Q96M69
PR
Gene name |
LRGUK |
Protein name |
Leucine-rich repeat and guanylate kinase domain-containing protein |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:136332 |
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 Q96M69
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q96M69-F1 | Predicted | AlphaFoldDB |
748 variants for Q96M69
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA369307456 rs1396597815 |
2 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA369307461 rs1447027514 |
2 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1585398593 CA369307472 |
4 | S>F | No |
ClinGen Ensembl |
|
|
CA369307468 rs1214514539 |
4 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA4491994 rs764899422 |
5 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA4491993 rs759160061 |
5 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753009875 CA4491995 |
6 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763281518 CA4491996 |
6 | R>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs753009875 CA369307483 |
6 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4491999 rs1554449293 |
7 | A>G | No |
ClinGen Ensembl |
|
|
rs764509387 CA369307486 |
7 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4491997 rs764509387 |
7 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554449293 CA4491998 |
7 | A>V | No |
ClinGen Ensembl |
|
|
rs201330287 CA4492001 |
8 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4492003 rs201090054 |
8 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201330287 CA4492002 |
8 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs961788743 CA166950282 |
9 | L>Q | No |
ClinGen Ensembl |
|
|
rs756314029 CA4492005 |
10 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1218253947 CA369307501 |
11 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA369307503 rs1218253947 |
11 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4492008 rs758259316 |
12 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369307514 rs548803324 |
13 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4492009 rs548803324 |
13 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs746904615 CA4492010 |
14 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA4492011 rs770777112 |
15 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA4492012 rs776165105 |
15 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770777112 CA369307524 |
15 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA166950316 rs947718410 |
16 | L>F | No |
ClinGen TOPMed |
|
|
rs1027474711 CA166950322 |
17 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA369307541 rs1027474711 |
17 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA369307545 rs1420461187 |
18 | R>G | No |
ClinGen gnomAD |
|
|
CA4492014 rs143684679 |
18 | R>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA369307559 rs1344300951 |
19 | G>R | No |
ClinGen gnomAD |
|
|
rs1585398971 CA369307579 |
20 | L>F | No |
ClinGen Ensembl |
|
|
CA166950335 rs991691193 |
21 | G>C | No |
ClinGen Ensembl |
|
| TCGA novel | 22 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369307605 rs1442317861 |
23 | S>T | No |
ClinGen gnomAD |
|
|
rs775119769 CA4492016 |
23 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs144938746 CA4492018 |
24 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4492017 rs144938746 |
24 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1346085114 COSM1448170 CA369307629 |
24 | R>Q | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1052612422 CA166950368 |
25 | T>A | No |
ClinGen TOPMed |
|
|
CA4492019 rs774585036 |
25 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA4492021 rs767934008 |
26 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA369307656 rs1275178958 |
26 | G>R | No |
ClinGen gnomAD |
|
|
CA166950408 rs767934008 |
26 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA369307694 rs1428350728 |
29 | S>* | No |
ClinGen TOPMed |
|
|
rs750992595 CA4492022 |
29 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA4492024 rs147918797 |
31 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 31 | Q>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369154327 CA4492025 |
33 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1471434572 CA369307749 |
33 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1471434572 CA369307751 |
33 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs112091184 CA369307761 COSM204302 |
34 | A>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs112091184 CA4492026 COSM3698184 |
34 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA4492027 rs372829275 |
34 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA166950449 rs1011123370 |
36 | K>E | No |
ClinGen TOPMed |
|
|
CA4492028 rs201945998 |
38 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201945998 CA369307820 |
38 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4492029 COSM204303 rs757168128 |
39 | Q>R | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs780968750 CA4492030 |
41 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs1350077713 CA369307895 |
42 | W>C | No |
ClinGen gnomAD |
|
|
CA369307901 rs1408257555 |
43 | S>A | No |
ClinGen gnomAD |
|
|
rs769281860 CA4492033 |
46 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA4492032 rs745858047 |
46 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA166950491 rs538610717 |
46 | M>V | No |
ClinGen 1000Genomes |
|
|
CA369308001 rs774994991 |
48 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs774994991 CA4492034 |
48 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs145443851 CA369308002 |
48 | Q>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs145443851 CA4492035 |
48 | Q>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4492036 rs768330874 |
49 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs201516998 CA166950539 |
50 | T>M | No |
ClinGen 1000Genomes gnomAD |
|
|
CA369308058 rs1481848247 |
51 | K>N | No |
ClinGen gnomAD |
|
|
CA369308054 rs1563129343 |
51 | K>R | No |
ClinGen Ensembl |
|
|
rs774731764 CA4492037 |
52 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs767969993 CA4492039 |
53 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1261272899 CA369308097 |
54 | S>A | No |
ClinGen TOPMed |
|
| TCGA novel | 54 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 56 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766504835 CA4492042 |
57 | A>V | No |
ClinGen ExAC |
|
|
CA166950605 rs753970110 |
58 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369308169 rs1427989348 |
58 | S>F | No |
ClinGen gnomAD |
|
|
rs753970110 CA4492043 |
58 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1356415407 CA369308177 |
59 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 59 | S>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4492044 rs755208487 COSM421593 |
60 | Y>* | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1312505926 CA369308194 |
60 | Y>C | No |
ClinGen gnomAD |
|
|
rs765397953 CA4492045 |
61 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4492047 rs568121273 |
63 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA166950630 rs568121273 |
63 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369308247 rs1215123805 |
64 | Q>L | No |
ClinGen gnomAD |
|
|
CA4492048 rs781099829 |
66 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369308291 rs1280588588 |
67 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA4492050 rs756051675 |
67 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs750302898 CA4492049 |
67 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779500830 CA4492051 |
