Q93075
PR
Gene name |
TATDN2 (KIAA0218) |
Protein name |
Putative deoxyribonuclease TATDN2 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9797 |
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
1 structures for Q93075
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q93075-F1 | Predicted | AlphaFoldDB |
659 variants for Q93075
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
| TCGA novel | 2 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765010479 CA2251687 |
2 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1318568052 CA351771514 |
8 | V>I | No |
ClinGen gnomAD |
|
|
rs1200430799 CA351771560 |
11 | N>K | No |
ClinGen gnomAD |
|
|
CA351771574 rs1234731784 |
12 | W>C | No |
ClinGen gnomAD |
|
|
CA70063678 rs745649767 |
12 | W>G | No |
ClinGen Ensembl |
|
|
rs751425421 CA2251691 |
14 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1189856876 CA351771592 |
14 | S>N | No |
ClinGen gnomAD |
|
|
rs754960377 CA2251692 |
14 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351771608 rs1425026217 |
15 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs951912569 CA70063690 |
16 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs780918628 CA2251693 |
18 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs747970348 CA2251694 |
18 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA351771642 rs1576000630 |
19 | C>G | No |
ClinGen Ensembl |
|
|
rs368925531 CA70063695 |
19 | C>Y | No |
ClinGen ESP gnomAD |
|
|
rs1173444692 CA351771652 |
20 | P>A | No |
ClinGen gnomAD |
|
|
rs908367732 CA351771664 |
21 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA70063697 rs908367732 |
21 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs147486673 CA2251697 |
21 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2251698 rs770911890 |
22 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA2251700 rs148376271 |
23 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA70063716 rs867373723 |
23 | R>S | No |
ClinGen Ensembl |
|
|
rs1340882948 CA351771691 |
24 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA2251701 rs772726630 |
24 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1014599024 CA70063739 |
25 | C>S | No |
ClinGen TOPMed |
|
|
rs965702731 CA70063747 |
25 | C>W | No |
ClinGen Ensembl |
|
|
CA70063737 rs1014599024 |
25 | C>Y | No |
ClinGen TOPMed |
|
|
CA2251702 rs775955627 |
26 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764884533 CA2251704 |
27 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369729618 CA2251703 |
27 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772722065 CA2251705 |
28 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA70063784 rs921886741 |
29 | P>L | No |
ClinGen Ensembl |
|
|
rs1351626483 CA351771739 |
30 | C>R | No |
ClinGen Ensembl |
|
|
rs1194298306 CA351771750 |
31 | D>G | No |
ClinGen TOPMed |
|
|
CA351771747 rs1191756904 |
31 | D>H | No |
ClinGen gnomAD |
|
|
CA351771765 rs1194298306 |
31 | D>V | No |
ClinGen TOPMed |
|
|
rs1191756904 CA351771748 |
31 | D>Y | No |
ClinGen gnomAD |
|
|
rs765787784 CA2251708 |
33 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751106344 CA351771788 |
34 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754873056 CA2251710 |
34 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs751106344 CA2251709 |
34 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs752433116 CA2251712 |
35 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs142864918 CA2251713 |
35 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA70063793 rs953317829 |
36 | S>C | No |
ClinGen Ensembl |
|
|
rs1417541700 CA351771817 |
37 | R>G | No |
ClinGen gnomAD |
|
|
CA351771821 rs1297195202 |
37 | R>Q | No |
ClinGen gnomAD |
|
|
rs1401550212 CA351771834 |
38 | P>R | No |
ClinGen gnomAD |
|
|
CA351771838 rs1378294989 |
39 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 41 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1361668217 CA351771872 |
41 | R>M | No |
ClinGen gnomAD |
|
|
rs757547001 CA2251716 |
41 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA2251717 rs535893747 |
44 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA351771916 rs1285495924 |
45 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1285495924 CA351771919 |
45 | R>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 49 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1218328494 CA351771957 |
49 | P>R | No |
ClinGen gnomAD |
|
|
CA2251718 rs745973890 |
49 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 50 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1236267740 CA351771967 |
50 | S>N | No |
ClinGen gnomAD |
|
|
CA351771983 rs1559457933 |
51 | S>I | No |
ClinGen Ensembl |
|
|
rs772638799 CA2251719 |
52 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs780718395 CA2251720 |
53 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA2251721 rs747572722 |
54 | R>C | No |
ClinGen ExAC |
|
|
CA2251723 rs747572722 |
54 | R>G | No |
ClinGen ExAC |
|
|
rs768894672 CA2251724 |
54 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768894672 CA351772012 |
54 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1021665733 CA351772045 |
57 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA2251726 rs139680303 |
57 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA70063829 rs1021665733 |
57 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2251727 rs770650793 |
58 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351772049 rs770650793 |
58 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773787759 CA2251729 |
59 | K>E | No |
ClinGen ExAC TOPMed |
|
|
rs759061497 CA2251730 |
59 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA2251731 rs767073634 |
60 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA70063840 rs767073634 |
60 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752627365 CA2251732 |
62 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 62 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1304513079 CA351772102 |
62 | D>Y | No |
ClinGen gnomAD |
|
|
rs1490639676 CA351772113 |
63 | V>A | No |
ClinGen TOPMed |
|
|
rs760647443 CA2251733 |
65 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs763773957 CA2251734 |
66 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs144351497 CA70063855 |
67 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs950041109 CA351772141 |
67 | R>L | No |
ClinGen gnomAD |
|
|
CA70063872 rs950041109 |
67 | R>P | No |
