Q8IXQ6
PR
Gene name |
PARP9 |
Protein name |
Protein mono-ADP-ribosyltransferase PARP9 |
Names |
ADP-ribosyltransferase diphtheria toxin-like 9, ARTD9, B aggressive lymphoma protein, Poly [ADP-ribose] polymerase 9, PARP-9 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:83666 |
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 Q8IXQ6
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 5AIL | X-ray | 155 A | A/B | 310-493 | PDB |
| AF-Q8IXQ6-F1 | Predicted | AlphaFoldDB |
655 variants for Q8IXQ6
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1287082484 CA354197458 COSM1219324 |
2 | D>E | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs747986779 CA2571693 |
3 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1223603624 CA354197451 |
3 | F>V | No |
ClinGen gnomAD |
|
|
rs141826346 CA2571692 |
5 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA82807381 rs1006520522 |
5 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs368829651 CA2571665 |
7 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1203857761 CA354196478 |
8 | G>E | No |
ClinGen gnomAD |
|
|
rs565162400 CA2571663 |
8 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2571662 rs79082034 |
9 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 10 | A>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354196426 rs141037421 |
11 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2571660 rs141037421 |
11 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753252883 CA2571659 |
12 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 13 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2571658 rs201032752 |
13 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759643760 CA354196353 |
15 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1363525235 CA354196311 |
18 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA354196300 rs1297352830 |
19 | I>L | No |
ClinGen gnomAD |
|
|
CA2571656 rs375674224 |
20 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2571654 VAR_056654 rs34006803 |
21 | S>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs766635126 CA2571655 |
21 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA2571653 rs774189085 |
22 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs762938495 CA2571651 |
23 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA2571650 rs370029194 |
24 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs752455116 CA2571648 |
26 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA82806241 rs892171281 |
26 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA354196156 rs745387273 |
29 | V>I | No |
ClinGen ExAC |
|
|
CA2571647 rs745387273 |
29 | V>L | No |
ClinGen ExAC |
|
|
CA354196143 rs1180771715 |
31 | A>P | No |
ClinGen gnomAD |
|
|
CA354196141 rs1180771715 |
31 | A>S | No |
ClinGen gnomAD |
|
|
CA354196135 rs1480697469 |
32 | Q>* | No |
ClinGen gnomAD |
|
|
CA354196131 rs1275946480 |
32 | Q>H | No |
ClinGen gnomAD |
|
|
CA354196137 rs1480697469 |
32 | Q>K | No |
ClinGen gnomAD |
|
|
rs766590014 CA82806229 |
33 | I>V | No |
ClinGen Ensembl |
|
|
rs932570276 CA82806223 |
35 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1274885759 CA354196108 |
36 | Q>* | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 36 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780908814 CA2571645 |
36 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA82806213 rs372339066 |
37 | W>* | No |
ClinGen ESP |
|
|
rs919858391 CA82806218 |
37 | W>R | No |
ClinGen Ensembl |
|
|
rs770614334 CA2571644 |
38 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA2571643 rs746680982 |
39 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1038201687 CA82806188 |
39 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA354196080 rs746680982 |
39 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1045707284 CA82806171 |
41 | N>S | No |
ClinGen TOPMed |
|
|
rs1382431683 CA354196020 |
43 | E>G | No |
ClinGen TOPMed |
|
|
rs1435090047 CA354196030 |
43 | E>K | No |
ClinGen gnomAD |
|
|
rs1402410797 CA354195985 |
45 | C>W | No |
ClinGen TOPMed |
|
|
rs1351131627 CA354195993 |
45 | C>Y | No |
ClinGen gnomAD |
|
|
CA2571640 rs753162802 |
46 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354195982 rs753162802 |
46 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2571639 rs779395209 |
47 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA2571637 rs753898739 |
48 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs939880926 CA82806117 |
49 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1435459616 CA354194269 |
55 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA354194253 rs1265631125 |
56 | L>F | No |
ClinGen gnomAD |
|
|
rs1293735673 CA354194242 |
57 | G>* | No |
ClinGen TOPMed |
|
|
CA82804227 rs139103040 |
58 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA354194232 rs139103040 |
58 | E>Q | No |
ClinGen gnomAD |
|
|
CA2571602 rs767649314 |
59 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1206869795 CA354194161 |
60 | Y>C | No |
ClinGen gnomAD |
|
|
CA354194174 rs1559872310 |
60 | Y>H | No |
ClinGen Ensembl |
|
|
CA354194081 rs1328642403 |
64 | I>F | No |
ClinGen gnomAD |
|
|
rs1490444070 CA354194058 |
65 | P>H | No |
ClinGen TOPMed |
|
|
rs199647088 CA2571601 |
66 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA82804216 rs886682574 |
68 | H>P | No |
ClinGen TOPMed |
|
|
rs886682574 CA354194008 |
68 | H>R | No |
ClinGen TOPMed |
|
|
CA354193983 rs1559872089 |
69 | N>K | No |
ClinGen Ensembl |
|
|
CA2571600 rs542919548 |
69 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1390374425 CA354193937 |
72 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs368442005 CA354193928 |
73 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368442005 CA2571599 |
73 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM581013 rs1456226315 CA354193910 |
74 | L>F | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA2571596 rs760107420 |
77 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776455602 CA2571597 |
77 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA2571598 rs759523996 |
77 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA82804131 rs886265668 |
78 | E>D | No |
ClinGen TOPMed |
|
|
CA354193859 rs1376497797 |
78 | E>K | No |
ClinGen gnomAD |
|
|
CA354193861 rs1376497797 |
78 | E>Q | No |
ClinGen gnomAD |
|
|
rs772861803 CA2571594 COSM169634 |
79 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs772861803 CA354193845 |
79 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771698371 CA2571593 |
79 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354193846 rs772861803 |
79 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs907401048 CA82804124 |
80 | Q>* | No |
ClinGen TOPMed |
|
|
rs1576435292 CA354193828 |
80 | Q>P | No |
ClinGen Ensembl |
|
|
rs747860839 CA2571592 |
83 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1316714662 CA354193775 |
84 | V>A | No |
ClinGen TOPMed |
|
|
rs774663946 CA2571591 |
84 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146677229 CA2571588 |
86 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2571589 rs200920578 |
