957 |
439 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA381424934 rs1238397115 |
440 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1338967654 CA381424903 |
442 | Q>* | No |
ClinGen gnomAD |
|
|
CA6125964 rs749472686 |
442 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA381424886 rs780473418 |
443 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6125963 rs780473418 |
443 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1198953801 CA381424869 |
444 | A>V | No |
ClinGen TOPMed |
|
|
rs370489699 CA6125960 |
446 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6125957 rs765956457 |
447 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6125958 rs765956457 |
447 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6125959 rs377376167 |
447 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1590825346 CA381424829 |
448 | V>G | No |
ClinGen Ensembl |
|
|
CA381424800 rs1590825344 |
451 | R>G | No |
ClinGen Ensembl |
|
|
rs764907584 CA6125955 |
453 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 454 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381424717 rs1590825337 |
456 | S>C | No |
ClinGen Ensembl |
|
|
CA6125950 rs776465296 |
459 | I>M | No |
ClinGen ExAC |
|
|
CA6125951 rs759319157 |
459 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6125948 rs556418445 |
460 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA381424662 rs1307212136 |
460 | E>D | No |
ClinGen gnomAD |
|
|
CA6125947 rs760461232 |
462 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6125944 rs749421239 |
463 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1391964523 CA381424630 |
466 | Y>C | No |
ClinGen TOPMed |
|
|
rs1295290277 CA381424626 |
467 | N>D | No |
ClinGen gnomAD |
|
|
CA224052100 rs567481594 |
468 | H>Y | No |
ClinGen Ensembl |
|
|
CA6125941 rs149088581 |
469 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1352979141 CA381424598 |
471 | G>D | No |
ClinGen gnomAD |
|
|
CA6125937 rs138056551 |
473 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1284880126 CA381424586 |
473 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6125936 rs778389835 |
475 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1256631745 CA381424572 |
475 | P>S | No |
ClinGen TOPMed |
|
|
rs1565319894 CA381424561 |
477 | A>T | No |
ClinGen Ensembl |
|
|
rs755765185 CA6125934 |
478 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1431014502 CA381424530 |
478 | I>V | No |
ClinGen gnomAD |
|
|
rs1365257839 CA381424524 |
479 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA224052069 rs1056936915 COSM3810148 |
481 | M>I | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
| rs1251984014 | 481 | M>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750141639 CA6125933 |
481 | M>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 481 | M>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1480604332 CA381424475 |
482 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1236687660 CA381424457 |
483 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA381424446 rs1273992643 |
484 | D>N | No |
ClinGen gnomAD |
|
|
rs372285398 CA6125932 |
487 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1200963624 CA381424401 |
487 | V>L | No |
ClinGen gnomAD |
|
|
rs903016163 CA224052067 |
490 | T>S | No |
ClinGen Ensembl |
|
|
rs759129000 CA6125931 |
491 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM544760 CA381424329 rs1041476035 |
494 | V>F | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA224052063 rs1041476035 |
494 | V>I | No |
ClinGen gnomAD |
|
|
rs753492468 CA6125930 |
497 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1306776633 CA381424224 |
501 | H>R | No |
ClinGen gnomAD |
|
|
CA6125929 rs766047380 |
502 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs565595374 CA6125927 |
504 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs772116285 CA6125926 |
505 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA224052042 rs947138341 |
506 | H>D | No |
ClinGen Ensembl |
|
|
rs1439587205 CA381424174 |
507 | L>F | No |
ClinGen gnomAD |
|
|
CA381424180 rs1176194366 |
507 | L>S | No |
ClinGen gnomAD |
|
|
rs763113685 CA6125924 |
508 | H>D | No |
ClinGen ExAC TOPMed |
|
|
rs763113685 CA381424172 |
508 | H>Y | No |
ClinGen ExAC TOPMed |
|
|
CA6125923 rs775655299 |
510 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770002210 CA6125922 |
511 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA6125920 rs776938671 |
514 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs771173697 CA6125919 |
515 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs376754440 CA6125918 |
516 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA224052012 rs905758342 |
