Q9BZJ0
PR
Gene name |
CRNKL1 (CRN, CGI-201, MSTP021) |
Protein name |
Crooked neck-like protein 1 |
Names |
Crooked neck homolog, hCrn |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:51340 |
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
23 structures for Q9BZJ0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 5MQF | EM | 590 A | O | 1-848 | PDB |
| 5XJC | EM | 360 A | J | 1-848 | PDB |
| 5YZG | EM | 410 A | J | 1-848 | PDB |
| 5Z56 | EM | 510 A | J | 1-848 | PDB |
| 5Z57 | EM | 650 A | J | 1-848 | PDB |
| 5Z58 | EM | 490 A | J | 1-848 | PDB |
| 6FF4 | EM | 1600 A | O | 1-848 | PDB |
| 6FF7 | EM | 450 A | O | 1-848 | PDB |
| 6ICZ | EM | 300 A | J | 1-848 | PDB |
| 6ID0 | EM | 290 A | J | 1-848 | PDB |
| 6ID1 | EM | 286 A | J | 1-848 | PDB |
| 6QDV | EM | 330 A | S | 1-848 | PDB |
| 6ZYM | EM | 340 A | O | 1-848 | PDB |
| 7A5P | EM | 500 A | O | 1-848 | PDB |
| 7ABI | EM | 800 A | O | 1-848 | PDB |
| 7DVQ | EM | 289 A | J | 1-848 | PDB |
| 7QTT | EM | 310 A | X | 1-848 | PDB |
| 7W59 | EM | 360 A | J | 1-848 | PDB |
| 7W5A | EM | 360 A | J | 1-848 | PDB |
| 7W5B | EM | 430 A | J | 1-848 | PDB |
| 8C6J | EM | 280 A | S | 162-848 | PDB |
| 8CH6 | EM | 590 A | X | 1-848 | PDB |
| AF-Q9BZJ0-F1 | Predicted | AlphaFoldDB |
669 variants for Q9BZJ0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA16602828 rs1057519885 RCV000431829 RCV000421158 COSM1713267 |
128 | S>F | Variant assessed as Somatic; impact. skin Malignant melanoma of skin [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
rs559048790 CA408380351 |
2 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1249134 CA9781301 rs559048790 |
2 | T>M | oesophagus [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA408380348 rs1351158586 |
3 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs959202464 CA312439240 |
3 | A>V | No |
ClinGen TOPMed |
|
|
CA312439238 rs1034636532 |
4 | T>A | No |
ClinGen Ensembl |
|
|
CA9781297 rs371222753 |
8 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA312439233 rs145101005 |
9 | T>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA312439230 rs201513392 |
13 | D>N | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA312439228 rs775460676 |
14 | T>A | No |
ClinGen Ensembl |
|
|
rs535146740 CA9781295 |
15 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1043427208 CA312439226 |
15 | L>V | No |
ClinGen Ensembl |
|
|
rs1458271018 CA408380185 |
18 | A>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1160819326 CA408380187 |
18 | A>S | No |
ClinGen gnomAD |
|
|
rs1458271018 CA408380182 |
18 | A>V | No |
ClinGen gnomAD |
|
|
CA312439223 rs983750253 |
19 | V>I | No |
ClinGen TOPMed |
|
|
rs1479243859 CA408380156 |
21 | K>* | No |
ClinGen gnomAD |
|
|
rs1555824831 CA9781272 |
23 | T>I | No |
ClinGen Ensembl |
|
|
rs1360358929 CA408379268 |
24 | S>A | No |
ClinGen gnomAD |
|
|
rs766129445 CA9781271 |
24 | S>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 25 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9781270 rs755872205 |
25 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408379254 rs1449884859 |
26 | L>S | No |
ClinGen gnomAD |
|
|
rs767330394 COSM319676 CA9781268 |
29 | R>G | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA9781267 rs761792012 |
29 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408379226 rs1238118014 |
30 | S>F | No |
ClinGen gnomAD |
|
|
rs1436234274 CA408379224 |
31 | Y>H | No |
ClinGen gnomAD |
|
|
CA408379213 rs1229543825 |
32 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1229543825 CA408379212 |
32 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA408379216 rs1277040195 |
32 | S>P | No |
ClinGen gnomAD |
|
|
rs1359146400 CA408379208 |
33 | L>P | No |
ClinGen gnomAD |
|
|
rs762528371 CA9781265 |
34 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762528371 CA9781264 |
34 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1230523680 CA408379202 |
34 | A>V | No |
ClinGen gnomAD |
|
|
CA9781262 VAR_024995 rs7508949 |
35 | G>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA408379197 rs1440848977 |
35 | G>V | No |
ClinGen gnomAD |
|
|
rs1368278260 CA408379191 |
36 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1368278260 CA408379192 |
36 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1364697059 CA408379175 |
38 | G>A | No |
ClinGen gnomAD |
|
|
CA9781261 rs746212685 |
38 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs771540801 CA9781259 |
40 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1011117789 CA312438425 |
40 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1011117789 CA408379165 |
40 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
rs777956093 CA408379140 |
44 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs747537691 CA408379143 |
44 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777956093 CA9781256 |
44 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs747537691 CA9781257 |
44 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868425837 CA312438417 |
45 | L>F | No |
ClinGen Ensembl |
|
|
CA408379137 rs1206103145 |
45 | L>H | No |
ClinGen gnomAD |
|
|
rs1206103145 CA408379136 |
45 | L>P | No |
ClinGen gnomAD |
|
|
CA408379132 rs1315108248 |
46 | A>S | No |
ClinGen TOPMed |
|
|
CA408379133 rs1315108248 |
46 | A>T | No |
ClinGen TOPMed |
|
|
rs748341517 CA408379122 |
47 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs748341517 CA9781254 |
47 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs972185530 CA312438415 |
47 | W>R | No |
ClinGen Ensembl |
|
|
CA408379110 rs1290028459 |
49 | S>F | No |
ClinGen gnomAD |
|
|
CA9781253 rs74404969 |
50 | Q>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9781252 rs755270384 |
50 | Q>R | No |
ClinGen ExAC |
|
|
VAR_049318 rs2273058 CA9781251 |
51 | F>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA9781249 rs557483220 |
52 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9781250 rs142988900 |
52 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751504038 CA9781248 |
53 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 53 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA312438396 rs989589288 |
54 | L>P | No |
ClinGen Ensembl |
|
|
rs529488737 CA312438398 |
54 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1184653553 CA408379077 |
56 | W>R | No |
ClinGen TOPMed |
|
|
CA312438393 rs958218587 |
60 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA312438391 rs1033146736 |
61 | D>N | No |
ClinGen Ensembl |
|
|
CA408379038 rs1158318861 |
62 | A>T | No |
ClinGen gnomAD |
|
|
CA9781244 rs764763818 |
65 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs759281207 CA9781243 |
67 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs761193049 CA9781240 |
68 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771448769 CA408378997 |
68 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771448769 CA9781241 |
68 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1568773147 CA408378992 |
69 | V>D | No |
ClinGen Ensembl |
|
|
rs1260559822 CA408378995 |
69 | V>I | No |
ClinGen gnomAD |
|
|
rs1381512767 CA408378983 |
71 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1228482084 CA408378968 |
73 | Q>E | No |
ClinGen gnomAD |
|
|
CA9781237 rs748148401 |
