Q9UBT6
PR
Gene name |
POLK (DINB1) |
Protein name |
DNA polymerase kappa |
Names |
DINB protein, DINP |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:51426 |
EC number |
2.7.7.7: Nucleotidyltransferases |
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
20 structures for Q9UBT6
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1T94 | X-ray | 240 A | A/B | 68-526 | PDB |
| 2LSI | NMR | - | B | 562-577 | PDB |
| 2OH2 | X-ray | 305 A | A/B | 19-526 | PDB |
| 2W7O | X-ray | 316 A | A/B | 19-526 | PDB |
| 2W7P | X-ray | 371 A | A/B | 19-526 | PDB |
| 3IN5 | X-ray | 320 A | A/B | 19-526 | PDB |
| 3PZP | X-ray | 334 A | A/B | 19-528 | PDB |
| 4BA9 | X-ray | 273 A | A/B/C/D/E/F | 563-575 | PDB |
| 4GK5 | X-ray | 321 A | G | 564-573 | PDB |
| 4U6P | X-ray | 259 A | A/B | 1-526 | PDB |
| 4U7C | X-ray | 280 A | A/B | 27-518 | PDB |
| 5T14 | X-ray | 300 A | A/B | 1-527 | PDB |
| 5W2A | X-ray | 290 A | A/B | 1-526 | PDB |
| 5W2C | X-ray | 250 A | A/B | 1-526 | PDB |
| 6BRX | X-ray | 280 A | A/B | 1-526 | PDB |
| 6BS1 | X-ray | 315 A | A/B | 1-526 | PDB |
| 6CST | X-ray | 200 A | A/B | 1-526 | PDB |
| 7NV0 | EM | 340 A | A | 1-870 | PDB |
| 7NV1 | EM | 640 A | A | 1-870 | PDB |
| AF-Q9UBT6-F1 | Predicted | AlphaFoldDB |
701 variants for Q9UBT6
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA211138 RCV000170554 RCV001706187 rs148960463 |
29 | E>K | Malignant tumor of prostate [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000785137 CA213311 RCV000170546 rs863225454 |
137 | S>F | Malignant tumor of prostate [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000170548 rs749804502 CA211133 |
154 | G>E | Malignant tumor of prostate Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1554059550 CA211131 RCV000170545 |
155 | F>S | Malignant tumor of prostate [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1554059573 CA211134 RCV000170549 |
171 | F>S | Malignant tumor of prostate [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs111584802 CA211135 RCV000170550 |
419 | E>G | Malignant tumor of prostate [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1554062741 CA211137 RCV000170552 |
430 | E>G | Malignant tumor of prostate [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1554062789 CA211132 RCV000170547 |
442 | L>F | Malignant tumor of prostate [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000170565 rs1304454699 CA211146 |
449 | E>K | Malignant tumor of prostate [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA211142 RCV000170561 rs1554063600 |
461 | K>E | Malignant tumor of prostate [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000170562 CA211143 rs1554063656 |
487 | I>T | Malignant tumor of prostate [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs139591993 CA211139 RCV000170557 |
528 | S>C | Malignant tumor of prostate [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs1554064175 CA211140 RCV000170558 |
551 | D>V | Malignant tumor of prostate [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000170560 rs863225457 CA213314 |
581 | D>N | Malignant tumor of prostate [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA213312 rs863225455 RCV000170555 |
678 | S>F | Malignant tumor of prostate [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs863225456 RCV000170556 CA213313 |
731 | L>H | Malignant tumor of prostate [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1554064740 CA211144 RCV000170563 |
866 | D>E | Malignant tumor of prostate [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA360131295 rs1178249730 |
2 | D>G | No |
ClinGen gnomAD |
|
|
CA3309462 rs781584871 |
2 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3309463 rs200083664 |
3 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA360132318 rs1561357824 |
7 | K>R | No |
ClinGen Ensembl |
|
|
rs1372773648 CA360132334 |
8 | C>G | No |
ClinGen gnomAD |
|
|
rs780185764 CA3309465 |
8 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs749497296 CA3309466 |
8 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs774454489 CA3309468 |
9 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs201573914 CA3309470 |
10 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201573914 CA3309469 |
10 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs117208807 CA360132449 |
12 | K>E | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA120923829 rs117208807 |
12 | K>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA3309473 rs372575097 |
13 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3309472 rs759337666 |
13 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1265095065 CA360132522 |
14 | D>E | No |
ClinGen gnomAD |
|
|
rs775485438 CA3309474 |
14 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA360132576 rs1488900113 |
18 | R>G | No |
ClinGen gnomAD |
|
|
CA3309475 rs558289672 |
20 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA120923887 rs3104729 |
21 | L>F | No |
ClinGen Ensembl |
|
| TCGA novel | 24 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756745350 CA3309478 |
27 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs768014953 CA3309479 |
28 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1561358041 CA360132928 |
32 | D>G | No |
ClinGen Ensembl |
|
|
rs1164450909 CA360132926 |
32 | D>Y | No |
ClinGen gnomAD |
|
|
CA360132998 rs1170085612 |
35 | K>E | No |
ClinGen Ensembl |
|
|
rs756683294 CA3309480 |
36 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 39 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA120923986 rs3094258 |
39 | I>T | No |
ClinGen Ensembl |
|
|
CA3309481 rs780372614 |
39 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1363805319 CA360133115 |
40 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1299729614 CA360133148 |
41 | M>T | No |
ClinGen gnomAD |
|
|
CA120923996 rs145672892 |
41 | M>V | No |
ClinGen ESP gnomAD |
|
|
CA120924016 rs961339066 |
43 | A>T | No |
ClinGen TOPMed |
|
|
rs182817281 CA3309482 |
44 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs370547427 CA3309500 |
46 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755311968 CA3309502 |
47 | S>Y | No |
ClinGen ExAC |
|
|
CA3309503 rs779123812 |
48 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs752857230 COSM72246 CA3309504 |
48 | R>I | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1321204597 CA360135200 |
49 | F>C | No |
ClinGen TOPMed |
|
|
rs1580999792 CA360135214 |
50 | Y>C | No |
ClinGen Ensembl |
|
| TCGA novel | 51 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 53 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360135288 rs1310662821 |
54 | L>V | No |
ClinGen TOPMed |
|
|
rs1432926521 CA360135368 |
57 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA360135412 rs1472689424 |
59 | Q>* | No |
ClinGen gnomAD |
|
|
CA120927932 rs786205689 |
61 | N>D | No |
ClinGen Ensembl |
|
|
CA360135509 rs1422414064 |
62 | Q>* | No |
ClinGen gnomAD |
|
|
CA3309507 rs182510674 |
62 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs747127083 CA120927960 |
63 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1287194357 CA360135531 |
63 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA3309510 rs563441621 |
64 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3309509 rs769816183 |
64 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 67 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1350135173 CA360135626 |
67 | M>K | No |
