Q14679
PR
Gene name |
TTLL4 |
Protein name |
Tubulin monoglutamylase TTLL4 |
Names |
Protein monoglutamylase TTLL4, Tubulin--tyrosine ligase-like protein 4 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9654 |
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
2 structures for Q14679
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 5T6X | X-ray | 169 A | C | 295-304 | PDB |
| AF-Q14679-F1 | Predicted | AlphaFoldDB |
1000 variants for Q14679
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs558671258 CA2111517 |
2 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1429483422 CA350595550 |
2 | A>V | No |
ClinGen gnomAD |
|
|
rs764294698 CA2111519 |
6 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2111520 rs368175704 |
7 | Q>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2111521 rs757483368 |
8 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA350595819 rs1371265843 |
9 | Y>* | No |
ClinGen TOPMed |
|
|
rs781293566 CA2111522 |
11 | I>V | No |
ClinGen ExAC |
|
|
rs778775604 CA2111525 |
14 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2111526 rs747956757 |
14 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA65810179 rs376884357 |
15 | Q>* | No |
ClinGen TOPMed |
|
|
CA65810182 rs11542786 VAR_031464 |
17 | N>S | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs1243924675 CA350596151 |
18 | S>G | No |
ClinGen gnomAD |
|
|
CA350596168 rs1258362436 |
18 | S>I | No |
ClinGen TOPMed |
|
|
rs372440850 CA2111530 |
20 | K>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2111529 rs372440850 |
20 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1474130943 CA350596306 |
23 | G>V | No |
ClinGen gnomAD |
|
|
CA2111531 rs770517720 |
25 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350596390 rs1250278616 |
25 | S>L | No |
ClinGen TOPMed |
|
|
rs776173312 CA2111532 |
26 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1361927096 CA350596433 |
28 | V>I | No |
ClinGen gnomAD |
|
|
CA350596472 rs1227276615 |
30 | A>T | No |
ClinGen TOPMed |
|
|
CA2111534 rs139343526 |
31 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2111537 rs144380659 |
33 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350596541 rs1439219635 |
33 | P>S | No |
ClinGen TOPMed |
|
|
rs3731877 CA2111538 VAR_031465 |
34 | E>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA65810212 rs894844437 |
36 | P>R | No |
ClinGen Ensembl |
|
|
CA2111539 rs761992701 |
36 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350596652 rs750503144 |
37 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767683905 CA2111540 |
37 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750503144 CA2111541 |
37 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752627930 CA2111544 |
38 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2111545 rs758435339 |
39 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA350596722 rs1238565877 |
40 | R>G | No |
ClinGen TOPMed |
|
|
CA350596770 rs1183460308 |
42 | W>* | No |
ClinGen TOPMed |
|
|
CA2111547 rs537717303 |
43 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1469395670 CA350596830 |
44 | Q>R | No |
ClinGen gnomAD |
|
|
CA2111548 rs770593465 |
45 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs61733652 RCV000956037 CA2111549 |
47 | Q>H | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA350596955 rs1271630240 |
48 | Q>H | No |
ClinGen TOPMed |
|
|
rs1419835890 CA350596935 |
48 | Q>K | No |
ClinGen gnomAD |
|
|
CA350596949 rs1172461360 |
48 | Q>R | No |
ClinGen gnomAD |
|
|
rs1374246131 CA350596964 |
49 | V>M | No |
ClinGen gnomAD |
|
|
CA350596992 rs1416661737 |
50 | K>R | No |
ClinGen gnomAD |
|
|
rs1335578195 CA350597050 |
52 | I>N | No |
ClinGen gnomAD |
|
|
CA350597104 rs1349199047 |
54 | K>R | No |
ClinGen TOPMed |
|
|
CA350597147 rs769117546 |
56 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350597188 rs1311799555 |
58 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA65810219 rs955325644 |
59 | Q>E | No |
ClinGen TOPMed |
|
|
rs1292825162 CA350597263 |
61 | E>K | No |
ClinGen gnomAD |
|
|
rs979339807 CA65810224 |
62 | T>S | No |
ClinGen Ensembl |
|
|
CA65810233 rs956396156 |
67 | L>F | No |
ClinGen Ensembl |
|
|
rs1278285598 CA350597556 |
71 | L>F | No |
ClinGen gnomAD |
|
|
rs1347139633 CA350597632 |
73 | G>R | No |
ClinGen gnomAD |
|
|
CA350597672 rs1437060647 |
74 | V>A | No |
ClinGen gnomAD |
|
|
CA350597669 rs763400004 |
74 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763400004 CA2111553 |
74 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs912127172 CA65810236 |
76 | P>S | No |
ClinGen TOPMed |
|
|
CA350597758 rs1239686614 |
77 | Q>H | No |
ClinGen gnomAD |
|
|
rs1328234813 CA350597733 |
77 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA350597972 rs1392740624 |
84 | P>L | No |
ClinGen gnomAD |
|
|
rs199614245 CA2111556 |
84 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA65810238 rs372893141 |
85 | S>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1364133664 CA350598034 |
85 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs144997742 CA2111558 |
86 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA65810248 rs1018392361 |
88 | C>Y | No |
ClinGen TOPMed |
|
|
rs760969926 CA2111559 |
89 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA2111560 rs760969926 |
89 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1401389466 CA350598227 |
90 | S>P | No |
ClinGen gnomAD |
|
|
rs1401389466 CA350598221 |
90 | S>T | No |
ClinGen gnomAD |
|
|
rs754005610 CA2111561 |
91 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA65810255 rs943392250 |
93 | T>A | No |
ClinGen Ensembl |
|
|
rs1301460060 CA350598292 |
93 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA65810259 rs371006988 |
94 | A>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA350598338 rs1275419989 |
96 | I>T | No |
ClinGen gnomAD |
|
|
rs758377105 CA2111562 |
96 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA65810262 rs974687265 |
100 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs973964811 CA65810264 |
105 | L>P | No |
ClinGen TOPMed |
|
|
rs1338657844 CA350598613 |
106 | H>P | No |
ClinGen gnomAD |
|
|
rs919731277 CA350598617 |
106 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1338657844 CA350598614 |
106 | H>R | No |
ClinGen gnomAD |
|
|
CA2111564 rs200209261 |
107 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200209261 CA2111565 |
107 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs368505769 CA65810271 |
107 | S>P | No |
ClinGen Ensembl |
|
|
rs200209261 CA2111563 |
107 | S>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2111568 rs115949954 |
109 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs745453069 CA2111567 |
109 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs779498722 CA2111569 |
113 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs114179677 CA350598706 |
113 | N>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs114179677 CA2111570 |
113 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2111571 rs769140870 |
114 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199689447 CA2111572 |
115 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA350598741 rs1474713622 |
115 | T>P | No |
ClinGen gnomAD |
|
|
rs748695101 CA2111573 |
117 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs200689128 CA65810282 |
118 | Y>S | No |
ClinGen gnomAD |
|
|
rs114586336 CA2111574 |
119 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2111575 rs773652562 |
119 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148148927 CA2111576 |
120 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2111577 rs766751761 |
120 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs575186082 CA65810285 |
121 | S>F | No |
ClinGen 1000Genomes gnomAD |
|
|
CA350598841 rs1233975474 |
121 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs374640625 CA2111579 |
127 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1489254953 CA350600379 |
130 | Q>* | No |
ClinGen gnomAD |
|
|
rs980791875 CA65810294 |
130 | Q>H | No |
ClinGen TOPMed |
|
|
CA350600412 rs1196503169 |
132 | E>V | No |
ClinGen gnomAD |
|
|
rs757231512 CA2111583 |
134 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs936871859 CA65810298 |
135 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1458608593 CA350600470 |
136 | L>F | No |
ClinGen gnomAD |
|
|
rs750261168 CA2111585 |
137 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1382913135 CA350600477 |
137 | R>H | No |
ClinGen gnomAD |
|
|
RCV000886411 rs140587312 CA2111586 |
138 | S>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1250009182 CA350600505 |
140 | P>A | No |
ClinGen gnomAD |
|
|
rs754419001 CA2111589 |
140 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754419001 CA65810307 |
140 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs999316405 CA65810311 |
143 | K>* | No |
ClinGen Ensembl |
|
| rs1183035109 | 144 | S>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371708156 CA2111591 |
145 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1323224604 CA350600591 |
147 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1323224604 CA350600589 |
147 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA350600603 rs1337263050 |
148 | L>V | No |
ClinGen TOPMed |
|
|
rs1166009057 CA350600623 |
150 | Q>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 150 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs956255772 CA65810315 |
150 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA350600656 rs1287439734 |
152 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA2111593 rs773420985 |
152 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1575172559 CA350600686 |
154 | P>L | No |
ClinGen Ensembl |
|
|
rs747446875 CA2111594 |
157 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1462659207 CA350600735 |
158 | T>A | No |
ClinGen TOPMed |
|
| TCGA novel | 158 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350600785 rs1424711461 |
160 | N>K | No |
ClinGen gnomAD |
|
|
rs1391892304 CA350600775 |
160 | N>T | No |
ClinGen TOPMed |
|
|
rs1377102990 CA350600788 |