74 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA9781236 rs779101364 |
76 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408378948 rs1453072438 |
76 | V>I | No |
ClinGen TOPMed |
|
|
rs141785689 CA9781234 |
77 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9781233 rs780899904 |
78 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA408378932 CA408378933 rs1435226093 |
78 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1159922483 CA408378936 |
78 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA408378920 rs757058902 |
80 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777680922 CA9781230 |
80 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs751416259 CA408378918 |
80 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9781231 rs751416259 |
80 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757058902 CA9781232 |
80 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9781229 rs752125657 |
81 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1187125401 CA408378915 |
81 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs752125657 CA9781228 |
81 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764825513 CA9781227 |
82 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA408378903 rs1208764365 |
83 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA9781226 rs2273056 |
83 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408378899 rs377204100 |
84 | R>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9781225 rs377204100 |
84 | R>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs889025020 CA312438378 |
84 | R>W | No |
ClinGen TOPMed |
|
|
rs1234958038 CA408378895 |
85 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs761105056 CA408378893 |
85 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9781223 rs761105056 |
85 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9781222 rs773755524 |
86 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1600265113 CA408378883 |
87 | H>P | No |
ClinGen Ensembl |
|
|
CA9781219 rs762409299 |
88 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9781218 rs774259133 |
88 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA9781216 rs749414547 |
89 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1050359212 CA312438363 |
89 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA408378874 rs749414547 |
89 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746772587 CA9781213 |
90 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1304727625 CA408378869 |
90 | R>S | No |
ClinGen gnomAD |
|
|
CA408378864 rs1167026135 |
91 | C>R | No |
ClinGen gnomAD |
|
|
rs145079188 CA9781210 |
91 | C>Y | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
rs748147610 CA9781208 |
92 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148307781 CA9781207 |
92 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9781206 rs148307781 |
92 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9781209 rs748147610 |
92 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766122480 CA408378848 |
94 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs766122480 CA9781204 |
94 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408378835 rs1252388121 |
95 | D>E | No |
ClinGen TOPMed |
|
|
rs1201689608 CA408378831 |
96 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1190563583 CA408378830 |
96 | A>V | No |
ClinGen gnomAD |
|
|
rs1273510311 CA408378824 |
97 | Q>P | No |
ClinGen gnomAD |
|
|
CA408378823 rs1273510311 |
97 | Q>R | No |
ClinGen gnomAD |
|
|
CA408378815 rs750771442 |
98 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9781202 COSM1024983 rs750771442 |
98 | P>R | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA9781201 rs191096342 |
99 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408378809 rs150473222 |
100 | H>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs150473222 CA9781199 |
100 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408378799 rs1256310188 |
101 | H>R | No |
ClinGen gnomAD |
|
|
rs764568104 CA9781198 |
101 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA9781197 COSM1713272 rs763086392 |
102 | G>R | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs775584333 CA9781196 |
104 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA408378771 rs1417028714 |
106 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA408378757 rs1226451216 |
108 | V>A | No |
ClinGen gnomAD |
|
|
rs772951381 CA9781192 |
108 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs772951381 CA9781193 |
108 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs372474436 CA9781190 |
109 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9781189 rs778892952 |
109 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA9781191 rs372474436 |
109 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1423916547 CA408378750 |
110 | A>D | No |
ClinGen gnomAD |
|
|
rs754934321 CA9781188 |
110 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA408378751 rs754934321 |
110 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1423916547 COSM1024982 CA408378748 |
110 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA9781185 CA9781184 VAR_049319 rs2255258 |
111 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD UniProt dbSNP |
|
|
rs779736792 CA9781186 |
111 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9781183 COSM1641295 rs767166892 |
112 | A>E | stomach [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA312438328 rs767166892 |
112 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9781182 rs767166892 COSM384403 |
112 | A>V | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA408378737 rs1267176904 |
113 | R>K | No |
ClinGen gnomAD |
|
|
CA408378728 rs1397362115 |
114 | G>A | No |
ClinGen gnomAD |
|
|
CA408378725 rs1345044600 |
115 | Q>E | No |
ClinGen Ensembl |
|
|
rs1335222460 CA408378709 |
117 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1568771362 CA408378697 |
119 | L>P | No |
ClinGen Ensembl |
|
|
rs77988877 CA9781176 |
120 | Q>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771112536 CA9781172 |
122 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs771112536 CA9781173 |
122 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM1713271 rs759687119 CA408378680 |
122 | P>S | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs759687119 CA9781174 |
122 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9781171 rs761661820 |
123 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA408378672 COSM3740048 rs1410583835 |
124 | P>S | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 126 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768591710 CA9781169 |
126 | P>R | No |
ClinGen ExAC gnomAD |
|
|
COSM1713268 rs867662867 CA312438314 |
126 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1197846555 CA408378657 |
127 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 127 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769446966 CA9781164 |
129 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA408378644 rs1214522773 |
129 | C>R | No |
ClinGen TOPMed |
|
|
CA9781161 rs147785600 CA9781162 |
130 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9781163 rs745429919 |
130 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408378628 rs778019592 CA9781159 |
