P23458
SS
Gene name |
JAK1 (JAK1A, JAK1B) |
Protein name |
Tyrosine-protein kinase JAK1 |
Names |
EC 2.7.10.2 , Janus kinase 1 , JAK-1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3716 |
EC number |
2.7.10.2: Protein-tyrosine kinases |
Protein Class |
|
Descriptions
JAK2 is tyrosine-protein kinase which mediates essential signaling events in both innate and adaptive immunity. JH2 domain inhibits its partnering JAK2 monomer. V617F substitution and autophosphorylation of Y570, located in the pseudokinase domain, relieves the autoinhibition of JAK2's kinase activity. The JAK2 pseudokinase domain negatively regulates the activity of JAK2. Kinase augments downstream JAK2-STAT signaling pathways are constitutively activated by the autoinhibition.
Autoinhibitory domains (AIDs)
Target domain |
875-1154 (Protein kinase domain) |
Relief mechanism |
Partner binding |
Assay |
|
Target domain |
875-1154 (Protein kinase domain) |
Relief mechanism |
Partner binding |
Assay |
|
Target domain |
875-1154 (Protein kinase domain) |
Relief mechanism |
Partner binding |
Assay |
|
Accessory elements
1020-1046 (Activation loop from InterPro)
Target domain |
875-1153 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
1020-1046 (Activation loop from InterPro)
Target domain |
875-1153 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
References
- Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell systems, 2, 89-100
- Ma W et al. (2009) "Mutation profile of JAK2 transcripts in patients with chronic myeloproliferative neoplasias", The Journal of molecular diagnostics : JMD, 11, 49-53
- Saharinen P et al. (2003) "Autoinhibition of Jak2 tyrosine kinase is dependent on specific regions in its pseudokinase domain", Molecular biology of the cell, 14, 1448-59
- Kershaw NJ et al. (2013) "SOCS3 binds specific receptor-JAK complexes to control cytokine signaling by direct kinase inhibition", Nature structural & molecular biology, 20, 469-76
- Hubbard SR (2017) "Mechanistic Insights into Regulation of JAK2 Tyrosine Kinase", Frontiers in endocrinology, 8, 361
- Wang J et al. (2023) "Triple-action inhibitory mechanism of allosteric TYK2-specific inhibitors", bioRxiv : the preprint server for biology, ,
- Lupardus PJ et al. (2014) "Structure of the pseudokinase-kinase domains from protein kinase TYK2 reveals a mechanism for Janus kinase (JAK) autoinhibition", Proceedings of the National Academy of Sciences of the United States of America, 111, 8025-30
Autoinhibited structure
Activated structure
51 structures for P23458
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3EYG | X-ray | 190 A | A | 865-1154 | PDB |
| 3EYH | X-ray | 200 A | A | 865-1154 | PDB |
| 4E4L | X-ray | 200 A | A/B/D/E | 854-1154 | PDB |
| 4E4N | X-ray | 190 A | A/B | 854-1154 | PDB |
| 4E5W | X-ray | 186 A | A/B | 854-1154 | PDB |
| 4EHZ | X-ray | 217 A | A/B/C/D | 854-1154 | PDB |
| 4EI4 | X-ray | 222 A | A/B | 854-1154 | PDB |
| 4FK6 | X-ray | 220 A | A/B | 854-1154 | PDB |
| 4GS0 | X-ray | 180 A | C | 1033-1036 | PDB |
| 4I5C | X-ray | 210 A | A/B | 854-1154 | PDB |
| 4IVB | X-ray | 190 A | A/B | 854-1154 | PDB |
| 4IVC | X-ray | 235 A | A/B | 854-1154 | PDB |
| 4IVD | X-ray | 193 A | A/B | 854-1154 | PDB |
| 4K6Z | X-ray | 273 A | A | 854-1154 | PDB |
| 4K77 | X-ray | 240 A | A/B | 854-1154 | PDB |
| 4L00 | X-ray | 180 A | A/B | 561-860 | PDB |
| 4L01 | X-ray | 190 A | A/B | 561-860 | PDB |
| 5E1E | X-ray | 230 A | A/B | 865-1154 | PDB |
| 5HX8 | X-ray | 220 A | A/B | 854-1154 | PDB |
| 5IXD | X-ray | 285 A | A | 35-559 | PDB |
| 5IXI | X-ray | 257 A | A | 35-559 | PDB |
| 5KHW | X-ray | 247 A | A/B | 841-1154 | PDB |
| 5KHX | X-ray | 240 A | A | 841-1154 | PDB |
| 5L04 | X-ray | 210 A | A | 31-577 | PDB |
| 5WO4 | X-ray | 184 A | A/B | 854-1154 | PDB |
| 6AAH | X-ray | 183 A | A/B | 865-1154 | PDB |
| 6BBU | X-ray | 208 A | A | 841-1154 | PDB |
| 6C7Y | X-ray | 250 A | A | 869-1153 | PDB |
| 6DBN | X-ray | 248 A | A | 841-1154 | PDB |
| 6ELR | X-ray | 180 A | A/B | 854-1154 | PDB |
| 6GGH | X-ray | 170 A | A/B | 863-1154 | PDB |
| 6HZU | X-ray | 220 A | A/B | 854-1154 | PDB |
| 6N77 | X-ray | 164 A | A/B | 854-1154 | PDB |
| 6N78 | X-ray | 183 A | A | 854-1154 | PDB |
| 6N79 | X-ray | 227 A | A | 854-1154 | PDB |
| 6N7A | X-ray | 133 A | A/B | 854-1154 | PDB |
| 6N7B | X-ray | 181 A | A | 854-1154 | PDB |
| 6N7C | X-ray | 169 A | A/B | 854-1154 | PDB |
| 6N7D | X-ray | 178 A | A | 854-1154 | PDB |
| 6RSB | X-ray | 180 A | A/B | 854-1154 | PDB |
| 6RSC | X-ray | 185 A | A/B | 854-1154 | PDB |
| 6RSD | X-ray | 176 A | A/B | 854-1154 | PDB |
| 6RSE | X-ray | 180 A | A/B | 854-1154 | PDB |
| 6RSH | X-ray | 171 A | A/B | 854-1154 | PDB |
| 6SM8 | X-ray | 185 A | A/B | 854-1154 | PDB |
| 6SMB | X-ray | 204 A | A/B | 854-1154 | PDB |
| 6TPE | X-ray | 287 A | A/B | 864-1154 | PDB |
| 6TPF | X-ray | 231 A | A/B | 864-1154 | PDB |
| 6W8L | X-ray | 211 A | A | 841-1154 | PDB |
| 8EXJ | X-ray | 230 A | D | 1027-1042 | PDB |
| AF-P23458-F1 | Predicted | AlphaFoldDB |
616 variants for P23458
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA160154 RCV001854631 RCV002492428 rs200049537 RCV000121238 |
360 | R>W | Autoinflammation, immune dysregulation, and eosinophilia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001854629 CA160138 RCV002498566 RCV000121230 rs61735631 |
506 | R>C | Autoinflammation, immune dysregulation, and eosinophilia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs869312953 RCV001255134 CA358587 RCV000210558 RCV000444628 VAR_084991 |
634 | A>D | Autoinflammation, immune dysregulation, and eosinophilia Inborn genetic diseases Lymphoblastic leukemia, acute, with lymphomatous features AIIDE; constitutive gain of function resulting in increased receptor signaling pathway via JAK-STAT; no effect on protein abundance [ClinVar, UniProt] | Yes |
ClinGen ClinVar Ensembl dbSNP UniProt |
|
RCV000418735 CA892794 rs151047872 COSM303855 |
646 | S>F | haematopoietic_and_lymphoid_tissue Lymphoblastic leukemia, acute, with lymphomatous features [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
RCV001725975 CA160140 rs149968614 RCV002055339 RCV000121231 |
651 | V>M | Autoinflammation, immune dysregulation, and eosinophilia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000430797 RCV000419919 CA16602499 RCV000429980 RCV000440192 COSM41757 rs1057519753 |
658 | V>F | Leukemia, acute, X-linked Variant assessed as Somatic; impact. Acquired polycythemia vera haematopoietic_and_lymphoid_tissue Acute myeloid leukemia Lymphoblastic leukemia, acute, with lymphomatous features [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
VAR_084992 RCV001255135 rs1655173102 |
703 | S>I | Autoinflammation, immune dysregulation, and eosinophilia AIIDE; increased activation of protein kinase activity; constitutive gain of function through the transactivation of associated JAK kinases; increased receptor signaling pathway via JAK-STAT [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
|
RCV001293764 rs1655079234 |
783 | L>F | Acute megakaryoblastic leukemia in down syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA340714112 rs1298453909 |
4 | L>V | No |
ClinGen gnomAD |
|
|
rs752706988 CA893255 |
5 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA340714097 rs1439006752 |
6 | I>T | No |
ClinGen TOPMed |
|
|
CA893254 rs765747182 |
10 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA893253 rs755546309 |
11 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA340714060 rs1167926810 |
11 | N>S | No |
ClinGen gnomAD |
|
|
rs754269005 CA893252 |
14 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA893251 rs766817040 |
15 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340714032 rs766817040 |
15 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340714014 rs1192481398 |
18 | K>E | No |
ClinGen gnomAD |
|
|
rs994046985 CA24323428 |
19 | M>I | No |
ClinGen TOPMed |
|
|
CA893249 rs772951153 |
21 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs767215058 CA893248 |
25 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374273516 CA893247 |
29 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768272377 CA893245 |
30 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA24323414 rs962905354 |
31 | A>D | No |
ClinGen Ensembl |
|
| TCGA novel | 33 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs115541740 CA893243 |
34 | P>A | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA340713902 rs1212685019 |
34 | P>L | No |
ClinGen TOPMed |
|
|
rs1570701650 CA340713895 |
36 | V>M | No |
ClinGen Ensembl |
|
|
CA893239 rs758557529 |
43 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1423947609 CA340713842 |
44 | D>Y | No |
ClinGen gnomAD |
|
|
rs779004397 CA893237 |