161 | K>Q | No |
ClinGen Ensembl |
|
|
CA2111595 rs200626776 |
163 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA350600845 rs200626776 |
163 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 166 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350600889 rs1378667817 |
166 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1009456116 CA65810338 |
167 | V>A | No |
ClinGen Ensembl |
|
|
rs765349709 CA2111599 |
170 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA2111598 rs777056619 |
170 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA2111597 rs777056619 |
170 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1434037388 CA350601002 |
171 | A>V | No |
ClinGen gnomAD |
|
|
CA2111600 rs775660435 |
172 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs761613445 CA2111601 |
173 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA2111603 rs750173514 |
174 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2111604 rs750173514 |
174 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA65810352 rs964899294 |
179 | T>A | No |
ClinGen gnomAD |
|
|
rs753431460 CA2111606 |
179 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA350601172 rs1241850691 |
181 | P>R | No |
ClinGen TOPMed |
|
|
CA2111608 rs551001654 |
182 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2111609 rs561790985 |
183 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2111610 rs758811791 |
187 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs182497441 CA2111612 |
188 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1360803242 CA350601348 |
189 | G>E | No |
ClinGen gnomAD |
|
|
rs746036648 CA2111616 |
190 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA2111615 rs531115885 |
190 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2111617 rs770169174 |
193 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs140421293 CA2111620 |
195 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2111619 rs763141232 |
195 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs773137052 CA2111621 |
196 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs146795145 CA65810386 |
198 | A>S | No |
ClinGen ESP TOPMed |
|
|
CA65810390 rs907935469 |
199 | S>C | No |
ClinGen Ensembl |
|
|
rs138210504 CA2111624 |
199 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA350601556 rs753667698 |
200 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753667698 CA2111625 |
200 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2111626 rs770920193 |
205 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350601714 rs1427270218 |
207 | S>F | No |
ClinGen gnomAD |
|
|
CA350601705 rs1192977048 |
207 | S>P | No |
ClinGen gnomAD |
|
|
rs757990121 CA2111629 |
208 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2111628 rs752131849 |
208 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA350601764 rs781654574 |
210 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA2111633 rs781654574 |
210 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1433758271 CA350601789 |
212 | S>F | No |
ClinGen gnomAD |
|
|
rs149575697 CA2111636 |
213 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs149575697 CA350601797 |
213 | Y>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1382175099 CA350601817 |
214 | K>T | No |
ClinGen gnomAD |
|
|
CA350601833 rs1276813310 |
215 | P>L | No |
ClinGen gnomAD |
|
|
rs774318306 CA2111639 |
216 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs926580909 CA65810422 |
216 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA350601930 rs1272848578 |
221 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA350601932 rs1272848578 |
221 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA350601922 rs1575172825 |
221 | S>T | No |
ClinGen Ensembl |
|
|
rs1272848578 CA350601928 |
221 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
COSM1016484 CA350601938 rs1223967313 |
222 | F>L | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs764788445 CA2111644 |
223 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141628074 CA2111642 |
223 | M>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141628074 CA350601963 |
223 | M>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141628074 CA2111643 |
223 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2111645 CA350601970 rs775136669 |
224 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs762523143 CA2111646 |
227 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350602027 rs762523143 |
227 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2111647 rs149683573 |
228 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2111649 rs546769710 |
229 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2111650 rs768186581 |
230 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs749024490 CA65810443 |
231 | P>H | No |
ClinGen Ensembl |
|
|
CA65810439 rs1052209635 |
231 | P>T | No |
ClinGen Ensembl |
|
|
CA65810446 rs945645248 |
232 | L>* | No |
ClinGen TOPMed |
|
|
rs750803954 CA2111651 |
234 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350602103 rs1295925362 |
234 | Q>H | No |
ClinGen TOPMed |
|
|
CA350602091 rs750803954 |
234 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756434947 CA2111653 |
235 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350602104 rs1575172904 |
235 | T>P | No |
ClinGen Ensembl |
|
|
rs1401059964 CA350602142 |
237 | Q>E | No |
ClinGen gnomAD |
|
|
CA2111654 rs780298007 |
241 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs375447896 CA2111655 COSM1405513 |
243 | S>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA350602275 rs1283870977 |
245 | P>L | No |
ClinGen gnomAD |
|
|
CA350602257 rs1214515670 |
245 | P>S | No |
ClinGen gnomAD |
|
|
CA350602295 rs1489231499 |
246 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1559366844 CA350602314 |
247 | I>V | No |
ClinGen Ensembl |
|
|
CA350602325 rs748280780 |
248 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2111658 rs748280780 |
248 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs535522951 CA2111659 |
249 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1471663011 CA350602365 |
251 | S>P | No |
ClinGen gnomAD |
|
|
rs1183278503 CA350602390 |
252 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs776613644 CA2111660 CA350602441 |
255 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs1361825125 CA350602453 |
256 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA350602456 rs1361825125 |
256 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs745806033 CA2111661 |
256 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1361825125 CA350602455 |
256 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs745806033 CA350602450 |
256 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA2111665 rs556937977 |
257 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs556937977 CA2111664 |
257 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs146513997 CA2111663 |
257 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2111666 rs773976356 |
258 | T>I | No |
ClinGen ExAC |
|
| TCGA novel | 259 | G>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2111667 rs761465349 |
260 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350602537 rs1239562304 |
262 | A>S | No |
ClinGen TOPMed |
|
|
CA2111668 rs377266125 |
263 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA350602543 rs1575173037 |
263 | P>S | No |
ClinGen Ensembl |
|
|
rs1311568927 CA350602556 |
264 | Q>* | No |
ClinGen gnomAD |
|
|
CA350602578 rs1217282485 |
265 | P>L | No |
ClinGen gnomAD |
|
|
CA2111670 rs756603180 |
265 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 267 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2111671 rs766727153 COSM1194710 |
270 | V>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA2111674 rs779168366 |
271 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1392973571 CA350602688 |
272 | K>E | No |
ClinGen gnomAD |
|
|
rs763700452 CA65810523 |
274 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA350602733 rs1288736652 |
274 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs758402347 CA2111676 |
275 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350602785 rs1302616673 |
277 | V>F | No |
ClinGen TOPMed |
|
|
rs1381649441 CA350602808 |
278 | P>L | No |
ClinGen gnomAD |
|
|
CA350602822 rs1439731505 |
279 | A>V | No |
ClinGen gnomAD |
|
|
CA2111677 rs777840075 |
281 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 282 | S>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1400669051 CA350602876 |
283 | A>T | No |
ClinGen gnomAD |
|
|
rs1330154422 CA350602881 |
283 | A>V | No |
ClinGen gnomAD |
|
|
rs1444867548 CA350602911 |
286 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs375574702 CA2111680 |
286 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs776330451 CA2111681 |
287 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1418604584 CA350602927 |
287 | L>W | No |
ClinGen TOPMed |
|
|
CA2111682 rs768341970 |
288 | S>F | No |
ClinGen ExAC gnomAD |
|
|
COSM1405514 rs115902060 CA2111684 |
290 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA350603039 rs1457117823 |
294 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA2111686 rs561923612 |
294 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2111687 rs761216316 |
295 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA65810577 rs992240454 |
297 | T>I | No |
ClinGen gnomAD |
|
|
CA350603071 rs992240454 |
297 | T>S | No |
ClinGen gnomAD |
|
|
rs141742368 CA2111690 |
298 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs958139507 CA65810584 |
298 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA350603099 rs1423391022 |
299 | S>T | No |
ClinGen gnomAD |
|
|
CA350603132 rs1387524308 |
302 | S>C | No |
ClinGen TOPMed |
|
|
rs866973405 CA65810605 |
303 | S>F | No |
ClinGen Ensembl |
|
|
rs1456878139 CA350603151 |
304 | W>* | No |
ClinGen TOPMed |
|
|
CA2111692 rs765586089 |
304 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA350603164 rs1559367181 |
305 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA2111694 rs758638503 |
