Q86YV0
PR
Gene name |
RASAL3 |
Protein name |
RAS protein activator like-3 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:64926 |
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 Q86YV0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q86YV0-F1 | Predicted | AlphaFoldDB |
922 variants for Q86YV0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA305797815 rs564822873 |
2 | D>A | No |
ClinGen 1000Genomes |
|
|
rs1480186136 CA404538731 |
2 | D>H | No |
ClinGen gnomAD |
|
|
CA305797814 rs1031160950 |
4 | P>R | No |
ClinGen TOPMed |
|
|
CA9268930 rs748756130 |
5 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1168577466 CA404538631 |
6 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1427406447 CA404538626 |
7 | S>G | No |
ClinGen gnomAD |
|
|
CA404538621 rs1416779998 |
7 | S>T | No |
ClinGen gnomAD |
|
|
rs779880306 CA404538597 |
8 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779880306 CA9268929 |
8 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404538604 rs1187850062 |
8 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1219941102 CA404538589 |
9 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA305797781 rs993965723 |
10 | S>P | No |
ClinGen Ensembl |
|
|
CA404538548 rs1292398611 |
13 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1599757194 CA404538544 |
14 | P>T | No |
ClinGen Ensembl |
|
|
rs1425283338 CA404538507 |
16 | A>V | No |
ClinGen Ensembl |
|
|
CA404538501 rs1599757167 |
17 | T>P | No |
ClinGen Ensembl |
|
|
CA404538470 rs1478188830 |
19 | P>A | No |
ClinGen TOPMed |
|
|
CA404538431 rs1599757124 |
21 | T>N | No |
ClinGen Ensembl |
|
|
rs867608672 CA305797771 |
22 | S>F | No |
ClinGen Ensembl |
|
|
rs1411510013 CA404538379 |
24 | R>G | No |
ClinGen TOPMed |
|
|
CA404538345 rs1366653917 |
25 | W>* | No |
ClinGen gnomAD |
|
|
CA9268924 rs753250537 |
25 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1307892327 CA404538303 |
27 | T>K | No |
ClinGen gnomAD |
|
|
rs765673574 CA9268923 |
28 | G>A | No |
ClinGen ExAC TOPMed |
|
|
CA404538295 rs1352213286 |
28 | G>R | No |
ClinGen gnomAD |
|
|
CA9268922 rs765673574 |
28 | G>V | No |
ClinGen ExAC TOPMed |
|
|
rs753960572 CA9268919 |
29 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA404538271 rs753960572 |
29 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA9268920 rs753960572 |
29 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs761015979 CA9268917 |
30 | G>S | No |
ClinGen ExAC |
|
|
rs767352560 CA9268915 |
31 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305797720 rs767352560 |
31 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404538228 rs1377662042 |
32 | E>K | No |
ClinGen TOPMed |
|
|
CA404538191 rs1228200380 |
33 | K>R | No |
ClinGen TOPMed |
|
|
CA631952343 rs1568336171 |
34 | A>E | No |
ClinGen Ensembl |
|
|
rs199767735 CA9268913 |
34 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed |
|
|
rs199767735 CA9268914 |
34 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed |
|
|
rs1261492475 CA404538125 |
37 | G>R | No |
ClinGen gnomAD |
|
|
rs1599756831 CA404538102 |
38 | F>V | No |
ClinGen Ensembl |
|
|
rs1225587629 CA404538077 |
39 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs200316974 CA9268911 |
39 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404538074 rs200316974 |
39 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9268909 rs769410434 |
42 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404538015 rs1376132540 |
42 | R>H | No |
ClinGen gnomAD |
|
|
rs935027439 CA305797696 |
43 | F>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 43 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 45 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404537918 rs1404724547 |
46 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs530306832 CA9268908 |
46 | W>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA404537907 rs1173736774 |
47 | G>C | No |
ClinGen gnomAD |
|
|
CA404537905 rs1470763236 |
47 | G>V | No |
ClinGen gnomAD |
|
|
CA404537864 rs1429679552 |
49 | A>V | No |
ClinGen gnomAD |
|
|
CA9268906 rs772498099 |
51 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1252561923 CA404537816 |
53 | Q>* | No |
ClinGen gnomAD |
|
|
rs1177777668 CA404537795 |
54 | E>K | No |
ClinGen gnomAD |
|
|
rs200535648 CA9268905 |
55 | P>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1599756647 CA404537734 |
57 | V>D | No |
ClinGen Ensembl |
|
|
CA404537686 rs1205757052 |
60 | Q>* | No |
ClinGen gnomAD |
|
|
rs755529689 CA9268903 |
61 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs754330934 CA9268902 |
62 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404537641 rs1358010912 |
63 | P>A | No |
ClinGen TOPMed |
|
|
CA9268900 rs780179344 |
63 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 64 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 64 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1395968414 CA404537614 |
64 | R>P | No |
ClinGen gnomAD |
|
|
rs767588134 CA9268897 |
65 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA404537569 rs1385505858 |
66 | I>M | No |
ClinGen TOPMed |
|
|
rs1454152498 CA404537575 |
66 | I>T | No |
ClinGen gnomAD |
|
|
rs761696731 CA9268896 |
68 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1043482008 CA305797657 |
69 | R>G | No |
ClinGen TOPMed |
|
|
CA305797655 rs867394339 |
69 | R>P | No |
ClinGen Ensembl |
|
|
CA404537521 rs931748374 |
70 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA305797653 rs931748374 |
70 | V>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 73 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9268893 rs202135848 |
74 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763038054 CA9268892 |
75 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9268891 rs775563353 |
76 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA9268889 rs758910891 |
77 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs769350098 CA9268890 |
77 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9268888 rs776366972 |
79 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9268887 rs541077407 |
80 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA404537341 rs1336001968 |
81 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA9268886 rs201278861 |
82 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA305797619 rs866548350 |
84 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9268885 rs779309220 |
84 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA404537282 rs1170373350 |
85 | L>F | No |
ClinGen TOPMed |
|
|
rs199923468 CA9268884 |
87 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749804279 CA9268883 |
88 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA404537209 rs1386809762 |
89 | L>I | No |
ClinGen gnomAD |
|
|
CA9268880 rs750433106 |
90 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA9268881 rs756242926 |
90 | W>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1445239502 CA404537140 |
92 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 93 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404537086 rs1191280703 |
94 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA305797580 rs1027638613 |
95 | N>K | No |
ClinGen TOPMed |
|
|
CA404537049 rs1427069067 |
96 | P>Q | No |
ClinGen gnomAD |
|
|
rs1378036418 CA404537057 |
96 | P>S | No |
ClinGen TOPMed |
|
|
rs751814881 CA9268877 |
98 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs751814881 CA404537009 |
98 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9268874 rs752695161 |
99 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9268875 rs576289327 |
99 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9268873 rs540049265 |
100 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1363443145 CA404536974 |
100 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 101 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9268871 rs776055237 |
103 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA404536905 rs1327787958 |
104 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs772788962 CA9268867 |
108 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs749608128 CA9268865 |
109 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9268866 rs769026236 |
109 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 112 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770178704 CA9268845 |
112 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM1391143 CA9268843 rs777124930 |
113 | P>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA9268844 rs746425424 |
113 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9268841 rs747036880 |
114 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs778171668 CA9268840 |
115 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs536246917 CA305796430 |
116 | E>D | No |
ClinGen TOPMed |
|
|
rs758732711 CA9268839 |
116 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201708162 CA9268838 |
117 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1253999758 CA404534735 |
119 | P>L | No |