ClinGen gnomAD |
|
|
CA2251736 rs144351497 |
67 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2251737 rs779198624 |
69 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1456083648 CA351772160 |
70 | S>C | No |
ClinGen gnomAD |
|
|
rs1218864522 CA351772163 |
71 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA2251740 rs573040834 |
72 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA351772187 rs1170436247 |
74 | S>Y | No |
ClinGen gnomAD |
|
|
rs747484501 CA2251742 |
75 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs916902564 CA351772194 |
76 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
COSM1035897 rs193243038 CA2251745 |
76 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs916902564 CA70063918 |
76 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2251746 rs748552326 |
78 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA70063941 rs377423264 |
79 | N>K | No |
ClinGen Ensembl |
|
|
rs770435769 CA2251748 |
80 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1305665918 CA351772221 |
80 | S>Y | No |
ClinGen TOPMed |
|
|
CA70063964 rs887967257 |
83 | S>F | No |
ClinGen Ensembl |
|
|
rs1354578553 CA351772236 |
83 | S>P | No |
ClinGen TOPMed |
|
|
CA2251753 rs771539226 |
84 | F>L | No |
ClinGen ExAC TOPMed |
|
|
rs148201381 CA2251751 |
84 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA70064004 rs908419685 |
85 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs140578965 CA2251754 |
86 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2251755 rs760479547 |
89 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2251756 rs202175963 |
90 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2251758 rs761680364 |
91 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351772290 rs1028637861 |
92 | G>D | No |
ClinGen gnomAD |
|
|
CA2251759 rs749083425 |
92 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA70064014 rs1028637861 |
92 | G>V | No |
ClinGen gnomAD |
|
| TCGA novel | 95 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1411672119 CA351772304 |
95 | G>R | No |
ClinGen gnomAD |
|
|
rs530905999 CA2251762 |
96 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs530905999 CA351772314 |
96 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 98 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1576000938 CA351772343 |
101 | C>R | No |
ClinGen Ensembl |
|
|
CA351772354 rs1218635115 |
103 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs201114165 CA351772357 |
103 | I>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201114165 CA2251763 |
103 | I>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs755375723 CA2251765 |
104 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA70064038 rs1042399978 |
104 | R>Q | No |
ClinGen TOPMed |
|
|
rs755375723 CA2251764 |
104 | R>W | Variant assessed as Somatic; 4.686e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs756498370 CA2251767 |
106 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA2251768 rs561367194 |
108 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs745499227 CA2251769 |
109 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1576000970 CA351772387 |
109 | F>V | No |
ClinGen Ensembl |
|
|
CA70064053 rs956567765 |
110 | L>P | No |
ClinGen Ensembl |
|
|
CA70064072 rs202032189 |
111 | S>F | No |
ClinGen Ensembl |
|
|
CA2251772 rs61730109 |
113 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768418396 CA351772416 |
114 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2251773 rs768418396 |
114 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776614753 CA2251774 |
115 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs150458723 CA2251775 |
116 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs765089984 CA2251776 |
117 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1399720981 CA351772433 |
118 | R>S | No |
ClinGen gnomAD |
|
|
CA2251778 rs763231158 |
121 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA70064101 rs1049338895 |
123 | S>C | No |
ClinGen TOPMed |
|
|
CA2251781 rs1049338895 |
123 | S>Y | No |
ClinGen TOPMed |
|
|
CA2251783 rs755075943 |
124 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs767561474 CA2251784 |
125 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA351772485 rs971176411 |
126 | E>D | No |
ClinGen TOPMed |
|
|
CA2251785 rs753219504 |
126 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1226069178 CA351772508 |
130 | L>V | No |
ClinGen TOPMed |
|
|
rs1217018855 CA351772530 |
133 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1576001069 CA351772538 |
134 | A>S | No |
ClinGen Ensembl |
|
|
rs1263546672 CA351772553 |
136 | S>N | No |
ClinGen gnomAD |
|
|
rs780701214 CA2251814 |
139 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1365916168 CA351764934 |
140 | D>Y | No |
ClinGen gnomAD |
|
|
rs144270599 CA2251815 |
143 | D>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1464804601 CA351764954 |
143 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 143 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs961443403 CA70052591 |
145 | S>Y | No |
ClinGen gnomAD |
|
|
rs552586975 CA351764980 |
146 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs777843824 CA2251817 |
148 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351764994 rs777843824 COSM87820 |
148 | S>F | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA351765054 rs1310234214 |
156 | E>* | No |
ClinGen gnomAD |
|
|
rs1038541643 CA70052622 |
157 | A>T | No |
ClinGen TOPMed |
|
|
rs1232197187 CA351765074 |
157 | A>V | No |
ClinGen gnomAD |
|
|
rs143544454 CA351765092 |
158 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2251823 rs139784228 |
159 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2251824 rs775572152 |
161 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351765159 rs1480348456 |
162 | D>G | No |
ClinGen gnomAD |
|
|
CA2251826 rs764216693 |
164 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA351765189 rs1446080902 |
164 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 165 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754337386 CA2251827 |
165 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2251828 rs375916561 |
165 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2251830 rs750772919 |
168 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA2251829 rs370339532 |
168 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA351765340 rs1169157476 |
170 | V>A | No |
ClinGen gnomAD |
