O60503
Gene name |
ADCY9 (KIAA0520) |
Protein name |
Adenylate cyclase type 9 |
Names |
ATP pyrophosphate-lyase 9, Adenylate cyclase type IX, ACIX, Adenylyl cyclase 9, AC9 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:115 |
EC number |
4.6.1.1: Phosphorus-oxygen lyases |
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 O60503
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O60503-F1 | Predicted | AlphaFoldDB |
1186 variants for O60503
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs2056001007 RCV001262985 |
1033 | R>T | Neurodevelopmental disorder [ClinVar] | Yes |
ClinVar dbSNP |
|
CA7871911 rs56119296 |
2 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7871912 rs752627556 |
2 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs752627556 CA7871913 |
2 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA7871910 rs754433408 |
3 | S>F | No |
ClinGen ExAC |
|
|
rs765879734 CA7871908 |
4 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA7871907 rs762248020 |
4 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7871909 rs765879734 |
4 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs764512255 CA7871905 |
5 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs776121171 CA7871903 |
6 | H>N | No |
ClinGen ExAC |
|
|
CA277038079 rs568010470 |
6 | H>P | No |
ClinGen 1000Genomes |
|
|
CA394579820 rs1567155029 |
7 | Q>E | No |
ClinGen Ensembl |
|
|
CA7871902 rs772304800 |
7 | Q>H | No |
ClinGen ExAC |
|
|
rs1046007898 CA277038071 |
8 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA394579796 rs1379627490 |
11 | H>D | No |
ClinGen gnomAD |
|
|
CA7871901 rs759652644 |
12 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA394579774 rs1212732397 CA394579775 |
13 | H>Q | No |
ClinGen TOPMed |
|
|
rs1445807017 CA394579769 |
14 | S>N | No |
ClinGen gnomAD |
|
|
rs1331499494 CA394579761 |
15 | T>S | No |
ClinGen gnomAD |
|
|
rs1597238032 CA394579748 |
17 | V>G | No |
ClinGen Ensembl |
|
|
CA394579733 rs771001767 |
19 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA7871899 rs771001767 |
19 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA7871898 rs749514225 |
20 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA394579716 rs769603116 |
22 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7871896 rs769603116 |
22 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394579689 rs1457391886 |
25 | S>R | No |
ClinGen gnomAD |
|
|
CA7871894 rs781065829 |
26 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA394579680 rs1224065891 |
27 | S>G | No |
ClinGen gnomAD |
|
|
CA7871893 rs754488479 |
28 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA277038030 rs866281724 |
29 | R>C | No |
ClinGen Ensembl |
|
|
rs974633473 CA277038024 |
29 | R>P | No |
ClinGen Ensembl |
|
|
rs779598125 CA7871891 |
32 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs750058500 CA7871889 |
35 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 36 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1367923371 CA394579612 |
37 | L>P | No |
ClinGen gnomAD |
|
|
rs1294765504 CA394579608 |
38 | S>A | No |
ClinGen gnomAD |
|
|
CA394579605 rs1436842993 |
38 | S>F | No |
ClinGen gnomAD |
|
|
rs761074346 CA7871887 |
39 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7871885 rs768073914 |
40 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs753290289 CA7871886 |
40 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 40 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370117453 CA7871884 |
41 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7871882 rs771039334 |
42 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394579585 rs771039334 |
42 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394579574 rs1192986261 |
43 | P>R | No |
ClinGen gnomAD |
|
|
rs1378608182 CA394579577 |
43 | P>S | No |
ClinGen gnomAD |
|
|
rs763126371 CA7871881 |
44 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1439793065 CA394579571 |
44 | K>T | No |
ClinGen gnomAD |
|
|
CA394579561 rs1219599466 |
45 | H>Q | No |
ClinGen gnomAD |
|
|
rs979015601 CA277037979 |
45 | H>R | No |
ClinGen Ensembl |
|
|
rs773462672 CA7871880 |
46 | C>R | No |
ClinGen ExAC |
|
|
rs1019989038 CA277037973 |
49 | S>G | No |
ClinGen TOPMed |
|
|
CA394579515 rs1279721401 |
52 | S>P | No |
ClinGen TOPMed |
|
|
rs776562561 CA7871877 |
54 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA277037955 rs3730095 |
56 | S>R | No |
ClinGen TOPMed |
|
|
rs768638075 CA7871876 |
58 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394579473 rs1219284190 |
58 | G>R | No |
ClinGen gnomAD |
|
|
rs1219284190 CA394579474 |
58 | G>W | No |
ClinGen gnomAD |
|
|
rs1213690327 CA394579463 |
59 | D>E | No |
ClinGen TOPMed |
|
|
CA7871874 rs746941841 |
59 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757900535 CA7871873 |
61 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA394579455 CA394579456 rs1401387089 |
61 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs757900535 CA7871872 |
61 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA277037924 rs1027269999 |
62 | G>D | No |
ClinGen TOPMed |
|
|
CA7871869 rs147045155 |
63 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141403076 CA7871868 |
64 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141403076 CA277037912 |
64 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 66 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1189707806 CA394579430 |
66 | R>P | No |
ClinGen gnomAD |
|
|
rs1478918264 CA394579424 |
67 | V>A | No |
ClinGen gnomAD |
|
|
rs1435229101 CA394579410 |
70 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA394579404 rs1215592437 |
71 | G>S | No |
ClinGen gnomAD |
|
|
CA7871867 rs767980128 |
71 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs755610495 CA7871866 |
72 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs543810324 CA7871865 |
72 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs755610495 CA394579399 |
72 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA277037887 rs3730096 |
73 | L>M | No |
ClinGen Ensembl |
|
|
rs766419542 CA7871864 |
74 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1298480719 CA394579388 |
74 | R>L | No |
ClinGen gnomAD |
|
|
CA7871863 rs747861796 |
75 | R>S | No |
ClinGen ExAC |
|
|
rs773308825 CA7871860 |
77 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1175396512 CA394579369 |
77 | K>T | No |
ClinGen TOPMed |
|
|
rs765384924 CA7871859 |
78 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7871858 rs762008889 |
78 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA7871857 rs776473094 |
79 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA394579318 rs1466953011 |
82 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 82 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7871856 rs768406341 |
82 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA394579289 rs1174368720 |
84 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA394579271 rs1467421242 |
85 | R>G | No |
ClinGen gnomAD |
|
|
rs374090597 CA277037829 |
86 | A>V | No |
ClinGen ESP TOPMed |
|
|
CA7871854 rs775447524 |
87 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA394579239 rs1278412037 |
87 | S>T | No |
ClinGen TOPMed |
|
|
CA394579141 rs1193160523 |
92 | D>N | No |
ClinGen gnomAD |
|
|
CA394579121 rs1476734982 |
93 | P>T | No |
ClinGen gnomAD |