ClinGen TOPMed |
|
|
rs866127987 CA305796409 |
120 | P>H | No |
ClinGen Ensembl |
|
| rs1198600060 | 120 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs987243350 CA305796411 |
120 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1267849766 CA404534698 |
122 | P>A | No |
ClinGen TOPMed |
|
|
rs955396267 CA305796397 |
125 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs569381738 CA404534604 |
126 | E>* | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs569381738 CA305796390 |
126 | E>K | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA9268836 rs201037942 |
127 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1429927874 CA404534566 |
127 | A>S | No |
ClinGen TOPMed |
|
|
rs368592720 CA9268835 |
129 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1293436061 CA404534446 |
130 | P>L | No |
ClinGen TOPMed |
|
|
CA9268834 rs779997139 |
131 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404534435 rs1244527526 |
131 | N>S | No |
ClinGen gnomAD |
|
|
rs755654775 CA9268833 |
132 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749979282 CA9268832 |
136 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA404534280 rs1225364403 |
137 | I>T | No |
ClinGen gnomAD |
|
|
rs1354278213 CA404534254 |
138 | G>V | No |
ClinGen gnomAD |
|
|
rs374597735 CA9268831 |
141 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374597735 CA404534187 |
141 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404534158 rs1276948424 |
143 | L>V | No |
ClinGen TOPMed |
|
|
rs186740871 CA305796362 |
145 | G>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1320650490 CA404533948 |
152 | G>R | No |
ClinGen gnomAD |
|
|
rs1420721625 CA404533929 |
153 | E>* | No |
ClinGen gnomAD |
|
|
rs1162231511 CA404533896 |
154 | E>D | No |
ClinGen gnomAD |
|
|
CA404533908 rs1260695178 |
154 | E>K | No |
ClinGen TOPMed |
|
|
rs1442238056 CA404533892 |
155 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs779795833 CA9268812 |
156 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA9268813 rs572529686 |
156 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 157 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9268811 rs756096492 |
158 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750343840 CA9268810 COSM992254 |
158 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1599750651 CA404533732 |
159 | R>G | No |
ClinGen Ensembl |
|
|
rs527734825 CA9268809 |
159 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1267984254 CA404533699 |
160 | P>H | No |
ClinGen gnomAD |
|
|
rs1267984254 CA404533694 |
160 | P>L | No |
ClinGen gnomAD |
|
|
CA9268807 rs751182066 |
161 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9268808 rs756715519 |
161 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404533664 rs754268012 |
162 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA9268804 rs754268012 |
162 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs369461607 CA9268805 |
162 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404533624 rs1275378471 |
164 | S>N | No |
ClinGen gnomAD |
|
|
CA404533607 rs1426571324 |
165 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 168 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9268801 rs372725125 |
168 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772292750 CA9268800 |
172 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA9268798 rs774472231 |
173 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9268799 rs761907307 |
173 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201931477 CA9268797 |
174 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9268796 rs749451728 |
175 | M>T | No |
ClinGen ExAC TOPMed |
|
|
CA305796111 rs866146360 |
176 | G>K | No |
ClinGen Ensembl |
|
| TCGA novel | 176 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1599750437 CA404533257 |
179 | R>S | No |
ClinGen Ensembl |
|
|
CA305796051 rs1010623885 |
182 | D>V | No |
ClinGen TOPMed |
|
|
CA9268770 rs375319833 |
183 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9268771 rs770941146 |
183 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA9268769 rs777399004 |
184 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404533054 rs1319206148 |
185 | P>S | No |
ClinGen gnomAD |
|
|
CA404533039 rs1319756002 |
186 | G>R | No |
ClinGen gnomAD |
|
|
CA305796043 rs905068932 |
187 | K>E | No |
ClinGen Ensembl |
|
|
CA9268767 rs372259496 |
190 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1214898143 CA404532929 |
191 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1397468936 CA404532910 |
192 | T>I | No |
ClinGen gnomAD |
|
|
rs368197037 CA9268763 |
193 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1222776730 CA404532843 |
195 | P>R | No |
ClinGen TOPMed |
|
|
CA9268762 rs756581550 |
196 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 198 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9268760 rs767753533 |
199 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs752002884 CA9268758 COSM3692451 |
201 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA404532671 rs764236268 |
202 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1189850211 CA404532665 |
202 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9268756 rs764236268 |
202 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs938773578 CA305795679 |
203 | G>R | No |
ClinGen gnomAD |
|
|
CA404532345 rs1395938215 |
205 | L>V | No |
ClinGen gnomAD |
|
|
rs1166353201 CA404532332 |
206 | K>Q | No |
ClinGen gnomAD |
|
|
CA305795676 rs913087982 |
207 | R>S | No |
ClinGen TOPMed |
|
|
CA404532155 COSM992253 rs1329503016 |
211 | K>N | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs759809770 CA9268732 |
211 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA9268731 rs3764565 |
213 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404532029 rs766209977 |
216 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs760338432 CA9268728 |
216 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs374061497 CA9268727 |
218 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367734005 CA9268725 |
219 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9268726 rs200139548 |
219 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9268724 rs774067803 |
221 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA305795666 rs980093224 |
221 | G>R | No |
ClinGen gnomAD |
|
|
CA404530094 rs1380433340 |
222 | P>R | No |
ClinGen gnomAD |
|
|
CA404530099 rs1568331001 |
222 | P>T | No |
ClinGen Ensembl |
|
|
CA9268705 rs774367092 |
225 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404529960 rs1253074870 |
230 | E>Q | No |
ClinGen TOPMed |
|
|
CA9268704 rs768290742 |
231 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs201327108 CA9268702 |
233 | A>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs762316553 CA9268703 |
233 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762316553 CA404529895 |
233 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9268701 rs201327108 |
233 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1168796021 CA404529866 |
234 | T>I | No |
ClinGen TOPMed |
|
|
CA305794818 rs962894363 |
241 | G>D | No |
ClinGen gnomAD |
|
|
CA404529751 rs772421463 |
242 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9268698 rs772421463 |
242 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779344192 CA9268697 |
243 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs779344192 CA9268696 |
243 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs201985806 CA9268695 |
244 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA404529734 rs1420880592 |
245 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs199581398 CA9268693 |
247 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9268694 COSM992251 rs749369708 |
247 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs756351701 CA404529713 |
248 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9268692 rs756351701 |
248 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1163550211 CA404529709 |
249 | W>* | No |
ClinGen gnomAD |
|
|
rs767427724 CA9268690 |
249 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs767427724 CA305794796 |
249 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA9268691 rs750657994 |
249 | W>G | No |
ClinGen ExAC gnomAD |
|
|
CA9268689 VAR_061179 rs58123634 |
251 | L>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA404529676 rs1273320781 |
253 | P>L | No |
ClinGen TOPMed |
|
|
rs764080551 CA9268687 |
253 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs762914617 CA9268686 |
254 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9268685 rs764788764 |
254 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1030184347 CA305794771 |
257 | G>R | No |
ClinGen Ensembl |
|
|
CA404529605 rs1316417696 |
258 | E>* | No |
ClinGen gnomAD |
|
|
rs1568330727 CA404529555 |
259 | P>L | No |
ClinGen Ensembl |
|
|
rs368831027 CA9268680 |
260 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774757566 CA9268662 |