ClinGen gnomAD |
|
|
CA120927977 rs906192189 |
67 | M>V | No |
ClinGen Ensembl |
|
|
rs749058868 CA3309511 |
70 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1281397943 CA360135785 |
71 | K>I | No |
ClinGen gnomAD |
|
|
rs1219231429 CA360135826 |
73 | Q>E | No |
ClinGen gnomAD |
|
|
rs1279961733 CA360135849 |
73 | Q>H | No |
ClinGen gnomAD |
|
|
rs1350614804 CA360135866 |
74 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs774272356 CA3309513 |
78 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA120928112 rs757291075 |
81 | K>E | No |
ClinGen Ensembl |
|
|
rs761361731 CA3309514 |
82 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1036427726 CA120928137 |
85 | Q>H | No |
ClinGen gnomAD |
|
|
rs138420949 CA3309516 |
85 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360140885 rs1339856940 |
86 | V>A | No |
ClinGen TOPMed |
|
|
CA360140880 rs1230101077 |
86 | V>F | No |
ClinGen gnomAD |
|
|
CA360140875 rs1230101077 |
86 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 90 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3309533 rs142907860 |
90 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3309534 rs546760534 |
91 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1207478800 CA360140979 |
92 | E>K | No |
ClinGen gnomAD |
|
|
rs772860689 CA3309535 |
93 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA360141018 rs1430190237 |
94 | E>V | No |
ClinGen gnomAD |
|
|
CA360141023 rs1185185828 |
95 | Q>* | No |
ClinGen gnomAD |
|
|
CA3309537 rs770423121 |
97 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs1165916200 CA360141038 |
97 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA360141061 rs1420204748 |
100 | S>I | No |
ClinGen gnomAD |
|
|
CA360141079 rs1390061264 COSM483043 COSM483044 |
103 | I>V | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA360141093 rs1231201716 |
105 | H>Y | No |
ClinGen TOPMed |
|
|
CA360141103 rs1581043494 |
106 | I>T | No |
ClinGen Ensembl |
|
|
rs1413384504 CA360141115 |
108 | M>V | No |
ClinGen Ensembl |
|
|
CA3309542 rs528175397 |
109 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360141149 rs1409986767 |
112 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1344678997 CA360141160 |
114 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA360141163 rs1462066106 |
114 | A>V | No |
ClinGen gnomAD |
|
|
rs1326575959 CA360141166 |
115 | V>L | No |
ClinGen gnomAD |
|
|
rs1280511931 CA360141173 |
116 | E>A | No |
ClinGen gnomAD |
|
|
rs1561382376 CA360141171 |
116 | E>K | No |
ClinGen Ensembl |
|
|
CA3309543 rs763434320 |
117 | M>I | No |
ClinGen ExAC |
|
|
CA360141197 rs1227272537 |
119 | D>G | No |
ClinGen gnomAD |
|
|
rs751839381 CA3309545 |
121 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs373033573 CA3309544 |
121 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1255289942 CA360141234 |
124 | K>N | No |
ClinGen gnomAD |
|
|
CA360141231 rs1215074942 |
124 | K>T | No |
ClinGen gnomAD |
|
|
rs1204883680 CA360141243 |
125 | D>E | No |
ClinGen gnomAD |
|
|
CA360141241 rs1467755682 |
125 | D>G | No |
ClinGen gnomAD |
|
|
CA3309546 rs146120634 |
127 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360141256 rs146120634 |
127 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs187669648 CA3309547 |
128 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3309548 rs755775048 |
130 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA360141277 CA120941096 rs755775048 |
130 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA3309550 rs193245518 |
133 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs193245518 CA3309549 |
133 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1158571061 CA360141324 |
134 | S>G | No |
ClinGen gnomAD |
|
|
rs1364434619 CA360141331 |
134 | S>N | No |
ClinGen gnomAD |
|
|
CA120941118 rs1022828826 |
135 | M>T | No |
ClinGen TOPMed |
|
|
CA360142308 rs1384589941 |
138 | T>A | No |
ClinGen gnomAD |
|
|
rs1356684447 CA360142320 |
140 | N>D | No |
ClinGen gnomAD |
|
|
rs1045228559 CA120943848 |
141 | Y>C | No |
ClinGen TOPMed |
|
|
CA360142337 rs1236378911 |
142 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3309574 rs543440102 |
142 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs780922106 CA3309576 |
144 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA120943850 rs979366857 |
146 | F>S | No |
ClinGen TOPMed |
|
|
CA3309577 rs556931783 |
149 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs867609417 CA120943857 |
149 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1290917270 CA360142388 |
150 | A>E | No |
ClinGen gnomAD |
|
|
CA3309579 rs779781791 |
151 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA360142400 rs1266725766 |
152 | M>I | No |
ClinGen gnomAD |
|
|
CA3309580 rs749804502 |
154 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1220807219 CA360142449 |
156 | I>V | No |
ClinGen TOPMed |
|
|
CA360142507 rs1196042791 |
159 | R>S | No |
ClinGen gnomAD |
|
|
CA360142514 rs1340787660 |
160 | L>V | No |
ClinGen TOPMed |
|
|
CA360142554 rs1388783713 |
162 | P>L | No |
ClinGen gnomAD |
|
|
CA120943890 rs111437162 |
163 | Q>R | No |
ClinGen Ensembl |
|
|
CA120943894 rs368603231 |
165 | I>T | No |
ClinGen TOPMed |
|
|
CA3309583 rs774828871 |
168 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA3309582 rs769338634 |
168 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs148385845 CA3309584 |
169 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 170 | N>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA120943968 rs952168840 |
174 | Y>C | No |
ClinGen Ensembl |
|
|
CA3309586 rs773484677 |
175 | R>* | No |
ClinGen ExAC gnomAD |
|
|
COSM241213 rs760869027 CA3309587 COSM241214 |
175 | R>Q | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs766469149 CA3309588 |
178 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360142842 rs753966979 |
179 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3309589 rs753966979 |
179 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1309530063 CA360142868 |
180 | E>D | No |
ClinGen gnomAD |
|
|
CA3309590 rs370178441 |
180 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs930018539 CA120946015 |
181 | V>F | No |
ClinGen TOPMed |
|
|
rs188815580 CA3309605 |
182 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1482484258 CA360143543 |
184 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA120946026 rs786205683 |
186 | A>D | No |
ClinGen Ensembl |
|
|
CA360143555 rs1418097062 |
186 | A>T | No |
ClinGen TOPMed |
|
|
CA120946031 rs786205681 |
187 | D>A | No |
ClinGen Ensembl |
|
|
rs776650570 CA3309608 |
188 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA120946039 rs111689950 |
189 | D>G | No |
ClinGen Ensembl |
|
|
CA360143575 rs759635845 |
189 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3309609 rs759635845 |
189 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360143589 rs1401277578 |
191 | N>S | No |
ClinGen gnomAD |
|
|
CA3309610 rs150515841 |
192 | F>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360143595 rs1161200945 |
192 | F>L | No |
ClinGen gnomAD |
|
|
rs1215299805 CA360143642 |
198 | D>G | No |
ClinGen TOPMed |
|
|
rs139445546 CA3309611 |
198 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368533237 CA3309612 |
201 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA120946053 rs374340536 |
201 | Y>N | No |
ClinGen ESP |
|
|
rs371468039 CA3309614 |
