Q6P158
Gene name |
DHX57 |
Protein name |
Putative ATP-dependent RNA helicase DHX57 |
Names |
DEAH box protein 57 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:90957 |
EC number |
3.6.4.13: Acting on ATP; involved in cellular and subcellular movement |
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 Q6P158
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q6P158-F1 | Predicted | AlphaFoldDB |
1283 variants for Q6P158
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA346348317 rs1262293760 |
2 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 3 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765501981 CA1623735 |
6 | R>G | No |
ClinGen ExAC |
|
|
rs1405226344 CA346348289 |
6 | R>S | No |
ClinGen gnomAD |
|
|
CA1623734 rs762107645 |
7 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754210493 CA1623733 |
10 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs754210493 CA346348265 |
10 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs569587971 CA45632746 |
11 | P>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs764626490 CA1623732 |
14 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs776116114 CA1623730 |
15 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA1623727 rs143894397 |
16 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1623728 rs143894397 |
16 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA45632692 rs1056169478 |
17 | K>Q | No |
ClinGen TOPMed |
|
|
CA346348109 rs1219871266 |
19 | S>A | No |
ClinGen gnomAD |
|
|
CA1623724 rs780870342 |
20 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA346348083 rs1319867450 |
23 | G>E | No |
ClinGen TOPMed |
|
|
rs1273231500 CA346348078 |
24 | R>K | No |
ClinGen gnomAD |
|
|
CA346348065 rs1353696410 |
26 | G>C | No |
ClinGen gnomAD |
|
|
rs139832987 CA1623723 |
27 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA45632667 rs149444526 |
28 | S>G | No |
ClinGen ESP |
|
|
rs746891526 CA1623722 |
28 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA1623719 rs750516749 |
30 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1623720 rs750516749 |
30 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA45632652 rs969972159 |
31 | S>R | No |
ClinGen gnomAD |
|
|
rs1470599243 CA346347999 |
32 | K>R | No |
ClinGen TOPMed |
|
|
CA1623718 rs779045038 |
33 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA346347978 rs754186230 |
34 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA1623716 rs754186230 |
34 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA1623717 rs771686044 |
34 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1623715 rs150741789 |
35 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA346347957 rs1391216126 |
36 | S>I | No |
ClinGen gnomAD |
|
|
rs1402264920 CA346347951 |
37 | G>S | No |
ClinGen gnomAD |
|
|
rs1190898602 CA346347939 |
38 | G>S | No |
ClinGen gnomAD |
|
|
CA1623712 rs369350519 |
39 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1623713 rs369350519 |
39 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346347919 rs1403652000 |
40 | G>A | No |
ClinGen gnomAD |
|
|
rs764933005 CA346347914 |
41 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148048184 CA346347910 |
41 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764933005 CA1623709 |
41 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148048184 CA1623708 |
41 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1623706 rs768334404 |
42 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1191180333 CA346347866 |
45 | G>D | No |
ClinGen gnomAD |
|
|
CA45632554 rs199910361 |
46 | G>E | No |
ClinGen 1000Genomes |
|
|
rs1202774251 CA346347847 |
47 | G>C | No |
ClinGen TOPMed |
|
|
CA45632531 rs149129160 |
47 | G>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA1623697 rs61757604 |
49 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1623696 rs772002792 |
50 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA1623695 rs745912432 |
53 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745912432 CA45632496 |
53 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778990019 CA1623694 |
53 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1623693 rs757379384 |
55 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1623691 rs778112189 |
56 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs369704731 CA1623690 |
56 | R>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA45632454 rs112320886 |
57 | I>M | No |
ClinGen Ensembl |
|
|
rs1572715161 CA346347735 |
58 | W>R | No |
ClinGen Ensembl |
|
|
CA1623689 rs753107126 |
59 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA45632445 rs1007144645 |
59 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs755563209 CA1623687 |
60 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA1623686 rs752159773 |
62 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1276956027 CA346347679 |
63 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 64 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 64 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346347659 rs1207075515 |
65 | C>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1623685 rs764806293 |
66 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1220812166 CA346347641 |
68 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA45632373 rs761455342 |
68 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346347638 rs761455342 |
68 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1623684 rs761455342 |
68 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149091784 CA1623683 |
71 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201234797 CA1623682 |
72 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1290963826 CA346347612 |
72 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs751164015 CA45632349 |
73 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA1623680 rs751164015 |
73 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1339880973 CA346347599 |
75 | R>G | No |
ClinGen TOPMed |
|
|
CA346346755 rs1572709037 |
76 | P>S | No |
ClinGen Ensembl |
|
|
CA346346748 rs1414329037 |
77 | S>G | No |
ClinGen gnomAD |
|
|
rs374670708 CA1623656 |
79 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1623655 rs769813148 |
79 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346346723 rs1191566328 |
80 | N>S | No |
ClinGen gnomAD |
|
|
CA346346716 rs1572708996 |
81 | I>T | No |
ClinGen Ensembl |
|
|
rs748368463 CA1623654 |
81 | I>V | No |
ClinGen ExAC |
|
|
CA1623653 rs35121369 |
82 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs546095244 CA1623652 |
82 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs747392970 CA346346709 |
82 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA346346705 rs1465268572 |
83 | K>* | No |
ClinGen gnomAD |
|
|
rs1236237824 CA346346680 |
86 | S>L | No |
ClinGen gnomAD |
|
|
CA1623649 rs370897825 |
87 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs572177410 CA1623648 |
87 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1623646 rs755622713 |
88 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA45628029 rs1011858742 |
90 | W>L | No |
ClinGen TOPMed gnomAD |
|
|
CA1623645 rs752345342 |
93 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs767167408 CA1623644 |
95 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759257700 CA1623643 |
97 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1623642 rs751383459 |
99 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA1623641 rs368279359 |
99 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346346582 rs1354815965 |
102 | H>R | No |
ClinGen TOPMed |
|
|
CA346346572 rs1558404714 |
103 | M>I | No |
ClinGen Ensembl |
|
|
CA1623639 rs773062925 |
103 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA346346575 rs769910949 |
103 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA1623638 rs769910949 |
103 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1245389569 CA346346566 |
104 | T>I | No |
ClinGen TOPMed |
|
|
rs1192770031 CA346346560 |
105 | S>F | No |
ClinGen gnomAD |
|
|
CA346346557 rs1285779616 |
106 | E>K | No |
ClinGen TOPMed |
|
|
rs762040974 CA1623636 |
107 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA346346519 rs1485230898 |
111 | V>L | No |
ClinGen gnomAD |
|
|
CA346346490 rs1212624126 |
115 | L>P | No |
ClinGen gnomAD |
|
|
rs1256049812 CA346346493 |
115 | L>V | No |
ClinGen gnomAD |
|
|
CA1623634 rs114788980 |
116 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs535416668 CA1623632 |
116 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1623631 rs535416668 |
116 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA1623633 rs535416668 |
116 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1623627 rs148085821 |
120 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346346457 rs1329210590 |
121 | Q>E | No |
ClinGen gnomAD |
|
|
CA1623626 rs780781252 |
122 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA1623625 rs754644148 |
123 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199537184 CA1623623 |
124 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346346417 rs1411484602 |
124 | D>E | No |
ClinGen Ensembl |
|
|
rs199537184 CA1623624 |
124 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346346390 rs1375059215 |
127 | S>P | No |
ClinGen gnomAD |
|
|
CA45626787 rs994684459 |
130 | G>R | No |
ClinGen Ensembl |
|
|
CA1623597 rs775770626 |
131 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1434684953 CA346346201 |
132 | S>P | No |
ClinGen TOPMed |
|
|
CA346346183 rs1298522120 |
133 | G>A | No |
ClinGen TOPMed |
|
|
rs1572707384 CA346346179 |
134 | E>K | No |
ClinGen Ensembl |
|
|
CA1623595 rs759902021 |
135 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA1623594 rs373342926 |
137 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1623592 rs749761049 |
138 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs749761049 CA1623593 |
138 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA1623591 rs773773866 |
138 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs749761049 CA346346097 |
138 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA346346060 rs768140975 |
139 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs779692343 CA1623588 |
140 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs140614624 CA1623589 |
140 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA45626650 rs375185377 |
141 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA45626657 rs914879895 |
141 | D>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 142 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346345993 rs1327785006 |
143 | C>S | No |
ClinGen gnomAD |
|
| TCGA novel | 144 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA45626637 rs972930206 |
144 | N>S | No |
ClinGen TOPMed |
|
|
CA1623585 rs778550993 |
145 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA1623586 rs778550993 |
145 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1623584 rs757161580 |
146 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs777917420 CA346345930 |
147 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346345925 rs145119195 |
147 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145119195 CA1623581 |
147 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs777917420 CA1623582 |
147 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1196180050 CA346345881 |
149 | W>C | No |
ClinGen TOPMed |
|
|
CA45626620 rs962919319 |
150 | P>S | No |
ClinGen TOPMed |
|
|
rs145424124 CA1623580 |
151 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1212408090 CA346345854 |
152 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs767726679 CA1623579 |
152 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1212408090 CA346345850 |
152 | G>V | No |
ClinGen gnomAD |
|
|
CA1623578 rs759651476 |
153 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs1225478200 CA346345831 |
154 | E>Q | No |
ClinGen gnomAD |
|
|
CA346345808 rs1351595767 |
155 | P>L | No |
ClinGen gnomAD |
|
|
rs751844457 CA1623577 |
155 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346345797 rs1456456226 |
156 | S>C | No |
ClinGen TOPMed |
|
|
CA346345789 rs1238092950 |
157 | L>V | No |
ClinGen gnomAD |
|
|
CA1623573 rs201714064 |
158 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201714064 CA1623572 |
158 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201714064 CA1623574 |
158 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1393627127 CA346345776 |
159 | P>L | No |
ClinGen gnomAD |
|
|
CA1623570 rs771662502 |
159 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771662502 CA1623571 |
159 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1623567 rs770839309 |