265 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774757566 CA305794663 |
265 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9268661 rs769063742 |
267 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs372081880 CA9268659 |
268 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9268658 rs769782629 |
269 | G>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 269 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1173834333 CA404529186 |
270 | S>N | No |
ClinGen gnomAD |
|
|
rs953731931 CA404529142 |
272 | C>* | No |
ClinGen TOPMed gnomAD |
|
|
rs934510250 CA305794636 |
276 | R>C | No |
ClinGen Ensembl |
|
|
CA404529025 rs1425819687 |
276 | R>H | No |
ClinGen gnomAD |
|
|
CA404529010 rs1437911239 |
277 | S>A | No |
ClinGen gnomAD |
|
|
CA9268655 rs771324060 |
277 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9268652 rs758145558 |
279 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1157096272 CA404528966 |
280 | E>D | No |
ClinGen TOPMed |
|
|
rs199723638 CA404528975 |
280 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9268651 rs199723638 |
280 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9268650 rs778870432 |
281 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9268649 rs754840921 |
282 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA9268648 rs753396666 |
283 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1310979660 CA404528916 |
284 | W>* | No |
ClinGen gnomAD |
|
|
CA404528896 rs1447123574 |
285 | I>M | No |
ClinGen gnomAD |
|
| TCGA novel | 286 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 289 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404528835 rs1406007069 |
290 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs760390003 CA9268646 |
290 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404528790 rs1467407167 |
293 | Q>H | No |
ClinGen gnomAD |
|
|
CA404528769 rs1359608042 |
295 | T>I | No |
ClinGen gnomAD |
|
|
CA404528714 rs1246597213 |
298 | N>D | No |
ClinGen gnomAD |
|
|
rs748014869 CA404528706 |
299 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA9268634 rs748014869 |
299 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA404528697 rs1277291217 |
300 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 305 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404528661 rs1298735005 |
305 | W>L | No |
ClinGen gnomAD |
|
|
CA9268631 rs753772158 |
308 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404528599 rs1295482099 |
309 | W>* | No |
ClinGen gnomAD |
|
|
rs779546048 CA9268630 |
311 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs558805318 CA9268629 |
312 | E>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1168909705 CA404528535 |
313 | A>P | No |
ClinGen gnomAD |
|
|
CA404528541 rs1168909705 |
313 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 314 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs999181540 CA305794301 |
316 | L>P | No |
ClinGen Ensembl |
|
|
rs1198855491 CA404528451 |
317 | P>A | No |
ClinGen gnomAD |
|
|
CA404528416 rs1450518854 |
318 | R>P | No |
ClinGen gnomAD |
|
|
rs1264708435 CA404528396 |
319 | A>G | No |
ClinGen gnomAD |
|
|
CA305794299 rs376927768 |
320 | A>E | No |
ClinGen Ensembl |
|
|
rs1255470237 CA404528351 |
321 | A>T | No |
ClinGen gnomAD |
|
|
CA404528307 rs1189218507 |
323 | A>S | No |
ClinGen TOPMed |
|
|
rs1230779550 CA404528284 |
324 | P>S | No |
ClinGen TOPMed |
|
|
rs1270683925 CA404528267 |
325 | G>A | No |
ClinGen gnomAD |
|
|
CA9268626 rs756825291 |
325 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA305794292 rs907894884 |
326 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs538464444 CA9268625 |
327 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs538464444 CA404528222 |
327 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1568329780 CA404528121 |
331 | W>* | No |
ClinGen Ensembl |
|
|
rs751693788 CA305794288 |
333 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1336434338 CA404528067 |
334 | G>S | No |
ClinGen TOPMed |
|
|
CA404528043 rs1467499262 |
335 | A>T | No |
ClinGen gnomAD |
|
|
rs1310074760 CA404527988 |
337 | L>P | No |
ClinGen TOPMed |
|
|
rs1247179377 CA404527956 |
338 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1477304944 CA404527932 |
339 | R>C | No |
ClinGen gnomAD |
|
|
CA404527873 rs1279462984 |
341 | A>E | No |
ClinGen TOPMed |
|
|
CA9268622 rs141449041 |
341 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404527847 rs1454333643 |
342 | P>L | No |
ClinGen gnomAD |
|
|
CA404527831 rs1196431457 |
343 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA404527836 rs1237178969 |
343 | R>W | No |
ClinGen gnomAD |
|
|
rs1458909895 CA404527808 |
344 | A>P | No |
ClinGen gnomAD |
|
|
rs1273496885 CA404527775 |
345 | G>D | No |
ClinGen gnomAD |
|
|
rs1201900520 CA404527746 |
346 | P>R | No |
ClinGen TOPMed |
|
|
rs1270468737 CA404527720 |
347 | G>R | No |
ClinGen TOPMed |
|
|
CA404527717 rs1270468737 |
347 | G>S | No |
ClinGen TOPMed |
|
|
CA404527681 rs1199692940 |
348 | Q>R | No |
ClinGen gnomAD |
|
|
rs1342723962 CA404527640 |
349 | L>R | No |
ClinGen gnomAD |
|
|
rs1257695358 CA404527586 |
352 | A>T | No |
ClinGen gnomAD |
|
|
CA404527519 rs1376327525 |
354 | R>C | No |
ClinGen gnomAD |
|
|
rs1307326292 CA404527437 |
358 | E>Q | No |
ClinGen gnomAD |
|
|
rs1449336739 CA404527429 |
358 | E>V | No |
ClinGen gnomAD |
|
|
rs1178780974 CA404527410 |
359 | A>E | No |
ClinGen TOPMed |
|
|
rs1599742137 CA404527417 |
359 | A>T | No |
ClinGen Ensembl |
|
|
CA404527376 rs1413132324 |
362 | P>A | No |
ClinGen gnomAD |
|
|
rs1555719415 CA404527371 |
362 | P>Q | No |
ClinGen Ensembl |
|
|
CA404527296 rs1404893570 |
365 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA9268620 rs760787761 |
369 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1379206944 CA404527182 |
371 | R>S | No |
ClinGen gnomAD |
|
|
CA404527130 rs1377519675 |
372 | G>D | No |
ClinGen TOPMed |
|
|
CA404527065 rs1176361251 |
374 | G>V | No |
ClinGen gnomAD |
|
|
rs1233120670 CA404527042 |
375 | P>L | No |
ClinGen gnomAD |
|
|
CA404527061 rs1441113917 |
375 | P>T | No |
ClinGen gnomAD |
|
|
CA404526955 rs1440554116 |
378 | A>T | No |
ClinGen gnomAD |
|
|
CA404525607 rs1211571484 |
383 | V>L | No |
ClinGen gnomAD |
|
|
CA404525585 rs1174618405 |
385 | L>M | No |
ClinGen TOPMed |
|
|
CA305794273 rs973966747 |
385 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs773134508 CA9268619 |
386 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305794269 rs1023531182 |
388 | E>G | No |
ClinGen TOPMed |
|
|
CA305794263 rs866848885 |
390 | L>Q | No |
ClinGen Ensembl |
|
|
CA9268618 rs556008811 |
391 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 392 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748306057 CA305794254 |
394 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748306057 CA9268617 |
394 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404525444 rs1342693653 |
395 | A>V | No |
ClinGen gnomAD |
|
|
CA404525388 rs1425132553 |
400 | L>P | No |
ClinGen gnomAD |
|
|
rs1359219382 CA404525362 |
402 | R>C | No |
ClinGen gnomAD |
|
|
rs960581141 CA305794250 |
404 | F>S | No |
ClinGen TOPMed |
|
|
rs1030630132 CA305794247 |
405 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs999556364 CA305794245 |
408 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA404525284 rs1401948831 |
409 | A>V | No |
ClinGen gnomAD |
|
|
CA404525264 rs1471676012 |
413 | A>T | No |
ClinGen gnomAD |
|
|
CA305794234 rs1022457113 |
414 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1434243626 CA404525221 |
421 | A>T | No |
ClinGen TOPMed |
|
|
rs1188434681 CA404525218 |
421 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 422 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1487895439 CA404525209 |
423 | R>C | No |
ClinGen gnomAD |
|
|
CA9268613 rs749240512 |
423 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA404525206 rs749240512 |
423 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA404525207 rs1487895439 |
423 | R>S | No |
ClinGen gnomAD |
|
|
CA404525187 rs900656380 |
425 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs900656380 CA305794223 |
425 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA404525183 rs1447720217 |
425 | R>H | No |
ClinGen gnomAD |
|
|
rs1226865966 CA404525168 |
426 | V>E | No |
ClinGen gnomAD |
|
|
CA9268612 rs146624357 CA404525172 |
426 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs146624357 CA9268611 |
426 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA305794201 rs944953328 |
428 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1339014786 CA404525114 |
429 | S>P | No |
ClinGen gnomAD |
|
|
rs1432273494 CA404525051 |
431 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1325660389 CA404525068 |
431 | R>S | No |
ClinGen TOPMed |
|
|
rs1568329122 CA404525027 |
432 | Y>* | No |
ClinGen Ensembl |
|
|
CA404524900 rs1345321380 |
438 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1322434759 CA404524860 |
439 | L>H | No |
ClinGen gnomAD |
|
|
CA404524771 rs1165311469 |