202 | L>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA360143676 rs1416830516 |
203 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs538327513 CA3309615 |
204 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1337072213 CA360143707 |
205 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 207 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3309616 rs766163460 |
209 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA3309618 rs754537232 |
215 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA120946152 rs970034046 |
216 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs748672584 CA3309620 |
218 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA3309621 rs3104717 |
219 | R>I | No |
ClinGen ExAC gnomAD |
|
|
rs1229815032 CA813995831 |
221 | Y>* | No |
ClinGen TOPMed |
|
|
COSM1070121 CA360143939 rs1250521415 COSM1070122 |
221 | Y>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA3309622 rs778169052 |
223 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA120946162 rs149274390 |
224 | K>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA3309624 rs771091455 |
228 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1173823396 CA360144045 |
229 | V>I | No |
ClinGen gnomAD |
|
|
rs938335002 CA120946174 |
231 | N>S | No |
ClinGen TOPMed |
|
|
rs745881670 CA3309626 |
232 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs757623079 CA360144728 |
233 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA3309647 rs757623079 |
233 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs113372789 CA3309648 |
234 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA120953702 rs113372789 |
234 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746078858 CA3309649 |
237 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1437012053 CA360144822 |
239 | N>Y | No |
ClinGen gnomAD |
|
|
CA360144843 rs770053230 |
240 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA3309650 rs770053230 |
240 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA3309651 rs775611156 |
241 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA360144886 rs1561395554 |
243 | E>K | No |
ClinGen Ensembl |
|
|
CA3309652 rs201034973 |
246 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs772000084 CA3309653 |
246 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1467974752 CA360144958 |
247 | S>P | No |
ClinGen gnomAD |
|
|
rs1000944297 CA120953751 |
248 | I>S | No |
ClinGen TOPMed |
|
|
rs778665793 CA3309656 |
248 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1382255380 CA360144997 |
250 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA3309657 rs145265233 |
251 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs934980261 CA120953755 |
252 | L>F | No |
ClinGen Ensembl |
|
|
rs894981954 CA120953773 |
256 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1554060772 CA3309659 |
257 | P>A | No |
ClinGen Ensembl |
|
|
CA360145089 rs1475911762 |
257 | P>L | No |
ClinGen gnomAD |
|
|
CA360145119 rs1170008713 |
260 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA3309661 rs759231525 |
262 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs764827018 CA3309662 |
264 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3309663 rs557718700 |
265 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA360145159 rs1429578121 |
266 | P>R | No |
ClinGen gnomAD |
|
|
rs1396742705 CA360145179 |
269 | V>E | No |
ClinGen gnomAD |
|
|
rs762382051 CA3309664 |
270 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs147610161 CA3309665 |
271 | F>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752005211 CA3309666 |
272 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360145214 rs1282199897 |
274 | Q>L | No |
ClinGen gnomAD |
|
|
CA360145228 rs1446529535 |
276 | N>D | No |
ClinGen TOPMed |
|
|
CA360145232 rs1333955713 |
276 | N>S | No |
ClinGen gnomAD |
|
|
rs1233790999 CA360145243 |
278 | Q>* | No |
ClinGen gnomAD |
|
|
CA120953841 rs970644341 |
280 | L>F | No |
ClinGen TOPMed |
|
|
rs1004979015 CA120953846 |
282 | N>D | No |
ClinGen TOPMed |
|
|
CA120953863 rs372026257 |
282 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360145343 rs1220725716 |
284 | V>A | No |
ClinGen TOPMed |
|
|
CA120953889 rs1014578762 |
287 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA360145414 rs1284445884 |
289 | S>P | No |
ClinGen TOPMed |
|
|
CA3309669 rs750829402 |
290 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA360145430 rs1204047953 |
290 | A>P | No |
ClinGen gnomAD |
|
|
rs1204047953 CA360145427 |
290 | A>T | No |
ClinGen gnomAD |
|
|
rs142203892 CA3309670 |
292 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA360145473 rs1297069506 |
293 | V>A | No |
ClinGen TOPMed |
|
|
CA3309671 rs780166089 |
293 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 295 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1438586 rs200548318 CA3309672 COSM1438585 |
298 | R>C | large_intestine Variant assessed as Somatic; 4.622e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs151251843 CA3309673 |
298 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3309674 rs779105302 |
299 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs746918425 CA3309675 |
301 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA360145759 rs1253918632 |
306 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs867940075 CA120953953 |
309 | A>V | No |
ClinGen Ensembl |
|
|
CA360145864 rs1385835830 |
310 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1384113200 CA360145872 |
310 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1371462947 CA360145889 |
311 | A>V | No |
ClinGen TOPMed |
|
|
rs762492485 CA3309706 |
312 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA360146491 rs1301705353 |
313 | I>V | No |
ClinGen TOPMed |
|
|
rs868600580 CA360146503 COSM345773 COSM345772 |
314 | A>S | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA120955485 rs868600580 |
314 | A>T | No |
ClinGen gnomAD |
|
|
rs1212650998 CA360146526 |
315 | P>R | No |
ClinGen gnomAD |
|
|
rs773814399 CA3309708 |
316 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1251897913 CA360146580 |
318 | M>I | No |
ClinGen gnomAD |
|
|
CA360146573 rs371176562 |
318 | M>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371176562 CA3309710 |
318 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368099022 CA3309709 |
318 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3309711 rs773700203 |
321 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1380054996 CA360146650 |
323 | C>S | No |
ClinGen TOPMed |
|
|
rs761298059 CA3309712 |
324 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA3309714 rs754266139 |
325 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360146684 rs766628193 |
325 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs766628193 CA3309713 |
325 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1175808645 CA360146761 |
328 | K>E | No |
ClinGen gnomAD |
|
|
rs755113914 CA3309715 |
329 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA3309716 rs765577060 |
331 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1461317084 CA360146831 |
331 | G>R | No |
ClinGen gnomAD |
|
|
CA360146848 rs866033896 |
332 | Q>* | No |
ClinGen gnomAD |
|
|
CA120955532 rs866033896 |
332 | Q>K | No |
ClinGen gnomAD |
|
|
rs1273997334 CA360146852 |
332 | Q>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 333 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758555974 CA3309718 |