131 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs144315980 CA9781157 |
132 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144315980 CA9781158 |
132 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs765238125 CA408378622 |
133 | E>* | No |
ClinGen ExAC TOPMed |
|
|
rs765238125 CA9781156 |
133 | E>Q | No |
ClinGen ExAC TOPMed |
|
|
rs766589968 CA9781153 |
134 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759595000 CA9781155 |
134 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA408378609 rs1433185794 |
135 | F>L | No |
ClinGen TOPMed |
|
|
rs774158149 CA9781151 |
135 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs938506015 CA312438296 |
135 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA312438292 rs1044246126 |
136 | V>G | No |
ClinGen TOPMed |
|
|
CA9781149 rs762926211 |
137 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1483477 rs762926211 CA9781150 |
137 | V>L | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1171614832 CA408378591 |
138 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
CA408378590 rs1171614832 |
138 | S>W | No |
ClinGen TOPMed gnomAD |
|
|
rs201188951 CA312438285 |
139 | V>G | No |
ClinGen Ensembl |
|
|
rs775559150 CA9781148 |
139 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs143884554 CA9781147 |
140 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780618922 CA9781145 |
141 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA408378572 rs1194980940 |
142 | Q>E | No |
ClinGen gnomAD |
|
|
rs758771266 CA9781141 |
142 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs188266043 CA9781143 |
142 | Q>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs188266043 CA9781142 |
142 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9781140 rs753117976 |
143 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs530981737 CA9781139 |
143 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201618370 CA312438275 |
144 | R>* | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA9781138 rs755517643 |
144 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA9781136 rs766402866 |
146 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9781135 rs760886113 |
147 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA408378534 rs1333004016 |
149 | V>A | No |
ClinGen gnomAD |
|
|
CA312438267 rs916636693 |
149 | V>L | No |
ClinGen TOPMed |
|
|
rs372675083 CA9781132 |
150 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9781131 rs149465617 |
151 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9781130 COSM380968 rs149465617 |
151 | G>V | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA9781129 rs139192640 |
152 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1190402785 CA408378505 |
155 | Q>E | No |
ClinGen gnomAD |
|
|
rs978279355 CA312438261 |
156 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA408378492 rs1341551912 |
156 | R>S | No |
ClinGen TOPMed |
|
|
CA408378495 rs1600262905 |
156 | R>T | No |
ClinGen Ensembl |
|
|
rs1036189250 CA312438259 |
157 | S>W | No |
ClinGen Ensembl |
|
|
rs2255255 CA9781127 VAR_049320 |
158 | T>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA9781124 rs771778103 |
160 | A>V | No |
ClinGen ExAC |
|
|
rs1600262769 CA408378468 |
161 | D>Y | No |
ClinGen Ensembl |
|
|
rs867110263 CA312438254 |
163 | A>V | No |
ClinGen gnomAD |
|
|
rs773909827 CA312438251 |
166 | T>A | No |
ClinGen gnomAD |
|
|
rs1600262617 CA408378412 |
170 | K>E | No |
ClinGen Ensembl |
|
|
rs1205291655 CA408378395 |
172 | R>Q | No |
ClinGen TOPMed |
|
|
rs780124915 CA9781118 |
175 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA9781117 rs756134981 |
177 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1313090178 CA408378355 |
178 | K>N | No |
ClinGen gnomAD |
|
|
CA312437790 rs1027689653 CA408377915 |
187 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA408377893 rs760714216 |
189 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9781090 rs760714216 |
189 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA312437775 rs898098844 |
206 | L>F | No |
ClinGen TOPMed |
|
|
rs898098844 CA408377712 |
206 | L>V | No |
ClinGen TOPMed |
|
|
rs1326588901 CA408377702 |
207 | P>S | No |
ClinGen gnomAD |
|
|
rs773980128 CA9781086 |
213 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA408377631 rs1182662835 |
214 | I>F | No |
ClinGen gnomAD |
|
|
CA9781085 rs145031940 |
215 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1274747673 CA408377615 |
215 | T>I | No |
ClinGen TOPMed |
|
|
CA312437766 rs780747259 |
216 | D>G | No |
ClinGen Ensembl |
|
|
CA9781084 rs763200098 |
218 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 220 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 228 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408377463 rs1414347472 |
228 | R>T | No |
ClinGen gnomAD |
|
|
rs1568764594 CA408377146 |
233 | D>G | No |
ClinGen Ensembl |
|
|
rs141899108 CA9781057 |
234 | N>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs777956716 CA9781056 |
235 | I>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 236 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772134478 CA9781055 |
236 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA408377093 rs1348288036 |
241 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs551473376 CA312437209 |
243 | S>N | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs781077783 CA9781049 |
249 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA408377016 rs1330998707 |
251 | W>S | No |
ClinGen gnomAD |
|
|
CA408376991 rs751026217 |
254 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751026217 CA9781047 |
254 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148078969 CA9781044 |
260 | R>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs148078969 CA9781043 |
260 | R>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA408376930 rs1163258281 |
261 | A>V | No |
ClinGen TOPMed |
|
|
rs1475291051 CA408376928 |
262 | R>* | No |
ClinGen gnomAD |
|
|
COSM1410664 CA9781027 rs752211557 |
262 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA9781026 rs764909187 |
264 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs754206017 CA408376907 |
265 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs202007744 COSM1681559 CA9781025 |
265 | Y>H | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA408376890 rs1159085535 |
268 | A>S | No |
ClinGen TOPMed |
|
|
rs199698864 CA408376849 |
274 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs199698864 CA9781023 |
274 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM1024977 CA312436673 rs201087286 |
274 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA312436659 rs1039254091 |
276 | I>F | No |
ClinGen Ensembl |
|
|
CA408376835 rs1342901861 |
276 | I>T | No |
ClinGen TOPMed |
|
|
CA9781020 rs767978683 |
283 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1323379074 CA408376772 CA408376770 |
285 | M>I | No |
ClinGen gnomAD |
|
|
rs150605778 CA9781019 |
285 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1412634541 CA408376763 |
286 | E>D | No |
ClinGen TOPMed |
|
|
CA9781018 rs774344834 |
287 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1246815281 CA408376757 |
287 | M>R | No |
ClinGen gnomAD |
|
|
rs891867258 CA312436652 |
287 | M>V | No |
