P16383
PR
Gene name |
GCFC2 (C2orf3, GCF, TCF9) |
Protein name |
Intron Large complex component GCFC2 |
Names |
IL-4 receptor subunit alpha, IL-4R subunit alpha, IL-4R-alpha, IL-4RA, GC-rich sequence DNA-binding factor, GC-rich sequence DNA-binding factor 2, Transcription factor 9, TCF-9 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6936 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for P16383
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P16383-F1 | Predicted | AlphaFoldDB |
687 variants for P16383
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA1733511 rs775627187 |
2 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA347406253 rs775627187 |
2 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA1733510 rs769889281 |
4 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769889281 CA347406230 |
4 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745912200 CA1733509 |
5 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA1733507 rs376090595 |
5 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1733508 rs376090595 |
5 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA50525967 rs915164652 |
7 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA347406183 rs1226785669 |
7 | R>S | No |
ClinGen gnomAD |
|
|
rs778641042 CA1733505 |
7 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1385572136 CA347406179 |
8 | T>P | No |
ClinGen gnomAD |
|
|
rs771059243 CA50525964 |
8 | T>S | No |
ClinGen Ensembl |
|
|
rs1337854117 CA347406137 |
9 | F>L | No |
ClinGen gnomAD |
|
|
CA347406121 rs1475095375 |
10 | R>P | No |
ClinGen gnomAD |
|
|
rs1447741378 CA347406127 |
10 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs953731171 CA50525963 |
11 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1357706856 CA347406105 |
11 | Q>P | No |
ClinGen gnomAD |
|
|
CA1733502 rs779812661 |
12 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1733503 rs779812661 |
12 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347406082 rs1369977916 |
12 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA347406073 rs755796921 |
13 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755796921 CA1733501 |
13 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA50525952 rs898737480 |
13 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs757768921 CA1733498 |
14 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs757768921 CA347406054 |
14 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1472303699 CA347405983 COSM224195 |
16 | S>F | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1325916878 CA347406000 |
16 | S>T | No |
ClinGen TOPMed |
|
|
rs1028429113 CA50525939 |
17 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1311225094 CA347405964 |
17 | S>R | No |
ClinGen TOPMed |
|
|
rs976431787 CA347405961 |
18 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA50525933 rs976431787 |
18 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA1733497 rs560694244 |
19 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs763259272 CA1733495 |
19 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA347405894 rs1273331767 |
20 | D>H | No |
ClinGen gnomAD |
|
|
CA347405891 rs1273331767 |
20 | D>N | No |
ClinGen gnomAD |
|
|
CA1733494 rs775724952 |
21 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA347405870 rs775724952 |
21 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1362289118 CA347405850 |
22 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1733493 rs765485907 |
22 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs866220300 CA50525927 |
23 | E>* | No |
ClinGen Ensembl |
|
|
rs1015341559 CA347405801 |
23 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA347405810 rs1050760449 |
23 | E>G | No |
ClinGen gnomAD |
|
|
CA50525925 rs1050760449 |
23 | E>V | No |
ClinGen gnomAD |
|
|
CA347405775 CA347405780 rs1370152429 |
24 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA347405790 rs1443159755 |
24 | E>V | No |
ClinGen gnomAD |
|
|
rs748040346 CA1733488 |
26 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA1733487 rs774286809 |
27 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866845112 CA50525887 |
28 | E>D | No |
ClinGen Ensembl |
|
|
CA1733486 rs768602835 |
30 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA1733485 rs749133443 |
31 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_051005 CA1733484 rs7559767 |
32 | P>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs755887367 CA1733483 |
32 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA50525871 rs1052943874 |
33 | R>T | No |
ClinGen Ensembl |
|
|
CA1733482 rs745527110 |
34 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347405595 rs745527110 |
34 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780569741 CA1733481 |
35 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs756730282 CA1733480 |
35 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs752025445 CA1733479 |
36 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA1733478 rs764549889 |
36 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs753112086 CA1733476 |
37 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs759823723 CA1733474 |
38 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347405492 rs1346175356 |
38 | P>L | No |
ClinGen gnomAD |
|
|
CA347405513 rs759823723 |
38 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347405474 rs1294074905 |
39 | G>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs935866262 CA50525846 |
41 | A>G | No |
ClinGen Ensembl |
|
|
rs1457565901 CA347405417 |
42 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs980388259 CA50525835 |
44 | E>* | No |
ClinGen Ensembl |
|
|
CA50525834 rs948648357 |
45 | P>R | No |
ClinGen gnomAD |
|
|
CA347405295 rs1190096215 |
46 | P>H | No |
ClinGen gnomAD |
|
|
CA347405298 rs1267394264 |
46 | P>S | No |
ClinGen gnomAD |
|
|
rs533418562 CA1733469 |
48 | G>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs749222869 CA347405256 |
48 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA347405257 rs533418562 |
48 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs749222869 CA1733468 |
48 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA347405228 rs1253594441 |
50 | G>C | No |
ClinGen TOPMed |
|
|
CA347405224 rs1328837307 |
50 | G>D | No |
ClinGen gnomAD |
|
|
CA347405214 rs1558759325 |
51 | R>C | No |
ClinGen Ensembl |
|
|
rs1225536565 CA347405190 |
52 | A>P | No |
ClinGen gnomAD |
|
|
CA1733467 rs562820871 |
52 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs769643744 CA1733466 |
53 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs745516362 CA1733465 |
54 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373676019 CA50525824 |
55 | A>T | No |
ClinGen Ensembl |
|
|
rs544539173 CA1733464 |
56 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA50525822 rs544539173 |