|
|
CA2251832 rs780725030 |
171 | Q>* | No |
ClinGen ExAC |
|
|
COSM1308340 rs1398929371 CA351765399 |
173 | R>G | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs752460238 CA2251833 |
175 | R>K | No |
ClinGen ExAC TOPMed |
|
|
CA2251834 rs373691791 |
176 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs926209508 CA70052729 |
177 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA2251835 rs777467394 |
177 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs151099214 CA2251836 |
178 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770797723 CA2251837 |
179 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778731213 CA2251838 |
179 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1216797323 CA351765539 |
181 | Q>E | No |
ClinGen gnomAD |
|
|
CA2251839 rs745653380 |
181 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA2251840 rs200708539 |
184 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs775562411 CA2251841 |
185 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2251842 rs760954023 |
186 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA351765674 rs1576007977 |
187 | Y>S | No |
ClinGen Ensembl |
|
|
CA2251844 rs776736565 |
190 | A>V | No |
ClinGen ExAC |
|
|
rs1270131707 CA351765758 |
191 | I>L | No |
ClinGen gnomAD |
|
|
CA351765815 rs762256723 |
193 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs762256723 CA2251845 |
193 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA2251847 rs750744085 |
195 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765691630 CA2251846 |
195 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs374060667 CA2251848 |
196 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1347591559 CA351765933 |
198 | S>L | No |
ClinGen gnomAD |
|
|
rs1303378173 CA351765944 |
199 | M>L | No |
ClinGen gnomAD |
|
|
CA2251851 rs755881321 |
200 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs868059814 CA70052785 |
200 | P>L | No |
ClinGen Ensembl |
|
|
rs753432686 CA2251853 |
201 | K>E | No |
ClinGen ExAC gnomAD |
|
| rs1397852707 | 202 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2251854 rs374555335 |
202 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1405813152 CA351766044 |
203 | K>* | No |
ClinGen TOPMed |
|
|
CA2251855 rs778728614 |
203 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs758122936 CA2251857 |
206 | A>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 207 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1576008055 CA351766141 |
207 | A>V | No |
ClinGen Ensembl |
|
|
rs747207064 CA2251859 |
209 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM3845705 rs779863358 CA2251858 |
209 | R>W | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA351766193 rs199748216 |
210 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199748216 CA2251860 |
210 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA351766259 rs1486510031 |
213 | S>N | No |
ClinGen gnomAD |
|
|
CA70052839 rs2241313 |
213 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA351766304 rs1443410858 |
214 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA2251862 rs748227821 |
214 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351766313 rs1443410858 |
214 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs367785698 CA2251864 |
216 | E>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2251863 rs769976539 |
216 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs529268928 CA351766380 |
217 | H>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2251867 rs2241314 |
217 | H>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760366340 CA2251868 |
217 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs2241314 CA2251866 VAR_047028 |
217 | H>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2251865 rs529268928 |
217 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1432887294 CA351766423 |
219 | S>T | No |
ClinGen gnomAD |
|
|
rs763845193 CA2251869 |
220 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA351766447 rs1451317007 |
220 | H>R | No |
ClinGen TOPMed |
|
|
rs763845193 CA351766441 |
220 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs559746296 CA2251871 COSM327530 |
222 | E>G | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA2251872 rs147562335 |
224 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs764868389 CA2251873 |
224 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA2251874 rs750296145 |
225 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA351766572 rs1559460987 |
226 | R>G | No |
ClinGen Ensembl |
|
|
rs1559460990 CA351766605 |
227 | S>R | No |
ClinGen Ensembl |
|
| TCGA novel | 230 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370249364 CA70053004 |
230 | P>S | No |
ClinGen ESP TOPMed |
|
|
rs755123581 CA2251879 |
234 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1576008198 CA351766746 |
237 | A>E | No |
ClinGen Ensembl |
|
|
rs141030272 CA2251882 |
242 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA351766852 rs1157627924 |
245 | A>V | No |
ClinGen gnomAD |
|
|
rs1408447599 CA351766853 |
246 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs773394766 CA2251883 |
247 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA2251884 rs749710932 |
251 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA2251886 rs141238234 |
252 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA351766909 rs1385071044 |
254 | P>A | No |
ClinGen gnomAD |
|
|
rs768051337 CA2251888 |
254 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs768051337 CA351766911 |
254 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1279118788 CA351766914 |
255 | E>* | No |
ClinGen gnomAD |
|
|
CA351766922 rs394558 |
256 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs394558 VAR_047029 CA2251889 |
256 | V>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA351766921 rs394558 |
256 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA70053062 rs1029735291 |
257 | S>G | No |
ClinGen Ensembl |
|
|
CA2251891 rs761566077 |
258 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 260 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779967912 CA2251892 |
260 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs749968523 CA2251893 |
261 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2251894 rs762755485 |
262 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2251895 rs766306350 |
262 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs751295525 CA2251896 |