517 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs778135888 CA6125917 |
517 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA381475106 rs1385131850 |
519 | A>G | No |
ClinGen TOPMed |
|
|
rs1352878197 CA381475110 |
519 | A>T | No |
ClinGen gnomAD |
|
|
CA6125915 rs748665254 |
520 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs758959276 CA6125916 |
520 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA6125914 rs778325831 |
522 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA381475077 rs1311768538 |
522 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA224102266 rs1046013501 |
524 | S>L | No |
ClinGen TOPMed |
|
|
CA6125913 rs754513838 |
524 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1307304056 CA381475039 |
525 | T>S | No |
ClinGen TOPMed |
|
|
rs1228738809 CA381475027 |
526 | F>L | No |
ClinGen TOPMed |
|
|
CA381474989 rs1420856907 |
529 | S>* | No |
ClinGen gnomAD |
|
|
rs1590825135 CA381474974 |
531 | F>L | No |
ClinGen Ensembl |
|
|
CA381474967 rs1253569299 |
531 | F>S | No |
ClinGen TOPMed |
|
|
CA381474958 rs1185910550 |
532 | L>V | No |
ClinGen gnomAD |
|
|
CA6125909 rs750291738 |
533 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6125907 rs144214514 |
533 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs144214514 CA6125908 |
533 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs75894827 CA224102200 |
534 | Q>K | No |
ClinGen Ensembl |
|
|
CA6125906 rs774464915 |
536 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766999856 CA224102170 |
537 | Q>* | No |
ClinGen TOPMed gnomAD |
|
| rs1053211654 | 537 | Q>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs538810937 CA6125905 |
538 | P>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs538810937 CA6125904 |
538 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA381474866 rs1218640862 |
539 | Q>H | No |
ClinGen gnomAD |
|
|
rs1264603504 CA381474841 |
541 | I>T | No |
ClinGen gnomAD |
|
|
CA224102155 rs141677810 |
541 | I>V | No |
ClinGen ESP TOPMed |
|
|
CA6125902 rs372124178 |
542 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6125901 rs147873342 |
545 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1366286350 CA381474784 |
546 | V>G | No |
ClinGen TOPMed |
|
|
CA6125899 rs772431906 |
547 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA6125896 rs754462026 |
549 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA6125897 rs779419216 |
549 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 550 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381474729 CA6125894 rs146402060 |
551 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748895472 CA6125895 |
551 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 552 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750045561 CA6125892 |
554 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6125891 rs767378361 |
555 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs751516131 CA6125889 |
556 | L>S | No |
ClinGen ExAC |
|
|
rs757137007 CA6125890 |
556 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 558 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759533299 CA6125886 |
559 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs761279986 CA224102043 |
563 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA381474586 rs1194524981 |
563 | M>V | No |
ClinGen gnomAD |
|
|
rs766384701 CA6125884 |
565 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA381474533 rs1207840154 |
567 | P>A | No |
ClinGen gnomAD |
|
|
rs772380053 CA6125881 |
568 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1565319711 CA381474473 |
572 | T>I | No |
ClinGen Ensembl |
|
|
rs1565319705 CA381474452 |
574 | S>N | No |
ClinGen Ensembl |
|
|
rs148498944 CA6125879 |
575 | W>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA381474385 rs1279509284 |
579 | S>P | No |
ClinGen gnomAD |
|
|
rs763972438 CA224101994 |
582 | A>S | No |
ClinGen Ensembl |
|
|
CA381474320 rs1331025922 |
584 | L>F | No |
ClinGen gnomAD |
|
|
rs1322071188 CA381474305 |
585 | M>I | No |
ClinGen gnomAD |
|
|
rs1213957074 CA381474268 |
588 | W>* | No |
ClinGen TOPMed |
|
|
CA6125876 rs769208396 |
588 | W>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 588 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1565319679 CA381474237 |
590 | T>I | No |
ClinGen Ensembl |
|
|
rs1242143470 CA381474204 |
593 | S>A | No |
ClinGen gnomAD |
|
|
CA6125873 rs779547079 |
593 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA6125874 rs779547079 |
593 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA381474197 rs1241133777 |
594 | V>M | No |
ClinGen TOPMed |
|
|
CA6125872 rs769215657 |