160 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778778622 CA1623568 |
160 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346345766 rs1302232095 |
161 | L>V | No |
ClinGen gnomAD |
|
|
rs577178168 CA1623565 |
162 | D>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1445508076 CA346345735 |
163 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA1623564 rs777790436 |
165 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1397344498 CA346345711 |
165 | E>K | No |
ClinGen gnomAD |
|
|
rs1368423440 CA346345696 |
166 | Y>N | No |
ClinGen Ensembl |
|
|
CA1623562 rs752725032 |
167 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs140135993 CA1623560 |
168 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766599238 CA1623558 |
170 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346345347 rs1270375896 |
172 | V>G | No |
ClinGen TOPMed |
|
|
rs750816877 CA1623556 |
174 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 176 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346345312 rs1231732509 |
176 | V>I | No |
ClinGen gnomAD |
|
|
rs752422590 CA1623555 |
179 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1270656438 CA346345286 |
179 | F>L | No |
ClinGen gnomAD |
|
|
rs144153416 CA1623554 |
180 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759145881 CA1623551 |
181 | V>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs759145881 CA1623552 |
181 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1623549 rs770716601 |
182 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs774094291 CA1623550 |
182 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA1623548 rs749039962 |
185 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346345212 rs1434442757 |
186 | V>L | No |
ClinGen gnomAD |
|
|
rs1434442757 CA346345216 |
186 | V>M | No |
ClinGen gnomAD |
|
|
CA346345150 rs1456605244 |
190 | S>F | No |
ClinGen TOPMed |
|
|
rs748027998 CA1623545 |
190 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1283783635 CA346345076 |
191 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1180676430 CA346345139 |
191 | R>T | No |
ClinGen gnomAD |
|
|
rs1233300249 CA346345066 |
192 | Y>C | No |
ClinGen gnomAD |
|
|
CA45626101 rs375409811 |
194 | F>L | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 195 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346345023 rs1305695932 |
195 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1267225871 CA346345006 |
196 | T>I | No |
ClinGen TOPMed |
|
|
CA1623528 rs182236510 |
197 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747987837 CA1623527 |
198 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1046657291 CA45626096 |
198 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1192304257 CA346344974 |
199 | C>R | No |
ClinGen TOPMed |
|
|
rs776363433 CA1623526 |
199 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs1373597155 CA346344960 |
200 | Q>E | No |
ClinGen gnomAD |
|
|
rs1440387785 CA346344947 |
200 | Q>H | No |
ClinGen gnomAD |
|
|
rs1300284787 CA346344954 |
200 | Q>L | No |
ClinGen gnomAD |
|
|
rs1300284787 CA346344950 |
200 | Q>P | No |
ClinGen gnomAD |
|
|
CA346344936 rs200740675 |
201 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1623525 rs200740675 |
201 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs916750022 CA45626048 |
202 | V>L | No |
ClinGen Ensembl |
|
|
CA1623523 rs780085725 |
204 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1419909426 CA346344849 |
208 | G>R | No |
ClinGen gnomAD |
|
|
rs1158949250 CA346344832 |
209 | D>G | No |
ClinGen TOPMed |
|
|
CA1623521 rs746087210 |
210 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs758514833 CA1623522 |
210 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1413096443 CA346344807 |
211 | G>V | No |
ClinGen TOPMed |
|
|
rs1214285644 CA346344804 |
212 | A>T | No |
ClinGen gnomAD |
|
|
rs1325512814 CA346344783 |
213 | S>L | No |
ClinGen Ensembl |
|
|
rs537984905 CA1623519 |
216 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1055189369 CA45625997 |
218 | L>F | No |
ClinGen Ensembl |
|
|
rs1319805510 CA346344724 |
219 | T>I | No |
ClinGen TOPMed |
|
|
CA346344729 rs1572706291 |
219 | T>P | No |
ClinGen Ensembl |
|
|
CA1623517 rs764471900 |
220 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1308645261 CA346344688 |
224 | E>D | No |
ClinGen gnomAD |
|
|
rs756663308 CA1623516 |
226 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA45625962 rs932823244 |
230 | M>I | No |
ClinGen TOPMed |
|
|
CA1623514 rs765980358 |
230 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs372080425 CA1623513 |
230 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1623512 rs144649956 |
231 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1623511 rs764945860 |
232 | I>T | No |
ClinGen ExAC |
|
|
rs976902636 CA45625943 |
232 | I>V | No |
ClinGen TOPMed |
|
|
rs776506087 CA1623509 |
233 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA1623507 rs760574218 |
236 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1623504 rs745964375 |
237 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772127644 CA1623505 |
237 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs778939120 CA346344581 |
241 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1558403066 CA346344567 |
242 | D>E | No |
ClinGen Ensembl |
|
|
CA1623502 rs771220969 |
244 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA1623500 rs375734126 |
245 | M>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1623501 rs189877994 |
245 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1623498 rs753240888 |
246 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1623499 rs753240888 |
246 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1623497 rs781767303 |
247 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs749978851 CA1623495 |
248 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201534858 CA1623494 |
248 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1623493 rs761504403 |
249 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA346344520 rs1303246220 |
250 | E>Q | No |
ClinGen gnomAD |
|
|
rs763872946 CA1623491 |
251 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA1623492 rs753474657 |
251 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1434333108 CA346344503 |
252 | A>G | No |
ClinGen Ensembl |
|
|
CA1623490 rs760522882 |
253 | F>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 253 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346344492 rs1376234469 |
254 | A>S | No |
ClinGen gnomAD |
|
|
rs775351186 CA1623489 |
255 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs35349461 CA1623488 |
256 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1558402962 CA346344471 |
257 | S>F | No |
ClinGen Ensembl |
|
|
rs759576493 CA1623487 |
259 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs145044261 CA1623486 |
260 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1623485 rs770952880 |
261 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA346344447 rs770952880 |
261 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1163721033 CA346344432 |
263 | F>C | No |
ClinGen TOPMed |
|
|
rs201441649 CA1623484 |
263 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346344424 rs1257730554 |
264 | I>M | No |
ClinGen gnomAD |
|
|
rs141972132 CA1623483 |
264 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA45625698 rs954574206 |
265 | E>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA346344416 rs1346222262 |
266 | R>G | No |
ClinGen gnomAD |
|
|
rs1407956539 CA346344411 |
266 | R>S | No |
ClinGen TOPMed |
|
|
rs1558402885 CA346344413 |
266 | R>T | No |
ClinGen Ensembl |
|
|
rs1255736638 CA346344408 |
267 | I>V | No |
ClinGen gnomAD |
|
|
CA45625687 rs867806568 |
268 | Q>H | No |
ClinGen Ensembl |
|
|
rs770222286 CA1623481 |
269 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA346344391 rs1572705916 |
269 | N>S | No |
ClinGen Ensembl |
|
|
rs1309769748 CA346344385 |
270 | R>T | No |
ClinGen gnomAD |
|
|
rs748526985 CA1623480 |
271 | V>I | No |
ClinGen ExAC |
|
|
rs778685124 CA45625654 |
274 | I>T | No |
ClinGen Ensembl |
|
|
rs149007934 CA1623478 |
274 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1265579920 CA346344321 |
277 | E>A | No |
ClinGen gnomAD |
|
|
rs1355967454 CA346344311 |
278 | L>M | No |
ClinGen TOPMed |
|
|
rs1356376751 CA346344304 |
278 | L>P | No |
ClinGen gnomAD |
|
|
rs1294078359 CA346344278 |
280 | Y>N | No |
ClinGen TOPMed |
|
|
CA1623476 rs200212755 |
284 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA1623474 rs200944825 |
284 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA346344212 rs1171779916 |
285 | F>L | No |
ClinGen gnomAD |
|
|
rs763752195 CA1623473 |
286 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1623472 rs760398196 |
286 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346344194 rs760398196 |
286 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346344139 rs1189672947 |
289 | K>M | No |
ClinGen gnomAD |
|
|
rs1440053301 CA346344113 |
290 | P>L | No |
ClinGen TOPMed |
|
|
CA346344084 rs1484481718 |
292 | E>* | No |
ClinGen gnomAD |
|
|
CA346344089 rs1484481718 |
292 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1623470 rs767396580 |
293 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1196693424 CA346344045 |
293 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs748980569 CA1623469 |
294 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA346344026 rs1250089531 |
294 | T>I | No |
ClinGen gnomAD |
|
|
CA346344030 rs1250089531 |
294 | T>S | No |
ClinGen gnomAD |
|
|
rs140984413 CA1623468 |
295 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1623467 rs766465347 |
296 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1015926294 CA45625598 |
297 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA346343973 rs1015926294 |
297 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs773498363 CA1623465 |
298 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs183380757 CA45625573 |
298 | Q>P | No |
ClinGen 1000Genomes TOPMed |
|
|
rs770169180 CA1623464 |
300 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs191514463 CA1623463 |
302 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA346343849 rs1391717510 |
306 | K>Q | No |
ClinGen gnomAD |
|
|
CA346343808 rs1339606667 |
308 | Y>F | No |
ClinGen TOPMed |
|
|
rs777112190 CA1623462 |
309 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747546644 CA1623460 |
310 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs780484174 CA1623459 |
311 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA45625528 rs1025022989 |
312 | N>S | No |
ClinGen Ensembl |
|
|
rs368617816 CA1623458 |
313 | C>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748755497 CA45625521 |
316 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1623457 rs748755497 |
316 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1270813617 CA346343736 |
317 | S>* | No |
ClinGen TOPMed |
|
|
rs752400492 CA346343720 |
319 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1623453 rs767291972 |
320 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1275191648 CA346343705 |
321 | F>L | No |
ClinGen gnomAD |
|
|
rs932944150 CA45625483 |
323 | H>R | No |
ClinGen TOPMed |
|
|
CA1623452 rs754783951 |
324 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1558402568 CA346343689 |
324 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 326 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1623450 rs766229200 |
326 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs375970776 CA1623447 |
328 | N>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs375970776 CA1623445 |
328 | N>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs375970776 CA1623446 |
328 | N>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs769053347 CA346343659 |
329 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA1623444 rs769053347 |
329 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA346343649 rs1395050102 |
330 | I>T | No |
ClinGen gnomAD |
|
|
rs1395818683 CA346343640 |
332 | G>R | No |
ClinGen gnomAD |
|
|
CA346343623 rs147595771 |
334 | I>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147595771 CA1623443 |
334 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1623442 rs574535201 |
335 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1623441 rs574535201 |
335 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1401247788 CA346343607 |
337 | S>G | No |
ClinGen TOPMed |
|
|
rs748785406 CA1623440 |
338 | V>L | No |
ClinGen ExAC |
|
|
rs898638146 CA45625355 |
340 | D>V | No |
ClinGen gnomAD |
|
|
CA346343580 rs1375205500 |
341 | S>P | No |
