P46087
PR
Gene name |
NOP2 (NOL1, NSUN1) |
Protein name |
Probable 28S rRNA (cytosine(4447)-C(5))-methyltransferase |
Names |
Nucleolar protein 1, Nucleolar protein 2 homolog, Proliferating-cell nucleolar antigen p120, Proliferation-associated nucleolar protein p120 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4839 |
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
690 variants for P46087
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA6411107 rs367717320 |
2 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752867077 CA6411106 |
4 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA383633264 rs752867077 |
4 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA6411103 rs371872788 |
7 | P>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6411104 rs371872788 |
7 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA232431339 rs371872788 |
7 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6411105 rs767687165 |
7 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1303396919 CA383633175 |
8 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA232431332 rs766439954 |
8 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA6411102 rs766439954 |
8 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA383633060 rs1250496977 |
12 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1250496977 CA383633062 |
12 | R>Q | No |
ClinGen TOPMed |
|
|
CA383633064 rs1347647581 |
12 | R>W | No |
ClinGen gnomAD |
|
|
rs1172411320 CA383633048 |
13 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1420168106 CA383633055 |
13 | G>R | No |
ClinGen TOPMed |
|
|
rs1416124506 CA383633035 |
14 | P>S | No |
ClinGen TOPMed |
|
|
rs763386179 CA6411101 |
16 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA383632985 rs1357569345 |
17 | K>E | No |
ClinGen gnomAD |
|
|
rs773396555 CA383632959 |
18 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA6411100 rs773396555 |
18 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs770314843 CA6411099 |
18 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1222051017 CA383632851 |
22 | K>N | No |
ClinGen gnomAD |
|
|
rs1487523450 CA383632833 |
23 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
COSM3384568 rs1487523450 CA383632829 |
23 | G>V | pancreas [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA6411094 rs777646114 |
24 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6411095 rs745310005 |
24 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs777646114 CA383632811 |
24 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383632794 rs1225671497 |
25 | E>G | No |
ClinGen gnomAD |
|
|
rs777684054 CA6411091 |
29 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA383632682 rs1364853641 |
31 | F>L | No |
ClinGen gnomAD |
|
|
CA6411088 rs767776844 |
32 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383632642 rs1592249614 |
34 | A>V | No |
ClinGen Ensembl |
|
|
CA6411063 rs750629632 |
38 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1352293033 CA383632580 |
40 | S>F | No |
ClinGen gnomAD |
|
|
rs1302260131 CA383632579 |
41 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA6411062 rs765655556 |
42 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs373940731 CA232430917 |
44 | S>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs373940731 CA383632556 |
44 | S>F | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs544971947 CA6411060 |
45 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6411059 rs761057281 |
46 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6411057 rs773963391 |
46 | R>H | Variant assessed as Somatic; 4.648e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs761057281 CA6411058 |
46 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383632545 rs1386911399 |
47 | A>T | No |
ClinGen gnomAD |
|
|
CA383632540 COSM694734 rs1289639693 |
47 | A>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA383632536 rs939204070 |
48 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA232430911 rs939204070 |
48 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs770335849 CA6411056 |
49 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs772796064 CA6411035 |
51 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6411034 rs145516676 |
52 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs746254580 CA232430871 |
53 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA383632443 rs1477054314 |
55 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA383632426 rs1451647577 |
56 | L>S | No |
ClinGen gnomAD |
|
|
CA232430868 rs774367477 |
57 | G>A | No |
ClinGen Ensembl |
|
|
rs201467180 CA383632387 |
59 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6411029 rs201467180 |
59 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771948048 CA6411027 |
61 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA6411028 rs775294714 |
61 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1217723906 CA383632341 |
62 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA383632316 rs1348969418 |
64 | T>A | No |
ClinGen TOPMed |
|
|
CA6411025 rs200542388 |
65 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372934430 CA6411026 |
65 | N>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383632255 rs1289228240 |
67 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs757526717 CA6411024 |
68 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA383632249 rs757526717 |
68 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 70 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1321732826 CA383632181 |
72 | P>L | No |
ClinGen gnomAD |
|
|
CA383632185 rs1318064496 |
72 | P>S | No |
ClinGen gnomAD |
|
|
COSM4150313 CA383632163 rs1397765361 COSM4150314 |
73 | L>F | ovary [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
VAR_030938 rs1128164 CA232430843 |
73 | L>S | No |
ClinGen UniProt TOPMed dbSNP gnomAD |
|
|
rs1555153130 CA383632147 |
74 | P>R | No |
ClinGen Ensembl |
|
|
CA383632114 rs1170623863 |
77 | L>P | No |
ClinGen gnomAD |
|
|
CA6411002 rs367607600 |
81 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383631991 rs755587866 |
83 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA6411000 rs755587866 |
83 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs752096664 CA6410999 |
83 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA6410998 rs764906130 |
88 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1565592607 CA383631916 |
88 | T>S | No |
ClinGen Ensembl |
|
|
CA6410997 rs200834748 |
90 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6410996 rs200834748 |
90 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA232430752 rs989104591 |
93 | G>V | No |
ClinGen TOPMed |
|
|
rs763685849 CA6410995 |
94 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA232430747 rs372245655 |
96 | S>C | No |
ClinGen Ensembl |
|
|
CA6410994 rs374049119 |
97 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383631803 rs1331758586 |
97 | L>P | No |
ClinGen gnomAD |
|
|
rs374049119 CA6410993 |