264 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351766975 rs1478662565 |
264 | V>M | No |
ClinGen TOPMed |
|
|
rs1233046718 CA351767000 |
267 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1484113534 CA351767004 |
268 | S>N | No |
ClinGen TOPMed |
|
|
rs1198192857 CA351767013 |
269 | S>N | No |
ClinGen gnomAD |
|
|
rs368345107 CA2251897 |
271 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1189295195 CA351767040 |
273 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA351767059 rs1470296612 |
275 | V>E | No |
ClinGen gnomAD |
|
|
rs781008563 CA2251899 |
277 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1408224376 CA351767073 |
278 | D>N | No |
ClinGen gnomAD |
|
|
rs1328464973 CA351767076 |
278 | D>V | No |
ClinGen gnomAD |
|
|
rs372933124 CA2251900 |
279 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1444606939 CA351767086 |
280 | Q>E | No |
ClinGen gnomAD |
|
|
CA351767089 rs1281834197 |
280 | Q>P | No |
ClinGen gnomAD |
|
| TCGA novel | 281 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1345264980 CA351767093 |
281 | E>K | No |
ClinGen gnomAD |
|
|
rs768198484 CA70053098 |
284 | S>N | No |
ClinGen gnomAD |
|
|
CA2251901 rs756381793 |
285 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA351767135 rs1219626471 |
286 | E>D | No |
ClinGen TOPMed |
|
|
CA351767130 rs1277353581 |
286 | E>Q | No |
ClinGen gnomAD |
|
|
rs1315553304 CA351767140 |
287 | P>H | No |
ClinGen gnomAD |
|
|
CA2251902 rs777675072 |
288 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1439244665 CA351767149 |
289 | G>R | No |
ClinGen gnomAD |
|
|
CA2251903 rs749391920 |
290 | D>A | No |
ClinGen ExAC gnomAD |
|
|
COSM288983 CA2251904 rs771509725 |
291 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs779548288 CA2251905 |
291 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2251906 rs746442428 |
292 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA351767171 rs1421334681 |
293 | T>A | No |
ClinGen gnomAD |
|
|
rs772532651 CA2251907 |
293 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1277761704 CA351767186 |
295 | I>F | No |
ClinGen TOPMed |
|
|
CA2251908 rs775972773 |
295 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1230148152 CA351767209 |
296 | D>G | No |
ClinGen TOPMed |
|
|
CA2251909 rs761319045 |
297 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351767255 rs1301453488 |
298 | C>W | No |
ClinGen gnomAD |
|
|
rs1411927411 CA351767244 |
298 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs769513602 CA351767272 |
299 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs769513602 CA2251910 |
299 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs988985353 CA70053146 |
300 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA2251911 rs772527623 |
300 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA351767304 rs1325241543 |
301 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1360498039 CA351767432 |
306 | D>G | No |
ClinGen TOPMed |
|
|
rs61730108 CA2251912 |
308 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs751471377 CA351767492 |
309 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1415454538 CA351767481 |
309 | D>H | No |
ClinGen TOPMed |
|
|
rs772292150 CA70053170 |
311 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs775091867 CA2251936 |
320 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1026281429 CA70058589 |
320 | R>T | No |
ClinGen Ensembl |
|
|
CA2251937 rs760507154 |
324 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1223506671 CA351769512 |
325 | E>Q | No |
ClinGen TOPMed |
|
|
CA2251939 rs754059549 |
326 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1239448129 CA351769582 |
329 | S>F | No |
ClinGen gnomAD |
|
|
CA2251944 rs780621490 |
332 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2251943 rs758905079 |
332 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1353963266 CA351769612 |
333 | W>C | No |
ClinGen TOPMed |
|
|
rs546405964 CA70058617 |
334 | S>F | No |
ClinGen TOPMed |
|
|
rs1327138468 CA351769616 |
334 | S>P | No |
ClinGen TOPMed |
|
|
rs546405964 CA351769617 |
334 | S>Y | No |
ClinGen TOPMed |
|
|
rs1461774037 CA351769620 |
335 | D>H | No |
ClinGen gnomAD |
|
|
CA351769635 rs1175426317 |
336 | V>A | No |
ClinGen TOPMed |
|
|
CA2251945 rs747525251 |
341 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA351769735 rs1233224821 |
343 | R>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1233224821 CA351769732 |
343 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA351769767 rs1183040057 |
345 | S>C | No |
ClinGen gnomAD |
|
|
CA351769776 rs748894179 |
346 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2251948 rs748894179 |
346 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351769781 rs1176251046 |
346 | Q>R | No |
ClinGen gnomAD |
|
|
rs770605030 CA2251949 |
348 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs117425597 CA2251951 |
351 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs117425597 CA351769855 |
351 | S>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771541634 CA2251952 |
352 | L>Q | No |
ClinGen ExAC |
|
|
CA351769862 rs1576013946 |
352 | L>V | No |
ClinGen Ensembl |
|
|
CA351769885 rs1576013954 |
353 | K>N | No |
ClinGen Ensembl |
|
|
rs1183557806 CA351769894 |
354 | P>S | No |
ClinGen TOPMed |
|
|
CA2251954 rs760567540 |
356 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2251956 rs372749908 |
357 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
VAR_047030 CA2251959 rs2075352 |
358 | P>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA351769954 rs2075352 |
358 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139610197 CA2251958 |
358 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2251961 rs201028918 |
359 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1255695165 CA351770010 |
362 | S>F | No |
ClinGen gnomAD |
|
|
CA351770030 rs1489944606 |
363 | F>L | No |
ClinGen gnomAD |
|
|
rs755465555 CA2251963 |
364 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2251965 rs748517761 |
365 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA2251967 rs778525733 |
366 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2251968 rs745589319 |
369 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs771578672 CA2251969 |
370 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1196115301 CA351770116 |
371 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs774910184 CA2251970 |