48 | L>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 48 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA893235 rs137855123 |
49 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs754991396 CA893236 |
49 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1570701475 CA340713804 |
50 | L>V | No |
ClinGen Ensembl |
|
|
rs1434278761 CA340713797 |
51 | G>V | No |
ClinGen gnomAD |
|
|
CA24323400 rs889418968 |
59 | E>Q | No |
ClinGen TOPMed |
|
|
rs767984058 CA893232 |
62 | I>T | No |
ClinGen ExAC |
|
|
rs202021264 RCV000121237 RCV001514178 CA160152 |
62 | I>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA340713716 rs1210409026 |
63 | R>K | No |
ClinGen gnomAD |
|
|
CA893231 rs761628399 |
65 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA893230 rs774112825 |
66 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA893228 rs762318572 |
69 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762318572 CA340713679 |
69 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781717039 CA893214 |
70 | I>V | No |
ClinGen ExAC gnomAD |
|
|
COSM1717658 rs367997081 CA893212 |
71 | S>C | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
| TCGA novel | 72 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA893211 rs763612181 |
76 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 77 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA23926788 rs200161963 |
78 | F>L | No |
ClinGen 1000Genomes |
|
| TCGA novel | 79 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340679148 rs529625257 |
81 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA893208 rs529625257 |
81 | Y>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA893207 rs374624103 |
82 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1287667661 CA340679129 |
82 | D>G | No |
ClinGen gnomAD |
|
|
rs770735783 CA893205 |
83 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs998744051 CA23926783 |
84 | N>T | No |
ClinGen Ensembl |
|
|
CA340679073 rs1474391816 |
85 | T>P | No |
ClinGen gnomAD |
|
|
CA893203 rs774563390 |
89 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs768706312 CA893202 |
93 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768706312 CA340678936 |
93 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1272401704 CA340678919 |
94 | T>I | No |
ClinGen gnomAD |
|
|
CA893200 rs780068977 |
95 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs769890595 CA893199 |
96 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1265709653 RCV001302055 CA340678899 |
96 | T>I | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA340678903 rs1265709653 |
96 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs769890595 CA340678907 |
96 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs757725554 CA893196 |
97 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781744573 CA893197 |
97 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA340678837 rs1366562603 |
99 | D>E | No |
ClinGen gnomAD |
|
|
CA893193 rs758043101 |
100 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs202003827 CA23926717 |
101 | M>T | No |
ClinGen 1000Genomes |
|
|
rs1320163960 CA340678824 |
101 | M>V | No |
ClinGen TOPMed |
|
| TCGA novel | 103 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs532214548 CA893191 |
104 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA893190 rs532214548 |
104 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs752389823 CA893192 |
104 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1461694087 CA340678769 |
106 | H>Y | No |
ClinGen gnomAD |
|
|
CA893188 rs766239143 |
108 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA893177 rs747503301 |
112 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA340677962 rs1278612499 |
114 | T>A | No |
ClinGen TOPMed |
|
|
CA340677946 rs1211018428 |
116 | W>S | No |
ClinGen TOPMed |
|
|
CA893173 rs778588460 |
119 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1557653616 CA340677921 |
120 | N>D | No |
ClinGen Ensembl |
|
|
CA340677919 rs1420309164 |
120 | N>S | No |
ClinGen gnomAD |
|
|
rs1180823763 CA340677914 |
121 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs199914339 CA893171 |
122 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765863050 CA893170 |
123 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA893169 rs756114832 |
124 | Q>L | No |
ClinGen ExAC TOPMed |
|
|
rs1456317552 COSM911573 CA340677861 |
128 | R>H | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA340677858 rs1205400556 |
129 | H>Y | No |
ClinGen gnomAD |
|
|
CA340677841 rs1485117548 |
131 | P>R | No |
ClinGen gnomAD |
|
|
rs767260882 CA893168 |
134 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA893167 rs767260882 |
134 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA340677820 rs1557653544 |
134 | Q>R | No |
ClinGen Ensembl |
|
| TCGA novel | 135 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 136 | N>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA893166 rs761624862 |
137 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA893163 rs35237903 |
138 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1275959400 CA340677792 |
138 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA893165 rs568190500 |
138 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA893162 rs776909862 |
139 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1310136072 CA340677770 |
141 | K>R | No |
ClinGen gnomAD |
|
|
rs747560156 CA893160 |
142 | K>N | No |
ClinGen ExAC |
|
|
CA893161 rs369863159 |
142 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 143 | I>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA893158 rs772353200 |
143 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA893159 rs773719934 |
143 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA340677744 rs1327511385 |
145 | D>G | No |
ClinGen TOPMed |
|
|
CA340677732 rs1557653430 |
147 | T>S | No |
ClinGen Ensembl |
|
|
rs1157915101 CA340677714 |
150 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs763543398 CA23922913 |
153 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763543398 CA893156 |
153 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1308876456 CA340677169 |
164 | Y>C | No |
ClinGen gnomAD |
|
|
rs1209826340 CA340677128 |
167 | V>G | No |
ClinGen gnomAD |
|
|
CA340677074 rs1334600636 |
172 | P>S | No |
ClinGen gnomAD |
|
|
CA340677065 rs1288054059 |
173 | I>T | No |
ClinGen gnomAD |
|
|
CA893138 rs774843930 |
174 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1444835802 CA340677016 |
178 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA893136 rs373251481 |
178 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1557650255 COSM911570 CA340677010 |
179 | E>K | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA893134 rs769329006 |
182 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA893132 rs781009130 |
183 | H>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 193 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1166182040 CA340676900 |
194 | V>L | No |
ClinGen gnomAD |
|
|
CA340676859 rs777751808 |
200 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777751808 CA893129 |
200 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340676853 rs1570673230 |
201 | A>D | No |
ClinGen Ensembl |
|
|
rs758246645 CA893128 |
202 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA340676828 rs1201845023 |
204 | K>M | No |
ClinGen TOPMed |
|
| TCGA novel | 205 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA23920247 rs753207444 |
210 | E>Q | No |
ClinGen Ensembl |
|
|
rs767880569 CA23920242 |
212 | P>R | No |
ClinGen TOPMed |
|
|
rs1557650129 CA340676769 |
213 | K>E | No |
ClinGen Ensembl |
|
|
CA340676755 rs1322558849 |
214 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 217 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340676309 rs1370738353 |
217 | Y>H | No |
ClinGen gnomAD |
|
|
CA893103 rs764523308 |
219 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA893102 rs763324383 |
221 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA893100 rs370410494 |
225 | L>S | No |
ClinGen ESP ExAC TOPMed |
|
|
rs759274901 CA893099 |
226 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746452560 CA893096 |
233 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA23918915 rs1011933184 |
234 | L>F | No |
ClinGen gnomAD |
|
|
CA23918912 rs894792096 |
238 | M>L | No |
ClinGen Ensembl |
|
|
rs773295622 CA893095 |
239 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs772192582 CA893094 |
240 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA340676010 rs748091769 |
242 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1726349 CA893093 rs748091769 |
242 | N>S | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA340675864 rs1210692562 |