97 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6410991 rs759539652 |
98 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1157597945 CA383631753 |
100 | A>D | No |
ClinGen gnomAD |
|
|
rs1157597945 CA383631749 |
100 | A>V | No |
ClinGen gnomAD |
|
|
rs774279967 CA6410990 |
101 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs774279967 CA383631744 |
101 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs185467201 CA6410989 |
102 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368341240 CA232430736 |
103 | G>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1278948877 CA383631684 |
105 | K>R | No |
ClinGen TOPMed |
|
|
CA6410988 rs762968722 |
106 | R>C | Variant assessed as Somatic; 9.284e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs762968722 CA383631674 |
106 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6410987 rs773299307 |
106 | R>H | No |
ClinGen ExAC TOPMed |
|
|
rs1235570930 CA383631664 |
107 | P>S | No |
ClinGen gnomAD |
|
|
rs1218191226 CA383631648 |
108 | A>E | No |
ClinGen gnomAD |
|
|
CA383631630 rs527906046 |
109 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs527906046 CA6410986 |
109 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6410985 rs748376518 |
110 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1285580666 CA383631627 |
110 | G>S | No |
ClinGen gnomAD |
|
|
rs747309107 CA6410982 |
112 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs116841423 CA6410981 |
113 | E>K | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA6410980 rs545287704 |
114 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1375165006 CA383631530 |
116 | E>K | No |
ClinGen TOPMed |
|
|
CA383631502 rs1272349609 |
118 | E>K | No |
ClinGen gnomAD |
|
|
CA6410979 rs753329526 |
119 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs777316737 CA6410978 |
120 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs755782291 CA6410977 |
123 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA6410974 rs199738169 |
125 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767093622 CA6410975 |
125 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6410976 rs376908873 |
125 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6410973 rs531928659 |
128 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs773210210 CA6410970 |
129 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA6410971 rs762912827 |
129 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383631293 rs1262679380 |
131 | L>F | No |
ClinGen gnomAD |
|
|
rs769901001 CA6410969 |
132 | W>G | No |
ClinGen ExAC gnomAD |
|
|
rs1329241623 CA383631247 |
134 | S>C | No |
ClinGen TOPMed |
|
|
rs748141880 CA383631241 |
135 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs748141880 CA232430689 |
135 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA383631233 rs1325262117 |
135 | E>V | No |
ClinGen TOPMed |
|
|
rs768940263 CA6410966 |
136 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3688405 CA6410964 rs75316694 |
137 | D>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs1592247189 CA383631182 |
139 | D>N | No |
ClinGen Ensembl |
|
|
rs35556146 CA6410963 RCV000949352 |
140 | T>M | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1198611770 CA383631155 |
141 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA383631127 rs777217668 |
142 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA232430676 rs1023471138 |
144 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs755657091 CA6410960 |
147 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA232430673 rs895120975 |
149 | N>T | No |
ClinGen Ensembl |
|
|
rs1347985786 CA383630325 |
152 | D>A | No |
ClinGen gnomAD |
|
|
CA383630328 rs1223679132 |
152 | D>N | No |
ClinGen gnomAD |
|
|
rs1033701152 CA232430667 |
153 | E>G | No |
ClinGen Ensembl |
|
|
CA383630303 rs1457869532 |
155 | E>K | No |
ClinGen TOPMed |
|
|
CA383630297 rs1465913506 |
156 | G>S | No |
ClinGen gnomAD |
|
|
rs61740944 CA232430656 |
158 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs61740944 RCV000879819 CA6410957 |
158 | A>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6410956 rs751400069 |
158 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs553965811 CA232429649 |
160 | L>M | No |
ClinGen Ensembl |
|
|
CA6410929 rs764256063 |
160 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6410928 rs761043612 |
161 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs574996041 CA6410927 |
162 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1467476112 CA383629679 |
163 | E>G | No |
ClinGen gnomAD |
|
|
rs555886597 CA383629656 |
167 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs186548534 CA6410925 |
167 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6410926 rs555886597 |
167 | R>W | Variant assessed as Somatic; 4.652e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs201707356 CA6410924 |
169 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383629641 rs1477329092 |
169 | Q>R | No |
ClinGen gnomAD |
|
|
CA6410922 rs749777436 |
171 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749777436 CA383629628 |
171 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs567125222 CA6410923 |
171 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs749777436 CA383629627 |
171 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383629626 rs370162325 |
172 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768153160 CA6410920 COSM86140 |
172 | R>Q | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6410921 rs370162325 |
172 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746451601 CA6410919 |
174 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1450201563 CA383629607 |
175 | A>V | No |
ClinGen TOPMed |
|
|
CA383629595 rs1218246534 |
177 | G>E | No |
ClinGen gnomAD |
|
|
CA383629574 rs1171402948 |
178 | I>M | No |
ClinGen TOPMed |
|
|
rs1242410551 CA383629567 |
179 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
RCV000947411 rs115447939 CA232429548 CA6410905 COSM3688404 |
180 | W>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1309199794 CA383629553 |
181 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1444970361 CA383629551 |
181 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs766719891 CA6410904 |
183 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs760201896 CA383629525 |
185 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6410900 rs760201896 |
185 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs773716188 CA6410902 |
185 | T>S | No |
ClinGen ExAC TOPMed |
|
|
rs760201896 CA6410899 |
185 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA383629521 rs1364109227 |
186 | E>G | No |
ClinGen Ensembl |
|
|
COSM1217579 rs374644294 CA6410897 |
186 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1380791569 CA383629509 |
188 | E>K | No |
ClinGen gnomAD |
|
|
rs1380791569 CA383629508 |
188 | E>Q | No |
ClinGen gnomAD |
|
|
rs371766439 CA6410894 |
189 | E>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs550998848 CA6410895 |