371 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA2251971 COSM149334 rs191162344 |
372 | P>A | stomach [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA2251972 rs768507294 |
372 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1177078074 CA351770126 |
373 | H>R | No |
ClinGen TOPMed |
|
|
rs761710079 CA2251974 |
374 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs1293602874 CA351770137 |
375 | Y>H | No |
ClinGen gnomAD |
|
|
rs769767163 CA2251975 |
376 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs773561537 CA2251976 |
376 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA2251978 rs766436624 |
380 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1399984547 CA351770181 |
381 | D>H | No |
ClinGen TOPMed |
|
|
rs929618355 CA70058839 |
382 | Y>C | No |
ClinGen TOPMed |
|
|
CA2251981 rs370633316 |
383 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351770196 rs760026472 |
383 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA2251980 rs760026472 |
383 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA351770201 rs1185283581 |
384 | S>C | No |
ClinGen gnomAD |
|
|
COSM326634 CA70058863 rs942584202 |
385 | Y>C | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA2251983 rs756468484 |
387 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 387 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1245279213 CA351770249 |
390 | P>R | No |
ClinGen TOPMed |
|
|
rs1170120291 CA351770246 |
390 | P>S | No |
ClinGen gnomAD |
|
|
rs778153707 CA2251984 |
392 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA70058878 rs372553860 |
393 | S>A | No |
ClinGen gnomAD |
|
|
rs372553860 CA351770264 |
393 | S>P | No |
ClinGen gnomAD |
|
|
rs1576014101 CA351770279 |
395 | Y>S | No |
ClinGen Ensembl |
|
|
rs750053141 CA2251985 |
396 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1039606134 CA70058887 |
397 | S>P | No |
ClinGen TOPMed |
|
|
rs758008127 CA2251986 |
398 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA70058893 rs764703154 |
400 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1225506980 CA351770333 |
403 | N>I | No |
ClinGen TOPMed |
|
|
rs143575255 CA2251989 |
403 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs142076830 CA2251990 |
404 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs781258769 CA2251991 |
406 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs748161096 CA351770362 |
408 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs1576014132 CA351770363 |
408 | V>G | No |
ClinGen Ensembl |
|
|
rs748161096 CA2251992 |
408 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs947868142 CA70058927 |
409 | G>E | No |
ClinGen Ensembl |
|
|
CA2251994 rs773166488 |
411 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA351770381 rs1214294365 |
411 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs763198373 CA2251995 |
412 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs774435888 CA351770395 |
413 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2251997 rs774435888 |
413 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771067261 CA2251996 |
413 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1044522457 CA70058943 |
414 | S>R | No |
ClinGen gnomAD |
|
|
CA2251999 rs767653952 |
415 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM247720 CA2252000 rs374867810 |
415 | R>H | prostate [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA70058944 rs374867810 |
415 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2252004 rs757998493 |
416 | M>I | No |
ClinGen ExAC |
|
|
rs61730105 CA2252003 |
416 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2252002 rs764390623 |
416 | M>V | No |
ClinGen ExAC |
|
|
CA2252005 rs779586309 |
417 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2252007 rs754530670 |
418 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351770419 rs1322711310 |
418 | D>N | No |
ClinGen gnomAD |
|
|
CA70058997 rs960841538 |
419 | Y>C | No |
ClinGen TOPMed |
|
|
rs150695751 CA2252008 |
419 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1240837552 CA351770435 |
420 | S>F | No |
ClinGen TOPMed |
|
|
CA2252009 rs748051131 |
421 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA351770449 rs756152536 |
422 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA2252012 rs749050163 |
424 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2252013 rs770822350 |
425 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1559463479 CA351770467 |
426 | S>C | No |
ClinGen Ensembl |
|
|
CA351770476 rs1211114901 |
427 | V>L | No |
ClinGen gnomAD |
|
|
rs929781567 CA70059024 |
428 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA2252017 rs775567522 |
431 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1213749757 CA351770515 |
433 | D>H | No |
ClinGen TOPMed |
|
|
rs149430731 CA2252019 |
434 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA351770537 rs1227767233 |
435 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs776992008 CA351770539 |
436 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2252020 rs776992008 |
436 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2252021 rs762071006 |
437 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2252022 rs765699282 |
439 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351770567 rs1404019526 |
440 | G>A | No |
ClinGen gnomAD |
|
|
rs751139427 CA70059048 |
441 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751139427 CA2252023 |
441 | W>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754725019 CA2252024 |
442 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs767098278 CA2252025 |
444 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752261814 CA2252026 |
445 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs202022653 CA2252027 |
446 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA2252028 rs140057507 |
446 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1490829407 CA351770606 |
447 | S>A | No |
ClinGen gnomAD |
|
|
CA351770620 rs557647156 |
449 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1030699242 CA70059062 |
449 | R>H | No |
ClinGen gnomAD |
|
|
CA2252029 rs557647156 |
449 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1280096160 CA351770656 |
454 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1280096160 CA351770657 |
454 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2252030 rs756974450 |
455 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA2252032 rs778819458 |