249 | K>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 251 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1328342539 CA340675817 |
253 | N>D | No |
ClinGen gnomAD |
|
|
rs963853293 CA23918891 |
253 | N>S | No |
ClinGen TOPMed |
|
|
rs1229940535 CA340675653 |
259 | S>C | No |
ClinGen gnomAD |
|
|
rs778805182 CA893092 |
259 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746120026 CA893090 |
261 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 262 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375997338 CA893089 |
263 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757366573 CA893088 |
264 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1332564295 CA340675546 |
265 | D>H | No |
ClinGen TOPMed |
|
| TCGA novel | 270 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340675392 rs1376174679 |
273 | T>I | No |
ClinGen TOPMed |
|
|
CA340675254 rs1306770096 |
282 | G>A | No |
ClinGen TOPMed |
|
| TCGA novel | 286 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753173252 CA893084 |
288 | T>I | No |
ClinGen ExAC TOPMed |
|
|
rs759771653 CA893082 |
290 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs765889808 CA893080 |
291 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1271347866 CA340675131 |
292 | L>R | No |
ClinGen TOPMed |
|
|
CA23918802 rs944169508 |
294 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1266160941 CA340675120 |
294 | S>T | No |
ClinGen gnomAD |
|
| TCGA novel | 298 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772923219 CA893078 |
299 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1242197821 CA340675036 |
301 | W>C | No |
ClinGen gnomAD |
|
|
rs771675518 CA893077 |
301 | W>L | No |
ClinGen ExAC gnomAD |
|
|
rs1341838591 CA340675022 |
303 | H>N | No |
ClinGen gnomAD |
|
|
CA893076 rs748142963 COSM911565 |
304 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs748142963 CA340675001 |
304 | S>W | No |
ClinGen ExAC gnomAD |
|
|
rs1365195531 CA340674994 |
305 | N>S | No |
ClinGen gnomAD |
|
|
rs373142876 CA893073 |
307 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 308 | G>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1570668379 CA340674933 |
309 | N>S | No |
ClinGen Ensembl |
|
|
CA893070 rs568014073 COSM194241 |
310 | V>I | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA23918731 rs904336241 |
311 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs914598730 CA23918725 |
312 | Y>C | No |
ClinGen Ensembl |
|
|
rs777873085 CA893069 |
312 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA340674878 rs1304389880 |
313 | Y>C | No |
ClinGen gnomAD |
|
|
CA893068 rs758451418 |
314 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1190397183 CA340674840 |
315 | V>A | No |
ClinGen gnomAD |
|
|
rs1416735799 CA340674845 |
315 | V>L | No |
ClinGen TOPMed |
|
|
CA893067 rs753226169 |
316 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1266431195 CA340674744 |
321 | L>F | No |
ClinGen gnomAD |
|
|
rs1207783359 CA340674692 |
324 | Q>L | No |
ClinGen gnomAD |
|
|
CA893066 rs779248724 |
328 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA340674210 rs1285092250 |
334 | V>A | No |
ClinGen TOPMed |
|
|
CA340674179 rs1557645954 |
336 | K>E | No |
ClinGen Ensembl |
|
|
rs1378023815 CA340674165 |
337 | E>K | No |
ClinGen gnomAD |
|
| rs1181132297 | 339 | N>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1214583839 CA340674114 |
340 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs958983466 CA23917722 |
343 | R>Q | No |
ClinGen gnomAD |
|
|
rs763659890 CA893039 |
343 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 345 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369910049 CA893038 |
350 | H>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs966220006 CA23917705 |
353 | D>V | No |
ClinGen TOPMed |
|
|
rs561562970 CA893037 |
354 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs559606416 CA893036 |
354 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 357 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1195291565 CA340673857 |
357 | N>S | No |
ClinGen TOPMed |
|
|
CA893035 rs376472861 |
359 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340673777 rs200049537 |
360 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1290427088 CA340673772 |
360 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA893032 rs572559595 |
362 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA340673746 rs1319056562 |
362 | E>Q | No |
ClinGen TOPMed |
|
|
rs768757277 CA893031 |
364 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 366 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 367 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 367 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780665296 CA893029 |
367 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340673525 rs1455440071 |
371 | E>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 374 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 374 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781682542 CA893026 |
375 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs201432491 CA893025 |
383 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340673265 rs1472237426 |
383 | S>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 389 | N>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1570653277 CA340671742 |
393 | E>K | No |
ClinGen Ensembl |
|
|
rs1289234871 CA340671722 |
395 | K>Q | No |
ClinGen gnomAD |
|
|
CA23915039 rs938968778 |
396 | L>P | No |
ClinGen TOPMed |
|
|
CA340671674 rs753751477 |
399 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766108549 CA892999 |
400 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA23914997 rs764314225 |
401 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs927461592 COSM312103 CA23914996 |
401 | E>D | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs764314225 CA892996 |
401 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764314225 CA892997 |
401 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA892995 rs763069061 |
402 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA892994 rs549682132 |
407 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1187538700 CA340671587 |
409 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 412 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1490560356 CA340671530 |
414 | R>W | No |
ClinGen gnomAD |
|
|
CA340671505 rs1203027367 |
416 | T>I | No |
ClinGen gnomAD |
|
|
CA892988 rs777303853 |
417 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1388258801 CA340671446 |
422 | Y>C | No |
ClinGen TOPMed |
|
|
CA340671433 rs1218475707 |
423 | L>R | No |
ClinGen gnomAD |
|
|
CA892986 rs747767226 |
426 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1331579419 CA340671215 |
427 | V>A | No |
ClinGen TOPMed |
|
|
CA340671220 rs1369499617 |
427 | V>M | No |
ClinGen gnomAD |
|
|
CA340671170 rs1356850483 |
430 | P>L | No |
ClinGen gnomAD |
|
| rs755650243 | 430 | P>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs755650243 | 431 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375122732 COSM1343911 CA892979 |
433 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 439 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1570652817 CA340670991 |
440 | C>W | No |
ClinGen Ensembl |
|
|
CA340670801 rs1251366811 |
447 | E>D | No |
ClinGen gnomAD |
|
|
COSM1343910 CA892957 rs765489448 |
449 | A>T | large_intestine Variant assessed as Somatic; 4.639e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA892956 rs759703507 |
450 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs754010492 CA892955 |
451 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766366272 CA340670756 |
451 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs767899688 CA892951 |
454 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1240783724 CA340670724 |
454 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 457 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA892949 rs774002055 |
459 | E>K | Variant assessed as Somatic; 0.0005566 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA340670642 rs1388402406 |
461 | G>E | No |
ClinGen gnomAD |
|
|
CA892946 rs375956046 COSM1255138 |
464 | V>M | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA23913361 rs866286005 |
466 | R>G | No |
ClinGen Ensembl |
|
|
rs1295507016 CA340670566 |
468 | S>N | No |
ClinGen TOPMed |
|
|
CA340670544 rs1353735131 |
470 | T>A | No |
ClinGen TOPMed |
|
|
CA892944 rs745842082 |
470 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA340670535 rs1387066409 |
471 | D>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 471 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1184098450 CA340670497 |
474 | N>D | No |
ClinGen gnomAD |
|
|
CA892942 rs757126615 |
475 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1570648469 CA340670458 |