56 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs573969865 CA347405069 |
58 | P>H | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA50525814 rs573969865 |
58 | P>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA347405066 rs573969865 |
58 | P>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1387576249 CA347405074 |
58 | P>T | No |
ClinGen gnomAD |
|
|
CA50525811 rs906611086 |
59 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA347405005 rs1573104454 |
60 | R>P | No |
ClinGen Ensembl |
|
|
rs1174815712 CA347405022 |
60 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs777245822 CA1733461 |
61 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA1733462 rs10177030 |
61 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749551867 CA347404982 |
62 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs749551867 CA50525796 |
62 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1189717390 CA347404968 |
63 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs779255922 CA1733458 |
64 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779255922 CA347404958 |
64 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753199741 CA1733459 |
64 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753199741 CA347404962 |
64 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA50525785 rs540676907 |
65 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs540676907 CA1733456 |
65 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1733457 rs540676907 |
65 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1254669321 CA347404918 |
67 | R>W | No |
ClinGen TOPMed |
|
|
CA1733455 rs780484648 |
68 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1221809345 CA347404893 |
68 | G>V | No |
ClinGen gnomAD |
|
|
CA347404883 rs1231165904 |
69 | R>P | No |
ClinGen gnomAD |
|
|
CA347404885 rs1306629436 |
69 | R>W | No |
ClinGen gnomAD |
|
|
rs1297668647 CA347404836 |
71 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1229005959 CA347404783 |
74 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1229005959 CA347404781 |
74 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA347404794 rs1487070356 |
74 | S>P | No |
ClinGen TOPMed |
|
|
CA347404746 rs1558759077 |
76 | R>L | No |
ClinGen Ensembl |
|
|
rs1364332747 CA347404745 |
77 | A>S | No |
ClinGen gnomAD |
|
|
CA347404739 rs1295192222 |
77 | A>V | No |
ClinGen gnomAD |
|
|
rs1558759065 CA347404724 |
79 | K>E | No |
ClinGen Ensembl |
|
|
CA347404692 rs1432559447 |
81 | A>D | No |
ClinGen TOPMed |
|
|
rs1402556673 CA347404673 |
82 | P>L | No |
ClinGen gnomAD |
|
|
CA347404667 rs1173838337 |
83 | R>G | No |
ClinGen TOPMed |
|
|
CA50525778 rs1017107917 |
84 | A>V | No |
ClinGen TOPMed |
|
|
rs760785073 CA50525775 |
86 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1355730526 CA347404610 |
86 | E>G | No |
ClinGen gnomAD |
|
|
rs760785073 CA1733454 |
86 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1733435 rs756422813 |
90 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1573097855 CA347403052 |
91 | R>K | No |
ClinGen Ensembl |
|
|
rs943615652 CA50523969 |
92 | T>A | No |
ClinGen Ensembl |
|
|
rs1227352149 CA347402988 |
94 | D>V | No |
ClinGen gnomAD |
|
|
rs1326607072 CA347402975 |
95 | V>M | No |
ClinGen gnomAD |
|
|
rs752709632 CA1733431 |
96 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA347402952 rs1233325277 |
97 | T>A | No |
ClinGen gnomAD |
|
|
rs1322079017 CA347402901 |
100 | E>K | No |
ClinGen gnomAD |
|
|
CA1733428 rs370808862 |
101 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1320182975 CA347402860 |
102 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs770630200 CA1733427 |
102 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1455887581 CA347402857 |
102 | K>R | No |
ClinGen gnomAD |
|
|
rs1477698777 CA347402834 |
104 | H>P | No |
ClinGen gnomAD |
|
|
rs760382106 CA1733426 |
104 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA50523953 rs924827325 |
105 | H>D | No |
ClinGen TOPMed |
|
|
rs1466111583 CA347402794 |
106 | S>F | No |
ClinGen gnomAD |
|
|
COSM39904 rs771593992 CA1733424 |
108 | E>K | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA1733423 rs747618455 |
109 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1200538896 CA347402667 |
112 | D>V | No |
ClinGen gnomAD |
|
|
rs377430257 CA347402655 |
113 | Q>* | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
rs377430257 CA50523904 |
113 | Q>E | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
rs1273606434 CA347402639 |
114 | G>D | No |
ClinGen gnomAD |
|
|
rs1021030284 CA50523902 |
116 | S>F | No |
ClinGen Ensembl |
|
|
rs1486416862 CA347402595 |
117 | S>A | No |
ClinGen TOPMed |
|
|
rs769264003 CA1733421 |
119 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs547449604 CA50523901 |
119 | S>N | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA347402547 rs1267397886 |
120 | S>C | No |
ClinGen TOPMed |
|
|
CA347402540 rs1297398235 |
121 | S>G | No |
ClinGen gnomAD |
|
|
rs1335031982 CA347402513 |
122 | S>F | No |
ClinGen gnomAD |
|
|
CA1733419 rs780470265 |
122 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs756373820 CA1733418 |
124 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1413999402 CA347402489 |
124 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1733417 rs564944128 |
127 | E>* | No |
ClinGen 1000Genomes ExAC |
|
|
rs781520037 CA1733416 |
128 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs757518379 CA347402386 |
129 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1733415 rs757518379 |
129 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1481420256 CA347402395 |
129 | S>P | No |
ClinGen TOPMed |
|
|
CA50523858 rs914690978 |
130 | S>L | No |
ClinGen TOPMed |
|
|
rs969113876 CA50523880 |
130 | S>P | No |
ClinGen TOPMed |
|
| TCGA novel | 131 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1187772536 CA347402350 |
132 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA1733395 rs753111056 |
133 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA50521586 rs374713738 CA1733393 |
133 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1733391 rs758353644 |
135 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs372567462 CA1733390 |
137 | A>T | No |
ClinGen ESP ExAC TOPMed |
|
|
CA347400637 rs1208024738 |
140 | I>M | No |
ClinGen gnomAD |
|
|
CA1733389 rs766186523 |
141 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1733387 rs200742837 |
141 | Q>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1733388 rs200742837 |
141 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs906863862 CA50521561 |
142 | A>T | No |
ClinGen Ensembl |
|
|
rs570105893 CA1733386 |
143 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1733385 rs143731049 |
144 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1733384 rs41286007 |