458 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA351770692 rs1576014312 |
459 | V>G | No |
ClinGen Ensembl |
|
|
rs1197218894 CA351770722 |
463 | R>S | No |
ClinGen gnomAD |
|
|
rs147579093 CA351770724 |
464 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147579093 CA2252033 |
464 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772309558 CA351770736 |
465 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1172897255 CA351770739 |
466 | Q>* | No |
ClinGen gnomAD |
|
|
CA70059102 rs933810527 |
466 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1305559190 CA351770765 |
469 | M>I | No |
ClinGen TOPMed |
|
|
rs1559463549 CA351770762 |
469 | M>L | No |
ClinGen Ensembl |
|
|
rs747101023 CA2252036 |
469 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1297384580 CA351770773 |
470 | P>L | No |
ClinGen TOPMed |
|
|
rs776999048 CA2252038 |
471 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs768781324 CA2252037 COSM727486 |
471 | P>S | lung Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA2252041 rs773658778 |
472 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1010950060 CA351770781 |
472 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA70059122 rs1010950060 |
472 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA351770815 rs140414649 |
477 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1336802868 CA351770813 |
477 | H>R | No |
ClinGen gnomAD |
|
|
CA351770817 rs557665159 |
478 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2252044 COSM356977 rs557665159 |
478 | A>T | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA2252046 rs763702997 |
481 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA2252048 rs202027258 |
482 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1576014402 CA351770848 |
483 | P>R | No |
ClinGen Ensembl |
|
|
CA351770852 rs1429178144 |
484 | K>* | No |
ClinGen TOPMed |
|
|
CA2252049 rs530098157 |
484 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs916495288 CA70059134 |
485 | S>N | No |
ClinGen Ensembl |
|
| TCGA novel | 488 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1248536574 CA351770878 |
488 | E>Q | No |
ClinGen gnomAD |
|
|
CA2252051 rs542312339 |
489 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 490 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2252052 rs201047759 |
494 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 495 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351770933 rs1431812295 |
496 | I>V | No |
ClinGen gnomAD |
|
|
rs747299019 CA2252053 |
498 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1479771529 CA351770961 |
500 | C>G | No |
ClinGen TOPMed |
|
|
CA2252055 rs781381156 |
500 | C>Y | No |
ClinGen ExAC |
|
|
CA351770992 rs1297642225 |
504 | M>T | No |
ClinGen gnomAD |
|
|
rs1429375518 CA351770988 |
504 | M>V | No |
ClinGen gnomAD |
|
|
rs1243245700 CA351771007 |
506 | Y>C | No |
ClinGen gnomAD |
|
|
rs146494317 CA2252060 |
507 | S>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1261200574 CA351771034 |
510 | S>C | No |
ClinGen TOPMed |
|
|
CA70059169 rs930736683 |
512 | Q>K | No |
ClinGen Ensembl |
|
|
CA351771056 rs1211621500 |
514 | T>P | No |
ClinGen gnomAD |
|
|
rs1282033421 CA351771077 |
517 | K>E | No |
ClinGen gnomAD |
|
|
rs368596348 CA70059170 |
517 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
rs760456570 CA2252062 |
521 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA351771112 rs1292280871 |
522 | Y>N | No |
ClinGen gnomAD |
|
|
CA351771121 rs1181975424 |
523 | S>G | No |
ClinGen gnomAD |
|
|
rs1385068797 CA351771135 |
524 | S>R | No |
ClinGen gnomAD |
|
|
CA351771141 rs1458714538 |
525 | S>F | No |
ClinGen gnomAD |
|
|
rs200643217 CA70059172 |
527 | P>S | No |
ClinGen 1000Genomes |
|
|
rs1165550070 CA351771155 |
528 | K>E | No |
ClinGen gnomAD |
|
|
rs1047794283 CA70059175 |
528 | K>M | No |
ClinGen Ensembl |
|
|
CA351771184 rs1383477056 |
531 | Q>H | No |
ClinGen gnomAD |
|
|
rs765230626 CA2252066 |
538 | C>W | No |
ClinGen ExAC gnomAD |
|
|
COSM173070 rs576056241 CA2252067 |
541 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs149139813 CA2252068 |
541 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1375030695 CA351771259 |
542 | T>I | No |
ClinGen TOPMed |
|
|
CA70059202 rs960982012 |
543 | L>V | No |
ClinGen TOPMed |
|
|
CA2252071 rs552635940 |
544 | T>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2252074 rs769823556 |
549 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA351771312 rs1202064443 |
550 | E>D | No |
ClinGen gnomAD |
|
|
rs749854960 CA2252076 |
554 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1190073012 CA351771352 |
556 | L>P | No |
ClinGen gnomAD |
|
|
rs760207659 CA2252079 |
557 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351771354 rs1470076771 |
557 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA351771355 rs1470076771 |
557 | V>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 560 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351771374 rs768356638 |
560 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2252080 rs768356638 |
560 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764716702 CA2252083 |
566 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750329499 CA2252084 |
569 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM180569 rs1205495694 CA351771439 |
569 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA351771460 rs1326615589 |
570 | Y>C | No |
ClinGen gnomAD |
|
|
CA2252085 rs762926532 |
571 | Y>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2252086 rs766111900 |
572 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1290115533 CA351771498 |
572 | S>N | No |
ClinGen gnomAD |
|
|
CA351771512 rs1331364388 |
573 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1331364388 CA351771513 |
573 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs751385574 CA2252087 |
574 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs755099708 CA2252088 |
575 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1202324441 CA351771580 |
577 | R>G | No |
ClinGen gnomAD |
|
|
CA351771596 rs1248939057 |
577 | R>S | No |
ClinGen gnomAD |
|
|
CA2252091 rs140889617 |
578 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2252090 rs115264168 |
578 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1382519873 CA351771616 |
579 | L>V | No |
ClinGen TOPMed |
|
|
CA2252093 rs368014276 |
581 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1175108923 CA351771669 |