|
|
rs139324997 CA7871853 |
94 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7871852 rs139324997 |
94 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA277037817 rs575082493 |
98 | V>A | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA7871850 rs757033157 |
99 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748944336 CA7871849 |
100 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs755373968 CA7871847 |
102 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1275618342 CA394578948 |
103 | A>D | No |
ClinGen TOPMed |
|
|
rs1436273390 CA394578941 |
104 | C>S | No |
ClinGen TOPMed |
|
| TCGA novel | 104 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394578927 rs1334856634 |
106 | E>D | No |
ClinGen gnomAD |
|
|
rs756054360 CA277037804 |
106 | E>G | No |
ClinGen Ensembl |
|
|
CA394578932 rs1379046528 |
106 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs766841271 CA7871845 |
107 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1401077456 CA394578922 |
107 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA394578923 rs1401077456 |
107 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs766841271 CA394578925 |
107 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1170239251 CA394578919 |
108 | C>R | No |
ClinGen gnomAD |
|
|
CA394578907 rs1220928449 |
109 | F>C | No |
ClinGen Ensembl |
|
|
CA394578887 rs1398415416 |
112 | T>S | No |
ClinGen TOPMed |
|
|
CA394578882 rs1370031476 |
113 | Q>E | No |
ClinGen gnomAD |
|
|
rs1327708133 CA394578873 |
114 | R>H | No |
ClinGen TOPMed |
|
|
CA7871843 rs750572939 |
114 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA7871841 rs762058083 |
115 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762058083 CA7871842 |
115 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394578867 rs1597237616 |
116 | F>L | No |
ClinGen Ensembl |
|
|
CA394578865 rs1597237616 |
116 | F>V | No |
ClinGen Ensembl |
|
|
rs376968312 CA277037783 |
120 | L>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs776808117 CA394578828 |
121 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763895687 CA7871839 |
123 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs763895687 CA394578818 |
123 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs775297017 CA7871837 |
124 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775297017 CA394578812 |
124 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs892102546 CA277037763 |
125 | F>L | No |
ClinGen Ensembl |
|
|
CA394578798 rs1211895946 |
126 | A>V | No |
ClinGen TOPMed |
|
|
CA394578793 rs1313597002 |
127 | C>S | No |
ClinGen gnomAD |
|
|
rs770534868 CA7871833 |
128 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA394578775 rs1597237557 |
130 | W>G | No |
ClinGen Ensembl |
|
|
CA277037755 rs936383709 |
131 | S>G | No |
ClinGen Ensembl |
|
|
rs1393106457 CA394578755 |
132 | I>M | No |
ClinGen gnomAD |
|
|
rs777520727 CA7871831 |
133 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394578736 rs1383108014 |
135 | A>E | No |
ClinGen gnomAD |
|
|
rs768904794 CA7871830 |
135 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs780267565 CA7871828 |
137 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200248947 CA7871827 |
138 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200248947 CA394578721 |
138 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394578707 rs750860680 CA394578708 |
139 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750363911 CA277037716 |
140 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA394578697 rs1488363767 |
141 | R>I | No |
ClinGen gnomAD |
|
|
CA7871823 rs754087926 |
142 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA394578690 rs1219505152 |
143 | I>L | No |
ClinGen gnomAD |
|
|
CA7871821 rs760401817 |
144 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA277037688 rs780969833 |
145 | M>V | No |
ClinGen TOPMed |
|
|
CA7871819 rs767211997 |
146 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA7871817 rs774411935 |
147 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394578659 rs1325217251 |
148 | P>A | No |
ClinGen TOPMed |
|
|
CA394578655 rs1363549446 |
148 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 149 | A>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 149 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA277037669 rs988893119 |
151 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
rs3730098 CA7871814 |
153 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394578627 rs3730098 |
153 | L>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394578609 rs1486206946 |
156 | C>Y | No |
ClinGen TOPMed |
|
|
rs1479243093 CA394578601 |
157 | V>A | No |
ClinGen gnomAD |
|
|
rs769541796 CA7871813 |
157 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 158 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1196255044 CA394578584 |
160 | F>L | No |
ClinGen gnomAD |
|
|
rs1203860717 CA394578554 |
164 | F>C | No |
ClinGen gnomAD |
|
|
rs559120093 CA7871809 |
164 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs757336207 CA7871808 |
166 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1263678822 CA394578541 |
166 | K>R | No |
ClinGen TOPMed |
|
|
rs777817807 CA7871805 |
167 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA394578537 rs753858086 |
167 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs944073479 CA277037622 |
168 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs376711313 CA7871802 |
169 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs376711313 CA7871803 |
169 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1339557327 CA394578524 |
169 | A>V | No |
ClinGen gnomAD |
|
|
rs751581722 CA394578523 |
170 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394578521 rs1475963820 |
170 | R>Q | No |
ClinGen TOPMed |
|
|
rs751581722 CA7871800 |
170 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs570699984 CA7871799 |
171 | H>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA394578515 rs1162302294 |
171 | H>L | No |
ClinGen TOPMed |
|
|
CA394578499 rs1453783151 |
173 | A>V | No |
ClinGen TOPMed |
|
|
rs142649683 CA7871796 |
175 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394578479 rs1478370114 |
176 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs746163052 CA7871792 |
178 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs746163052 CA7871793 |
178 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs774854033 CA394578468 |
179 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA394578467 rs1313846833 |
179 | L>H | No |
ClinGen TOPMed |
|
|
rs774854033 CA7871791 |
179 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1260274417 CA394578457 |
181 | L>V | No |
ClinGen gnomAD |
|
|
rs1219412837 CA394578453 |
182 | L>M | No |
ClinGen gnomAD |
|
|
CA394578444 rs1450203334 |
183 | V>E | No |
ClinGen gnomAD |
|
|
CA394578445 rs1450203334 |
183 | V>G | No |
ClinGen gnomAD |
|
|
rs1268181203 CA394578446 |
183 | V>L | No |
ClinGen gnomAD |
|
|
rs777948652 CA7871788 |
185 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA7871787 rs190107269 |
186 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA394578418 rs1170954189 |
188 | L>M | No |
ClinGen gnomAD |
|
|
CA7871786 rs370902956 |
190 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA394578404 rs1419334163 |
190 | A>V | No |