144 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA50521527 rs968325168 |
147 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs763680113 CA1733383 |
147 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1048862635 CA50521512 |
148 | E>* | No |
ClinGen Ensembl |
|
|
CA1733382 rs529042774 |
148 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA50521501 rs931904789 |
150 | A>P | No |
ClinGen TOPMed |
|
|
CA347400371 rs1404475786 |
151 | R>G | No |
ClinGen gnomAD |
|
|
CA347400277 rs1427193470 |
154 | D>V | No |
ClinGen TOPMed |
|
|
rs1472650659 CA347400254 |
155 | D>G | No |
ClinGen gnomAD |
|
|
rs777207850 CA1733378 |
156 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1489787427 CA347400135 |
158 | S>F | No |
ClinGen gnomAD |
|
|
rs779008162 CA50521454 |
159 | L>W | No |
ClinGen Ensembl |
|
|
rs771358465 CA1733377 CA347400075 |
160 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1040111527 CA50521444 |
161 | V>E | No |
ClinGen Ensembl |
|
|
rs912551287 CA50521432 |
162 | Q>* | No |
ClinGen Ensembl |
|
|
CA50521428 rs1006920047 |
163 | H>Y | No |
ClinGen TOPMed |
|
|
CA1733376 rs747271307 |
165 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA1733374 rs772226894 |
167 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA50521424 rs891150583 |
167 | I>V | No |
ClinGen TOPMed |
|
|
rs1415660531 CA347399817 |
168 | S>T | No |
ClinGen TOPMed |
|
|
rs748217836 CA347399798 |
169 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748217836 CA1733373 |
169 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1286586748 CA347399761 |
170 | M>T | No |
ClinGen gnomAD |
|
|
rs1221007001 CA347399738 |
171 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA1733372 rs779029643 |
173 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs756110821 CA1733371 |
174 | S>N | No |
ClinGen ExAC |
|
|
rs750294560 CA1733368 |
175 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1391963081 CA347399616 |
176 | D>G | No |
ClinGen gnomAD |
|
|
CA347399597 rs914757672 |
177 | D>E | No |
ClinGen TOPMed |
|
|
CA50521397 rs776837194 |
177 | D>G | No |
ClinGen gnomAD |
|
|
CA347399572 rs1573090286 |
179 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 180 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756995647 CA1733366 |
180 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1558752247 CA347399508 |
181 | E>D | No |
ClinGen Ensembl |
|
|
CA347399461 rs1231396434 |
183 | D>E | No |
ClinGen TOPMed |
|
|
rs1416656266 CA347399455 |
184 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs751253356 CA50521392 |
185 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 185 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 185 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751253356 CA1733365 |
185 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762640508 CA1733363 |
186 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1733362 rs147376368 |
188 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147376368 CA347399363 |
188 | R>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1733361 rs201437822 |
190 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs760127314 CA1733360 |
191 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 194 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1733359 rs149519143 |
194 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760909768 CA1733357 |
195 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369145120 CA1733358 |
195 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774236115 CA50521352 |
196 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA1733356 rs773595265 |
196 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 197 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1044270354 CA50521346 |
198 | L>F | No |
ClinGen TOPMed |
|
|
rs1218617044 CA347399208 |
199 | R>G | No |
ClinGen gnomAD |
|
|
CA50521343 rs768600768 |
199 | R>S | No |
ClinGen gnomAD |
|
|
CA1733355 rs772232537 |
201 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1387461346 CA347399176 |
201 | R>M | No |
ClinGen gnomAD |
|
|
rs1467154637 CA347399152 |
202 | M>I | No |
ClinGen gnomAD |
|
|
rs748396854 CA1733354 |
202 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 204 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1733353 rs778967664 |
205 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1733317 rs756582508 |
207 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA347398218 rs1308078804 |
213 | T>I | No |
ClinGen gnomAD |
|
|
rs767794615 CA1733315 |
215 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA347398171 rs1191886968 |
215 | E>K | No |
ClinGen TOPMed |
|
|
CA1733314 rs554704253 |
216 | E>G | No |
ClinGen 1000Genomes ExAC |
|
|
CA347398130 rs1295723666 |
216 | E>K | No |
ClinGen gnomAD |
|
|
CA347398097 rs1368130193 |
217 | S>G | No |
ClinGen gnomAD |
|
|
CA1733312 rs774663797 |
217 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA1733310 rs764345529 |
218 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs200061030 CA1733309 |
219 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA50520433 rs964498450 |
224 | D>G | No |
ClinGen Ensembl |
|
|
CA347397834 rs1458676692 |
225 | T>A | No |
ClinGen TOPMed |
|
|
rs769849446 CA1733306 |
225 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA347397817 rs769849446 |
225 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA50520432 rs769849446 |
225 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA1733303 rs771797224 |
232 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA1733302 rs747997620 |
237 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778829722 CA1733301 |
238 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1366212419 CA347396251 |
240 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs367705553 CA1733283 |
240 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1195194 rs748968769 CA1733282 |
241 | R>G | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs779716968 CA1733281 |
243 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs865796135 CA50516127 |
243 | I>V | No |
ClinGen Ensembl |
|
|
CA1733280 rs769299199 |
244 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1466538086 CA347396196 |
245 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1191518509 CA347396184 |
246 | S>C | No |
ClinGen gnomAD |
|
|
CA1733279 rs745429265 |
246 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs780549625 CA1733278 |
247 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA347396158 rs1558747682 |
248 | G>V | No |
ClinGen Ensembl |
|
|
CA347396151 rs7560262 |
249 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1733276 rs7560262 VAR_051006 |
249 | N>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs7560262 CA347396153 |