582 | A>G | No |
ClinGen gnomAD |
|
|
rs975074612 CA70059262 |
583 | L>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 584 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1467322820 CA351771762 |
588 | A>P | No |
ClinGen gnomAD |
|
|
rs1467322820 CA351771763 |
588 | A>S | No |
ClinGen gnomAD |
|
|
rs1451744693 CA351771769 |
588 | A>V | No |
ClinGen TOPMed |
|
|
rs749767833 CA2252094 |
589 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1444174404 CA351771893 |
597 | D>Y | No |
ClinGen TOPMed |
|
|
rs746966071 CA70059272 |
599 | S>P | No |
ClinGen Ensembl |
|
|
CA351771950 rs779351140 |
600 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1309578174 CA351771936 |
600 | Y>H | No |
ClinGen gnomAD |
|
|
rs1383212473 CA351771942 |
600 | Y>S | No |
ClinGen TOPMed |
|
|
CA2252097 rs746254813 |
602 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA2252098 rs772375229 |
604 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747794585 CA2252100 |
606 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA70059286 rs1052783437 |
607 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1206348116 CA351772046 |
607 | P>Q | No |
ClinGen gnomAD |
|
|
CA351772057 rs1490005154 |
608 | E>G | No |
ClinGen gnomAD |
|
|
rs913701009 CA70059289 |
611 | K>E | No |
ClinGen TOPMed |
|
|
rs772729593 CA2252102 |
611 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351773421 rs1576017574 |
613 | F>L | No |
ClinGen Ensembl |
|
|
rs748783929 CA2252122 |
616 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1421439076 CA351773495 |
618 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA351773508 rs1410112662 |
618 | Q>H | No |
ClinGen TOPMed |
|
|
rs1436169628 CA351773524 |
620 | A>S | No |
ClinGen gnomAD |
|
|
rs1381097889 CA351773543 |
621 | V>E | No |
ClinGen gnomAD |
|
|
CA2252124 rs774315052 |
621 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA351773561 rs1228142478 |
622 | S>F | No |
ClinGen gnomAD |
|
|
CA2252126 rs199503138 |
624 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351773602 rs1200613831 |
625 | K>T | No |
ClinGen TOPMed |
|
|
CA351773621 rs1214189680 |
626 | P>S | No |
ClinGen gnomAD |
|
|
CA351773640 rs560183949 CA70062061 |
627 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA2252127 rs775183978 |
630 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA70062064 rs995846510 |
632 | R>* | No |
ClinGen gnomAD |
|
|
CA351773701 rs995846510 |
632 | R>G | No |
ClinGen gnomAD |
|
|
rs760916206 CA2252128 |
632 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760916206 CA351773710 |
632 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351773730 rs1182252138 |
635 | D>G | No |
ClinGen gnomAD |
|
|
rs1415613568 CA351773734 |
636 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA2252130 rs754168998 |
637 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA2252129 rs764427919 |
637 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1411392936 CA351773753 |
639 | L>I | No |
ClinGen gnomAD |
|
|
rs1444241467 CA351773762 |
640 | E>G | No |
ClinGen gnomAD |
|
|
CA70062074 rs1021938120 |
641 | I>M | No |
ClinGen Ensembl |
|
|
rs1457808262 CA351773767 |
641 | I>V | No |
ClinGen gnomAD |
|
|
CA351773778 rs1322593744 |
642 | M>I | No |
ClinGen gnomAD |
|
|
CA2252131 rs761975719 |
644 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA351773806 rs1409050479 |
646 | V>L | No |
ClinGen TOPMed |
|
|
CA351773804 rs1409050479 |
646 | V>M | No |
ClinGen TOPMed |
|
| TCGA novel | 648 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2252134 rs765079750 |
648 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2252135 rs758850552 |
651 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs886566626 CA70062846 |
655 | H>P | No |
ClinGen TOPMed |
|
|
rs1199061564 CA351773901 |
658 | T>P | No |
ClinGen TOPMed |
|
|
rs755307422 CA351773908 |
659 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1483997247 CA351773909 |
659 | G>D | No |
ClinGen gnomAD |
|
|
rs755307422 CA2252155 |
659 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA2252159 rs778424624 |
662 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs778424624 CA2252160 |
662 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756938250 CA2252158 |
662 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs956939180 CA70062876 |
664 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs756980466 CA70062872 |
664 | I>T | No |
ClinGen gnomAD |
|
|
CA351773955 rs1432237384 |
666 | P>L | No |
ClinGen gnomAD |
|
|
rs1371558374 CA351773950 |
666 | P>T | No |
ClinGen gnomAD |
|
|
rs1330046710 CA351773959 |
667 | L>P | No |
ClinGen gnomAD |
|
|
rs746979637 CA2252163 |
669 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA2252164 rs768545546 |
672 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA2252166 rs762086154 |
673 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351773999 rs1227129202 |
673 | N>S | No |
ClinGen gnomAD |
|
|
rs1200773060 CA351773996 |
673 | N>Y | No |
ClinGen TOPMed |
|
|
CA2252167 rs543489055 |
674 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1289019435 CA351774013 |
675 | S>F | No |
ClinGen gnomAD |
|
|
CA70062890 rs1016232266 |
675 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs773283198 CA2252168 |
676 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs1222424944 CA351774026 |
678 | F>L | No |
ClinGen gnomAD |
|
|
rs762939689 CA2252169 |
679 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs774817252 CA2252171 |
680 | A>S | No |
ClinGen ExAC |
|
|
rs760058948 CA2252172 |
681 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA2252175 rs200667403 COSM1267445 |
686 | S>F | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA351774078 rs1352245538 |
687 | A>T | No |
ClinGen TOPMed |
|
|
CA70062934 rs1029686612 |
687 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA351774104 rs1190045768 |
690 | A>V | No |
ClinGen gnomAD |
|
|
CA70062950 rs913405694 |
691 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
COSM1535601 CA2252176 rs764786371 |
691 | R>W | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1324961918 CA351774121 |
693 | A>G | No |
ClinGen gnomAD |
|
|
CA2252178 rs201190123 |
695 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779659845 CA2252179 |
696 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351774149 rs1297850069 |
697 | I>M | No |
ClinGen gnomAD |
|
|
CA351774162 rs1470026308 |