307 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2111693 rs752854328 |
307 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1438551997 CA350603198 |
308 | N>H | No |
ClinGen gnomAD |
|
|
CA350603205 rs1167175013 |
308 | N>S | No |
ClinGen TOPMed |
|
|
rs200999766 CA2111695 |
311 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA350603253 rs1193734982 |
312 | M>L | No |
ClinGen TOPMed |
|
|
rs947855487 CA65810614 |
316 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2111697 rs756054241 |
318 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA350603325 rs1479914431 |
318 | S>P | No |
ClinGen gnomAD |
|
|
COSM1016485 rs1259659698 CA350603337 |
319 | C>R | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1259348154 CA350603350 |
320 | A>S | No |
ClinGen TOPMed |
|
| TCGA novel | 320 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350603395 rs1187740349 |
323 | D>E | No |
ClinGen TOPMed |
|
|
CA2111698 rs779913721 |
324 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA65810619 rs749103253 |
325 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2111699 rs749103253 |
325 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2111700 rs768514757 |
327 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 327 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350603433 rs1196776953 |
327 | S>T | No |
ClinGen gnomAD |
|
|
rs116084413 CA2111702 |
331 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2111701 rs778873088 |
331 | T>P | No |
ClinGen ExAC TOPMed |
|
|
CA2111704 rs772828945 |
333 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA2111706 rs760162860 |
334 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA65810645 rs761582860 |
334 | I>V | No |
ClinGen TOPMed |
|
|
CA2111709 rs776939840 |
335 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA2111708 rs776939840 |
335 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2111707 rs765087705 |
335 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA65810654 rs570407190 |
337 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA65810657 rs758680937 |
339 | A>V | No |
ClinGen Ensembl |
|
|
rs143880351 CA350603594 CA2111711 |
340 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143880351 CA2111712 |
340 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350603602 rs1303739811 |
341 | R>G | No |
ClinGen gnomAD |
|
|
rs138326187 CA2111716 |
345 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138326187 CA350603660 |
345 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs138326187 CA350603663 |
345 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA350603672 rs1243648335 |
346 | R>G | No |
ClinGen gnomAD |
|
|
rs145984612 CA350603684 |
347 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145984612 CA2111717 |
347 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1454602486 CA350603695 |
348 | F>L | No |
ClinGen TOPMed |
|
|
rs1254663007 CA350603724 |
350 | K>E | No |
ClinGen TOPMed |
|
|
rs1222563319 CA350603733 |
350 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA350603747 rs1286011627 |
351 | M>I | No |
ClinGen gnomAD |
|
| TCGA novel | 351 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2111719 rs184304313 |
352 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA350603756 rs184304313 |
352 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA350603800 rs1197081000 |
355 | G>D | No |
ClinGen TOPMed |
|
|
rs771840867 CA2111721 |
359 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2111723 rs199794146 |
360 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1370395008 CA350603878 |
361 | S>C | No |
ClinGen gnomAD |
|
|
rs746683771 CA2111724 |
362 | S>G | No |
ClinGen ExAC gnomAD |
|
|
VAR_031466 rs3731875 CA2111726 |
364 | L>P | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs562479789 CA2111725 |
364 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA350603912 rs770323012 CA2111728 |
365 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350603909 rs1575173462 |
365 | N>T | No |
ClinGen Ensembl |
|
|
CA350603913 rs1348971994 |
366 | P>S | No |
ClinGen TOPMed |
|
|
rs1306276561 CA350603944 |
370 | W>R | No |
ClinGen gnomAD |
|
|
CA2111730 rs763365001 |
371 | N>Y | No |
ClinGen ExAC |
|
| TCGA novel | 372 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774369561 CA2111732 |
372 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs200974697 CA2111731 |
372 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs767457033 CA2111734 |
373 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750558226 CA2111735 |
374 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA350603975 rs1219475958 |
375 | R>G | No |
ClinGen gnomAD |
|
|
rs1004103442 CA65810733 |
376 | S>G | No |
ClinGen TOPMed |
|
|
CA65810737 rs996284500 |
376 | S>N | No |
ClinGen Ensembl |
|
|
CA2111738 rs371981019 |
378 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2111737 rs114126511 |
378 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1575173521 CA350604000 |
379 | W>G | No |
ClinGen Ensembl |
|
|
CA2111740 rs199638822 |
382 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs189256953 CA2111741 |
383 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA350604027 rs189256953 |
383 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2111742 rs746589002 |
383 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2111744 rs780533261 |
384 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA2111745 rs745428569 |
386 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA2111746 rs149134733 |
386 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1002435059 CA65810768 |
389 | P>R | No |
ClinGen TOPMed |
|
|
rs1416681935 CA350604067 |
389 | P>S | No |
ClinGen gnomAD |
|
|
rs776042047 CA2111747 |
390 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749799897 CA2111748 |
391 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs992271765 CA65810769 |
391 | E>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 392 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768845350 CA2111749 |
394 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs147902827 CA2111750 |
395 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA65810777 rs1010999200 |
398 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1258150090 CA350604139 |
401 | P>L | No |
ClinGen gnomAD |
|
|
rs1462011275 CA350604147 |
402 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2111752 rs767829911 |
404 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2111753 rs773414414 |
405 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350604162 rs1459189134 |
405 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA350604160 rs773414414 |
405 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1432536114 CA350604195 |
410 | D>G | No |
ClinGen gnomAD |
|
|
CA2111754 rs760908025 |
410 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs969228380 CA350604199 |
411 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs969228380 CA65810787 |
411 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
CA2111755 rs201652642 |
411 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA65810792 rs925232787 |
412 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs752627995 CA2111756 |
415 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA65810795 rs987511798 |
416 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs987511798 CA350604234 |
416 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA350604235 rs987511798 |
416 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1575173658 CA350604236 |
417 | K>Q | No |
ClinGen Ensembl |
|
|
rs200872563 CA2111757 |
418 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2111758 VAR_013140 rs2114664 |
418 | R>H | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs756835343 COSM1306435 CA2111760 |
420 | S>N | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1575173706 CA350604280 |
422 | H>P | No |
ClinGen Ensembl |
|
|
rs755554272 CA2111763 |
423 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 423 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2111769 rs772181478 |
427 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375288672 CA65810817 |
428 | A>S | No |
ClinGen Ensembl |
|
|
rs1363062679 CA350604384 |
429 | S>G | No |
ClinGen gnomAD |
|
|
CA350604401 rs1189441199 |
430 | G>R | No |
ClinGen gnomAD |
|
|
rs760994695 CA2111771 |
432 | N>D | No |
ClinGen ExAC |
|
|
CA2111772 rs771090719 |
432 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 433 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2111774 rs776878776 |
434 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA2111773 rs776878776 |
434 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs137936408 CA2111777 |
435 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2111778 rs767219966 |
435 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350604487 rs767219966 |
435 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs137936408 CA2111776 |
435 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2111781 rs779508994 |
438 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1317616334 CA350604562 |
441 | I>L | No |
ClinGen TOPMed |
|
|
CA2111783 rs755428718 |
441 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1215413611 CA350604694 |
445 | A>P | No |
ClinGen gnomAD |
|
|
CA65810835 rs747494985 |
445 | A>V | No |
ClinGen Ensembl |
|
|
rs1447213897 CA350604761 |
447 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 451 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350604906 rs1326751311 |
454 | P>H | No |
ClinGen TOPMed |
|
|
CA350604892 COSM1692019 rs1320049450 |
454 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA2111784 rs779542849 |
455 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA65810839 rs539847238 |
457 | P>H | No |
ClinGen 1000Genomes TOPMed |
|
|
CA350605018 rs1387512877 |
458 | Q>L | No |
ClinGen TOPMed |
|
|
rs775659961 CA65810841 |
459 | T>I | No |
ClinGen Ensembl |
|
|
CA350605054 rs1164989258 |
460 | L>F | No |
ClinGen TOPMed |
|
|
CA2111785 rs748610380 |
