Q9HCS7
PR
Gene name |
XAB2 (HCNP, KIAA1177, SYF1, PP3898) |
Protein name |
Pre-mRNA-splicing factor SYF1 |
Names |
Protein HCNP, XPA-binding protein 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:56949 |
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
18 structures for Q9HCS7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 5MQF | EM | 590 A | M | 1-855 | PDB |
| 5XJC | EM | 360 A | I | 1-855 | PDB |
| 5YZG | EM | 410 A | I | 1-855 | PDB |
| 5Z56 | EM | 510 A | I | 1-855 | PDB |
| 5Z57 | EM | 650 A | I | 1-855 | PDB |
| 6FF7 | EM | 450 A | M | 1-855 | PDB |
| 6ICZ | EM | 300 A | I | 1-855 | PDB |
| 6ID0 | EM | 290 A | I | 1-855 | PDB |
| 6ID1 | EM | 286 A | I | 1-855 | PDB |
| 6QDV | EM | 330 A | T | 1-855 | PDB |
| 7A5P | EM | 500 A | M | 1-855 | PDB |
| 7ABI | EM | 800 A | M | 1-855 | PDB |
| 7W59 | EM | 360 A | I | 1-855 | PDB |
| 7W5A | EM | 360 A | I | 1-855 | PDB |
| 7W5B | EM | 430 A | I | 1-855 | PDB |
| 8C6J | EM | 280 A | T | 1-855 | PDB |
| 8CH6 | EM | 590 A | z | 1-855 | PDB |
| AF-Q9HCS7-F1 | Predicted | AlphaFoldDB |
750 variants for Q9HCS7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs773745752 CA403153463 |
2 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs773745752 CA9142814 |
2 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA403153467 rs1427180903 |
2 | V>M | No |
ClinGen TOPMed |
|
|
CA403153458 rs1168837232 |
3 | V>A | No |
ClinGen gnomAD |
|
|
CA403153460 rs1418270431 |
3 | V>L | No |
ClinGen gnomAD |
|
|
CA403153456 rs141227968 |
4 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9142813 rs141227968 |
4 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781412220 CA9142812 |
5 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA403153446 rs1192815252 |
5 | A>S | No |
ClinGen gnomAD |
|
|
CA9142811 rs781412220 |
5 | A>V | Variant assessed as Somatic; 5.174e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA403153443 rs1248404545 |
6 | R>G | No |
ClinGen gnomAD |
|
|
CA403153442 rs768686077 |
6 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA9142810 rs768686077 |
6 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA403153430 rs146660753 |
8 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9142806 rs146660753 |
8 | S>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9142803 rs142654083 |
9 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9142802 rs142654083 |
9 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756333810 CA9142804 |
9 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745944962 CA9142801 |
10 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs745944962 CA403153423 |
10 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1369383958 CA403153418 |
11 | E>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 11 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs927168782 CA304898243 |
13 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA403153406 rs927168782 |
13 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1308158573 CA403153409 |
13 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA403153402 rs1433570453 |
14 | D>A | No |
ClinGen gnomAD |
|
|
rs765949879 COSM1232897 CA9142799 |
14 | D>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs765949879 CA403153404 |
14 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs773800959 CA9142797 |
15 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs765704906 CA9142796 |
15 | L>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 17 | F>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776775897 CA9142794 |
17 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA9142770 rs528617364 |
18 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 19 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs980691895 CA304897903 |
19 | E>G | No |
ClinGen TOPMed |
|
|
COSM459820 CA9142768 rs773188484 |
19 | E>K | cervix Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA9142767 rs769693932 |
20 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1015536432 CA403153342 |
21 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA403153343 rs1473948407 |
21 | D>V | No |
ClinGen TOPMed |
|
|
CA403153325 rs747931729 |
24 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA9142766 rs747931729 |
24 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA403153326 rs1425737034 |
24 | Y>H | No |
ClinGen gnomAD |
|
|
CA403153316 rs1188259090 |
25 | E>V | No |
ClinGen gnomAD |
|
|
rs768281321 CA9142764 |
29 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA304897891 rs764953304 |
29 | M>R | No |
ClinGen gnomAD |
|
|
rs764953304 CA403153287 |
29 | M>T | No |
ClinGen gnomAD |
|
|
CA304897885 rs199559592 |
30 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA9142763 rs779853299 |
30 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403153269 rs1244912767 |
32 | Q>R | No |
ClinGen gnomAD |
|
|
CA9142761 rs377139236 |
33 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 34 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1599374951 CA403153247 |
35 | V>A | No |
ClinGen Ensembl |
|
|
rs749931572 CA9142760 |
38 | W>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1015002335 CA304897879 |
40 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1338566158 CA403153213 |
40 | R>H | No |
ClinGen TOPMed |
|
|
rs371936099 CA304897877 |
42 | I>F | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs150056983 CA9142759 |
42 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs371936099 CA403153201 |
42 | I>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1389957647 CA403153188 |
44 | F>L | No |
ClinGen gnomAD |
|
|
rs184316253 CA9142756 |
45 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs760881021 CA9142755 |
46 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9142752 rs199640570 |
48 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA304897862 rs199640570 |
48 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA304897858 rs140460569 |
49 | P>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs151246967 CA9142751 |
52 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9142750 CA403153134 rs770873229 |
52 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761825574 CA9142749 |
55 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779902411 CA9142746 |
58 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9142745 rs779902411 |
58 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9142743 rs745479132 |
60 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs778590734 CA9142742 |
61 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs756661898 CA9142741 |
63 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1019280537 CA304897839 |
66 | C>R | No |
ClinGen TOPMed |
|
|
rs1394404942 CA403153053 |
66 | C>Y | No |
ClinGen gnomAD |
|
|
rs1568455954 CA403152909 |
67 | S>R | No |
ClinGen Ensembl |
|
| TCGA novel | 70 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA304897723 rs1009716819 |
71 | W>C | No |
ClinGen Ensembl |
|
|
CA403152836 rs1380454446 |
73 | R>* | No |
ClinGen TOPMed |
|
|
CA403152830 rs1201995674 |
73 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA403152834 rs1201995674 |
73 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs947855381 CA304897720 |
74 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA403152810 rs1352399251 |
75 | L>V | No |
ClinGen gnomAD |
|
|
CA9142717 rs755270999 |
77 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751849996 CA9142716 |
77 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs188460566 CA9142714 |
78 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1205577155 CA403152771 |
78 | R>H | No |
ClinGen gnomAD |
|
|
rs765320803 CA9142712 COSM179860 |
79 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs750439287 CA9142713 |
79 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs904789196 CA304897707 |
80 | A>S | No |
ClinGen Ensembl |
|
|
rs1044594807 CA304897704 |
83 | K>N | No |
ClinGen Ensembl |
|
|
rs371834215 CA9142711 |
84 | H>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9142710 rs767423268 |