ClinGen gnomAD |
|
|
rs1037135080 CA45625331 |
342 | H>R | No |
ClinGen Ensembl |
|
|
CA346343567 rs1194349791 |
343 | L>V | No |
ClinGen gnomAD |
|
|
rs940058948 CA45625316 |
344 | N>I | No |
ClinGen Ensembl |
|
|
CA1623437 rs747781544 |
345 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1432758406 CA346343537 |
347 | E>V | No |
ClinGen gnomAD |
|
|
CA1623436 rs556369945 |
348 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1623434 rs751339701 |
351 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs912570499 CA45625300 |
353 | Y>C | No |
ClinGen Ensembl |
|
|
CA1623433 rs766289334 |
354 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758245241 CA346343487 |
355 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758245241 CA1623432 |
355 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1231718000 CA346343466 |
358 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA1623431 rs537520504 |
358 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA346343454 rs1285008465 |
360 | S>P | No |
ClinGen gnomAD |
|
|
CA346343443 rs1324877962 |
361 | K>N | No |
ClinGen TOPMed |
|
|
rs1192955126 CA346343441 |
362 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs987240109 CA45625272 |
362 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1623430 rs765403010 |
363 | H>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 363 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs567888517 CA45625262 |
365 | Y>C | No |
ClinGen Ensembl |
|
|
rs376959260 CA1623429 |
368 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1623428 rs376959260 |
368 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs932636837 CA45625243 |
370 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 370 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1623424 rs772539277 |
372 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs551720980 CA1623425 |
372 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs760009745 CA1623423 |
373 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1196113159 CA346343352 |
375 | Y>C | No |
ClinGen TOPMed |
|
|
rs372479943 CA1623422 |
375 | Y>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769232728 CA1623421 |
376 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs769232728 CA45625174 |
376 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA45625157 rs926667685 |
377 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1477983361 CA346343336 |
378 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
CA346343334 rs1477983361 |
378 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1623416 rs779680984 |
379 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1623417 rs375889295 |
379 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1623418 rs768213847 |
379 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA346343313 rs758280427 |
382 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346343309 rs1282164654 |
382 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA1623415 rs758280427 |
382 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1623413 rs533565495 |
384 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA346343299 rs533565495 |
384 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA346343294 rs1432208985 |
385 | C>Y | No |
ClinGen gnomAD |
|
|
rs757340903 CA1623412 |
386 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1623411 rs754003710 |
386 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1237889649 CA346343273 |
388 | H>Q | No |
ClinGen TOPMed |
|
|
CA346343275 rs1377719471 |
388 | H>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs966828827 CA45625058 |
389 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs966828827 CA346343270 |
389 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA45625051 rs769366240 |
392 | F>Y | No |
ClinGen Ensembl |
|
|
CA1623409 rs764330436 |
393 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA346343217 rs1207592201 |
396 | K>N | No |
ClinGen TOPMed |
|
|
CA346343213 rs1169758218 |
397 | A>D | No |
ClinGen gnomAD |
|
|
CA1623408 rs760789150 |
397 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1169758218 CA346343211 |
397 | A>V | No |
ClinGen gnomAD |
|
|
CA346343205 CA1623407 rs753007218 |
398 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1623406 rs199960627 |
399 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs747694353 CA1623405 |
399 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346343188 rs774769962 |
401 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1623404 rs774769962 |
401 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA346343176 rs1441777628 |
403 | T>S | No |
ClinGen gnomAD |
|
|
rs369485938 CA1623402 |
404 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1623400 rs548483658 |
406 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1623399 rs746636149 |
407 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1623396 rs745664385 |
408 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1623397 rs745664385 |
408 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs11893062 VAR_052190 CA1623394 |
410 | S>F | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs200152145 CA1623393 |
413 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777687322 CA346343117 |
413 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA1623392 rs777687322 |
413 | T>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 414 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756287823 CA1623391 |
415 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA1623390 rs752800097 |
416 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1309602275 CA346343095 |
417 | E>K | No |
ClinGen TOPMed |
|
|
CA1623388 rs755293139 |
418 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767781387 CA1623389 |
418 | E>K | No |
ClinGen ExAC TOPMed |
|
|
rs779943066 CA45624857 |
419 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1224657255 CA346343073 |
420 | E>G | No |
ClinGen TOPMed |
|
|
rs766777001 CA1623386 |
422 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs763417701 CA1623385 |
423 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA45624806 rs372849913 |
423 | K>R | No |
ClinGen Ensembl |
|
|
CA1623383 rs758306533 |
426 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346343033 rs1310072891 |
427 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1310072891 CA346343034 |
427 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1252385690 CA346343029 |
427 | N>I | No |
ClinGen TOPMed |
|
|
rs1227363200 CA346343026 |
428 | T>A | No |
ClinGen gnomAD |
|
|
CA346343025 rs1227363200 |
428 | T>P | No |
ClinGen gnomAD |
|
|
CA1623379 rs774254483 |
430 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774254483 CA1623378 |
430 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs11124652 CA1623380 |
430 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1623377 rs770896479 |
431 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs534676110 CA1623374 |
432 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs534676110 CA1623375 |
432 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA45624718 rs750408030 |
432 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750408030 CA1623376 |
432 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_033861 rs35371077 CA1623372 |
433 | S>G | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs532486917 CA1623371 |
433 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1572704733 CA346342987 |
434 | D>A | No |
ClinGen Ensembl |
|
|
CA1623367 rs750828395 |
435 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA1623368 rs758829319 |
435 | P>S | No |
ClinGen ExAC |
|
|
CA1623369 rs758829319 |
435 | P>T | No |
ClinGen ExAC |
|
|
rs765787089 CA1623366 |
436 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs765787089 CA346342976 |
436 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA346342967 rs1236121511 |
437 | V>G | No |
ClinGen gnomAD |
|
|
CA346342970 rs1437753174 |
437 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1437753174 CA346342972 |
437 | V>M | No |
ClinGen gnomAD |
|
|
CA346342965 rs1300281448 |
438 | N>D | No |
ClinGen TOPMed |
|
|
CA1623365 rs760054181 |
438 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346342962 rs760054181 |
438 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA45624647 rs926692589 |
439 | F>L | No |
ClinGen TOPMed |
|
|
CA1623364 rs775095459 |
439 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs767174053 CA1623363 |
441 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA45624646 rs925149668 |
441 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA346342938 rs1220458873 |
442 | V>G | No |
ClinGen gnomAD |
|
|
rs759239660 CA1623362 |
443 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1317125445 CA346342937 |
443 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 444 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs540582868 CA1623361 |
444 | S>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1623360 rs770841483 |
445 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs528501820 CA1623359 |
445 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1365660010 CA346342919 |
446 | T>N | No |
ClinGen gnomAD |
|
|
CA346342916 rs1292999256 |
447 | R>G | No |
ClinGen gnomAD |
|
|
CA45624550 rs369118297 |
448 | I>L | No |
ClinGen ESP |
|
|
rs1431764750 CA346342906 |
448 | I>R | No |
ClinGen gnomAD |
|
|
CA1623357 rs769804666 |
449 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA1623355 rs781229451 |
451 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA1623354 rs543609570 |
452 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA346342879 rs543609570 |
452 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA346342877 rs1205058513 |
453 | C>R | No |
ClinGen TOPMed |
|
|
CA45624503 rs150462026 |
453 | C>Y | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs747227923 CA1623353 |
454 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs780260183 CA1623352 |
455 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1190068505 CA346342856 |
456 | T>A | No |
ClinGen gnomAD |
|
|
rs1482127865 CA346342852 |
456 | T>I | No |
ClinGen TOPMed |
|
|
CA45624492 rs201298408 |
458 | I>T | No |
ClinGen Ensembl |
|
|
rs375882345 CA1623351 |
459 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 459 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375882345 CA346342835 |
459 | P>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs561305100 CA1623350 |
460 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs561305100 CA346342831 |
460 | N>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA346342814 rs1353484091 |
462 | S>F | No |
ClinGen gnomAD |
|
|
CA1623347 rs36035994 |
465 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1623346 rs36035994 |
465 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA346342793 rs1418821870 |
466 | N>I | No |
ClinGen TOPMed |
|
|
rs961920916 CA45624447 |
466 | N>Y | No |
ClinGen TOPMed |
|
|
CA1623345 rs143424339 |
467 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1443960787 CA346342780 |
468 | I>V | No |
ClinGen gnomAD |
|
|
rs1382807848 CA346342770 |
469 | P>L | No |
ClinGen gnomAD |
|
|
CA1623344 rs112385789 |
469 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346342760 rs1296635294 |
471 | V>L | No |
ClinGen gnomAD |
|
|
CA346342265 rs1477291349 |
472 | E>K | No |
ClinGen gnomAD |
|
|
CA1623322 rs750102277 |
475 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765077550 CA1623321 |
477 | S>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 477 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775222505 CA1623319 |
478 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs113261999 CA45622999 |
480 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1623318 rs113261999 |
480 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346342202 rs528277211 |
481 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1623316 rs528277211 |
481 | D>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1623314 rs746086787 |
482 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772091301 CA1623315 |
482 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs771698836 CA346342176 |
485 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1623312 rs771698836 |
485 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1623311 rs749679881 |
486 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA346342167 rs1328720888 |
487 | A>P | No |
ClinGen gnomAD |
|
|
CA346342146 rs1394546648 |
490 | I>T | No |
ClinGen gnomAD |
|
|
CA1623310 rs778388614 |
490 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs145496216 CA1623309 |