ClinGen TOPMed |
|
|
CA312436645 rs910998246 |
288 | K>R | No |
ClinGen Ensembl |
|
|
rs749548472 CA9781016 |
290 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs749548472 CA9781017 |
290 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs549514303 CA9781015 |
290 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs931008283 CA408376736 |
291 | Q>E | No |
ClinGen gnomAD |
|
|
rs931008283 CA312436631 |
291 | Q>K | No |
ClinGen gnomAD |
|
|
rs746834392 CA9781013 |
293 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9781012 rs750436643 |
294 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs758304383 CA408376703 |
296 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758304383 CA9781011 |
296 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1197924261 CA408376702 |
296 | R>Q | No |
ClinGen gnomAD |
|
|
CA408376675 rs1449732021 |
300 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA408376666 rs1254850704 |
301 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs374000948 CA9781009 |
303 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1266387801 CA408376649 |
304 | T>A | No |
ClinGen gnomAD |
|
|
rs146916981 CA9781007 |
305 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750795497 CA9781004 |
310 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 312 | F>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs990259550 CA312436352 |
313 | W>* | No |
ClinGen Ensembl |
|
|
CA9780985 rs757720422 |
317 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1412444030 CA408376445 |
318 | Y>H | No |
ClinGen gnomAD |
|
|
rs1412444030 CA408376447 |
318 | Y>N | No |
ClinGen gnomAD |
|
|
rs764646169 CA9780983 |
319 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs956354497 CA312436342 |
322 | M>T | No |
ClinGen Ensembl |
|
|
CA9780982 rs566290781 |
323 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA408376354 rs1391518187 |
324 | G>A | No |
ClinGen TOPMed |
|
|
rs1381764360 CA408376351 |
325 | N>H | No |
ClinGen TOPMed |
|
|
rs548088400 CA9780981 |
326 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs548088400 CA9780980 |
326 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9780978 rs773018605 |
328 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1185677997 CA408376303 |
329 | A>S | No |
ClinGen gnomAD |
|
|
rs1332189064 CA408376301 |
329 | A>V | No |
ClinGen gnomAD |
|
|
rs768756012 CA9780974 |
330 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM182619 CA9780975 rs774415975 |
330 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA9780972 rs779733109 |
331 | Q>* | No |
ClinGen ExAC |
|
| TCGA novel | 331 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769448243 CA9780971 |
332 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9780969 rs781567211 |
334 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs747444290 CA9780967 |
335 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9780965 rs200971188 |
335 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200971188 CA9780966 |
335 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9780964 rs752721327 |
337 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA9780963 rs765262845 |
341 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA9780962 rs755160169 |
342 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 343 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408376116 rs1476093924 |
345 | A>T | No |
ClinGen TOPMed |
|
|
CA9780959 rs761670970 |
346 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774338051 CA9780958 |
347 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9780957 rs764076422 |
348 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs763017472 CA9780956 |
349 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA9780955 rs147723698 |
350 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9780954 rs769203360 |
351 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs745445862 CA9780953 |
352 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs770653111 CA9780951 |
356 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9780950 rs747348292 |
357 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9780949 rs778131271 |
358 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA9780948 rs371786879 |
358 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9780947 rs748657029 |
359 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA312436261 rs778991040 |
360 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778991040 CA9780946 |
360 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs544729800 CA312436253 |
361 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs754014997 CA9780944 |
361 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9780945 rs544729800 |
361 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs756428047 CA9780943 |
362 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756428047 CA9780942 |
362 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751362458 CA9780941 |
363 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202239456 CA9780940 |
363 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA312436228 rs938376271 |
364 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA408375927 rs1418727747 |
364 | T>I | No |
ClinGen gnomAD |
|
|
CA9780938 rs775278606 |
365 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9780937 rs765289963 |
366 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
COSM1024976 rs1477965624 CA408375905 |
368 | R>* | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA408375904 rs1477965624 |
368 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA408375903 rs1249662730 COSM1410661 |
368 | R>Q | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1198584754 CA408375490 |
369 | F>S | No |
ClinGen TOPMed |
|
|
CA9780923 rs756340151 |
372 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780216616 CA9780925 CA408375473 |
372 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780216616 CA9780924 |
372 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1297579193 CA408375468 |
373 | H>Y | No |
ClinGen gnomAD |
|
|
rs1177854203 CA408375443 |
376 | V>G | No |
ClinGen TOPMed |
|
|
CA408375397 rs1484668731 |
382 | Y>F | No |
ClinGen gnomAD |
|
|
CA312428466 rs931608925 |
383 | A>S | No |
ClinGen gnomAD |
|
|
CA312428431 rs868119524 |
383 | A>V | No |
ClinGen Ensembl |
|
|
CA9780920 rs758267504 |
384 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9780918 rs569744749 |
384 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs569744749 CA9780919 |
384 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1371659916 CA408375359 |
388 | K>R | No |
ClinGen gnomAD |
|
|
CA408375343 rs1296915063 |
390 | A>G | No |
ClinGen gnomAD |
|
|
COSM419032 rs753245619 CA9780916 |
396 | R>Q | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs759536576 CA9780917 |
396 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA312428394 rs1053739196 |
398 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs765876399 CA9780915 |
399 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs112980877 CA9780914 |
403 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408375241 rs1317328824 |
405 | F>L | No |
ClinGen TOPMed |
|
|
rs1435807854 CA408375222 |
408 | D>G | No |