85 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA403152685 rs1413502968 |
85 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs767423268 CA9142709 |
85 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs770464233 CA9142706 |
88 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs200149051 CA9142701 |
89 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9142702 rs748661111 |
89 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748661111 CA9142703 |
89 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9142700 rs755397413 |
90 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA9142699 rs747316750 |
91 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 91 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9142698 rs780364005 |
92 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403152600 rs1418989864 |
93 | E>K | No |
ClinGen TOPMed |
|
|
rs758580585 CA9142697 |
96 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1279195245 CA403152539 |
97 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA304897669 rs992962878 |
101 | R>S | No |
ClinGen Ensembl |
|
|
CA304897663 rs940099403 |
103 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1437860442 CA403152441 |
104 | V>A | No |
ClinGen gnomAD |
|
|
CA304897661 rs756609471 |
106 | M>T | No |
ClinGen Ensembl |
|
|
CA403152393 rs1342848489 |
108 | K>Q | No |
ClinGen gnomAD |
|
|
CA403152310 rs1400805526 |
109 | M>I | No |
ClinGen TOPMed |
|
|
CA403152299 rs1409088462 |
110 | P>L | No |
ClinGen TOPMed |
|
|
CA403152302 rs1284588197 |
110 | P>S | No |
ClinGen gnomAD |
|
|
rs201355918 CA9142667 |
111 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA9142666 rs768110077 |
111 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA403152283 rs1463257553 |
113 | W>* | No |
ClinGen gnomAD |
|
|
rs1357194330 CA403152279 |
114 | L>V | No |
ClinGen gnomAD |
|
|
CA9142663 rs772382840 |
115 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs201653220 CA9142664 |
115 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA304897542 rs922055766 |
116 | Y>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 116 | Y>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9142662 rs746228043 |
117 | C>F | No |
ClinGen ExAC |
|
|
CA9142661 rs779322789 |
118 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779322789 CA403152252 |
118 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304897534 rs11539098 |
123 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs778020588 CA9142658 |
124 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA9142656 rs751454206 |
125 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA9142655 rs780029774 |
125 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs4134822 VAR_016248 CA9142652 |
126 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen UniProt ExAC NCI-TCGA dbSNP gnomAD |
|
rs753435180 CA9142650 |
128 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA9142651 rs756929913 |
128 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403152181 rs760230977 |
129 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760230977 CA9142648 |
129 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763601327 CA9142649 |
129 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA9142647 rs1301996201 |
130 | R>C | No |
ClinGen gnomAD |
|
|
rs768043637 CA9142645 |
130 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9142644 rs759854187 |
131 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1256223113 CA403152172 |
131 | R>L | No |
ClinGen TOPMed |
|
|
rs774883812 CA9142643 |
132 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs771372979 CA9142642 |
132 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA9142640 rs773500114 |
134 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9142639 rs769825384 |
135 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1182734293 CA403152150 |
135 | R>H | No |
ClinGen gnomAD |
|
|
rs779897427 CA9142637 |
136 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758391750 CA9142636 |
136 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA9142635 rs745761079 COSM50586 |
138 | R>W | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA9142630 rs755625027 |
142 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752216241 CA9142629 |
143 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1327306523 CA403152101 |
144 | Q>R | No |
ClinGen TOPMed |
|
|
CA403152090 rs1568455657 |
145 | H>Q | No |
ClinGen Ensembl |
|
|
rs143346745 CA403152082 |
147 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201040075 CA403152080 |
147 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA9142625 rs201040075 |
147 | R>Q | Variant assessed as Somatic; 4.705e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed |
| TCGA novel | 149 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403152060 rs1356679686 |
150 | P>H | No |
ClinGen gnomAD |
|
|
CA9142622 rs770027710 |
152 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748279403 CA9142621 |
154 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304897443 COSM1232896 rs527655130 |
154 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA403152031 rs1568455638 |
155 | F>C | No |
ClinGen Ensembl |
|
|
rs148694952 CA9142620 |
157 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9142619 rs768565509 COSM1397637 |
157 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs148694952 CA403152023 |
157 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9142618 rs745814167 |
158 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304897440 rs377180827 |
158 | S>P | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1206316376 CA403152008 |
159 | H>Q | No |
ClinGen gnomAD |
|
|
rs1487216713 CA403152003 |
160 | P>Q | No |
ClinGen gnomAD |
|
|
CA9142616 rs144183319 |
162 | P>S | No |
ClinGen ESP ExAC |
|
|
CA403151978 rs1221807501 |
164 | T>I | No |
ClinGen gnomAD |
|
|
COSM3389514 rs1295064916 CA403151964 |
167 | R>* | pancreas Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1295064916 CA403151965 |
167 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs777328040 CA9142614 |
167 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9142613 rs755818667 |
168 | G>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 168 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9142612 rs752238216 |
170 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA403151947 rs1297628410 |
170 | R>W | No |
ClinGen gnomAD |
|
|
rs369196263 CA9142610 |
171 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1426745892 CA403151941 |
171 | R>P | No |
ClinGen gnomAD |
|
|
rs1368975079 CA403151936 |
172 | F>Y | No |
ClinGen gnomAD |
|
|
CA403151892 rs1332539699 |
177 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 178 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA304896848 rs1031069248 |
178 | E>Q | No |
ClinGen Ensembl |
|
|
rs1179186302 CA403151877 |
179 | S>C | No |
ClinGen gnomAD |
|
|
CA9142575 rs746611879 |
182 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1470282215 CA403151848 |
183 | Y>D | No |
ClinGen gnomAD |
|
|
rs757918046 CA9142573 |
184 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403151841 rs1328998741 |
184 | I>V | No |
ClinGen TOPMed |
|
|
CA403151835 rs1441631059 |
185 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs371295329 CA9142571 COSM1240666 |
186 | Y>C | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs371295329 CA403151824 |
186 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147350504 CA9142570 |
188 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1267532005 CA403151805 |
189 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1599373514 CA403151795 |
190 | S>R | No |
ClinGen Ensembl |
|
|
CA403151793 rs1353031096 |
191 | D>H | No |
ClinGen gnomAD |
|
|
CA403151786 rs754117673 |
192 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370819469 CA304896820 |
192 | R>Q | No |
ClinGen ESP TOPMed |
|
|
CA9142569 rs754117673 |
192 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9142566 rs138706386 |
197 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138706386 CA9142565 |