68 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs889389946 CA166950682 |
69 | Y>H | No |
ClinGen gnomAD |
|
|
CA4492052 rs748822303 |
69 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs1585399709 CA369308324 |
71 | E>Q | No |
ClinGen Ensembl |
|
|
rs778403600 CA4492054 |
72 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs768206338 CA4492053 |
72 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs145279648 CA4492055 |
74 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4492058 CA4492057 rs773635948 |
75 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs993242881 CA166950730 |
75 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA369308383 rs1317134946 |
76 | G>E | No |
ClinGen Ensembl |
|
|
CA166950747 rs200246412 |
77 | D>G | No |
ClinGen 1000Genomes TOPMed |
|
|
CA4492059 rs554353844 |
77 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs554353844 CA4492060 |
77 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4492062 rs765398188 |
79 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1563129569 CA369308436 |
80 | Q>E | No |
ClinGen Ensembl |
|
|
rs563421721 CA166950767 |
81 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA369308457 rs1422009630 |
81 | G>R | No |
ClinGen TOPMed |
|
|
CA4492063 rs563421721 |
81 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1363025306 CA369308495 |
83 | G>R | No |
ClinGen gnomAD |
|
|
CA4492065 rs767152343 |
84 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1198401966 CA369308584 |
86 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4492066 rs750251558 |
86 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs148303643 CA4492068 |
87 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4492070 rs754444782 |
88 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA4492069 rs753816888 COSM744468 |
88 | E>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA4492071 rs778547366 |
89 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747694029 CA4492072 |
92 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA166950849 rs1023196152 |
92 | E>K | No |
ClinGen TOPMed |
|
|
rs1380353849 CA369308737 |
94 | E>Q | No |
ClinGen TOPMed |
|
|
rs777957450 CA4492074 |
96 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA166950908 rs981341522 |
97 | N>S | No |
ClinGen TOPMed |
|
|
rs141073073 CA4492076 |
98 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747397023 CA4492075 |
98 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA4492077 rs777246655 |
99 | E>K | No |
ClinGen ExAC |
|
|
rs759348907 CA369311162 |
100 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759348907 CA4492107 |
100 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369311195 rs1214739251 |
101 | E>G | No |
ClinGen TOPMed |
|
|
CA4492110 rs752624136 |
103 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA4492109 rs553984199 |
103 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 104 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4492112 rs763763005 |
105 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1266445530 CA369311317 |
108 | E>A | No |
ClinGen TOPMed |
|
|
TCGA novel rs1225722427 CA369311346 |
109 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed NCI-TCGA |
|
CA369311356 rs1428645011 |
110 | A>P | No |
ClinGen gnomAD |
|
| TCGA novel | 110 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369311361 rs1305785806 |
111 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 113 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369311413 rs1435453282 |
114 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs573889935 CA4492115 |
116 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA166959029 rs569934432 |
117 | H>D | No |
ClinGen Ensembl |
|
| TCGA novel | 118 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1448171 rs200351099 CA4492117 |
120 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs146200902 CA4492118 |
120 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146200902 CA369311479 |
120 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1373928655 CA369311491 |
121 | S>L | No |
ClinGen gnomAD |
|
|
CA369311496 rs185796441 |
122 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs185796441 CA4492119 |
122 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 123 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369311527 rs1486799143 |
127 | Q>L | No |
ClinGen gnomAD |
|
|
rs749830672 CA4492120 |
128 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1441306869 CA369311540 |
129 | Y>C | No |
ClinGen gnomAD |
|
|
CA369311537 rs1336142228 |
129 | Y>H | No |
ClinGen gnomAD |
|
|
CA369311546 rs1255596371 |
130 | L>I | No |
ClinGen gnomAD |
|
|
rs1277733413 CA369311554 |
131 | N>S | No |
ClinGen gnomAD |
|
|
CA369311567 rs1372475648 |
133 | T>S | No |
ClinGen gnomAD |
|
|
CA369311575 rs1421917432 |
134 | L>F | No |
ClinGen gnomAD |
|
|
rs935118675 CA166961242 |
137 | C>S | No |
ClinGen Ensembl |
|
|
rs1259755241 CA369311609 |
138 | N>D | No |
ClinGen TOPMed |
|
| TCGA novel | 140 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369311623 rs1186381364 |
140 | I>V | No |
ClinGen gnomAD |
|
|
rs138666597 CA4492136 |
142 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA166961271 rs893498912 |
143 | S>G | No |
ClinGen Ensembl |
|
|
rs1174929652 CA369311663 |
146 | C>R | No |
ClinGen gnomAD |
|
|
rs1454889027 CA369311680 |
148 | Y>C | No |
ClinGen gnomAD |
|
|
rs1389989356 CA369311687 |
149 | V>D | No |
ClinGen TOPMed gnomAD |
|
|
rs556166156 CA4492139 |
150 | H>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs778920408 CA4492140 |
154 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 156 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4492142 rs187536463 |
158 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs572216033 CA4492145 |
160 | K>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1268878902 CA369311778 |
162 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1396646999 CA369312180 |
163 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA4492146 rs769617515 |
163 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4492169 rs749068774 |
164 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs768610918 CA4492170 |
166 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs774424163 CA4492171 |
167 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs542988286 CA166964697 |
167 | V>L | No |
ClinGen Ensembl |
|
|
CA4492173 rs771550078 |
170 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA369312223 rs761897782 |
170 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA4492172 rs761897782 |
170 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA369312230 rs1164473592 |
171 | P>A | No |
ClinGen gnomAD |
|
|
rs1302126785 CA369312243 |
173 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA369312261 rs1348501031 |
175 | E>D | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 175 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4492174 rs772597521 |
176 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs761379341 CA4492175 |
177 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1408042827 CA369312279 |
178 | A>V | No |
ClinGen gnomAD |
|
|
CA369312285 rs1368172607 |
179 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs765973326 CA4492176 |
180 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA4492177 rs776318695 |
182 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs558716746 CA166964723 |
182 | N>T | No |
ClinGen Ensembl |
|
|
rs368108040 CA166964753 |
185 | T>A | No |
ClinGen ESP gnomAD |
|