86 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2571585 rs781491498 |
87 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781491498 CA2571586 |
87 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs563314388 CA354193705 |
89 | F>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs563314388 CA2571583 |
89 | F>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2571582 rs765075961 |
90 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs369670658 CA354193681 |
91 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369670658 CA2571581 |
91 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 92 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354193650 rs1423311055 |
93 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs112278012 CA82804015 |
94 | T>A | No |
ClinGen Ensembl |
|
|
rs1335610903 CA354193603 |
97 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA354193584 rs1412331117 |
99 | V>A | No |
ClinGen gnomAD |
|
|
CA82803985 rs923814778 |
100 | Q>E | No |
ClinGen Ensembl |
|
|
CA2571578 rs760720869 |
102 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA2571576 rs200722933 |
104 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761430094 CA2571575 |
106 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA82803890 rs769327187 |
107 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1464021720 CA354193471 |
108 | Q>* | No |
ClinGen TOPMed |
|
|
CA354193455 rs1440805816 |
109 | V>M | No |
ClinGen gnomAD |
|
|
rs139882806 CA2571573 |
111 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs71329279 CA82803875 |
111 | R>K | No |
ClinGen Ensembl |
|
| TCGA novel | 114 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354193342 rs1272146378 |
115 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 117 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2571571 rs577696389 |
118 | I>L | No |
ClinGen 1000Genomes ExAC |
|
|
CA82803825 rs975004326 |
118 | I>T | No |
ClinGen gnomAD |
|
|
rs1356612633 CA354193269 |
119 | E>* | No |
ClinGen gnomAD |
|
|
CA354193253 rs1285636116 |
120 | L>V | No |
ClinGen gnomAD |
|
|
rs1383082675 CA354193180 |
123 | W>C | No |
ClinGen TOPMed |
|
|
rs771156513 CA2571568 |
125 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1410905631 CA354193134 |
126 | D>N | No |
ClinGen gnomAD |
|
|
rs1372960049 CA354193104 |
127 | L>H | No |
ClinGen gnomAD |
|
|
rs1372960049 CA354193093 |
127 | L>R | No |
ClinGen gnomAD |
|
|
CA354193090 rs1576434739 |
128 | T>P | No |
ClinGen Ensembl |
|
|
CA354193078 rs1295160256 |
128 | T>S | No |
ClinGen TOPMed |
|
|
rs747194604 CA2571566 |
129 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA2571565 rs778145159 |
130 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354193051 rs1287476388 COSM94935 |
130 | H>N | prostate [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA354193022 rs1414757155 |
131 | A>T | No |
ClinGen gnomAD |
|
|
rs1417201940 CA354192956 |
133 | D>E | No |
ClinGen gnomAD |
|
|
CA2571563 rs753559187 |
140 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1483989284 CA354192775 |
141 | E>K | No |
ClinGen gnomAD |
|
|
CA354192749 rs1482200056 |
142 | D>A | No |
ClinGen TOPMed |
|
|
rs1576434585 CA354192738 |
142 | D>E | No |
ClinGen Ensembl |
|
|
CA354192705 rs1249617598 |
144 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1452016368 CA354192629 |
148 | G>A | No |
ClinGen gnomAD |
|
|
rs1016458452 CA82803787 |
148 | G>S | No |
ClinGen Ensembl |
|
|
rs1559870171 CA354192619 |
149 | L>P | No |
ClinGen Ensembl |
|
|
rs1016979515 CA82803783 |
149 | L>V | No |
ClinGen TOPMed |
|
|
rs144001822 CA82803782 |
150 | A>V | No |
ClinGen ESP TOPMed |
|
|
rs755970906 CA2571560 |
153 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA354192560 rs1288364847 |
154 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2571558 rs750420645 |
163 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs761340447 CA2571556 |
166 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA354192254 rs1377570912 |
166 | K>N | No |
ClinGen TOPMed |
|
|
rs751158784 CA2571555 |
167 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354192185 rs1229874035 |
169 | V>I | No |
ClinGen gnomAD |
|
|
rs1178011441 CA354192160 |
170 | A>V | No |
ClinGen TOPMed |
|
|
CA2571552 rs775689583 |
173 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1406117591 CA354192010 |
176 | S>P | No |
ClinGen TOPMed |
|
|
CA354191956 rs1478334042 |
179 | E>K | No |
ClinGen gnomAD |
|
|
rs770244086 CA2571551 |
180 | I>R | No |
ClinGen ExAC |
|
|
rs1379613777 CA354191895 |
181 | A>G | No |
ClinGen gnomAD |
|
|
rs1248173257 CA354191860 |
182 | V>D | No |
ClinGen gnomAD |
|
|
rs201111940 CA2571549 |
183 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs772431628 CA2571548 |
186 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747098190 CA2571546 |
189 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2571547 rs771068546 |
189 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA354191677 rs1305698879 |
191 | K>* | No |
ClinGen gnomAD |
|
|
CA354191675 rs1576434136 |
191 | K>R | No |
ClinGen Ensembl |
|
|
rs778055276 CA2571545 |
192 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1362574323 CA354191617 |
194 | I>V | No |
ClinGen gnomAD |
|
|
rs1276962389 CA354191561 |
196 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs772179302 CA354191529 |
197 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs772179302 CA2571544 |
197 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs371051050 CA82803634 |
198 | G>R | No |
ClinGen ESP |
|
|
CA354191491 rs1265132302 |
199 | P>A | No |
ClinGen TOPMed |
|
|
rs746173257 CA2571542 |
200 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2571543 rs368389656 |
200 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750317331 CA2571540 |
205 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1013542068 CA82803577 |
208 | G>* | No |
ClinGen Ensembl |
|
|
CA2571539 rs781108654 |
210 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1414916808 CA354191152 |
211 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA354191142 rs1486939941 |
212 | K>* | No |
ClinGen TOPMed |
|
|
CA354191015 rs1187477157 |
215 | R>K | No |
ClinGen TOPMed |
|
|
rs1576433893 CA354190873 |
220 | I>T | No |
ClinGen Ensembl |
|
|
CA2571538 rs757246706 |
224 | V>F | No |
ClinGen ExAC TOPMed |
|
|
rs144621578 CA2571537 |
225 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1202204342 CA354190756 |
226 | Y>C | No |
ClinGen TOPMed |
|
|
rs1429432455 CA354190703 |
228 | N>Y | No |
ClinGen TOPMed |
|
|
CA82803564 rs555573377 |
229 | T>A | No |
ClinGen 1000Genomes |
|
|
CA354190671 rs1456232518 |
229 | T>N | No |
ClinGen TOPMed |
|
|
rs1156239553 CA354190648 |
231 | I>V | No |
ClinGen TOPMed |
|
|
CA354190595 rs763704671 |
232 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA354190604 rs1189241689 |
232 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA354190546 rs1248235095 |
234 | V>G | No |
ClinGen gnomAD |
|
|
rs757965558 CA2571535 |
234 | V>I | No |
ClinGen ExAC |
|
|
rs752416573 CA2571534 |