595 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA381474191 rs1188042239 |
595 | D>N | No |
ClinGen TOPMed |
|
|
rs745473243 CA6125871 |
597 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs950922694 CA224101953 |
599 | K>R | No |
ClinGen TOPMed |
|
|
CA381474069 rs1426589685 |
604 | H>R | No |
ClinGen TOPMed |
|
|
CA6125867 rs777843674 |
605 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1156988360 CA381474059 |
605 | E>K | No |
ClinGen TOPMed |
|
|
CA6125866 rs151116563 |
608 | F>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA224101897 rs993952246 |
609 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1565319624 CA381473986 |
611 | V>D | No |
ClinGen Ensembl |
|
|
rs368959015 CA6125865 |
612 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1016640790 CA224101884 |
613 | F>L | No |
ClinGen TOPMed |
|
|
rs1272593372 CA381473970 |
614 | Q>E | No |
ClinGen gnomAD |
|
|
rs530058048 CA6125864 |
614 | Q>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs530058048 CA381473968 |
614 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6125862 rs750623090 |
615 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA381473953 rs1445102600 |
616 | H>R | No |
ClinGen gnomAD |
|
|
rs199664191 CA6125861 |
616 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs762152279 CA6125860 |
617 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 619 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1400098555 CA381473913 |
622 | V>L | No |
ClinGen gnomAD |
|
|
CA381473914 rs1400098555 |
622 | V>M | No |
ClinGen gnomAD |
|
|
CA381473896 rs1283025050 |
624 | I>T | No |
ClinGen TOPMed |
|
|
CA381473890 rs1467497584 |
625 | V>A | No |
ClinGen gnomAD |
|
|
rs763474090 CA6125856 |
626 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6125855 rs142901328 |
627 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6125852 rs780992361 |
630 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA6125851 rs770769708 |
631 | S>T | No |
ClinGen ExAC |
|
|
CA6125847 rs758161317 |
633 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs777647386 CA6125848 |
633 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA6125846 rs148556953 |
634 | I>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6125845 rs778765603 |
635 | Q>E | No |
ClinGen ExAC |
|
|
CA6125844 rs756187652 |
635 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA381473818 rs1238617626 |
637 | P>R | No |
ClinGen gnomAD |
|
|
CA224101685 COSM1704269 rs752167775 |
637 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1407359194 CA381473811 |
638 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 639 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1401446789 CA381473807 |
639 | P>R | No |
ClinGen TOPMed |
|
| TCGA novel | 642 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA224101683 rs1041546482 |
642 | E>Q | No |
ClinGen gnomAD |
|
|
CA6125840 rs761955661 |
645 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs764467528 CA6125838 |
646 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs751809321 CA6125839 |
646 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751809321 CA381473762 |
646 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6125837 rs763273197 |
650 | P>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 652 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA224101635 rs551745580 |
653 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs551745580 CA381473714 |
653 | W>L | No |
ClinGen TOPMed gnomAD |
|
|
rs997959293 CA224101642 |
653 | W>R | No |
ClinGen Ensembl |
|
|
CA381473704 rs1278383565 |
654 | D>E | No |
ClinGen TOPMed |
|
|
rs565204982 CA224101625 CA381473688 |
656 | N>K | No |
ClinGen 1000Genomes gnomAD |
|
|
CA6125835 rs765726563 |
656 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs759108042 CA6125834 |
657 | T>A | No |
ClinGen ExAC |
|
|
rs1158971304 CA381473664 |
660 | E>D | No |
ClinGen gnomAD |
|
|
CA381473670 rs1225071541 |
660 | E>Q | No |
ClinGen TOPMed |
|
|
CA6125833 rs776227763 |
661 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs545124221 CA6125831 |
663 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6125829 rs771879476 |
664 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6125827 rs778905311 |
665 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA6125828 rs747934041 |
665 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6125826 rs754814399 |
666 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381473624 rs1228163540 |
667 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs892889222 CA224101540 |
669 | P>R | No |
ClinGen Ensembl |
|
|
CA224101548 rs770077171 |
669 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6125825 rs770077171 |