197 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 197 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403151742 rs1420365640 COSM3693218 |
199 | R>C | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs759530793 CA9142564 |
199 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs773257588 CA9142563 |
201 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs866447848 CA304896797 COSM1397636 |
203 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs141060900 CA9142560 |
206 | D>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs564137682 CA403151704 |
206 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs564137682 CA9142561 |
206 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA403151690 rs1247345573 |
208 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs191550276 COSM3836157 CA9142558 |
208 | R>H | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA9142556 rs368216104 |
209 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149004243 CA9142554 |
210 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9142553 rs149004243 |
210 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA403151660 rs1599373455 |
213 | A>T | No |
ClinGen Ensembl |
|
|
rs866391225 CA403151654 |
214 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
COSM569007 rs866391225 CA304896776 |
214 | G>S | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA403151647 rs1599373451 |
215 | K>E | No |
ClinGen Ensembl |
|
|
rs1599373449 CA403151641 |
215 | K>R | No |
ClinGen Ensembl |
|
|
rs756400992 CA9142550 |
217 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1486147153 CA403151617 |
217 | N>S | No |
ClinGen TOPMed |
|
|
CA9142549 rs752983042 |
218 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA403151511 rs1304072904 |
223 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9142525 rs753888128 |
226 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1599373360 CA403151341 |
228 | I>T | No |
ClinGen Ensembl |
|
|
rs760589388 CA9142523 |
232 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 232 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403151227 rs1207079323 |
237 | S>C | No |
ClinGen gnomAD |
|
|
rs981621588 CA304896686 |
239 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA403151195 rs1323589242 |
240 | V>M | No |
ClinGen gnomAD |
|
|
CA9142520 rs201591924 |
241 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1372182545 CA403151169 |
242 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9142518 rs770411201 |
243 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403151142 rs1444117685 |
244 | I>S | No |
ClinGen gnomAD |
|
|
rs762436456 CA9142517 |
245 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1335991765 CA403151133 |
245 | R>H | No |
ClinGen gnomAD |
|
|
CA9142514 rs748613774 |
247 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA403151090 rs1179239082 |
249 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA403151091 rs1179239082 |
249 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA403151081 rs1237313491 |
250 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA9142510 rs371504462 |
250 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403151073 rs1463075210 |
251 | F>L | No |
ClinGen gnomAD |
|
|
CA403151058 rs1264403792 |
252 | T>A | No |
ClinGen gnomAD |
|
|
rs758604080 CA9142509 |
253 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758604080 CA403151049 |
253 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403151022 rs1216111976 |
254 | Q>H | No |
ClinGen TOPMed |
|
|
rs995806409 CA304896665 |
257 | K>R | No |
ClinGen TOPMed |
|
|
CA403150981 rs1376673360 |
258 | L>R | No |
ClinGen gnomAD |
|
|
rs779099614 CA9142507 |
260 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA403150961 rs1408240975 |
260 | C>Y | No |
ClinGen gnomAD |
|
|
rs752621645 CA9142505 |
263 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 263 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9142503 COSM1397635 rs144276604 |
264 | D>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs751227311 CA9142502 |
265 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs202178945 CA304896661 |
265 | Y>H | No |
ClinGen gnomAD |
|
|
rs202178945 CA403150900 |
265 | Y>N | No |
ClinGen gnomAD |
|
|
CA403150871 rs1446908025 |
267 | I>V | No |
ClinGen gnomAD |
|
|
rs766031691 CA9142501 |
268 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA403150860 rs762487798 |
268 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA9142500 rs762487798 |
268 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs766031691 CA403150862 |
268 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1485254171 CA403150856 |
269 | S>G | No |
ClinGen gnomAD |
|
|
rs772738045 CA9142499 |
269 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs762314041 COSM1003318 CA9142497 |
270 | G>S | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs375894030 CA9142496 |
272 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1051386909 CA304896639 |
273 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA304895821 rs953647612 |
275 | A>T | No |
ClinGen Ensembl |
|
|
rs1267615110 CA403150636 |
275 | A>V | No |
ClinGen gnomAD |
|
|
rs779830412 CA9142467 |
276 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403150631 rs1199656845 |
276 | R>W | No |
ClinGen gnomAD |
|
|
CA9142465 rs750135472 |
278 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs758185141 CA304895816 |
278 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758185141 CA9142466 |
278 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304895808 rs188226286 |
280 | E>K | No |
ClinGen 1000Genomes gnomAD |
|
|
rs185366349 CA9142459 |
284 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs554683058 CA9142460 |
284 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1392340172 CA403150515 |
286 | V>M | No |
ClinGen gnomAD |
|
|
rs768057415 CA9142458 |
287 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs535891951 CA9142456 |
289 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9142454 rs771246132 |
290 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA403150466 rs1358573493 |
290 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 291 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403150380 rs1438173833 |
297 | D>H | No |
ClinGen gnomAD |
|
|
CA304895749 rs905681185 |
299 | Y>C | No |
ClinGen gnomAD |
|
|
CA304895780 rs983918632 |
299 | Y>H | No |
ClinGen TOPMed |
|
|
rs747035938 CA9142450 |
300 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA9142449 rs568905612 |
301 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA403150313 rs1170223267 |
302 | F>I | No |
ClinGen TOPMed |
|
|
rs61761630 CA9142447 |
303 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 304 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9142446 rs778642292 |
306 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs756961080 CA9142445 |
307 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs777337486 CA9142443 |
308 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777337486 CA304895682 |
308 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755570456 CA9142442 |
308 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs753312004 CA9142441 |
309 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs768112734 CA9142440 |
311 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs766603709 CA9142437 |
314 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9142436 rs763248298 |
315 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403150144 rs763248298 |
315 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1313677748 CA403150127 |
316 | E>D | No |
ClinGen TOPMed |
|
|
rs769974426 CA9142434 |
318 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs546488334 CA9142432 |
319 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs772031695 CA9142431 |
319 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1205900277 CA403150092 |
320 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1289968515 CA403150051 |
322 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA403149194 rs1376987481 |