239 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1167523728 CA354190400 |
242 | G>E | No |
ClinGen gnomAD |
|
|
rs1453960512 CA354190403 |
242 | G>R | No |
ClinGen TOPMed |
|
|
rs1463292483 CA354190311 |
247 | P>S | No |
ClinGen gnomAD |
|
|
rs1054956010 CA82803538 |
249 | N>H | No |
ClinGen Ensembl |
|
|
COSM727875 CA2571532 rs759951160 |
251 | C>Y | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA354190224 rs1292749646 |
252 | T>I | No |
ClinGen TOPMed |
|
|
CA354190211 rs1313293650 |
253 | K>R | No |
ClinGen gnomAD |
|
|
CA354190170 rs1281401822 |
256 | V>I | No |
ClinGen gnomAD |
|
|
CA354190154 rs1232523408 |
257 | E>Q | No |
ClinGen gnomAD |
|
|
rs777220107 CA354190126 |
259 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777220107 CA2571531 |
259 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2571529 rs201391405 |
260 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370442368 CA2571530 |
260 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773394070 CA2571528 |
261 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1360791235 CA354190028 |
265 | G>E | No |
ClinGen gnomAD |
|
|
rs1227878518 CA354190037 |
265 | G>R | No |
ClinGen TOPMed |
|
|
rs772239184 CA2571527 |
266 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA82803500 rs914232822 |
270 | S>G | No |
ClinGen TOPMed |
|
|
rs372485585 CA2571526 |
270 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354189817 rs1265280867 |
275 | I>V | No |
ClinGen TOPMed |
|
|
CA354189762 rs1170256093 |
277 | L>P | No |
ClinGen gnomAD |
|
|
CA354189753 rs1447221611 |
278 | V>L | No |
ClinGen gnomAD |
|
|
CA354189700 rs1576433418 |
279 | S>I | No |
ClinGen Ensembl |
|
|
rs1181904887 CA354189696 |
279 | S>R | No |
ClinGen gnomAD |
|
|
rs370263352 CA2571523 |
280 | N>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2571520 rs148992327 CA2571521 |
280 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs771406543 CA2571522 |
280 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2571519 rs777099263 |
281 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1270246734 CA354189637 |
282 | D>A | No |
ClinGen TOPMed |
|
|
rs149335017 CA82803415 |
282 | D>E | No |
ClinGen ESP |
|
|
rs1051124300 CA82803410 |
285 | V>L | No |
ClinGen Ensembl |
|
|
rs1275728474 CA354189512 |
288 | F>Y | No |
ClinGen gnomAD |
|
|
rs1231152469 CA354189463 |
290 | A>T | No |
ClinGen gnomAD |
|
|
CA354189399 rs1559867579 |
293 | E>G | No |
ClinGen Ensembl |
|
|
CA2571517 rs150570348 |
294 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354189322 rs1396651952 |
295 | I>M | No |
ClinGen gnomAD |
|
|
CA354189319 rs764958128 |
296 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764958128 CA2571516 |
296 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749770721 CA2571515 |
297 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs754248761 CA2571514 |
299 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 302 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1371100680 CA354189152 |
303 | Q>* | No |
ClinGen gnomAD |
|
|
CA2571512 rs777760905 |
305 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs138410376 CA2571511 |
306 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs191001617 CA2571509 |
310 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs781495227 CA82803298 |
311 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs768920903 CA2571507 |
312 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs200422942 CA82803250 |
314 | V>A | No |
ClinGen ESP gnomAD |
|
|
rs971953959 CA354188928 |
314 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs971953959 CA82803268 |
314 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA354188912 rs1357475514 |
315 | N>S | No |
ClinGen TOPMed |
|
|
rs776393388 CA2571505 |
316 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2571504 rs770735760 |
317 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1576432960 CA354188878 |
318 | T>A | No |
ClinGen Ensembl |
|
|
CA354188858 rs1351001314 |
319 | L>F | No |
ClinGen gnomAD |
|
|
rs971620696 CA82803214 |
320 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA354188800 rs1290194283 |
323 | Q>* | No |
ClinGen gnomAD |
|
|
CA354188796 rs1234153260 |
323 | Q>R | No |
ClinGen TOPMed |
|
|
rs571750292 CA2571503 |
326 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs72960494 CA2571501 |
330 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 331 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354185732 rs1198180416 COSM4152640 |
339 | N>K | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA82796303 rs34328965 |
339 | N>S | No |
ClinGen Ensembl |
|
|
CA354185725 rs1251548517 |
340 | P>T | No |
ClinGen gnomAD |
|
|
CA2571480 rs768302922 |
343 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1286365929 CA354185536 |
344 | T>I | No |
ClinGen gnomAD |
|
|
rs748905478 CA2571479 |
345 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1173570365 CA354185473 |
346 | G>R | No |
ClinGen TOPMed |
|
|
rs779853462 CA2571478 |
348 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA354185357 rs1235110116 |
349 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA2571477 rs756487375 |
351 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs1193925196 CA354185239 |
352 | I>V | No |
ClinGen gnomAD |
|
|
CA82796220 rs778567185 |
355 | Q>K | No |
ClinGen Ensembl |
|
|
rs868139906 CA82796216 |
356 | A>S | No |
ClinGen Ensembl |
|
|
CA354185098 rs1366932345 |
356 | A>V | No |
ClinGen gnomAD |
|
|
CA2571474 rs757763380 |
357 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 359 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3408181 rs376922210 CA2571472 |
362 | S>L | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA354184793 rs1393586336 |
367 | T>A | No |
ClinGen gnomAD |
|
|
CA354184745 rs896536287 |
369 | A>S | No |
ClinGen TOPMed |
|
|
CA82796122 rs896536287 |
369 | A>T | No |
ClinGen TOPMed |
|
|
CA2571468 rs759742845 |
370 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA2571466 rs771811321 |
374 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2571467 rs200278388 |
374 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2571465 rs761760031 |
376 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA354184516 rs1268086981 |
377 | L>F | No |
ClinGen gnomAD |
|
|
rs143390742 CA354184540 |
377 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1559859537 COSM202967 CA354184508 |
378 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA354184484 rs1226269065 |
379 | L>P | No |
ClinGen gnomAD |
|
|
CA2571463 rs768210727 |
382 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354184389 rs1287776146 |
383 | G>E | No |
ClinGen TOPMed |
|
|
rs1303445965 CA354184343 |
385 | N>S | No |
ClinGen gnomAD |
|
|
rs748817592 CA354184307 |
386 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs779765562 CA2571461 |
387 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354184169 rs1559859271 |
391 | I>M | No |
ClinGen Ensembl |
|
|
CA82796034 rs947270073 |
393 | H>R | No |
ClinGen Ensembl |
|
| TCGA novel | 393 | H>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2571459 rs745559139 |