443 | Y>C | No |
ClinGen gnomAD |
|
|
rs780541443 CA9268609 |
443 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA404524752 rs1232211700 |
444 | A>S | No |
ClinGen TOPMed |
|
|
CA404524734 rs1477377233 |
445 | R>C | No |
ClinGen gnomAD |
|
|
CA9268608 rs756989630 |
445 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1195828849 CA404524719 |
446 | L>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1195828849 CA404524718 |
446 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1219505233 CA404524670 |
448 | G>E | No |
ClinGen gnomAD |
|
|
CA404524680 CA404524678 rs1246237151 |
448 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1246237151 CA404524677 |
448 | G>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1274052773 CA404524659 |
449 | A>D | No |
ClinGen gnomAD |
|
|
CA404524663 rs1453492582 |
449 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1453492582 CA404524667 |
449 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1316506522 CA404524607 |
451 | E>D | No |
ClinGen gnomAD |
|
|
CA9268607 rs751164096 |
451 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1280626470 CA404524585 |
453 | A>T | No |
ClinGen gnomAD |
|
|
rs1369103496 CA404524564 |
454 | L>M | No |
ClinGen TOPMed |
|
|
CA404524512 rs1367556445 |
456 | A>E | No |
ClinGen gnomAD |
|
|
rs1273685063 CA404524495 |
457 | Q>* | No |
ClinGen gnomAD |
|
|
rs1599741275 CA404524494 |
457 | Q>P | No |
ClinGen Ensembl |
|
|
rs1599741275 CA404524491 |
457 | Q>R | No |
ClinGen Ensembl |
|
|
CA404524476 rs1433696134 |
458 | A>V | No |
ClinGen gnomAD |
|
|
rs765698882 CA404524365 |
463 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765698882 CA9268606 |
463 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs567354924 CA305794189 |
464 | A>T | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1398927140 CA404524300 |
466 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
CA404524297 rs1398927140 |
466 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA305794187 rs920718703 |
468 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA9268604 rs754418310 |
471 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9268605 rs142945276 |
471 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404524172 rs1172404085 |
472 | A>D | No |
ClinGen gnomAD |
|
|
CA404524177 rs1389517379 |
472 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA404524181 rs1389517379 |
472 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs916427987 CA305794170 |
473 | T>I | No |
ClinGen TOPMed |
|
|
CA404524079 rs1353604539 |
477 | Q>P | No |
ClinGen TOPMed |
|
|
CA404523898 rs1178074103 |
478 | A>E | No |
ClinGen gnomAD |
|
|
rs1483168048 CA404523878 |
480 | V>M | No |
ClinGen gnomAD |
|
|
CA404523855 rs1255714387 |
481 | T>I | No |
ClinGen TOPMed |
|
|
CA404523808 rs1456930964 |
484 | G>A | No |
ClinGen TOPMed |
|
|
rs775238275 CA9268593 |
486 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1239384352 CA404523752 |
487 | E>* | No |
ClinGen TOPMed |
|
|
rs1599739717 CA404523693 |
488 | L>R | No |
ClinGen Ensembl |
|
|
CA9268591 rs745776120 |
489 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9268592 rs745776120 |
489 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404523689 rs1349374802 |
489 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1238820200 CA404523661 |
490 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1238820200 CA404523667 |
490 | R>L | No |
ClinGen gnomAD |
|
|
CA305793732 rs994313694 |
491 | C>Y | No |
ClinGen Ensembl |
|
|
rs1350976454 CA404523605 |
492 | G>E | No |
ClinGen gnomAD |
|
|
CA404523583 rs1599739624 |
494 | R>C | No |
ClinGen Ensembl |
|
|
CA9268590 rs780819664 |
495 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs756653570 CA9268589 |
496 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756653570 CA404523514 |
496 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1599739575 CA404523482 |
497 | L>R | No |
ClinGen Ensembl |
|
|
rs998910716 CA305793698 |
497 | L>V | No |
ClinGen TOPMed |
|
|
CA404523449 rs1416501280 |
499 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
CA404523446 rs1416501280 |
499 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA404523407 rs1158066359 |
500 | R>Q | No |
ClinGen gnomAD |
|
|
CA9268587 rs147146430 |
500 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1417948159 CA404523385 |
501 | E>A | No |
ClinGen gnomAD |
|
|
CA9268585 rs754303924 |
502 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA305793651 rs867763654 |
504 | L>S | No |
ClinGen Ensembl |
|
|
rs780553165 CA404523290 |
504 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305793649 rs376764638 |
505 | A>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1235051248 CA404523237 |
506 | T>S | No |
ClinGen TOPMed |
|
|
rs750830353 CA9268582 |
508 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1263118441 CA404523184 |
508 | A>V | No |
ClinGen gnomAD |
|
|
rs767650947 CA9268581 |
510 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA305793636 rs866693220 |
510 | D>G | No |
ClinGen Ensembl |
|
|
CA404523071 rs1599739424 |
512 | Y>D | No |
ClinGen Ensembl |
|
|
CA404523002 rs1262108736 |
514 | K>Q | No |
ClinGen gnomAD |
|
|
rs1217313223 CA404522941 |
515 | L>F | No |
ClinGen gnomAD |
|
|
rs751842419 CA9268579 |
518 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs764343725 CA9268578 |
519 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs775318464 CA9268576 |
522 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404522609 rs1355938284 |
523 | E>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 524 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769569315 CA9268575 |
524 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1297580475 CA404522580 |
524 | T>P | No |
ClinGen gnomAD |
|
|
rs751312938 CA305793614 |
525 | L>P | No |
ClinGen Ensembl |
|
|
CA9268573 rs776373428 |
525 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404522283 rs1568327718 |
527 | Q>* | No |
ClinGen Ensembl |
|
|
rs746261972 CA9268547 |
528 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs1599738752 CA404522182 |
528 | V>G | No |
ClinGen Ensembl |
|
|
CA9268544 rs118046282 |
530 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9268545 rs757758768 |
530 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758412497 CA9268542 |
531 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9268541 rs199543113 |
531 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 535 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA305793418 rs553909686 |
536 | T>A | No |
ClinGen 1000Genomes |
|
|
CA9268540 rs765338551 |
536 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9268539 rs755196856 |
538 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1232616118 CA404521949 |
539 | C>R | No |
ClinGen gnomAD |
|
|
CA9268538 rs753626172 |
539 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1368943115 CA404521937 |
540 | E>Q | No |
ClinGen gnomAD |
|
|
rs1446473280 CA404521881 |
543 | P>T | No |
ClinGen TOPMed |
|
|
CA404521839 rs1393507557 |
545 | K>R | No |
ClinGen gnomAD |
|
|
CA9268534 rs760692523 |
546 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs187835114 CA9268535 |
546 | C>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs773223952 CA9268533 |
547 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs767155707 CA9268532 |
548 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1175003446 CA404521777 |
549 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1264236031 CA404521763 |
550 | E>G | No |
ClinGen gnomAD |
|
|
CA305793393 rs369073483 |
550 | E>K | No |
ClinGen ESP |
|
|
rs1439410121 CA404521687 |
554 | H>Q | No |
ClinGen gnomAD |
|
|
rs1251136140 CA404521643 |
556 | A>G | No |
ClinGen gnomAD |
|
|
CA404521611 rs1345776245 |
558 | L>I | No |
ClinGen gnomAD |
|
|
CA9268527 rs776931516 |
559 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9268528 COSM992249 rs577646736 |
559 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs771264060 CA404521557 |
560 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1278071291 CA404521521 |
561 | S>R | No |
ClinGen gnomAD |
|
|
CA9268525 rs747530731 |
562 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9268522 rs748268529 |
563 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9268523 rs202210695 |
563 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1377818782 CA404521431 |
564 | E>K | No |
ClinGen gnomAD |
|
|
CA9268521 rs779029568 |
565 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1223206 rs754024928 CA9268519 |
567 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA404521347 rs1156502651 |
568 | T>A | No |
ClinGen gnomAD |
|
|
rs1196764809 CA404521305 |
570 | I>T | No |
ClinGen TOPMed |
|
|
rs1462715240 CA404521312 |
570 | I>V | No |
ClinGen TOPMed |
|
|
rs1237555280 CA404521292 |
571 | H>Y | No |
ClinGen TOPMed |
|
|
rs750415640 CA404521212 |
573 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs750415640 | 573 | Y>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9268517 rs755922336 |