189 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6410893 rs749031879 |
190 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA383629481 rs1320652170 |
191 | E>D | No |
ClinGen TOPMed |
|
|
rs1565590567 COSM3792901 COSM3792900 CA383629487 |
191 | E>Q | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs777872471 CA6410892 |
193 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6410891 rs756073413 |
194 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383629430 rs1354539579 |
199 | G>D | No |
ClinGen gnomAD |
|
|
CA6410886 rs766525476 |
201 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763324152 CA6410885 |
201 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766525476 CA383629422 |
201 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766525476 CA6410887 |
201 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383629419 rs1447770869 |
202 | K>E | No |
ClinGen gnomAD |
|
|
rs988865275 CA232429403 |
202 | K>M | No |
ClinGen gnomAD |
|
|
CA383629408 rs934357031 |
203 | V>A | No |
ClinGen Ensembl |
|
|
CA232429391 rs934357031 |
203 | V>G | No |
ClinGen Ensembl |
|
|
rs1420948419 CA383629412 |
203 | V>M | No |
ClinGen gnomAD |
|
|
CA6410882 rs762196068 |
204 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1392124806 CA383629379 |
207 | D>E | No |
ClinGen gnomAD |
|
|
CA383629386 rs1157952638 |
207 | D>N | No |
ClinGen gnomAD |
|
|
CA383629381 rs1328281150 |
207 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1171970320 CA383629374 |
208 | G>E | No |
ClinGen TOPMed |
|
|
CA232429387 rs375869692 |
208 | G>R | No |
ClinGen gnomAD |
|
|
rs1402822986 CA383629370 |
209 | G>D | No |
ClinGen TOPMed |
|
|
CA383629351 rs1315873685 |
212 | I>N | No |
ClinGen TOPMed |
|
|
rs775115887 CA6410881 |
213 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383629331 rs1472355261 |
215 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA6410879 rs530987192 |
215 | D>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs530987192 CA383629333 |
215 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6410878 rs373801375 |
218 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770657403 CA6410877 |
218 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA232429385 rs373801375 |
218 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383629290 rs1214267262 |
221 | L>P | No |
ClinGen gnomAD |
|
|
rs749124800 CA6410876 |
222 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 222 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1323962431 CA383629289 |
222 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs773107183 CA6410875 |
223 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA6410874 rs748025996 COSM942663 |
223 | P>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs748025996 CA6410873 |
223 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 224 | A>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA232429376 rs375295172 |
225 | G>R | No |
ClinGen ESP gnomAD |
|
|
CA383629269 rs1340586027 |
226 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA6410871 rs755020028 |
227 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs747054702 CA6410870 |
229 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA6410853 rs776449166 |
230 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs529059353 CA6410852 |
231 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs780079206 CA6410850 |
232 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA383629198 rs1240579132 |
233 | A>D | No |
ClinGen gnomAD |
|
|
CA383629196 rs1240579132 |
233 | A>V | No |
ClinGen gnomAD |
|
|
rs201041944 CA6410849 |
234 | P>S | No |
ClinGen 1000Genomes ExAC |
|
|
rs1353492256 COSM1513014 CA383629167 |
238 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA6410848 rs374831227 |
240 | H>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1241326327 CA383629148 |
241 | K>R | No |
ClinGen TOPMed |
|
|
rs370611159 CA6410846 |
242 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6410847 rs779039124 |
242 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs764539201 CA6410844 |
245 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs546571163 CA6410843 |
246 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383629110 rs1368620452 |
247 | V>A | No |
ClinGen gnomAD |
|
|
CA6410842 rs751162128 |
247 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1311405204 CA383629105 |
248 | G>R | No |
ClinGen gnomAD |
|
|
rs1395561991 CA383629101 |
249 | I>L | No |
ClinGen gnomAD |
|
|
rs762764239 CA6410840 |
251 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA232429304 rs199554499 |
251 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199554499 CA383629087 |
251 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6410839 rs199554499 |
251 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1565590135 CA383629074 |
253 | F>S | No |
ClinGen Ensembl |
|
|
CA383629062 rs1211498670 |
255 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6410836 rs138118608 |
257 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6410838 rs753264124 |
257 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383629033 rs895543112 |
259 | E>D | No |
ClinGen Ensembl |
|
|
rs369637319 CA232429276 |
260 | G>E | No |
ClinGen ESP TOPMed |
|
|
CA6410832 rs200105333 |
261 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6410833 rs563690969 |
261 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA232429267 rs934430321 |
263 | R>C | No |
ClinGen gnomAD |
|
|
rs745889974 CA6410831 |
263 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383629014 rs745889974 |
263 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383629008 rs1483988669 |
264 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs771143478 CA6410829 |
268 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs778175323 CA6410827 |
269 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6410828 rs369829074 |
269 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6410826 rs756633651 |
271 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1304686657 CA383628951 |
271 | K>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 272 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1358642735 CA383628921 |
273 | D>Y | No |
ClinGen TOPMed |
|
|
rs1380089792 CA383628899 |
275 | A>S | No |
ClinGen gnomAD |
|
|
CA383628853 rs1362590378 |
278 | Y>C | No |
ClinGen gnomAD |
|
|
rs1412978679 CA383628862 |
278 | Y>H | No |
ClinGen gnomAD |
|
|
CA6410824 rs374821153 |
279 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs911519097 CA232429245 |
280 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1362569766 CA383628813 |
281 | G>R | No |
ClinGen gnomAD |
|
|
CA383628770 rs1257734123 |
283 | F>L | No |
ClinGen gnomAD |
|
|
rs371271025 CA6410822 |
283 | F>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6410823 rs561651056 |
283 | F>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1349785569 CA383628693 |
289 | M>R | No |
ClinGen gnomAD |
|
|
rs1349785569 CA383628695 |
289 | M>T | No |