394 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1421891743 CA354184102 |
394 | V>I | No |
ClinGen gnomAD |
|
|
rs781575436 CA2571458 |
396 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA354183978 rs1369060165 |
399 | E>D | No |
ClinGen gnomAD |
|
|
rs1238022132 CA354183972 |
400 | F>V | No |
ClinGen TOPMed |
|
|
rs1274710883 CA354183730 |
405 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 406 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769213282 CA354183712 |
406 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354183668 rs1576423053 |
408 | H>R | No |
ClinGen Ensembl |
|
|
rs1349187216 CA354183658 |
409 | A>T | No |
ClinGen TOPMed |
|
|
CA2571439 rs776157235 |
411 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA354183596 rs1224759157 |
412 | E>D | No |
ClinGen gnomAD |
|
|
CA354183607 rs771270068 |
412 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs771270068 CA2571438 |
412 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1215313546 CA354183592 |
413 | C>R | No |
ClinGen TOPMed |
|
|
CA354183588 rs1376177800 |
413 | C>Y | No |
ClinGen gnomAD |
|
|
CA354183522 rs1258413117 |
417 | C>R | No |
ClinGen TOPMed |
|
|
rs747322912 CA2571437 |
418 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2571436 rs145331099 |
418 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747322912 CA82794523 |
418 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748701904 CA2571434 |
419 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA354183451 rs1576422920 |
420 | Q>* | No |
ClinGen Ensembl |
|
|
rs911942376 COSM326063 CA82794483 |
420 | Q>P | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
| TCGA novel | 421 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354183360 rs1177672575 |
425 | I>V | No |
ClinGen gnomAD |
|
|
rs755044312 CA2571432 |
429 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA82794410 rs140876873 |
430 | L>I | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 431 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1405790480 CA354183212 |
435 | M>L | No |
ClinGen gnomAD |
|
|
rs1395645353 CA354183197 |
436 | E>K | No |
ClinGen TOPMed |
|
|
CA82794397 rs931993466 |
437 | I>M | No |
ClinGen TOPMed |
|
|
CA2571429 rs188965325 |
437 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2571426 rs764033222 |
440 | E>D | No |
ClinGen ExAC |
|
|
CA2571427 rs146564634 RCV000962984 |
440 | E>K | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1576422713 CA354183120 |
441 | T>K | No |
ClinGen Ensembl |
|
| TCGA novel | 442 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762938365 CA2571425 |
442 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1289682956 CA354183084 |
444 | E>G | No |
ClinGen TOPMed |
|
|
rs764742202 CA2571423 |
445 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2571424 rs775603931 |
445 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs758982622 CA2571421 |
448 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 456 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 458 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 459 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1348988611 CA354182863 |
460 | H>P | No |
ClinGen gnomAD |
|
|
rs770486854 CA2571419 |
460 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2571418 rs746705184 |
463 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA2571417 rs773540820 |
463 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs773540820 CA354182821 |
463 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1479803588 CA354182771 |
466 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs967893344 CA82794290 |
467 | V>M | No |
ClinGen TOPMed |
|
|
rs1171534767 CA354182678 |
469 | F>L | No |
ClinGen gnomAD |
|
|
rs1453407433 CA354182660 |
470 | P>R | No |
ClinGen gnomAD |
|
|
CA354182575 rs1318198595 |
474 | E>V | No |
ClinGen TOPMed |
|
|
rs1559853579 CA354182556 |
475 | I>M | No |
ClinGen Ensembl |
|
|
CA2571413 rs768720117 |
476 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1390472551 CA354182549 |
476 | Y>H | No |
ClinGen gnomAD |
|
|
rs779950742 CA2571393 |
478 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA2571392 rs770027215 |
480 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746024234 CA2571391 |
481 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA82789732 rs988399617 |
483 | M>T | No |
ClinGen Ensembl |
|
|
CA354180042 rs1357250181 |
484 | A>T | No |
ClinGen gnomAD |
|
|
rs1445003087 CA354179893 |
488 | K>N | No |
ClinGen gnomAD |
|
|
CA2571390 rs781583051 |
489 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1414115375 CA354179827 |
491 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA354179766 rs1396892729 |
493 | N>K | No |
ClinGen gnomAD |
|
|
rs757611167 CA2571389 |
495 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1460141021 CA354179656 |
497 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1460141021 CA354179660 |
497 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2571347 rs749112191 |
498 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA354177894 rs749112191 |
498 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1014848060 CA82785678 |
503 | E>A | No |
ClinGen Ensembl |
|
|
CA354177795 rs1218850859 |
503 | E>Q | No |
ClinGen gnomAD |
|
|
rs201717401 CA82785672 |
504 | E>G | No |
ClinGen 1000Genomes TOPMed |
|
|
CA2571344 rs749926440 |
505 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2571343 rs767050928 |
505 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs756878826 CA2571342 |
506 | R>G | No |
ClinGen ExAC |
|
|
CA2571340 rs764300255 |
507 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA2571339 rs763390107 |
511 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs775777053 CA2571338 |
512 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA354177551 rs1229019594 |
513 | R>G | No |
ClinGen TOPMed |
|
|
rs765839681 CA2571337 |
514 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1289249662 CA354177506 |
515 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA2571336 rs760164261 |
516 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs28365795 CA2571334 |
517 | I>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs28365795 CA354177476 |
517 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs28365795 VAR_056655 CA2571333 |
517 | I>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1452296001 CA354177440 |
518 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1482909009 CA354177365 |
521 | G>A | No |
ClinGen TOPMed |
|
|
rs151155639 CA2571331 |
523 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142209169 CA2571330 |
524 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs142209169 CA2571329 COSM1037161 |
524 | V>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2571328 rs756012991 |
525 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs147610084 CA2571326 |
527 | M>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs546783947 CA2571327 |
527 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
VAR_056656 rs9851180 CA2571325 |