|
rs759866550 CA4492178 |
185 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753191513 CA4492180 |
189 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs371889387 CA4492182 |
192 | P>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA369312374 rs371889387 |
192 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs758920526 CA4492181 |
192 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA4492184 rs757407122 |
193 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA369312380 rs1161229705 |
193 | K>R | No |
ClinGen TOPMed |
|
|
CA369312387 rs1426196806 |
194 | N>T | No |
ClinGen TOPMed |
|
|
CA369312402 rs1181800378 |
196 | K>R | No |
ClinGen gnomAD |
|
|
rs202181409 CA4492194 |
198 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1287602886 CA369313402 |
199 | D>N | No |
ClinGen TOPMed |
|
|
CA4492197 rs765528880 |
203 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1430412190 CA369313517 |
203 | N>K | No |
ClinGen gnomAD |
|
|
CA369313506 rs1251146831 |
203 | N>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 204 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369313548 rs1355133361 |
205 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 206 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369313619 rs1189560674 |
209 | C>Y | No |
ClinGen gnomAD |
|
|
CA166969625 rs1000509653 |
210 | D>H | No |
ClinGen TOPMed |
|
|
rs552957381 CA4492198 |
213 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA369313700 rs1333003493 |
213 | A>T | No |
ClinGen TOPMed |
|
|
CA166969639 rs552957381 |
213 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4492201 rs541808987 |
214 | Y>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA369313774 rs1160596337 |
217 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 218 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1319560678 CA369313809 |
219 | K>I | No |
ClinGen gnomAD |
|
|
rs750612215 CA4492204 |
219 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs756405898 CA4492205 |
223 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs778807440 CA4492206 |
224 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4492226 rs147547676 |
225 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA166941190 rs916780471 |
227 | I>T | No |
ClinGen TOPMed |
|
|
rs994266528 CA166941195 |
229 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1349219195 CA369303481 |
230 | I>V | No |
ClinGen gnomAD |
|
|
CA4492227 rs777683840 |
231 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs777683840 CA369303498 |
231 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1170216666 CA369303516 |
232 | G>E | No |
ClinGen TOPMed |
|
|
CA166941201 rs267601299 |
232 | G>R | No |
ClinGen Ensembl |
|
| TCGA novel | 232 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs535320766 CA4492228 |
233 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4492229 rs757225180 |
234 | E>Q | No |
ClinGen ExAC |
|
|
CA4492230 rs780642267 |
235 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA166941209 rs948446388 |
236 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs948446388 CA369303560 |
236 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs745405729 CA4492231 |
237 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA369303587 rs1472958539 |
238 | N>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 241 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369303650 rs1459402999 |
242 | L>R | No |
ClinGen gnomAD |
|
|
CA369303661 rs1163583151 |
243 | S>N | No |
ClinGen gnomAD |
|
|
CA369303680 rs1389754605 |
245 | A>T | No |
ClinGen gnomAD |
|
|
rs1309470672 CA369303696 |
246 | N>D | No |
ClinGen gnomAD |
|
|
CA369303748 rs983926538 |
250 | T>A | No |
ClinGen gnomAD |
|
|
COSM1085728 CA4492233 rs779675347 |
250 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA166941211 rs983926538 |
250 | T>S | No |
ClinGen gnomAD |
|
|
CA4492235 rs768843385 |
251 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 252 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs35615395 CA4492236 |
252 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs540938419 CA4492239 |
256 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 258 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773900870 CA4492240 |
259 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA369303885 rs1308837467 |
260 | I>T | No |
ClinGen TOPMed |
|
|
CA4492241 rs201185823 |
260 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs766637286 CA4492242 |
261 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 262 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 264 | C>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376836696 CA4492259 |
266 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771080478 CA4492260 |
267 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA369305318 rs1164073376 |
267 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 272 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4492262 rs567781108 |
272 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs759039503 CA166945775 |
273 | I>V | No |
ClinGen Ensembl |
|
|
rs374454073 CA4492263 |
274 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA369305370 rs374454073 |
274 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4492264 rs775624133 |
275 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA4492265 rs151096154 |
275 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs867814911 CA166945797 |
281 | A>T | No |
ClinGen Ensembl |
|
| TCGA novel | 282 | L>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs965197386 CA166945805 |
283 | Q>K | No |
ClinGen gnomAD |
|
|
rs756047792 CA4492268 |
283 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA4492269 rs765763254 |
284 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1480199392 CA369305434 |
285 | L>M | No |
ClinGen TOPMed |
|
|
CA369305439 rs1262621101 |
286 | D>N | No |
ClinGen gnomAD |
|
|
rs1321247766 CA369305450 |
287 | L>P | No |
ClinGen gnomAD |
|
|
CA369305456 rs1248624732 |
288 | S>F | No |
ClinGen gnomAD |
|
|
CA4492270 rs753407809 |
289 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs754491485 CA166945844 |
290 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754491485 CA4492271 |
290 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs891757489 CA166945847 |
291 | Q>P | No |
ClinGen TOPMed |
|
|
CA369305483 rs1200421246 |
292 | I>K | No |
ClinGen TOPMed |
|
|
CA166945849 rs757726832 |
292 | I>M | No |
ClinGen gnomAD |
|
|
CA369305487 rs1433437014 |
293 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA369305490 rs1197505720 |
293 | S>R | No |
ClinGen gnomAD |
|
|
rs1478833583 CA369305502 |
295 | L>F | No |
ClinGen Ensembl |
|
|
CA166945856 rs79217401 |
297 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 297 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs79217401 CA4492272 |
297 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA166945887 rs1026379615 |
299 | E>G | No |
ClinGen Ensembl |
|
|
rs1480095156 CA369305525 |
299 | E>K | No |
ClinGen TOPMed |
|
|
rs17167553 VAR_040063 CA4492274 |
302 | D>Y | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA369305578 rs367931004 |
306 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4492278 rs367931004 |
306 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747455238 CA4492276 |
306 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747455238 CA4492277 |
306 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4492279 rs745938144 |
307 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1282655925 CA369305589 |
308 | N>T | No |