ClinGen gnomAD |
|
|
rs1217242331 CA383628702 |
289 | M>V | No |
ClinGen gnomAD |
|
|
CA383628683 rs1240988348 |
290 | D>N | No |
ClinGen TOPMed |
|
|
rs573340697 CA6410821 |
291 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6410820 rs761496508 |
291 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs573340697 CA383628667 |
291 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1413229850 CA383628633 |
293 | P>L | No |
ClinGen gnomAD |
|
|
CA383628634 rs1413229850 |
293 | P>R | No |
ClinGen gnomAD |
|
|
rs1592243202 CA383628638 |
293 | P>S | No |
ClinGen Ensembl |
|
|
CA6410818 rs763936761 |
294 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA383628618 rs1196925217 |
295 | S>A | No |
ClinGen gnomAD |
|
|
CA383628507 COSM3812800 rs1301911932 COSM3812801 |
299 | E>K | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA232429070 rs940035667 |
300 | F>C | No |
ClinGen TOPMed |
|
| TCGA novel | 301 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1261341507 CA383628436 |
303 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6410791 rs766472500 |
307 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766472500 CA232429028 |
307 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762870503 CA6410790 |
308 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1393883946 CA383628365 |
308 | R>W | No |
ClinGen gnomAD |
|
|
CA383628350 rs1434818940 |
309 | P>S | No |
ClinGen gnomAD |
|
|
CA6410788 rs375657092 |
310 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA383628340 rs375657092 |
310 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1592242883 CA383628327 |
311 | T>P | No |
ClinGen Ensembl |
|
|
CA6410787 COSM1363719 rs185687202 |
313 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1390652053 CA383628310 |
313 | R>W | No |
ClinGen TOPMed |
|
|
CA6410786 rs777107928 |
314 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1418227403 CA383628299 |
315 | N>D | No |
ClinGen TOPMed |
|
|
CA383628293 rs1281017020 |
315 | N>S | No |
ClinGen gnomAD |
|
|
CA383628248 rs1592242831 |
319 | T>I | No |
ClinGen Ensembl |
|
|
CA6410784 rs747540211 |
319 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA6410783 rs778354597 |
320 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383628233 rs1351840893 |
321 | R>C | No |
ClinGen gnomAD |
|
|
CA232428984 rs926417267 |
321 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA6410781 rs748696521 |
322 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1291797235 CA383628224 |
323 | D>N | No |
ClinGen TOPMed |
|
|
CA383628210 rs1333573428 |
325 | A>T | No |
ClinGen gnomAD |
|
|
rs575082601 CA6410764 |
327 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs575082601 CA383626739 |
327 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA383626731 rs1474962973 |
327 | A>V | No |
ClinGen gnomAD |
|
|
rs1415969034 CA383626700 |
329 | I>M | No |
ClinGen gnomAD |
|
|
rs376891967 CA232428398 |
330 | N>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA6410762 rs762106332 |
330 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA232428396 rs952934418 |
331 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA383626672 rs1214338291 |
331 | R>H | No |
ClinGen gnomAD |
|
|
CA383626657 rs1274273037 |
333 | V>I | No |
ClinGen gnomAD |
|
|
rs769138340 CA6410760 |
335 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1355601479 CA383626593 |
337 | P>H | No |
ClinGen TOPMed |
|
|
CA232428390 rs267603637 |
337 | P>S | No |
ClinGen Ensembl |
|
|
CA383626569 rs1333628300 |
339 | G>D | No |
ClinGen gnomAD |
|
|
CA232428380 rs1002430986 |
344 | T>A | No |
ClinGen TOPMed |
|
|
rs905450487 CA232428364 |
347 | V>L | No |
ClinGen TOPMed |
|
|
CA383626457 rs1269500496 |
348 | V>M | No |
ClinGen gnomAD |
|
|
CA232428327 rs938784834 |
353 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs747271536 CA6410758 |
353 | V>L | No |
ClinGen ExAC |
|
|
rs1214384817 CA383626362 |
354 | P>L | No |
ClinGen TOPMed |
|
|
rs772418034 CA6410756 |
354 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA383626355 rs1392504409 |
355 | I>V | No |
ClinGen gnomAD |
|
|
CA383626260 rs1295754978 |
356 | G>D | No |
ClinGen TOPMed |
|
|
CA383626235 rs1193608357 |
357 | A>V | No |
ClinGen gnomAD |
|
|
CA6410735 rs759945988 |
358 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs202087530 CA6410734 |
359 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA383626172 rs961798369 |
360 | E>D | No |
ClinGen gnomAD |
|
|
rs1480720212 CA383626189 |
360 | E>Q | No |
ClinGen gnomAD |
|
|
CA383626153 rs1349471599 |
362 | L>V | No |
ClinGen gnomAD |
|
|
CA383626110 rs1177871939 CA383626108 |
365 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1014591275 CA232428231 |
365 | H>Y | No |
ClinGen Ensembl |
|
|
rs1592241203 CA383626103 |
366 | Y>H | No |
ClinGen Ensembl |
|
|
rs1233546785 CA383626084 |
367 | M>T | No |
ClinGen gnomAD |
|
|
CA6410731 rs780842606 |
368 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780842606 CA383626068 |
368 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1391775647 CA383626038 |
370 | G>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA232428228 rs1040055726 |
371 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6410729 rs746865866 |
374 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs746865866 CA6410730 |
374 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs369946907 CA6410728 |
376 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1376198150 CA383625968 |
376 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA232428190 rs1027679271 |
377 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1433480316 CA383625953 |
378 | M>L | No |
ClinGen gnomAD |
|
|
rs751109464 CA232428178 |
381 | A>E | No |
ClinGen TOPMed |
|
|
CA6410726 rs750382871 |
383 | Q>K | No |
ClinGen ExAC |
|
|
rs538781201 CA6410725 |
385 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6410724 rs757426936 |
386 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs373326078 CA6410723 |
387 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1249339601 CA383625809 |
388 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1592241070 CA383625755 |
391 | M>I | No |
ClinGen Ensembl |
|
|
rs984516714 CA232428165 |
391 | M>V | No |
ClinGen TOPMed |
|
|
CA383625721 rs1395328827 |
394 | A>T | No |
ClinGen TOPMed |
|
|
CA383625705 rs1209532538 |
395 | P>S | No |
ClinGen gnomAD |
|
|
rs1592241046 CA383625660 |
398 | K>N | No |
ClinGen Ensembl |
|
|
rs764415934 CA6410722 |
399 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA232427779 rs769647551 |
403 | A>V | No |
ClinGen gnomAD |
|
|
rs1565588143 CA383625471 |
405 | L>V | No |
ClinGen Ensembl |
|
|
CA6410707 rs779966500 |
406 | M>L | No |
ClinGen ExAC |
|
|
rs745603072 CA6410705 |
407 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1158410755 CA383625439 |
407 | K>M | No |
ClinGen TOPMed |
|
|
CA6410706 rs745603072 |
407 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 409 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6410704 rs773616064 |