334 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA3309719 rs778067363 |
335 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs745787282 CA3309720 COSM399168 COSM399169 |
336 | L>F | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs745787282 CA360146905 |
336 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756128225 CA3309722 |
338 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1306077397 CA360146939 |
339 | R>G | No |
ClinGen gnomAD |
|
|
rs1227168732 CA360146962 |
340 | Q>* | No |
ClinGen gnomAD |
|
|
CA360146977 rs1257901881 |
341 | A>P | No |
ClinGen TOPMed |
|
|
CA120955563 rs988684944 |
341 | A>V | No |
ClinGen Ensembl |
|
|
CA360146997 rs1252333676 |
342 | V>A | No |
ClinGen gnomAD |
|
|
rs1481902736 CA360147014 |
343 | M>T | No |
ClinGen gnomAD |
|
|
CA360147029 rs1212428969 |
344 | D>N | No |
ClinGen gnomAD |
|
|
rs1469993657 CA360147068 |
345 | F>S | No |
ClinGen gnomAD |
|
|
rs1212153474 CA360147082 |
346 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs768146701 CA3309724 |
348 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1283577950 CA360147149 |
349 | L>I | No |
ClinGen TOPMed |
|
|
CA3309725 rs528839357 |
350 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA360147178 rs1311933966 |
350 | P>R | No |
ClinGen TOPMed |
|
|
rs528839357 CA3309726 |
350 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3309727 rs771553473 |
351 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA120956362 rs182404921 |
356 | G>R | No |
ClinGen Ensembl |
|
|
CA3309747 rs771749538 |
362 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs772666412 CA3309748 |
363 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1356658137 CA360147479 |
364 | M>I | No |
ClinGen gnomAD |
|
|
CA3309749 COSM1438590 COSM1438589 rs746549263 |
364 | M>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA3309751 rs777198545 |
367 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA360147506 rs1292653108 |
369 | G>R | No |
ClinGen gnomAD |
|
|
CA3309753 rs770269433 |
371 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs776047465 CA3309754 |
373 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1484533927 CA360147533 |
373 | C>S | No |
ClinGen gnomAD |
|
| TCGA novel | 374 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3309755 rs763237470 |
375 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3309756 rs764444292 |
378 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA120956473 rs1035353121 |
380 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1373247798 CA360147588 |
381 | A>T | No |
ClinGen gnomAD |
|
|
CA120956489 rs960097666 |
381 | A>V | No |
ClinGen TOPMed |
|
|
rs761970289 CA3309758 |
383 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs911603025 CA120956499 |
383 | L>V | No |
ClinGen Ensembl |
|
|
rs1164098965 CA360147621 |
387 | F>L | No |
ClinGen TOPMed |
|
|
CA3309760 rs547011939 |
388 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs766166014 CA3309759 |
388 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs752517000 CA3309763 |
391 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA3309764 rs757994841 |
392 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA360147655 rs757994841 |
392 | W>L | No |
ClinGen ExAC gnomAD |
|
|
rs1210506898 CA360147662 |
393 | H>L | No |
ClinGen gnomAD |
|
|
rs1210506898 CA360147663 |
393 | H>R | No |
ClinGen gnomAD |
|
|
rs1345988580 CA360147661 |
393 | H>Y | No |
ClinGen gnomAD |
|
|
CA3309765 rs777493518 |
395 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs746435774 CA120956550 |
396 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746435774 CA3309766 |
396 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360147684 rs1202302375 |
396 | L>P | No |
ClinGen gnomAD |
|
|
CA360147691 rs1480637098 |
397 | H>R | No |
ClinGen gnomAD |
|
|
CA360147695 rs1392787774 |
398 | I>V | No |
ClinGen gnomAD |
|
|
rs746364862 CA3309769 |
401 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3309768 rs780624973 |
401 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs746364862 CA360147717 |
401 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360147718 rs1396027402 |
402 | L>V | No |
ClinGen gnomAD |
|
|
CA3309770 rs112195554 |
403 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3309772 rs763434745 |
406 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA3309771 rs775957841 |
406 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs774641563 CA3309774 |
408 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1217603344 CA360147756 |
409 | R>G | No |
ClinGen TOPMed |
|
|
CA360147758 rs1293994262 |
409 | R>K | No |
ClinGen gnomAD |
|
|
rs1291485938 CA360148665 |
409 | R>S | No |
ClinGen gnomAD |
|
|
rs772211896 CA3309801 |
411 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1186980513 CA360148680 |
412 | E>K | No |
ClinGen TOPMed |
|
|
CA120958116 rs919813257 |
413 | R>G | No |
ClinGen Ensembl |
|
|
CA360148712 rs1257681633 |
416 | M>V | No |
ClinGen TOPMed |
|
|
CA3309806 rs775400319 |
418 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3309805 rs138877411 |
418 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 420 | R>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3309826 rs779292513 |
421 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1302522999 CA360148861 |
422 | F>L | No |
ClinGen TOPMed |
|
|
VAR_048886 rs35257416 CA3309827 |
423 | S>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs5744693 CA360148910 |
425 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1312220405 CA360148904 |
425 | I>T | No |
ClinGen gnomAD |
|
|
CA3309830 rs773425937 |
426 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 428 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360148946 rs1415289826 |
428 | A>S | No |
ClinGen gnomAD |
|
|
CA3309831 rs747297092 |
428 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1185142409 CA360148972 |
430 | E>Q | No |
ClinGen TOPMed |
|
|
rs776740469 CA3309832 |
431 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA3309834 rs569469180 |
432 | Y>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA120960311 rs77612491 |
432 | Y>S | No |
ClinGen Ensembl |
|
|
CA360149035 rs1278597143 |
435 | C>R | No |
ClinGen gnomAD |
|
|
CA360149092 rs1201483035 |
439 | C>F | No |
ClinGen gnomAD |
|
|
CA3309835 rs369219315 |
439 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1258891284 CA360149098 |
440 | S>R | No |
ClinGen gnomAD |
|
|
CA120960334 rs372974353 |
441 | E>G | No |
ClinGen ESP |
|
|
rs974799841 CA120960341 |
443 | A>S | No |
ClinGen Ensembl |
|
|
rs923331114 CA120960343 |
444 | Q>P | No |
ClinGen Ensembl |
|
|
rs1381064168 CA360149164 |
445 | D>E | No |
ClinGen gnomAD |
|
|
CA360149157 rs1181171802 |
445 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs755891838 CA3309840 |
447 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA3309841 rs765969981 |
450 | R>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 450 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1260289647 CA360149206 |
452 | K>Q | No |
ClinGen gnomAD |
|
|
rs1328443523 CA360150235 |
454 | R>G | No |
ClinGen TOPMed |
|
|
CA360150318 rs1354534658 |
458 | I>L | No |
ClinGen TOPMed |
|
|
rs786205687 CA120963321 |
462 | N>S | No |
ClinGen Ensembl |
|
|
rs780243553 CA3309880 |
463 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1232058734 CA360150502 |