ClinGen gnomAD |
|
|
rs769805206 CA4492280 |
312 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1316322941 CA369305630 |
312 | N>T | No |
ClinGen gnomAD |
|
|
CA369305655 rs1396922835 |
313 | K>N | No |
ClinGen TOPMed |
|
| TCGA novel | 313 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368914778 CA4492300 |
318 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200779555 CA4492302 |
320 | I>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200779555 CA4492301 |
320 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369307756 rs1480558440 |
320 | I>V | No |
ClinGen gnomAD |
|
|
CA4492304 rs760426888 |
323 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs376634924 CA166953333 |
325 | N>I | No |
ClinGen ESP TOPMed |
|
|
rs1182455351 CA369307955 |
327 | P>L | No |
ClinGen gnomAD |
|
|
rs369025594 CA4492306 COSM452377 |
330 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4492307 rs759410232 |
330 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1165228585 CA369308096 |
335 | L>P | No |
ClinGen TOPMed |
|
|
CA4492310 rs762647539 |
336 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs763818696 CA4492311 |
337 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1379857642 CA369308160 |
339 | I>V | No |
ClinGen gnomAD |
|
|
rs751297410 CA4492312 |
340 | Q>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 343 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs942553245 CA166955241 |
346 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
rs754404912 CA4492336 COSM1548149 |
349 | V>I | lung Variant assessed as Somatic; 4.661e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs541541054 CA4492337 |
352 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA369309609 rs1281273645 |
354 | L>P | No |
ClinGen gnomAD |
|
|
rs912239674 CA166955270 |
355 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs145680854 CA4492338 |
355 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1174176771 CA369309680 |
357 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA4492340 rs758582547 |
359 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1317401007 CA369309736 |
359 | L>S | No |
ClinGen gnomAD |
|
|
rs1262491911 CA369309772 |
360 | D>E | No |
ClinGen TOPMed |
|
|
rs1209151287 CA369309769 |
360 | D>V | No |
ClinGen gnomAD |
|
| TCGA novel | 360 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4492342 rs201833482 |
363 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4492343 rs745628983 |
364 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4492344 rs769753232 |
365 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1269534634 CA369309948 |
366 | V>M | No |
ClinGen Ensembl |
|
| TCGA novel | 367 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369310004 rs1239065698 |
368 | E>* | No |
ClinGen TOPMed |
|
| TCGA novel | 368 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775565024 CA369310033 |
369 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs779998603 CA4492364 |
370 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA369310689 rs1462837330 |
373 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1328733361 CA369310736 |
375 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs774395021 CA4492367 |
377 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1585500451 CA369310779 |
377 | D>N | No |
ClinGen Ensembl |
|
|
rs774395021 CA369310794 |
377 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369310849 rs542059624 |
380 | P>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4492369 rs542059624 |
380 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs370812594 CA4492368 |
380 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1244078078 CA369310891 |
382 | V>A | No |
ClinGen gnomAD |
|
|
rs772723991 CA4492370 |
383 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs760330770 CA4492371 |
384 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs985991647 CA166956424 |
384 | A>V | No |
ClinGen TOPMed |
|
|
rs933779660 CA166956431 |
386 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA166956446 rs910580885 |
387 | D>G | No |
ClinGen TOPMed |
|
|
CA4492372 rs766666624 |
387 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA4492374 rs759991469 |
388 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754750169 CA4492373 |
388 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369311113 rs765644406 |
391 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA369311107 rs1170087740 |
391 | H>R | No |
ClinGen gnomAD |
|
|
rs1165670397 CA369311161 |
393 | V>D | No |
ClinGen gnomAD |
|
|
rs764293697 CA4492378 |
394 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA4492381 rs200858255 |
395 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4492382 rs753662902 |
396 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1585500738 CA369311310 |
397 | M>R | No |
ClinGen Ensembl |
|
|
rs61749957 CA4492383 |
399 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs748170148 CA4492385 |
400 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1325515553 CA369311411 |
401 | R>S | No |
ClinGen gnomAD |
|
|
rs777345337 CA4492387 |
404 | D>N | No |
ClinGen ExAC |
|
|
rs1346174066 CA369312423 |
406 | T>I | No |
ClinGen gnomAD |
|
|
CA369312420 rs1421274423 |
406 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1346174066 CA369312425 |
406 | T>S | No |
ClinGen gnomAD |
|
|
CA4492408 rs745579112 |
407 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369312427 rs745579112 |
407 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769997856 CA4492409 |
410 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA369312454 rs1367742155 |
411 | D>G | No |
ClinGen gnomAD |
|
|
CA369312449 rs1221236461 |
411 | D>N | No |
ClinGen TOPMed |
|
|
CA369312462 rs1405579129 |
412 | A>V | No |
ClinGen gnomAD |
|
|
rs763318943 CA4492411 |
413 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369312477 rs1225403914 |
414 | Y>H | No |
ClinGen gnomAD |
|
|
rs1307684986 CA369312491 |
415 | P>A | No |
ClinGen gnomAD |
|
|
CA369312498 rs1316117671 |
415 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1176159870 CA369312510 |
416 | M>I | No |
ClinGen TOPMed |
|
|
CA4492414 rs368555761 |
416 | M>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368555761 CA4492413 |
416 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs140329735 CA4492412 |
416 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA166961014 rs370734172 |
417 | L>M | No |
ClinGen ESP gnomAD |
|
|
rs767760557 CA4492415 |
417 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs773506346 CA4492416 |
418 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA166961040 rs143535273 |
418 | I>T | No |
ClinGen ESP TOPMed |
|
|
rs1176937687 CA369312545 |
419 | L>R | No |
ClinGen TOPMed |
|
| TCGA novel | 422 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760953701 CA4492417 |
425 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs538563634 CA4492418 |
428 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4492419 rs375333042 |
428 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1157403119 CA369312670 |
429 | E>D | No |
ClinGen gnomAD |
|
|
rs758180099 CA4492420 |
432 | H>R | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
CA4492421 rs76794740 |
433 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs76794740 CA369312736 |
433 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4492422 rs751565610 COSM282484 |
433 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 434 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4492423 rs756747892 |