409 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 410 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 414 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6410702 rs754017928 |
415 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1441280397 CA383625328 |
416 | D>N | No |
ClinGen TOPMed |
|
|
CA232427756 rs756424704 |
417 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756424704 CA6410700 |
417 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6410699 rs752863516 |
418 | N>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6410698 rs200565177 |
418 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1382223239 CA383625235 |
421 | R>W | No |
ClinGen gnomAD |
|
|
rs751878726 CA6410696 |
426 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1230835876 CA383625113 |
428 | N>D | No |
ClinGen TOPMed |
|
|
rs1271825396 CA383625088 |
429 | L>F | No |
ClinGen TOPMed |
|
|
CA6410694 rs763431749 |
430 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763431749 CA383625076 |
430 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs935584046 CA232427711 |
430 | H>R | No |
ClinGen TOPMed |
|
|
rs763431749 CA6410695 |
430 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6410692 rs763509029 |
431 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6410693 rs776267063 |
431 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6410689 rs771707726 |
434 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA6410690 rs775020513 |
434 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs775020513 CA383625005 |
434 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA383624977 rs1176802288 |
435 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA383624983 rs1592240269 |
435 | T>P | No |
ClinGen Ensembl |
|
|
CA6410688 rs745697045 |
437 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA383624926 rs745697045 |
437 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA383624929 rs1592240260 |
437 | T>P | No |
ClinGen Ensembl |
|
|
CA383624906 rs1473605626 |
438 | I>T | No |
ClinGen TOPMed |
|
|
CA6410687 rs774264477 |
439 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs771049900 CA6410686 |
440 | S>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 441 | H>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA232427673 rs117466191 |
442 | Y>C | No |
ClinGen 1000Genomes TOPMed |
|
|
CA383624867 rs1162786091 |
442 | Y>D | No |
ClinGen TOPMed |
|
|
CA6410685 COSM942647 rs749232742 |
445 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6410684 rs777695951 |
445 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383624826 rs749232742 |
445 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370619507 CA6410657 |
450 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758775363 CA383624649 |
451 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs758775363 CA6410656 |
451 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 453 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383624574 rs1170542863 |
453 | G>A | No |
ClinGen gnomAD |
|
|
CA232427435 rs939058034 |
453 | G>S | No |
ClinGen TOPMed |
|
| TCGA novel | 457 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1364569438 CA383624494 |
457 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs927646024 CA232427424 |
462 | P>S | No |
ClinGen Ensembl |
|
|
rs757759276 CA6410653 |
464 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6410651 rs767130983 |
469 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759050477 CA383624169 |
470 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA6410650 rs759050477 |
470 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1351906923 CA383624135 |
471 | K>R | No |
ClinGen gnomAD |
|
|
rs1279754012 CA383624123 |
472 | D>N | No |
ClinGen gnomAD |
|
|
CA6410649 rs751266561 |
472 | D>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 474 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773026498 CA6410646 |
475 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA6410647 rs367978783 |
475 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1332160004 CA383623923 |
479 | K>R | No |
ClinGen gnomAD |
|
|
CA6410621 rs761451922 |
484 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA6410620 rs776566938 |
486 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199521899 CA6410619 |
486 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs199521899 CA232427263 |
486 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760776438 CA6410618 |
487 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1004767072 CA232427250 |
488 | A>V | No |
ClinGen gnomAD |
|
|
rs1187023218 CA383623587 |
489 | H>Y | No |
ClinGen gnomAD |
|
|
CA6410617 rs775518751 |
490 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA383623535 rs1391378181 |
492 | K>R | No |
ClinGen TOPMed |
|
|
CA6410616 rs772238735 |
493 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1320589667 CA383623379 |
498 | A>S | No |
ClinGen gnomAD |
|
|
rs746097033 CA6410615 |
499 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA6410614 rs373035166 |
503 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771339838 CA6410613 |
504 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA383623246 COSM3688545 rs1432601807 |
504 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1326819201 CA383623232 |
505 | T>I | No |
ClinGen gnomAD |
|
|
CA383623182 rs1348369971 |
509 | G>R | No |
ClinGen gnomAD |
|
|
rs1172558920 CA383623148 |
511 | Y>C | No |
ClinGen gnomAD |
|
|
rs1455844487 CA383623089 |
515 | C>Y | No |
ClinGen gnomAD |
|
|
CA6410608 rs779700244 |
519 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383623017 rs1193410010 |
520 | T>I | No |
ClinGen gnomAD |
|
|
rs946300341 CA232427053 |
521 | V>L | No |
ClinGen gnomAD |
|
|
CA383622829 rs763870745 |
529 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1224610776 CA383622753 |
535 | R>T | No |
ClinGen gnomAD |
|
|
rs1350108111 CA383622708 |
538 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA6410582 rs755838587 |
538 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6410580 rs368807770 |
542 | T>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6410578 rs774260952 |
544 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA383622652 rs1160290677 |
545 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1410439019 CA383622619 |
548 | Q>H | No |
ClinGen TOPMed |
|
|
rs1410795042 CA383622575 |
552 | T>A | No |
ClinGen gnomAD |
|
|
COSM124793 CA6410576 rs763251667 |
552 | T>I | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs375053144 CA6410575 |
553 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201295423 CA6410574 |
553 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA6410573 rs748469816 |
555 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6410572 rs545010545 |
558 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383622512 rs545010545 |
558 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs202020626 CA6410571 |