249 | N>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 250 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1280190079 CA347396106 |
252 | S>L | No |
ClinGen gnomAD |
|
|
rs1200521688 CA347396092 |
254 | V>M | No |
ClinGen gnomAD |
|
|
rs937545196 CA50516076 |
255 | K>R | No |
ClinGen Ensembl |
|
|
rs1231097913 CA347396023 |
257 | F>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs758715950 CA1733273 |
258 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs758715950 CA347396000 |
258 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1177695892 CA347395921 |
262 | S>T | No |
ClinGen TOPMed |
|
|
CA1733272 rs140484703 |
264 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA50516059 rs201571219 |
264 | P>S | No |
ClinGen 1000Genomes |
|
|
rs1346312730 CA347395827 |
265 | P>Q | No |
ClinGen TOPMed |
|
|
rs1160921909 CA347395836 |
265 | P>T | No |
ClinGen TOPMed |
|
|
CA347395821 rs1263710547 |
266 | V>I | No |
ClinGen gnomAD |
|
|
CA1733269 rs754008555 |
271 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1291847219 CA347395742 |
272 | K>E | No |
ClinGen TOPMed |
|
|
rs1374784770 CA347395714 |
274 | Q>* | No |
ClinGen gnomAD |
|
|
rs1369908019 CA347395704 |
274 | Q>H | No |
ClinGen TOPMed |
|
|
rs766366383 CA1733268 |
274 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1308869281 CA347395644 |
278 | R>G | No |
ClinGen TOPMed |
|
|
CA347395642 rs1374326470 |
278 | R>K | No |
ClinGen TOPMed |
|
|
rs1041581878 CA50514682 CA347394540 |
279 | L>* | No |
ClinGen TOPMed |
|
|
rs867889039 CA50514639 |
283 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1165139235 CA347394408 |
283 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1733249 rs755296720 |
284 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA347394343 rs1415081033 |
286 | H>D | No |
ClinGen gnomAD |
|
|
COSM1198690 CA1733248 rs374711307 |
287 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA50514635 rs768819747 |
287 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA347394315 rs374711307 |
287 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1573076447 CA347394290 |
288 | S>A | No |
ClinGen Ensembl |
|
|
rs1278145008 CA347394234 |
290 | L>P | No |
ClinGen TOPMed |
|
|
rs750499554 CA1733245 |
292 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756219986 CA1733246 |
292 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1733244 rs764174642 |
293 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1426336034 CA347394159 |
294 | E>V | No |
ClinGen TOPMed |
|
|
CA1733243 rs143334710 |
295 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1733242 rs147763714 |
296 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA50514565 rs892318087 |
296 | Y>H | No |
ClinGen Ensembl |
|
|
CA1733240 COSM196306 rs373951174 |
297 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA50514541 rs533618591 |
298 | Q>* | No |
ClinGen Ensembl |
|
| TCGA novel | 298 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347394043 rs1373975813 |
301 | K>R | No |
ClinGen gnomAD |
|
|
CA50514540 rs940472325 |
302 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA1733238 rs371731404 |
303 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347393992 rs1453788107 |
304 | K>E | No |
ClinGen gnomAD |
|
|
CA347393924 rs1351368792 |
307 | I>M | No |
ClinGen gnomAD |
|
|
CA1733237 rs746565943 |
307 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA1733236 rs772690949 |
308 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1460645988 CA347393911 |
308 | Q>H | No |
ClinGen gnomAD |
|
|
rs1380724305 CA347393915 |
308 | Q>R | No |
ClinGen TOPMed |
|
|
CA347393885 rs772625457 |
311 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1733235 rs772625457 |
311 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1326766595 CA347393872 |
312 | S>G | No |
ClinGen TOPMed |
|
| TCGA novel | 313 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748600034 CA1733234 |
313 | S>P | No |
ClinGen ExAC gnomAD |
|
|
VAR_051007 rs6742946 CA1733232 |
316 | Q>E | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA347393717 rs1349949108 |
320 | C>Y | No |
ClinGen TOPMed |
|
|
rs755242520 CA1733229 |
325 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs749553389 CA347393541 |
328 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1733227 rs780462921 |
329 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA347393526 rs780462921 |
329 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs1304932102 CA347393534 |
329 | Y>H | No |
ClinGen TOPMed |
|
|
rs1209459114 CA347393518 |
330 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA1733203 rs749662337 |
341 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1162494924 CA347392623 |
342 | I>M | No |
ClinGen TOPMed |
|
|
rs867639195 CA50512753 |
343 | N>K | No |
ClinGen gnomAD |
|
|
rs139346154 CA50512754 |
343 | N>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA50512755 rs139346154 |
343 | N>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA50512752 rs375335813 |
345 | Q>* | No |
ClinGen ESP TOPMed |
|
|
CA1733202 rs780552933 |
346 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1173535348 CA347392582 |
346 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1733201 rs569317467 |
347 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1733200 rs569317467 |
347 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 349 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1733199 rs141804437 |
349 | S>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1057110500 CA50512713 COSM1023143 |
350 | S>Y | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1259914107 CA347392512 |
351 | M>I | No |
ClinGen gnomAD |
|
|
CA1733198 rs757233841 |
351 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs752714708 CA1733197 |
352 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA50512672 rs1003240184 |
354 | L>F | No |
ClinGen TOPMed |
|
|
CA50512659 rs879230327 |
355 | L>P | No |
ClinGen Ensembl |
|
| TCGA novel | 359 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347392378 rs1210117182 |
360 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs139984043 CA1733194 |
365 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1733193 rs766158702 |
365 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766158702 CA347392287 |
365 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 365 | R>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760324849 CA1733192 |
369 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347392146 rs1174275403 |
372 | H>R | No |
ClinGen gnomAD |
|
|
CA1733186 rs769100846 |
375 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1733185 rs370930629 |
375 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347392079 rs769100846 |
375 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1733183 rs201024287 |