436 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs780695678 CA4492425 |
438 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 438 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1444534837 CA369312880 |
439 | S>R | No |
ClinGen gnomAD |
|
|
rs141659989 CA4492426 |
441 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs200838592 CA4492427 |
442 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1197284104 CA369314701 |
446 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA369314745 rs1462021246 |
448 | H>R | No |
ClinGen gnomAD |
|
|
CA4492449 rs760339547 |
450 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 451 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1476533401 CA369314807 |
452 | P>Q | No |
ClinGen gnomAD |
|
|
rs1409402796 CA369314815 |
453 | P>T | No |
ClinGen Ensembl |
|
|
rs1563172650 CA369314859 |
455 | F>S | No |
ClinGen Ensembl |
|
|
rs773908835 CA4492451 |
458 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA369314912 rs1178499253 |
459 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA4492453 rs770987656 |
460 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs202012650 CA369314946 |
460 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202012650 CA4492454 COSM1699385 |
460 | R>Q | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 461 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4492455 rs759692358 |
461 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1024724399 CA166967382 |
464 | H>D | No |
ClinGen TOPMed |
|
|
CA369315030 rs1237783943 |
466 | I>L | No |
ClinGen TOPMed |
|
|
rs774165432 CA4492457 |
468 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs761643149 CA4492458 |
469 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs767410506 CA4492459 |
472 | D>G | No |
ClinGen ExAC TOPMed |
|
|
CA369315124 rs1563172734 |
473 | E>A | No |
ClinGen Ensembl |
|
|
CA369315136 rs760218864 CA4492461 |
474 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1324911447 CA369315133 |
474 | M>T | No |
ClinGen gnomAD |
|
|
CA4492486 rs376779533 |
478 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA369315965 rs1221313581 |
478 | G>R | No |
ClinGen TOPMed |
|
|
rs1470376232 CA369315974 |
479 | K>N | No |
ClinGen gnomAD |
|
|
CA4492487 rs752038335 |
480 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 480 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4492488 rs138654933 |
483 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4492489 rs142718954 |
484 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1163605284 CA369316008 |
485 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs745914653 CA4492490 |
485 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs769926550 CA4492491 |
485 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4492492 rs201225836 |
486 | Y>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4492495 rs749370596 |
488 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA4492494 rs749370596 |
488 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA369316052 rs1351704739 |
491 | Y>C | No |
ClinGen gnomAD |
|
|
rs1308992109 CA369316048 |
491 | Y>N | No |
ClinGen gnomAD |
|
|
rs746912823 CA4492496 |
492 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA369316072 rs1292864892 |
494 | N>S | No |
ClinGen gnomAD |
|
|
CA4492500 rs747748220 |
497 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762700582 CA4492502 |
498 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs764479779 CA4492503 |
500 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA369316132 rs1585536338 |
501 | I>M | No |
ClinGen Ensembl |
|
|
CA4492505 rs367635019 |
502 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4492504 COSM1448177 rs367635019 |
502 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1455916065 CA369316178 |
504 | D>N | No |
ClinGen gnomAD |
|
|
CA4492507 rs373040782 |
505 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1212771991 CA369316236 |
506 | L>F | No |
ClinGen TOPMed |
|
|
CA4492508 rs756129090 |
509 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA369316317 rs1411024568 |
510 | I>V | No |
ClinGen gnomAD |
|
|
rs142342602 CA4492509 |
511 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749468681 CA4492510 |
512 | M>V | No |
ClinGen ExAC |
|
|
CA166973611 rs201627259 |
516 | G>D | No |
ClinGen Ensembl |
|
|
rs1337836193 CA369316642 |
516 | G>S | No |
ClinGen gnomAD |
|
|
CA369316650 rs1205873391 |
517 | V>A | No |
ClinGen TOPMed |
|
|
rs767937347 CA369316647 |
517 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA4492526 rs767937347 |
517 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA369316654 rs151285219 |
518 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4492527 rs151285219 |
518 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1212855617 CA369316661 |
519 | S>N | No |
ClinGen TOPMed |
|
|
rs952331952 CA166973639 |
520 | L>F | No |
ClinGen Ensembl |
|
|
rs1298073969 CA369316693 |
523 | S>F | No |
ClinGen gnomAD |
|
|
rs756640519 CA4492528 |
524 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs537298707 CA4492529 |
525 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs376390384 CA166973660 |
526 | E>G | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 526 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369316716 rs1325619730 |
527 | P>A | No |
ClinGen gnomAD |
|
|
rs1223822560 CA369316719 |
527 | P>R | No |
ClinGen gnomAD |
|
|
rs139500250 CA4492531 |
528 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4492532 rs61753513 |
528 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA166973684 rs61753513 |
528 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs61749958 CA4492534 |
530 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA369316747 rs1563177957 |
532 | V>A | No |
ClinGen Ensembl |
|
|
rs781143667 CA4492535 |
532 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA4492536 rs140376316 |
533 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA369316765 COSM1666237 CA166973727 rs267601300 |
535 | M>I | eye [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1481708719 CA369316797 |
539 | K>N | No |
ClinGen gnomAD |
|
|
rs142822097 CA166973750 COSM108206 |
542 | G>E | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA369316815 rs1177532814 |
542 | G>R | No |
ClinGen gnomAD |
|
|
CA4492538 rs145103144 |
545 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM744462 CA4492537 rs769875662 |
545 | R>W | lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA4492540 rs768268629 |
548 | G>* | No |
ClinGen ExAC gnomAD |
|
|
CA369316855 rs773815728 |
548 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4492541 rs773815728 |
548 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150378173 COSM258569 CA4492542 |
552 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs34890031 COSM150392 CA4492543 |
552 | R>H | stomach breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs773585494 CA4492545 |
556 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4492544 rs773585494 |
556 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4492547 rs766838482 |
559 | V>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 559 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4492549 rs759522898 |
560 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA4492548 rs139535134 |
560 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1273645900 CA369316941 |
562 | V>M | No |
ClinGen TOPMed |
|
| TCGA novel | 563 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369316947 rs1211173950 |
563 | D>N | No |
ClinGen gnomAD |
|
|