468 | K>Q | No |
ClinGen gnomAD |
|
|
rs1430425797 CA360150526 |
469 | T>I | No |
ClinGen TOPMed |
|
|
CA3309882 rs772180560 |
470 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs773105464 CA3309883 |
470 | R>H | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA360150538 rs773105464 |
470 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149894654 CA3309884 |
471 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1217060153 CA360150556 |
472 | S>C | No |
ClinGen gnomAD |
|
|
rs1485386474 CA360150553 |
472 | S>P | No |
ClinGen gnomAD |
|
|
rs186798689 CA3309886 |
473 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs786205682 CA120963350 |
474 | V>F | No |
ClinGen Ensembl |
|
|
rs374129312 CA3309888 |
475 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 478 | V>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1156419023 CA360150595 |
479 | S>C | No |
ClinGen gnomAD |
|
|
rs1156419023 CA360150596 |
479 | S>F | No |
ClinGen gnomAD |
|
|
rs1283040864 CA360150598 |
480 | T>A | No |
ClinGen gnomAD |
|
|
CA120963384 rs786205696 |
481 | A>T | No |
ClinGen gnomAD |
|
|
rs752301825 CA3309890 |
483 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1299169609 CA360150620 |
483 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA3309891 rs763401350 |
485 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA360150637 rs1302801638 |
486 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 486 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764615678 CA3309892 |
487 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs786205692 CA120963447 |
493 | K>E | No |
ClinGen Ensembl |
|
|
rs1287855170 CA360150701 |
495 | E>D | No |
ClinGen gnomAD |
|
|
rs1484584564 CA360150715 |
497 | D>V | No |
ClinGen gnomAD |
|
|
rs866587752 CA120963460 |
498 | A>D | No |
ClinGen Ensembl |
|
|
rs750604166 CA3309896 |
499 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 501 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360150753 rs779971260 |
503 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1174964188 CA360150754 |
503 | P>H | No |
ClinGen gnomAD |
|
|
CA3309898 rs779971260 |
503 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 504 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3309899 rs575482097 |
505 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs747004294 CA3309903 |
509 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1561411301 CA360150795 |
509 | M>R | No |
ClinGen Ensembl |
|
| TCGA novel | 510 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376654253 CA3309916 |
512 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3309915 rs142724854 |
512 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3309918 rs756237214 |
513 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs766632797 CA120965069 |
515 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs766632797 CA3309920 |
515 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA360151788 rs1369513783 |
515 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1349962286 CA360151816 |
517 | P>S | No |
ClinGen TOPMed |
|
|
CA3309921 rs753805980 |
518 | N>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1286593249 CA360151837 |
518 | N>S | No |
ClinGen TOPMed |
|
|
CA120965102 rs786205693 |
519 | E>A | No |
ClinGen gnomAD |
|
|
rs786205693 CA360151852 |
519 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 519 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3309922 rs541934841 |
520 | E>K | No |
ClinGen 1000Genomes ExAC |
|
|
rs1371455877 CA360151890 |
521 | D>G | No |
ClinGen TOPMed |
|
|
CA360151901 rs1464386911 |
522 | R>G | No |
ClinGen TOPMed |
|
|
CA360151906 rs1581109630 |
522 | R>K | No |
ClinGen Ensembl |
|
|
rs757314376 CA3309925 |
524 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs745707021 CA360151963 CA360151964 |
525 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA3309926 rs147350703 |
525 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA120965114 rs992615211 |
526 | Q>H | No |
ClinGen TOPMed |
|
|
CA360151980 rs1479223156 |
528 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs139591993 CA3309928 |
528 | S>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3309931 rs142201795 |
529 | I>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs142201795 CA3309930 |
529 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1183768784 CA360151993 |
530 | I>T | No |
ClinGen TOPMed |
|
|
CA120965159 rs867423497 |
530 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA360152018 rs1478470985 |
534 | Q>E | No |
ClinGen gnomAD |
|
|
CA3309933 rs762283213 |
536 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1351352955 CA360152042 |
537 | N>K | No |
ClinGen gnomAD |
|
|
rs1324491811 CA360152041 |
537 | N>S | No |
ClinGen gnomAD |
|
|
rs1046595414 CA120965170 |
542 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA3309935 rs773404789 |
542 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs761118414 CA3309936 |
545 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA360152095 rs1220453018 |
546 | T>A | No |
ClinGen gnomAD |
|
|
rs1290873804 CA360152128 |
550 | T>I | No |
ClinGen gnomAD |
|
|
CA360152147 rs1318728912 |
553 | D>E | No |
ClinGen gnomAD |
|
|
rs759880142 CA3309939 |
553 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA360152144 rs541607292 |
553 | D>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3309938 rs541607292 |
553 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3309937 rs541607292 |
553 | D>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs765386708 CA3309940 |
554 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs757103131 CA3309942 |
560 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360152206 rs1204850706 |
562 | S>P | No |
ClinGen TOPMed |
|
|
rs781194178 CA3309944 |
564 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs564665463 CA3309945 |
567 | F>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 567 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360152247 COSM3776845 rs1581109938 COSM3776844 |
567 | F>L | urinary_tract [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA360152260 rs1366752210 |
569 | D>A | No |
ClinGen gnomAD |
|
|
CA3309948 rs150567638 |
571 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3309949 rs200030625 COSM246704 COSM246703 |
572 | R>* | prostate [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs200030625 CA360152282 |
572 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200975008 CA3309950 |
572 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360152283 rs200975008 |
572 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1561414456 CA360152289 |
573 | S>* | No |
ClinGen Ensembl |
|
|
rs1360980292 CA360152292 |
574 | E>Q | No |
ClinGen gnomAD |
|
|
CA120965229 rs201860038 |
575 | R>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA3309952 rs747683584 |
576 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1581110074 CA360152314 |
577 | W>G | No |
ClinGen Ensembl |
|
|
rs1244886261 CA360152325 |
578 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA120965237 rs75174253 |
579 | H>Q | No |
ClinGen TOPMed |
|
|
CA360152348 rs1581110097 |
581 | D>G | No |
ClinGen Ensembl |
|
|
rs1561414542 CA360152352 |
582 | T>A | No |
ClinGen Ensembl |
|
|
CA3309953 rs772405555 |
582 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA120965242 rs786205690 |