669 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381473614 rs1286245206 |
670 | H>Y | No |
ClinGen gnomAD |
|
|
CA224101509 rs943369356 |
672 | G>R | No |
ClinGen TOPMed |
|
|
rs1339866836 CA381473596 |
673 | E>K | No |
ClinGen gnomAD |
|
|
CA6125823 rs757348201 |
675 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs751755978 CA6125822 |
675 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1427436042 CA381473580 |
675 | H>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 676 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1480270490 CA381473550 |
679 | S>R | No |
ClinGen TOPMed |
|
|
CA6125821 rs764259322 |
679 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA6125820 rs758782161 |
681 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs753065683 CA6125819 |
682 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 684 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765650507 CA6125818 |
684 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs760055973 CA6125817 |
685 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA381473477 rs1489546568 |
691 | L>I | No |
ClinGen gnomAD |
|
| TCGA novel | 693 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6125814 rs765939714 |
694 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA224101317 rs942418071 |
695 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA381473439 rs1328808466 |
696 | K>N | No |
ClinGen TOPMed |
|
|
CA224101308 rs912220969 |
698 | Q>* | No |
ClinGen gnomAD |
|
|
COSM3703624 rs1051372422 CA381473423 |
698 | Q>H | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA381473422 rs1234086579 |
699 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs930231980 CA224101284 |
700 | D>V | No |
ClinGen gnomAD |
|
|
rs1363981117 CA381473405 |
701 | M>T | No |
ClinGen gnomAD |
|
|
CA381473395 rs1289306725 |
702 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA381473397 rs1289306725 |
702 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1344475368 CA381473393 |
703 | I>V | No |
ClinGen TOPMed |
|
|
rs1431832995 CA381473375 |
705 | Y>C | No |
ClinGen gnomAD |
|
|
CA6125811 rs562781742 |
707 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA381473358 rs1315862581 |
708 | K>Q | No |
ClinGen TOPMed |
|
|
CA6125810 rs747850463 |
709 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs201943750 CA6125809 |
710 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1247565 CA6125808 rs768469888 |
710 | R>H | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA6125807 rs200209283 |
712 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 713 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1206711299 CA381473314 |
715 | P>H | No |
ClinGen TOPMed |
|
|
CA6125805 rs757293733 |
718 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1248786423 CA381473274 |
721 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA224101202 rs199676104 |
721 | W>L | No |
ClinGen Ensembl |
|
|
CA381473263 rs374530115 |
723 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM333528 CA6125803 rs201450672 |
723 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs374530115 CA6125804 COSM239204 |
723 | R>W | prostate [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1565319424 CA381473255 |
724 | A>V | No |
ClinGen Ensembl |
|
|
CA381473252 rs1256474289 |
725 | L>P | No |
ClinGen gnomAD |
|
|
CA6125802 rs758495403 |
726 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1187743050 CA381473246 |
726 | K>T | No |
ClinGen gnomAD |
|
|
CA381473238 rs1474612335 |
727 | P>H | No |
ClinGen TOPMed |
|
|
CA381473226 rs1300707269 |
729 | Q>P | No |
ClinGen gnomAD |
|
|
rs1300707269 CA381473225 |
729 | Q>R | No |
ClinGen gnomAD |
|
|
CA6125801 rs752972283 |
730 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA6125799 rs149858926 |
731 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6125800 rs779109095 |
731 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1441445944 CA381473214 |
732 | E>K | No |
ClinGen gnomAD |
|
|
CA224101161 rs1016692935 |
734 | L>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1328789803 CA381473189 |
736 | A>T | No |
ClinGen gnomAD |
|
|
rs754375672 CA6125798 |
736 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA381473181 rs760258109 |
737 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs760258109 CA6125796 |
737 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs62000969 CA6125795 |
738 | L>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs767057945 CA6125794 |
740 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1304617333 CA381473152 |
741 | F>L | No |
ClinGen TOPMed |
|
|
rs761331410 CA6125793 |