CA4492550 rs765373734 |
564 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4492553 rs369766136 |
567 | K>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758682376 CA4492552 |
567 | K>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4492554 rs750223919 |
568 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA166973809 rs373471331 |
570 | Q>E | No |
ClinGen ESP TOPMed |
|
|
COSM124162 CA4492555 rs188028215 |
573 | P>L | upper_aerodigestive_tract Variant assessed as Somatic; 0.0003237 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 574 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369317035 rs749259740 |
575 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1048424557 CA166973838 |
575 | Y>F | No |
ClinGen TOPMed |
|
|
CA369317045 rs1419342155 |
577 | D>H | No |
ClinGen gnomAD |
|
|
rs200683495 CA166973844 |
578 | E>K | No |
ClinGen 1000Genomes |
|
|
rs200411120 CA4492559 |
581 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200411120 CA4492558 |
581 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs993419579 CA166973879 |
582 | A>T | No |
ClinGen gnomAD |
|
|
CA369317386 rs1444356468 |
583 | D>V | No |
ClinGen gnomAD |
|
|
CA369317397 rs1227210657 |
584 | D>E | No |
ClinGen gnomAD |
|
|
CA4492573 rs35605917 |
584 | D>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1316692521 CA369317393 |
584 | D>Y | No |
ClinGen gnomAD |
|
|
rs376531016 CA4492574 |
585 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA369317408 rs1175329845 |
586 | D>E | No |
ClinGen TOPMed |
|
|
rs1345735728 CA369317402 |
586 | D>N | No |
ClinGen TOPMed |
|
|
rs1320386063 CA369317410 |
587 | V>I | No |
ClinGen gnomAD |
|
|
rs1457577831 CA369317427 |
589 | Y>* | No |
ClinGen gnomAD |
|
|
CA369317423 rs754961619 |
589 | Y>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754961619 CA4492576 |
589 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4492578 rs778765350 |
591 | K>N | No |
ClinGen ExAC gnomAD |
|
| rs780807946 | 591 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4492579 rs747662889 |
592 | L>R | No |
ClinGen ExAC |
|
|
CA4492580 rs757968522 |
594 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA369317472 rs1411704407 |
596 | I>V | No |
ClinGen gnomAD |
|
|
CA4492581 rs138755517 |
597 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4492583 rs771220145 |
598 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA369317514 rs1585546129 |
599 | Y>S | No |
ClinGen Ensembl |
|
|
rs376456965 CA4492584 |
600 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1310942302 CA369317530 |
600 | L>R | No |
ClinGen TOPMed |
|
|
rs1281182450 CA369317536 |
601 | G>* | No |
ClinGen TOPMed |
|
|
CA369317564 rs1300782003 |
603 | T>A | No |
ClinGen gnomAD |
|
|
rs1317870586 CA369317601 |
605 | E>D | No |
ClinGen gnomAD |
|
|
rs775904177 CA4492589 |
605 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs763123696 CA4492590 |
606 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA166975160 rs911509465 |
608 | K>E | No |
ClinGen gnomAD |
|
|
rs146922831 CA4492592 |
608 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1178621796 CA369303462 |
617 | K>E | No |
ClinGen TOPMed |
|
|
CA166941677 rs1029194229 |
618 | T>K | No |
ClinGen TOPMed |
|
|
CA369303539 rs1170623098 |
623 | P>S | No |
ClinGen gnomAD |
|
|
CA4492619 rs762028900 |
625 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA166941721 rs953665896 |
627 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA4492621 rs34501262 |
630 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1426052518 CA369303630 |
630 | Y>N | No |
ClinGen gnomAD |
|
|
CA4492622 rs759360825 |
631 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs764953610 CA4492623 COSM1085737 |
633 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA4492625 rs75692051 |
635 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA369303718 rs1237921231 |
636 | G>D | No |
ClinGen TOPMed |
|
|
CA4492626 rs150705013 |
638 | F>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4492629 rs780895561 |
642 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 643 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4492631 rs756431045 |
646 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs780310398 CA4492632 |
647 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs749759772 CA4492633 |
648 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA4492634 rs769259093 |
649 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1169488289 CA369303916 |
650 | F>L | No |
ClinGen gnomAD |
|
|
rs146326238 CA4492635 |
651 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1425955290 CA369303925 |
651 | W>* | No |
ClinGen gnomAD |
|
|
CA4492636 rs568618665 |
652 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs568618665 CA369303937 |
652 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 653 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1405308138 CA369303955 |
653 | K>T | No |
ClinGen gnomAD |
|
|
CA369303962 rs772099734 |
654 | L>I | No |
ClinGen ExAC TOPMed |
|
|
CA4492638 rs772099734 |
654 | L>V | No |
ClinGen ExAC TOPMed |
|
|
CA4492640 rs760813694 |
656 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA166941878 rs774972094 |
656 | A>P | No |
ClinGen gnomAD |
|
|
CA369303974 rs774972094 |
656 | A>T | No |
ClinGen gnomAD |
|
|
rs1159708342 CA369303978 |
657 | K>E | No |
ClinGen TOPMed |
|
|
rs775287585 CA4492642 |
658 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA166941904 rs984275580 |
658 | K>T | No |
ClinGen TOPMed gnomAD |
|
| rs1382711421 | 659 | T>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4492643 rs762785276 |
659 | T>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 660 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4492644 rs763991708 |
661 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_040064 rs35149449 CA4492645 |
661 | A>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA4492678 rs747030323 |
662 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4492679 rs757399416 |
663 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4492681 rs781383893 |
664 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4492680 rs781383893 |
664 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768376014 CA4492682 |
665 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA369309393 rs1374328047 |
667 | H>Y | No |
ClinGen TOPMed |
|
|
CA4492684 rs748022564 |
671 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs146534913 CA4492685 |
672 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4492686 rs773262870 |
673 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs200874637 CA4492687 |
673 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146196005 CA4492689 COSM3765320 |
674 | R>Q | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA4492688 rs140024524 |
674 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4492691 rs151020313 |
675 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA369309640 rs1168416438 |
677 | L>P | No |
ClinGen gnomAD |
|
|
CA369309661 rs34904752 |
678 | M>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs34904752 CA4492692 |
678 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA369309677 rs1457963457 |
679 | G>R | No |
ClinGen gnomAD |
|
|
rs113865710 CA166956098 |
680 | R>G | No |
ClinGen Ensembl |
|
|
CA166956106 rs944197557 |
680 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs752393073 CA166956109 |
680 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1200063578 CA369309727 |
681 | I>K | No |
ClinGen gnomAD |
|
|
CA369309730 rs1200063578 |
681 | I>T | No |