491 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1623307 rs779605977 |
492 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs757914387 CA1623306 |
492 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA346342138 rs1368314736 |
492 | E>K | No |
ClinGen gnomAD |
|
|
CA346342134 rs779605977 |
492 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA45622921 rs904189982 |
495 | S>N | No |
ClinGen Ensembl |
|
|
rs750027733 CA1623305 |
496 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1318150997 CA346342098 |
497 | V>A | No |
ClinGen TOPMed |
|
|
rs200406223 CA1623304 |
498 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA346342088 rs1292079593 |
499 | L>I | No |
ClinGen gnomAD |
|
|
CA346342089 rs1292079593 |
499 | L>V | No |
ClinGen gnomAD |
|
|
rs756997518 CA1623303 |
500 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1441799318 CA346342055 |
503 | I>S | No |
ClinGen TOPMed |
|
|
rs1355834195 CA346342052 |
504 | S>P | No |
ClinGen gnomAD |
|
|
rs753663924 CA1623302 |
505 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346342021 rs1240550747 |
506 | R>S | No |
ClinGen gnomAD |
|
|
CA1623301 rs763915982 |
507 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1009896060 CA45622898 |
509 | W>R | No |
ClinGen Ensembl |
|
|
rs1331246245 CA346341967 |
510 | Q>* | No |
ClinGen gnomAD |
|
|
CA1623299 rs775345978 |
512 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs767628356 CA1623298 |
513 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs542701551 CA1623297 |
515 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1623295 rs771077385 |
517 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1158619440 CA346341847 |
519 | G>C | No |
ClinGen gnomAD |
|
| TCGA novel | 521 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346341793 rs1248537875 |
523 | K>Q | No |
ClinGen gnomAD |
|
|
rs1196761013 CA346341767 |
524 | Q>H | No |
ClinGen gnomAD |
|
|
rs374731216 CA45622839 |
526 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374731216 CA1623292 |
526 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs202217345 CA1623290 |
526 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1623289 rs757867759 |
527 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA346341693 rs1489171322 |
529 | Q>R | No |
ClinGen gnomAD |
|
|
CA1623224 rs747887503 |
530 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780839910 CA1623223 |
531 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs754870859 CA1623222 |
533 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1448222305 CA346341005 |
533 | Q>L | No |
ClinGen TOPMed gnomAD |
|
|
CA346341006 rs1448222305 |
533 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1623221 rs751388843 |
534 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA1623219 rs370877683 |
535 | Q>P | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA346340984 rs1199936031 |
536 | S>C | No |
ClinGen gnomAD |
|
|
rs1199936031 CA346340985 |
536 | S>Y | No |
ClinGen gnomAD |
|
|
rs373391329 CA1623218 |
538 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1623217 rs758505016 |
539 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs368734922 CA1623216 |
540 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1467055250 CA346340951 |
541 | R>S | No |
ClinGen TOPMed |
|
|
CA1623214 rs754086663 |
542 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA1623213 rs754147605 |
542 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA346340930 rs1572698581 |
545 | P>S | No |
ClinGen Ensembl |
|
|
rs1425672913 CA346340924 |
546 | A>S | No |
ClinGen TOPMed |
|
|
CA346340916 rs1434657187 |
547 | W>S | No |
ClinGen TOPMed |
|
|
CA1623211 rs761103993 |
549 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1464085117 CA346340878 |
552 | T>S | No |
ClinGen gnomAD |
|
|
CA1623209 rs201069292 |
553 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1407294874 CA346340868 |
554 | L>V | No |
ClinGen gnomAD |
|
|
CA1623205 rs372022899 |
558 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1623204 rs201507310 |
558 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1623206 rs372022899 |
558 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346340831 rs1456096235 |
559 | K>N | No |
ClinGen gnomAD |
|
|
CA45620787 rs541205155 |
560 | H>Y | No |
ClinGen gnomAD |
|
|
rs1001935488 CA45620764 |
564 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA45620750 rs373208023 |
565 | I>L | No |
ClinGen Ensembl |
|
|
rs970450508 CA45620746 |
566 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA1623179 rs749405908 |
574 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs375216953 CA1623177 |
576 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1319813935 CA346353305 |
577 | I>V | No |
ClinGen TOPMed |
|
|
rs976094273 CA45655462 |
578 | P>A | No |
ClinGen TOPMed |
|
|
CA45655457 rs965657159 |
578 | P>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 582 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1623171 rs761190327 |
583 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA1623172 rs761190327 |
583 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs763562531 CA1623169 |
584 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA346353238 rs7598922 |
587 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_052191 rs7598922 CA1623167 |
587 | N>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs771926728 CA1623166 |
588 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140056476 CA1623165 |
589 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs140056476 CA346353230 |
589 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs774103711 CA1623164 |
590 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA346353213 rs1279893674 |
591 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1352048148 CA346353219 |
591 | E>Q | No |
ClinGen TOPMed |
|
|
rs1397857118 CA346353205 |
592 | K>N | No |
ClinGen gnomAD |
|
|
rs1305811128 CA346353208 |
592 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA1623163 rs770928732 |
593 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA346353190 rs547706396 |
594 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA45655350 rs547706396 |
594 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs765153722 CA1623162 |
594 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1376322392 CA346353152 |
597 | I>N | No |
ClinGen TOPMed |
|
|
CA1623161 rs777884140 |
599 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA45655335 rs1034346749 |
599 | T>S | No |
ClinGen Ensembl |
|
|
CA45655333 rs974305327 |
602 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1274227841 CA346353088 |
602 | R>L | No |
ClinGen TOPMed |
|
|
CA346353092 rs1274227841 |
602 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs184647075 CA1623160 |
603 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA346353080 rs1465826030 |
603 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs781410537 CA1623158 |
604 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1373364682 CA346353073 |
604 | I>V | No |
ClinGen gnomAD |
|
|
rs1183010195 CA346353034 |
607 | I>V | No |
ClinGen TOPMed |
|
|
CA1623155 rs751985731 |
609 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA45655319 rs539246388 |
610 | A>T | No |
ClinGen Ensembl |
|
|
CA1623154 rs201414410 |
612 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs141054985 CA1623153 |
612 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs374119423 CA1623150 |
613 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374119423 CA1623151 |
613 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA346352946 rs1256456455 |
614 | A>S | No |
ClinGen gnomAD |
|
|
rs752339688 CA1623149 |
615 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1430062045 CA346352909 |
616 | E>G | No |
ClinGen TOPMed |
|
|
rs759235891 CA45655279 |
618 | A>S | No |
ClinGen Ensembl |
|
|
CA45655261 rs571716433 |
619 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA346352867 rs1572696780 |
619 | E>V | No |
ClinGen Ensembl |
|
|
CA346352861 rs1325710661 |
620 | R>G | No |
ClinGen gnomAD |
|
|
CA1623148 rs767300538 |
620 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs759360545 CA346352848 |
621 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759360545 CA1623147 |
621 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA45655235 rs1029692798 |
622 | G>S | No |
ClinGen Ensembl |
|
|
CA45655233 rs997235941 |
625 | V>M | No |
ClinGen Ensembl |
|
| TCGA novel | 625 | V>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1623145 rs770678825 |
627 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA1623146 rs774160485 |
627 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 629 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346352755 rs1168173782 |
630 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs762931293 CA1623144 |
630 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA45655211 rs776445183 |
632 | E>G | No |
ClinGen Ensembl |
|
|
rs900455697 CA346352715 |
633 | S>N | No |
ClinGen gnomAD |
|
|
CA45655208 rs900455697 |
633 | S>T | No |
ClinGen gnomAD |
|
|
rs1369708646 CA346352704 |
634 | V>F | No |
ClinGen TOPMed |
|
|
rs1461158606 CA346352698 |
634 | V>G | No |
ClinGen gnomAD |
|
|
rs1369708646 CA346352707 |
634 | V>I | No |
ClinGen TOPMed |
|
|
CA346352515 rs1404454454 |
640 | R>I | No |
ClinGen gnomAD |
|
|
rs775731883 CA1623098 |
642 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1424542681 CA346352500 |
643 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs772214060 CA1623097 |
644 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs774830705 CA1623095 |
646 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1345532369 CA346352458 |
647 | G>R | No |
ClinGen TOPMed |
|
|
rs1442875871 CA346352441 |
648 | V>A | No |
ClinGen gnomAD |
|
|
CA346352416 rs1201191070 |
651 | R>T | No |
ClinGen gnomAD |
|
|
rs749804856 CA1623093 |
652 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA346352362 rs1220058552 |
655 | G>R | No |
ClinGen gnomAD |
|
|
CA1623090 rs746535946 |
656 | D>G | No |
ClinGen ExAC |
|
|
rs934206326 CA45654177 |
657 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA45654179 rs934206326 |
657 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1623088 rs370746417 |
658 | A>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs907914109 CA45654176 |
658 | A>T | No |
ClinGen TOPMed |
|
|
CA346352317 rs1342740308 |
659 | L>V | No |
ClinGen gnomAD |
|
|
CA45654147 rs901409167 |
660 | Q>* | No |
ClinGen Ensembl |
|
|
rs1285444805 CA346352275 |
662 | V>D | No |
ClinGen TOPMed |
|
|
CA1623086 rs61757605 |
662 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1623085 rs757052058 |
664 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA1623084 rs753716655 |
664 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346352213 rs1417146503 |
667 | V>A | No |
ClinGen gnomAD |
|
|
rs377540147 CA1623082 |
668 | D>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs951999177 CA45654097 |
670 | V>G | No |
ClinGen TOPMed |
|
|
rs772875782 CA45654087 |
673 | R>K | No |
ClinGen TOPMed |
|
|
CA1623081 rs529991105 |
674 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs562694324 CA1623080 |
674 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1238250428 CA346352126 |
675 | E>K | No |
ClinGen gnomAD |
|
|
CA1623079 rs759815116 |
676 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA346351966 rs1572685549 |
680 | L>F | No |
ClinGen Ensembl |
|
|
CA1623051 rs773431249 |
681 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs150863527 CA1623049 |
683 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1623046 rs150769220 |
687 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1222149708 CA346351918 |
688 | V>A | No |
ClinGen gnomAD |
|
|
rs1393876290 CA346351911 |
689 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs770539412 CA1623043 |
690 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA45648991 rs796588774 |
692 | P>R | No |
ClinGen Ensembl |
|
|
rs1160667132 CA346351894 |
692 | P>S | No |
ClinGen gnomAD |
|
|
CA346351887 rs1247495801 |
693 | G>A | No |
ClinGen TOPMed |
|
|
CA346351889 rs1279413879 |
693 | G>C | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 693 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346351891 rs1279413879 |
693 | G>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 694 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1341359106 CA346351869 |
696 | V>A | No |
ClinGen TOPMed |
|
|
rs768026917 CA1623041 |
696 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1623039 rs747966382 |