528 | Y>C | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2571324 rs749727445 |
530 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1280770390 CA354177112 |
531 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA354177092 rs758053332 |
532 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2571322 rs758053332 COSM202966 |
532 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA2571320 rs765749778 |
535 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 536 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 537 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1292827800 CA354177000 |
538 | L>P | No |
ClinGen gnomAD |
|
|
rs1374354528 CA354176984 |
539 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA354176956 rs1309636333 |
541 | Q>R | No |
ClinGen TOPMed |
|
|
rs1372570415 CA354176932 |
542 | N>K | No |
ClinGen TOPMed |
|
|
rs1410651540 CA354176928 |
543 | H>D | No |
ClinGen TOPMed |
|
|
rs1576396614 CA354176909 |
544 | H>L | No |
ClinGen Ensembl |
|
|
rs754430564 CA2571318 |
547 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 548 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376210509 CA2571316 |
550 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2571315 rs143630586 |
551 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354176815 rs1374810831 |
552 | L>P | No |
ClinGen gnomAD |
|
|
rs550738887 CA2571313 |
553 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1420962226 CA354176799 |
554 | L>F | No |
ClinGen gnomAD |
|
|
rs775242178 CA2571312 |
554 | L>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 556 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 556 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354176743 rs1313995592 |
557 | K>M | No |
ClinGen TOPMed |
|
|
rs1277690619 CA354176691 |
560 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA82785443 rs1033628382 |
560 | D>H | No |
ClinGen TOPMed |
|
|
rs1277690619 CA354176685 |
560 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2571309 rs373178768 |
561 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1235424236 CA354176577 |
566 | Q>* | No |
ClinGen TOPMed |
|
|
rs746524677 CA354176567 |
566 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2571306 rs777193127 |
567 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA354176487 rs1294394958 |
570 | S>G | No |
ClinGen gnomAD |
|
|
rs1181961242 CA354176383 |
572 | S>C | No |
ClinGen TOPMed |
|
|
rs374100803 CA2571304 |
573 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779383832 CA2571303 |
573 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs755396528 CA2571302 |
576 | I>M | No |
ClinGen ExAC TOPMed |
|
|
rs1398997825 CA354176158 |
581 | R>G | No |
ClinGen gnomAD |
|
|
rs1170484985 CA354176149 |
581 | R>K | No |
ClinGen TOPMed |
|
|
rs1166194460 CA354176057 |
585 | E>* | No |
ClinGen gnomAD |
|
|
rs1045790196 CA82785373 |
585 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA2571301 rs143155766 RCV001810701 |
586 | I>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs766892446 CA2571300 |
587 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA354175918 rs750484784 |
590 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354175914 rs1182328708 |
590 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA2571298 rs750484784 |
590 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2571297 rs200842294 |
591 | A>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA354175888 rs1226825528 |
592 | D>E | No |
ClinGen TOPMed |
|
|
CA82785353 rs773473749 |
593 | L>F | No |
ClinGen gnomAD |
|
|
rs1300516210 CA354175873 |
593 | L>H | No |
ClinGen TOPMed |
|
|
CA2571296 rs377647340 |
595 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354175743 rs1283972403 |
598 | M>I | No |
ClinGen gnomAD |
|
|
CA354175752 rs1188530613 |
598 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA354175724 rs1443431061 |
599 | N>D | No |
ClinGen gnomAD |
|
|
CA354175711 rs1423504334 |
599 | N>S | No |
ClinGen gnomAD |
|
|
rs776477509 CA2571291 |
600 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759314857 CA2571292 |
600 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 601 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748410591 CA82785299 |
601 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748410591 CA2571289 |
601 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1477545388 CA354175591 |
603 | M>I | No |
ClinGen TOPMed |
|
|
rs777292337 CA2571288 |
603 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2571287 rs771516923 |
606 | K>N | No |
ClinGen ExAC |
|
|
CA2571286 rs747739529 |
609 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA354175322 rs1576395887 |
611 | M>T | No |
ClinGen Ensembl |
|
|
CA2571285 rs377521569 |
612 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1177550612 CA354175249 |
613 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs754731383 CA2571284 |
614 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs150201664 CA2571283 |
614 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2571282 rs780322545 |
616 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA2571281 rs756620968 |
617 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354175137 rs756620968 |
617 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs559272508 CA2571280 |
617 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
| TCGA novel | 620 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757344516 CA2571278 |
621 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2571277 rs751697051 |
621 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs751697051 CA82785229 |
621 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148173395 CA2571275 |
622 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141979601 CA2571276 |
622 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766112814 CA2571273 |
623 | L>S | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 626 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1476672823 CA354172267 |
628 | I>N | No |
ClinGen gnomAD |
|
|
rs1476672823 CA354172266 |
628 | I>T | No |
ClinGen gnomAD |
|
|
CA354172248 rs1261706632 |
629 | Q>* | No |
ClinGen gnomAD |
|
|
CA2571253 rs568665447 |
630 | Q>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA354172173 rs1282916621 |
632 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 633 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354172154 rs1208210810 |
633 | T>S | No |
ClinGen gnomAD |
|
|
CA354172134 rs998545197 |
634 | Q>H | No |
ClinGen Ensembl |
|
|
COSM262745 rs369798989 CA2571250 |
636 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1330403895 CA354172053 |
637 | M>I | No |
ClinGen TOPMed |
|
|
rs1277436433 CA354172021 |
638 | K>N | No |
ClinGen gnomAD |
|
|
rs761877619 CA2571249 |
638 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs111390808 CA2571247 |
641 | I>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs111390808 CA354171958 |
641 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200074797 CA2571248 |
641 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354171941 rs1398827870 |
642 | I>V | No |
ClinGen gnomAD |
|
|