583 | F>I | No |
ClinGen Ensembl |
|
|
rs1581110139 CA360152364 |
583 | F>L | No |
ClinGen Ensembl |
|
|
CA120965244 rs1029802756 |
585 | C>R | No |
ClinGen Ensembl |
|
|
CA360152387 rs1239036815 |
585 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA360152401 rs1308390772 |
586 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs773759011 CA3309954 |
587 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs199874440 CA3309955 |
587 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs139550633 CA360152428 CA120965273 |
588 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3309958 rs139550633 |
588 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 589 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369528511 CA120965277 |
590 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA360152466 rs1581110293 |
591 | Q>* | No |
ClinGen Ensembl |
|
|
rs765587496 CA3309959 |
592 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1438034503 CA360152481 |
592 | S>R | No |
ClinGen gnomAD |
|
|
CA360152504 rs1184637569 |
593 | F>S | No |
ClinGen TOPMed |
|
|
rs1380631480 CA360152524 |
594 | Q>H | No |
ClinGen gnomAD |
|
|
rs5744713 VAR_021246 CA3309960 |
595 | T>I | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
CA360152543 rs1401401564 |
596 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1396591085 CA360152555 |
597 | Q>* | No |
ClinGen gnomAD |
|
|
rs764138495 CA3309962 |
598 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs756044496 CA3309964 |
599 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs779799735 CA3309965 |
600 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1242880832 CA360152670 |
604 | K>N | No |
ClinGen TOPMed |
|
|
rs1448690364 CA360152663 |
604 | K>R | No |
ClinGen Ensembl |
|
|
rs753653393 CA3309967 |
605 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA3309969 rs145592747 |
606 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778476117 CA120965302 CA360152687 |
606 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs778476117 CA3309968 |
606 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1561415012 CA360152710 |
607 | N>I | No |
ClinGen Ensembl |
|
|
rs1468646176 CA360152713 |
607 | N>K | No |
ClinGen gnomAD |
|
|
CA360152726 rs1581110562 |
608 | E>G | No |
ClinGen Ensembl |
|
|
rs1002086982 CA120965308 |
610 | L>M | No |
ClinGen Ensembl |
|
|
CA120965309 rs960970076 |
612 | I>M | No |
ClinGen Ensembl |
|
|
CA3309970 rs3822587 VAR_021247 |
612 | I>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA3309972 rs376596083 |
613 | S>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA120965314 rs771611478 |
613 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA3309971 rs771611478 |
613 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA360152811 rs1477614204 |
614 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA120965331 rs748810124 |
617 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3309974 rs748810124 |
617 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3309975 rs777095872 |
619 | C>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 620 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1581110686 CA360152902 |
620 | Q>R | No |
ClinGen Ensembl |
|
|
rs1174277272 CA360152926 |
622 | L>F | No |
ClinGen gnomAD |
|
|
rs992271942 CA120965350 |
623 | T>N | No |
ClinGen Ensembl |
|
|
rs61749607 CA120965353 |
624 | C>Y | No |
ClinGen Ensembl |
|
|
CA360152986 rs1322468124 |
630 | A>S | No |
ClinGen TOPMed |
|
|
CA360153000 rs1464659304 |
632 | G>R | No |
ClinGen gnomAD |
|
|
rs759984361 CA3309977 |
632 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs770083166 CA3309978 |
633 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3309979 rs775841271 |
635 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs35501530 VAR_048887 CA3309980 |
635 | S>N | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA360153069 rs1234549860 |
638 | A>V | No |
ClinGen gnomAD |
|
|
rs774340822 CA3309982 |
640 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1459093312 CA360153117 |
642 | H>Y | No |
ClinGen TOPMed |
|
|
rs1198080400 CA360153231 |
650 | P>S | No |
ClinGen gnomAD |
|
|
rs1459238321 CA360153252 |
651 | S>L | No |
ClinGen gnomAD |
|
|
CA3309985 rs753560316 |
652 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA3309984 rs766331005 |
652 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA3309986 rs146540664 |
653 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360153298 rs1449248279 |
655 | N>D | No |
ClinGen TOPMed |
|
|
CA360153303 rs1388796669 |
655 | N>S | No |
ClinGen TOPMed |
|
|
CA120965417 rs1030801735 CA360153330 |
658 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs752367075 CA3309988 |
658 | M>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 659 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA120965418 rs535351080 |
660 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM257775 CA3309989 COSM257774 rs535351080 |
660 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA360153341 rs1328250436 |
660 | S>P | No |
ClinGen gnomAD |
|
|
rs746533896 CA3309991 |
661 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA120965424 rs989375843 |
662 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
CA3309992 rs757772546 |
662 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs572432356 CA120965436 |
663 | H>P | No |
ClinGen Ensembl |
|
|
rs746434148 CA3309995 |
663 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1339818268 CA360153372 |
665 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1218613764 CA360153388 |
668 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs151303145 CA3309996 |
669 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360153393 rs151303145 |
669 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3309997 rs776035355 |
671 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs749502207 CA3309998 |
671 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360153413 rs1488645605 |
672 | K>E | No |
ClinGen gnomAD |
|
|
CA360153438 rs1211408630 |
675 | V>F | No |
ClinGen gnomAD |
|
|
CA3310000 rs140527373 |
678 | S>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3310001 rs761799362 |
680 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360153473 rs1425090778 |
681 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
rs927744490 CA120965467 |
683 | K>T | No |
ClinGen TOPMed |
|
|
rs766242979 CA3310002 |
684 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA3310003 rs776548563 |
685 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 686 | Y>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 690 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360153554 rs1305314597 |
692 | I>T | No |
ClinGen gnomAD |
|
|
CA3310005 rs759513397 |
694 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1299364572 CA360153580 |
696 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 698 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3310007 rs200939225 |
698 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1226683459 CA360153601 |
699 | D>G | No |
ClinGen gnomAD |
|
|
rs1312182964 CA360153630 |
703 | L>F | No |
ClinGen gnomAD |
|
|
rs918775209 CA360153641 |
705 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
rs918775209 CA120965486 |
705 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs752460725 CA3310008 |