460 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs772427210 CA2111786 |
462 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2111787 rs778308729 |
463 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148659460 CA65810849 |
464 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs367676777 CA350605171 |
464 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2111788 rs148659460 |
464 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs776827242 CA2111790 |
465 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA2111791 rs759716676 |
466 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs759716676 CA350605181 |
466 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1243019387 CA350605194 |
467 | T>I | No |
ClinGen TOPMed |
|
|
CA2111792 rs768471510 |
467 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs774276539 CA2111793 |
468 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761668602 COSM270423 CA2111794 |
468 | R>H | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
|
rs774276539 CA350605196 |
468 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2111795 rs376705056 |
470 | S>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA350605255 rs1347356635 |
471 | S>F | No |
ClinGen gnomAD |
|
|
CA65810876 rs887947472 |
472 | I>V | No |
ClinGen Ensembl |
|
|
CA2111799 rs193206768 |
473 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1353019934 CA350605523 |
480 | E>G | No |
ClinGen gnomAD |
|
|
CA350605584 rs766079122 |
482 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA2111800 rs766079122 |
482 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA65810885 rs1015161798 |
485 | A>T | No |
ClinGen Ensembl |
|
|
rs1283765106 CA350605711 |
486 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 492 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350605867 rs1216228701 |
492 | D>N | No |
ClinGen gnomAD |
|
|
rs754446247 CA2111802 |
492 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA65810893 rs201569250 |
493 | R>G | No |
ClinGen TOPMed |
|
| TCGA novel | 493 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350605959 rs758358692 |
496 | S>N | No |
ClinGen gnomAD |
|
|
rs758358692 CA65810896 |
496 | S>T | No |
ClinGen gnomAD |
|
|
rs759129935 CA2111822 |
499 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA350606171 rs1575174711 |
500 | D>A | No |
ClinGen Ensembl |
|
|
rs1575174716 CA350606190 |
501 | L>P | No |
ClinGen Ensembl |
|
|
CA350606215 rs1164847980 |
503 | P>T | No |
ClinGen gnomAD |
|
|
rs936682504 CA65811306 |
504 | D>N | No |
ClinGen Ensembl |
|
|
rs758954798 CA2111825 |
505 | Q>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 507 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2111826 rs764759061 |
508 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs757631555 CA2111828 |
509 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA2111829 rs371385094 |
510 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2111830 rs746054074 |
511 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs115376345 CA2111831 |
511 | T>I | No |
ClinGen 1000Genomes TOPMed |
|
|
rs796689103 CA65811322 |
514 | E>K | No |
ClinGen Ensembl |
|
|
CA65811331 rs1003682474 |
515 | L>I | No |
ClinGen TOPMed |
|
|
rs1442047257 CA350607863 |
517 | D>G | No |
ClinGen TOPMed |
|
|
rs1041093953 CA65811350 |
518 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA65811346 rs1041093953 |
518 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
VAR_031467 rs17851914 CA65811344 |
518 | G>S | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs901035208 CA65811356 |
521 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2111834 rs780159730 |
522 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA350608012 rs1423284316 |
523 | C>F | No |
ClinGen gnomAD |
|
|
rs996609634 CA65811367 |
523 | C>G | No |
ClinGen Ensembl |
|
|
VAR_031468 CA65811375 rs17851915 |
524 | S>G | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs749385951 CA2111835 |
525 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2111836 rs114531217 |
525 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA65811382 rs749385951 |
525 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350608150 rs773065769 |
528 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1404816955 CA350608153 |
529 | E>K | No |
ClinGen gnomAD |
|
|
CA2111839 rs770660351 |
531 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA2111838 rs746959902 |
531 | E>K | No |
ClinGen ExAC |
|
|
rs1324567590 CA350608251 |
532 | E>D | No |
ClinGen Ensembl |
|
|
rs1005632773 CA65811384 |
532 | E>V | No |
ClinGen TOPMed |
|
|
rs754063118 CA2111853 |
533 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs776317626 CA2111840 |
533 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1005501592 CA65811524 |
534 | D>E | No |
ClinGen Ensembl |
|
| TCGA novel | 534 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1319949085 CA350608484 |
535 | S>L | No |
ClinGen gnomAD |
|
|
CA350608495 rs1253973876 |
536 | E>Q | No |
ClinGen TOPMed |
|
|
rs754990924 CA2111854 |
539 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs778983845 CA2111855 |
541 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA2111856 rs746905405 |
542 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1433018500 CA350608675 |
543 | V>I | No |
ClinGen Ensembl |
|
|
rs1575175138 CA350608744 |
544 | S>F | No |
ClinGen Ensembl |
|
|
rs781022354 CA2111858 |
545 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1021937954 CA65811558 |
546 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA2111860 rs367970100 |
546 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2111862 rs762710778 |
547 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA2111864 rs372153012 |
548 | S>L | No |
ClinGen ESP ExAC |
|
|
CA2111867 CA2111868 rs762378512 |
551 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2111866 rs762378512 |
551 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202117201 CA2111869 |
552 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1379604539 CA350608997 |
553 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA2111889 rs759729610 |
555 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA350610990 rs1470546403 |
557 | M>T | No |
ClinGen gnomAD |
|
|
CA2111891 rs752772707 |
565 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1410111965 CA350611104 |
566 | N>S | No |
ClinGen gnomAD |
|
|
rs758345708 CA2111892 |
567 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs1330097384 COSM371582 CA350611126 |
568 | E>K | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs35012974 CA2111894 |
570 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs756109818 CA2111895 |
572 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA350611187 rs779964102 |
572 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779964102 CA2111896 |
572 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1197837526 CA350611203 |
573 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1197837526 CA350611198 |
573 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs375899110 CA65814236 |
578 | S>G | No |
ClinGen ESP |
|
|
rs936179916 CA65814237 |
578 | S>R | No |
ClinGen Ensembl |
|
|
CA2111897 rs749145243 |
579 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1251353964 CA350611340 |
580 | F>S | No |
ClinGen gnomAD |
|
|
rs1473995479 CA350611378 |
582 | N>D | No |
ClinGen TOPMed |
|
|
CA2111900 rs116763778 |
582 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs115360760 CA2111901 |
583 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2111902 rs114873637 |
584 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA65814253 rs149187082 |
585 | P>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs747441048 CA2111903 |
586 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs747441048 CA2111904 |
586 | T>P | No |
ClinGen ExAC gnomAD |
|
| rs1170236557 | 586 | T>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350611464 rs1376723586 |
587 | I>L | No |
ClinGen TOPMed |
|
|
CA350611476 rs1292381260 |
587 | I>T | No |
ClinGen TOPMed |
|
|
rs574453999 CA2111905 |
588 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs574453999 CA2111906 |
588 | Y>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2111907 rs778690552 |
590 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA65814258 rs778690552 |
590 | G>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 590 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1041332078 CA65814262 |
591 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs775635041 CA2111908 |
592 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1284786588 CA350611576 |
592 | R>W | No |
ClinGen gnomAD |
|
|
CA350611644 rs1575178629 |
595 | R>K | No |
ClinGen Ensembl |
|
|
CA350611958 rs1257938733 |
596 | V>A | No |
ClinGen TOPMed |
|
|
CA350612104 rs1335876381 |
601 | W>* | No |
ClinGen gnomAD |
|
|
CA350612117 rs1380427059 |
602 | E>K | No |
ClinGen gnomAD |
|
|
CA350612147 rs1317164832 |
603 | Q>* | No |
ClinGen gnomAD |
|
|
rs1317164832 CA350612146 |
603 | Q>E | No |
ClinGen gnomAD |
|
|
rs753777405 CA2111931 |
606 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA350612322 rs1282393621 |
607 | L>F | No |
ClinGen gnomAD |
|
|
rs1347888244 CA350612327 |
607 | L>P | No |
ClinGen TOPMed |
|
|
CA350612341 rs1216897487 |
608 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs752584033 CA350612373 |
608 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2111934 rs752584033 |
608 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350612407 rs1341460707 |
609 | W>* | No |
ClinGen TOPMed |
|
|
CA350612440 rs1315199215 |
610 | K>T | No |
ClinGen TOPMed |
|
|
rs1021518865 CA65814477 |
611 | M>I | No |
ClinGen TOPMed |
|
|
rs979316323 CA65814479 |
613 | T>P | No |
ClinGen gnomAD |
|
|
rs757969579 CA2111935 |
616 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2111936 rs777544947 |
617 | N>H | No |
ClinGen ExAC |
|
|
CA2111938 rs564044928 |
617 | N>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2111937 rs564044928 |
617 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA350612679 rs1421626605 |