477 | M>T | No |
ClinGen Ensembl |
|
|
rs750733172 CA892941 |
477 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1193986343 CA340670417 |
480 | T>I | No |
ClinGen TOPMed |
|
|
rs1485872792 CA340670404 |
481 | C>W | No |
ClinGen TOPMed |
|
|
rs766501924 CA892937 |
482 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 483 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA892936 rs756106505 |
483 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA340670370 rs1471834988 |
484 | K>N | No |
ClinGen gnomAD |
|
|
CA23912217 rs918969440 |
488 | V>M | No |
ClinGen TOPMed |
|
| TCGA novel | 489 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1169541573 CA340669792 |
489 | Q>E | No |
ClinGen gnomAD |
|
|
rs764468267 CA892914 |
491 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA892912 rs752402320 |
492 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 500 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA892910 rs759213859 |
500 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA892909 rs776347560 |
501 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA340669614 rs1340618087 |
505 | G>S | No |
ClinGen gnomAD |
|
|
rs201595595 CA892908 |
506 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA892907 rs145174573 |
507 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA23912187 rs962961951 |
508 | S>G | No |
ClinGen TOPMed |
|
|
rs1015869335 CA23912183 |
508 | S>T | No |
ClinGen TOPMed |
|
|
rs1004358455 CA23912177 |
509 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA892905 rs747839270 |
510 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA892903 rs769973166 |
511 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs368776025 CA892902 |
512 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA892900 rs757281554 |
514 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769801111 CA892899 |
514 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769801111 CA23912163 |
514 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs968284426 CA23912162 |
515 | S>I | No |
ClinGen Ensembl |
|
|
rs778190555 CA892898 |
515 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA892895 rs765629959 |
522 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1202224156 CA340669433 |
523 | M>I | No |
ClinGen gnomAD |
|
|
rs759154184 CA892894 |
523 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA23912118 rs996973865 |
528 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA892890 COSM1211219 rs773295685 |
532 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs771960711 COSM1645298 CA892889 |
532 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs761801070 CA892888 |
533 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA340669324 rs1454416872 |
534 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA892886 rs768472936 |
536 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA892887 rs554046469 |
536 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1373387449 CA340669272 |
539 | M>V | No |
ClinGen Ensembl |
|
| TCGA novel | 541 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340669241 rs1306467125 |
542 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA340669232 rs1335243328 |
543 | C>Y | No |
ClinGen TOPMed |
|
|
rs746108162 CA892885 |
547 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1409622807 CA340669190 |
549 | R>Q | No |
ClinGen gnomAD |
|
|
rs763829543 CA892869 |
551 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA892867 rs776855575 |
553 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747227844 CA892865 |
558 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1360162882 CA340668756 |
563 | E>D | No |
ClinGen gnomAD |
|
|
rs1016297399 CA23910008 |
564 | W>R | No |
ClinGen Ensembl |
|
|
rs1478258677 CA340668732 |
565 | Q>H | No |
ClinGen TOPMed |
|
|
rs773205996 CA892864 |
566 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs961932195 CA23910003 |
567 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1006617264 CA23910002 |
568 | Y>C | No |
ClinGen Ensembl |
|
|
CA892862 rs748626914 |
569 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 573 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1380015493 CA340668641 |
576 | D>E | No |
ClinGen TOPMed |
|
|
rs779408869 CA340668647 |
576 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779408869 CA892861 |
576 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779408869 CA340668646 |
576 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340668639 rs755406627 |
577 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371342094 CA892858 |
580 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA23909976 rs1026413757 |
581 | K>N | No |
ClinGen Ensembl |
|
|
rs1422122219 CA340668593 |
584 | V>M | No |
ClinGen gnomAD |
|
|
CA892856 rs750064617 |
585 | Q>R | No |
ClinGen ExAC gnomAD |
|
| rs199920803 | 586 | G>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA23904686 rs201299733 |
592 | G>V | No |
ClinGen 1000Genomes |
|
|
rs1163622258 CA340668253 COSM41774 |
593 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs758372896 CA892834 |
597 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374269002 CA892833 |
598 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1424896370 CA340668188 |
603 | M>K | No |
ClinGen gnomAD |
|
| TCGA novel | 605 | Y>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA892832 rs555662015 |
606 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA23904656 rs949593615 |
606 | K>Q | No |
ClinGen Ensembl |
|
|
CA892831 rs759288391 |
607 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs750622516 CA892830 |
608 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA892828 rs761936174 |
611 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 613 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs534249030 CA892827 |
614 | E>K | No |
ClinGen 1000Genomes ExAC |
|
| rs1339036568 | 616 | K>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1570627580 CA340668067 |
620 | I>T | No |
ClinGen Ensembl |
|
| TCGA novel | 624 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1157084121 CA340668043 |
624 | L>V | No |
ClinGen gnomAD |
|
|
CA892824 rs776096851 |
625 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA340668028 rs1226878585 |
626 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 628 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770285426 CA892823 |
629 | R>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 629 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1405083451 CA340667955 |
635 | F>S | No |
ClinGen TOPMed |
|
|
rs1170528800 CA340667957 |
635 | F>V | No |
ClinGen TOPMed |
|
|
rs746698120 CA892801 |
636 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA340667949 rs1293822398 |
636 | F>Y | No |
ClinGen gnomAD |
|
|
rs1362843020 CA340667940 |
637 | E>G | No |
ClinGen gnomAD |
|
|
rs771577636 CA892799 |
638 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs947070340 CA23904136 |
639 | A>V | No |
ClinGen TOPMed |
|
|
CA892798 rs747712245 |
640 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs989507474 CA23904117 |
641 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs754980003 CA892796 RCV001339941 |
642 | M>T | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
COSM911559 rs749155017 CA892795 |
643 | R>G | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA23904107 rs374267637 |
644 | Q>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1490687946 CA340667854 |
650 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA892791 rs758681867 |
654 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA892789 rs375353661 |
656 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340667794 COSM1723119 rs1403227052 |
659 | R>H | Variant assessed as Somatic; 0.0 impact. NS [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
RCV001302325 CA892787 rs368904859 |
660 | D>N | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA892785 rs760966244 |
661 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA892767 rs766740839 |
663 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1477249730 CA340667749 |
664 | I>T | No |
ClinGen gnomAD |
|
|
rs372090845 CA23903517 |
665 | M>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1204510385 CA340667705 |
669 | F>V | No |
ClinGen TOPMed |
|
|
rs895867982 CA23903506 |
670 | V>M | No |
ClinGen Ensembl |
|
|
rs1260420631 CA340667671 |
672 | G>R | No |
ClinGen gnomAD |
|
|
CA892765 rs750797609 |
672 | G>S | No |
ClinGen ExAC |
|
| TCGA novel | 673 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1057194115 CA23903498 |
675 | L>V | No |
ClinGen Ensembl |
|
|
CA340667626 rs1481304776 |
677 | L>V | No |
ClinGen TOPMed |
|
|
CA340667617 rs1202162519 |
678 | F>L | No |
ClinGen gnomAD |
|