707 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA3310009 rs112308888 |
708 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3310011 rs751025235 |
710 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA3310012 rs756814310 |
711 | S>Y | No |
ClinGen ExAC |
|
|
rs909375643 CA120965510 |
712 | K>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1276474217 CA360153694 |
713 | A>V | No |
ClinGen TOPMed |
|
|
rs780916664 CA3310013 |
715 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3310014 rs746344183 |
715 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3310015 rs756732785 |
716 | I>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1256304589 CA360153709 |
716 | I>L | No |
ClinGen gnomAD |
|
|
rs1256304589 CA360153710 |
716 | I>V | No |
ClinGen gnomAD |
|
|
CA3310016 rs780414837 |
717 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 718 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA120965521 rs1039652421 |
721 | N>S | No |
ClinGen gnomAD |
|
|
rs1419494191 CA360153760 |
723 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA3310017 rs202124922 |
725 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3310018 rs768852989 |
727 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1446534493 CA360153799 |
728 | C>Y | No |
ClinGen gnomAD |
|
|
rs920957277 CA120965556 |
729 | S>F | No |
ClinGen Ensembl |
|
|
rs1450771190 CA360153818 |
731 | L>V | No |
ClinGen gnomAD |
|
|
CA360153832 rs1581111567 |
733 | S>G | No |
ClinGen Ensembl |
|
|
rs1287241088 CA360153847 |
735 | S>P | No |
ClinGen TOPMed |
|
|
CA3310021 rs201001392 |
737 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA120965562 COSM3780806 COSM3780805 rs933622465 |
738 | I>T | pancreas [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1375791827 CA360153868 |
738 | I>V | No |
ClinGen gnomAD |
|
|
CA3310022 rs369023912 |
739 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1352006595 CA360153885 |
740 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1310342562 CA360153889 |
741 | C>R | No |
ClinGen gnomAD |
|
|
CA360153910 rs1256028470 |
743 | Q>H | No |
ClinGen gnomAD |
|
|
rs1209381130 CA360153907 |
743 | Q>P | No |
ClinGen gnomAD |
|
|
CA3310024 rs759423197 |
744 | N>S | No |
ClinGen ExAC |
|
|
rs556005539 CA3310025 |
745 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs569748739 CA3310026 |
745 | S>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs372667611 CA3310027 |
747 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360153935 rs1171347399 |
748 | T>A | No |
ClinGen TOPMed |
|
|
CA3310029 rs751166149 |
748 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1007341676 CA120965585 |
750 | S>* | No |
ClinGen TOPMed |
|
|
CA3310032 rs749974281 |
751 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs767112625 CA360153950 |
751 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs143539365 CA3310034 |
754 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3310035 rs754169967 |
756 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA360154003 rs1171572556 |
758 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA360154016 rs1202101697 |
760 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs182398525 CA120965625 |
761 | Q>K | No |
ClinGen Ensembl |
|
|
CA3310039 rs772307321 |
763 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1581111917 CA360154036 |
763 | Y>S | No |
ClinGen Ensembl |
|
|
CA3310040 rs777793285 |
764 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA3310041 rs747097112 |
764 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1581111951 CA360154047 |
765 | Q>* | No |
ClinGen Ensembl |
|
|
CA3310043 rs775276619 |
767 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1362769001 CA360154059 |
767 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA360154067 rs1256932083 |
768 | L>V | No |
ClinGen gnomAD |
|
|
rs757766521 CA360154073 |
769 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3719758 rs757766521 COSM3719757 CA3310045 |
769 | C>R | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs757766521 CA3310044 |
769 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1477253339 CA360154091 |
771 | V>A | No |
ClinGen gnomAD |
|
|
CA360154087 rs1234909697 |
771 | V>M | No |
ClinGen gnomAD |
|
|
rs1191057442 CA360154098 |
772 | K>I | No |
ClinGen gnomAD |
|
| TCGA novel | 774 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1399693119 CA360154169 |
778 | V>A | No |
ClinGen gnomAD |
|
|
rs1331153599 CA360154182 |
779 | C>F | No |
ClinGen gnomAD |
|
|
CA3310049 rs374624451 |
779 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760270595 CA3310050 |
781 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA3310053 rs754272745 |
784 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754272745 CA3310052 |
784 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360154255 rs969331727 |
785 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA120965760 rs969331727 |
785 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA360154272 rs558331977 |
786 | Q>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs558331977 CA3310055 |
786 | Q>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3310056 rs753095504 |
786 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA120965785 rs927661811 |
788 | T>A | No |
ClinGen TOPMed |
|
|
CA3310057 rs181098391 |
788 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1215906583 CA360154326 |
790 | D>Y | No |
ClinGen gnomAD |
|
|
CA3310061 CA3310060 rs200965504 |
794 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1472629829 CA360154387 |
795 | N>H | No |
ClinGen TOPMed |
|
|
CA360154421 rs1270118211 |
797 | H>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA360154419 rs1270118211 |
797 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA360154428 rs1490976070 |
798 | V>M | No |
ClinGen gnomAD |
|
|
rs1192161935 CA360154449 |
799 | D>G | No |
ClinGen gnomAD |
|
|
rs1422943505 CA360154458 |
800 | V>I | No |
ClinGen gnomAD |
|
|
rs1185244525 CA360154471 |
801 | C>R | No |
ClinGen TOPMed |
|
|
rs1169801626 CA360154512 |
804 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 804 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3310063 rs768660964 |
805 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1411890444 CA360154532 |
805 | S>T | No |
ClinGen gnomAD |
|
|
CA360154556 rs1323943777 |
807 | I>F | No |
ClinGen gnomAD |
|
|
CA120965826 rs770519290 |
808 | Q>E | No |
ClinGen Ensembl |
|
| TCGA novel | 809 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3310066 rs747957092 |
810 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA3310068 rs772982794 |
813 | D>E | No |
ClinGen ExAC TOPMed |
|
|
CA3310067 rs771787995 |
813 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1581112425 CA360154662 |
814 | K>Q | No |
ClinGen Ensembl |
|
|
CA3310069 rs376216977 |
817 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776230314 CA3310071 |
818 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs185752953 CA3310073 |
819 | N>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1263104865 CA360154724 |
819 | N>S | No |
ClinGen gnomAD |
|
|
rs765781291 CA3310074 |
820 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs753003288 CA3310075 |
821 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs758748781 CA3310076 |
822 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370909869 CA3310077 |
823 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3310078 rs751750259 |