378 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1009145109 CA50512622 |
379 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA347392004 rs1417278019 |
379 | Q>H | No |
ClinGen gnomAD |
|
|
rs746112599 CA1733182 |
379 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1239385241 CA347391999 |
380 | L>* | No |
ClinGen Ensembl |
|
|
CA1733180 rs150231603 |
381 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA50512611 rs191095173 |
382 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1733178 rs191095173 |
382 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs979899238 CA50511550 |
383 | K>N | No |
ClinGen TOPMed |
|
|
CA347391417 rs1406421999 |
384 | D>G | No |
ClinGen TOPMed |
|
|
CA1733154 rs756021130 |
384 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA347391400 rs1334446948 |
385 | E>G | No |
ClinGen gnomAD |
|
|
CA347391385 rs1306090735 |
386 | T>I | No |
ClinGen gnomAD |
|
|
CA1733153 rs745720073 |
387 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs781036279 CA1733152 |
388 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs151334938 CA1733149 |
391 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757938461 CA1733148 |
394 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 396 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1021435774 CA50511474 |
396 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1011404327 CA50511473 |
396 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs752221205 CA1733147 |
398 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347391175 COSM1669096 rs1290310150 |
400 | W>* | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
COSM1669096 rs1191398388 CA347391167 |
400 | W>* | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA347391173 rs1290310150 |
400 | W>S | No |
ClinGen TOPMed |
|
|
rs891027798 CA347391104 |
405 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs891027798 CA50511463 |
405 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
COSM1023142 rs760110851 CA1733144 |
408 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA347391066 rs760110851 |
408 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs144019540 CA1733143 COSM1246792 |
408 | R>Q | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
| TCGA novel | 409 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1181152776 CA347390782 |
415 | A>V | No |
ClinGen TOPMed |
|
|
rs761063205 CA1733120 |
416 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347390774 rs761063205 |
416 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767782624 CA1733118 |
417 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA1733116 rs762015066 |
418 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 418 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 419 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 423 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs41286005 CA1733114 |
425 | Q>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs41286005 CA1733113 |
425 | Q>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs773319310 CA50510907 |
425 | Q>R | No |
ClinGen Ensembl |
|
|
CA347390608 rs1475168127 |
427 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA347390605 rs1475168127 |
427 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1187973947 CA347390615 |
427 | G>R | No |
ClinGen gnomAD |
|
|
rs1256015956 CA347390587 |
428 | T>I | No |
ClinGen gnomAD |
|
|
rs1207129849 CA347390577 |
429 | S>T | No |
ClinGen gnomAD |
|
|
CA347390563 rs1460761401 |
430 | S>G | No |
ClinGen TOPMed |
|
|
CA1733112 rs759414390 |
432 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs776590346 CA1733111 |
436 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1194320332 CA347390445 |
436 | S>L | No |
ClinGen gnomAD |
|
|
CA347390430 rs1558742638 |
437 | A>G | No |
ClinGen Ensembl |
|
|
CA1733110 rs770740579 |
438 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA50510869 rs981768015 |
439 | M>I | No |
ClinGen Ensembl |
|
|
CA1733109 rs762980355 |
440 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1733108 rs777698806 |
441 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA347390314 rs1354807384 |
442 | F>I | No |
ClinGen gnomAD |
|
|
CA347390296 rs1282334063 |
442 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1444161869 CA347390293 |
443 | Q>* | No |
ClinGen gnomAD |
|
|
CA347390294 rs1444161869 |
443 | Q>E | No |
ClinGen gnomAD |
|
|
rs771918672 CA1733107 |
444 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1327882570 CA347390220 |
446 | Q>H | No |
ClinGen gnomAD |
|
|
CA347390228 rs1334704613 |
446 | Q>R | No |
ClinGen TOPMed |
|
|
CA347389575 rs1265682518 |
447 | G>D | No |
ClinGen TOPMed |
|
|
CA347390218 rs1463744691 |
447 | G>S | No |
ClinGen gnomAD |
|
|
CA347389568 rs1558742134 |
448 | D>N | No |
ClinGen Ensembl |
|
|
rs771935211 CA1733089 |
449 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA1733088 rs187749452 |
451 | Q>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA347389496 rs1283452220 |
452 | K>E | No |
ClinGen gnomAD |
|
|
rs1371586137 CA347389134 |
455 | K>E | No |
ClinGen TOPMed |
|
|
CA347389124 rs1349830795 |
455 | K>N | No |
ClinGen gnomAD |
|
|
rs1303818688 CA347389120 |
456 | V>D | No |
ClinGen gnomAD |
|
|
CA1733086 rs768166710 |
457 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1558742082 CA347389103 |
458 | E>K | No |
ClinGen Ensembl |
|
|
rs1478976305 CA347389071 |
459 | E>D | No |
ClinGen TOPMed |
|
|
CA347389063 rs1364974262 |
460 | V>G | No |
ClinGen gnomAD |
|
|
rs1352989846 CA347389058 |
461 | Q>* | No |
ClinGen gnomAD |
|
|
rs568695239 CA347389056 |
461 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA1733085 rs568695239 |
461 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA1733083 rs150597064 |
463 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1733081 rs781555553 |
465 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347388951 CA347388950 rs1360812449 |
468 | Q>H | No |
ClinGen TOPMed |
|
|
rs1431661849 CA347388940 |
470 | I>V | No |
ClinGen gnomAD |
|
|
rs757577941 CA1733079 |
475 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs764347758 CA1733078 |
478 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764347758 CA1733077 |
478 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347388815 rs1485569819 |
478 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs763071182 CA1733076 |
479 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA347388762 rs1486579995 |
481 | F>L | No |
ClinGen gnomAD |
|
|
rs1573067776 CA347388757 |
482 | P>S | No |
ClinGen Ensembl |
|
|
CA1733075 rs752890659 |
483 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1573067767 CA347388725 |
484 | S>A | No |
ClinGen Ensembl |
|
|
CA1733072 rs375499685 |
485 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760676520 CA1733073 |