|
CA892764 CA340667604 rs749721569 |
679 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340667581 rs1204670695 |
681 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs2230587 CA340667551 |
683 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA340667530 rs1172132353 |
685 | V>D | No |
ClinGen Ensembl |
|
|
CA340667536 rs1483386482 |
685 | V>I | No |
ClinGen gnomAD |
|
|
CA340667506 rs1312736393 |
688 | T>A | No |
ClinGen gnomAD |
|
|
rs748688004 CA340667492 |
689 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748688004 CA892759 |
689 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 691 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs921175983 CA23903477 |
693 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA23903465 rs117679986 |
701 | A>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs377757935 CA892733 |
710 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340667156 rs1224666263 |
714 | N>S | No |
ClinGen gnomAD |
|
|
rs1266817464 CA340667159 |
714 | N>Y | No |
ClinGen gnomAD |
|
|
CA340667098 rs1570621203 |
719 | N>T | No |
ClinGen Ensembl |
|
|
CA23903131 rs191513286 |
721 | L>I | No |
ClinGen 1000Genomes |
|
| TCGA novel | 722 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1307956862 CA340667051 COSM3741347 |
724 | R>C | liver Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA892732 rs780016058 |
724 | R>P | No |
ClinGen ExAC |
|
|
CA23903127 rs924513221 |
726 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA23903118 rs750933573 |
727 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340667020 rs1170334595 |
727 | I>T | No |
ClinGen gnomAD |
|
|
CA892729 rs530773982 |
728 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA340667018 rs1570621092 |
728 | D>N | No |
ClinGen Ensembl |
|
| TCGA novel | 730 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340666981 rs1357756750 |
733 | P>A | No |
ClinGen TOPMed |
|
|
rs751933525 CA892727 |
735 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340666967 rs1304371483 |
735 | I>V | No |
ClinGen gnomAD |
|
|
CA892726 rs764489940 |
737 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA892724 rs201562675 |
739 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA892725 rs759709239 |
739 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA340666932 rs1570620963 |
740 | P>S | No |
ClinGen Ensembl |
|
| TCGA novel | 740 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA892722 rs369498502 |
741 | G>S | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 743 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA892721 rs776727115 |
744 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA23903055 rs774525128 |
745 | T>A | No |
ClinGen TOPMed |
|
|
rs587778407 RCV000121232 CA160142 |
745 | T>M | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA340666879 rs1202229172 |
749 | R>M | No |
ClinGen gnomAD |
|
|
rs1185371179 CA340666867 |
751 | E>K | No |
ClinGen TOPMed |
|
|
rs1398232072 CA340666836 |
753 | I>T | No |
ClinGen TOPMed |
|
|
rs770067159 CA892695 |
754 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1304838920 COSM911557 CA340666825 |
755 | R>* | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA340666748 rs1245661651 |
766 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA340666741 rs1557625887 |
767 | S>P | No |
ClinGen Ensembl |
|
|
CA340666732 rs1384989338 |
768 | K>R | No |
ClinGen TOPMed |
|
|
CA892694 rs746058311 |
770 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA340666672 rs1570619359 |
777 | W>G | No |
ClinGen Ensembl |
|
|
rs78190282 CA23902604 |
780 | G>* | No |
ClinGen Ensembl |
|
|
CA892691 COSM41759 rs747502464 |
782 | T>M | lung large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA340666624 rs1311807818 |
784 | W>* | No |
ClinGen TOPMed |
|
| TCGA novel | 786 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340666610 rs1182111023 |
786 | I>V | No |
ClinGen gnomAD |
|
|
rs570094081 CA892687 |
789 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA892688 rs570094081 |
789 | N>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1456930967 CA340666575 |
791 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 793 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 794 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 795 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs940419823 CA23902562 |
796 | D>G | No |
ClinGen TOPMed |
|
|
CA340666528 rs1356522608 |
797 | K>R | No |
ClinGen gnomAD |
|
|
CA23902558 rs929273412 |
798 | T>M | No |
ClinGen Ensembl |
|
| TCGA novel | 802 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 803 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 805 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 806 | Y>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340666392 rs1293957402 |
809 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1293957402 CA340666394 |
809 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs949405116 CA23901363 |
809 | R>W | No |
ClinGen Ensembl |
|
|
CA892662 rs371560215 |
810 | C>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1477909227 CA340666326 |
816 | S>P | No |
ClinGen gnomAD |
|
|
rs1427991134 CA340666314 |
817 | C>Y | No |
ClinGen gnomAD |
|
|
CA340666276 rs1270068749 |
820 | L>V | No |
ClinGen gnomAD |
|
|
rs1177804220 CA340666268 |
821 | A>D | No |
ClinGen gnomAD |
|
|
rs1200775279 CA340666224 |
825 | T>S | No |
ClinGen gnomAD |
|
|
rs150021823 CA892660 |
826 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1243326 rs199886153 CA892659 |
826 | R>H | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs754073577 CA892658 COSM1343906 |
828 | M>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 829 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340666150 rs766685810 |
831 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766685810 CA892656 |
831 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA892655 rs760807400 |
832 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA160144 rs187043211 RCV001348046 RCV000121233 |
833 | N>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1426296083 CA340666116 COSM1185479 |
834 | Q>R | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA340666106 rs1415634483 |
835 | R>T | No |
ClinGen TOPMed |
|
| TCGA novel | 837 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA23901317 rs181919006 COSM911554 |
839 | R>* | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs181919006 CA892654 |
839 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 840 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340666028 rs1295294134 |
842 | M>I | No |
ClinGen TOPMed |
|
|
CA892653 rs762437803 |
845 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340665973 rs1465876102 |
847 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 855 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA892636 rs750567693 |
857 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA892635 rs573985377 |
860 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs202179869 CA892634 |
860 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs375979659 CA892633 |
861 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs371295663 CA892632 |
862 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1240735714 CA340665693 |
869 | H>N | No |
ClinGen gnomAD |
|
| TCGA novel | 871 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1358494508 CA340665632 |
873 | R>H | No |
ClinGen gnomAD |
|
|
rs553794700 CA892628 |
878 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs776082057 CA892627 |
879 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340665441 rs1222343242 |
888 | K>Q | No |
ClinGen gnomAD |
|
|
CA340665434 rs1367578545 |
889 | V>I | No |
ClinGen gnomAD |
|
|
rs778030565 CA892597 |
893 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA892596 rs758343641 |
895 | D>E | No |
ClinGen ExAC |
|
|
rs1256962842 CA340665382 |
896 | P>H | No |
ClinGen gnomAD |
|
| TCGA novel | 897 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001325287 rs1654769285 |
897 | E>K | No |
ClinVar dbSNP |
|
|
CA23900248 rs1056363270 |
902 | G>R | No |
ClinGen Ensembl |
|
|
CA892594 rs368855745 |
903 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA340665325 rs1402720976 |
904 | Q>H | No |
ClinGen gnomAD |
|
|
rs374773383 CA892591 |
912 | P>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1324660438 CA340665268 |
913 | E>V | No |
ClinGen TOPMed |
|
|
rs778827938 CA892590 |
915 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000121235 rs539218457 CA160148 RCV001854630 |
917 | N>D | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
CA340665228 rs1478284623 |
919 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA340665229 rs1434592824 |
919 | I>V | No |
ClinGen TOPMed |