rs748928499 CA2571245 |
643 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs375474400 CA2571244 |
648 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354171778 rs1287901857 |
649 | P>T | No |
ClinGen TOPMed |
|
|
CA2571243 rs140671147 |
650 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2571242 rs6780543 VAR_056657 RCV000973344 |
651 | T>A | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs767559752 CA2571241 |
651 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767559752 CA2571240 |
651 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1193491679 CA354171727 |
652 | Q>* | No |
ClinGen gnomAD |
|
|
rs747540863 CA2571239 |
654 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA354171646 rs1196617512 |
656 | D>G | No |
ClinGen TOPMed |
|
|
rs777795115 CA2571238 |
657 | Q>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 658 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759776584 CA82781461 |
659 | K>E | No |
ClinGen TOPMed |
|
|
rs759776584 CA354171609 |
659 | K>Q | No |
ClinGen TOPMed |
|
|
CA2571237 rs199978169 |
662 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA354171536 rs1472292223 |
664 | C>S | No |
ClinGen TOPMed |
|
|
CA82781445 rs774516594 |
665 | G>S | No |
ClinGen gnomAD |
|
|
rs770900470 CA82781435 |
667 | Q>* | No |
ClinGen Ensembl |
|
|
CA82781432 rs570860607 |
667 | Q>R | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1160943287 CA354171465 |
668 | V>F | No |
ClinGen TOPMed |
|
|
CA82781425 rs1035072971 |
670 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1415378154 CA354171433 |
670 | K>T | No |
ClinGen TOPMed |
|
|
CA2571223 rs537521229 |
671 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs759283033 CA2571222 |
673 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA354171387 rs1214472107 |
674 | I>T | No |
ClinGen gnomAD |
|
|
CA354171377 rs776932998 |
675 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA2571221 rs776932998 |
675 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs771320135 CA2571220 |
676 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs747453851 CA2571219 |
676 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1375065278 CA354170554 |
679 | L>F | No |
ClinGen TOPMed |
|
|
CA2571217 rs772627675 |
680 | M>T | No |
ClinGen ExAC |
|
|
rs778268442 CA2571218 |
680 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA354170510 rs748169003 |
681 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA2571216 rs748169003 |
681 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs201827620 CA354170489 |
682 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2571214 rs201827620 |
682 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201827620 CA2571215 |
682 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754112661 CA2571213 |
683 | F>L | No |
ClinGen ExAC |
|
|
rs1576382767 CA354170459 |
684 | Q>* | No |
ClinGen Ensembl |
|
|
CA2571211 rs781094603 |
684 | Q>L | No |
ClinGen ExAC |
|
|
rs757120653 CA2571210 |
685 | R>I | No |
ClinGen ExAC |
|
|
CA354170380 rs1220025940 |
687 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs752127420 CA2571206 |
689 | M>I | No |
ClinGen ExAC |
|
|
rs762990340 CA2571207 |
689 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs764123617 CA2571208 |
689 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA82780663 rs753195242 |
690 | M>L | No |
ClinGen gnomAD |
|
|
CA354170308 rs753195242 |
690 | M>V | No |
ClinGen gnomAD |
|
|
CA2571205 rs568727341 |
694 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA354170164 rs1235015641 |
695 | H>R | No |
ClinGen TOPMed |
|
|
rs1292247380 CA354170139 |
696 | R>K | No |
ClinGen gnomAD |
|
|
rs1457850309 CA354170081 |
698 | P>A | No |
ClinGen gnomAD |
|
|
CA2571204 rs759074707 |
698 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs771230409 CA2571202 |
700 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA2571201 rs558459007 |
701 | H>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 702 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354169977 rs1194315494 |
702 | R>S | No |
ClinGen gnomAD |
|
|
rs78984601 CA2571200 |
704 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA82780629 rs77625852 |
705 | Q>* | No |
ClinGen Ensembl |
|
|
rs963491877 CA82780627 |
706 | Q>* | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 707 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354169895 rs1265398018 |
707 | V>D | No |
ClinGen gnomAD |
|
|
CA354169868 rs1252899087 |
708 | P>S | No |
ClinGen TOPMed |
|
|
CA2571198 rs748734224 |
709 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA2571199 rs772425862 |
709 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs778806432 CA2571197 |
711 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1576382492 CA354169774 |
711 | F>S | No |
ClinGen Ensembl |
|
|
CA2571195 rs749454132 |
714 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA2571192 rs746771335 |
716 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1178020188 CA354169663 |
716 | C>Y | No |
ClinGen TOPMed |
|
|
rs777762046 CA2571191 |
718 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1255508902 CA354169501 |
722 | R>G | No |
ClinGen TOPMed |
|
|
CA2571190 rs758220719 |
722 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA2571189 rs752712714 |
723 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2571188 rs764588473 |
724 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754533695 CA2571187 |
725 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs983436301 CA82780514 |
725 | S>P | No |
ClinGen TOPMed |
|
|
CA354169346 rs1198330092 |
727 | P>L | No |
ClinGen gnomAD |
|
|
CA354169353 rs1375985529 |
727 | P>T | No |
ClinGen gnomAD |
|
|
rs1196042904 CA354166669 CA354166668 |
729 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs906290415 CA82780481 |
729 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs554390311 CA2571167 |
732 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA354166646 rs375287039 |
733 | G>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375287039 CA2571165 |
733 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354166641 rs1317904528 |
734 | A>T | No |
ClinGen gnomAD |
|
|
CA82774400 rs1018114498 |
738 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs984247960 CA82774397 |
739 | T>I | No |
ClinGen Ensembl |
|
|
CA82774367 rs372401310 |
740 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354166598 rs1220289680 |
740 | K>R | No |
ClinGen TOPMed |
|
|
rs1017914787 CA82774364 |
743 | K>E | No |
ClinGen TOPMed |
|
|
CA354166578 rs1450691074 |
743 | K>R | No |
ClinGen gnomAD |
|
|
rs1333703160 CA354166574 |
744 | N>H | No |
ClinGen gnomAD |
|
|
CA82774356 rs1025370155 |
745 | L>V | No |
ClinGen Ensembl |
|
|
CA82774355 rs993779734 |
746 | A>S | No |
ClinGen Ensembl |
|
|
rs1219265679 CA354166557 |
747 | E>Q | No |
ClinGen TOPMed |
|
|
rs1392181610 CA354166526 |
751 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA354166509 rs1346427249 |
753 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs767706582 CA2571162 |
757 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs762252030 CA354166477 |