697 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 701 | A>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA45648954 rs776927183 |
701 | A>T | No |
ClinGen Ensembl |
|
|
CA45648948 rs939356208 |
702 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs755071592 CA1623037 |
703 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA1623035 rs766619040 |
705 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1257081151 CA346351798 |
707 | L>H | No |
ClinGen TOPMed |
|
|
CA346351789 rs1446569720 |
708 | F>L | No |
ClinGen TOPMed |
|
|
rs750725254 CA1623033 |
709 | S>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 709 | S>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776952163 CA1623030 |
710 | D>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs762253917 CA1623031 |
710 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA346351773 rs1238150703 |
711 | Y>C | No |
ClinGen gnomAD |
|
|
CA346351775 rs1485786818 |
711 | Y>N | No |
ClinGen gnomAD |
|
|
rs1238150703 CA346351772 |
711 | Y>S | No |
ClinGen gnomAD |
|
|
rs1205602247 CA346351767 |
712 | F>V | No |
ClinGen gnomAD |
|
|
rs764615458 CA1623029 |
713 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1262810702 CA346351756 |
713 | N>I | No |
ClinGen gnomAD |
|
|
rs1219465694 CA346351750 |
714 | S>F | No |
ClinGen gnomAD |
|
|
CA346351736 rs1216240355 |
716 | P>R | No |
ClinGen gnomAD |
|
|
CA1623026 rs140910356 |
717 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs748884511 CA1623025 |
719 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1262509172 CA346351721 |
719 | T>S | No |
ClinGen gnomAD |
|
|
CA45648889 rs770282538 |
720 | I>L | No |
ClinGen Ensembl |
|
|
rs1173009040 CA346351711 |
720 | I>M | No |
ClinGen TOPMed |
|
|
rs1302950958 CA346351713 |
720 | I>T | No |
ClinGen gnomAD |
|
|
CA346351706 rs1454152535 |
721 | P>L | No |
ClinGen gnomAD |
|
|
CA346351708 rs1376235140 |
721 | P>S | No |
ClinGen TOPMed |
|
|
CA1623024 rs772920040 |
722 | G>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs762534427 CA1623008 |
723 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs772689230 CA1623007 |
723 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs747806873 CA1623006 |
724 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1623005 rs747806873 |
724 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 725 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1623004 rs776558067 |
725 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs768643592 CA1623003 |
726 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs746877485 CA1623002 |
727 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346351658 rs1384701941 |
728 | D>G | No |
ClinGen gnomAD |
|
|
CA1623001 rs780154525 |
729 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1381238333 CA346351640 |
730 | F>L | No |
ClinGen gnomAD |
|
| rs749610132 | 732 | L>W | Variant assessed as Somatic; 9.41e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778898367 CA1622996 |
733 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA1622995 rs757611370 |
735 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA45647921 rs991117219 |
736 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 737 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1357114852 CA346351583 |
739 | T>I | No |
ClinGen gnomAD |
|
|
rs754064606 CA1622994 |
740 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778102683 CA1622993 |
740 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs778102683 CA346351578 |
740 | R>M | No |
ClinGen ExAC gnomAD |
|
|
CA45645797 rs551003223 |
740 | R>S | No |
ClinGen Ensembl |
|
|
rs778102683 CA346351579 |
740 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA346351562 rs1264161643 |
741 | Y>C | No |
ClinGen gnomAD |
|
|
rs761247318 CA1622968 |
743 | L>* | No |
ClinGen ExAC gnomAD |
|
|
CA346351540 rs1259083461 |
744 | Q>H | No |
ClinGen gnomAD |
|
|
CA1622966 rs763873864 |
744 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1622965 rs538914721 |
744 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1488225395 CA346351536 |
745 | D>G | No |
ClinGen gnomAD |
|
|
CA346351522 rs1264671525 |
747 | S>T | No |
ClinGen gnomAD |
|
|
rs145470008 CA1622963 |
748 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1622961 rs759509888 |
749 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs374756219 CA1622960 |
750 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768628631 CA45645751 |
751 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs768628631 CA1622958 |
751 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1622959 rs140333800 |
751 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA346351488 rs1453538912 |
753 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 754 | K>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA45645749 rs543662055 |
755 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1622956 rs769983238 |
756 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1622955 rs748428254 |
758 | K>T | No |
ClinGen ExAC |
|
|
rs781616603 CA1622954 |
759 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1622953 rs576017775 |
761 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1622952 rs747497239 |
762 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs539183345 CA1622951 |
763 | A>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs539183345 CA1622950 |
763 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1622949 rs753369582 |
764 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs145593757 CA1622946 |
765 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1622945 rs145593757 |
765 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs372550788 CA1622948 |
765 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs759263103 CA1622944 |
767 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1622943 rs774294850 |
769 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs766257650 CA1622942 |
770 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA346351364 rs1216647720 |
772 | E>A | No |
ClinGen gnomAD |
|
|
rs762916338 CA1622941 |
773 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA346351359 rs1337834099 |
773 | V>M | No |
ClinGen gnomAD |
|
|
rs1385096038 CA346351352 |
774 | E>* | No |
ClinGen gnomAD |
|
|
CA346351350 rs1211654231 |
774 | E>G | No |
ClinGen TOPMed |
|
|
rs1334718604 CA346351337 |
776 | D>H | No |
ClinGen gnomAD |
|
|
CA45645694 CA45645695 rs964816081 |
778 | R>S | No |
ClinGen TOPMed |
|
|
CA1622939 rs769930204 |
778 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 779 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA45645690 rs1017306327 |
780 | S>C | No |
ClinGen Ensembl |
|
|
CA45645670 rs1017306327 |
780 | S>F | No |
ClinGen Ensembl |
|
|
CA346351314 rs1331098164 |
780 | S>P | No |
ClinGen gnomAD |
|
|
rs1331098164 CA346351315 |
780 | S>T | No |
ClinGen gnomAD |
|
|
rs144570908 CA1622938 |
781 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346351290 rs1469012348 |
784 | Q>* | No |
ClinGen Ensembl |
|
|
CA1622937 rs147262119 |
786 | Q>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1004526810 CA45645645 |
787 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1004526810 CA346351269 |
787 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA346351245 rs1386569846 |
790 | K>I | No |
ClinGen gnomAD |
|
|
rs1324468585 CA346351229 |
792 | A>V | No |
ClinGen gnomAD |
|
|
rs1443676563 CA346351217 |
794 | P>L | No |
ClinGen gnomAD |
|
|
rs769020677 CA1622936 |
797 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs747367877 CA1622935 |
798 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200312402 CA45645643 |
798 | L>I | No |
ClinGen Ensembl |
|
|
CA1622934 rs780511045 |
799 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA346351148 rs758954483 |
804 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA1622933 rs758954483 |
804 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1622931 rs145590165 |
806 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1622932 rs145590165 |
806 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1313052582 CA346351140 |
806 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA45645599 rs747186753 |
807 | Y>C | No |
ClinGen TOPMed |
|
|
rs904110004 CA45645589 |
809 | G>W | No |
ClinGen TOPMed |
|
|
CA1622905 rs189715404 |
810 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs779759078 CA1622904 |
811 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA45642518 rs975326939 |
813 | S>A | No |
ClinGen TOPMed |
|
|
CA1622902 rs750311248 |
814 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs765194812 CA1622901 |
815 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA346351059 rs1226080190 |
817 | T>A | No |
ClinGen gnomAD |
|
|
CA346351057 rs1363833380 |
817 | T>I | No |
ClinGen gnomAD |
|
|
CA1622900 rs761854021 |
818 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs764295437 CA1622898 |
820 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA346351038 rs1403390010 |
820 | I>T | No |
ClinGen gnomAD |
|
|
rs764295437 CA1622899 |
820 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs760801259 CA1622897 |
821 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA346351030 rs1235815768 |
821 | M>T | No |
ClinGen TOPMed |
|
|
CA346351034 rs1558382050 |
821 | M>V | No |
ClinGen Ensembl |
|
|
CA1622896 rs371342665 |
823 | F>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346351006 rs1399165877 |
824 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 824 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1622895 rs140051981 |
826 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1299102873 CA346350990 |
827 | N>D | No |
ClinGen gnomAD |
|
|
CA346350975 rs1365368416 |
829 | E>* | No |
ClinGen TOPMed |
|
|
rs151227417 CA346350951 |
832 | E>G | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs151227417 CA45642493 |
832 | E>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA346350948 rs1185454637 |
833 | A>T | No |
ClinGen gnomAD |
|
|
CA346350933 rs1255798535 |
835 | L>* | No |
ClinGen gnomAD |
|
|
CA346350913 rs1480875415 |
837 | W>C | No |
ClinGen gnomAD |
|
|
rs1434281378 CA346350906 |
838 | I>S | No |
ClinGen gnomAD |
|
|
rs1434281378 CA346350907 |
838 | I>T | No |
ClinGen gnomAD |
|
|
rs1252778396 CA346350903 |
839 | V>L | No |
ClinGen gnomAD |
|
|
CA1622891 rs545001600 |
840 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1622890 rs545001600 |
840 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA346350888 rs1329474053 |
841 | G>A | No |
ClinGen TOPMed |
|
|
rs1376211853 CA346350882 |
842 | K>R | No |
ClinGen TOPMed |
|
|
rs964923837 CA45642476 |
843 | H>N | No |
ClinGen TOPMed |
|
|
CA346350877 rs964923837 |
843 | H>Y | No |
ClinGen TOPMed |
|
|
rs185401248 CA346350870 |
844 | S>A | No |
ClinGen 1000Genomes gnomAD |
|
|
CA346350867 rs1309814769 |
844 | S>F | No |
ClinGen TOPMed |
|
|
CA45642475 rs185401248 |
844 | S>T | No |
ClinGen 1000Genomes gnomAD |
|
|
rs771624089 CA45642451 |
847 | P>L | No |
ClinGen gnomAD |
|
|
rs773824195 CA45636427 |
849 | A>G | No |
ClinGen TOPMed |
|
|
rs1455567479 CA346350112 |
849 | A>T | No |
ClinGen gnomAD |
|
|
rs773824195 CA45636426 |
849 | A>V | No |
ClinGen TOPMed |
|
|
CA346350108 rs1362321176 |
850 | I>V | No |
ClinGen gnomAD |
|
|
rs766823026 CA1622874 |
851 | L>R | No |
ClinGen ExAC |
|
|
CA346350097 rs1431759461 |
852 | V>I | No |
ClinGen TOPMed |
|
|
CA1622873 rs763304580 |
854 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs773785157 CA1622872 |
855 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA346350075 rs1472173225 |
855 | P>S | No |
ClinGen gnomAD |
|
|
rs1455797610 CA346350068 |
856 | G>V | No |
ClinGen TOPMed |
|
|
rs1252327870 CA346350063 |
857 | L>P | No |
ClinGen gnomAD |
|
|
CA346350036 rs1449750181 |
861 | K>R | No |
ClinGen gnomAD |
|
|
rs932027309 CA346350029 |
862 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
CA45636414 rs932027309 |
862 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA346350000 rs1486551123 |
866 | Q>* | No |
ClinGen gnomAD |
|
|
CA346349998 rs1433578049 |
866 | Q>R | No |
ClinGen TOPMed |
|
|
rs775025344 CA1622869 |
868 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA1622868 rs771694437 |
871 | S>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs745581093 CA1622867 |
872 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA1622866 rs371267292 |
873 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1330989391 CA346349955 |
873 | F>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1622865 rs757076276 |
875 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1367444578 CA346349932 |
876 | R>K | No |
ClinGen TOPMed |
|
|
rs777784063 CA1622864 |