ClinGen gnomAD |
|
|
CA4492693 rs140175129 |
682 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4492694 rs1045231026 |
682 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA369309755 rs904822938 |
683 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA166956136 rs904822938 |
683 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs904822938 CA369309761 |
683 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1481080550 CA369309802 |
684 | D>G | No |
ClinGen TOPMed |
|
|
rs1296249648 CA369309856 |
686 | T>P | No |
ClinGen gnomAD |
|
|
rs1387067170 CA369309887 |
687 | L>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 688 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1300343865 CA369309913 |
688 | L>V | No |
ClinGen gnomAD |
|
|
CA369309935 rs1490848051 |
689 | F>S | No |
ClinGen TOPMed |
|
|
CA4492698 rs757273577 |
690 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA4492699 rs781256237 |
691 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA4492700 rs538065484 |
691 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1400443132 CA369310130 |
692 | G>C | No |
ClinGen TOPMed |
|
|
CA4492724 rs567783308 |
697 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4492723 rs768058992 |
697 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA369310192 rs1416045716 |
699 | T>I | No |
ClinGen gnomAD |
|
|
rs780123094 CA4492728 |
700 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs754102857 CA4492729 |
700 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4492730 rs758061584 |
701 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4492731 rs758061584 |
701 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746893804 CA4492732 |
702 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs150000332 CA166957065 |
702 | L>Q | No |
ClinGen 1000Genomes TOPMed |
|
|
rs781321454 CA4492734 |
703 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4492733 rs770972105 |
703 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4492735 rs556189417 |
704 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA369310262 rs1314872892 |
705 | Y>C | No |
ClinGen TOPMed |
|
|
rs774951160 CA4492737 |
706 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA369310312 rs1563199704 |
707 | T>S | No |
ClinGen Ensembl |
|
|
CA369310345 rs1312577313 |
709 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1333383444 CA369310355 |
709 | E>G | No |
ClinGen gnomAD |
|
|
CA369310342 rs1312577313 |
709 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
COSM1213694 rs762675362 CA4492738 |
710 | E>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA4492739 rs762675362 |
710 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA166957129 rs780744686 |
712 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA4492741 rs762203388 |
713 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA4492742 rs768003773 |
714 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1181385099 CA369310501 |
717 | L>F | No |
ClinGen gnomAD |
|
|
rs750982217 CA4492743 |
719 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 720 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760688633 CA4492744 |
720 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA369310556 rs1585600498 |
720 | D>N | No |
ClinGen Ensembl |
|
|
rs766483859 CA4492745 |
721 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA4492746 rs753965524 |
722 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 724 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4492747 rs754325149 |
727 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 728 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs574854298 CA166957165 |
729 | Y>H | No |
ClinGen Ensembl |
|
| TCGA novel | 730 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4492749 rs751370783 |
732 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4492750 rs751370783 |
732 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759575901 CA4492765 |
736 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1359547942 CA369312507 |
736 | D>Y | No |
ClinGen gnomAD |
|
|
CA369312535 rs1300422635 |
738 | L>S | No |
ClinGen TOPMed |
|
|
rs35862526 CA4492766 |
740 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4492767 rs201707398 |
741 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1563202546 CA369312585 |
742 | K>* | No |
ClinGen Ensembl |
|
|
rs61753515 CA4492769 |
743 | C>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1453193120 CA369312611 |
743 | C>W | No |
ClinGen TOPMed |
|
|
CA166963622 rs986427531 |
744 | S>P | No |
ClinGen TOPMed |
|
|
rs756103676 CA369312659 |
747 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756103676 CA4492771 |
747 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750348362 COSM1085741 CA4492770 |
747 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4492772 rs779907845 |
748 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA4492773 COSM1085743 rs748823799 |
748 | F>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4492774 rs754501901 |
749 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM599203 rs544247071 CA4492775 |
750 | P>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA166963643 rs781235277 |
751 | W>* | No |
ClinGen Ensembl |
|
|
CA4492777 rs772384619 COSM1085745 |
754 | E>* | large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
|
CA166963650 rs1011124303 |
755 | L>F | No |
ClinGen gnomAD |
|
|
rs529720637 CA4492778 |
756 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 759 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4492781 rs201827196 |
760 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4492780 rs771439677 |
760 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1350826429 CA369313006 |
761 | E>* | No |
ClinGen gnomAD |
|
|
CA4492784 rs765422772 |
761 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA4492783 rs765422772 |
761 | E>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 762 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767376380 CA4492786 |
764 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1255181234 CA369313176 |
766 | S>L | No |
ClinGen TOPMed |
|
|
CA4492787 rs543135931 |
766 | S>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1213311846 CA369313183 |
767 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 769 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 770 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA369313274 rs1229959881 |
772 | A>G | No |
ClinGen gnomAD |
|
| TCGA novel | 772 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766322394 CA4492789 |
775 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs766322394 CA369313335 |
775 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1585608942 CA369313339 |
775 | S>R | No |
ClinGen Ensembl |
|
|
CA4492790 rs753729712 |
776 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA4492791 rs754440134 |
777 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA369313372 rs149043647 |
778 | E>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1085747 CA4492794 rs149043647 |
778 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs777441587 CA4492795 |
779 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs113393042 CA4492798 |
781 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs962001273 CA166963774 |
781 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA4492796 rs113393042 |
781 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749362105 CA4492822 |
783 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA4492799 rs746367925 |
783 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4492823 rs749362105 |