558 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs202020626 CA6410570 |
558 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1592239171 CA383622482 |
560 | H>P | No |
ClinGen Ensembl |
|
|
rs1216255434 CA383622472 |
561 | P>S | No |
ClinGen gnomAD |
|
|
rs1437920243 CA383622456 |
562 | S>G | No |
ClinGen TOPMed |
|
|
COSM3782760 COSM1991891 CA6410568 rs770629626 |
564 | R>C | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6410566 rs777348075 |
564 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6410567 rs777348075 |
564 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142370738 CA6410565 |
565 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6410564 rs752395187 |
566 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs367594016 CA6410563 |
567 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs754845259 CA6410562 |
568 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA383622379 rs1459764343 |
568 | R>H | No |
ClinGen TOPMed |
|
|
CA383622367 rs1166374936 |
569 | F>Y | No |
ClinGen TOPMed |
|
|
rs751715863 CA6410561 |
570 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 571 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs182875583 CA232426916 |
571 | P>T | No |
ClinGen 1000Genomes |
|
|
CA383622300 rs1430508719 |
574 | H>Y | No |
ClinGen TOPMed |
|
|
rs1186232451 CA383622267 |
576 | M>T | No |
ClinGen gnomAD |
|
|
rs1592239041 CA383622217 |
579 | F>V | No |
ClinGen Ensembl |
|
|
rs750691531 CA6410558 |
581 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1309981950 CA383622123 |
585 | K>R | No |
ClinGen TOPMed |
|
|
rs1369619837 CA383622107 |
586 | K>T | No |
ClinGen gnomAD |
|
|
rs1592238993 CA383622051 |
589 | N>S | No |
ClinGen Ensembl |
|
| TCGA novel | 590 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1335727922 CA383622004 |
592 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs765511648 CA6410557 |
592 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1264880030 CA383621997 |
593 | Q>* | No |
ClinGen gnomAD |
|
|
CA383621962 rs1309736087 |
595 | Q>R | No |
ClinGen gnomAD |
|
|
rs769255969 CA383621949 |
596 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA6410555 rs574567203 |
596 | T>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs769255969 CA6410554 |
596 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs761040383 CA6410535 |
597 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761075650 CA6410553 CA383621943 |
597 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs78179294 CA6410534 |
601 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA383620307 rs78179294 |
601 | T>S | No |
ClinGen ExAC gnomAD |
|
| rs1565584999 | 602 | A>M | No | Ensembl | |
|
CA6410533 rs767968975 |
604 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1018698773 CA232423407 |
606 | N>S | No |
ClinGen Ensembl |
|
|
CA232423392 rs375691076 |
609 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6410531 rs772686785 |
609 | L>W | No |
ClinGen ExAC gnomAD |
|
|
CA6410530 rs769492644 |
610 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6410529 rs747749587 |
611 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA232423360 rs907350372 |
611 | Q>P | No |
ClinGen TOPMed |
|
|
rs946290143 CA232423344 |
614 | P>R | No |
ClinGen TOPMed |
|
|
CA6410526 rs555766149 |
615 | K>N | No |
ClinGen 1000Genomes ExAC |
|
|
CA383620217 rs1255047609 |
616 | S>T | No |
ClinGen gnomAD |
|
|
rs746771676 CA6410525 |
617 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs758378920 CA6410523 |
619 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA6410522 rs745997812 |
620 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383620182 rs1277528271 |
621 | Q>E | No |
ClinGen TOPMed |
|
|
CA232423292 rs1006803754 |
622 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA383620163 rs1365580696 |
624 | K>E | No |
ClinGen gnomAD |
|
|
rs1320144383 CA383620161 |
624 | K>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 624 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6410520 rs757569290 |
625 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6410519 rs200015157 |
627 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6410518 rs202124597 |
628 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA383620129 rs1227442315 |
629 | A>S | No |
ClinGen gnomAD |
|
|
rs199862207 CA6410517 |
629 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1450487330 CA383620111 |
632 | T>A | No |
ClinGen gnomAD |
|
|
CA232423273 rs1038101859 |
632 | T>I | No |
ClinGen Ensembl |
|
|
rs539899594 CA232423257 |
633 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs539899594 CA6410515 |
633 | K>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6410513 rs200848672 |
634 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6410514 rs200848672 |
634 | Q>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 638 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761330919 CA6410510 |
639 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA232423197 rs377459325 |
640 | Q>R | No |
ClinGen ESP TOPMed |
|
|
rs1299807141 CA383620050 |
641 | H>Y | No |
ClinGen gnomAD |
|
|
rs776171806 CA6410509 |
642 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA6410507 rs551573004 |
645 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 646 | S>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6410506 rs775407761 |
646 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1370047299 CA383620005 |
648 | Q>E | No |
ClinGen gnomAD |
|
|
CA383620001 rs1294293789 |
648 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1410265805 CA383619995 |
649 | K>* | No |
ClinGen TOPMed |
|
|
CA6410504 rs200739797 |
650 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6410505 rs772198531 |
650 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs922388251 CA232423126 |
651 | N>S | No |
ClinGen TOPMed |
|
|
CA6410503 rs778930017 |
653 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377338189 CA232423091 |
658 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377338189 CA383619941 |
658 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6410501 rs377338189 |
658 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6410500 rs777894143 |
660 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA383619925 rs1426852913 |
660 | E>V | No |
ClinGen gnomAD |
|
|
rs756332920 CA6410499 |
661 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA383619907 rs1442493814 |
663 | T>S | No |
ClinGen TOPMed |
|
|
CA383619893 rs1483367357 |
665 | P>L | No |
ClinGen gnomAD |
|
|
rs755266985 CA6410496 |
668 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA6410495 rs752073281 |
668 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA383619867 rs1592235117 |
670 | T>P | No |
ClinGen Ensembl |
|
|
rs199961977 CA6410493 |
672 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199961977 CA6410494 |
672 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753358648 CA6410492 |