ClinGen gnomAD |
|
|
CA408375206 rs1390140552 |
410 | H>R | No |
ClinGen gnomAD |
|
|
CA408375198 rs1253228866 |
411 | M>T | No |
ClinGen TOPMed |
|
|
CA9780913 rs772836006 |
411 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA408375186 rs1568761398 |
413 | E>K | No |
ClinGen Ensembl |
|
|
rs774801438 CA9780911 |
414 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA408375146 rs1186740102 |
418 | A>V | No |
ClinGen gnomAD |
|
|
CA408375117 rs1481081452 |
422 | F>L | No |
ClinGen TOPMed |
|
|
rs769004837 CA9780909 |
422 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs749807963 CA9780908 |
426 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA408375089 rs1212792499 |
426 | Q>R | No |
ClinGen gnomAD |
|
|
CA9780907 rs779942200 |
428 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs779256370 CA312427191 |
431 | R>S | No |
ClinGen TOPMed |
|
|
COSM1681558 CA9780889 rs776139384 |
433 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA408374929 rs776139384 |
433 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9780888 rs199809196 |
433 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9780887 rs745924158 |
434 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA9780886 rs368280814 |
436 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9780885 rs771014347 |
437 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA408374863 rs747256869 |
438 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1295331068 CA408374874 |
438 | Y>H | No |
ClinGen gnomAD |
|
|
CA408374857 rs1442611958 |
439 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 440 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778511962 CA9780883 |
440 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408374842 rs1327340475 |
441 | D>H | No |
ClinGen gnomAD |
|
|
CA9780882 rs754787042 |
443 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1392375190 CA408374773 |
446 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA9780881 COSM1533261 rs532937612 |
448 | A>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs375045028 CA9780880 |
451 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749895779 CA9780878 |
456 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA408374641 rs1475362157 |
457 | I>T | No |
ClinGen gnomAD |
|
|
rs201121134 CA312427078 |
457 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs767020022 CA9780876 |
463 | G>D | No |
ClinGen ExAC |
|
|
CA9780875 rs757616700 |
464 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA312427061 rs757616700 |
464 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA312427056 rs754398446 |
465 | R>T | No |
ClinGen Ensembl |
|
|
CA9780874 rs751212480 |
466 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1420761528 CA408374536 |
466 | R>W | No |
ClinGen gnomAD |
|
|
rs1427399258 CA408374523 |
467 | G>V | No |
ClinGen TOPMed |
|
|
CA9780872 rs371675565 |
468 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9780871 rs547638192 |
469 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 469 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1363127920 COSM1202310 CA408374494 |
470 | D>G | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1170035208 CA408374481 |
471 | I>T | No |
ClinGen TOPMed |
|
|
rs1214540982 CA408374486 |
471 | I>V | No |
ClinGen gnomAD |
|
|
CA408374475 rs1350246635 |
472 | I>V | No |
ClinGen gnomAD |
|
|
CA9780870 rs142507195 |
476 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1241667659 CA408374429 |
476 | R>W | No |
ClinGen gnomAD |
|
|
CA9780866 rs747114057 |
481 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1274552110 CA408374332 |
484 | V>G | No |
ClinGen gnomAD |
|
| rs772288207 | 486 | A>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408373922 rs1466884119 |
486 | A>V | No |
ClinGen TOPMed |
|
|
rs1026870452 CA312426477 |
490 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA9780841 rs769565084 |
494 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA408373852 rs1412267601 |
496 | D>Y | No |
ClinGen TOPMed |
|
|
rs745732279 CA9780840 |
498 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs577483196 CA9780839 COSM182617 |
499 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs146936626 CA9780838 COSM443520 |
499 | R>H | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1217075819 CA408373806 |
503 | S>G | No |
ClinGen TOPMed |
|
|
CA9780835 rs752407308 |
504 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777183138 CA9780836 |
504 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778762710 CA9780833 |
505 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408373784 rs1272261551 |
506 | E>G | No |
ClinGen TOPMed |
|
|
CA408373779 rs1415155823 |
507 | A>T | No |
ClinGen gnomAD |
|
|
rs1229090312 CA408373775 |
507 | A>V | No |
ClinGen gnomAD |
|
|
rs755388127 CA9780832 |
509 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs761108473 CA9780829 |
512 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA9780828 rs750451055 |
514 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA408373703 rs1417395346 |
518 | I>T | No |
ClinGen gnomAD |
|
|
CA408373706 rs1600246901 |
518 | I>V | No |
ClinGen Ensembl |
|
| TCGA novel | 519 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408373693 rs1475839119 |
520 | N>D | No |
ClinGen gnomAD |
|
|
CA9780826 rs767508370 |
520 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9780825 rs757665657 |
521 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9780824 rs757665657 |
521 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1427506921 CA408373681 |
522 | P>S | No |
ClinGen TOPMed |
|
|
CA408373675 rs1258740915 |
523 | P>S | No |
ClinGen gnomAD |
|
|
rs370539789 CA9780820 |
527 | K>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370539789 CA408373639 |
527 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9780819 rs746921866 |
528 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA408373616 rs1432113486 |
529 | H>P | No |
ClinGen TOPMed |
|
|
rs771691914 CA9780817 |
529 | H>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 532 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9780815 rs778674808 |
535 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA312426334 rs1035672020 |
536 | L>V | No |
ClinGen TOPMed |
|
|
rs1348735758 CA408373465 |
539 | N>S | No |
ClinGen TOPMed |
|
|
rs754725111 CA408373449 |
540 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754725111 CA9780814 |
540 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA312426324 rs879237822 |
543 | Y>C | No |
ClinGen gnomAD |
|
|
rs1568759372 CA408373356 |
547 | E>A | No |
ClinGen Ensembl |
|
|
CA312426314 CA408373326 rs532846228 |
549 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA9780801 rs141858369 |
550 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9780802 rs141858369 |
550 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408373291 rs1568758992 |
551 | P>R | No |
ClinGen Ensembl |
|
|
CA408373288 rs1399301302 |
552 | E>K | No |
ClinGen gnomAD |
|
|
rs1179797725 CA408373278 |
553 | R>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 554 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1568758960 CA408373244 |
558 | Y>F | No |
ClinGen Ensembl |
|
|
rs1191239942 CA408373238 |
559 | Q>E | No |