758 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA2571161 rs762252030 |
758 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA354166470 rs763605659 |
759 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764657224 CA2571159 |
759 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375530569 CA2571157 |
760 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1421225665 CA354166440 |
764 | A>T | No |
ClinGen TOPMed |
|
|
rs770025066 CA2571156 |
765 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1273576727 COSM445416 CA354166434 |
765 | E>K | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1159027174 CA354166419 |
767 | L>F | No |
ClinGen TOPMed |
|
|
CA2571155 rs746022129 |
768 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA354166411 rs1457691931 |
768 | T>I | No |
ClinGen gnomAD |
|
|
rs1291156475 CA354166406 |
769 | G>A | No |
ClinGen gnomAD |
|
|
rs1354603516 CA354166398 |
770 | F>L | No |
ClinGen gnomAD |
|
|
CA2571154 rs776928668 |
770 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs771120631 CA2571153 |
773 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA2571151 rs778616434 |
773 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA2571152 rs145344283 |
773 | Q>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA354166371 rs1329366724 |
774 | G>A | No |
ClinGen gnomAD |
|
|
rs1404968700 CA354166376 |
774 | G>R | No |
ClinGen TOPMed |
|
|
rs200183670 CA2571150 |
775 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140303946 CA2571148 |
776 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2571149 rs749244439 |
776 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2571146 rs749985920 |
777 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs780885006 CA2571145 |
778 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2571144 rs372529402 |
780 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354166335 rs372529402 |
780 | V>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1242720821 CA354166338 |
780 | V>L | No |
ClinGen TOPMed |
|
|
CA2571143 rs147481687 |
781 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA354166324 rs1247949758 |
782 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA354166322 rs1450448983 |
783 | P>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 783 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs149670899 CA2571141 |
784 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2571138 rs765353826 |
786 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354166294 rs1239737751 |
788 | A>T | No |
ClinGen gnomAD |
|
|
rs1173582381 CA354166283 |
789 | I>T | No |
ClinGen gnomAD |
|
|
CA354166287 rs1402926061 |
789 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 792 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354166254 rs1276704526 |
793 | D>E | No |
ClinGen gnomAD |
|
|
CA82774155 rs1046984425 |
793 | D>G | No |
ClinGen TOPMed |
|
|
CA2571137 rs759677427 |
796 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1330489759 CA354166229 |
797 | D>G | No |
ClinGen gnomAD |
|
|
rs776646752 CA2571136 |
798 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA354166208 rs1421237172 |
800 | S>C | No |
ClinGen gnomAD |
|
|
rs1367647704 CA354166201 |
801 | S>I | No |
ClinGen TOPMed |
|
|
CA354166196 COSM84819 rs1471728572 |
802 | P>S | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA2571135 rs771157711 |
804 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs867072432 CA82774127 |
808 | F>Y | No |
ClinGen Ensembl |
|
|
rs760852443 CA2571134 |
810 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 810 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354166130 rs1426644343 |
811 | M>I | No |
ClinGen gnomAD |
|
|
CA354166116 rs1161669410 |
813 | A>V | No |
ClinGen TOPMed |
|
|
rs768468128 CA2571132 |
817 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA2571130 rs558592786 |
820 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA354166066 rs1195067670 |
820 | T>I | No |
ClinGen gnomAD |
|
|
rs769779204 CA2571129 |
821 | C>F | No |
ClinGen ExAC |
|
|
rs1284329587 CA354166040 |
823 | Q>* | No |
ClinGen gnomAD |
|
|
rs780606669 CA2571127 |
824 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA2571126 rs756885652 |
825 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA354165949 rs1217592062 |
828 | S>P | No |
ClinGen gnomAD |
|
|
CA82774069 rs936717644 |
829 | Q>* | No |
ClinGen Ensembl |
|
|
rs139596846 RCV001813015 CA2571124 |
830 | D>E | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA354165912 rs1461971770 |
830 | D>G | No |
ClinGen TOPMed |
|
|
CA2571123 RCV001812460 rs151012219 |
831 | Y>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2571121 rs765837687 |
834 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs933301508 CA82774047 |
835 | P>Q | No |
ClinGen Ensembl |
|
|
rs1360583199 CA354165807 |
836 | M>T | No |
ClinGen gnomAD |
|
| TCGA novel | 837 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs923306184 CA82774041 |
839 | F>S | No |
ClinGen Ensembl |
|
| TCGA novel | 841 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1234969973 CA354165713 |
842 | H>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 845 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1559788994 CA354165685 |
846 | G>R | No |
ClinGen Ensembl |
|
|
CA2571119 rs547793960 |
847 | F>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA354165672 rs760906815 |
848 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354165671 rs760906815 |
848 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2571117 rs760906815 |
848 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA82774017 rs1047013487 |
848 | A>V | No |
ClinGen TOPMed |
|
|
rs1255628232 CA354165664 |
849 | S>T | No |
ClinGen TOPMed |
|
|
rs1576364897 CA354165647 |
851 | S>R | No |
ClinGen Ensembl |
|
|
CA354165646 rs1261466540 |
852 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs773308580 CA2571115 |
854 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
1 associated diseases with Q8IXQ6
Without disease ID
3 regional properties for Q8IXQ6
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Macro domain | 107 - 296 | IPR002589-1 |
| domain | Macro domain | 306 - 487 | IPR002589-2 |
| domain | Poly(ADP-ribose) polymerase, catalytic domain | 628 - 850 | IPR012317 |
Functions
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
| 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. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
| site of DNA damage | A region of a chromosome at which DNA damage has occurred. DNA damage signaling and repair proteins accumulate at the lesion to respond to the damage and repair the DNA to form a continuous DNA helix. |
10 GO annotations of molecular function
| Name | Definition |
|---|---|
| ADP-D-ribose binding | Binding to ADP-D-ribose, an ADP-aldose having ribose as the aldose fragment. |
| enzyme binding | Binding to an enzyme, a protein with catalytic activity. |
| enzyme inhibitor activity | Binds to and stops, prevents or reduces the activity of an enzyme. |