485 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA1733070 rs753947596 |
486 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753947596 CA50510223 |
486 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1733068 rs768415738 |
488 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1376522287 CA347388653 |
488 | A>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 489 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA347388636 rs1312721184 |
490 | I>V | No |
ClinGen gnomAD |
|
|
CA347388621 rs1558741938 |
491 | S>C | No |
ClinGen Ensembl |
|
|
CA347388601 rs1573067708 |
492 | L>* | No |
ClinGen Ensembl |
|
|
rs775075253 CA1733066 |
492 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 492 | L>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866070892 CA50510208 |
493 | C>F | No |
ClinGen Ensembl |
|
|
CA347388575 rs1460130562 |
493 | C>R | No |
ClinGen gnomAD |
|
|
CA347388552 rs1428093104 |
494 | I>M | No |
ClinGen gnomAD |
|
|
CA347388558 rs1171356058 |
494 | I>T | No |
ClinGen gnomAD |
|
|
rs769133541 CA1733065 |
499 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA1733064 rs148728322 |
500 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1733063 rs148728322 |
500 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1160002593 CA347388438 |
502 | I>M | No |
ClinGen TOPMed |
|
|
rs367659517 CA50510183 |
503 | R>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA347388436 rs367659517 |
503 | R>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA1733059 rs374515599 |
503 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1204802819 CA347388405 |
505 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA50510173 rs200449700 |
505 | Q>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA1733057 rs765381780 |
508 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1733056 rs755073500 |
509 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs368061721 CA1733055 |
510 | N>T | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 511 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767615422 CA347388306 |
512 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1733054 rs767615422 |
512 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771492243 CA1733044 |
514 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1391169438 CA347388129 |
515 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA347388119 rs1375020107 |
515 | E>D | No |
ClinGen gnomAD |
|
|
rs1391169438 CA347388128 |
515 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA347388105 rs1328134130 |
516 | S>Y | No |
ClinGen gnomAD |
|
|
rs1257396457 CA347387844 |
521 | E>D | No |
ClinGen TOPMed |
|
|
CA1733043 rs747452357 |
522 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA1733042 rs374198766 |
523 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1180041764 CA347387789 |
525 | F>L | No |
ClinGen TOPMed |
|
|
CA50509534 rs758641967 |
526 | K>I | No |
ClinGen ExAC gnomAD |
|
|
CA1733041 rs758641967 |
526 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA347387763 rs1573066029 |
527 | S>P | No |
ClinGen Ensembl |
|
|
CA1733040 rs748433829 |
528 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347387724 rs1187198748 |
529 | E>K | No |
ClinGen TOPMed |
|
|
rs370757430 CA1733039 |
530 | E>Q | No |
ClinGen ESP ExAC |
|
|
CA347387543 rs1228332356 |
533 | D>E | No |
ClinGen gnomAD |
|
|
CA347387568 rs1159637331 |
533 | D>G | No |
ClinGen gnomAD |
|
|
CA1733036 rs754032301 |
533 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1733037 rs754032301 |
533 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1733035 rs766565881 |
535 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA1733034 rs757271919 |
536 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1299985556 CA347387476 |
537 | E>K | No |
ClinGen TOPMed |
|
|
rs1299985556 CA347387481 |
537 | E>Q | No |
ClinGen TOPMed |
|
|
rs763977672 CA1733032 |
538 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA347387458 rs1397403067 |
538 | D>N | No |
ClinGen TOPMed |
|
|
CA347387421 CA1733031 rs762696119 |
539 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762696119 CA347387418 |
539 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347387320 rs1310247926 |
543 | S>G | No |
ClinGen TOPMed |
|
|
CA1733030 rs201521372 |
543 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA347386929 rs1261804896 |
549 | V>A | No |
ClinGen gnomAD |
|
|
rs757231207 TCGA novel |
549 | V>S | Variant assessed as Somatic; 0.0 impact. Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1437235460 CA347386881 |
550 | L>* | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 551 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1733027 rs759183885 |
552 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759183885 CA347386812 |
552 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs41286003 CA1733025 |
553 | I>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1733026 rs138941027 |
553 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA50509455 rs201807357 |
557 | T>I | No |
ClinGen 1000Genomes gnomAD |
|
|
rs773553740 CA347386673 |
558 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1733023 rs773553740 |
558 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347386647 rs1378272417 |
559 | I>T | No |
ClinGen gnomAD |
|
|
CA1733022 rs140271309 |
561 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA347386600 rs1476389758 |
561 | R>Q | No |
ClinGen TOPMed |
|
|
rs1423465662 CA347386532 |
563 | T>K | No |
ClinGen TOPMed |
|
|
rs1423465662 CA347386531 |
563 | T>R | No |
ClinGen TOPMed |
|
|
rs759200662 CA1733008 |
567 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1417963915 CA347410260 |
569 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1476162910 CA347410250 |
570 | W>* | No |
ClinGen gnomAD |
|
|
rs895067429 CA50564639 |
573 | L>F | No |
ClinGen Ensembl |
|
|
CA1733004 rs145081957 |
575 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145081957 CA1733005 |
575 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1733003 rs371161074 |
576 | S>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs898818689 CA50564617 |
577 | Q>R | No |
ClinGen TOPMed |
|
|
rs139202432 CA1733001 |
578 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA347410191 rs1558736689 COSM196303 |
580 | S>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA50564592 rs1037493089 |
584 | H>R | No |
ClinGen TOPMed |
|
|
rs780460875 CA50564582 |
588 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347410136 rs1257584241 |
588 | I>T | No |
ClinGen gnomAD |
|
|
rs780460875 CA1732997 |
588 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 589 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1308475751 CA347410128 |
589 | L>R | No |
ClinGen TOPMed |
|
|
CA347410108 rs1216863985 |
592 | H>L | No |
ClinGen gnomAD |
|
|