877 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1622863 rs777784063 |
877 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373304739 CA1622862 |
877 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752793457 CA1622861 |
878 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 879 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1622859 rs755236995 |
879 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346349911 rs965943997 |
880 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1193792866 CA346349909 |
880 | R>Q | No |
ClinGen gnomAD |
|
|
rs1338066085 CA346349473 |
881 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs777468670 CA1622846 |
882 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756056164 CA1622845 |
883 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA346349460 rs1414938922 |
883 | I>V | No |
ClinGen TOPMed |
|
|
rs779825210 CA45635349 |
885 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779825210 CA1622844 |
885 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779825210 CA346349444 |
885 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1622842 rs755124438 |
889 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA45635344 rs913864601 |
889 | S>P | No |
ClinGen gnomAD |
|
|
rs989143086 CA346349397 |
891 | S>F | No |
ClinGen gnomAD |
|
|
CA346349405 rs1246869642 |
891 | S>P | No |
ClinGen gnomAD |
|
|
rs989143086 CA45635332 |
891 | S>Y | No |
ClinGen gnomAD |
|
|
rs139478841 CA1622839 |
892 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs912179688 CA346349360 |
894 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA45635323 rs912179688 |
894 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1368672693 CA346349314 |
897 | A>G | No |
ClinGen gnomAD |
|
|
rs762305779 CA1622837 |
897 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762305779 CA1622836 |
897 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346349306 rs1424810336 |
898 | V>L | No |
ClinGen gnomAD |
|
|
rs1572647761 CA346349258 |
901 | K>N | No |
ClinGen Ensembl |
|
|
CA346349246 rs1221434729 |
902 | P>L | No |
ClinGen TOPMed |
|
|
CA45635318 rs934846338 |
902 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs766952788 CA1622834 |
903 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1488168656 CA346349225 |
904 | A>V | No |
ClinGen TOPMed |
|
|
CA1622833 rs137955748 |
907 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1233837044 CA346349180 |
908 | K>R | No |
ClinGen gnomAD |
|
|
rs375191136 CA1622832 |
909 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1622831 rs770583366 |
910 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs981302378 CA45635303 |
911 | I>S | No |
ClinGen Ensembl |
|
|
rs1251806938 CA346349130 |
912 | S>F | No |
ClinGen gnomAD |
|
|
rs773044904 CA1622828 |
917 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs867740242 CA45635296 |
920 | I>V | No |
ClinGen Ensembl |
|
|
rs1227985383 CA346349013 |
922 | I>L | No |
ClinGen gnomAD |
|
|
CA1622826 rs748042609 |
923 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768817265 CA1622824 |
924 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA45635275 rs371578357 |
924 | D>G | No |
ClinGen Ensembl |
|
|
rs781303042 CA1622825 |
924 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs747055396 CA1622823 |
925 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA346348971 rs747055396 |
925 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs541175907 CA1622821 |
926 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs541175907 CA1622822 |
926 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346348951 rs1351130116 |
927 | Y>C | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 927 | Y>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750680865 CA1622820 |
928 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs779273882 CA1622819 |
929 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346348920 rs1182588999 |
930 | D>N | No |
ClinGen gnomAD |
|
|
rs979308867 CA45635236 |
934 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1622817 rs754292130 |
937 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA346348807 rs1411610888 |
938 | R>I | No |
ClinGen gnomAD |
|
|
CA346348768 rs199924545 |
940 | D>E | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA1622797 rs756599449 |
940 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1207071869 CA346348763 |
941 | A>D | No |
ClinGen gnomAD |
|
|
CA346348755 rs1464573473 |
942 | S>N | No |
ClinGen gnomAD |
|
|
CA346348753 rs1202880753 |
942 | S>R | No |
ClinGen gnomAD |
|
|
CA346348748 rs1267292405 |
943 | K>R | No |
ClinGen gnomAD |
|
|
CA346348740 rs1210604855 |
944 | G>A | No |
ClinGen gnomAD |
|
|
rs1210604855 CA346348739 |
944 | G>V | No |
ClinGen gnomAD |
|
|
CA1622795 rs765846506 |
947 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA346348714 rs1218507207 |
948 | L>V | No |
ClinGen gnomAD |
|
|
CA45634884 rs761631988 |
950 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA346348700 rs761631988 |
950 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA1622793 rs750054518 |
951 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs201583373 CA1622792 |
952 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 954 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1359560963 CA346348668 |
955 | Q>* | No |
ClinGen TOPMed |
|
|
CA1622790 rs761607666 |
956 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA1622787 rs760596871 |
959 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA346348620 rs1392124370 |
962 | K>R | No |
ClinGen gnomAD |
|
|
rs1261867681 CA346348613 |
963 | G>D | No |
ClinGen gnomAD |
|
|
CA1622785 rs199895785 |
964 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1622784 rs567818287 |
964 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1484115497 CA346348597 |
966 | G>A | No |
ClinGen gnomAD |
|
|
CA346348601 rs1183814169 |
966 | G>S | No |
ClinGen gnomAD |
|
|
CA346348595 rs1253966765 |
967 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA346348592 rs1209368605 |
967 | R>H | No |
ClinGen gnomAD |
|
|
rs1011426036 CA45634860 |
969 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1622782 rs771116019 |
970 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771116019 CA346348574 |
970 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA346348577 rs1237740763 |
970 | S>P | No |
ClinGen TOPMed |
|
|
rs963833028 CA45634833 |
973 | C>W | No |
ClinGen TOPMed |
|
|
rs1263832343 CA346348522 |
978 | T>A | No |
ClinGen TOPMed |
|
|
rs748629795 CA1622778 |
980 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA346348502 rs1191807435 |
981 | H>N | No |
ClinGen TOPMed |
|
|
CA1622777 rs781582490 |
982 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1622775 rs749881593 |
983 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1385869485 CA346348483 |
983 | N>S | No |
ClinGen gnomAD |
|
|
rs764899962 CA1622774 |
984 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1253859289 CA346348467 |
985 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA346348464 rs1181110622 |
986 | L>F | No |
ClinGen gnomAD |
|
|
rs756968066 CA1622773 |
988 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1253959108 CA346348434 |
990 | Q>R | No |
ClinGen gnomAD |
|
|
rs763927385 CA1622772 |
996 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA1622771 rs763927385 |
996 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs760412234 CA1622770 |
998 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA346348366 rs1246562522 |
1000 | E>D | No |
ClinGen gnomAD |
|
|
CA346348357 rs1319509211 |
1001 | Q>H | No |
ClinGen gnomAD |
|
|
CA1622767 rs531043285 |
1002 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs774398421 CA1622765 |
1005 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1156634639 CA346347579 |
1006 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 1008 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762154221 CA1622738 |
1009 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA1622737 rs776856091 |
1010 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1430956079 CA346347519 |
1011 | M>I | No |
ClinGen gnomAD |
|
|
rs926431638 CA45629831 |
1011 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1397717537 CA346347525 |
1011 | M>L | No |
ClinGen TOPMed |
|
|
rs1397717537 CA346347527 |
1011 | M>V | No |
ClinGen TOPMed |
|
|
rs769072081 CA1622736 |
1013 | S>C | No |
ClinGen ExAC |
|
|
CA346347484 rs1241191887 |
1014 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs142332924 CA1622735 |
1014 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA346347482 rs1241191887 |
1014 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs770528775 CA1622733 |
1015 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1345978811 CA346347462 |
1016 | N>S | No |
ClinGen TOPMed |
|
|
rs1572642990 CA346347454 |
1017 | L>F | No |
ClinGen Ensembl |
|
|
rs116823078 CA1622732 |
1018 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs777387845 CA1622731 |
1020 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs140005514 CA1622728 |
1023 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1622729 rs149818203 |
1023 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA346347362 rs1404404825 |
1027 | P>H | No |
ClinGen TOPMed |
|
|
CA346347360 rs1404404825 |
1027 | P>L | No |
ClinGen TOPMed |
|
|
CA1622727 rs139092761 |
1027 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1437584797 CA346347348 |
1029 | H>N | No |
ClinGen gnomAD |
|
|
rs1363336822 CA346347343 |
1029 | H>P | No |
ClinGen gnomAD |
|
|
rs373553409 CA1622725 |
1030 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750490531 CA346347327 |
1031 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1622723 rs750490531 |
1031 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765426352 CA1622722 |
1033 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs865861806 CA45629781 |
1034 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA1622721 rs146225438 |
1034 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs146225438 CA346347293 |
1034 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346347278 rs1377710584 |
1036 | S>A | No |
ClinGen TOPMed |
|
|
rs1450774084 CA346347248 |
1039 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1435617703 CA346347242 |
1039 | R>Q | No |
ClinGen TOPMed |
|
|
CA346347236 rs1245879577 |
1040 | L>S | No |
ClinGen gnomAD |
|
|
CA1622718 rs143143351 |
1041 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs776033435 CA346347227 |
1041 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776033435 CA1622717 |
1041 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772679797 CA1622716 |
1042 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1033101981 CA45629760 |
1042 | D>H | No |
ClinGen gnomAD |
|
|
CA346347201 CA1622715 rs746432217 |
1044 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1045 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780919884 CA1622711 |
1049 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA346347113 rs1340871481 |
1052 | L>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1622709 rs746784795 |
1053 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1622707 rs367699807 |
1054 | P>T | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 1055 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750379766 CA1622706 |
1056 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA1622704 rs757382878 |
1059 | L>F | No |
ClinGen ExAC |
|
|
CA346347045 rs1260701271 |
1059 | L>V | No |
ClinGen TOPMed |
|
|
CA1622703 rs753971820 |
1060 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA346347029 rs753971820 |
1060 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA346347026 rs1330408438 |
1061 | S>P | No |
ClinGen TOPMed |
|
|
CA1622702 rs764384767 |
1062 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1239608459 CA346347015 |
1062 | L>P | No |
ClinGen gnomAD |
|
|
rs149500475 CA1622700 |
1064 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA346346949 rs1482116826 |
1069 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 1072 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346346917 rs1179029713 |
1073 | L>F | No |
ClinGen TOPMed |
|
|
CA346346912 rs1358789439 |
1074 | F>S | No |
ClinGen gnomAD |
|
|
rs747724087 CA1622695 |
1075 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA1622696 rs769135704 |
1075 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346346901 rs1308569448 |
1076 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1308569448 CA346346900 |
1076 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs776044837 CA1622694 |