741 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA381473140 rs1439400496 |
743 | G>A | No |
ClinGen gnomAD |
|
|
rs1020119738 CA224101075 |
744 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA6125792 rs774072744 |
745 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6125791 rs768414807 |
747 | N>D | No |
ClinGen ExAC |
|
|
CA381473114 rs1481100353 |
747 | N>K | No |
ClinGen gnomAD |
|
|
rs1011447965 CA224101050 |
749 | N>K | No |
ClinGen TOPMed |
|
|
CA6125790 rs558665194 |
750 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs139236813 CA6125788 |
750 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6125789 rs139236813 |
750 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA381473077 rs1223369581 |
753 | K>R | No |
ClinGen TOPMed |
|
|
CA381473054 rs1306842765 |
756 | N>S | No |
ClinGen gnomAD |
|
|
rs1271287771 CA381473040 |
758 | S>N | No |
ClinGen TOPMed |
|
|
rs1392736523 CA381473033 |
759 | S>A | No |
ClinGen gnomAD |
|
|
rs368730010 CA6125786 |
761 | H>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6125785 rs368730010 |
761 | H>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs748273061 CA6125784 |
761 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs1445258948 CA381473016 |
762 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
CA381472988 rs1590824630 |
765 | E>D | No |
ClinGen Ensembl |
|
|
rs1182316624 CA381472973 |
767 | Q>H | No |
ClinGen TOPMed |
|
|
rs1476642834 CA381472975 |
767 | Q>R | No |
ClinGen TOPMed |
|
|
rs1174751633 CA381472969 |
768 | V>L | No |
ClinGen gnomAD |
|
|
CA6125782 rs62000967 COSM126602 |
769 | R>* | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA6125781 rs754322153 |
769 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6125779 rs756622318 |
771 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1419873256 CA381472950 |
771 | H>R | No |
ClinGen gnomAD |
|
|
rs750970863 CA6125777 |
774 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1211449409 CA381472926 |
775 | K>E | No |
ClinGen gnomAD |
|
|
rs1318657927 CA381472913 |
777 | N>H | No |
ClinGen TOPMed |
|
|
rs114948238 CA6125774 |
783 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751137483 CA6125773 |
786 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs371103435 CA6125771 |
788 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769585299 CA6125769 |
790 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775203617 CA6125770 |
790 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA6125768 rs759355395 |
791 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA224100763 rs776655567 |
791 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1384018646 CA381472763 |
793 | I>V | No |
ClinGen gnomAD |
|
|
CA6125765 rs772025941 |
794 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA6125764 rs748300906 |
795 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA224100753 rs748300906 |
795 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA6125761 rs369370998 COSM3398064 |
796 | E>K | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA224100715 rs916721780 |
798 | V>L | No |
ClinGen Ensembl |
|
|
CA381472634 rs1162879755 |
800 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 802 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA381472597 rs141813240 |
803 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6125759 rs141813240 |
803 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6125760 rs527662960 |
803 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6125758 rs746337342 |
807 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1259651199 CA381472557 |
807 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs973609447 CA224100647 COSM1509622 |
809 | M>I | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs781742036 CA6125757 |
810 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs939456132 CA224100645 |
811 | S>N | No |
ClinGen Ensembl |
|
|
rs1361573768 CA381472434 |
813 | K>E | No |
ClinGen TOPMed |
|
|
CA6125756 rs756714953 |
814 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA381472336 CA6125754 rs763605001 |
816 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381472329 rs1217547688 |
817 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 817 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6125752 rs368311141 |
818 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368311141 CA6125751 |
818 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759428110 CA6125750 |
819 | W>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776402348 CA6125749 |
821 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs865939383 CA224100605 |
822 | Q>* | No |
ClinGen Ensembl |