rs770117961 CA1732996 |
593 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1573055770 CA347410102 |
593 | S>P | No |
ClinGen Ensembl |
|
|
rs6722682 VAR_051008 CA1732994 |
594 | T>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs116215825 CA1732992 |
595 | C>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1487948308 CA347410062 |
599 | V>I | No |
ClinGen TOPMed |
|
|
CA1732990 rs754728212 |
600 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs753601145 CA1732989 |
602 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA50564551 rs940792754 |
604 | Q>* | No |
ClinGen gnomAD |
|
|
rs766072910 CA1732988 |
604 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA347409444 rs369609416 |
605 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1732961 rs369609416 |
605 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1732958 rs776875180 |
609 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1732957 rs771028343 |
610 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1455800919 CA347409403 |
611 | V>F | No |
ClinGen gnomAD |
|
|
CA1732955 rs773270366 |
612 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs78073043 CA50560680 |
614 | M>I | No |
ClinGen Ensembl |
|
|
CA1732954 rs768652148 |
614 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347409384 rs768652148 |
614 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 617 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1217885254 CA347409360 |
617 | A>V | No |
ClinGen gnomAD |
|
|
CA347409358 rs1313706022 |
618 | V>I | No |
ClinGen gnomAD |
|
|
CA1732949 rs377143656 |
622 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1732947 rs745616512 |
625 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA1732946 rs780942499 |
627 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1371386375 CA347409286 |
628 | P>L | No |
ClinGen gnomAD |
|
|
CA347409276 rs1573047532 |
630 | S>G | No |
ClinGen Ensembl |
|
|
CA50559145 rs200603236 |
632 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs766589269 CA1732915 |
632 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1732914 rs760905013 |
638 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1255543802 CA347408587 |
641 | K>E | No |
ClinGen gnomAD |
|
|
rs750598770 CA1732913 |
642 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs141752962 RCV000885122 CA1732912 |
644 | E>G | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs761925299 CA1732911 |
645 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA50559124 rs1027961975 |
648 | W>* | No |
ClinGen TOPMed |
|
|
CA347408503 rs1375860013 |
649 | S>A | No |
ClinGen gnomAD |
|
|
CA1732910 rs774279515 |
651 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA50559107 rs867007440 |
652 | K>N | No |
ClinGen Ensembl |
|
|
CA50558090 rs141908752 |
653 | L>I | No |
ClinGen Ensembl |
|
|
CA1732892 rs750759938 |
655 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347408193 rs750759938 |
655 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM279376 rs767780666 CA1732891 |
655 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA50558064 rs969830673 |
656 | N>S | No |
ClinGen Ensembl |
|
|
rs764021591 CA1732888 |
657 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs751660637 CA1732889 |
657 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs759540545 CA1732887 |
658 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 662 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 663 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1732886 rs776391955 |
663 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs1408082746 CA347408055 |
666 | D>N | No |
ClinGen TOPMed |
|
|
CA1732884 rs554883127 |
666 | D>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1732882 rs773129838 |
668 | T>I | No |
ClinGen ExAC TOPMed |
|
|
CA347408028 rs1281105268 |
669 | L>F | No |
ClinGen gnomAD |
|
|
rs1201257718 CA347408025 |
670 | Q>K | No |
ClinGen gnomAD |
|
|
rs1558730749 CA347408000 |
673 | G>V | No |
ClinGen Ensembl |
|
|
CA50558013 rs765609796 |
675 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA347407986 rs1291030015 |
676 | K>R | No |
ClinGen TOPMed |
|
|
rs144822009 CA1732880 |
679 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs773928373 COSM1023138 CA1732879 |
680 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs768007297 CA1732878 |
680 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347407950 rs1399277984 |
681 | Y>* | No |
ClinGen gnomAD |
|
|
CA1732877 rs749836394 |
682 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA50557958 rs1025902344 |
683 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs760116513 CA50557963 |
683 | I>T | No |
ClinGen gnomAD |
|
|
CA1732875 rs200761954 |
687 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs73936776 CA1732874 |
688 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1477093512 CA347407840 |
689 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs757513472 CA1732872 |
690 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777166372 CA1732871 |
691 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1442117100 CA347407821 |
691 | P>R | No |
ClinGen gnomAD |
|
|
CA50557935 rs777166372 |
691 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347407827 rs777166372 |
691 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147857608 CA1732869 |
692 | G>E | No |
ClinGen ESP ExAC TOPMed |
|
| TCGA novel | 693 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs189908619 CA1732868 |
694 | D>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs373361292 CA1732867 |
695 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA50557916 rs563568870 |
696 | V>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1732865 rs563568870 |
696 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs889472286 CA50557914 |
698 | K>N | No |
ClinGen Ensembl |
|
| TCGA novel | 698 | K>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA50557909 rs767366248 |
700 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs767366248 CA1732864 |
700 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs548540488 CA1732861 |
701 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1355409218 CA347406923 |
703 | A>V | No |
ClinGen gnomAD |
|
|
rs758633267 CA1732849 |
704 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1307966115 CA347406902 |
705 | C>* | No |
ClinGen gnomAD |
|
|
CA1732848 rs752893607 |
705 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA50555210 rs1008527800 |
706 | L>P | No |
ClinGen Ensembl |
|
|
rs756136177 CA1732846 |
711 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 714 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs536899063 CA1732842 |
716 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1732844 rs767380900 |
716 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA1732843 rs760448924 |