1078 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA1622693 rs772949216 |
1079 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA45629504 rs539720747 |
1079 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1622692 rs539720747 |
1079 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1392053035 CA346346854 |
1083 | P>R | No |
ClinGen TOPMed |
|
|
rs1572642529 CA346346858 |
1083 | P>T | No |
ClinGen Ensembl |
|
|
rs777799902 CA1622691 |
1084 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs777799902 CA1622690 |
1084 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA1622688 rs150390945 |
1085 | L>I | No |
ClinGen ESP ExAC |
|
|
rs1457186809 CA346346842 |
1086 | T>A | No |
ClinGen TOPMed |
|
|
CA1622687 rs565706584 |
1086 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1457186809 CA346346843 |
1086 | T>P | No |
ClinGen TOPMed |
|
|
rs565706584 CA1622686 |
1086 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs756397720 CA1622684 |
1087 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA1622683 rs547584255 |
1090 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1558367889 CA346346820 |
1090 | S>R | No |
ClinGen Ensembl |
|
|
CA346346818 rs547584255 |
1090 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs140511227 CA45629483 |
1094 | K>* | No |
ClinGen ESP |
|
|
CA45629475 rs980802459 |
1095 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs759965433 CA1622681 |
1096 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1622679 rs149658996 |
1097 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA346346293 rs1272533376 |
1098 | V>L | No |
ClinGen gnomAD |
|
|
CA1622658 rs763451408 |
1106 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs770136975 | 1106 | E>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766720394 CA1622659 |
1106 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs750943681 CA1622657 |
1107 | A>V | No |
ClinGen ExAC |
|
|
CA45626357 rs898571394 |
1108 | N>K | No |
ClinGen Ensembl |
|
|
rs763548572 CA1622655 |
1109 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1297806566 CA346346114 |
1110 | K>* | No |
ClinGen Ensembl |
|
|
CA1622654 rs563431328 |
1112 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs372962315 CA1622651 |
1115 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs927526923 CA45626331 |
1116 | F>I | No |
ClinGen TOPMed |
|
|
CA346345975 rs370522012 |
1117 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370522012 CA1622649 |
1117 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs940013201 CA45626313 |
1118 | N>D | No |
ClinGen Ensembl |
|
|
rs981602988 CA45626312 |
1119 | S>G | No |
ClinGen TOPMed |
|
|
rs777874243 CA1622647 |
1122 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777874243 CA346345879 |
1122 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA45626288 rs907787793 |
1124 | L>F | No |
ClinGen gnomAD |
|
|
CA1622646 rs769953389 |
1125 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs865951576 CA45626261 |
1126 | Q>* | No |
ClinGen Ensembl |
|
|
rs748208040 CA1622645 |
1127 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748208040 CA45626254 |
1127 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375890790 CA1622644 |
1127 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA346345814 rs1233005452 |
1128 | Y>C | No |
ClinGen gnomAD |
|
|
rs1240128300 CA346345805 |
1129 | K>E | No |
ClinGen TOPMed |
|
|
CA346345754 rs1461526563 |
1130 | G>R | No |
ClinGen gnomAD |
|
|
CA1622621 rs147441334 |
1132 | Q>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs369967213 CA1622620 |
1138 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200962138 CA1622618 |
1139 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1622617 rs757753529 |
1140 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1622616 rs138902985 |
1140 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs138902985 CA346345635 |
1140 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1622615 rs569789651 |
1141 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1622614 rs569789651 |
1141 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1622613 rs751181848 |
1142 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1193618215 CA346345619 |
1143 | Y>C | No |
ClinGen gnomAD |
|
|
CA346345614 rs1238203922 |
1144 | N>H | No |
ClinGen TOPMed |
|
|
rs148925710 CA1622612 |
1144 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141371788 CA1622611 |
1145 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1146 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1333162087 CA346345593 |
1147 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 1150 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1412865021 CA346345568 |
1150 | F>V | No |
ClinGen TOPMed |
|
|
CA346345558 rs1372547159 |
1151 | L>W | No |
ClinGen gnomAD |
|
|
rs1293011654 CA346345552 |
1152 | S>F | No |
ClinGen gnomAD |
|
|
CA346345555 rs1277510362 |
1152 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1277510362 CA346345554 |
1152 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs761785456 CA1622608 |
1153 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs144349702 CA1622609 |
1153 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346345545 rs1558364172 |
1154 | R>G | No |
ClinGen Ensembl |
|
|
CA45625977 rs1025233081 |
1154 | R>S | No |
ClinGen Ensembl |
|
|
CA346345542 rs1305475168 |
1154 | R>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1622566 rs758003708 |
1158 | E>A | No |
ClinGen ExAC TOPMed |
|
|
CA1622565 rs140728716 |
1158 | E>D | No |
ClinGen ESP ExAC TOPMed |
|
|
CA1622564 rs778674874 |
1159 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs998588071 CA45623518 |
1159 | M>V | No |
ClinGen gnomAD |
|
|
rs1253794276 CA346345239 |
1160 | A>V | No |
ClinGen TOPMed |
|
|
CA346345196 rs1374355575 |
1164 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs556108951 CA1622562 |
1164 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs764012601 CA1622561 |
1166 | F>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1166 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760458943 CA1622560 |
1167 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs767539590 CA1622558 |
1169 | L>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1170 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA45623502 rs1045409511 |
1171 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs759646144 CA1622557 |
1171 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759646144 CA346345118 |
1171 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1622554 rs763295085 |
1172 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763295085 CA45623487 |
1172 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346345105 rs1436139660 |
1173 | I>T | No |
ClinGen gnomAD |
|
|
rs1049288133 CA45623481 |
1174 | G>A | No |
ClinGen TOPMed |
|
|
rs1572632096 CA346345095 |
1175 | F>L | No |
ClinGen Ensembl |
|
|
rs770199232 CA1622552 |
1177 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1622551 rs748553445 |
1178 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1314112461 CA346345048 |
1179 | G>R | No |
ClinGen TOPMed |
|
|
rs781772153 CA1622550 |
1180 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1354800474 CA346345017 |
1181 | R>S | No |
ClinGen gnomAD |
|
|
rs769324588 CA1622549 |
1181 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1622548 rs369249802 |
1182 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1622547 rs150735204 |
1184 | E>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA346344983 rs1380917009 |
1184 | E>D | No |
ClinGen gnomAD |
|
|
CA1622546 rs376799913 |
1185 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1622545 rs753528561 |
1191 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA45623411 rs867395510 |
1192 | G>E | No |
ClinGen Ensembl |
|
|
CA346344880 rs1256810464 |
1193 | D>G | No |
ClinGen TOPMed |
|
|
CA1622543 rs755964010 |
1195 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs200730017 CA45623404 |
1196 | L>S | No |
ClinGen Ensembl |
|
|
CA45623399 rs752594582 |
1197 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142069579 CA1622541 |
1197 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1622542 rs752594582 |
1197 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139513185 CA1622539 |
1199 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346344790 rs1232324226 |
1200 | G>E | No |
ClinGen gnomAD |
|
|
CA1622511 rs764554764 |
1203 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346344157 rs1170183834 |
1203 | A>P | No |
ClinGen TOPMed |
|
|
rs1469368018 CA346344140 |
1204 | N>D | No |
ClinGen TOPMed |
|
|
rs776167951 CA1622509 |
1205 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1622510 rs761201191 |
1205 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1329786520 CA346344073 |
1207 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs770310943 CA1622508 |
1209 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346344007 rs1272259260 |
1210 | P>L | No |
ClinGen gnomAD |
|
|
CA346344021 rs1450285194 |
1210 | P>T | No |
ClinGen gnomAD |
|
|
rs769476598 CA1622507 |
1212 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs769476598 CA1622505 |
1212 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs747864012 CA1622504 |
1214 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346343933 rs1211424497 |
1216 | M>I | No |
ClinGen gnomAD |
|
|
CA1622502 rs754781303 |
1216 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA346343916 rs1486379763 |
1218 | C>Y | No |
ClinGen gnomAD |
|
|
rs746909137 CA1622501 |
1220 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346343888 rs746909137 |
1220 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA346343862 rs1209487774 |
1222 | Y>F | No |
ClinGen gnomAD |
|
|
rs780009363 CA1622500 |
1224 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA1622498 rs370295178 |
1226 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370295178 CA1622497 |
1226 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1361614353 CA346343800 |
1227 | Q>P | No |
ClinGen gnomAD |
|
|
rs757431033 CA1622476 |
1230 | S>N | No |
ClinGen ExAC |
|
|
rs757431033 CA45618903 |
1230 | S>T | No |
ClinGen ExAC |
|
|
rs754077159 CA1622474 |
1231 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs756456813 CA1622471 |
1232 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756456813 CA1622472 |
1232 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1622470 rs753094913 |
1233 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs767837952 CA1622469 |
1235 | F>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA1622468 rs760024447 |
1236 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1415669054 CA346342691 |
1236 | Q>R | No |
ClinGen gnomAD |
|
|
CA1622465 rs764678490 |
1239 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1622464 rs761281159 |
1240 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA346342661 rs1480131724 |
1241 | G>R | No |
ClinGen gnomAD |
|
|
rs1253217769 CA346342647 |
1243 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA346342645 rs1253217769 |
1243 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1240316995 CA346342624 |
1245 | M>V | No |
ClinGen gnomAD |
|
|
CA1622462 rs376787497 |
1247 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs760385932 CA1622461 |
1250 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1421664598 CA346342558 |
1251 | E>K | No |
ClinGen gnomAD |
|
|
CA346342537 rs1572617558 |
1252 | L>F | No |
ClinGen Ensembl |
|
| TCGA novel | 1252 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346342489 rs1442835115 |
1257 | K>E | No |
ClinGen gnomAD |
|
|
rs1391936617 CA346342476 |
1258 | N>D | No |
ClinGen gnomAD |
|
|
CA346342472 rs1164150812 |
1258 | N>I | No |
ClinGen gnomAD |
|
|
CA1622456 rs535060789 |
1258 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1000726146 CA45618824 |
1259 | D>G | No |
ClinGen TOPMed |
|
|
CA1622455 rs373998813 |
1259 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1622453 rs778059418 |
1260 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1417989947 CA346342432 |
1262 | V>I | No |
ClinGen gnomAD |
|
|
CA346342423 rs1253314512 |
1263 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
CA346342413 rs1195041797 |
1263 | H>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 1265 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA45618813 rs965393651 |
1266 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1622452 rs756403693 |
1269 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1018268966 CA45618790 |
1269 | V>L | No |
ClinGen Ensembl |
|
|