ClinGen gnomAD |
|
|
CA312425846 rs78312402 |
565 | I>N | No |
ClinGen Ensembl |
|
|
rs77917664 CA312425827 |
566 | P>A | No |
ClinGen Ensembl |
|
|
CA9780797 rs369029881 |
566 | P>R | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 566 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 566 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1214678343 CA408373168 |
569 | K>R | No |
ClinGen gnomAD |
|
|
rs1236458660 CA408372730 |
570 | F>L | No |
ClinGen gnomAD |
|
|
CA9780780 rs773931500 |
572 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9780781 rs761873225 |
572 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1364387226 CA408372698 |
575 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA312425121 rs1034668826 |
576 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
CA408372671 rs1333346693 |
579 | Y>C | No |
ClinGen TOPMed |
|
|
CA9780779 rs768268222 |
579 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs1003126638 CA312425090 |
581 | Q>E | No |
ClinGen TOPMed |
|
|
CA408372652 rs1600245190 |
582 | F>L | No |
ClinGen Ensembl |
|
|
CA312425088 rs78660645 |
583 | E>* | No |
ClinGen Ensembl |
|
|
rs748895824 CA9780778 |
583 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1315344111 CA408372622 |
585 | R>* | No |
ClinGen gnomAD |
|
|
CA9780777 rs372285505 |
585 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 587 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9780776 rs769537772 |
587 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs905119335 CA408372583 |
588 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA408372576 rs1227953796 |
589 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 590 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs566498711 CA9780775 |
592 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 592 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9780773 rs139899512 |
595 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139899512 CA9780774 |
595 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408372430 rs1474710845 |
597 | G>E | No |
ClinGen gnomAD |
|
|
rs1416566728 CA408372401 |
599 | S>C | No |
ClinGen TOPMed |
|
|
rs776918940 CA9780757 |
600 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9780758 rs759227985 |
600 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs899453458 CA312424381 |
603 | C>F | No |
ClinGen Ensembl |
|
|
rs771277140 CA9780756 |
606 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747444372 CA9780755 |
607 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA9780754 rs778225398 |
613 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA9780753 rs201597770 |
615 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs779082874 CA9780751 |
618 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200465830 CA9780750 |
618 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1568757784 CA408372194 |
619 | L>V | No |
ClinGen Ensembl |
|
|
CA9780749 COSM3840542 rs754126327 |
620 | R>* | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 621 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408372176 rs1568757775 |
622 | F>L | No |
ClinGen Ensembl |
|
|
rs1393718658 CA408372145 |
626 | R>Q | No |
ClinGen gnomAD |
|
|
CA9780747 rs757086001 |
626 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9780745 rs763886828 |
627 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA9780746 rs751448323 |
627 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1331459406 CA408372140 |
627 | K>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9780744 rs762976292 |
628 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs940871877 CA312424341 |
629 | Y>* | No |
ClinGen gnomAD |
|
|
CA9780743 rs752078487 |
632 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs764813236 COSM1410658 CA9780742 |
632 | F>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA9780741 rs759100292 |
633 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs759100292 CA408372102 |
633 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs776265687 CA408372097 |
634 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs776265687 CA9780740 |
634 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1431424360 CA408372089 |
635 | F>V | No |
ClinGen TOPMed |
|
|
rs770613317 CA9780739 |
636 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9780738 rs761009151 |
637 | P>S | No |
ClinGen ExAC |
|
|
CA408372063 rs1467273299 |
639 | N>Y | No |
ClinGen gnomAD |
|
|
rs1269710047 CA408372044 |
641 | T>I | No |
ClinGen gnomAD |
|
|
rs201343306 CA408372042 |
642 | S>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9780736 rs201343306 |
642 | S>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9780735 rs748695170 |
644 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs199693722 CA9780731 |
647 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9780732 rs199693722 |
647 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199693722 CA9780733 |
647 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9780729 rs376006372 |
651 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1325109185 CA408371968 |
653 | L>V | No |
ClinGen gnomAD |
|
|
rs1282660519 CA408371953 |
655 | D>G | No |
ClinGen TOPMed |
|
|
rs149517251 CA9780728 |
656 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1387050896 CA408371949 |
656 | I>V | No |
ClinGen gnomAD |
|
|
CA9780726 rs138204178 |
660 | R>Q | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA9780727 rs371503092 |
660 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1172988928 CA408371918 |
661 | A>P | No |
ClinGen gnomAD |
|
| TCGA novel | 661 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408371913 rs765158727 |
662 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9780724 rs765158727 |
662 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367634775 CA9780723 |
663 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408371878 rs1189522551 |
667 | I>V | No |
ClinGen TOPMed |
|
|
CA408371853 rs1260008038 |
670 | P>Q | No |
ClinGen gnomAD |
|
|
CA312424249 COSM1410657 rs760353268 |
671 | R>C | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA9780720 rs760353268 |
671 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773384050 CA9780719 |
671 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 672 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs915563710 CA312424248 |
674 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA312423456 rs968472565 |
677 | V>M | No |
ClinGen gnomAD |
|
|
rs1220160596 CA408371783 |
679 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA408371778 rs1340887492 |
679 | W>C | No |
ClinGen gnomAD |
|
|
rs1212913079 CA408371760 |
682 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA312423451 rs371482244 |
682 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA408371743 rs1360860684 |
683 | I>T | No |
ClinGen gnomAD |
|
|
CA9780704 rs753308068 |
685 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs897719363 CA312423449 |
690 | E>A | No |
ClinGen TOPMed |
|
|
CA408371650 rs1173073487 |
690 | E>K | No |
ClinGen gnomAD |
|
|
CA408371612 rs1466349314 |
692 | T>K | No |
ClinGen gnomAD |
|
|
rs1455667380 CA408371594 |
694 | R>G | No |
ClinGen gnomAD |
|
|
rs780965619 CA312423440 |