ClinGen gnomAD |
|
|
CA394578399 rs1166486146 |
191 | Q>R | No |
ClinGen gnomAD |
|
|
rs72556392 CA394578388 |
192 | F>L | No |
ClinGen TOPMed |
|
|
CA7871785 rs781234631 |
195 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs548157811 CA7871784 |
196 | T>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs548157811 CA277037538 |
196 | T>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs374051508 CA7871783 |
197 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394578338 rs1270666820 |
201 | R>C | No |
ClinGen gnomAD |
|
|
CA7871780 rs750360400 |
201 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs761188131 CA7871779 |
202 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761188131 CA7871778 |
202 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1356724708 CA394578335 |
202 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7871777 rs143296765 |
203 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA394578323 rs1445635187 |
204 | S>G | No |
ClinGen gnomAD |
|
|
rs565323545 CA277037502 |
205 | S>C | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs147707598 CA7871776 |
206 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA277037475 rs377300070 |
207 | L>I | No |
ClinGen ESP TOPMed |
|
|
CA394578295 rs1174760230 |
208 | T>K | No |
ClinGen TOPMed |
|
|
CA394578294 rs1174760230 |
208 | T>M | No |
ClinGen TOPMed |
|
|
rs774765745 CA7871775 |
209 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394578292 rs1159680210 |
209 | A>T | No |
ClinGen gnomAD |
|
|
CA7871774 rs774765745 |
209 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7871773 rs771254861 |
210 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA7871772 rs749847952 |
210 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA394578289 rs771254861 |
210 | T>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 211 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394578275 rs1441874703 |
212 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA7871770 rs769951663 |
213 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA7871767 rs755314870 |
215 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7871768 rs372461075 |
215 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs372461075 CA394578263 |
215 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs780039488 CA7871765 |
217 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7871764 rs750404297 |
217 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs1335201294 CA394578239 |
218 | L>F | No |
ClinGen TOPMed |
|
|
rs1355729315 CA394578242 |
218 | L>S | No |
ClinGen gnomAD |
|
|
CA394578233 rs1309416274 |
219 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 221 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1222731167 CA394578218 |
222 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA7871761 rs532077124 |
226 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA394578177 rs1436683498 |
227 | C>F | No |
ClinGen gnomAD |
|
|
CA277037359 rs892137966 |
228 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 230 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA277037357 rs201211738 |
230 | V>M | No |
ClinGen ESP gnomAD |
|
| TCGA novel | 231 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 232 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1362978468 CA394578138 |
233 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1400222331 CA394578132 |
234 | L>F | No |
ClinGen gnomAD |
|
|
CA7871759 rs61731442 |
236 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760361419 CA7871758 |
236 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs766756605 COSM3691002 CA7871756 |
237 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 238 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1489121445 CA394578107 |
238 | M>T | No |
ClinGen gnomAD |
|
|
COSM249236 rs763267565 CA7871755 |
239 | H>Y | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA277037335 rs1052767711 |
241 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1344439158 CA394578080 |
242 | L>S | No |
ClinGen gnomAD |
|
|
rs1433462978 CA394578059 |
245 | S>N | No |
ClinGen TOPMed |
|
|
rs1175766949 CA394578052 |
246 | L>S | No |
ClinGen TOPMed |
|
|
rs776612058 CA7871750 |
247 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7871751 rs762374861 |
247 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394578038 rs1296621515 |
248 | L>R | No |
ClinGen TOPMed |
|
|
CA394578028 rs1597237062 |
250 | V>G | No |
ClinGen Ensembl |
|
|
rs768831553 CA7871749 |
251 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 253 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1343569759 CA394577577 |
254 | V>I | No |
ClinGen gnomAD |
|
|
rs1178319547 CA394577570 |
255 | L>I | No |
ClinGen gnomAD |
|
|
rs200048380 CA277037297 |
257 | E>* | No |
ClinGen Ensembl |
|
|
rs747253577 CA277037292 |
258 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747253577 CA7871748 |
258 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368901949 CA394577528 |
261 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs368901949 CA7871747 |
261 | Y>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1174500970 CA394577515 |
263 | F>V | No |
ClinGen gnomAD |
|
|
CA394577506 rs1478684312 |
264 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1478684312 CA394577505 |
264 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA277037288 rs72556391 |
267 | A>S | No |
ClinGen Ensembl |
|
|
rs932826873 CA277037281 |
270 | P>L | No |
ClinGen TOPMed |
|
|
CA394577464 rs932826873 |
270 | P>R | No |
ClinGen TOPMed |
|
|
CA7871745 rs745590145 |
270 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394577460 rs757209625 |
271 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757209625 CA7871743 |
271 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7871744 rs757209625 |
271 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7871741 rs777313389 |
272 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752382002 CA7871739 |
273 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1168785469 CA394577441 |
275 | G>R | No |
ClinGen TOPMed |
|
|
rs1382222998 CA394577435 |
276 | A>D | No |
ClinGen gnomAD |
|
|
CA277037246 rs1028325436 |
276 | A>T | No |
ClinGen TOPMed |
|
|
CA7871735 rs765602708 |
278 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1405359188 CA394577417 |
279 | W>S | No |
ClinGen gnomAD |
|
|
rs558982401 CA7871733 |
280 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7871732 rs768888768 |
283 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA394577377 rs868541812 |
285 | G>A | No |
ClinGen TOPMed |
|
|
CA277037229 rs868541812 |
285 | G>E | No |
ClinGen TOPMed |
|
| TCGA novel | 286 | L>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394577366 rs1426708299 |
287 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA394577363 rs1316894899 |
288 | H>D | No |
ClinGen TOPMed |
|
|
CA394577357 rs746100827 |
288 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA394577360 rs1182333700 |
288 | H>R | No |
ClinGen gnomAD |
|
|
CA277037212 rs1042847369 |
289 | G>C | No |
ClinGen TOPMed |
|
|
rs778614555 CA7871727 |
289 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs762721284 CA394577332 |
292 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA277037206 rs1011387266 |
292 | H>R | No |
ClinGen TOPMed |