573 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs767600999 CA9268515 |
574 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs867265388 CA305815092 |
575 | W>* | No |
ClinGen Ensembl |
|
|
rs750289150 CA9268499 |
575 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA404561690 rs1212202723 |
576 | F>L | No |
ClinGen gnomAD |
|
|
CA404561682 rs1249583629 |
577 | P>A | No |
ClinGen TOPMed |
|
|
rs971202618 CA305815087 |
577 | P>L | No |
ClinGen TOPMed |
|
|
rs781117253 CA9268498 |
578 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA305815057 rs866018633 |
579 | E>D | No |
ClinGen Ensembl |
|
|
CA404561664 rs897868383 |
580 | L>P | No |
ClinGen gnomAD |
|
|
rs897868383 CA305815053 |
580 | L>Q | No |
ClinGen gnomAD |
|
|
CA305815052 rs1020438052 |
581 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs868539686 CA305815051 |
581 | G>V | No |
ClinGen Ensembl |
|
|
rs752325829 CA9268494 |
582 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1326653894 CA404561655 |
582 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1459660017 CA404561652 COSM1165227 |
583 | V>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1165423372 CA404561644 |
584 | F>V | No |
ClinGen gnomAD |
|
|
rs369153704 CA9268492 |
586 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1188283904 CA404561615 |
588 | R>* | No |
ClinGen gnomAD |
|
|
CA9268491 rs759167630 |
588 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA404561611 rs1309499388 |
589 | E>K | No |
ClinGen TOPMed |
|
|
CA9268490 rs773624511 |
591 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA9268489 VAR_061180 rs56209154 |
594 | R>C | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs543943755 CA9268488 |
594 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9268487 rs774870892 |
596 | S>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 597 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1198437499 CA404561549 |
598 | V>A | No |
ClinGen gnomAD |
|
|
rs371533350 CA9268486 |
601 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1275801527 CA404561535 |
601 | P>T | No |
ClinGen gnomAD |
|
|
rs1051135881 CA305815026 |
602 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA404561530 rs1051135881 |
602 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA9268485 rs367775756 |
602 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9268484 COSM438792 rs367775756 |
602 | R>Q | breast [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1438212983 CA404561518 |
604 | V>E | No |
ClinGen gnomAD |
|
|
CA404561508 rs746079470 |
606 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs746079470 CA9268482 |
606 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1172515155 CA404561501 |
607 | S>Y | No |
ClinGen gnomAD |
|
|
rs1037507250 CA404561485 |
609 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA404561488 rs1599735957 |
609 | F>S | No |
ClinGen Ensembl |
|
|
rs375317705 CA9268478 |
611 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9268479 rs751476764 |
611 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404561467 rs1599735914 |
613 | L>P | No |
ClinGen Ensembl |
|
|
CA9268476 rs752302056 |
615 | P>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 616 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9268474 rs574907372 |
617 | I>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs574907372 CA9268475 |
617 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA404561440 rs1205883265 |
618 | L>V | No |
ClinGen gnomAD |
|
|
CA404561435 rs1442385665 |
619 | A>S | No |
ClinGen gnomAD |
|
|
rs1599735857 CA404561424 |
621 | S>R | No |
ClinGen Ensembl |
|
|
CA404561402 rs1231462978 |
624 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs189935270 CA9268471 |
626 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA305814926 rs945103924 |
627 | P>L | No |
ClinGen Ensembl |
|
|
rs1599735811 CA404561376 |
628 | D>A | No |
ClinGen Ensembl |
|
|
rs774546316 CA9268469 |
629 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs762196872 CA9268470 |
629 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9268468 rs769253617 |
630 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404561361 rs1311081617 |
630 | P>L | No |
ClinGen gnomAD |
|
|
rs991754391 CA404561357 |
631 | A>G | No |
ClinGen TOPMed |
|
|
rs991754391 CA305814904 |
631 | A>V | No |
ClinGen TOPMed |
|
|
rs199838715 CA9268467 |
632 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA305814895 rs769924659 |
633 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769924659 CA9268465 |
633 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404561342 rs746110659 |
634 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA9268464 rs746110659 |
634 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1178164178 CA404561336 |
635 | A>V | No |
ClinGen gnomAD |
|
|
CA305814889 rs971451661 |
636 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA9268461 rs746863893 |
636 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746863893 CA305814879 |
636 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1447161313 CA404561327 |
637 | T>I | No |
ClinGen gnomAD |
|
|
CA404561324 rs1338587369 |
638 | L>F | No |
ClinGen gnomAD |
|
|
rs1208090297 CA404561319 |
639 | T>A | No |
ClinGen gnomAD |
|
|
CA404561315 rs1486397779 |
639 | T>I | No |
ClinGen gnomAD |
|
|
CA404561317 rs1486397779 |
639 | T>K | No |
ClinGen gnomAD |
|
|
rs1010414330 CA305814858 |
643 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA9268458 rs748031832 |
645 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs778407403 CA9268457 |
646 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778407403 CA305814847 |
646 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9268456 rs754435241 |
648 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA9268452 rs752015844 |
649 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA9268453 rs370836123 |
649 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs890076731 COSM1136123 CA305814816 |
651 | R>C | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs201122804 CA9268450 |
651 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA404561230 rs1424347602 |
653 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA404561233 rs1427009946 |
653 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA9268431 rs199734851 |
655 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1043531115 CA305814709 |
658 | E>K | No |
ClinGen gnomAD |
|
|
rs1167588017 CA404561177 |
659 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA404561173 rs1244285695 |
660 | Y>C | No |
ClinGen gnomAD |
|
|
CA404561167 rs1188810029 |
661 | M>L | No |
ClinGen TOPMed |
|
|
CA404561164 rs1373022985 |
661 | M>T | No |
ClinGen gnomAD |
|
|
rs762295295 CA305814708 |
663 | F>L | No |
ClinGen Ensembl |
|
|
rs529294277 CA9268430 |
663 | F>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9268429 rs267605316 |
664 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs766365980 CA9268428 |
665 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1188853494 CA404561119 |
667 | F>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 668 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773258849 CA404561102 |
670 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs773258849 CA9268426 |
670 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 673 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404561079 rs1164571432 |
673 | P>Q | No |
ClinGen TOPMed |
|
|
rs771932522 CA9268425 |
675 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs560022139 CA305814691 |
675 | M>T | No |
ClinGen Ensembl |
|
|
rs761634798 CA9268424 |
676 | Q>K | No |
ClinGen ExAC TOPMed |
|
|
rs1309392925 CA404561043 |
678 | F>C | No |
ClinGen gnomAD |
|
|
CA404561030 rs1599735058 |
680 | D>A | No |
ClinGen Ensembl |
|
|
rs768635872 CA404561029 |
680 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749216167 CA9268421 |
681 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 681 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404561027 rs749216167 |
681 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9268420 rs779616478 |
683 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA404561010 rs1442106235 |
683 | A>V | No |
ClinGen gnomAD |
|
|
CA305814643 rs866474978 |
684 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA305814602 rs892191297 |
688 | D>G | No |
ClinGen Ensembl |
|
|
rs745561621 CA9268418 |
688 | D>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 689 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1599734967 CA404560972 |
689 | A>G | No |
ClinGen Ensembl |
|
|
CA9268417 rs780672361 |
689 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756941364 CA305814586 |
690 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9268416 rs756941364 |
690 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9268415 rs753165279 |
691 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1222882618 CA404560961 |