672 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs763704142 CA6410491 |
673 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA232423012 rs1016877698 |
673 | S>P | No |
ClinGen TOPMed |
|
|
rs555926770 CA6410490 |
675 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775495945 CA6410489 |
675 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs759349947 CA6410487 |
676 | F>C | No |
ClinGen ExAC |
|
|
rs1370518641 CA383619834 |
676 | F>L | No |
ClinGen gnomAD |
|
|
CA6410486 rs774458716 |
678 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770867434 CA6410485 |
680 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA6410484 rs749371949 |
681 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA6410483 rs777895271 |
681 | Q>H | No |
ClinGen ExAC |
|
|
rs769975593 CA6410482 |
683 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA383619783 rs769975593 |
683 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs781331024 CA6410479 |
687 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6410478 rs755360565 |
688 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA383619732 rs1484193935 |
691 | E>A | No |
ClinGen gnomAD |
|
|
rs1005611741 CA232422929 |
693 | K>Q | No |
ClinGen TOPMed |
|
|
rs758917602 CA6410475 |
695 | T>P | No |
ClinGen ExAC |
|
|
CA6410474 rs531391156 |
696 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6410473 rs763659771 |
697 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs760198987 CA6410472 |
699 | K>Q | No |
ClinGen ExAC |
|
|
CA6410469 rs767235564 |
701 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA6410468 COSM3688402 RCV000947409 rs61731913 |
701 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA6410467 rs774170503 |
703 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774170503 CA383619660 |
703 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA232422911 rs1033318223 |
703 | P>S | No |
ClinGen TOPMed |
|
|
CA6410466 rs770828048 |
705 | L>* | No |
ClinGen ExAC |
|
|
CA383619649 rs1302679461 |
705 | L>V | No |
ClinGen gnomAD |
|
|
CA6410465 rs762943410 |
707 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA383619635 rs1162143910 |
707 | S>P | No |
ClinGen gnomAD |
|
|
rs769875087 CA6410463 |
709 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383619617 rs1410675880 |
710 | K>E | No |
ClinGen gnomAD |
|
|
rs1166022181 CA383619602 |
712 | A>S | No |
ClinGen TOPMed |
|
|
CA6410462 rs566938099 |
715 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA232422858 rs373598365 |
719 | P>L | No |
ClinGen ESP TOPMed |
|
|
rs1410276064 CA383619554 |
719 | P>S | No |
ClinGen TOPMed |
|
|
CA6410460 rs201606713 |
721 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1451441616 CA383619533 |
722 | G>V | No |
ClinGen TOPMed |
|
|
rs376783458 CA6410459 |
724 | D>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6410458 rs559680903 |
725 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6410457 rs750948336 |
726 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750948336 CA6410456 |
726 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA232422805 rs779232249 |
728 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6410454 rs200914055 |
728 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs779232249 CA6410455 |
728 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 729 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs78286791 CA232422784 |
730 | V>G | No |
ClinGen Ensembl |
|
|
rs1010432917 CA232422788 |
730 | V>L | No |
ClinGen TOPMed |
|
|
CA383619487 rs1247053428 |
731 | L>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1247053428 CA383619486 |
731 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1247922922 CA383619481 |
732 | S>P | No |
ClinGen gnomAD |
|
|
CA383619472 rs1394671084 |
733 | P>L | No |
ClinGen gnomAD |
|
|
rs367710829 CA6410451 |
733 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383619467 rs751376572 |
734 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs751376572 CA6410450 |
734 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs762595985 CA6410448 |
735 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA232422778 rs374733677 |
735 | K>M | No |
ClinGen ESP TOPMed |
|
|
CA383619457 rs1044022764 |
736 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA232422763 rs1044022764 |
736 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs577293518 CA6410447 |
736 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383619455 rs1475683852 |
737 | Q>E | No |
ClinGen TOPMed |
|
|
rs138002513 CA6410445 |
737 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6410444 rs776670883 |
738 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs371746987 CA6410440 |
740 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775513388 CA6410441 |
740 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA383619423 rs1592234335 |
742 | P>R | No |
ClinGen Ensembl |
|
|
CA383619404 rs1488817294 |
745 | H>N | No |
ClinGen gnomAD |
|
|
CA383619403 rs1488817294 |
745 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6410437 rs757813785 |
746 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA6410436 rs747714943 |
747 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383619384 rs1298865411 |
747 | Q>H | No |
ClinGen gnomAD |
|
|
CA232422693 rs935589881 |
749 | L>F | No |
ClinGen TOPMed |
|
|
CA383619369 rs1294191300 |
750 | G>E | No |
ClinGen TOPMed |
|
|
rs1379983288 CA383619371 |
750 | G>R | No |
ClinGen TOPMed |
|
|
CA6410433 rs751237191 |
752 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6410434 rs751237191 |
752 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765896220 CA6410432 |
755 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA383619318 rs1390742419 |
758 | Q>* | No |
ClinGen gnomAD |
|
|
CA383619310 rs1292428648 |
759 | Q>* | No |
ClinGen gnomAD |
|
|
rs1280568591 CA383619306 |
759 | Q>H | No |
ClinGen TOPMed |
|
|
rs2534700 CA232422645 |
760 | L>F | No |
ClinGen Ensembl |
|
|
rs2534699 CA232422644 |
761 | P>A | No |
ClinGen Ensembl |
|
|
rs2534699 CA383619297 |
761 | P>S | No |
ClinGen Ensembl |
|
|
CA6410430 rs374348066 |
762 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367974871 CA232422631 |
762 | E>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs765209375 CA6410429 |
763 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs761726581 CA6410428 |
764 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383619278 rs1448600993 |
764 | P>S | No |
ClinGen gnomAD |
|
|
rs776759001 CA6410427 |
768 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs866738901 CA232422598 |
768 | A>V | No |
ClinGen Ensembl |
|
|
rs1433981476 CA383619246 |
769 | A>T | No |
ClinGen gnomAD |
|
|
rs1220327255 CA383619240 |
770 | F>L | No |
ClinGen gnomAD |
|
|
rs760618344 CA6410425 |
771 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA383619228 rs1203513190 |
771 | Q>R | No |
ClinGen TOPMed |
|
|
CA6410424 rs775805529 |
773 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372507324 CA6410423 CA383619205 |