|
|
CA892589 rs771621700 |
920 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs373305681 CA23900229 |
922 | L>M | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 925 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340664528 rs1328417891 |
931 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 932 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA23900214 rs904855653 |
933 | Y>C | No |
ClinGen Ensembl |
|
|
CA340664452 rs1233781229 |
935 | E>A | No |
ClinGen TOPMed |
|
|
CA892584 rs780015120 |
936 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1448823015 CA340664014 |
951 | G>D | No |
ClinGen gnomAD |
|
|
CA340664021 rs1282601919 |
951 | G>S | No |
ClinGen TOPMed |
|
|
rs763015549 CA892566 |
952 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340663846 rs1163790865 |
961 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 966 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 968 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs898893357 CA23899229 |
969 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA23899225 rs1037782897 |
972 | K>N | No |
ClinGen TOPMed |
|
|
rs1260352479 CA340663695 |
972 | K>R | No |
ClinGen gnomAD |
|
|
rs34680086 CA892563 VAR_041715 |
973 | N>K | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA23899223 rs912477121 |
974 | K>R | No |
ClinGen TOPMed |
|
|
rs781131726 CA892562 |
975 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA892561 rs772224443 |
976 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA340663545 rs1320196357 |
979 | Q>* | No |
ClinGen gnomAD |
|
|
CA892560 rs748382768 |
984 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA892559 rs367582687 |
985 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1444361489 CA340663352 |
986 | Q>H | No |
ClinGen gnomAD |
|
| TCGA novel | 990 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA340663123 rs1241531326 |
991 | M>V | No |
ClinGen TOPMed |
|
| TCGA novel | 991 | M>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1457515837 CA340662961 |
995 | G>C | No |
ClinGen gnomAD |
|
|
rs1427072320 CA340662921 |
997 | R>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 998 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs897926965 CA23899037 |
1000 | V>I | No |
ClinGen Ensembl |
|
|
CA340662783 rs1340186470 |
1002 | R>Q | No |
ClinGen gnomAD |
|
|
rs1158877935 CA340662692 |
1006 | A>T | No |
ClinGen TOPMed |
|
|
rs1334382278 CA340662524 |
1013 | S>N | No |
ClinGen gnomAD |
|
|
CA340662509 rs1230988005 |
1013 | S>R | No |
ClinGen gnomAD |
|
| TCGA novel | 1016 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780073987 CA892536 |
1016 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA340662264 rs1374324844 |
1023 | G>S | No |
ClinGen gnomAD |
|
|
rs763865501 CA892530 |
1031 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763865501 CA23898988 |
1031 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1036 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs563790995 CA23898972 |
1038 | K>N | No |
ClinGen 1000Genomes |
|
|
rs759571109 CA340661985 |
1041 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759571109 CA892526 |
1041 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1180745512 CA340661991 |
1041 | R>W | No |
ClinGen gnomAD |
|
|
CA892525 rs776594227 |
1043 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA340661944 rs1422769239 |
1044 | P>S | No |
ClinGen gnomAD |
|
|
CA892499 rs759720363 |
1059 | Y>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1059 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1061 | A>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1013552862 CA23897973 |
1064 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1227169069 CA340660941 |
1070 | T>I | No |
ClinGen TOPMed |
|
|
rs1312589671 CA340660915 |
1072 | H>R | No |
ClinGen TOPMed |
|
|
CA23897956 rs946474538 |
1077 | Y>C | No |
ClinGen TOPMed |
|
|
rs896564935 CA23897959 |
1077 | Y>H | No |
ClinGen Ensembl |
|
|
CA23897948 rs1055212968 |
1079 | D>G | No |
ClinGen Ensembl |
|
|
rs868568603 CA23897952 |
1079 | D>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 1081 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA23897930 rs750143761 |
1082 | S>C | No |
ClinGen Ensembl |
|
|
rs1390420400 CA340660762 |
1083 | S>C | No |
ClinGen gnomAD |
|
|
rs747452827 CA892496 |
1085 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA340660329 rs1170125086 |
1088 | F>L | No |
ClinGen gnomAD |
|
|
rs765510200 CA892483 |
1090 | K>E | No |
ClinGen ExAC |
|
|
CA23897683 rs368218410 |
1090 | K>R | No |
ClinGen ESP |
|
|
rs1553157886 CA340660303 |
1092 | I>T | No |
ClinGen Ensembl |
|
|
rs966900307 CA23897679 |
1096 | H>R | No |
ClinGen Ensembl |
|
| TCGA novel | 1103 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1477623179 CA340660227 |
1104 | L>F | No |
ClinGen gnomAD |
|
|
rs776821801 CA892480 |
1106 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA340660203 rs1198988820 |
1107 | T>M | No |
ClinGen TOPMed |
|
|
CA340660205 rs1198988820 |
1107 | T>R | No |
ClinGen TOPMed |
|
|
rs1468673230 CA340660200 |
1108 | L>* | No |
ClinGen gnomAD |
|
|
CA892477 rs773790581 |
1111 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs772581480 CA892476 |
1112 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA892475 rs370434553 |
1113 | R>C | Variant assessed as Somatic; 0.0003259 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA340660162 rs774820863 |
1113 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA892474 rs774820863 |
1113 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs543134894 CA892472 |
1115 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs543134894 CA340660153 |
1115 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA892473 rs376079085 |
1115 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA23897647 rs368093469 |
1116 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA892470 rs755510930 |
1118 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs745818157 CA892469 |
1119 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA892468 rs781164057 |
1119 | N>K | No |
ClinGen ExAC |
|
|
CA340660120 rs1413899535 |
1121 | P>A | No |
ClinGen gnomAD |
|
|
CA23897626 rs1002130230 |
1121 | P>R | No |
ClinGen Ensembl |
|
|
CA340660118 rs1413899535 |
1121 | P>S | No |
ClinGen gnomAD |
|
|
rs757181632 CA892467 |
1123 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA892444 rs377646860 |
1126 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1361483855 CA340660057 |
1128 | M>I | No |
ClinGen TOPMed |
|
|
CA892442 rs756403898 |
1128 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA892441 rs750575304 |
1130 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1377092530 CA340660039 |
1131 | C>S | No |
ClinGen gnomAD |
|
|
rs1295192654 CA340660003 |
1133 | E>G | No |
ClinGen gnomAD |
|
|
rs767652390 CA892440 |
1134 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs770192397 CA23897219 |
1136 | P>T | No |
ClinGen Ensembl |
|
|
rs774929119 CA892438 |
1138 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1345526134 CA340659907 |
1140 | T>I | No |
ClinGen gnomAD |
|
|
rs1163638844 CA340659902 |
1141 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 1145 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764530686 CA892437 |
1145 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA892436 rs562521950 |
1146 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1419462326 CA340659819 |
1146 | I>V | No |
ClinGen gnomAD |
|
|
rs944229309 CA23897215 |
1148 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs944229309 CA340659779 |
1148 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA23897209 rs1049869622 |
1151 | A>E | No |
ClinGen TOPMed |
|
|
rs911387473 CA23897211 |
1151 | A>T | No |
ClinGen TOPMed |
|
|
CA892434 rs769371012 |
1154 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200563303 CA160150 RCV002055341 RCV000121236 |
1155 | K>Q | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
1 associated diseases with P23458
[MIM: 618999]: Autoinflammation, immune dysregulation, and eosinophilia (AIIDE)
An autosomal dominant disorder characterized by immune dysregulation, severe atopic dermatitis, and chronic gastrointestinal inflammation. Additional features include asthma, food or environmental allergies, as well as poor overall growth with short stature. . Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal dominant disorder characterized by immune dysregulation, severe atopic dermatitis, and chronic gastrointestinal inflammation. Additional features include asthma, food or environmental allergies, as well as poor overall growth with short stature. . Note=The disease is caused by variants affecting the gene represented in this entry.