692 | S>R | No |
ClinGen TOPMed |
|
|
CA9268414 rs566779173 |
693 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1284443749 CA404560942 |
694 | Y>* | No |
ClinGen TOPMed |
|
|
rs755610860 CA9268413 |
695 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9268411 rs369881144 |
698 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762008634 CA9268407 |
703 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA9268408 rs142057399 |
703 | Q>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs774196010 CA9268406 |
705 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1468861785 CA404560872 |
705 | A>V | No |
ClinGen TOPMed |
|
|
CA9268404 rs762887584 |
713 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1568325578 CA404560818 |
714 | I>V | No |
ClinGen Ensembl |
|
|
CA305814540 rs957389198 |
715 | F>I | No |
ClinGen TOPMed |
|
|
CA9268402 rs769380690 |
715 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA404560806 rs1032755329 |
716 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1032755329 CA305814518 |
716 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1175183908 CA404560802 |
716 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs745414515 CA9268401 |
718 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs920769173 CA305814514 |
718 | L>P | No |
ClinGen Ensembl |
|
|
COSM3959652 CA404560782 rs1179428643 |
719 | D>E | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA404560784 rs1362972127 |
719 | D>V | No |
ClinGen gnomAD |
|
|
rs371914904 CA9268387 |
723 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201283291 CA404560748 |
723 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM3283708 CA9268386 rs201283291 |
723 | R>Q | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA404560732 rs1568325343 |
726 | L>V | No |
ClinGen Ensembl |
|
|
rs897372363 CA305814380 |
728 | P>L | No |
ClinGen TOPMed |
|
|
rs1325485796 CA404560689 |
733 | L>R | No |
ClinGen gnomAD |
|
|
CA9268379 rs371843552 |
734 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371843552 CA9268380 |
734 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746119444 CA9268378 |
734 | R>L | No |
ClinGen ExAC TOPMed |
|
|
CA305814320 rs746119444 |
734 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
CA305814313 rs1022565502 |
735 | A>T | No |
ClinGen Ensembl |
|
|
rs1389052207 CA404560675 |
736 | I>M | No |
ClinGen gnomAD |
|
|
rs780451771 CA9268377 |
736 | I>T | No |
ClinGen ExAC TOPMed |
|
|
CA305814311 rs867011056 |
737 | E>D | No |
ClinGen gnomAD |
|
|
CA9268376 rs756645341 |
737 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1163903797 CA404560666 |
738 | E>G | No |
ClinGen gnomAD |
|
|
rs1055113453 CA404560667 |
738 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1055113453 CA305814305 |
738 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1490745092 CA404560658 |
739 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA404560651 rs1240549405 |
740 | Q>R | No |
ClinGen gnomAD |
|
|
CA404560625 rs1252712148 |
744 | V>G | No |
ClinGen gnomAD |
|
|
rs757275237 CA9268373 |
744 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868336136 CA305814297 |
746 | V>M | No |
ClinGen Ensembl |
|
|
CA9268370 rs758629072 |
747 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA305814267 rs905718533 |
747 | P>S | No |
ClinGen TOPMed |
|
|
CA305814245 CA404560602 rs1045506120 |
748 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1003206871 CA305814235 |
749 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs201285104 CA9268369 |
749 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1365487265 CA404560593 |
750 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1324893535 CA404560584 |
752 | L>V | No |
ClinGen gnomAD |
|
|
CA404560575 rs1438524785 |
753 | P>L | No |
ClinGen gnomAD |
|
|
CA305814227 rs867767160 |
754 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA404560571 rs867767160 |
754 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA404560552 rs1170593913 |
757 | V>D | No |
ClinGen gnomAD |
|
|
CA404560555 rs1417420561 |
757 | V>I | No |
ClinGen gnomAD |
|
|
CA305814219 rs1044727246 |
758 | H>N | No |
ClinGen TOPMed |
|
|
rs1450265431 CA404560547 |
758 | H>P | No |
ClinGen gnomAD |
|
|
rs1044727246 CA404560548 |
758 | H>Y | No |
ClinGen TOPMed |
|
|
rs1315582436 CA404560537 |
759 | S>F | No |
ClinGen TOPMed |
|
|
CA9268360 rs775719835 |
760 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA305813979 rs865778477 |
763 | A>S | No |
ClinGen Ensembl |
|
| TCGA novel | 763 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9268359 rs770135771 |
764 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs746380278 CA9268358 |
766 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA404559916 rs1312672913 |
766 | K>R | No |
ClinGen TOPMed |
|
|
CA9268357 rs757733502 |
767 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757733502 CA9268356 |
767 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305813963 rs747145692 |
771 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747145692 CA404559861 |
771 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1599733154 COSM1172594 CA404559865 |
771 | A>T | oesophagus [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs747145692 CA9268355 |
771 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9268353 rs370506034 |
772 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764955727 CA9268352 |
773 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9268349 rs377706363 |
773 | R>Q | No |
ClinGen ESP ExAC TOPMed |
|
|
CA404559826 rs1599733101 |
774 | D>A | No |
ClinGen Ensembl |
|
|
CA404559815 rs1002156484 |
775 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1002156484 CA305813953 |
775 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1313615416 CA404559800 |
776 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA9268348 rs753859387 |
776 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1313615416 CA404559799 |
776 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs766466907 CA9268347 |
777 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404559733 rs1290203403 |
779 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1599733055 CA404559742 |
779 | T>P | No |
ClinGen Ensembl |
|
|
CA9268345 rs750021078 |
780 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA9268343 rs761382253 |
782 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA404559688 rs1599733004 |
783 | S>P | No |
ClinGen Ensembl |
|
|
CA305813922 rs868344911 |
783 | S>Y | No |
ClinGen Ensembl |
|
|
rs774002840 CA9268342 |
784 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA404559559 rs1399376912 |
789 | R>C | No |
ClinGen gnomAD |
|
|
CA404559553 rs1414802865 |
789 | R>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1334531716 CA404559537 |
790 | S>R | No |
ClinGen TOPMed |
|
|
CA305813912 rs1025046819 |
791 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1025046819 CA404559536 |
791 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA9268340 rs770084092 |
792 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA404559495 rs1256132758 |
793 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA305813895 rs1014527793 |
793 | R>L | No |
ClinGen TOPMed |
|
|
rs1256132758 CA404559500 |
793 | R>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 794 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9268339 rs759981877 |
795 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA404559427 rs1268241693 |
796 | S>R | No |
ClinGen TOPMed |
|
|
CA9268338 rs776961594 |
798 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA9268337 rs566724491 |
799 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1330559629 CA404559348 |
800 | P>S | No |
ClinGen TOPMed |
|
|
rs539384460 CA305813873 |
801 | R>Q | No |
ClinGen 1000Genomes TOPMed |
|
|
CA9268336 rs546889324 |
801 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9268334 rs374340432 |
802 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9268333 rs374340432 |
802 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404559282 rs1468815305 |
803 | D>E | No |
ClinGen TOPMed |
|
|
CA9268332 rs779157603 |
803 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA404559276 rs1291443481 |
804 | E>K | No |
ClinGen gnomAD |
|
|
rs1397926610 CA404559171 |
809 | R>G | No |
ClinGen gnomAD |
|
|
rs755126096 CA9268331 |
809 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753742401 CA404559150 |
810 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753742401 CA9268330 |
810 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404559136 rs1174258901 |
811 | P>L | No |
ClinGen TOPMed |
|
|
CA404559130 rs1405258340 |
812 | R>W | No |
ClinGen TOPMed |
|
|
rs1391235483 CA404559099 |
813 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1391235483 CA404559102 |
813 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs756125499 CA9268328 |
816 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1351817581 CA404559024 |
817 | T>A | No |
ClinGen TOPMed |
|