323 | D>E | No |
ClinGen TOPMed |
|
|
rs1164793145 CA403149200 |
323 | D>G | No |
ClinGen gnomAD |
|
|
rs1245701125 CA403150046 |
323 | D>N | No |
ClinGen gnomAD |
|
|
rs780404121 CA9142402 |
325 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403149157 rs961181815 |
326 | D>E | No |
ClinGen TOPMed |
|
|
rs1437692388 CA403149116 |
330 | R>C | No |
ClinGen gnomAD |
|
|
CA9142401 rs758839571 |
330 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1265331057 CA403149096 |
332 | A>T | No |
ClinGen TOPMed |
|
|
rs1319363395 CA403149088 |
332 | A>V | No |
ClinGen gnomAD |
|
|
rs765590538 CA9142399 |
333 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1203513572 CA403149073 |
333 | R>H | No |
ClinGen TOPMed |
|
|
rs1052448392 CA304893851 |
335 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1294998822 CA403149004 |
336 | Q>* | No |
ClinGen gnomAD |
|
|
rs753996034 CA9142397 |
339 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA304893828 rs375947219 |
340 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs375947219 CA9142395 |
340 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs369075566 CA9142396 |
340 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs766192482 CA9142393 |
341 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9142394 rs774391158 |
341 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1201349533 CA403148867 |
342 | P>L | No |
ClinGen TOPMed |
|
|
rs1049870147 CA304893783 |
344 | L>F | No |
ClinGen TOPMed |
|
|
rs1175774968 CA403148822 |
345 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA403148801 rs1568454377 |
346 | N>Y | No |
ClinGen Ensembl |
|
|
rs772903262 CA9142391 |
347 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs776418935 CA9142388 |
348 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs756451482 CA9142389 |
348 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA403148689 rs1302937858 |
351 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA403148685 rs1455444951 COSM1397633 |
351 | R>H | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs758852611 CA9142384 |
353 | N>S | No |
ClinGen ExAC gnomAD |
|
|
COSM713899 CA403148611 rs1372303491 |
354 | P>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs746330404 CA9142383 |
355 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA403148560 rs779154290 |
356 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9142381 rs370229927 |
357 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1470344224 CA403148495 |
359 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA403148450 rs1157169560 |
360 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA403148389 rs1568454345 |
363 | R>C | No |
ClinGen Ensembl |
|
|
rs764275974 CA9142379 |
363 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9142376 rs767583337 |
365 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs375722248 CA9142377 |
365 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1184812617 CA403148302 |
367 | H>R | No |
ClinGen gnomAD |
|
|
rs1213160991 CA403148267 |
368 | Q>H | No |
ClinGen gnomAD |
|
|
rs1461359487 CA403148290 |
368 | Q>K | No |
ClinGen gnomAD |
|
|
CA9142374 rs750307928 |
368 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1315992810 CA403148263 |
369 | G>S | No |
ClinGen gnomAD |
|
|
CA9142373 rs765190487 |
370 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9142372 rs142735881 |
370 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403148245 rs765190487 |
370 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145651104 CA9142371 |
371 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs145651104 CA9142370 |
371 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs992720241 CA304893727 |
371 | P>S | No |
ClinGen TOPMed |
|
|
rs774879250 CA9142368 |
372 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs760328969 CA9142369 |
372 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1172265181 CA403147956 |
376 | N>S | No |
ClinGen gnomAD |
|
|
CA304893439 rs377502511 |
377 | T>S | No |
ClinGen ESP |
|
|
CA9142347 rs759059977 |
378 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403147906 rs759059977 |
378 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774874562 CA9142346 |
379 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 380 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9142345 rs185147351 |
381 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 382 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369157151 CA9142344 |
384 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs904675976 CA304893426 |
385 | V>A | No |
ClinGen Ensembl |
|
|
rs778121446 CA9142343 |
385 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770127782 CA9142342 |
388 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA9142341 rs748385402 |
389 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9142340 rs781463017 |
390 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs866455461 CA304893418 |
394 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1172225295 CA403147553 |
395 | H>Y | No |
ClinGen gnomAD |
|
|
rs1233940326 CA403147523 |
396 | T>S | No |
ClinGen TOPMed |
|
|
rs1191413256 CA403147458 |
400 | A>T | No |
ClinGen gnomAD |
|
|
CA9142339 rs755052759 |
400 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs780234078 CA9142337 |
401 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA403147410 rs1268270317 |
402 | A>S | No |
ClinGen gnomAD |
|
|
CA304893401 rs758112230 |
404 | F>L | No |
ClinGen Ensembl |
|
|
rs753764753 CA9142335 |
406 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9142333 rs755927489 |
409 | G>A | No |
ClinGen ExAC gnomAD |
|
|
COSM475478 CA403147228 rs1487658576 |
409 | G>R | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
COSM1527490 rs773869873 CA9142329 |
413 | D>N | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA304893041 rs956609160 |
414 | A>V | No |
ClinGen Ensembl |
|
|
CA9142302 rs772323494 |
415 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1290081390 CA403146927 |
415 | R>H | No |
ClinGen gnomAD |
|
|
CA304893025 rs979468107 |
416 | V>G | No |
ClinGen Ensembl |
|
|
rs1374200879 CA403146858 |
419 | E>K | No |
ClinGen TOPMed |
|
|
CA403146805 rs1247659286 |
421 | A>V | No |
ClinGen TOPMed |
|
|
CA9142298 rs747980944 |
427 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs756103575 CA9142299 |
427 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA9142297 rs781048584 |
428 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs754765059 CA9142296 |
429 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs35275272 CA9142295 |
430 | D>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 432 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757943883 CA9142293 |
435 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757943883 CA9142294 |
435 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9142292 rs749957093 |
437 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA403146386 rs200503896 |
438 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1271011699 CA403146393 |
438 | Q>R | No |
ClinGen gnomAD |
|
|
rs1474453662 CA403146351 |
440 | G>R | No |
ClinGen gnomAD |
|
|
CA9142289 rs754293501 |
443 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs764575454 CA9142288 |
445 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1397629 CA9142287 rs761096497 |
445 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1568453869 CA403146182 |
447 | E>D | No |
ClinGen Ensembl |
|
|
CA9142285 rs113439333 |
447 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9142283 rs774506749 |
450 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1277054671 CA403146058 |
452 | A>G | No |
ClinGen gnomAD |
|
|
VAR_016249 rs4134850 CA9142280 |
454 | R>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs748186146 CA9142281 |
454 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304892877 rs887150382 |
457 | R>* | No |
ClinGen Ensembl |
|
|
rs768490187 CA9142279 |
457 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9142255 rs745590422 |