|
|
CA7871725 rs749207045 |
296 | V>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 299 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs969206888 CA14275568 |
299 | F>V | No |
ClinGen Ensembl |
|
|
rs1334785327 CA394577283 |
300 | V>D | No |
ClinGen gnomAD |
|
|
CA7871722 rs182142664 |
300 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7871721 rs182142664 |
300 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394577282 rs1167320340 |
301 | M>L | No |
ClinGen TOPMed |
|
|
CA7871720 rs754624245 |
301 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA394577281 rs1167320340 |
301 | M>V | No |
ClinGen TOPMed |
|
|
rs751199997 CA7871719 |
302 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 302 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7871717 rs757597955 |
303 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs576483205 CA7871716 |
308 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA277037068 rs867701778 |
309 | T>A | No |
ClinGen Ensembl |
|
|
rs556349980 CA7871715 |
309 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA394577228 rs867701778 |
309 | T>P | No |
ClinGen Ensembl |
|
|
rs1439974261 CA394577207 |
312 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA7871712 rs537274554 |
313 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs375980146 CA7871713 |
313 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1479871377 CA394577195 |
314 | G>A | No |
ClinGen gnomAD |
|
|
CA277037042 rs956875050 |
315 | Q>R | No |
ClinGen TOPMed |
|
|
rs1339551930 CA394577181 |
316 | S>F | No |
ClinGen TOPMed |
|
|
rs568140024 CA7871710 |
317 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs770666782 CA7871709 |
318 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA394577172 rs1415189861 |
318 | M>V | No |
ClinGen TOPMed |
|
|
CA394577156 rs1242429238 |
320 | G>W | No |
ClinGen gnomAD |
|
|
rs1336380199 CA394577132 |
323 | L>R | No |
ClinGen gnomAD |
|
|
CA394577101 rs1306562915 |
328 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1369534593 CA394577063 |
333 | M>T | No |
ClinGen gnomAD |
|
|
CA277037024 rs372743404 |
333 | M>V | No |
ClinGen ESP |
|
|
CA7871706 rs769785025 |
340 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA7871704 rs780726526 |
340 | R>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs780726526 CA7871705 |
340 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754458281 CA7871703 |
341 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs928250503 CA277036990 |
342 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 343 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394576993 rs779690355 |
344 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs779690355 CA7871701 |
344 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA7871700 rs757575136 |
346 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA394576973 rs1271553193 |
347 | M>L | No |
ClinGen gnomAD |
|
|
rs1200578115 CA394576919 |
350 | G>V | No |
ClinGen gnomAD |
|
|
CA394576893 rs1490276002 |
352 | E>* | No |
ClinGen gnomAD |
|
|
rs1490276002 CA394576894 |
352 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 352 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369684993 CA7871699 |
353 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs751868048 | 353 | E>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764548396 CA7871697 |
354 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756727246 CA7871696 |
356 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146513626 CA277036961 |
358 | V>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs146513626 CA394576791 |
358 | V>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA394576756 rs1314132001 |
360 | R>K | No |
ClinGen gnomAD |
|
|
rs2230738 CA394576749 |
360 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1404132897 CA394576741 |
361 | H>L | No |
ClinGen gnomAD |
|
|
CA277036942 rs867660253 |
362 | A>V | No |
ClinGen Ensembl |
|
|
rs1567153968 CA394576711 |
363 | T>N | No |
ClinGen Ensembl |
|
|
CA7871693 rs145790925 |
364 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs145790925 CA7871692 |
364 | S>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1159195754 CA394576654 |
366 | P>L | No |
ClinGen TOPMed |
|
|
CA394576651 rs1416549660 |
367 | K>E | No |
ClinGen gnomAD |
|
|
CA7871691 rs766569464 |
368 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1399055693 CA394576617 |
369 | R>G | No |
ClinGen TOPMed |
|
|
CA7871689 rs773061605 |
372 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA394576539 rs1487646686 |
373 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 373 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769550957 CA7871688 |
374 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1480318921 CA394576500 |
376 | Q>P | No |
ClinGen gnomAD |
|
|
rs748103177 CA7871687 |
378 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394576440 rs1446904270 |
380 | I>V | No |
ClinGen TOPMed |
|
|
rs77179994 CA277036922 |
381 | A>D | No |
ClinGen Ensembl |
|
|
CA394576421 rs1423803239 |
381 | A>P | No |
ClinGen Ensembl |
|
| TCGA novel | 385 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 389 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs146234753 CA7871686 |
390 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394576314 rs1597236628 |
391 | E>D | No |
ClinGen Ensembl |
|
|
rs1203445175 CA394576320 |
391 | E>Q | No |
ClinGen gnomAD |
|
|
rs1285862685 CA394576285 |
395 | I>M | No |
ClinGen TOPMed |
|
|
CA277036899 rs900011883 |
400 | I>T | No |
ClinGen Ensembl |
|
|
rs1041197324 CA277036892 |
405 | K>N | No |
ClinGen gnomAD |
|
|
CA394576131 rs1213446163 |
406 | M>L | No |
ClinGen TOPMed |
|
|
CA394576089 rs1321227540 |
408 | A>T | No |
ClinGen gnomAD |
|
|
rs368028914 CA7871682 |
414 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7871680 rs778333072 |
421 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778333072 CA7871681 |
421 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA394575880 rs778333072 |
421 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394575830 rs1467893003 |
424 | G>S | No |
ClinGen gnomAD |
|
|
CA7871679 rs756499869 |
425 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA394575783 rs1597236541 |
427 | D>A | No |
ClinGen Ensembl |
|
|
CA7871675 rs751721888 CA394575734 |
431 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA394575720 rs1203348462 |
433 | T>I | No |
ClinGen gnomAD |
|
|
rs750592614 CA7871672 |
438 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA394575683 rs1338456430 |
438 | I>S | No |
ClinGen gnomAD |
|
|
rs1329057812 CA394575662 |
442 | G>R | No |
ClinGen TOPMed |
|
|
CA277036803 rs1011355973 |
444 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
CA394575648 rs1011355973 |
444 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7871668 rs768695964 |
444 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs1410909710 CA394575636 |
445 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs760522585 CA7871667 |
445 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA394575619 rs1237196606 |
448 | V>M | No |
ClinGen TOPMed |
|
| TCGA novel | 450 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394575598 rs1166720360 |
451 | C>F | No |
ClinGen gnomAD |
|
|
CA277036785 rs267604544 |