|
rs1221144756 CA404559002 |
818 | Q>P | No |
ClinGen TOPMed |
|
|
CA404558917 rs1185615431 |
821 | P>Q | No |
ClinGen gnomAD |
|
|
CA9268324 rs750324054 |
821 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs939735127 CA305813814 |
823 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1040815750 CA305813818 |
823 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1334063940 CA404558873 |
824 | R>H | No |
ClinGen gnomAD |
|
|
rs57208996 CA9268323 VAR_061181 |
825 | P>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1247055912 CA404558846 |
826 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA404558847 rs1247055912 |
826 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA9268322 rs761344879 |
827 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA404558821 rs1294982717 |
827 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA9268321 rs750999746 |
830 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1321563744 CA404558746 |
831 | S>F | No |
ClinGen gnomAD |
|
|
rs1392906375 CA404558740 |
832 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs771222303 CA9268317 |
836 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9268318 rs777051699 |
836 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404558667 rs1375334912 |
837 | R>* | No |
ClinGen gnomAD |
|
|
CA9268315 rs773720098 |
838 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs530611301 CA9268316 |
838 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs373762155 CA9268313 |
840 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1467906391 CA404558604 |
842 | L>M | No |
ClinGen gnomAD |
|
|
CA9268312 rs138850805 |
843 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9268311 rs778843503 |
844 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA404558551 rs1211519991 |
844 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
CA305813767 rs988057493 |
844 | M>L | No |
ClinGen TOPMed |
|
|
rs1211519991 CA404558549 |
844 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
rs988057493 CA404558568 |
844 | M>V | No |
ClinGen TOPMed |
|
|
rs768987938 CA9268310 |
845 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs780006940 CA9268308 |
847 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780006940 CA9268309 |
847 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404558466 rs1298691412 |
850 | A>V | No |
ClinGen gnomAD |
|
|
CA404558445 rs750413610 |
852 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA404558440 rs750413610 |
852 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA9268306 rs750413610 |
852 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA404558379 rs1329753978 |
854 | T>S | No |
ClinGen gnomAD |
|
|
rs781227149 CA9268305 |
855 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs372540608 CA9268304 |
858 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA404558273 rs1568324088 |
860 | L>P | No |
ClinGen Ensembl |
|
|
CA9268301 rs758054481 |
868 | W>* | No |
ClinGen ExAC TOPMed |
|
|
rs752292289 CA305813734 |
869 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA404558087 rs1453449008 |
870 | R>C | No |
ClinGen gnomAD |
|
| TCGA novel | 870 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766752674 CA9268299 |
872 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766752674 CA404558052 |
872 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9268298 rs760988718 |
873 | D>A | No |
ClinGen ExAC |
|
|
CA9268297 rs773419216 |
874 | Q>* | No |
ClinGen ExAC |
|
|
CA305813727 rs773419216 |
874 | Q>E | No |
ClinGen ExAC |
|
|
rs768119646 CA9268296 |
875 | P>L | No |
ClinGen ExAC |
|
|
rs866006271 CA305813717 |
875 | P>T | No |
ClinGen Ensembl |
|
|
CA9268294 rs774492792 |
877 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs547835084 CA9268295 |
877 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA305813700 rs1031507809 |
879 | N>D | No |
ClinGen TOPMed |
|
|
CA404557918 rs1203098127 |
879 | N>I | No |
ClinGen gnomAD |
|
|
CA9268293 rs768797116 |
881 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA404557798 rs749539937 |
884 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA9268292 rs749539937 |
884 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs770107622 CA9268290 |
885 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs904467535 CA305813689 |
886 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA305813685 rs528100081 |
887 | P>S | No |
ClinGen 1000Genomes gnomAD |
|
|
CA9268289 rs745721368 |
888 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs757288737 CA9268287 |
889 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA404557605 rs1483137324 |
891 | L>S | No |
ClinGen TOPMed |
|
|
rs763160868 CA9268274 |
894 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1471878926 CA404557554 |
895 | Q>* | No |
ClinGen gnomAD |
|
|
CA305813585 rs868767422 |
896 | C>F | No |
ClinGen Ensembl |
|
|
rs1239399334 CA404557524 |
896 | C>R | No |
ClinGen gnomAD |
|
|
CA404557504 rs1188458733 |
897 | E>K | No |
ClinGen gnomAD |
|
|
CA404557442 rs1246508570 |
898 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs192521892 CA305813582 |
899 | A>V | No |
ClinGen 1000Genomes |
|
|
rs1273176540 CA404557351 |
901 | L>V | No |
ClinGen gnomAD |
|
|
rs375530302 CA9268272 |
902 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs866103921 CA305813579 |
902 | R>S | No |
ClinGen Ensembl |
|
|
CA9268270 rs746076040 CA305813564 |
903 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1285483565 CA404557320 |
903 | E>Q | No |
ClinGen gnomAD |
|
|
rs947456945 CA305813561 |
904 | E>K | No |
ClinGen Ensembl |
|
|
rs1318222087 CA404557263 |
905 | Q>* | No |
ClinGen gnomAD |
|
|
rs776491854 CA9268269 |
905 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA404557243 rs1322854784 |
906 | K>* | No |
ClinGen gnomAD |
|
|
rs1322854784 CA404557245 |
906 | K>E | No |
ClinGen gnomAD |
|
|
rs770578735 CA9268268 |
906 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA305813546 rs996772688 |
909 | S>Y | No |
ClinGen TOPMed |
|
|
CA9268265 rs777648218 |
910 | R>G | No |
ClinGen ExAC |
|
|
rs1388620349 CA404557141 |
910 | R>H | No |
ClinGen gnomAD |
|
|
rs1450538174 CA404557110 |
911 | L>R | No |
ClinGen gnomAD |
|
|
CA404557132 rs1190890320 |
911 | L>V | No |
ClinGen gnomAD |
|
|
rs1445094860 CA404557091 |
912 | V>A | No |
ClinGen gnomAD |
|
|
rs1599731448 CA404557075 |
913 | E>K | No |
ClinGen Ensembl |
|
|
CA9268264 rs368005570 |
914 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs866216454 CA305813534 |
916 | S>I | No |
ClinGen Ensembl |
|
|
rs1019315176 CA305813533 |
917 | T>N | No |
ClinGen TOPMed |
|
|
rs866920343 CA305813529 |
918 | Q>K | No |
ClinGen Ensembl |
|
|
CA305813527 rs988759817 |
918 | Q>R | No |
ClinGen Ensembl |
|
|
rs1291332322 CA404556887 |
920 | R>W | No |
ClinGen gnomAD |
|
|
rs1209918727 CA404556837 CA404556830 |
922 | L>F | No |
ClinGen gnomAD |
|
|
rs201042593 CA9268262 |
923 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA404556746 rs753351235 |
925 | Q>H | No |
ClinGen gnomAD |
|
|
CA404556756 rs1230298297 |
925 | Q>R | No |
ClinGen gnomAD |
|
|
CA9268260 rs367730527 |
926 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1434137033 CA404556712 |
927 | E>V | No |
ClinGen gnomAD |
|
|
CA404556676 rs1429253157 |
930 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA404556672 rs905384362 |
930 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA305813523 rs905384362 |
930 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA404556674 rs1429253157 |
930 | R>W | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 931 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs969255243 CA305813518 |
931 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1167074806 CA404556635 |
933 | L>P | No |
ClinGen TOPMed |
|
|
CA404556630 rs1450362728 |
934 | Q>* | No |
ClinGen gnomAD |
|
|
rs1450362728 CA404556632 |
934 | Q>K | No |
ClinGen gnomAD |
|
|
rs1479252571 CA404556592 |
936 | L>P | No |
ClinGen gnomAD |
|
|
CA404556578 rs1198940395 |
937 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1247871731 CA404556586 |
937 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 938 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9268256 rs554364995 |
939 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404556554 rs1264246916 |
939 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA9268255 rs547899579 |
939 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404556552 rs1264246916 |
939 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs763536973 CA305813504 |
940 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763536973 CA9268254 |
940 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371247954 CA404556532 |
941 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371247954 CA9268253 |
941 | R>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs377759857 CA404556528 |
941 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377759857 CA9268252 |
941 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404556498 rs1221619813 |