618 | I>T | No |
ClinGen TOPMed |
|
|
CA2111941 rs770326934 |
620 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA350612812 rs1403639183 |
622 | T>A | No |
ClinGen gnomAD |
|
|
rs571147449 CA2111942 |
623 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1382818671 CA350612861 |
623 | I>V | No |
ClinGen TOPMed |
|
|
rs1337294673 CA350612924 |
624 | G>R | No |
ClinGen gnomAD |
|
|
rs768757480 CA2111946 |
625 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs768757480 CA2111945 |
625 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2111944 rs370491335 |
625 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA350613048 rs1031992229 |
626 | S>A | No |
ClinGen gnomAD |
|
|
rs1031992229 CA65814527 |
626 | S>T | No |
ClinGen gnomAD |
|
|
rs772469422 CA2111966 |
633 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1559371508 CA350613550 |
635 | D>E | No |
ClinGen Ensembl |
|
|
rs1490746404 CA350613539 |
635 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA65814729 rs938071139 |
636 | D>N | No |
ClinGen TOPMed |
|
|
rs747147696 CA2111968 |
639 | G>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 639 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1559371528 CA350613736 |
640 | C>F | No |
ClinGen Ensembl |
|
|
CA350613728 rs1575179464 |
640 | C>G | No |
ClinGen Ensembl |
|
|
rs770916214 CA2111969 |
641 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1436124112 CA350613800 |
642 | G>S | No |
ClinGen TOPMed |
|
|
CA65814730 rs1055198735 |
645 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2111970 rs775443630 |
646 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs762825310 CA2111971 |
646 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA350614005 rs762825310 |
646 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1363892714 CA350614067 |
648 | P>A | No |
ClinGen gnomAD |
|
|
CA350614193 COSM1306436 rs1407008594 |
651 | R>* | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1324544594 CA350614214 |
651 | R>Q | No |
ClinGen gnomAD |
|
|
CA2111972 rs377329687 |
652 | S>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA65814749 rs905007441 |
654 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1431639265 COSM1016490 CA350614268 |
654 | R>Q | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA2111988 rs770998270 |
659 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA350616033 rs1360962860 |
661 | H>Y | No |
ClinGen gnomAD |
|
|
rs1231841972 CA350616065 |
663 | P>S | No |
ClinGen TOPMed |
|
|
rs777738648 CA65815072 |
666 | F>L | No |
ClinGen gnomAD |
|
|
COSM1016491 CA350616183 rs1206623206 |
667 | Q>H | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA350616189 rs1229744536 |
668 | I>L | No |
ClinGen TOPMed |
|
|
rs1372917562 CA350616200 |
668 | I>T | No |
ClinGen gnomAD |
|
|
rs761696707 CA65815077 |
673 | R>Q | No |
ClinGen gnomAD |
|
|
rs776610117 CA2111989 |
673 | R>W | No |
ClinGen ExAC |
|
|
rs369654368 CA65815091 |
676 | R>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA2111991 rs768526533 |
676 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774120755 CA2111992 |
679 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA2111994 rs767304485 |
680 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350616448 rs767304485 |
680 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771106138 CA65815110 |
680 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA2111995 rs373380441 |
684 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2111996 rs760275296 |
684 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1469666980 CA350616548 |
686 | G>S | No |
ClinGen gnomAD |
|
|
rs892295971 CA65815120 |
687 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA2111997 rs765879365 |
688 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1388220604 CA350616625 |
691 | S>N | No |
ClinGen gnomAD |
|
|
CA350616618 rs1559372114 |
691 | S>R | No |
ClinGen Ensembl |
|
|
CA2111999 rs755493315 |
694 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA65815124 rs774619117 |
694 | P>S | No |
ClinGen gnomAD |
|
|
CA2112002 rs753259294 |
696 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753259294 CA2112001 |
696 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2112005 rs757465839 |
700 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA2112006 rs781313862 |
702 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs768634531 CA2112008 |
703 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350616766 rs1297041055 |
703 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 704 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1417479119 CA350616813 |
706 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs778757074 CA2112009 |
707 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2112010 rs115789963 |
707 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2112011 rs115789963 |
707 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA65815150 rs952476922 |
709 | A>S | No |
ClinGen Ensembl |
|
|
CA2112012 rs115693403 |
709 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1245043080 CA350616922 |
711 | E>V | No |
ClinGen gnomAD |
|
|
rs1016465539 CA65815158 |
712 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA2112014 rs770546296 |
713 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA2112015 rs776197564 |
714 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144523580 CA2112017 |
715 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2112018 rs753204124 COSM573517 |
715 | R>H | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs763589246 CA2112019 |
716 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs763589246 CA350617007 |
716 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 718 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350617036 rs1575180385 |
718 | W>G | No |
ClinGen Ensembl |
|
|
rs1221417831 CA350617070 |
720 | V>L | No |
ClinGen gnomAD |
|
|
rs1381491060 CA350617197 |
724 | A>G | No |
ClinGen gnomAD |
|
|
CA350617191 rs1368029857 |
724 | A>S | No |
ClinGen gnomAD |
|
|
rs1309223486 CA350617214 |
725 | S>L | No |
ClinGen gnomAD |
|
|
CA65815232 rs148484296 |
727 | R>* | No |
ClinGen ESP gnomAD |
|
|
rs148484296 CA350617235 |
727 | R>G | No |
ClinGen ESP gnomAD |
|
|
CA2112041 rs750563497 |
727 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350617241 rs750563497 |
727 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750563497 CA350617238 |
727 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 728 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350617270 rs1358915392 |
730 | G>S | No |
ClinGen gnomAD |
|
|
rs976047501 CA65815233 |
732 | Q>H | No |
ClinGen TOPMed |
|
|
CA350617338 rs1220533279 |
736 | K>T | No |
ClinGen gnomAD |
|
|
rs201962663 CA65815234 |
738 | S>G | No |
ClinGen Ensembl |
|
|
CA350617383 rs1416111224 |
739 | Q>R | No |
ClinGen TOPMed |
|
|
rs1488997415 CA350617390 |
740 | L>F | No |
ClinGen gnomAD |
|
|
CA2112042 rs756366556 |
741 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780083438 COSM3364579 CA2112043 |
742 | K>R | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
COSM1240549 CA2112044 rs753976879 |
743 | R>* | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs758326255 CA2112045 |
743 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1166447556 CA350617440 |
745 | P>T | No |
ClinGen gnomAD |
|
|
CA350617451 rs1575180565 |
746 | L>V | No |
ClinGen Ensembl |
|
|
CA2112048 rs375748977 |
748 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1237554660 CA350617544 |
750 | R>S | No |
ClinGen gnomAD |
|
|
CA350617494 rs1367200347 |
750 | R>T | No |
ClinGen gnomAD |
|
|
CA2112072 rs533198956 |
753 | H>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs551783740 CA2112074 |
753 | H>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA65815295 rs751252483 |
753 | H>Q | No |
ClinGen Ensembl |
|
|
CA2112073 rs533198956 |
753 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1575180853 CA350617642 |
754 | K>N | No |
ClinGen Ensembl |
|
|
rs1175478326 CA350617669 |
756 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1175478326 CA350617666 |
756 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1575180868 CA350617706 |
758 | I>N | No |
ClinGen Ensembl |
|
|
rs776781286 CA2112078 |
760 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350617759 rs1359807856 |
761 | S>G | No |
ClinGen gnomAD |
|
|
CA350617805 rs1448846065 |
763 | F>C | No |
ClinGen TOPMed |
|
|
CA350617858 rs566789467 |
766 | R>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2112080 rs566789467 |
766 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA350617851 rs1306377023 |
766 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA2112081 rs752874219 |
767 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1575180909 CA350617864 |
767 | I>V | No |
ClinGen Ensembl |
|
|
rs1221432561 CA350617925 |
770 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA65815303 rs909414321 |
773 | S>A | No |
ClinGen TOPMed |
|
|
CA2112084 rs754612472 |
775 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA350618105 rs1253475244 |
775 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA350618111 rs1270359828 |
776 | P>T | No |
ClinGen TOPMed |
|
|
rs201938806 CA2112086 |
778 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350618159 rs547226440 COSM1179233 |
778 | R>W | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA2112087 rs753502307 |
781 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2112088 rs754707180 |
783 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA350618355 rs1410676353 |
788 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs778271030 CA2112089 |
788 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs145485253 CA2112090 |
792 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2112091 rs771486583 |
792 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA2112092 rs778190781 |
793 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs1210158485 CA350618621 |
794 | Y>C | No |
ClinGen gnomAD |
|
|
rs754581382 CA2112106 |