774 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA232422582 rs959288805 |
775 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1592233966 CA383619197 |
776 | T>P | No |
ClinGen Ensembl |
|
|
CA383619188 rs774840996 |
777 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA6410421 rs774840996 |
777 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs746289611 CA6410422 |
777 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs771628633 CA6410420 |
778 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA232422544 rs749816882 |
780 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs749816882 CA6410419 |
780 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA6410418 rs778366150 |
782 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6410417 rs754537421 |
782 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383619151 rs754537421 |
782 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1428878266 CA383619133 |
784 | T>I | No |
ClinGen gnomAD |
|
|
CA383619129 rs1394159211 |
785 | V>M | No |
ClinGen gnomAD |
|
|
RCV000899867 rs557643802 |
786 | S>missing | No |
ClinVar dbSNP |
|
|
rs1174097527 CA383619109 |
787 | P>H | No |
ClinGen gnomAD |
|
|
rs1466790855 CA383619096 |
788 | I>M | No |
ClinGen gnomAD |
|
|
CA383619103 rs1383275217 |
788 | I>V | No |
ClinGen TOPMed |
|
|
CA6410414 rs779798612 |
789 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383619093 rs779798612 |
789 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757967359 CA6410413 |
789 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA383619091 rs757967359 |
789 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1473586095 CA383619074 |
791 | S>T | No |
ClinGen gnomAD |
|
|
rs750291481 CA6410412 COSM304633 |
792 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6410411 rs371243135 |
792 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6410410 rs756983167 |
793 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA232422485 rs756983167 |
793 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 794 | P>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6410409 rs753790573 |
794 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1020726223 CA232422465 |
794 | P>R | No |
ClinGen TOPMed |
|
|
CA383619055 rs753790573 |
794 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA6410405 rs368259918 |
797 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383619003 rs1409199511 |
800 | K>N | No |
ClinGen gnomAD |
|
|
CA6410403 rs375560827 |
800 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375560827 CA6410402 |
800 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6410401 rs199538833 |
802 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383618988 rs1335984079 |
802 | Q>R | No |
ClinGen gnomAD |
|
|
CA6410399 rs771434512 |
804 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs763360596 CA6410398 |
805 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383618957 rs1592233471 |
806 | N>T | No |
ClinGen Ensembl |
|
|
rs1412877271 CA383618944 |
807 | S>R | No |
ClinGen gnomAD |
|
| TCGA novel | 808 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383618942 rs1158501386 |
808 | Q>K | No |
ClinGen gnomAD |
|
|
CA6410394 rs746579851 |
812 | S>F | No |
ClinGen ExAC gnomAD |
No associated diseases with P46087
7 regional properties for P46087
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | SAM-dependent methyltransferase RsmB/NOP2-type | 300 - 587 | IPR001678 |
| domain | Nop2p | 312 - 586 | IPR011023 |
| repeat | P120R repeat | 623 - 644 | IPR012586-1 |
| repeat | P120R repeat | 683 - 705 | IPR012586-2 |
| repeat | P120R repeat | 749 - 768 | IPR012586-3 |
| conserved_site | Bacterial Fmu (Sun)/eukaryotic nucleolar NOL1/Nop2p, conserved site | 454 - 465 | IPR018314 |
| domain | Ribosomal RNA small subunit methyltransferase F, N-terminal | 295 - 374 | IPR031341 |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| RNA binding | Binding to an RNA molecule or a portion thereof. |
| rRNA (cytosine-C5-)-methyltransferase activity | Catalysis of the transfer of a methyl group from S-adenosyl-L-methionine to cytosine to form 5-methylcytosine in small subunit ribosomal RNA. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| maturation of LSU-rRNA | Any process involved in the maturation of a precursor Large SubUnit (LSU) ribosomal RNA (rRNA) molecule into a mature LSU-rRNA molecule. |
| positive regulation of cell population proliferation | Any process that activates or increases the rate or extent of cell proliferation. |
| regulation of signal transduction by p53 class mediator | Any process that modulates the frequency, rate or extent of signal transduction by p53 class mediator. |
| ribosomal large subunit assembly | The aggregation, arrangement and bonding together of constituent RNAs and proteins to form the large ribosomal subunit. |
| RNA methylation | Posttranscriptional addition of a methyl group to either a nucleotide or 2'-O ribose in a polyribonucleotide. Usually uses S-adenosylmethionine as a cofactor. |
| rRNA base methylation | The addition of a methyl group to an atom in the nucleoside base portion of a nucleotide residue in an rRNA molecule. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q922K7 | Nop2 | Probable 28S rRNA (cytosine-C(5))-methyltransferase | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGRKLDPTKE | KRGPGRKARK | QKGAETELVR | FLPAVSDENS | KRLSSRARKR | AAKRRLGSVE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| APKTNKSPEA | KPLPGKLPKG | ISAGAVQTAG | KKGPQSLFNA | PRGKKRPAPG | SDEEEEEEDS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EEDGMVNHGD | LWGSEDDADT | VDDYGADSNS | EDEEEGEALL | PIERAARKQK | AREAAAGIQW |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SEEETEDEEE | EKEVTPESGP | PKVEEADGGL | QINVDEEPFV | LPPAGEMEQD | AQAPDLQRVH |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KRIQDIVGIL | RDFGAQREEG | RSRSEYLNRL | KKDLAIYYSY | GDFLLGKLMD | LFPLSELVEF |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LEANEVPRPV | TLRTNTLKTR | RRDLAQALIN | RGVNLDPLGK | WSKTGLVVYD | SSVPIGATPE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| YLAGHYMLQG | ASSMLPVMAL | APQEHERILD | MCCAPGGKTS | YMAQLMKNTG | VILANDANAE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| RLKSVVGNLH | RLGVTNTIIS | HYDGRQFPKV | VGGFDRVLLD | APCSGTGVIS | KDPAVKTNKD |
| 490 | 500 | 510 | 520 | 530 | 540 |
| EKDILRCAHL | QKELLLSAID | SVNATSKTGG | YLVYCTCSIT | VEENEWVVDY | ALKKRNVRLV |
| 550 | 560 | 570 | 580 | 590 | 600 |
| PTGLDFGQEG | FTRFRERRFH | PSLRSTRRFY | PHTHNMDGFF | IAKFKKFSNS | IPQSQTGNSE |
| 610 | 620 | 630 | 640 | 650 | 660 |
| TATPTNVDLP | QVIPKSENSS | QPAKKAKGAA | KTKQQLQKQQ | HPKKASFQKL | NGISKGADSE |
| 670 | 680 | 690 | 700 | 710 | 720 |
| LSTVPSVTKT | QASSSFQDSS | QPAGKAEGIR | EPKVTGKLKQ | RSPKLQSSKK | VAFLRQNAPP |
| 730 | 740 | 750 | 760 | 770 | 780 |
| KGTDTQTPAV | LSPSKTQATL | KPKDHHQPLG | RAKGVEKQQL | PEQPFEKAAF | QKQNDTPKGP |
| 790 | 800 | 810 | |||
| QPPTVSPIRS | SRPPPAKRKK | SQSRGNSQLL | LS |