452 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7871665 rs267604544 |
452 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA394575582 rs1442803909 CA394575583 |
453 | E>D | No |
ClinGen gnomAD |
|
|
CA394575589 rs1183037749 |
453 | E>K | No |
ClinGen gnomAD |
|
|
CA394575585 rs1212912328 |
453 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA277036779 rs919904291 |
454 | P>L | No |
ClinGen Ensembl |
|
|
rs555844213 CA277036780 |
454 | P>S | No |
ClinGen gnomAD |
|
|
CA7871663 rs778668576 |
455 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394575573 rs1454638576 |
456 | A>T | No |
ClinGen TOPMed |
|
|
CA277036761 rs553450429 |
457 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs553450429 CA7871661 |
457 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA394575548 rs1360029703 |
459 | A>V | No |
ClinGen gnomAD |
|
|
CA394575544 rs1243169687 |
460 | Y>C | No |
ClinGen gnomAD |
|
|
rs1374827118 CA394575534 |
461 | C>F | No |
ClinGen gnomAD |
|
|
rs1279775912 CA394575515 |
464 | E>Q | No |
ClinGen gnomAD |
|
|
rs1279089422 CA394575484 |
468 | G>A | No |
ClinGen gnomAD |
|
|
rs1335610846 CA394575478 |
469 | M>T | No |
ClinGen gnomAD |
|
|
rs1402138976 CA394575480 |
469 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
COSM378209 CA7871657 rs780202392 |
471 | K>M | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1366756354 CA394575454 |
472 | A>V | No |
ClinGen gnomAD |
|
|
CA394575451 rs1422823034 |
473 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs750643399 CA7871655 |
473 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs1422823034 CA394575453 |
473 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs762008865 CA7871653 |
474 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA394575421 rs1567153730 |
477 | C>F | No |
ClinGen Ensembl |
|
|
rs1052960850 CA277036703 |
478 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA394575394 rs1201292164 |
480 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 481 | K>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7871652 rs561305813 |
481 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1293349685 CA394575391 |
481 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1442487024 CA394575376 |
483 | M>L | No |
ClinGen TOPMed |
|
|
CA7871651 rs763763787 |
484 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1220075332 CA394575342 |
487 | R>S | No |
ClinGen gnomAD |
|
|
rs775201693 CA277036695 |
490 | V>G | No |
ClinGen gnomAD |
|
| TCGA novel | 490 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7871650 rs760715810 |
492 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1348071139 CA394575303 |
494 | T>A | No |
ClinGen gnomAD |
|
|
rs1284749752 CA394575296 |
495 | V>I | No |
ClinGen gnomAD |
|
|
rs759050637 CA7871647 |
497 | C>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 498 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 501 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1346467918 CA394575252 |
502 | M>K | No |
ClinGen gnomAD |
|
|
CA277036654 rs200124999 |
503 | R>G | No |
ClinGen Ensembl |
|
|
rs774163987 CA7871646 |
503 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748890582 CA7871645 |
504 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1597236269 CA394575233 |
505 | F>V | No |
ClinGen Ensembl |
|
| TCGA novel | 509 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 510 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747579417 CA7871641 |
513 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA394575167 rs1406093665 |
514 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1597236253 CA394575158 |
515 | N>T | No |
ClinGen Ensembl |
|
|
CA394575127 rs780468630 |
520 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA7871640 rs780468630 |
520 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs778957387 CA7871637 |
524 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1272349904 CA394575099 |
524 | G>R | No |
ClinGen TOPMed |
|
|
CA394575094 rs1242242611 |
525 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA7871635 rs371561050 |
527 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1469842444 CA394575072 |
528 | K>R | No |
ClinGen TOPMed |
|
|
CA394575064 rs1597236208 |
529 | V>G | No |
ClinGen Ensembl |
|
|
rs1597236206 CA394575060 |
530 | H>P | No |
ClinGen Ensembl |
|
|
CA277036592 rs72556393 |
531 | I>N | No |
ClinGen Ensembl |
|
|
rs1265100094 CA394575038 |
533 | E>V | No |
ClinGen TOPMed |
|
|
CA394575033 rs1451023510 |
534 | A>D | No |
ClinGen TOPMed |
|
|
rs752686280 CA7871632 |
534 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1597236177 CA394575029 |
535 | T>A | No |
ClinGen Ensembl |
|
|
CA7871631 rs767505370 |
535 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7871629 rs565530412 |
537 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765960096 CA7871628 |
538 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 538 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs534906920 CA277036570 |
540 | D>H | No |
ClinGen Ensembl |
|
|
rs148530006 CA7871627 |
541 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM178873 rs772697228 CA7871626 |
544 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA7871624 rs374304621 |
546 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs144747548 CA7871625 |
546 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7871623 rs545435610 |
547 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7871622 rs772631736 |
548 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA277036534 rs1028632033 |
550 | V>I | No |
ClinGen TOPMed |
|
|
rs779012578 CA7871620 |
551 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394574908 rs1244428187 |
553 | R>Q | No |
ClinGen gnomAD |
|
|
CA394574897 rs1399804998 |
555 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA394574890 rs1460578914 |
556 | Q>R | No |
ClinGen gnomAD |
|
|
rs777791572 CA7871617 |
557 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs767419142 CA7871614 CA7871616 |
558 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767419142 CA7871615 COSM1182053 |
558 | V>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 559 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394574858 rs1296928581 |
561 | D>E | No |
ClinGen gnomAD |
|
|
CA7871612 RCV000971153 rs52791170 |
564 | K>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs766014253 CA7871611 |
564 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA277014685 rs974084624 |
565 | G>D | No |
ClinGen Ensembl |
|
| TCGA novel | 566 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394581101 rs1358886221 |
566 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 568 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394581082 rs1317725141 |
568 | T>I | No |
ClinGen gnomAD |
|
|
CA7871576 rs375887137 |
572 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394581061 rs748406740 |
572 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7871578 rs748406740 |
572 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7871577 rs375887137 |
572 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs527706058 CA277014667 |
574 | Q>P | No |
ClinGen Ensembl |
|
|
CA394581042 rs1157829648 |
575 | R>T | No |
ClinGen TOPMed |
|
|
CA394581033 rs1402669553 |
576 | A>V | No |
ClinGen TOPMed |
|
|
rs758306629 CA7871573 |