|
|
rs766408137 CA6125748 |
822 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1292182978 CA381472240 |
822 | Q>P | No |
ClinGen gnomAD |
|
|
rs761785267 CA6125747 |
824 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381472209 rs1395562589 |
824 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA6125745 COSM429665 rs768887082 |
825 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs774515981 CA6125746 |
825 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs78750124 CA6125743 |
826 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA381472177 rs1266373557 |
827 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs770022194 CA6125742 |
827 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1469524172 CA381472162 |
828 | H>P | No |
ClinGen gnomAD |
|
|
CA381472155 rs1197633160 |
829 | L>P | No |
ClinGen gnomAD |
|
|
rs1273501211 CA381472156 |
829 | L>V | No |
ClinGen gnomAD |
|
|
rs764470258 CA6125740 |
830 | V>A | No |
ClinGen ExAC |
|
|
rs746307790 CA6125741 |
830 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA6125738 rs781535573 |
831 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA381472116 rs1206145267 |
832 | A>T | No |
ClinGen TOPMed |
|
|
rs777229332 CA6125734 |
836 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA381472054 rs1436691326 |
836 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA6125733 rs562641866 |
837 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA381471989 rs1479288966 |
839 | S>L | No |
ClinGen TOPMed |
|
|
rs373981944 CA381471988 COSM1356263 |
840 | T>A | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs373981944 CA6125731 |
840 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1175357468 CA381471928 |
844 | S>N | No |
ClinGen TOPMed |
|
|
CA224100508 rs969772359 |
845 | S>L | No |
ClinGen TOPMed |
|
|
CA381471850 rs1168608200 |
850 | L>Y | No |
ClinGen gnomAD |
No associated diseases with Q9NVE4
3 regional properties for Q9NVE4
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | CASTOR, ACT domain | 72 - 140 | IPR027795-1 |
| domain | CASTOR, ACT domain | 262 - 322 | IPR027795-2 |
| domain | CASTOR1, N-terminal | 9 - 69 | IPR040778 |
No GO annotations of cellular component
| Name | Definition |
|---|---|
| No GO annotations for cellular component |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| cell differentiation | The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
| positive regulation of acrosome reaction | Any process that activates or increases the frequency, rate or extent of the acrosome reaction. |
| positive regulation of fertilization | Any process that activates or increases the frequency, rate or extent of fertilization. |
| single fertilization | The union of male and female gametes to form a zygote. |
| spermatogenesis | The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8CDL9 | Ccdc87 | Coiled-coil domain-containing protein 87 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MMEPPKPEPE | LQRFYHRLLR | PLSLFPTRTT | SPEPQKRPPQ | EGRILQSFPL | AKLTVASLCS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QVAKLLAGSG | IAAGVPPEAR | LRLIKVILDE | LKCSWREPPA | ELSLSHKNNQ | KLRKRLEAYV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LLSSEQLFLR | YLHLLVTMST | PRGVFTESAT | LTRLAASLAR | DCTLFLTSPN | VYRGLLADFQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ALLRAEQASG | DVDKLHPVCP | AGTFKLCPIP | WPHSTGFAQV | QCSNLNLNYL | IQLSRPPEFL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NEPGRMDPVK | ELKSIPRLKR | KKPFHWLPSI | GKKREIDISS | SQMVSLPSYP | VAPTSRASPS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PFCPELRRGQ | SMPSLREGWR | LADELGLPPL | PSRPLTPLVL | ATESKPELTG | LIVAEDLKQL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| IKKMKLEGTR | YPPLDSGLPP | LLGVVTRHPA | AGHRLEELEK | MLRNLQEEEA | SGQWDPQPPK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SFPLHPQPVT | ITLKLRNEVV | VQAAAVRVSD | RNFLDSFHIE | GAGALYNHLA | GELDPKAIEK |
| 490 | 500 | 510 | 520 | 530 | 540 |
| MDIDNFVGST | TREVYKELMS | HVSSDHLHFD | QGPLVEPAAD | KDWSTFLSSA | FLRQEKQPQI |
| 550 | 560 | 570 | 580 | 590 | 600 |
| INPELVGLYS | QRANTLQSNT | KKMPSLPSLQ | ATKSWEKWSN | KASLMNSWKT | TLSVDDYFKY |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LTNHETDFLH | VIFQMHEEEV | PVEIVAPARE | SLEIQHPPPL | LEDEEPDFVP | GEWDWNTVLE |
| 670 | 680 | 690 | 700 | 710 | 720 |
| HRLGAGKTPH | LGEPHKILSL | QKHLEQLWSV | LEVPDKDQVD | MTIKYSSKAR | LRQLPSLVNA |
| 730 | 740 | 750 | 760 | 770 | 780 |
| WERALKPIQL | REALLARLEW | FEGQASNPNR | FFKKTNLSSS | HFLEENQVRS | HLHRKLNLME |
| 790 | 800 | 810 | 820 | 830 | 840 |
| SSLVSLLEEI | ELIFGEPVIF | KGRPYLDKMK | SDKVEMLYWL | QQQRRVRHLV | SALKDPHQST |
| LFRSSAASL |