716 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA347406740 rs1278444637 |
720 | I>T | No |
ClinGen TOPMed |
|
|
rs557806088 CA1732840 |
720 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs762597560 CA1732839 |
722 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs17690300 VAR_051009 CA1732838 |
724 | E>D | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA347406689 rs1247318204 |
725 | N>S | No |
ClinGen gnomAD |
|
|
rs1321710477 CA347406672 |
727 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1321710477 CA347406670 |
727 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1732836 rs141965995 |
728 | Q>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs777162194 CA347406654 CA1732835 |
728 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1289408116 CA347406659 |
728 | Q>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 730 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747392104 CA1732833 |
732 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA1732832 rs778195806 |
732 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1732831 rs368712901 |
735 | H>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368712901 CA1732830 |
735 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 736 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1732829 rs779159218 |
738 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1274861988 CA347406547 |
738 | S>P | No |
ClinGen gnomAD |
|
|
CA347406548 rs1274861988 |
738 | S>T | No |
ClinGen gnomAD |
|
|
CA50555073 rs950086376 |
739 | R>T | No |
ClinGen gnomAD |
|
|
CA1732828 rs755071622 |
740 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA1732826 rs568728615 |
742 | F>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 742 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1732825 rs757210889 |
743 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1202598031 CA347406416 |
743 | R>S | No |
ClinGen gnomAD |
|
|
CA1732804 rs376319189 |
744 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1732803 rs752466058 |
745 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 745 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA50554219 rs886789756 |
746 | V>A | No |
ClinGen TOPMed |
|
|
CA1732800 rs753292890 |
747 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765858726 CA1732798 |
749 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA347405991 rs1230362320 |
749 | I>T | No |
ClinGen gnomAD |
|
|
CA347405998 rs1293946631 |
749 | I>V | No |
ClinGen gnomAD |
|
|
CA1732797 rs184153482 |
750 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1450657323 CA347405951 |
751 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA347405954 rs1450657323 |
751 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs773732020 CA1732796 |
752 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs146408171 CA1732794 |
758 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs202236907 CA50554174 |
758 | A>P | No |
ClinGen 1000Genomes gnomAD |
|
|
CA347405745 rs1372406861 |
759 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs138507763 CA1732793 |
760 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1168108151 CA347405733 |
760 | N>S | No |
ClinGen gnomAD |
|
|
CA347405705 rs1414193140 |
761 | Q>E | No |
ClinGen gnomAD |
|
|
rs1182615006 CA347405669 |
762 | A>G | No |
ClinGen gnomAD |
|
|
CA1732792 rs774847202 |
763 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs370736739 CA1732790 |
766 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA347405484 rs949088372 |
769 | H>P | No |
ClinGen TOPMed |
|
|
CA50554133 rs949088372 |
769 | H>R | No |
ClinGen TOPMed |
|
|
rs769876031 CA1732788 |
771 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs374386685 CA1732789 |
771 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA347405238 rs1244061353 |
778 | I>T | No |
ClinGen gnomAD |
|
|
rs777814462 CA1732783 |
780 | E>G | No |
ClinGen ExAC gnomAD |
No associated diseases with P16383
1 regional properties for P16383
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | GCF, C-terminal | 468 - 682 | IPR022783 |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| U2-type post-mRNA release spliceosomal complex | A spliceosomal complex that is formed following the release of the spliced product from the post-spliceosomal complex and contains the excised intron and the U2, U5 and U6 snRNPs. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| mRNA splicing, via spliceosome | The joining together of exons from one or more primary transcripts of messenger RNA (mRNA) and the excision of intron sequences, via a spliceosomal mechanism, so that mRNA consisting only of the joined exons is produced. |
| negative regulation of DNA-templated transcription | Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription. |
| regulation of DNA-templated transcription | Any process that modulates the frequency, rate or extent of cellular DNA-templated transcription. |
| spliceosomal complex assembly | The aggregation, arrangement and bonding together of a spliceosomal complex, a ribonucleoprotein apparatus that catalyzes nuclear mRNA splicing via transesterification reactions. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAHRPKRTFR | QRAADSSDSD | GAEESPAEPG | APRELPVPGS | AEEEPPSGGG | RAQVAGLPHR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VRGPRGRGRV | WASSRRATKA | APRADEGSES | RTLDVSTDEE | DKIHHSSESK | DDQGLSSDSS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SSLGEKELSS | TVKIPDAAFI | QAARRKRELA | RAQDDYISLD | VQHTSSISGM | KRESEDDPES |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EPDDHEKRIP | FTLRPQTLRQ | RMAEESISRN | EETSEESQED | EKQDTWEQQQ | MRKAVKIIEE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RDIDLSCGNG | SSKVKKFDTS | ISFPPVNLEI | IKKQLNTRLT | LLQETHRSHL | REYEKYVQDV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| KSSKSTIQNL | ESSSNQALNC | KFYKSMKIYV | ENLIDCLNEK | IINIQEIESS | MHALLLKQAM |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TFMKRRQDEL | KHESTYLQQL | SRKDETSTSG | NFSVDEKTQW | ILEEIESRRT | KRRQARVLSG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| NCNHQEGTSS | DDELPSAEMI | DFQKSQGDIL | QKQKKVFEEV | QDDFCNIQNI | LLKFQQWREK |
| 490 | 500 | 510 | 520 | 530 | 540 |
| FPDSYYEAFI | SLCIPKLLNP | LIRVQLIDWN | PLKLESTGLK | EMPWFKSVEE | FMDSSVEDSK |
| 550 | 560 | 570 | 580 | 590 | 600 |
| KESSSDKKVL | SAIINKTIIP | RLTDFVEFLW | DPLSTSQTTS | LITHCRVILE | EHSTCENEVS |
| 610 | 620 | 630 | 640 | 650 | 660 |
| KSRQDLLKSI | VSRMKKAVED | DVFIPLYPKS | AVENKTSPHS | KFQERQFWSG | LKLFRNILLW |
| 670 | 680 | 690 | 700 | 710 | 720 |
| NGLLTDDTLQ | ELGLGKLLNR | YLIIALLNAT | PGPDVVKKCN | QVAACLPEKW | FENSAMRTSI |
| 730 | 740 | 750 | 760 | 770 | 780 |
| PQLENFIQFL | LQSAHKLSRS | EFRDEVEEII | LILVKIKALN | QAESFIGEHH | LDHLKSLIKE |
| D |