578 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394581024 rs758306629 |
578 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778307855 CA7871572 |
579 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA7871571 rs778307855 |
579 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs144065949 CA7871570 RCV000906335 |
580 | R>C | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA394581011 rs1362893267 |
580 | R>H | No |
ClinGen gnomAD |
|
|
CA394580988 rs1471821175 |
583 | C>S | No |
ClinGen gnomAD |
|
|
rs1431883830 CA394580982 |
584 | A>S | No |
ClinGen gnomAD |
|
|
rs763678836 CA7871568 |
586 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1597160753 CA394580953 |
588 | L>P | No |
ClinGen Ensembl |
|
|
rs760308458 CA7871567 |
589 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7871565 rs766737348 |
592 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763421336 CA7871564 |
593 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1222869446 CA394580917 |
594 | I>T | No |
ClinGen gnomAD |
|
|
rs1283681015 CA394580920 |
594 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1382301876 CA394580902 |
596 | G>D | No |
ClinGen gnomAD |
|
|
CA7871562 rs765267200 |
596 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1318198374 CA394580885 CA394580886 |
599 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA7871560 rs776834880 |
602 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA7871559 rs769064622 |
603 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7871558 rs747200497 |
604 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394580853 rs1205300450 |
605 | G>R | No |
ClinGen TOPMed |
|
|
CA7871557 rs775196337 |
606 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA7871556 rs771848877 |
607 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1435663987 CA394580835 |
608 | T>A | No |
ClinGen TOPMed |
|
|
rs745823164 CA7871555 |
608 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs150452337 CA7871554 |
609 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs745357854 CA7871551 |
612 | G>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 614 | V>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA277014567 rs193292810 |
615 | S>I | No |
ClinGen 1000Genomes gnomAD |
|
|
rs193292810 CA394580790 |
615 | S>T | No |
ClinGen 1000Genomes gnomAD |
|
|
rs755805807 CA7871550 |
618 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1597160644 CA394580763 |
619 | Q>R | No |
ClinGen Ensembl |
|
|
CA394580758 rs1434163106 |
620 | T>A | No |
ClinGen TOPMed |
|
|
CA7871549 rs752375588 |
624 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA277014543 rs79644398 |
624 | F>S | No |
ClinGen Ensembl |
|
|
rs1454288972 CA394580719 |
626 | N>D | No |
ClinGen gnomAD |
|
|
rs1383105495 CA394580706 |
627 | L>R | No |
ClinGen gnomAD |
|
|
CA7871548 rs766679285 |
628 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1597151710 CA394580683 |
629 | T>P | No |
ClinGen Ensembl |
|
|
CA277002214 rs984781815 |
629 | T>S | No |
ClinGen TOPMed |
|
|
rs770923723 CA7871531 |
630 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA7871530 rs140567074 |
631 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA394580669 rs1165709276 |
631 | P>S | No |
ClinGen TOPMed |
|
|
rs148220141 CA7871529 |
632 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA277002185 rs994169231 |
633 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs780834261 CA7871526 |
634 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1047946477 CA277002169 |
635 | I>F | No |
ClinGen Ensembl |
|
|
rs1467317181 CA394580629 |
638 | A>T | No |
ClinGen gnomAD |
|
|
rs750862551 CA7871524 |
638 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1361670996 CA394580623 |
639 | P>S | No |
ClinGen gnomAD |
|
|
rs868204077 CA277002139 |
641 | S>F | No |
ClinGen Ensembl |
|
|
CA277002137 rs973524248 |
642 | E>D | No |
ClinGen gnomAD |
|
|
CA7871520 rs370853116 |
644 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs915966240 CA277002116 |
645 | A>D | No |
ClinGen gnomAD |
|
|
CA7871518 rs752875724 |
645 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs915966240 CA394580584 |
645 | A>V | No |
ClinGen gnomAD |
|
|
rs774173598 CA7871515 |
646 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA7871516 rs759674069 |
646 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7871513 rs200558073 |
647 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs770692766 CA7871514 |
647 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs773096560 CA7871512 |
648 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1475481446 CA394580567 |
649 | A>P | No |
ClinGen TOPMed |
|
|
rs769302200 CA7871511 |
650 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394580552 rs1255643254 |
651 | Q>H | No |
ClinGen gnomAD |
|
|
CA7871510 rs146408573 |
651 | Q>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs780559672 CA7871509 |
652 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143999770 CA7871508 |
653 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7871507 rs542893253 |
654 | C>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA394580531 rs1245676303 |
655 | Q>E | No |
ClinGen gnomAD |
|
|
rs1597151596 CA394580528 |
655 | Q>P | No |
ClinGen Ensembl |
|
|
rs977346667 CA394580516 |
656 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA7871506 rs779440212 |
657 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1227383281 CA394580488 |
660 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs113187435 RCV000970887 CA7871504 |
661 | S>G | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 661 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394580327 rs1597150761 |
665 | S>F | No |
ClinGen Ensembl |
|
|
rs76488354 CA277000749 |
666 | G>* | No |
ClinGen Ensembl |
|
|
rs1378313214 CA394580317 |
667 | G>E | No |
ClinGen TOPMed |
|
|
rs1160205554 CA394580321 |
667 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA7871457 rs780073586 |
668 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA394580299 rs1173019018 |
670 | P>H | No |
ClinGen TOPMed |
|
|
rs1452957344 CA394580302 |
670 | P>T | No |
ClinGen TOPMed |
|
|
CA394580278 rs1386547859 |
673 | Q>R | No |
ClinGen gnomAD |
|
|
CA7871455 rs750592510 |
674 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs112278827 CA7871454 |
674 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7871451 rs763995166 |
675 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763995166 CA7871452 |
675 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7871450 rs370068796 |
677 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA394580250 rs1253174135 |
678 | S>N | No |
ClinGen gnomAD |
|
|
CA7871449 rs775180493 |
679 | P>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 683 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs868435762 CA277000641 |
686 | T>I | No |
ClinGen Ensembl |
|
|
rs759286668 CA7871447 |
687 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394580183 rs1245864546 |
688 | S>G | No |
ClinGen gnomAD |
|
|
rs1400305269 CA394580169 |
689 | Q>H | No |
ClinGen gnomAD |
|
|
rs1321369782 CA394580155 |
692 | L>V | No |
ClinGen gnomAD |
|
|
rs770201418 CA7871445 |
694 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 694 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA277000620 rs866821182 |