459 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA9142254 rs202185001 |
460 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9142253 rs756828466 |
460 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367588563 CA304892733 |
461 | A>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA403145758 rs1221856179 |
463 | P>A | No |
ClinGen gnomAD |
|
|
rs1352788499 CA403145742 |
464 | A>S | No |
ClinGen gnomAD |
|
|
rs753191949 CA9142249 |
465 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9142248 rs768063743 |
465 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753191949 CA403145724 |
465 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751858789 CA9142246 |
466 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9142247 rs755285831 |
466 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403145697 rs1479252495 |
467 | A>T | No |
ClinGen TOPMed |
|
|
CA9142244 rs763194560 |
467 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs760670223 CA9142241 |
468 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA9142242 rs780551945 |
468 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs771900837 CA9142240 |
471 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs771900837 CA9142239 |
471 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA403145573 rs1443348555 |
472 | G>S | No |
ClinGen gnomAD |
|
|
rs1382787666 CA403145543 |
473 | S>L | No |
ClinGen gnomAD |
|
|
CA403145539 rs1180775649 |
474 | E>Q | No |
ClinGen gnomAD |
|
|
rs745616360 CA9142238 |
475 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9142236 rs770507484 |
476 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs374573016 CA9142234 |
479 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs573591781 CA9142233 |
479 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1599371188 CA403145399 |
480 | V>A | No |
ClinGen Ensembl |
|
|
CA9142231 rs781759522 |
480 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403145378 rs1437055073 |
481 | Y>C | No |
ClinGen TOPMed |
|
|
rs1399657984 CA403145302 |
484 | L>P | No |
ClinGen gnomAD |
|
|
CA403145191 rs1368394076 |
489 | M>T | No |
ClinGen gnomAD |
|
| TCGA novel | 490 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765358302 CA403145174 |
490 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs765358302 CA9142225 |
490 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA403145158 rs776729823 |
491 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9142224 COSM307718 rs776729823 |
491 | A>T | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs767383611 CA9142222 |
492 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA403145125 rs1263562058 |
493 | L>V | No |
ClinGen gnomAD |
|
|
CA9142221 rs759465285 |
494 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA403145075 rs1489818523 |
496 | S>R | No |
ClinGen gnomAD |
|
|
CA9142220 rs578001435 |
497 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9142219 rs578001435 |
497 | L>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 498 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772988580 CA9142217 COSM1232893 |
498 | G>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs769479629 CA403145027 |
500 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs747631845 CA9142215 |
501 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA9142197 rs533107326 |
502 | S>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9142195 rs781460258 |
506 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772361220 CA9142192 |
508 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs377194001 CA304892518 |
509 | R>C | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
rs746259404 CA9142191 |
509 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1177992095 CA403144914 |
511 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 512 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1198896907 CA403144897 |
514 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs139001512 CA9142188 |
514 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs542881981 CA9142187 |
515 | I>V | No |
ClinGen ExAC TOPMed |
|
|
CA9142185 rs200271935 |
516 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1315567841 CA403144882 |
517 | T>A | No |
ClinGen gnomAD |
|
|
CA9142184 rs766310140 |
517 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1376946661 CA403144870 |
519 | Q>* | No |
ClinGen gnomAD |
|
|
CA9142182 rs750266466 |
519 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765067758 CA9142181 |
520 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1467368247 CA403144855 |
521 | V>G | No |
ClinGen gnomAD |
|
|
CA9142179 rs377233228 COSM1270554 |
521 | V>I | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1599371036 CA403144852 |
522 | I>F | No |
ClinGen Ensembl |
|
|
CA304892484 rs982987230 |
523 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA403144844 rs982987230 |
523 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
rs763560124 CA9142178 |
524 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs760200366 CA9142177 |
525 | A>T | No |
ClinGen ExAC gnomAD |
|
|
COSM3404779 rs374151176 CA9142175 |
526 | M>T | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
rs1305212431 CA403144827 |
526 | M>V | No |
ClinGen TOPMed |
|
|
CA304892470 rs186801267 |
527 | F>L | No |
ClinGen 1000Genomes |
|
|
rs1257111617 CA403144808 |
529 | E>K | No |
ClinGen gnomAD |
|
|
CA304892459 rs1027101636 |
530 | E>G | No |
ClinGen Ensembl |
|
|
rs951614709 CA304892464 |
530 | E>K | No |
ClinGen Ensembl |
|
|
CA403144790 rs1202454082 |
531 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 533 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403144774 rs1399845451 |
533 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs774698695 CA403144763 |
534 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9142172 rs771285319 |
536 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs749535341 CA403144747 |
537 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs749535341 CA9142171 |
537 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1194712294 CA403144331 |
540 | A>G | No |
ClinGen gnomAD |
|
|
rs1194712294 CA403144328 |
540 | A>V | No |
ClinGen gnomAD |
|
|
CA403144309 rs1213088798 |
542 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA9142140 rs201307127 |
543 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370606624 CA9142139 |
543 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403144274 rs1315592584 |
544 | G>A | No |
ClinGen gnomAD |
|
|
rs185125117 CA9142136 |
544 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 545 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1211352398 CA403144270 |
545 | I>V | No |
ClinGen gnomAD |
|
|
rs759028786 CA9142135 |
546 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs766905796 CA9142133 |
547 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763321128 CA9142132 |
548 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1214319272 CA403144239 |
548 | F>L | No |
ClinGen gnomAD |
|
|
rs773642138 CA9142131 |
550 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs769987423 CA9142129 |
551 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769987423 CA304891571 |
551 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9142128 rs762162378 |
552 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs772996259 CA304891552 |
553 | V>M | No |
ClinGen Ensembl |
|
|
rs1276994914 CA403144146 |
555 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1276994914 CA403144144 |
555 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA9142126 rs768897087 |
556 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA9142125 rs747114840 |
558 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs780231946 CA9142124 |
559 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403144078 rs1599370473 |
559 | T>I | No |
ClinGen Ensembl |
|
|
CA304891525 rs954362025 |
561 | L>V | No |
ClinGen Ensembl |
|
|
CA403144020 rs1478593995 |
565 | I>V | No |
ClinGen gnomAD |
|
|
rs145004107 CA9142123 |