696 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780965619 CA9780702 |
696 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9780701 rs200745538 |
696 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1238536285 CA408371528 |
700 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA9780700 rs369861927 |
700 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs762215398 CA408371525 |
701 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377678635 CA9780698 |
701 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762215398 CA9780699 |
701 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA312423399 rs76980563 |
702 | L>V | No |
ClinGen gnomAD |
|
|
rs1200080538 CA408371476 |
705 | R>Q | No |
ClinGen gnomAD |
|
|
rs1318168101 COSM1024972 CA408371461 |
706 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1226374254 CA408371435 |
708 | H>L | No |
ClinGen gnomAD |
|
|
CA408371429 rs1389068704 |
709 | V>F | No |
ClinGen TOPMed |
|
|
CA408371296 rs368436051 |
712 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368436051 CA9780682 |
712 | W>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408371285 rs1328832087 |
713 | I>N | No |
ClinGen TOPMed |
|
|
CA408371283 rs1328832087 |
713 | I>T | No |
ClinGen TOPMed |
|
|
rs763465412 CA9780679 |
717 | Q>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 717 | Q>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408371206 rs1438069722 |
719 | E>Q | No |
ClinGen TOPMed |
|
|
rs1316975249 CA408371170 |
723 | G>E | No |
ClinGen TOPMed |
|
|
CA312422722 rs111503447 |
725 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 726 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408371149 rs1418368284 |
726 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA408371152 rs1318084755 |
726 | G>R | No |
ClinGen gnomAD |
|
|
CA408371106 rs1339923136 |
732 | R>T | No |
ClinGen TOPMed |
|
| TCGA novel | 734 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 734 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9780677 rs753247491 |
734 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408371074 rs1600241889 |
736 | E>D | No |
ClinGen Ensembl |
|
|
rs774304106 CA9780675 |
736 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA408371067 rs1489260086 |
737 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 741 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9780674 COSM167238 rs375673644 |
743 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9780671 rs371058193 |
745 | C>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9780672 rs760815482 |
745 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371058193 CA9780670 |
745 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371058193 CA312422697 |
745 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs938111155 CA312422696 |
749 | E>* | No |
ClinGen Ensembl |
|
| TCGA novel | 753 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408370958 rs1347226291 |
753 | M>L | No |
ClinGen gnomAD |
|
|
rs200053815 CA9780669 |
753 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408370959 rs1347226291 |
753 | M>V | No |
ClinGen gnomAD |
|
|
rs1269930833 CA408370940 |
756 | E>A | No |
ClinGen gnomAD |
|
|
rs779936681 CA9780668 |
756 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408370934 rs1398522148 |
757 | S>P | No |
ClinGen gnomAD |
|
|
CA408370923 rs1434651419 |
758 | W>C | No |
ClinGen gnomAD |
|
|
CA408370924 rs1299328955 |
758 | W>L | No |
ClinGen gnomAD |
|
|
rs780569934 CA9780665 COSM182612 |
759 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs780569934 CA9780666 |
759 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA9780664 rs141413150 |
759 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 763 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs757426818 | 764 | E>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376558362 CA312422651 |
764 | E>G | No |
ClinGen ESP |
|
| TCGA novel | 764 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777631223 CA9780662 |
764 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200991173 CA312422621 |
766 | G>A | No |
ClinGen 1000Genomes |
|
|
rs1476717035 CA408370862 |
767 | T>I | No |
ClinGen gnomAD |
|
|
CA408370861 rs1372773438 |
768 | A>T | No |
ClinGen Ensembl |
|
|
rs1389254054 CA408370840 |
771 | K>E | No |
ClinGen TOPMed |
|
|
CA408370826 rs758802093 |
772 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA408370823 rs1485308753 |
773 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs139045525 CA312422614 |
774 | V>A | No |
ClinGen ESP TOPMed |
|
|
CA408370805 rs1254291813 |
776 | K>Q | No |
ClinGen gnomAD |
|
|
CA408370791 rs1312900718 |
778 | M>L | No |
ClinGen gnomAD |
|
|
rs765794893 CA9780658 |
778 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1342700448 CA408370774 |
780 | E>A | No |
ClinGen gnomAD |
|
|
CA408370768 rs1568755868 |
781 | K>E | No |
ClinGen Ensembl |
|
|
CA9780656 rs753891377 |
782 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9780655 rs766384448 |
783 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 784 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1305159004 | 787 | K>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA312422559 rs1043761510 |
788 | V>A | No |
ClinGen Ensembl |
|
|
rs201525959 CA9780654 |
789 | Q>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9780653 rs529017008 |
791 | D>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA312422543 rs529017008 |
791 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs146894938 CA312422512 |
792 | D>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs772321869 CA9780652 |
792 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs772321869 CA312422516 |
792 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA9780651 rs142655803 |
793 | G>R | No |
ClinGen ESP ExAC TOPMed |
|
|
rs776397922 CA9780626 |
794 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1267622800 CA408370633 |
799 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 801 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746472834 CA9780624 |
801 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA408370614 rs1307840189 |
802 | F>L | No |
ClinGen gnomAD |
|
|
CA9780623 rs772884017 |
803 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA312421862 rs199577415 |
803 | D>H | No |
ClinGen gnomAD |
|
|
rs1331609532 CA408370597 |
804 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs771785943 CA9780622 |
805 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771785943 CA408370593 |
805 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408370578 rs747819386 |
807 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747819386 CA9780621 |
807 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778686416 CA9780620 |
808 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 809 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408370543 rs1310196787 |
812 | N>S | No |
ClinGen gnomAD |
|
|
CA9780618 rs749703305 |
814 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1441618428 CA408370525 |
815 | N>D | No |
ClinGen gnomAD |
|
|
CA9780616 rs756644368 |
820 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA9780615 rs372098851 |
821 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs946646567 CA312421814 |