697 | Q>* | No |
ClinGen Ensembl |
|
|
rs866821182 CA394580122 |
697 | Q>E | No |
ClinGen Ensembl |
|
|
CA277000612 rs961185232 |
697 | Q>H | No |
ClinGen Ensembl |
|
|
CA394580119 rs1347782959 |
697 | Q>R | No |
ClinGen TOPMed |
|
| TCGA novel | 698 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394580073 rs1366944598 |
703 | A>V | No |
ClinGen gnomAD |
|
|
rs1262012014 CA394580072 |
704 | G>R | No |
ClinGen TOPMed |
|
|
CA277000575 rs1016884739 |
705 | V>M | No |
ClinGen Ensembl |
|
|
rs1456924971 CA394580058 |
706 | S>I | No |
ClinGen gnomAD |
|
|
CA394580056 rs1456924971 |
706 | S>N | No |
ClinGen gnomAD |
|
|
rs1005470058 CA277000569 COSM1377878 |
710 | S>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1235979588 CA394580021 |
712 | L>V | No |
ClinGen TOPMed |
|
|
CA394580006 rs1482347441 |
714 | P>L | No |
ClinGen gnomAD |
|
|
rs201116391 CA7871436 |
715 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150564905 CA7871434 |
716 | R>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777620315 CA7871433 |
716 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201439024 CA277000526 |
717 | F>L | No |
ClinGen Ensembl |
|
|
rs1174337540 CA394579986 |
718 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 719 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7871431 rs752621995 COSM1678812 |
721 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs756178630 CA7871432 |
721 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA7871430 rs767139105 |
722 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1347350747 CA394579941 |
724 | T>M | No |
ClinGen gnomAD |
|
|
COSM1377877 rs142301454 CA277000488 |
725 | D>Y | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP NCI-TCGA |
|
rs1387880515 CA394579931 |
726 | A>S | No |
ClinGen gnomAD |
|
|
CA394579933 rs1387880515 |
726 | A>T | No |
ClinGen gnomAD |
|
|
CA394579910 rs1457412681 |
729 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs762632067 CA7871427 |
730 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7871425 rs776923222 |
731 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1471789490 CA394579882 |
733 | K>R | No |
ClinGen gnomAD |
|
|
rs1291221245 CA394579874 |
734 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA394579870 rs1597150543 |
735 | D>N | No |
ClinGen Ensembl |
|
|
CA7871400 rs147236842 |
736 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394579317 rs1393881621 |
738 | M>I | No |
ClinGen TOPMed |
|
|
CA7871399 rs778100108 |
739 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs769730820 CA7871398 |
742 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA394579265 rs1389621551 |
743 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA7871397 rs748002012 |
745 | P>L | No |
ClinGen ExAC |
|
| TCGA novel | 745 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1438401631 CA394579223 |
747 | I>V | No |
ClinGen TOPMed |
|
|
rs746910984 CA7871394 |
748 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1567425939 CA394579187 |
750 | F>C | No |
ClinGen Ensembl |
|
|
CA394579174 rs1229246853 |
751 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA276997928 COSM970633 rs1010017999 |
754 | F>V | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs750100695 CA7871391 |
756 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs143872089 CA7871390 |
757 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394579096 rs1195495074 |
758 | E>G | No |
ClinGen TOPMed |
|
|
CA276997926 rs200493349 |
759 | L>V | No |
ClinGen Ensembl |
|
|
rs1268282511 CA394579065 |
761 | R>* | No |
ClinGen TOPMed |
|
|
rs1482479944 CA394579062 |
761 | R>P | No |
ClinGen gnomAD |
|
|
rs1482479944 CA394579064 |
761 | R>Q | No |
ClinGen gnomAD |
|
|
rs1597148485 CA394579051 |
762 | S>F | No |
ClinGen Ensembl |
|
|
CA7871389 rs756874601 |
763 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs767854924 COSM340441 CA7871387 |
766 | S>C | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA276997920 rs765982614 |
767 | Y>C | No |
ClinGen gnomAD |
|
|
rs774854321 CA7871385 |
770 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA276991682 rs751329610 |
771 | V>I | No |
ClinGen Ensembl |
|
|
rs760570249 CA394577993 |
772 | I>K | No |
ClinGen ExAC gnomAD |
|
|
VAR_023750 CA7871359 rs2230739 |
772 | I>M | found in 37.5% of the Asian population, in 30% of the Caucasian population and in 16.3% of the African-American population; reduced adenylyl cyclase activity in response to stimulation of the beta-adregnergic receptor by Mn(2+) agonists isoproteronol and NaF; increased albuterol-stimulated adenylyl cyclase activity in the presence of corticosteroid [UniProt] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA7871360 rs760570249 |
772 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA7871361 rs768361177 |
772 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA394577976 rs1438743877 |
774 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1367661195 COSM1377875 CA394577970 |
775 | S>F | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1434109826 CA394577968 |
776 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1386171256 CA394577964 |
776 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs374735605 CA7871355 |
777 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7871354 rs748969774 |
779 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA394577946 rs1170328809 |
779 | T>M | No |
ClinGen gnomAD |
|
|
CA394577928 rs1421051771 |
782 | S>N | No |
ClinGen TOPMed |
|
|
CA394577916 rs1187522586 |
784 | T>A | No |
ClinGen gnomAD |
|
|
CA394577906 rs1435893894 |
785 | F>S | No |
ClinGen TOPMed |
|
|
rs1212916667 CA394577903 |
786 | S>G | No |
ClinGen gnomAD |
|
|
CA394577898 rs1313318580 |
786 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA394577899 rs1313318580 |
786 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA276991655 rs922260415 |
787 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA394577888 rs1567422183 |
788 | L>F | No |
ClinGen Ensembl |
|
|
rs759028302 CA7871350 |
790 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs759028302 CA7871349 |
790 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs759028302 CA394577879 |
790 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1221654127 CA394577853 |
794 | S>P | No |
ClinGen TOPMed |
|
|
CA394577854 rs1221654127 |
794 | S>T | No |
ClinGen TOPMed |
|
|
CA394577834 rs1448423965 |
797 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs753842503 CA7871345 |
800 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1597143694 CA394577801 |
803 | T>P | No |
ClinGen Ensembl |
|
|
CA394577789 rs1167617329 |
805 | C>R | No |
ClinGen gnomAD |
|
|
rs1183996465 CA394577771 |
807 | L>Q | No |
ClinGen gnomAD |
|
|
CA276991611 rs985777337 |
808 | K>E | No |
ClinGen Ensembl |
|
|
rs1481740999 CA394577765 |
808 | K>R | No |
ClinGen TOPMed |
|
|
CA7871341 rs201102758 |
809 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7871339 rs186527865 |
810 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs186527865 CA394577754 |
810 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394577747 rs1352626603 |
811 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7871338 rs372048350 |
811 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1228010830 CA394577742 |
812 | A>T | No |