794 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752305543 CA2112108 |
795 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1248621963 CA350618663 |
797 | S>T | No |
ClinGen gnomAD |
|
|
rs777292788 CA2112110 |
798 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs757871899 CA2112109 |
798 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs749385909 CA65815385 |
798 | M>V | No |
ClinGen gnomAD |
|
|
CA2112111 rs747479805 |
799 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs139928382 CA350618728 |
801 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139928382 CA2112112 |
801 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2112113 rs781525192 |
802 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA2112114 rs746314006 |
803 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA65815392 rs114705385 |
803 | N>S | No |
ClinGen 1000Genomes |
|
|
CA65815396 rs755005039 |
806 | M>T | No |
ClinGen gnomAD |
|
|
rs770061860 CA2112115 |
807 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA350618936 rs1309976137 |
810 | N>D | No |
ClinGen gnomAD |
|
|
rs775727736 CA2112116 |
810 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1245067763 CA350618963 |
811 | Y>N | No |
ClinGen gnomAD |
|
|
CA2112118 rs114249118 |
813 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1210402606 CA350619086 |
814 | N>S | No |
ClinGen gnomAD |
|
|
CA65815399 rs865899138 |
818 | A>V | No |
ClinGen Ensembl |
|
|
CA65815401 COSM3938919 rs760675042 |
819 | E>K | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs760675042 CA2112120 |
819 | E>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 820 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766490244 CA2112121 |
822 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1553611157 CA2112122 |
823 | N>D | No |
ClinGen Ensembl |
|
|
rs536826278 CA2112124 |
823 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764959876 CA2112126 |
824 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA350619305 rs1471795235 |
825 | D>G | No |
ClinGen gnomAD |
|
|
rs1466534750 CA350619289 |
825 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 826 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778893733 CA2112127 |
827 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350619351 rs1161861769 |
827 | M>V | No |
ClinGen gnomAD |
|
|
CA65815405 rs918255852 |
832 | H>R | No |
ClinGen Ensembl |
|
|
CA350619502 rs1301674889 |
834 | W>L | No |
ClinGen gnomAD |
|
|
CA2112150 rs756701876 |
835 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1274021088 CA350620683 |
838 | A>V | No |
ClinGen gnomAD |
|
|
CA2112152 rs750903171 |
839 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA65815530 rs749665810 |
842 | Y>N | No |
ClinGen Ensembl |
|
|
CA2112154 rs756621203 |
843 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs780445786 CA2112155 |
845 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA2112156 rs749674538 |
847 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749674538 CA65815532 |
847 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs565735104 CA2112158 |
849 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs755396706 CA2112157 |
849 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA350620974 rs1187309659 |
850 | S>I | No |
ClinGen gnomAD |
|
|
rs114062474 CA2112160 |
850 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs773201698 CA2112161 |
851 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA65815539 rs17856640 VAR_031469 |
852 | A>S | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs17856640 CA2112163 |
852 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA65815540 rs915426544 |
853 | I>T | No |
ClinGen TOPMed |
|
|
rs145880520 CA2112164 |
853 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350621092 rs1342074445 |
855 | E>V | No |
ClinGen TOPMed |
|
|
CA350621105 rs1295091726 |
856 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs201643379 CA65815542 |
856 | K>N | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1221276685 CA350621330 |
864 | T>I | No |
ClinGen TOPMed |
|
|
CA2112167 rs201011157 |
865 | I>V | Variant assessed as Somatic; 0.0006931 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs772776315 CA2112188 |
870 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs772776315 CA2112187 |
870 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs373871833 CA2112189 |
871 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373871833 CA2112190 |
871 | Y>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2112191 rs760160258 |
873 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350621775 rs1575182380 |
873 | T>P | No |
ClinGen Ensembl |
|
|
rs530663784 CA2112193 |
878 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA350621915 rs1575182405 |
878 | M>T | No |
ClinGen Ensembl |
|
|
rs370903044 CA2112194 |
879 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777793608 CA2112196 |
880 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA2112197 COSM1669760 rs751822038 |
881 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs757236209 CA2112199 |
881 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs757236209 CA2112198 |
881 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2112200 rs138019885 |
882 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA65815601 rs924100369 |
882 | R>W | No |
ClinGen TOPMed |
|
|
rs1357317128 CA350622024 |
883 | P>A | No |
ClinGen TOPMed |
|
|
CA2112201 rs768633788 |
883 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs778669071 CA2112202 |
884 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350622161 rs1242672711 |
887 | H>R | No |
ClinGen TOPMed |
|
|
rs748006749 CA2112203 |
894 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA350622390 rs1358697453 |
895 | M>V | No |
ClinGen TOPMed |
|
|
rs770311270 CA2112207 |
898 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA2112206 rs143759265 |
898 | E>K | Variant assessed as Somatic; 0.0007391 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs199971353 CA65815618 |
901 | K>T | No |
ClinGen gnomAD |
|
|
CA350622687 rs1392404303 |
907 | V>I | No |
ClinGen TOPMed |
|
| TCGA novel | 909 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2112212 rs763171426 |
911 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA350622743 rs1456932826 |
911 | P>R | No |
ClinGen TOPMed |
|
|
rs148745444 CA2112234 |
914 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1302257992 CA350622941 |
915 | S>C | No |
ClinGen TOPMed |
|
|
rs1252164568 CA350623002 |
919 | L>V | No |
ClinGen gnomAD |
|
|
rs200227224 CA65815845 |
920 | D>G | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs536707921 CA65815848 |
921 | I>F | No |
ClinGen 1000Genomes |
|
|
rs1282786251 CA350623037 |
921 | I>T | No |
ClinGen TOPMed |
|
|
rs554755238 CA2112237 |
926 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1299301015 CA350623087 |
927 | M>V | No |
ClinGen gnomAD |
|
|
CA65815853 rs758463335 |
929 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1208956425 CA350623103 |
929 | R>H | No |
ClinGen gnomAD |
|
|
rs973294140 CA65815857 |
931 | L>F | No |
ClinGen TOPMed |
|
|
rs758405880 CA2112240 |
933 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA2112241 rs777416760 |
935 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA2112244 rs780933072 |
941 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1392197632 CA350623176 |
941 | N>S | No |
ClinGen gnomAD |
|
|
CA2112245 rs745539971 |
943 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1162960705 CA350623190 |
943 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs150883235 CA65815868 |
943 | E>K | No |
ClinGen ESP TOPMed |
|
|
rs775180659 CA2112247 |
944 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA2112246 rs769389900 |
944 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs749737475 CA2112248 |
945 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA65815878 rs974341050 |
947 | S>C | No |
ClinGen Ensembl |
|
|
rs1575183152 CA350623211 |
947 | S>P | No |
ClinGen Ensembl |
|
|
rs1321987304 CA350623222 |
948 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1257019276 CA350623225 |
949 | P>S | No |
ClinGen TOPMed |
|
|
CA65815883 rs116316266 |
950 | S>R | No |
ClinGen 1000Genomes |
|
|
rs201356218 CA2112251 |
952 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2112252 rs199705272 |
953 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA350623256 rs1282126224 |
953 | S>R | No |
ClinGen gnomAD |
|
|
rs1358164274 CA350623262 |
954 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2112254 rs141381911 |
957 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1351449606 CA350624182 |
962 | S>A | No |
ClinGen gnomAD |
|
|
rs776722427 CA350624186 |
962 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2112273 rs776722427 |
962 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2112274 rs759601994 |
963 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1486782423 CA350624225 |
965 | D>N | No |
ClinGen gnomAD |
|
|
CA350624291 rs1251538740 |
967 | C>F | No |
ClinGen gnomAD |
|
|
rs1275715758 CA350624281 |
967 | C>R | No |
ClinGen gnomAD |
|
|
rs1471847385 CA350624295 |
967 | C>W | No |
ClinGen gnomAD |
|
|
CA2112275 rs765252716 COSM1016493 |
968 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs145442569 CA2112276 |
968 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350624306 rs1465066158 |
969 | M>V | No |
ClinGen gnomAD |
|
|
rs1170313576 CA350624333 |
970 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2112278 rs767398939 |
971 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA2112279 rs750301470 COSM1405518 |
972 | E>G | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA65816223 rs866402631 |
973 | H>N | No |
ClinGen Ensembl |
|
|
CA350624366 rs1337080529 |
973 | H>R | No |
ClinGen TOPMed |
|
|
rs1575184447 CA350624417 |
976 | A>V | No |
ClinGen Ensembl |
|
|
rs143487231 CA65816226 |
977 | Q>L | No |
ClinGen ESP TOPMed |
|
|
CA65816225 rs143487231 |
977 | Q>R | No |
ClinGen ESP TOPMed |
|
|
CA2112281 rs779694513 |