783 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs761969195 CA4492825 |
785 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 785 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369166373 CA4492824 |
785 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4492827 rs776266266 |
786 | I>R | No |
ClinGen ExAC gnomAD |
|
|
rs770709997 CA4492826 |
786 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759366133 CA369315219 |
791 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 792 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs191607900 CA166967957 |
794 | E>G | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1302278674 CA369315238 |
794 | E>Q | No |
ClinGen gnomAD |
|
|
rs148384235 CA4492832 |
796 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA369315253 rs1198521768 |
796 | H>R | No |
ClinGen TOPMed |
|
|
CA369315252 rs1585614297 |
796 | H>Y | No |
ClinGen Ensembl |
|
|
CA4492833 rs763519232 |
797 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751185873 CA4492834 |
798 | H>Y | No |
ClinGen ExAC |
|
|
rs1233475508 CA369315289 |
801 | H>P | No |
ClinGen gnomAD |
|
|
rs373321439 CA166967990 |
802 | S>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4492836 rs373321439 |
802 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA369315298 rs1218173064 |
803 | V>I | No |
ClinGen gnomAD |
|
|
CA4492839 rs780646922 |
805 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA4492840 rs141587092 |
806 | I>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4492841 rs146351907 |
807 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs376622972 CA4492842 COSM1085751 |
808 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1568622 CA4492844 rs138421011 |
808 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs138421011 CA4492843 |
808 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA369315332 rs773548469 |
809 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4492845 rs773548469 |
809 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1456085726 CA369315337 |
810 | G>S | No |
ClinGen gnomAD |
|
|
COSM332485 CA4492846 rs745650603 |
810 | G>V | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1160561522 CA369315351 |
812 | N>S | No |
ClinGen gnomAD |
|
|
CA4492848 rs551138396 |
813 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4492851 rs763614692 |
816 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA369315374 rs763614692 |
816 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs915105399 CA166968092 |
820 | I>T | No |
ClinGen TOPMed |
|
|
CA4492854 rs767075170 |
821 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA4492853 rs566101773 |
821 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs370903772 CA4492855 |
823 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370903772 CA166968096 |
823 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA166968111 rs866019775 |
824 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs146105091 CA4492856 |
824 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4492857 rs766877890 |
825 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA369315424 rs139686578 |
825 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 825 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs139686578 CA4492858 |
825 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
No associated diseases with Q96M69
4 regional properties for Q96M69
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Zinc finger, CCCH-type | 86 - 116 | IPR000571-1 |
| domain | Zinc finger, CCCH-type | 122 - 158 | IPR000571-2 |
| conserved_site | tRNA-dihydrouridine synthase, conserved site | 363 - 381 | IPR018517 |
| domain | DUS-like, FMN-binding domain | 276 - 535 | IPR035587 |
Functions
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| acrosomal vesicle | A structure in the head of a spermatozoon that contains acid hydrolases, and is concerned with the breakdown of the outer membrane of the ovum during fertilization. It lies just beneath the plasma membrane and is derived from the lysosome. |
| cell projection | A prolongation or process extending from a cell, e.g. a flagellum or axon. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| manchette | A tubular array of microtubules that extends from the perinuclear ring surrounding the spermatid nucleus to the flagellar axoneme. The manchette may also contain F-actin filaments. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| guanylate kinase activity | Catalysis of the reaction: ATP + GMP = ADP + GDP. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| axoneme assembly | The assembly and organization of an axoneme, the bundle of microtubules and associated proteins that forms the core of cilia (also called flagella) in eukaryotic cells and is responsible for their movements. |
| cell differentiation | The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
| phosphorylation | The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide. |
| spermatogenesis | The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa. |
8 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P15454 | GUK1 | Guanylate kinase | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q8IYG6 | LRRC56 | Leucine-rich repeat-containing protein 56 | Homo sapiens (Human) | PR |
| Q9H069 | DRC3 | Dynein regulatory complex subunit 3 | Homo sapiens (Human) | PR |
| Q4LDG9 | DNAL1 | Dynein axonemal light chain 1 | Homo sapiens (Human) | PR |
| Q6ZRR7 | LRRC9 | Leucine-rich repeat-containing protein 9 | Homo sapiens (Human) | PR |
| Q9DAP0 | Lrrc46 | Leucine-rich repeat-containing protein 46 | Mus musculus (Mouse) | PR |
| Q9D5S7 | Lrguk | Leucine-rich repeat and guanylate kinase domain-containing protein | Mus musculus (Mouse) | PR |
| Q6DIQ3 | ppp1r7 | Protein phosphatase 1 regulatory subunit 7 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MATSERALLR | TRAASLLRGL | GRSRTGARSL | QFRAEKERQP | CWSFPMGQKT | KGSSNIASSY |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LLQQLMHRYQ | ELDSDGDEDQ | GEGEAGSEES | SESEMLNLEE | EFDGVLREEA | VAKALHHLGR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SGSGTEQVYL | NLTLSGCNLI | DVSILCGYVH | LQKLDLSANK | IEDLSCVSCM | PYLLELNASQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NNLTTFFNFK | PPKNLKKADF | SHNQISEICD | LSAYHALTKL | ILDGNEIEEI | SGLEMCNNLI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| HLSLANNKIT | TINGLNKLPI | KILCLSNNQI | EMITGLEDLK | ALQNLDLSHN | QISSLQGLEN |
| 310 | 320 | 330 | 340 | 350 | 360 |
| HDLLEVINLE | DNKIAELREI | EYIKNLPILR | VLNLLENPIQ | EKSEYWFFVI | FMLLRLTELD |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QKKIKVEEKV | SAVNKYDPPP | EVVAAQDHLT | HVVNSVMQPQ | RIFDSTLPSL | DAPYPMLILA |
| 430 | 440 | 450 | 460 | 470 | 480 |
| GPEACGKREL | AHRLCRQFST | YFRYGACHTT | RPPYFGEGDR | VDYHFISQDV | FDEMVNMGKF |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ILTFSYGNHK | YGLNRDTVEG | IARDGLASCI | HMEIEGVRSL | KYSYFEPRYI | LVVPMNKEKY |
| 550 | 560 | 570 | 580 | 590 | 600 |
| EGYLRRKGLF | SRAEIEFAVS | RVDLYIKINQ | NFPGYFDEVI | NADDLDVAYQ | KLSQLIREYL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| GLTEEPAKSL | ATTADVKTSH | LKPEAHPTKY | ISSNMGDFLH | STDRNYLIKF | WAKLSAKKTP |
| 670 | 680 | 690 | 700 | 710 | 720 |
| AERDSIHRQH | EAARQALMGR | IRPDHTLLFQ | RGPVPAPLTS | GLHYYTTLEE | LWKSFDLCED |
| 730 | 740 | 750 | 760 | 770 | 780 |
| YFKPPFGPYP | EKSGKDSLVS | MKCSLFRFCP | WSKELPFQPP | EGSISSHLGS | GASDSETEET |
| 790 | 800 | 810 | 820 | ||
| RKALPIQSFS | HEKESHQHRQ | HSVPVISRPG | SNVKPTLPPI | PQGRR |