566 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9142122 rs377540607 |
567 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs777686042 CA9142121 |
567 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA403143978 rs1308892088 |
568 | Y>C | No |
ClinGen gnomAD |
|
|
CA403143983 rs1198838188 |
568 | Y>N | No |
ClinGen gnomAD |
|
| TCGA novel | 570 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9142117 rs141253734 |
571 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373454646 CA9142116 |
571 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9142113 rs750891344 |
575 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9142114 rs763520881 |
575 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs765681118 CA9142112 |
576 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA304891507 rs893224513 COSM1003315 |
577 | R>W | large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs777095731 CA9142110 |
580 | F>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 580 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 581 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9142109 rs769021761 |
582 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1599370443 CA403143786 |
583 | A>V | No |
ClinGen Ensembl |
|
|
rs760918480 CA9142108 |
585 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs772038262 CA9142106 |
586 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403143729 rs1379079948 |
588 | P>S | No |
ClinGen gnomAD |
|
|
rs1475141835 CA403143717 |
589 | P>S | No |
ClinGen TOPMed |
|
|
rs777552512 CA9142104 |
591 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1178725077 | 591 | Y>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1252056289 CA403143666 |
593 | K>E | No |
ClinGen gnomAD |
|
|
CA403143652 rs1209051267 |
594 | T>A | No |
ClinGen gnomAD |
|
|
rs201771835 CA9142068 COSM1232891 |
600 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1046790415 CA304891413 |
604 | E>D | No |
ClinGen Ensembl |
|
|
CA304891405 rs929247855 |
605 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1337100548 CA403143408 |
607 | G>D | No |
ClinGen gnomAD |
|
|
rs753007110 CA9142067 |
609 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1564933 CA9142065 rs759759087 |
610 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA403143380 rs1318993253 |
610 | R>W | No |
ClinGen gnomAD |
|
|
rs1367502478 CA403143346 |
612 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1281587712 CA403143329 |
613 | M>I | No |
ClinGen TOPMed |
|
|
CA9142062 rs761806457 |
615 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776538165 CA403143290 |
616 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9142060 rs768490377 |
617 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs768490377 CA403143287 |
617 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs372938565 CA9142059 |
617 | E>V | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1373363959 CA403143271 |
618 | R>C | No |
ClinGen gnomAD |
|
|
CA403143272 rs1373363959 |
618 | R>G | No |
ClinGen gnomAD |
|
|
CA9142058 rs372229800 |
618 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9142055 rs778350602 |
622 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1236470906 CA403143207 |
623 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 626 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1458397409 CA403143170 |
626 | A>T | No |
ClinGen gnomAD |
|
|
rs756652870 CA9142051 |
627 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304891364 rs111756407 |
628 | Q>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs111756407 CA9142050 |
628 | Q>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9142048 rs755163244 |
629 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs781567174 CA9142049 |
629 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1328688865 CA403143108 |
630 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA403143103 rs1445503723 |
631 | M>L | No |
ClinGen gnomAD |
|
|
CA403143022 rs1156809536 |
636 | I>V | No |
ClinGen TOPMed |
|
|
CA9142045 rs371435943 |
638 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376028696 CA9142046 |
638 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
|
rs368990102 CA9142044 |
639 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9142042 rs760603022 |
640 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA9142040 rs372715698 |
641 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs759164788 CA9142039 |
643 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1352165184 CA403142940 |
649 | R>C | No |
ClinGen gnomAD |
|
|
rs375585367 CA9142038 |
649 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA304891341 rs867363027 |
650 | G>D | No |
ClinGen Ensembl |
|
|
rs770602341 CA9142037 |
650 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1335871262 CA403142922 |
652 | Y>C | No |
ClinGen gnomAD |
|
|
CA9142036 rs748841899 |
653 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1401153340 CA403142910 |
654 | K>E | No |
ClinGen gnomAD |
|
|
CA9142035 rs777372042 |
656 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA304891334 rs770442673 |
657 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747448382 CA9141996 |
660 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1354746181 CA403142859 |
660 | S>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 661 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9141993 rs746134402 |
662 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403142844 rs1168841877 |
662 | E>V | No |
ClinGen gnomAD |
|
|
rs779071845 CA9141992 |
663 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA403142834 rs1198837871 |
664 | A>T | No |
ClinGen gnomAD |
|
|
CA403142829 rs1467600531 |
664 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1215103999 CA403142826 |
665 | R>C | No |
ClinGen gnomAD |
|
|
rs749405940 CA9141990 |
665 | R>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 666 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403142809 rs1214934440 |
667 | M>I | No |
ClinGen gnomAD |
|
|
CA403142813 rs1568452991 |
667 | M>L | No |
ClinGen Ensembl |
|
|
rs1341255623 CA403142805 |
668 | C>R | No |
ClinGen gnomAD |
|
|
CA9141988 rs754951302 |
670 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs777658848 CA9141989 |
670 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9141987 rs202100262 |
671 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1254184335 CA403142765 |
674 | M>T | No |
ClinGen TOPMed |
|
|
CA403142750 rs1207000405 |
676 | C>G | No |
ClinGen TOPMed |
|
|
CA403142737 rs1329843265 |
677 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1400545894 CA403142730 |
679 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1400545894 CA403142728 |
679 | G>W | No |
ClinGen gnomAD |
|
|
CA9141983 rs201877455 |
683 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403142699 rs1395100753 |
683 | R>H | No |
ClinGen gnomAD |
|
|
CA403142700 rs201877455 |
683 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9141982 rs779224839 |
684 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403142692 rs1231920156 |
684 | A>V | No |
ClinGen gnomAD |
|
|
CA403142689 rs1204833467 |
685 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA304891235 rs994199794 |
685 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA403142682 COSM1711705 rs1568452963 |
686 | A>V | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA9141980 rs776207900 |
687 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs763507107 CA9141979 |
688 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403142667 rs1383702749 |
689 | S>G | No |
ClinGen TOPMed |
|
|
rs1367069686 CA403142648 |
691 | C>Y | No |
ClinGen Ensembl |
|
|
rs746259500 CA9141975 |
698 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9141935 rs773587070 |
699 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs770164799 CA9141934 |
699 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA403142568 rs1214476514 |
702 | A>E | No |
ClinGen gnomAD |
|
|
CA9141930 rs4134865 |
702 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs4134865 CA9141929 VAR_016250 |