978 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs755827957 CA2112280 |
978 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350624573 rs1218865997 |
981 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA2112282 rs753448202 |
981 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs907581686 CA65816229 |
982 | A>T | No |
ClinGen TOPMed |
|
|
CA2112283 rs373649756 |
982 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350624631 rs1254334966 |
983 | Y>C | No |
ClinGen gnomAD |
|
|
CA2112284 rs778323943 |
983 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs748628580 CA2112285 |
984 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA2112286 rs772621226 |
988 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA65816237 rs540614739 |
990 | P>R | No |
ClinGen TOPMed |
|
|
CA2112288 rs747307394 |
991 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA2112287 rs778102825 |
991 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA350624903 rs1179343706 |
992 | Q>* | No |
ClinGen gnomAD |
|
|
CA350624911 rs1393459130 |
992 | Q>R | No |
ClinGen TOPMed |
|
|
rs1287213461 CA350563254 |
994 | F>C | No |
ClinGen TOPMed |
|
|
rs545995505 CA2112320 |
995 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA350563268 rs545995505 |
995 | Y>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs760563453 CA2112319 |
995 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA2112321 rs545995505 |
995 | Y>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2112323 rs557920337 |
997 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA2112322 rs759217883 |
997 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs557920337 CA2112324 |
997 | S>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA350563300 rs1363649272 |
998 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs377589036 CA2112325 |
1000 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1166847545 CA350563364 |
1003 | T>A | No |
ClinGen gnomAD |
|
|
CA350563373 rs1418404738 |
1003 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA2112328 rs116116034 |
1005 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2112330 rs377347204 COSM442323 |
1008 | R>Q | Variant assessed as Somatic; 0.0 impact. oesophagus breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs370812299 CA2112329 |
1008 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA2112331 rs756510278 |
1015 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA2112332 rs114350088 |
1016 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1356044069 CA350563651 |
1018 | S>A | No |
ClinGen gnomAD |
|
|
rs768819479 CA2112334 |
1019 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2112335 rs138929410 |
1019 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1473555537 CA350563689 |
1020 | R>H | No |
ClinGen TOPMed |
|
|
CA65803310 rs1048529374 |
1021 | G>R | No |
ClinGen TOPMed |
|
|
rs1318163267 CA350563729 |
1022 | Q>R | No |
ClinGen gnomAD |
|
|
rs1255001757 CA350563745 |
1023 | F>L | No |
ClinGen gnomAD |
|
|
rs1482074600 CA350563749 |
1024 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1004632019 CA65803314 COSM1016494 |
1025 | R>Q | large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA350563779 rs1189711712 |
1026 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2112337 rs142846980 |
1028 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA65803315 rs866289126 |
1028 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA350563818 rs1352035517 |
1029 | S>C | No |
ClinGen TOPMed |
|
|
CA2112338 rs776631243 |
1030 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs759194101 CA2112339 |
1031 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1229153730 CA350563845 |
1031 | I>T | No |
ClinGen TOPMed |
|
|
rs759194101 CA350563839 |
1031 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1159936693 CA350563873 |
1033 | S>F | No |
ClinGen gnomAD |
|
|
CA2112341 rs775082642 |
1033 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2112342 rs762633626 |
1034 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs763574915 CA2112343 |
1034 | R>H | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs751130147 CA2112344 |
1035 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2112345 COSM1186118 rs114349884 |
1037 | R>C | lung biliary_tract [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs376660525 CA2112346 COSM1016495 |
1037 | R>H | pancreas endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 1039 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2112347 rs750958257 |
1039 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA350563963 rs1223790805 |
1040 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 1042 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA65803345 rs913252711 |
1043 | R>* | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1471710466 CA350564000 |
1043 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA350563997 rs1471710466 |
1043 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA2112349 rs780599882 |
1044 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA65803347 rs201944426 |
1045 | F>L | No |
ClinGen Ensembl |
|
|
rs1280651902 CA350564052 |
1047 | I>V | No |
ClinGen gnomAD |
|
|
CA2112351 rs755306531 |
1049 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA350564083 rs755306531 |
1049 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA350564078 rs1477829142 |
1049 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1196551035 CA350564124 |
1052 | W>* | No |
ClinGen TOPMed |
|
|
rs191828090 CA2112354 |
1054 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 1055 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs914335878 CA65803354 |
1057 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1424530276 CA350564218 |
1059 | N>H | No |
ClinGen gnomAD |
|
|
rs1175724826 CA350564250 |
1061 | L>F | No |
ClinGen gnomAD |
|
|
rs1222723636 CA350564254 |
1061 | L>P | No |
ClinGen TOPMed |
|
|
COSM106859 CA65803412 rs146155590 |
1063 | G>E | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA65803414 rs114167978 |
1064 | V>A | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA65803413 rs114167978 |
1064 | V>E | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA2112376 rs779822305 |
1065 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1355698841 CA350564329 |
1066 | L>R | No |
ClinGen gnomAD |
|
|
CA2112379 rs773829938 |
1068 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200243926 CA2112377 |
1068 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747867167 CA350564340 |
1069 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA2112380 rs747867167 |
1069 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA2112381 rs759514706 |
1069 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA350564344 rs1458368273 |
1069 | S>R | No |
ClinGen TOPMed |
|
|
CA350564385 rs1166357617 |
1072 | Y>* | No |
ClinGen gnomAD |
|
|
CA2112382 rs772831298 |
1072 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA2112383 rs761256078 |
1073 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350564405 rs1559376471 |
1074 | G>R | No |
ClinGen Ensembl |
|
|
rs1559376476 CA350564439 |
1076 | H>R | No |
ClinGen Ensembl |
|
|
CA350564463 rs1319835845 |
1077 | M>I | No |
ClinGen gnomAD |
|
|
rs766922487 CA2112384 |
1077 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777287929 CA2112385 |
1079 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1265719179 CA350564489 |
1080 | V>F | No |
ClinGen gnomAD |
|
|
rs140352764 CA2112386 |
1083 | S>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2112387 rs765664371 |
1084 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765664371 CA350564541 |
1084 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs114912072 CA2112390 |
1086 | V>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA350564565 rs1208774898 |
1086 | V>L | No |
ClinGen gnomAD |
|
|
CA350564668 rs1417247216 |
1088 | S>C | No |
ClinGen TOPMed |
|
|
CA2112408 rs763083248 |
1089 | L>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1089 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1184686824 CA350564704 |
1090 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs761833177 CA2112411 |
1094 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA2112412 rs767618932 COSM3364580 |
1096 | I>V | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1023288880 CA65803595 |
1097 | S>P | No |
ClinGen TOPMed |
|
|
CA350564868 rs1023288880 |
1097 | S>T | No |
ClinGen TOPMed |
|
|
CA65803598 rs866110929 |
1098 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 1098 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350564948 rs1394147313 |
1100 | D>V | No |
ClinGen gnomAD |
|
|
CA2112414 rs34328285 |
1101 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350565004 rs1336397493 |
1102 | I>M | No |
ClinGen gnomAD |
|
|
rs550971240 CA65803604 |
1103 | L>F | No |
ClinGen Ensembl |
|
|
CA2112415 rs377293389 |
1104 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1278241897 CA350565052 |
1104 | N>S | No |
ClinGen TOPMed |
|
|
CA350565180 rs1575186305 |
1108 | K>E | No |
ClinGen Ensembl |
|
|
rs868167806 CA65803612 |
1108 | K>R | No |
ClinGen TOPMed |
|
|
rs868167806 CA350565196 |
1108 | K>T | No |
ClinGen TOPMed |
|
| TCGA novel | 1109 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2112417 rs191038371 |
1112 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA65803616 rs747637525 |
1112 | S>R | No |
ClinGen Ensembl |
|
|
CA2112418 rs777431975 |
1113 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs757027310 CA2112442 |
1116 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA65803790 rs909198667 |
1116 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1288459049 CA350565627 |
1117 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA350565668 rs1482630860 |
1118 | S>R | No |
ClinGen gnomAD |
|
|
rs780843495 CA2112443 |
1119 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350565797 rs1355285477 |
1124 | L>Q | No |
ClinGen gnomAD |
|
|
CA2112449 rs116515067 |