825 | W>* | No |
ClinGen gnomAD |
|
|
rs767596405 CA9780614 |
827 | K>I | No |
ClinGen ExAC gnomAD |
|
|
CA312421797 rs1046346 |
828 | Q>* | No |
ClinGen Ensembl |
|
|
CA9780613 rs757383500 |
833 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs751722608 CA9780611 |
839 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408370327 rs138573899 |
842 | D>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA9780610 rs764414292 |
842 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA9780607 VAR_049321 rs35201190 COSM1410656 |
843 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs372455448 CA9780604 |
844 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9780605 rs148992156 |
844 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9780603 rs772793846 |
845 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs771698081 CA9780602 |
848 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA9780601 rs761483077 |
849 | S>S | No |
ClinGen ExAC gnomAD |
No associated diseases with Q9BZJ0
13 regional properties for Q9BZJ0
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | HAT (Half-A-TPR) repeat | 222 - 254 | IPR003107-1 |
| repeat | HAT (Half-A-TPR) repeat | 256 - 288 | IPR003107-2 |
| repeat | HAT (Half-A-TPR) repeat | 290 - 322 | IPR003107-3 |
| repeat | HAT (Half-A-TPR) repeat | 324 - 355 | IPR003107-4 |
| repeat | HAT (Half-A-TPR) repeat | 357 - 388 | IPR003107-5 |
| repeat | HAT (Half-A-TPR) repeat | 390 - 425 | IPR003107-6 |
| repeat | HAT (Half-A-TPR) repeat | 427 - 461 | IPR003107-7 |
| repeat | HAT (Half-A-TPR) repeat | 505 - 539 | IPR003107-8 |
| repeat | HAT (Half-A-TPR) repeat | 549 - 585 | IPR003107-9 |
| repeat | HAT (Half-A-TPR) repeat | 587 - 618 | IPR003107-10 |
| repeat | HAT (Half-A-TPR) repeat | 620 - 652 | IPR003107-11 |
| repeat | HAT (Half-A-TPR) repeat | 654 - 688 | IPR003107-12 |
| repeat | HAT (Half-A-TPR) repeat | 690 - 721 | IPR003107-13 |
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| catalytic step 2 spliceosome | A spliceosomal complex that contains three snRNPs, including U5, bound to a splicing intermediate in which the first catalytic cleavage of the 5' splice site has occurred. The precise subunit composition differs significantly from that of the catalytic step 1, or activated, spliceosome, and includes many proteins in addition to those found in the associated snRNPs. |
| nuclear speck | A discrete extra-nucleolar subnuclear domain, 20-50 in number, in which splicing factors are seen to be localized by immunofluorescence microscopy. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| post-mRNA release spliceosomal complex | A spliceosomal complex that is formed following the release of the spliced product from the post-spliceosomal complex and contains the excised intron and three snRNPs, including U5. |
| Prp19 complex | A protein complex consisting of Prp19 and associated proteins that is involved in the transition from the precatalytic spliceosome to the activated form that catalyzes step 1 of splicing, and which remains associated with the spliceosome through the second catalytic step. It is widely conserved, found in both yeast and mammals, though the exact composition varies. In S. cerevisiae, it contains Prp19p, Ntc20p, Snt309p, Isy1p, Syf2p, Cwc2p, Prp46p, Clf1p, Cef1p, and Syf1p. |
| spliceosomal complex | Any of a series of ribonucleoprotein complexes that contain snRNA(s) and small nuclear ribonucleoproteins (snRNPs), and are formed sequentially during the spliceosomal splicing of one or more substrate RNAs, and which also contain the RNA substrate(s) from the initial target RNAs of splicing, the splicing intermediate RNA(s), to the final RNA products. During cis-splicing, the initial target RNA is a single, contiguous RNA transcript, whether mRNA, snoRNA, etc., and the released products are a spliced RNA and an excised intron, generally as a lariat structure. During trans-splicing, there are two initial substrate RNAs, the spliced leader RNA and a pre-mRNA. |
| U2-type catalytic step 2 spliceosome | A spliceosomal complex that contains the U2, U5 and U6 snRNPs bound to a splicing intermediate in which the first catalytic cleavage of the 5' splice site has occurred. The precise subunit composition differs significantly from that of the catalytic step 1, or activated, spliceosome, and includes many proteins in addition to those found in the U2, U5 and U6 snRNPs. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| RNA binding | Binding to an RNA molecule or a portion thereof. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| mRNA splicing, via spliceosome | The joining together of exons from one or more primary transcripts of messenger RNA (mRNA) and the excision of intron sequences, via a spliceosomal mechanism, so that mRNA consisting only of the joined exons is produced. |
| spliceosomal complex assembly | The aggregation, arrangement and bonding together of a spliceosomal complex, a ribonucleoprotein apparatus that catalyzes nuclear mRNA splicing via transesterification reactions. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P17886 | crn | Protein crooked neck | Drosophila melanogaster (Fruit fly) | PR |
| Q9HCS7 | XAB2 | Pre-mRNA-splicing factor SYF1 | Homo sapiens (Human) | PR |
| O94906 | PRPF6 | Pre-mRNA-processing factor 6 | Homo sapiens (Human) | PR |
| P63154 | Crnkl1 | Crooked neck-like protein 1 | Mus musculus (Mouse) | PR |
| P63155 | Crnkl1 | Crooked neck-like protein 1 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTATVENLTF | QKDTLGNAVD | KNTSRLELRS | YSLAGRHGST | EPLVLAWSSQ | FRRLTWGCAL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DALHRSPCVA | ASQHGVTHLI | RSSRTPHSTR | CRKEDAQPGH | HGNGAASVTA | QARGQRSVLQ |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VPLPVPRSCL | FSESFVVSVS | SQSRFLASVP | GTGVQRSTAA | DMAASTAAGK | QRIPKVAKVK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NKAPAEVQIT | AEQLLREAKE | RELELLPPPP | QQKITDEEEL | NDYKLRKRKT | FEDNIRKNRT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VISNWIKYAQ | WEESLKEIQR | ARSIYERALD | VDYRNITLWL | KYAEMEMKNR | QVNHARNIWD |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RAITTLPRVN | QFWYKYTYME | EMLGNVAGAR | QVFERWMEWQ | PEEQAWHSYI | NFELRYKEVD |
| 370 | 380 | 390 | 400 | 410 | 420 |
| RARTIYERFV | LVHPDVKNWI | KYARFEEKHA | YFAHARKVYE | RAVEFFGDEH | MDEHLYVAFA |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KFEENQKEFE | RVRVIYKYAL | DRISKQDAQE | LFKNYTIFEK | KFGDRRGIED | IIVSKRRFQY |
| 490 | 500 | 510 | 520 | 530 | 540 |
| EEEVKANPHN | YDAWFDYLRL | VESDAEAEAV | REVYERAIAN | VPPIQEKRHW | KRYIYLWINY |
| 550 | 560 | 570 | 580 | 590 | 600 |
| ALYEELEAKD | PERTRQVYQA | SLELIPHKKF | TFAKMWILYA | QFEIRQKNLS | LARRALGTSI |
| 610 | 620 | 630 | 640 | 650 | 660 |
| GKCPKNKLFK | VYIELELQLR | EFDRCRKLYE | KFLEFGPENC | TSWIKFAELE | TILGDIDRAR |
| 670 | 680 | 690 | 700 | 710 | 720 |
| AIYELAISQP | RLDMPEVLWK | SYIDFEIEQE | ETERTRNLYR | RLLQRTQHVK | VWISFAQFEL |
| 730 | 740 | 750 | 760 | 770 | 780 |
| SSGKEGSLTK | CRQIYEEANK | TMRNCEEKEE | RLMLLESWRS | FEEEFGTASD | KERVDKLMPE |
| 790 | 800 | 810 | 820 | 830 | 840 |
| KVKKRRKVQT | DDGSDAGWEE | YFDYIFPEDA | ANQPNLKLLA | MAKLWKKQQQ | EKEDAEHHPD |
| EDVDESES |