702 | A>T | Variant assessed as Somatic; 5.141e-05 impact. [NCI-TCGA] | No |
ClinGen UniProt 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA403142566 rs1214476514 |
702 | A>V | No |
ClinGen gnomAD |
|
|
CA403142544 rs1162326011 |
705 | Q>R | No |
ClinGen TOPMed |
|
|
CA9141927 rs117645581 |
706 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA403142539 rs1256477507 |
706 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA403142536 rs117645581 |
706 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA403142532 rs1599369943 |
707 | W>* | No |
ClinGen Ensembl |
|
|
rs1298308378 CA403142511 |
709 | D>E | No |
ClinGen gnomAD |
|
|
rs753963390 CA304891146 |
710 | F>S | No |
ClinGen Ensembl |
|
|
CA403142492 rs1368065821 |
712 | V>A | No |
ClinGen gnomAD |
|
|
CA9141925 rs755765150 |
712 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA9141923 rs780740847 |
713 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747797751 COSM713900 CA9141924 |
713 | R>W | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 714 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA304891123 rs1006150405 |
715 | G>D | No |
ClinGen gnomAD |
|
|
rs201472859 CA9141922 |
716 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1599369921 CA403142440 |
720 | I>T | No |
ClinGen Ensembl |
|
| TCGA novel | 724 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1172390671 CA403142410 |
724 | L>P | No |
ClinGen gnomAD |
|
|
CA304891115 rs867141581 |
725 | R>C | No |
ClinGen TOPMed |
|
|
CA403142406 rs1452503651 |
725 | R>H | No |
ClinGen gnomAD |
|
|
rs533669424 CA9141920 |
726 | I>F | No |
ClinGen 1000Genomes ExAC |
|
|
rs533669424 CA304891112 |
726 | I>V | No |
ClinGen 1000Genomes ExAC |
|
|
CA304891109 rs1038509299 |
727 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1394491561 CA403142397 |
727 | R>W | No |
ClinGen gnomAD |
|
|
rs1309446768 CA403142392 |
728 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA304891107 rs997388410 |
728 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA304891103 rs12610830 |
729 | S>I | No |
ClinGen Ensembl |
|
|
CA403142378 rs1253453643 |
730 | V>E | No |
ClinGen gnomAD |
|
|
rs189477293 CA9141917 |
730 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs762181946 CA9141915 |
733 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA403142297 rs1213722069 |
742 | A>T | No |
ClinGen TOPMed |
|
|
rs1304347185 CA403142286 |
743 | S>L | Variant assessed as Somatic; 0.0002327 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA403142283 rs1258808226 |
744 | Q>* | No |
ClinGen TOPMed |
|
|
CA403142254 rs1482649422 |
748 | V>I | No |
ClinGen TOPMed |
|
|
CA304891085 rs892856536 |
750 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs369409872 CA9141908 |
753 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9141907 rs144491789 |
755 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs780791857 CA9141905 |
756 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304890966 rs972726121 |
757 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1467743596 CA403142176 |
759 | L>V | No |
ClinGen gnomAD |
|
|
CA403142167 rs1211383406 |
760 | A>V | No |
ClinGen gnomAD |
|
|
rs1164063630 CA403142161 |
761 | P>L | No |
ClinGen TOPMed |
|
|
rs1337258165 CA403142166 |
761 | P>S | No |
ClinGen gnomAD |
|
|
rs759582521 CA9141872 |
762 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs751598908 CA9141871 |
766 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs373327376 CA403142118 |
767 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403142121 rs1568452640 |
767 | D>G | No |
ClinGen Ensembl |
|
|
rs761683993 CA9141869 |
768 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304890939 rs868307678 |
773 | E>A | No |
ClinGen Ensembl |
|
| TCGA novel | 773 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1371532670 CA403142074 |
774 | Q>* | No |
ClinGen TOPMed |
|
|
rs867673212 CA304890937 |
775 | R>L | No |
ClinGen gnomAD |
|
|
rs867673212 CA403142066 |
775 | R>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 776 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1396271206 CA403142050 |
777 | E>D | No |
ClinGen gnomAD |
|
|
rs760291429 CA9141866 |
779 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA403142034 rs368694532 |
780 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403142036 rs1409787480 |
780 | A>T | No |
ClinGen TOPMed |
|
|
rs368694532 CA9141865 |
780 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403142016 rs762306239 |
783 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs745389101 CA9141863 |
783 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA304890928 rs762306239 |
783 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA403142011 rs1438314787 |
784 | E>A | No |
ClinGen gnomAD |
|
|
CA9141860 rs775210977 |
785 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9141861 rs775210977 |
785 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1272028252 CA403142005 |
785 | R>H | No |
ClinGen gnomAD |
|
|
rs752904390 CA9141857 |
788 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA403141982 rs752904390 |
788 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs781509959 CA9141856 |
789 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA9141855 rs140344688 |
790 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403141974 rs140344688 |
790 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs901446128 CA304890909 |
790 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
COSM1397626 rs376467012 CA9141854 |
791 | A>T | Variant assessed as Somatic; 4.847e-05 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs766382249 CA9141853 |
792 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs753803302 CA9141851 |
793 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1173617082 CA403141948 |
794 | K>R | No |
ClinGen gnomAD |
|
|
CA403141923 CA403141924 rs760547666 |
798 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9141849 rs760547666 |
798 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748540819 CA9141822 COSM1232892 |
802 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA403141055 rs1382464340 |
803 | S>C | No |
ClinGen gnomAD |
|
|
CA9141821 rs373115604 |
803 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403141040 rs1163947449 |
804 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA304888642 rs867882181 |
804 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs780282787 CA9141818 |
809 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747283014 CA9141819 |
809 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs756142550 CA9141814 |
817 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1362167484 CA403140795 |
817 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1206901698 CA403140753 |
819 | I>M | No |
ClinGen TOPMed |
|
|
rs1323928278 CA403140759 |
819 | I>V | No |
ClinGen gnomAD |
|
|
CA403140739 rs752563124 |
820 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1476155316 CA403140733 |
821 | L>V | No |
ClinGen gnomAD |
|
|
CA403140727 rs1360595312 |
822 | G>D | No |
ClinGen gnomAD |
|
|
rs781181034 CA9141812 |
822 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA403140712 rs1484476852 |
823 | E>G | No |
ClinGen gnomAD |
|
|
rs751362505 CA9141810 |
823 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA304888591 rs887945394 |
824 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA304888584 rs932077127 COSM1751263 |
825 | E>K | urinary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs932077127 CA403140679 |
825 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA9141807 rs762455723 |
826 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA403140643 rs1454922851 |
827 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs764653754 CA9141805 |
828 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA9141803 rs777104578 |
829 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA9141801 rs1327493247 |
830 | M>V | No |
ClinGen TOPMed |
|
|
rs1422697587 CA403140554 |
831 | D>G | No |
ClinGen Ensembl |
|