1126 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA350565866 rs1182620480 |
1127 | S>F | No |
ClinGen gnomAD |
|
|
rs774749581 CA2112450 |
1127 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2112453 rs773432432 |
1130 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs773432432 CA2112454 |
1130 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA350565928 rs1188672487 |
1131 | T>I | No |
ClinGen TOPMed |
|
|
CA2112456 rs148908284 |
1132 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2112458 rs763966094 |
1136 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1453494864 CA350565985 |
1136 | K>R | No |
ClinGen TOPMed |
|
|
rs757122476 CA2112460 |
1137 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs774148744 CA2112459 |
1137 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs9989776 CA2112461 VAR_057315 |
1138 | T>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2112462 rs750067304 |
1139 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs755611985 CA2112463 |
1143 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1143 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1212727130 CA350566064 |
1144 | P>A | No |
ClinGen TOPMed |
|
|
CA2112464 rs779473683 |
1144 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1222641663 CA350566081 |
1146 | P>H | No |
ClinGen gnomAD |
|
|
CA350566078 rs1380551808 |
1146 | P>S | No |
ClinGen gnomAD |
|
|
CA2112466 rs551609695 |
1147 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200601577 CA65803831 |
1148 | K>E | No |
ClinGen Ensembl |
|
|
CA2112467 rs755540341 |
1149 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA350566107 rs1216039719 |
1150 | S>G | No |
ClinGen gnomAD |
|
|
rs149440405 CA2112468 |
1150 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA65803840 rs149440405 |
1150 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA350566125 rs772444017 |
1152 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs772444017 CA2112470 |
1152 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs944867896 CA65803849 |
1154 | D>Y | No |
ClinGen TOPMed |
|
|
rs747232752 CA2112472 |
1155 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA2112473 rs771019043 |
1156 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA350566190 rs1159429440 |
1160 | K>E | No |
ClinGen gnomAD |
|
|
CA350566205 rs1324637288 |
1161 | E>D | No |
ClinGen TOPMed |
|
|
CA350566208 rs1433188510 |
1162 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2112474 rs776630617 |
1165 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762943397 CA2112475 |
1167 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350566253 rs1442100476 |
1167 | Q>R | No |
ClinGen gnomAD |
|
|
rs1322331782 CA350566259 |
1168 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs369162794 CA2112476 |
1168 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2112478 rs761652522 |
1169 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1019349938 CA65803867 |
1170 | P>H | No |
ClinGen Ensembl |
|
|
CA2112479 rs767454008 |
1172 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA350566298 rs1236124222 |
1173 | K>R | No |
ClinGen gnomAD |
|
|
rs1236124222 CA350566297 |
1173 | K>T | No |
ClinGen gnomAD |
|
|
CA350566305 rs1234746433 |
1174 | C>Y | No |
ClinGen gnomAD |
|
|
CA65803882 rs376382314 |
1177 | Q>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1304136958 CA350566330 |
1178 | T>S | No |
ClinGen gnomAD |
|
|
CA350566345 rs1202311996 |
1179 | S>L | No |
ClinGen gnomAD |
|
| TCGA novel | 1180 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA350566414 rs1234558715 |
1182 | S>Y | No |
ClinGen gnomAD |
|
|
rs554702609 CA2112482 |
1186 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA65803889 rs775659005 |
1187 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775659005 CA2112483 |
1187 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA350566541 rs1240064744 |
1188 | Q>* | No |
ClinGen TOPMed |
|
|
CA2112484 rs75677398 |
1190 | I>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA350566584 rs75677398 |
1190 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs754492685 CA2112485 |
1191 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA2112486 rs779339823 |
1193 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1049524762 CA65803895 |
1193 | S>T | No |
ClinGen TOPMed |
|
|
CA65803900 rs888085822 |
1194 | L>F | No |
ClinGen TOPMed |
|
|
CA2112489 rs116377895 |
1196 | A>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1324627173 CA350566784 |
1197 | V>G | No |
ClinGen gnomAD |
|
|
CA350566767 rs953781965 |
1197 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA65803911 rs953781965 |
1197 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA65803914 rs575537780 |
1198 | S>N | No |
ClinGen 1000Genomes |
|
|
rs1298336139 CA350566789 |
1198 | S>R | No |
ClinGen Ensembl |
|
|
CA2112490 rs576734702 |
1198 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1449976082 CA350566837 |
1199 | P>L | No |
ClinGen gnomAD |
|
|
CA350566844 rs1275110261 |
1200 | P>Q | No |
ClinGen gnomAD |
|
|
rs1575187105 CA350566854 |
1200 | P>Y | No |
ClinGen Ensembl |
No associated diseases with Q14679
No regional properties for Q14679
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q14679 | |||
Functions
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| 9+0 non-motile cilium | A non-motile cilium where the axoneme has a ring of nine outer microtubule doublets but no central microtubules (and is therefore called a 9+0 axoneme). |
| ciliary basal body | A membrane-tethered, short cylindrical array of microtubules and associated proteins found at the base of a eukaryotic cilium (also called flagellum) that is similar in structure to a centriole and derives from it. The cilium basal body is the site of assembly and remodelling of the cilium and serves as a nucleation site for axoneme growth. As well as anchoring the cilium, it is thought to provide a selective gateway regulating the entry of ciliary proteins and vesicles by intraflagellar transport. |
| cilium | A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| microtubule | Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| metal ion binding | Binding to a metal ion. |
| protein-glutamic acid ligase activity | Catalysis of the posttranslational transfer of one or more glutamate residues to a specific residue on a target protein. |
| tubulin binding | Binding to monomeric or multimeric forms of tubulin, including microtubules. |
| tubulin-glutamic acid ligase activity | Catalysis of the posttranslational transfer of one or more glutamate residues to the gamma-carboxyl group(s) of one or more specific glutamate residues on a tubulin molecule. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| microtubule cytoskeleton organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising microtubules and their associated proteins. |
| peptidyl-glutamic acid modification | The modification of peptidyl-glutamic acid. |
| protein polyglutamylation | The addition of one or more alpha-linked glutamyl units to the gamma carboxyl group of peptidyl-glutamic acid. |
| regulation of blastocyst development | Any process that modulates the frequency, rate or extent of blastocyst development. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9BWV7 | TTLL2 | Probable tubulin polyglutamylase TTLL2 | Homo sapiens (Human) | PR |
| Q6ZT98 | TTLL7 | Tubulin polyglutamylase TTLL7 | Homo sapiens (Human) | PR |
| Q3SXZ7 | TTLL9 | Probable tubulin polyglutamylase TTLL9 | Homo sapiens (Human) | PR |
| Q09647 | ttll-4 | Tubulin polyglutamylase ttll-4 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MASAGTQHYS | IGLRQKNSFK | QSGPSGTVPA | TPPEKPSEGR | VWPQAHQQVK | PIWKLEKKQV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ETLSAGLGPG | LLGVPPQPAY | FFCPSTLCSS | GTTAVIAGHS | SSCYLHSLPD | LFNSTLLYRR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SSYRQKPYQQ | LESFCLRSSP | SEKSPFSLPQ | KSLPVSLTAN | KATSSMVFSM | AQPMASSSTE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PYLCLAAAGE | NPSGKSLASA | ISGKIPSPLS | SSYKPMLNNN | SFMWPNSTPV | PLLQTTQGLK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PVSPPKIQPV | SWHHSGGTGD | CAPQPVDHKV | PKSIGTVPAD | ASAHIALSTA | SSHDTSTTSV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ASSWYNRNNL | AMRAEPLSCA | LDDSSDSQDP | TKEIRFTEAV | RKLTARGFEK | MPRQGCQLEQ |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SSFLNPSFQW | NVLNRSRRWK | PPAVNQQFPQ | EDAGSVRRVL | PGASDTLGLD | NTVFCTKRIS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| IHLLASHASG | LNHNPACESV | IDSSAFGEGK | APGPPFPQTL | GIANVATRLS | SIQLGQSEKE |
| 490 | 500 | 510 | 520 | 530 | 540 |
| RPEEARELDS | SDRDISSATD | LQPDQAETED | TEEELVDGLE | DCCSRDENEE | EEGDSECSSL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SAVSPSESVA | MISRSCMEIL | TKPLSNHEKV | VRPALIYSLF | PNVPPTIYFG | TRDERVEKLP |
| 610 | 620 | 630 | 640 | 650 | 660 |
| WEQRKLLRWK | MSTVTPNIVK | QTIGRSHFKI | SKRNDDWLGC | WGHHMKSPSF | RSIREHQKLN |
| 670 | 680 | 690 | 700 | 710 | 720 |
| HFPGSFQIGR | KDRLWRNLSR | MQSRFGKKEF | SFFPQSFILP | QDAKLLRKAW | ESSSRQKWIV |
| 730 | 740 | 750 | 760 | 770 | 780 |
| KPPASARGIG | IQVIHKWSQL | PKRRPLLVQR | YLHKPYLISG | SKFDLRIYVY | VTSYDPLRIY |
| 790 | 800 | 810 | 820 | 830 | 840 |
| LFSDGLVRFA | SCKYSPSMKS | LGNKFMHLTN | YSVNKKNAEY | QANADEMACQ | GHKWALKALW |
| 850 | 860 | 870 | 880 | 890 | 900 |
| NYLSQKGVNS | DAIWEKIKDV | VVKTIISSEP | YVTSLLKMYV | RRPYSCHELF | GFDIMLDENL |
| 910 | 920 | 930 | 940 | 950 | 960 |
| KPWVLEVNIS | PSLHSSSPLD | ISIKGQMIRD | LLNLAGFVLP | NAEDIISSPS | SCSSSTTSLP |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| TSPGDKCRMA | PEHVTAQKMK | KAYYLTQKIP | DQDFYASVLD | VLTPDDVRIL | VEMEDEFSRR |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| GQFERIFPSH | ISSRYLRFFE | QPRYFNILTT | QWEQKYHGNK | LKGVDLLRSW | CYKGFHMGVV |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| SDSAPVWSLP | TSLLTISKDD | VILNAFSKSE | TSKLGKQSSC | EVSLLLSEDG | TTPKSKKTQA |
| 1150 | 1160 | 1170 | 1180 | 1190 | |
| GLSPYPQKPS | SSKDSEDTSK | EPSLSTQTLP | VIKCSGQTSR | LSASSTFQSI | SDSLLAVSP |