700 | E>Q | No |
ClinGen TOPMed |
|
|
rs1463774416 CA351774173 |
701 | R>K | No |
ClinGen gnomAD |
|
|
CA2252180 rs746890102 |
702 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA351774189 rs1356979238 |
704 | V>M | No |
ClinGen gnomAD |
|
|
CA2252182 rs751129169 |
706 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1208395190 CA351774223 |
709 | P>S | No |
ClinGen gnomAD |
|
|
rs1466385166 CA351774233 |
710 | Y>C | No |
ClinGen gnomAD |
|
|
CA2252186 rs749573692 |
713 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351774254 rs749573692 |
713 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351774252 COSM1692366 rs1185886787 |
713 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA2252187 COSM1267444 rs150215933 |
714 | R>C | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA2252188 rs774447497 |
714 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs759111953 CA2252216 |
716 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs759111953 CA70063313 |
716 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs940553881 CA70063316 |
717 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs561160962 CA2252217 |
719 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs61730103 CA2252218 |
719 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA70063335 rs749253670 |
722 | Q>R | No |
ClinGen gnomAD |
|
|
rs1299777947 CA351774327 |
723 | Y>C | No |
ClinGen TOPMed |
|
|
rs1389380204 CA351774335 |
724 | A>G | No |
ClinGen gnomAD |
|
|
rs1576019318 CA351774340 |
725 | H>P | No |
ClinGen Ensembl |
|
|
CA2252222 rs757103922 |
725 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1449811954 CA351774339 |
725 | H>Y | No |
ClinGen gnomAD |
|
|
CA2252223 rs779106599 |
726 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs746132612 CA2252224 |
726 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA70063342 rs779106599 |
726 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA351774360 rs1318757211 |
729 | A>S | No |
ClinGen gnomAD |
|
|
COSM1035901 rs1229635528 CA351774383 |
732 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA351774381 rs1576019333 |
732 | T>S | No |
ClinGen Ensembl |
|
|
rs762223690 CA2252230 |
733 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA70063387 rs774219808 |
734 | R>* | No |
ClinGen Ensembl |
|
|
CA351774393 rs1265578147 |
734 | R>P | No |
ClinGen gnomAD |
|
|
rs1469402062 CA351774416 |
737 | A>S | No |
ClinGen gnomAD |
|
|
CA351774444 rs1465029576 |
739 | V>F | No |
ClinGen gnomAD |
|
|
CA2252233 rs571473045 |
740 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2252235 rs752257135 |
741 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 741 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351774537 rs1369174299 |
742 | Q>* | No |
ClinGen gnomAD |
|
|
rs1369174299 CA351774544 |
742 | Q>K | No |
ClinGen gnomAD |
|
|
CA351774549 rs1463110719 |
742 | Q>R | No |
ClinGen gnomAD |
|
|
rs141696630 CA2252236 |
743 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1436010738 CA351774594 |
745 | S>Y | No |
ClinGen gnomAD |
|
|
rs201571997 CA70063435 |
749 | A>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201571997 CA2252238 |
749 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs866437105 CA70063430 |
749 | A>S | No |
ClinGen Ensembl |
|
|
CA351774654 rs201571997 |
749 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA351774657 rs1559465630 |
750 | A>T | No |
ClinGen Ensembl |
|
|
rs1396011446 CA351774690 |
752 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA351774692 rs1314028480 |
752 | R>H | No |
ClinGen gnomAD |
|
|
rs778724431 CA2252240 |
755 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761917837 COSM1417473 CA2252241 |
757 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs761917837 CA2252242 |
757 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2252243 rs150531495 COSM379298 |
757 | R>H | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs150531495 CA2252244 |
757 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1217485926 CA351774826 COSM1228535 |
759 | Y>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs781720460 CA2252246 |
760 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA70063504 rs201377173 |
762 | L>Q | No |
ClinGen Ensembl |
No associated diseases with Q93075
3 regional properties for Q93075
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | Deoxyribonuclease, TatD-related, conserved site | 495 - 503 | IPR018228-1 |
| conserved_site | Deoxyribonuclease, TatD-related, conserved site | 626 - 636 | IPR018228-2 |
| conserved_site | Deoxyribonuclease, TatD-related, conserved site | 693 - 709 | IPR018228-3 |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| metal ion binding | Binding to a metal ion. |
| nuclease activity | Catalysis of the hydrolysis of ester linkages within nucleic acids. |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MASERGKVKH | NWSSTSEGCP | RKRSCLREPC | DVAPSSRPAQ | RSASRSGGPS | SPKRLKAQKE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DDVACSRRLS | WGSSRRRNNS | SSSFSPHFLG | PGVGGAASKG | CLIRNTRGFL | SSGGSPLRPA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| NASLEEMASL | EEEACSLKVD | SKDSSHNSTN | SEFAAEAEGQ | NDTIEEPNKV | QKRKRDRLRD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QGSTMIYLKA | IQGILGKSMP | KRKGEAATRA | KPSAAEHPSH | GEGPARSEGP | AKTAEGAARS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VTVTAAQKEK | DATPEVSMEE | DKTVPERSSF | YDRRVVIDPQ | EKPSEEPLGD | RRTVIDKCSP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PLEFLDDSDS | HLEIQKHKDR | EVVMEHPSSG | SDWSDVEEIS | TVRFSQEEPV | SLKPSAVPEP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SSFTTDYVMY | PPHLYSSPWC | DYASYWTSSP | KPSSYPSTGS | SSNDAAQVGK | SSRSRMSDYS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| PNSTGSVQNT | SRDMEASEEG | WSQNSRSFRF | SRSSEEREVK | EKRTFQEEMP | PRPCGGHASS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SLPKSHLEPS | LEEGFIDTHC | HLDMLYSKLS | FQGTFTKFRK | IYSSSFPKEF | QGCISDFCDP |
| 550 | 560 | 570 | 580 | 590 | 600 |
| RTLTDCLWEE | LLKEDLVWGA | FGCHPHFARY | YSESQERNLL | QALRHPKAVA | FGEMGLDYSY |
| 610 | 620 | 630 | 640 | 650 | 660 |
| KCTTPVPEQH | KVFERQLQLA | VSLKKPLVIH | CREADEDLLE | IMKKFVPPDY | KIHRHCFTGS |
| 670 | 680 | 690 | 700 | 710 | 720 |
| YPVIEPLLKY | FPNMSVGFTA | VLTYSSAWEA | REALRQIPLE | RIIVETDAPY | FLPRQVPKSL |
| 730 | 740 | 750 | 760 | ||
| CQYAHPGLAL | HTVREIARVK | DQPLSLTLAA | LRENTSRLYS | L |