4 regional properties for P23458
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.10.2 | Protein-tyrosine kinases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
9 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytoplasmic side of plasma membrane | The leaflet the plasma membrane that faces the cytoplasm and any proteins embedded or anchored in it or attached to its surface. |
| cytoskeleton | A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| endosome | A vacuole to which materials ingested by endocytosis are delivered. |
| extrinsic component of cytoplasmic side of plasma membrane | The component of a plasma membrane consisting of gene products and protein complexes that are loosely bound to its cytoplasmic surface, but not integrated into the hydrophobic region. |
| focal adhesion | A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ). |
| 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
8 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| CCR5 chemokine receptor binding | Binding to a CCR5 chemokine receptor. |
| growth hormone receptor binding | Binding to a growth hormone receptor. |
| metal ion binding | Binding to a metal ion. |
| non-membrane spanning protein tyrosine kinase activity | Catalysis of the reaction |
| protein phosphatase binding | Binding to a protein phosphatase. |
| protein tyrosine kinase activity | Catalysis of the reaction |
| ubiquitin protein ligase binding | Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins. |
22 GO annotations of biological process
| Name | Definition |
|---|---|
| cell differentiation | The cellular developmental process in which a relatively unspecialized cell, e.g. embryonic or regenerative cell, acquires specialized structural and/or functional features that characterize a specific cell. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
| cellular response to virus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a virus. |
| cytokine-mediated signaling pathway | The series of molecular signals initiated by the binding of a cytokine to a receptor on the surface of a cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| growth hormone receptor signaling pathway via JAK-STAT | The process in which STAT proteins (Signal Transducers and Activators of Transcription) are activated by members of the JAK (janus activated kinase) family of tyrosine kinases, following the binding of physiological ligands to the growth hormone receptor. Once activated, STATs dimerize and translocate to the nucleus and modulate the expression of target genes. |
| interleukin-11-mediated signaling pathway | The series of molecular signals initiated by the binding of interleukin-11 to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| interleukin-15-mediated signaling pathway | The series of molecular signals initiated by interleukin-15 binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| interleukin-2-mediated signaling pathway | The series of molecular signals initiated by interleukin-2 binding to its receptor on the surface of a cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| interleukin-4-mediated signaling pathway | The series of molecular signals initiated by interleukin-4 binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| interleukin-6-mediated signaling pathway | The series of molecular signals initiated by interleukin-6 binding to a receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| interleukin-9-mediated signaling pathway | The series of molecular signals initiated by interleukin-9 binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| intracellular signal transduction | The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. |
| positive regulation of homotypic cell-cell adhesion | Any process that activates or increases the frequency, rate, or extent of homotypic cell-cell adhesion. |
| positive regulation of protein localization to nucleus | Any process that activates or increases the frequency, rate or extent of protein localization to nucleus. |
| positive regulation of sprouting angiogenesis | Any process that activates or increases the frequency, rate or extent of sprouting angiogenesis. |
| protein localization to cell-cell junction | A process in which a protein is transported to, or maintained, in a location within a cell-cell junction. |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
| receptor signaling pathway via JAK-STAT | Any process in which STAT proteins (Signal Transducers and Activators of Transcription) and JAK (Janus Activated Kinase) proteins convey a signal to trigger a change in the activity or state of a cell. The receptor signaling pathway via JAK-STAT begins with activation of a receptor and proceeeds through STAT protein activation by members of the JAK family of tyrosine kinases. STAT proteins dimerize and subsequently translocate to the nucleus. The pathway ends with regulation of target gene expression by STAT proteins. |
| response to antibiotic | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an antibiotic stimulus. An antibiotic is a chemical substance produced by a microorganism which has the capacity to inhibit the growth of or to kill other microorganisms. |
| T-helper 17 cell lineage commitment | The process in which a CD4-positive, alpha-beta T cell becomes committed to becoming a T-helper 17 cell, a CD4-positive, alpha-beta T cell with the phenotype RORgamma-t-positive that produces IL-17. |
| type I interferon-mediated signaling pathway | The series of molecular signals initiated by type I interferon binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. Type I interferons include the interferon-alpha, beta, delta, episilon, zeta, kappa, tau, and omega gene families. |
| type II interferon-mediated signaling pathway | The series of molecular signals initiated by interferon-gamma binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. Interferon gamma is the only member of the type II interferon found so far. |
| type III interferon-mediated signaling pathway | The series of molecular signals initiated by type III interferon binding to its receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. Interferon lambda is the only member of the type III interferon found so far. |
76 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A0JNB0 | FYN | Tyrosine-protein kinase Fyn | Bos taurus (Bovine) | SS |
| Q0VBZ0 | CSK | Tyrosine-protein kinase CSK | Bos taurus (Bovine) | SS |
| Q3ZC95 | BTK | Tyrosine-protein kinase | Bos taurus (Bovine) | EV SS |
| P42683 | LCK | Proto-oncogene tyrosine-protein kinase LCK | Gallus gallus (Chicken) | SS |
| P41239 | CSK | Tyrosine-protein kinase CSK | Gallus gallus (Chicken) | SS |
| P00523 | SRC | Proto-oncogene tyrosine-protein kinase Src | Gallus gallus (Chicken) | EV |
| Q02977 | YRK | Proto-oncogene tyrosine-protein kinase Yrk | Gallus gallus (Chicken) | SS |
| Q8JH64 | BTK | Tyrosine-protein kinase BTK | Gallus gallus (Chicken) | SS |
| P09324 | YES1 | Tyrosine-protein kinase Yes | Gallus gallus (Chicken) | SS |
| Q05876 | FYN | Tyrosine-protein kinase Fyn | Gallus gallus (Chicken) | SS |
| Q75R65 | JAK2 | Tyrosine-protein kinase JAK2 | Gallus gallus (Chicken) | SS |
| P08630 | Btk | Tyrosine-protein kinase Btk | Drosophila melanogaster (Fruit fly) | SS |
| Q9V9J3 | Src42A | Tyrosine-protein kinase Src42A | Drosophila melanogaster (Fruit fly) | SS |