| TCGA novel | 831 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403140481 rs148416638 |
835 | N>K | No |
ClinGen ESP gnomAD |
|
|
CA304888562 rs200577717 |
836 | E>K | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1473102176 CA403140395 |
837 | V>I | No |
ClinGen gnomAD |
|
|
rs144798612 CA9141766 |
838 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144798612 CA9141765 |
838 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9141767 rs574958927 |
838 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs78619637 CA304888459 |
839 | L>R | No |
ClinGen Ensembl |
|
|
CA9141763 rs756670916 |
840 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA403140318 rs1258531849 |
842 | Q>R | No |
ClinGen gnomAD |
|
|
CA9141759 rs774729857 |
844 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA9141758 rs766525949 |
846 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766525949 CA403140265 |
846 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1481786819 CA403140240 |
847 | A>E | No |
ClinGen TOPMed |
|
|
rs538580383 CA9141756 |
847 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9141755 rs769984282 |
848 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs775262544 CA9141753 |
849 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs745659658 CA9141751 |
851 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403140145 rs1336082959 |
853 | K>R | No |
ClinGen gnomAD |
|
|
CA403140132 rs1369526726 |
854 | E>K | No |
ClinGen gnomAD |
|
|
rs1190250306 CA403140112 |
855 | D>N | No |
ClinGen gnomAD |
No associated diseases with Q9HCS7
14 regional properties for Q9HCS7
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | HAT (Half-A-TPR) repeat | 48 - 80 | IPR003107-1 |
| repeat | HAT (Half-A-TPR) repeat | 93 - 122 | IPR003107-2 |
| repeat | HAT (Half-A-TPR) repeat | 124 - 158 | IPR003107-3 |
| repeat | HAT (Half-A-TPR) repeat | 270 - 305 | IPR003107-4 |
| repeat | HAT (Half-A-TPR) repeat | 409 - 445 | IPR003107-5 |
| repeat | HAT (Half-A-TPR) repeat | 447 - 496 | IPR003107-6 |
| repeat | HAT (Half-A-TPR) repeat | 498 - 530 | IPR003107-7 |
| repeat | HAT (Half-A-TPR) repeat | 532 - 566 | IPR003107-8 |
| repeat | HAT (Half-A-TPR) repeat | 571 - 605 | IPR003107-9 |
| repeat | HAT (Half-A-TPR) repeat | 607 - 641 | IPR003107-10 |
| repeat | HAT (Half-A-TPR) repeat | 679 - 713 | IPR003107-11 |
| repeat | Tetratricopeptide repeat | 256 - 289 | IPR019734-1 |
| repeat | Tetratricopeptide repeat | 395 - 428 | IPR019734-2 |
| repeat | Tetratricopeptide repeat | 433 - 466 | IPR019734-3 |
8 GO annotations of cellular component
| Name | Definition |
|---|---|
| catalytic step 2 spliceosome | A spliceosomal complex that contains three snRNPs, including U5, bound to a splicing intermediate in which the first catalytic cleavage of the 5' splice site has occurred. The precise subunit composition differs significantly from that of the catalytic step 1, or activated, spliceosome, and includes many proteins in addition to those found in the associated snRNPs. |
| intracellular membrane-bounded organelle | Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| 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. |
| post-mRNA release spliceosomal complex | A spliceosomal complex that is formed following the release of the spliced product from the post-spliceosomal complex and contains the excised intron and three snRNPs, including U5. |
| Prp19 complex | A protein complex consisting of Prp19 and associated proteins that is involved in the transition from the precatalytic spliceosome to the activated form that catalyzes step 1 of splicing, and which remains associated with the spliceosome through the second catalytic step. It is widely conserved, found in both yeast and mammals, though the exact composition varies. In S. cerevisiae, it contains Prp19p, Ntc20p, Snt309p, Isy1p, Syf2p, Cwc2p, Prp46p, Clf1p, Cef1p, and Syf1p. |
| U2-type catalytic step 2 spliceosome | A spliceosomal complex that contains the U2, U5 and U6 snRNPs bound to a splicing intermediate in which the first catalytic cleavage of the 5' splice site has occurred. The precise subunit composition differs significantly from that of the catalytic step 1, or activated, spliceosome, and includes many proteins in addition to those found in the U2, U5 and U6 snRNPs. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| blastocyst development | The process whose specific outcome is the progression of the blastocyst over time, from its formation to the mature structure. The mammalian blastocyst is a hollow ball of cells containing two cell types, the inner cell mass and the trophectoderm. |
| cerebral cortex development | The progression of the cerebral cortex over time from its initial formation until its mature state. The cerebral cortex is the outer layered region of the telencephalon. |
| DNA-templated transcription | The synthesis of an RNA transcript from a DNA template. |
| generation of catalytic spliceosome for first transesterification step | Formation of a catalytic spliceosome complex ready to perform the first splicing reaction. This occurs by an ATP-dependent conformational change of the pre-catalytic spliceosome. |
| mRNA splicing, via spliceosome | The joining together of exons from one or more primary transcripts of messenger RNA (mRNA) and the excision of intron sequences, via a spliceosomal mechanism, so that mRNA consisting only of the joined exons is produced. |
| transcription-coupled nucleotide-excision repair | The nucleotide-excision repair process that carries out preferential repair of DNA lesions on the actively transcribed strand of the DNA duplex. In addition, the transcription-coupled nucleotide-excision repair pathway is required for the recognition and repair of a small subset of lesions that are not recognized by the global genome nucleotide excision repair pathway. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q04048 | SYF1 | Pre-mRNA-splicing factor SYF1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| O94906 | PRPF6 | Pre-mRNA-processing factor 6 | Homo sapiens (Human) | PR |
| Q9BZJ0 | CRNKL1 | Crooked neck-like protein 1 | Homo sapiens (Human) | PR |
| Q9DCD2 | Xab2 | Pre-mRNA-splicing factor SYF1 | Mus musculus (Mouse) | PR |
| Q99PK0 | Xab2 | Pre-mRNA-splicing factor SYF1 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MVVMARLSRP | ERPDLVFEEE | DLPYEEEIMR | NQFSVKCWLR | YIEFKQGAPK | PRLNQLYERA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LKLLPCSYKL | WYRYLKARRA | QVKHRCVTDP | AYEDVNNCHE | RAFVFMHKMP | RLWLDYCQFL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| MDQGRVTHTR | RTFDRALRAL | PITQHSRIWP | LYLRFLRSHP | LPETAVRGYR | RFLKLSPESA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EEYIEYLKSS | DRLDEAAQRL | ATVVNDERFV | SKAGKSNYQL | WHELCDLISQ | NPDKVQSLNV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DAIIRGGLTR | FTDQLGKLWC | SLADYYIRSG | HFEKARDVYE | EAIRTVMTVR | DFTQVFDSYA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QFEESMIAAK | METASELGRE | EEDDVDLELR | LARFEQLISR | RPLLLNSVLL | RQNPHHVHEW |
| 370 | 380 | 390 | 400 | 410 | 420 |
| HKRVALHQGR | PREIINTYTE | AVQTVDPFKA | TGKPHTLWVA | FAKFYEDNGQ | LDDARVILEK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ATKVNFKQVD | DLASVWCQCG | ELELRHENYD | EALRLLRKAT | ALPARRAEYF | DGSEPVQNRV |
| 490 | 500 | 510 | 520 | 530 | 540 |
| YKSLKVWSML | ADLEESLGTF | QSTKAVYDRI | LDLRIATPQI | VINYAMFLEE | HKYFEESFKA |
| 550 | 560 | 570 | 580 | 590 | 600 |
| YERGISLFKW | PNVSDIWSTY | LTKFIARYGG | RKLERARDLF | EQALDGCPPK | YAKTLYLLYA |
| 610 | 620 | 630 | 640 | 650 | 660 |
| QLEEEWGLAR | HAMAVYERAT | RAVEPAQQYD | MFNIYIKRAA | EIYGVTHTRG | IYQKAIEVLS |
| 670 | 680 | 690 | 700 | 710 | 720 |
| DEHAREMCLR | FADMECKLGE | IDRARAIYSF | CSQICDPRTT | GAFWQTWKDF | EVRHGNEDTI |
| 730 | 740 | 750 | 760 | 770 | 780 |
| KEMLRIRRSV | QATYNTQVNF | MASQMLKVSG | SATGTVSDLA | PGQSGMDDMK | LLEQRAEQLA |
| 790 | 800 | 810 | 820 | 830 | 840 |
| AEAERDQPLR | AQSKILFVRS | DASREELAEL | AQQVNPEEIQ | LGEDEDEDEM | DLEPNEVRLE |
| 850 | |||||
| QQSVPAAVFG | SLKED |