825 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA3310079 rs757546785 |
826 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3310080 rs143919595 |
828 | T>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA120966203 rs764516904 |
829 | G>D | No |
ClinGen gnomAD |
|
|
rs1311681840 CA360154824 |
832 | S>G | No |
ClinGen TOPMed |
|
|
VAR_021248 CA3310094 rs5744716 |
832 | S>N | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA360154851 rs1364208803 |
835 | Q>* | No |
ClinGen gnomAD |
|
|
rs763493201 CA3310095 |
837 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA3310098 rs757380405 |
838 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA3310099 rs767783636 |
839 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 841 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 843 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 843 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766520992 CA3310121 |
844 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1322055045 CA360154927 |
844 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 845 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1285230226 CA360154947 |
847 | M>T | Variant assessed as Somatic; 4.8e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1376624950 CA360154944 |
847 | M>V | No |
ClinGen gnomAD |
|
|
CA120966384 rs868549581 |
849 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA120966395 rs879132322 |
850 | Y>C | No |
ClinGen gnomAD |
|
|
rs758348890 CA3310124 |
850 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs565736013 CA3310125 |
858 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs751509556 CA360155032 |
859 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757070223 CA3310127 |
860 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA120966430 rs1006205943 |
860 | N>S | No |
ClinGen Ensembl |
|
|
CA3310128 rs780890940 |
863 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA3310129 rs745512881 |
863 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769457645 CA360155063 |
864 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769457645 CA3310130 |
864 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3310131 rs779496946 |
866 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA360155079 rs1300921658 |
867 | I>T | No |
ClinGen TOPMed |
|
|
CA3310132 rs748800277 |
867 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA120966468 rs1027331825 |
869 | F>Y | No |
ClinGen TOPMed |
No associated diseases with Q9UBT6
5 regional properties for Q9UBT6
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | UmuC domain | 103 - 358 | IPR001126 |
| domain | Rad18, zinc finger UBZ4-type | 621 - 651 | IPR006642-1 |
| domain | Rad18, zinc finger UBZ4-type | 776 - 806 | IPR006642-2 |
| domain | DNA polymerase, Y-family, little finger domain | 413 - 527 | IPR017961 |
| conserved_site | DNA polymerase type-Y, HhH motif | 340 - 370 | IPR024728 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.7.7 | Nucleotidyltransferases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| nuclear body | Extra-nucleolar nuclear domains usually visualized by confocal microscopy and fluorescent antibodies to specific proteins. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| damaged DNA binding | Binding to damaged DNA. |
| DNA-directed DNA polymerase activity | Catalysis of the reaction: deoxynucleoside triphosphate + DNA(n) = diphosphate + DNA(n+1); the synthesis of DNA from deoxyribonucleotide triphosphates in the presence of a DNA template and a 3'hydroxyl group. |
| metal ion binding | Binding to a metal ion. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to DNA damage stimulus | 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 indicating damage to its DNA from environmental insults or errors during metabolism. |
| cellular response to UV | 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 an ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers. |
| DNA repair | The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway. |
| DNA replication | The cellular metabolic process in which a cell duplicates one or more molecules of DNA. DNA replication begins when specific sequences, known as origins of replication, are recognized and bound by initiation proteins, and ends when the original DNA molecule has been completely duplicated and the copies topologically separated. The unit of replication usually corresponds to the genome of the cell, an organelle, or a virus. The template for replication can either be an existing DNA molecule or RNA. |
| error-prone translesion synthesis | The conversion of DNA-damage induced single-stranded gaps into large molecular weight DNA after replication by using a specialized DNA polymerase or replication complex to insert a defined nucleotide across the lesion. This process does not remove the replication-blocking lesions and causes an increase in the endogenous mutation level. For example, in E. coli, a low fidelity DNA polymerase, pol V, copies lesions that block replication fork progress. This produces mutations specifically targeted to DNA template damage sites, but it can also produce mutations at undamaged sites. |
| nucleotide-excision repair, DNA gap filling | Repair of the gap in the DNA helix by DNA polymerase and DNA ligase after the portion of the strand containing the lesion has been removed by pyrimidine-dimer repair enzymes. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q47155 | dinB | DNA polymerase IV | Escherichia coli (strain K12) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDSTKEKCDS | YKDDLLLRMG | LNDNKAGMEG | LDKEKINKII | MEATKGSRFY | GNELKKEKQV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| NQRIENMMQQ | KAQITSQQLR | KAQLQVDRFA | MELEQSRNLS | NTIVHIDMDA | FYAAVEMRDN |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PELKDKPIAV | GSMSMLSTSN | YHARRFGVRA | AMPGFIAKRL | CPQLIIVPPN | FDKYRAVSKE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VKEILADYDP | NFMAMSLDEA | YLNITKHLEE | RQNWPEDKRR | YFIKMGSSVE | NDNPGKEVNK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LSEHERSISP | LLFEESPSDV | QPPGDPFQVN | FEEQNNPQIL | QNSVVFGTSA | QEVVKEIRFR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| IEQKTTLTAS | AGIAPNTMLA | KVCSDKNKPN | GQYQILPNRQ | AVMDFIKDLP | IRKVSGIGKV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TEKMLKALGI | ITCTELYQQR | ALLSLLFSET | SWHYFLHISL | GLGSTHLTRD | GERKSMSVER |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TFSEINKAEE | QYSLCQELCS | ELAQDLQKER | LKGRTVTIKL | KNVNFEVKTR | ASTVSSVVST |
| 490 | 500 | 510 | 520 | 530 | 540 |
| AEEIFAIAKE | LLKTEIDADF | PHPLRLRLMG | VRISSFPNEE | DRKHQQRSII | GFLQAGNQAL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SATECTLEKT | DKDKFVKPLE | MSHKKSFFDK | KRSERKWSHQ | DTFKCEAVNK | QSFQTSQPFQ |
| 610 | 620 | 630 | 640 | 650 | 660 |
| VLKKKMNENL | EISENSDDCQ | ILTCPVCFRA | QGCISLEALN | KHVDECLDGP | SISENFKMFS |
| 670 | 680 | 690 | 700 | 710 | 720 |
| CSHVSATKVN | KKENVPASSL | CEKQDYEAHP | KIKEISSVDC | IALVDTIDNS | SKAESIDALS |
| 730 | 740 | 750 | 760 | 770 | 780 |
| NKHSKEECSS | LPSKSFNIEH | CHQNSSSTVS | LENEDVGSFR | QEYRQPYLCE | VKTGQALVCP |
| 790 | 800 | 810 | 820 | 830 | 840 |
| VCNVEQKTSD | LTLFNVHVDV | CLNKSFIQEL | RKDKFNPVNQ | PKESSRSTGS | SSGVQKAVTR |
| 850 | 860 | ||||
| TKRPGLMTKY | STSKKIKPNN | PKHTLDIFFK |