| P00528 | Src64B | Tyrosine-protein kinase Src64B | Drosophila melanogaster (Fruit fly) | SS |
| Q24592 | hop | Tyrosine-protein kinase hopscotch | Drosophila melanogaster (Fruit fly) | PR |
| P41240 | CSK | Tyrosine-protein kinase CSK | Homo sapiens (Human) | SS |
| P51451 | BLK | Tyrosine-protein kinase Blk | Homo sapiens (Human) | SS |
| P06239 | LCK | Tyrosine-protein kinase Lck | Homo sapiens (Human) | EV |
| P06241 | FYN | Tyrosine-protein kinase Fyn | Homo sapiens (Human) | SS |
| P51813 | BMX | Cytoplasmic tyrosine-protein kinase BMX | Homo sapiens (Human) | SS |
| P12931 | SRC | Proto-oncogene tyrosine-protein kinase Src | Homo sapiens (Human) | EV |
| P09769 | FGR | Tyrosine-protein kinase Fgr | Homo sapiens (Human) | SS |
| P42680 | TEC | Tyrosine-protein kinase Tec | Homo sapiens (Human) | SS |
| P42679 | MATK | Megakaryocyte-associated tyrosine-protein kinase | Homo sapiens (Human) | SS |
| Q08881 | ITK | Tyrosine-protein kinase ITK/TSK | Homo sapiens (Human) | EV |
| P07948 | LYN | Tyrosine-protein kinase Lyn | Homo sapiens (Human) | SS |
| Q13882 | PTK6 | Protein-tyrosine kinase 6 | Homo sapiens (Human) | EV |
| P08631 | HCK | Tyrosine-protein kinase HCK | Homo sapiens (Human) | EV |
| P07947 | YES1 | Tyrosine-protein kinase Yes | Homo sapiens (Human) | SS |
| P42685 | FRK | Tyrosine-protein kinase FRK | Homo sapiens (Human) | EV |
| Q06187 | BTK | Tyrosine-protein kinase BTK | Homo sapiens (Human) | EV |
| O60674 | JAK2 | Tyrosine-protein kinase JAK2 | Homo sapiens (Human) | EV |
| P29597 | TYK2 | Non-receptor tyrosine-protein kinase TYK2 | Homo sapiens (Human) | EV |
| P52333 | JAK3 | Tyrosine-protein kinase JAK3 | Homo sapiens (Human) | SS |
| Q9R117 | Tyk2 | Non-receptor tyrosine-protein kinase TYK2 | Mus musculus (Mouse) | SS |
| P08103 | Hck | Tyrosine-protein kinase HCK | Mus musculus (Mouse) | SS |
| P16277 | Blk | Tyrosine-protein kinase Blk | Mus musculus (Mouse) | SS |
| Q62270 | Srms | Tyrosine-protein kinase Srms | Mus musculus (Mouse) | SS |
| Q64434 | Ptk6 | Protein-tyrosine kinase 6 | Mus musculus (Mouse) | SS |
| P05480 | Src | Proto-oncogene tyrosine-protein kinase Src | Mus musculus (Mouse) | EV |
| P14234 | Fgr | Tyrosine-protein kinase Fgr | Mus musculus (Mouse) | SS |
| P35991 | Btk | Tyrosine-protein kinase BTK | Mus musculus (Mouse) | EV |
| P41241 | Csk | Tyrosine-protein kinase CSK | Mus musculus (Mouse) | EV |
| P25911 | Lyn | Tyrosine-protein kinase Lyn | Mus musculus (Mouse) | EV |
| Q62137 | Jak3 | Tyrosine-protein kinase JAK3 | Mus musculus (Mouse) | SS |
| P06240 | Lck | Proto-oncogene tyrosine-protein kinase LCK | Mus musculus (Mouse) | SS |
| P24604 | Tec | Tyrosine-protein kinase Tec | Mus musculus (Mouse) | SS |
| Q04736 | Yes1 | Tyrosine-protein kinase Yes | Mus musculus (Mouse) | SS |
| P39688 | Fyn | Tyrosine-protein kinase Fyn | Mus musculus (Mouse) | SS |
| Q03526 | Itk | Tyrosine-protein kinase ITK/TSK | Mus musculus (Mouse) | SS |
| P41242 | Matk | Megakaryocyte-associated tyrosine-protein kinase | Mus musculus (Mouse) | SS |
| Q922K9 | Frk | Tyrosine-protein kinase FRK | Mus musculus (Mouse) | SS |
| Q62120 | Jak2 | Tyrosine-protein kinase JAK2 | Mus musculus (Mouse) | EV |
| P52332 | Jak1 | Tyrosine-protein kinase JAK1 | Mus musculus (Mouse) | SS |
| A1Y2K1 | FYN | Tyrosine-protein kinase Fyn | Sus scrofa (Pig) | SS |
| O19064 | JAK2 | Tyrosine-protein kinase JAK2 | Sus scrofa (Pig) | SS |
| Q62662 | Frk | Tyrosine-protein kinase FRK | Rattus norvegicus (Rat) | SS |
| Q62844 | Fyn | Tyrosine-protein kinase Fyn | Rattus norvegicus (Rat) | SS |
| Q07014 | Lyn | Tyrosine-protein kinase Lyn | Rattus norvegicus (Rat) | SS |
| P50545 | Hck | Tyrosine-protein kinase HCK | Rattus norvegicus (Rat) | SS |
| Q9WUD9 | Src | Proto-oncogene tyrosine-protein kinase Src | Rattus norvegicus (Rat) | SS |
| Q01621 | Lck | Proto-oncogene tyrosine-protein kinase LCK | Rattus norvegicus (Rat) | SS |
| Q6P6U0 | Fgr | Tyrosine-protein kinase Fgr | Rattus norvegicus (Rat) | SS |
| Q62689 | Jak2 | Tyrosine-protein kinase JAK2 | Rattus norvegicus (Rat) | SS |
| Q63272 | Jak3 | Tyrosine-protein kinase JAK3 | Rattus norvegicus (Rat) | SS |
| P32577 | Csk | Tyrosine-protein kinase CSK | Rattus norvegicus (Rat) | SS |
| P41243 | Matk | Megakaryocyte-associated tyrosine-protein kinase | Rattus norvegicus (Rat) | SS |
| F1LM93 | Yes1 | Tyrosine-protein kinase Yes | Rattus norvegicus (Rat) | SS |
| O45539 | src-2 | Tyrosine protein-kinase src-2 | Caenorhabditis elegans | SS |
| G5ECJ6 | csk-1 | Tyrosine-protein kinase csk-1 | Caenorhabditis elegans | SS |
| G5EE56 | src-1 | Tyrosine protein-kinase src-1 | Caenorhabditis elegans | SS |
| A1A5H8 | yes1 | Tyrosine-protein kinase yes | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| F1RDG9 | fynb | Tyrosine-protein kinase fynb | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| Q1JPZ3 | src | Proto-oncogene tyrosine-protein kinase Src | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| Q6EWH2 | fyna | Tyrosine-protein kinase fyna | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| O12990 | jak1 | Tyrosine-protein kinase JAK1 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MQYLNIKEDC | NAMAFCAKMR | SSKKTEVNLE | APEPGVEVIF | YLSDREPLRL | GSGEYTAEEL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| CIRAAQACRI | SPLCHNLFAL | YDENTKLWYA | PNRTITVDDK | MSLRLHYRMR | FYFTNWHGTN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| DNEQSVWRHS | PKKQKNGYEK | KKIPDATPLL | DASSLEYLFA | QGQYDLVKCL | APIRDPKTEQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DGHDIENECL | GMAVLAISHY | AMMKKMQLPE | LPKDISYKRY | IPETLNKSIR | QRNLLTRMRI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NNVFKDFLKE | FNNKTICDSS | VSTHDLKVKY | LATLETLTKH | YGAEIFETSM | LLISSENEMN |
| 310 | 320 | 330 | 340 | 350 | 360 |
| WFHSNDGGNV | LYYEVMVTGN | LGIQWRHKPN | VVSVEKEKNK | LKRKKLENKH | KKDEEKNKIR |
| 370 | 380 | 390 | 400 | 410 | 420 |
| EEWNNFSYFP | EITHIVIKES | VVSINKQDNK | KMELKLSSHE | EALSFVSLVD | GYFRLTADAH |
| 430 | 440 | 450 | 460 | 470 | 480 |
| HYLCTDVAPP | LIVHNIQNGC | HGPICTEYAI | NKLRQEGSEE | GMYVLRWSCT | DFDNILMTVT |
| 490 | 500 | 510 | 520 | 530 | 540 |
| CFEKSEQVQG | AQKQFKNFQI | EVQKGRYSLH | GSDRSFPSLG | DLMSHLKKQI | LRTDNISFML |
| 550 | 560 | 570 | 580 | 590 | 600 |
| KRCCQPKPRE | ISNLLVATKK | AQEWQPVYPM | SQLSFDRILK | KDLVQGEHLG | RGTRTHIYSG |
| 610 | 620 | 630 | 640 | 650 | 660 |
| TLMDYKDDEG | TSEEKKIKVI | LKVLDPSHRD | ISLAFFEAAS | MMRQVSHKHI | VYLYGVCVRD |
| 670 | 680 | 690 | 700 | 710 | 720 |
| VENIMVEEFV | EGGPLDLFMH | RKSDVLTTPW | KFKVAKQLAS | ALSYLEDKDL | VHGNVCTKNL |
| 730 | 740 | 750 | 760 | 770 | 780 |
| LLAREGIDSE | CGPFIKLSDP | GIPITVLSRQ | ECIERIPWIA | PECVEDSKNL | SVAADKWSFG |
| 790 | 800 | 810 | 820 | 830 | 840 |
| TTLWEICYNG | EIPLKDKTLI | EKERFYESRC | RPVTPSCKEL | ADLMTRCMNY | DPNQRPFFRA |
| 850 | 860 | 870 | 880 | 890 | 900 |
| IMRDINKLEE | QNPDIVSEKK | PATEVDPTHF | EKRFLKRIRD | LGEGHFGKVE | LCRYDPEGDN |
| 910 | 920 | 930 | 940 | 950 | 960 |
| TGEQVAVKSL | KPESGGNHIA | DLKKEIEILR | NLYHENIVKY | KGICTEDGGN | GIKLIMEFLP |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| SGSLKEYLPK | NKNKINLKQQ | LKYAVQICKG | MDYLGSRQYV | HRDLAARNVL | VESEHQVKIG |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| DFGLTKAIET | DKEYYTVKDD | RDSPVFWYAP | ECLMQSKFYI | ASDVWSFGVT | LHELLTYCDS |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| DSSPMALFLK | MIGPTHGQMT | VTRLVNTLKE | GKRLPCPPNC | PDEVYQLMRK | CWEFQPSNRT |
| 1150 | |||||
| SFQNLIEGFE | ALLK |