943 | G>E | No |
ClinGen TOPMed |
|
|
rs1369621624 CA404556507 |
943 | G>R | No |
ClinGen gnomAD |
|
|
CA404556439 rs1458165692 |
944 | S>N | No |
ClinGen gnomAD |
|
|
CA404556410 rs1253245264 |
946 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs367885924 CA9268240 |
946 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 951 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9268239 rs752025008 |
952 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA404556286 rs778275984 |
954 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA9268238 rs778275984 |
954 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs1320321080 CA404556261 |
955 | S>R | No |
ClinGen gnomAD |
|
|
rs758981220 CA9268237 |
958 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 958 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9268236 rs373390636 |
959 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404556097 rs1478873274 |
964 | L>V | No |
ClinGen gnomAD |
|
|
rs762939622 CA9268207 |
965 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA404556026 rs1348129339 |
965 | E>K | No |
ClinGen TOPMed |
|
|
CA404555994 rs1297198790 |
966 | H>L | No |
ClinGen gnomAD |
|
|
rs1457372422 CA404555983 |
967 | R>G | No |
ClinGen TOPMed |
|
|
rs774865074 CA9268206 COSM3422504 |
967 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs769292723 CA9268205 |
969 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9268204 rs745541793 |
970 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA305813195 rs200107803 |
971 | M>I | No |
ClinGen 1000Genomes |
|
|
CA305813200 rs973740719 |
971 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs776386482 CA9268203 |
971 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA9268201 rs748572275 |
972 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs770680192 CA9268202 |
972 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs755504855 CA9268200 |
973 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA9268199 rs755504855 |
973 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA9268198 rs749738379 |
975 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA9268196 rs756145570 |
975 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9268197 rs780018062 |
975 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1490545470 CA404555789 |
976 | A>G | No |
ClinGen gnomAD |
|
|
rs1319549276 CA404555759 |
978 | L>M | No |
ClinGen TOPMed |
|
|
CA305813183 rs1022306997 |
979 | R>T | No |
ClinGen Ensembl |
|
|
rs1324330950 CA404555728 |
980 | D>A | No |
ClinGen gnomAD |
|
|
rs532031989 CA9268194 |
980 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA305813179 rs1011750099 |
981 | A>T | No |
ClinGen gnomAD |
|
|
rs375151160 CA9268193 |
984 | S>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs375151160 CA305813177 |
984 | S>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA404555618 rs1568322464 |
988 | S>P | No |
ClinGen Ensembl |
|
|
CA9268192 rs751374445 |
989 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA9268191 rs763879747 |
990 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs762814984 CA9268190 |
990 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA404555572 rs1407539732 |
991 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA404555571 rs775451877 |
992 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764688127 CA404555569 |
992 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9268188 rs764688127 |
992 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1391138 CA9268189 rs775451877 |
992 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA9268187 rs759161243 |
993 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404555565 rs759161243 |
993 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404555561 rs1480734593 |
994 | S>A | No |
ClinGen gnomAD |
|
| TCGA novel | 994 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 995 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA305813163 rs1023270011 |
997 | Q>E | No |
ClinGen TOPMed |
|
|
CA404555503 rs1247732541 CA404555501 |
997 | Q>H | No |
ClinGen TOPMed |
|
|
rs201866014 CA9268185 |
998 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1599729065 CA404555499 |
998 | P>T | No |
ClinGen Ensembl |
|
|
CA404555463 rs1180115362 |
1000 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs368141019 CA9268184 |
1000 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9268183 rs368141019 |
1000 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1180115362 CA404555466 |
1000 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA404555383 rs1200222673 |
1005 | C>* | No |
ClinGen gnomAD |
|
|
CA404555389 rs1165608015 |
1005 | C>Y | No |
ClinGen TOPMed |
|
|
CA404555375 rs1343366443 |
1006 | L>F | No |
ClinGen gnomAD |
|
|
rs1031624774 CA305813152 |
1007 | N>I | No |
ClinGen TOPMed |
|
|
CA9268181 rs374820624 |
1008 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs780650141 CA9268180 |
1009 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1009 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404555303 rs1287150082 |
1011 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA9268179 rs770263506 |
1011 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA404555301 rs1287150082 |
1011 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs746001297 CA9268178 |
1012 | T>G | No |
ClinGen ExAC gnomAD |
No associated diseases with Q86YV0
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| cell cortex | The region of a cell that lies just beneath the plasma membrane and often, but not always, contains a network of actin filaments and associated proteins. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytoplasmic side of membrane | The side of a membrane that faces the cytoplasm. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| GTPase activator activity | Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP. |
| identical protein binding | Binding to an identical protein or proteins. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| negative regulation of Ras protein signal transduction | Any process that stops, prevents, or reduces the frequency, rate or extent of Ras protein signal transduction. |
| positive regulation of NK T cell proliferation | Any process that activates or increases the frequency, rate or extent of natural killer T cell proliferation. |
| regulation of GTPase activity | Any process that modulates the rate of GTP hydrolysis by a GTPase. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P21359 | NF1 | Neurofibromin | Homo sapiens (Human) | PR |
| O95294 | RASAL1 | RasGAP-activating-like protein 1 | Homo sapiens (Human) | PR |
| Q5VWQ8 | DAB2IP | Disabled homolog 2-interacting protein | Homo sapiens (Human) | PR |
| Q3UHC7 | Dab2ip | Disabled homolog 2-interacting protein | Mus musculus (Mouse) | PR |
| Q6P730 | Dab2ip | Disabled homolog 2-interacting protein | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDPPSPSRTS | QTQPTATSPL | TSYRWHTGGG | GEKAAGGFRW | GRFAGWGRAL | SHQEPMVSTQ |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PAPRSIFRRV | LSAPPKESRT | SRLRLSKALW | GRHKNPPPEP | DPEPEQEAPE | LEPEPELEPP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| TPQIPEAPTP | NVPVWDIGGF | TLLDGKLVLL | GGEEEGPRRP | RVGSASSEGS | IHVAMGNFRD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PDRMPGKTEP | ETAGPNQVHN | VRGLLKRLKE | KKKARLEPRD | GPPSALGSRE | SLATLSELDL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GAERDVRIWP | LHPSLLGEPH | CFQVTWTGGS | RCFSCRSAAE | RDRWIEDLRR | QFQPTQDNVE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| REETWLSVWV | HEAKGLPRAA | AGAPGVRAEL | WLDGALLART | APRAGPGQLF | WAERFHFEAL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PPARRLSLRL | RGLGPGSAVL | GRVALALEEL | DAPRAPAAGL | ERWFPLLGAP | AGAALRARIR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ARRLRVLPSE | RYKELAEFLT | FHYARLCGAL | EPALPAQAKE | ELAAAMVRVL | RATGRAQALV |
| 490 | 500 | 510 | 520 | 530 | 540 |
| TDLGTAELAR | CGGREALLFR | ENTLATKAID | EYMKLVAQDY | LQETLGQVVR | RLCASTEDCE |
| 550 | 560 | 570 | 580 | 590 | 600 |
| VDPSKCPASE | LPEHQARLRN | SCEEVFETII | HSYDWFPAEL | GIVFSSWREA | CKERGSEVLG |
| 610 | 620 | 630 | 640 | 650 | 660 |
| PRLVCASLFL | RLLCPAILAP | SLFGLAPDHP | APGPARTLTL | IAKVIQNLAN | RAPFGEKEAY |
| 670 | 680 | 690 | 700 | 710 | 720 |
| MGFMNSFLEE | HGPAMQCFLD | QVAMVDVDAA | PSGYQGSGDL | ALQLAVLHAQ | LCTIFAELDQ |
| 730 | 740 | 750 | 760 | 770 | 780 |
| TTRDTLEPLP | TILRAIEEGQ | PVLVSVPMRL | PLPPAQVHSS | LSAGEKPGFL | APRDLPKHTP |
| 790 | 800 | 810 | 820 | 830 | 840 |
| LISKSQSLRS | VRRSESWARP | RPDEERPLRR | PRPVQRTQSV | PVRRPARRRQ | SAGPWPRPKG |
| 850 | 860 | 870 | 880 | 890 | 900 |
| SLSMGPAPRA | RPWTRDSASL | PRKPSVPWQR | QMDQPQDRNQ | ALGTHRPVNK | LAELQCEVAA |
| 910 | 920 | 930 | 940 | 950 | 960 |
| LREEQKVLSR | LVESLSTQIR | ALTEQQEQLR | GQLQDLDSRL | RAGSSEFDSE | HNLTSNEGHS |
| 970 | 980 | 990 | 1000 | 1010 | |
| LKNLEHRLNE | MERTQAQLRD | AVQSLQLSPR | TRGSWSQPQP | LKAPCLNGDT | T |