| histone binding | Binding to a histone, any of a group of water-soluble proteins found in association with the DNA of eukaryotic or archaeal chromosomes. They are involved in the condensation and coiling of chromosomes during cell division and have also been implicated in gene regulation and DNA replication. They may be chemically modified (methylated, acetlyated and others) to regulate gene transcription. |
| NAD+ ADP-ribosyltransferase activity | Catalysis of the reaction: NAD+ + (ADP-D-ribosyl)(n)-acceptor = nicotinamide + (ADP-D-ribosyl)(n+1)-acceptor. |
| NAD+-protein ADP-ribosyltransferase activity | Catalysis of the reaction: amino acyl- + NAD+ = H+ + (ADP-D-ribosyl)-amino acyl- |
| NAD+-protein-C-terminal glycine ADP-ribosyltransferase activity | Catalysis of the reaction: -C-terminal glycine + NAD(+) = -C-terminal O-(ADP-D-ribosyl)-glycine + nicotinamide. |
| STAT family protein binding | Binding to a member of the signal transducers and activators of transcription (STAT) protein family. STATs are, as the name indicates, both signal transducers and transcription factors. STATs are activated by cytokines and some growth factors and thus control important biological processes including cell growth, cell differentiation, apoptosis and immune responses. |
| transcription corepressor activity | A transcription coregulator activity that represses or decreases the transcription of specific gene sets via binding to a DNA-bound DNA-binding transcription factor, either on its own or as part of a complex. Corepressors often act by altering chromatin structure and modifications. For example, one class of transcription corepressors modifies chromatin structure through covalent modification of histones. A second class remodels the conformation of chromatin in an ATP-dependent fashion. A third class modulates interactions of DNA-bound DNA-binding transcription factors with other transcription coregulators. |
| ubiquitin-like protein ligase binding | Binding to a ubiquitin-like protein ligase, such as ubiquitin-ligase. |
20 GO annotations of biological process
| Name | Definition |
|---|---|
| cell migration | The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms. |
| defense response to virus | Reactions triggered in response to the presence of a virus that act to protect the cell or organism. |
| double-strand break repair | The repair of double-strand breaks in DNA via homologous and nonhomologous mechanisms to reform a continuous DNA helix. |
| innate immune response | Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens. |
| NAD biosynthesis via nicotinamide riboside salvage pathway | The chemical reactions and pathways resulting in the formation of nicotinamide adenine dinucleotide (NAD) from the vitamin precursor nicotinamide riboside. |
| negative regulation of catalytic activity | Any process that stops or reduces the activity of an enzyme. |
| negative regulation of gene expression | Any process that decreases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| negative regulation of transcription by RNA polymerase II | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| positive regulation of chromatin binding | Any process that increases the frequency, rate or extent of chromatin binding. Chromatin binding is the selective interaction with chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase. |
| positive regulation of defense response to virus by host | Any host process that results in the promotion of antiviral immune response mechanisms, thereby limiting viral replication. |
| positive regulation of DNA-templated transcription | Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. |
| positive regulation of double-strand break repair via nonhomologous end joining | Any process that activates or increases the frequency, rate or extent of double-strand break repair via nonhomologous end joining. |
| positive regulation of interferon-gamma-mediated signaling pathway | Any process that increases the rate, frequency or extent of an interferon-gamma-mediated signaling pathway. |
| positive regulation of protein localization to nucleus | Any process that activates or increases the frequency, rate or extent of protein localization to nucleus. |
| positive regulation of tyrosine phosphorylation of STAT protein | Any process that activates or increases the frequency, rate or extent of the introduction of a phosphate group to a tyrosine residue of a STAT (Signal Transducer and Activator of Transcription) protein. |
| post-transcriptional regulation of gene expression | Any process that modulates the frequency, rate or extent of gene expression after the production of an RNA transcript. |
| protein ADP-ribosylation | The transfer, from NAD, of ADP-ribose to protein amino acids. |
| protein mono-ADP-ribosylation | The transfer, from NAD, of a single (mono) ADP-ribose molecule to protein amino acids. |
| regulation of response to interferon-gamma | Any process that modulates the rate, frequency or extent of a response to interferon-gamma. Response to interferon gamma is a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interferon-gamma stimulus. |
| viral protein processing | Any protein maturation process achieved by the cleavage of a peptide bond or bonds within a viral protein. |
3 homologous proteins in AiPD
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDFSMVAGAA | AYNEKSGRIT | SLSLLFQKVF | AQIFPQWRKG | NTEECLPYKC | SETGALGENY |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SWQIPINHND | FKILKNNERQ | LCEVLQNKFG | CISTLVSPVQ | EGNSKSLQVF | RKMLTPRIEL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SVWKDDLTTH | AVDAVVNAAN | EDLLHGGGLA | LALVKAGGFE | IQEESKQFVA | RYGKVSAGEI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| AVTGAGRLPC | KQIIHAVGPR | WMEWDKQGCT | GKLQRAIVSI | LNYVIYKNTH | IKTVAIPALS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SGIFQFPLNL | CTKTIVETIR | VSLQGKPMMS | NLKEIHLVSN | EDPTVAAFKA | ASEFILGKSE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LGQETTPSFN | AMVVNNLTLQ | IVQGHIEWQT | ADVIVNSVNP | HDITVGPVAK | SILQQAGVEM |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KSEFLATKAK | QFQRSQLVLV | TKGFNLFCKY | IYHVLWHSEF | PKPQILKHAM | KECLEKCIEQ |
| 430 | 440 | 450 | 460 | 470 | 480 |
| NITSISFPAL | GTGNMEIKKE | TAAEILFDEV | LTFAKDHVKH | QLTVKFVIFP | TDLEIYKAFS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SEMAKRSKML | SLNNYSVPQS | TREEKRENGL | EARSPAINLM | GFNVEEMYEA | HAWIQRILSL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| QNHHIIENNH | ILYLGRKEHD | ILSQLQKTSS | VSITEIISPG | RTELEIEGAR | ADLIEVVMNI |
| 610 | 620 | 630 | 640 | 650 | 660 |
| EDMLCKVQEE | MARKKERGLW | RSLGQWTIQQ | QKTQDEMKEN | IIFLKCPVPP | TQELLDQKKQ |
| 670 | 680 | 690 | 700 | 710 | 720 |
| FEKCGLQVLK | VEKIDNEVLM | AAFQRKKKMM | EEKLHRQPVS | HRLFQQVPYQ | FCNVVCRVGF |
| 730 | 740 | 750 | 760 | 770 | 780 |
| QRMYSTPCDP | KYGAGIYFTK | NLKNLAEKAK | KISAADKLIY | VFEAEVLTGF | FCQGHPLNIV |
| 790 | 800 | 810 | 820 | 830 | 840 |
| PPPLSPGAID | GHDSVVDNVS | SPETFVIFSG | MQAIPQYLWT | CTQEYVQSQD | YSSGPMRPFA |
| 850 | |||||
| QHPWRGFASG | SPVD |