CA346342342 rs1259472322 |
1270 | N>K | No |
ClinGen gnomAD |
|
|
rs748324367 CA346342333 |
1271 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA1622451 rs748324367 |
1271 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA1622424 rs376956942 |
1273 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs971540019 CA45616733 |
1274 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs767058631 CA346342015 |
1274 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1622423 rs752287853 |
1274 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA346341991 rs1282172296 |
1276 | F>C | No |
ClinGen TOPMed |
|
|
CA346341978 rs1328587519 |
1277 | D>G | No |
ClinGen TOPMed |
|
|
rs1197715667 CA346341946 |
1279 | P>L | No |
ClinGen gnomAD |
|
|
rs774286967 CA1622420 |
1283 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA1622418 rs762928078 |
1286 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA346341841 rs1467350007 |
1286 | K>N | No |
ClinGen TOPMed |
|
| TCGA novel | 1286 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1196446034 CA346341778 |
1291 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs372024939 CA346341773 |
1291 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372024939 CA1622416 |
1291 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1622415 rs748146523 |
1292 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1434845364 CA346341747 |
1294 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs776829780 CA1622414 |
1295 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768755765 CA1622413 |
1295 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA45616686 rs866705558 |
1296 | D>E | No |
ClinGen Ensembl |
|
|
CA346341718 rs903923924 |
1297 | C>G | No |
ClinGen gnomAD |
|
|
CA45616685 rs903923924 |
1297 | C>R | No |
ClinGen gnomAD |
|
|
rs1403284729 CA346341683 |
1299 | M>T | No |
ClinGen TOPMed |
|
|
rs369055950 CA1622411 |
1299 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346341661 rs1420741272 |
1302 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs150583206 CA1622410 |
1304 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346341375 rs1572611549 |
1306 | V>G | No |
ClinGen Ensembl |
|
|
rs1229062523 CA346341383 |
1306 | V>I | No |
ClinGen TOPMed |
|
|
CA346341340 rs1332950879 |
1310 | G>R | No |
ClinGen TOPMed |
|
|
rs1209527160 CA346341305 |
1313 | V>M | No |
ClinGen TOPMed |
|
|
rs1250064213 CA346341297 |
1314 | N>D | No |
ClinGen gnomAD |
|
|
rs754524059 CA1622404 |
1316 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346341271 rs1335159581 |
1316 | Q>R | No |
ClinGen gnomAD |
|
|
CA45616604 rs372355547 |
1319 | R>T | No |
ClinGen ESP TOPMed |
|
|
rs1231324385 CA346341233 |
1320 | G>R | No |
ClinGen gnomAD |
|
|
rs1279666458 CA346341212 |
1321 | E>D | No |
ClinGen gnomAD |
|
|
CA1622403 rs138288600 |
1321 | E>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA346341201 rs146662521 CA346341199 |
1322 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1622401 rs762872875 |
1323 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1333685544 CA346341197 |
1323 | V>I | No |
ClinGen gnomAD |
|
|
CA1622399 rs765070989 |
1329 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368722712 CA1622397 |
1332 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764774893 CA1622396 |
1332 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368722712 CA346341101 |
1332 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346341081 rs1411051456 |
1334 | V>I | No |
ClinGen TOPMed |
|
|
rs760835407 CA1622395 |
1335 | A>V | No |
ClinGen ExAC |
|
|
CA1622394 rs375481101 |
1336 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346341064 rs1468661400 |
1336 | A>T | No |
ClinGen gnomAD |
|
|
CA45616544 rs772463049 |
1338 | H>R | No |
ClinGen Ensembl |
|
|
CA45616555 rs963122093 |
1338 | H>Y | No |
ClinGen Ensembl |
|
|
rs772315993 CA1622393 |
1339 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1285033350 CA346341040 |
1339 | Q>H | No |
ClinGen TOPMed |
|
|
rs868327057 CA45613523 |
1340 | V>M | No |
ClinGen Ensembl |
|
|
rs1467478294 CA346340646 |
1344 | V>I | No |
ClinGen gnomAD |
|
|
CA1622373 rs771343880 |
1347 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs771343880 CA1622374 |
1347 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA346340598 rs1272452704 |
1348 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs749710971 CA1622372 |
1348 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1530853 CA346340581 |
1349 | C>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA45613493 rs1054181196 |
1350 | E>K | No |
ClinGen TOPMed |
|
|
rs1436642790 CA346340534 |
1353 | Q>H | No |
ClinGen gnomAD |
|
|
CA1622369 rs746497426 |
1355 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA45613485 rs1000281182 |
1356 | Q>R | No |
ClinGen Ensembl |
|
|
rs982081090 CA45613482 |
1359 | I>V | No |
ClinGen TOPMed |
|
|
CA346340438 rs1413717015 |
1362 | P>A | No |
ClinGen gnomAD |
|
|
rs145000957 CA1622368 |
1362 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758056610 CA1622367 |
1363 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs188665211 CA346340413 |
1364 | I>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1622365 rs188665211 |
1364 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1622366 rs745547498 |
1364 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA1622361 rs756098789 |
1365 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753612064 CA1622364 |
1365 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs764067755 CA1622362 |
1365 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs753612064 CA1622363 |
1365 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA346340396 rs1558345787 |
1366 | L>V | No |
ClinGen Ensembl |
|
|
rs61757607 CA1622358 |
1368 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs767592310 CA1622359 |
1368 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA1622355 rs763345335 |
1369 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs766613892 CA1622356 |
1369 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs766613892 CA346340368 |
1369 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs763345335 CA346340366 |
1369 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1353582979 CA346340350 |
1371 | R>G | No |
ClinGen gnomAD |
|
|
rs770412329 CA1622353 |
1371 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1451273763 CA346340337 |
1372 | G>E | No |
ClinGen TOPMed |
|
|
CA346340341 rs1558345726 |
1372 | G>R | No |
ClinGen Ensembl |
|
|
CA45613421 rs369279079 |
1373 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1622352 rs369279079 |
1373 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1622351 rs369279079 |
1373 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745470225 CA1622349 |
1374 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756904918 CA1622347 |
1374 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756904918 CA1622348 |
1374 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745470225 CA1622350 |
1374 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1622346 rs749093048 |
1376 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA1622345 rs140503653 |
1379 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
No associated diseases with Q6P158
11 regional properties for Q6P158
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Zinc finger, CCCH-type | 299 - 326 | IPR000571 |
| domain | Helicase, C-terminal | 830 - 1010 | IPR001650 |
| conserved_site | DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site | 663 - 672 | IPR002464 |
| domain | RWD domain | 246 - 418 | IPR006575 |
| domain | Helicase-associated domain | 1035 - 1125 | IPR007502 |
| domain | DEAD/DEAH box helicase domain | 551 - 705 | IPR011545 |
| domain | DEAD-box helicase, OB fold | 1213 - 1310 | IPR011709 |
| domain | Helicase superfamily 1/2, ATP-binding domain | 542 - 730 | IPR014001 |
| domain | Ubiquitin-associated domain | 180 - 220 | IPR015940 |
| domain | E3 ligase, CCCH-type zinc finger | 304 - 323 | IPR041367 |
| domain | DHX57, UBA domain | 181 - 218 | IPR042615 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.6.4.13 | Acting on ATP; involved in cellular and subcellular movement |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
No GO annotations of cellular component
| Name | Definition |
|---|---|
| No GO annotations for cellular component |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP hydrolysis activity | Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient. |
| metal ion binding | Binding to a metal ion. |
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| RNA helicase activity | Unwinding of an RNA helix, driven by ATP hydrolysis. |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
10 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P43329 | hrpA | ATP-dependent RNA helicase HrpA | Escherichia coli (strain K12) | PR |
| O60231 | DHX16 | Pre-mRNA-splicing factor ATP-dependent RNA helicase DHX16 | Homo sapiens (Human) | PR |
| Q8IX18 | DHX40 | Probable ATP-dependent RNA helicase DHX40 | Homo sapiens (Human) | PR |
| Q7L7V1 | DHX32 | Putative pre-mRNA-splicing factor ATP-dependent RNA helicase DHX32 | Homo sapiens (Human) | PR |
| O43143 | DHX15 | ATP-dependent RNA helicase DHX15 | Homo sapiens (Human) | PR |
| Q9H2U1 | DHX36 | ATP-dependent DNA/RNA helicase DHX36 | Homo sapiens (Human) | PR |
| Q8IY37 | DHX37 | Probable ATP-dependent RNA helicase DHX37 | Homo sapiens (Human) | PR |
| Q92620 | DHX38 | Pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16 | Homo sapiens (Human) | PR |
| Q14BI7 | Tdrd9 | ATP-dependent RNA helicase TDRD9 | Mus musculus (Mouse) | PR |
| Q8VHK9 | Dhx36 | ATP-dependent DNA/RNA helicase DHX36 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSSSVRRKGK | PGKGGGKGSS | RGGRGGRSHA | SKSHGSGGGG | GGGGGGGGGN | RKASSRIWDD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GDDFCIFSES | RRPSRPSNSN | ISKGESRPKW | KPKAKVPLQT | LHMTSENQEK | VKALLRDLQE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QDADAGSERG | LSGEEEDDEP | DCCNDERYWP | AGQEPSLVPD | LDPLEYAGLA | SVEPYVPEFT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VSPFAVQKLS | RYGFNTERCQ | AVLRMCDGDV | GASLEHLLTQ | CFSETFGERM | KISEAVNQIS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LDECMEQRQE | EAFALKSICG | EKFIERIQNR | VWTIGLELEY | LTSRFRKSKP | KESTKNVQEN |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SLEICKFYLK | GNCKFGSKCR | FKHEVPPNQI | VGRIERSVDD | SHLNAIEDAS | FLYELEIRFS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KDHKYPYQAP | LVAFYSTNEN | LPLACRLHIS | EFLYDKALTF | AETSEPVVYS | LITLLEEESE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| IVKLLTNTHH | KYSDPPVNFL | PVPSRTRINN | PACHKTVIPN | NSFVSNQIPE | VEKASESEES |
| 490 | 500 | 510 | 520 | 530 | 540 |
| DEDDGPAPVI | VENESYVNLK | KKISKRYDWQ | AKSVHAENGK | ICKQFRMKQA | SRQFQSILQE |
| 550 | 560 | 570 | 580 | 590 | 600 |
| RQSLPAWEER | ETILNLLRKH | QVVVISGMTG | CGKTTQIPQF | ILDDSLNGPP | EKVANIICTQ |
| 610 | 620 | 630 | 640 | 650 | 660 |
| PRRISAISVA | ERVAKERAER | VGLTVGYQIR | LESVKSSATR | LLYCTTGVLL | RRLEGDTALQ |
| 670 | 680 | 690 | 700 | 710 | 720 |
| GVSHIIVDEV | HERTEESDFL | LLVLKDIVSQ | RPGLQVILMS | ATLNAELFSD | YFNSCPVITI |
| 730 | 740 | 750 | 760 | 770 | 780 |
| PGRTFPVDQF | FLEDAIAVTR | YVLQDGSPYM | RSMKQISKEK | LKARRNRTAF | EEVEEDLRLS |
| 790 | 800 | 810 | 820 | 830 | 840 |
| LHLQDQDSVK | DAVPDQQLDF | KQLLARYKGV | SKSVIKTMSI | MDFEKVNLEL | IEALLEWIVD |
| 850 | 860 | 870 | 880 | 890 | 900 |
| GKHSYPPGAI | LVFLPGLAEI | KMLYEQLQSN | SLFNNRRSNR | CVIHPLHSSL | SSEEQQAVFV |
| 910 | 920 | 930 | 940 | 950 | 960 |
| KPPAGVTKII | ISTNIAETSI | TIDDVVYVID | SGKMKEKRYD | ASKGMESLED | TFVSQANALQ |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| RKGRAGRVAS | GVCFHLFTSH | HYNHQLLKQQ | LPEIQRVPLE | QLCLRIKILE | MFSAHNLQSV |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| FSRLIEPPHT | DSLRASKIRL | RDLGALTPDE | RLTPLGYHLA | SLPVDVRIGK | LMLFGSIFRC |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| LDPALTIAAS | LAFKSPFVSP | WDKKEEANQK | KLEFAFANSD | YLALLQAYKG | WQLSTKEGVR |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| ASYNYCRQNF | LSGRVLQEMA | SLKRQFTELL | SDIGFAREGL | RAREIEKRAQ | GGDGVLDATG |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| EEANSNAENP | KLISAMLCAA | LYPNVVQVKS | PEGKFQKTST | GAVRMQPKSA | ELKFVTKNDG |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| YVHIHPSSVN | YQVRHFDSPY | LLYHEKIKTS | RVFIRDCSMV | SVYPLVLFGG | GQVNVQLQRG |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| EFVVSLDDGW | IRFVAASHQV | AELVKELRCE | LDQLLQDKIK | NPSIDLCTCP | RGSRIISTIV |
| KLVTTQ |