ClinGen gnomAD |
|
|
rs1306009113 CA394577737 |
812 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs777113575 CA7871336 |
813 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs777113575 CA394577735 |
813 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA7871334 rs145223924 |
814 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7871333 rs145223924 |
814 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA276991535 rs1002199492 |
816 | P>H | No |
ClinGen TOPMed |
|
|
rs1002199492 CA394577719 |
816 | P>R | No |
ClinGen TOPMed |
|
|
rs750993435 CA7871331 |
816 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA7871330 rs367822989 |
817 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394577706 rs764068928 |
819 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs764068928 CA7871327 |
819 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs752796119 CA394577701 |
820 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752796119 CA7871325 |
820 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767330823 CA7871324 |
820 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA394577688 rs558610583 |
822 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7871323 rs558610583 |
822 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs766342969 CA394577670 |
825 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs766342969 CA7871321 |
825 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs777128676 CA7871320 |
826 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1046996697 CA276991484 |
827 | A>S | No |
ClinGen TOPMed |
|
|
rs1291186470 CA394577657 |
827 | A>V | No |
ClinGen gnomAD |
|
|
rs929877484 CA276991474 |
830 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA394577646 rs929877484 |
830 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs922314244 CA276991450 |
831 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs922314244 CA394577642 |
831 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1597143538 CA394577630 |
832 | V>G | No |
ClinGen Ensembl |
|
|
CA394577635 rs1293822996 |
832 | V>M | No |
ClinGen gnomAD |
|
|
CA276991447 rs766810277 |
833 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA394577617 rs1459120707 |
835 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA394577611 rs1181701464 |
836 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA394577612 rs1181701464 |
836 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA394577608 rs1417470406 |
836 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs776102254 CA7871316 |
839 | I>M | No |
ClinGen ExAC |
|
|
CA7871290 rs187903829 |
842 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA394576917 rs1186780237 |
843 | F>Y | No |
ClinGen TOPMed |
|
|
rs900818550 CA276985268 |
845 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA394576869 rs1450302468 |
847 | D>A | No |
ClinGen gnomAD |
|
|
rs375674603 CA7871287 |
848 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs766162854 CA7871285 |
850 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA394576820 rs758085762 |
851 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7871284 rs758085762 |
851 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750213995 CA276985220 |
854 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750213995 CA7871283 |
854 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7871282 rs142198070 |
854 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs142198070 CA7871281 |
854 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760409676 CA7871278 |
858 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1267974635 CA394576754 |
858 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
rs545216961 CA394576727 |
860 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs545216961 CA7871277 |
860 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA7871275 rs763275318 |
861 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394576702 rs1373761894 |
862 | W>C | No |
ClinGen gnomAD |
|
|
CA276985163 rs1004277264 |
864 | P>A | No |
ClinGen Ensembl |
|
|
rs773593169 CA394576681 |
865 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770270080 CA7871273 |
865 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs773593169 CA7871274 |
865 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs910937151 CA276985147 |
866 | H>L | No |
ClinGen TOPMed |
|
|
CA7871272 rs748638309 |
868 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1473692140 CA394576643 |
869 | G>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 870 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747260152 CA7871269 |
871 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394576602 rs149616013 |
873 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7871268 rs149616013 |
873 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA276985099 rs755239155 |
874 | S>L | No |
ClinGen TOPMed |
|
|
rs1026739385 CA276985089 |
876 | P>R | No |
ClinGen Ensembl |
|
|
rs144986362 COSM178844 CA7871265 |
877 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs145252548 CA276985070 |
877 | A>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1290685591 CA394576540 |
879 | A>V | No |
ClinGen gnomAD |
|
|
CA7871261 rs377240633 |
880 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA276985012 rs959451403 |
882 | S>Y | No |
ClinGen TOPMed |
|
|
CA7871259 rs767115758 |
883 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394576477 rs1303982675 |
885 | T>I | No |
ClinGen TOPMed |
|
|
CA394576479 rs1567419574 |
885 | T>S | No |
ClinGen Ensembl |
|
|
rs770135718 CA7871256 |
887 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770135718 CA394576462 |
887 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394576449 rs1182795178 |
888 | Y>H | No |
ClinGen gnomAD |
|
|
rs372821407 CA7871255 |
891 | N>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7871254 rs777080266 |
892 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA394576403 rs1202549975 |
892 | I>V | No |
ClinGen TOPMed |
|
|
rs768742360 CA7871253 |
893 | H>N | No |
ClinGen ExAC gnomAD |
|
| rs758044219 | 894 | F>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1251094400 CA394576278 |
894 | F>I | No |
ClinGen TOPMed |
|
|
CA7871217 rs550558850 |
896 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA276983638 rs764388635 |
896 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA7871218 rs764388635 |
896 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA394576244 rs1439383555 |
897 | F>V | No |
ClinGen TOPMed |
|
|
rs776026141 CA7871216 |
898 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7871214 rs759712460 |
898 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA7871215 rs759712460 |
898 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs1359591767 CA394576217 |
899 | G>D | No |
ClinGen gnomAD |
|
|
rs771344306 COSM50420 CA7871212 |
900 | S>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1597139296 CA394576198 |
901 | A>V | No |
ClinGen Ensembl |
|
|
CA7871208 rs147280539 |
902 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7871206 rs147280539 |
902 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7871207 rs147280539 |
902 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs912752455 CA276983557 |
902 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs779529291 CA7871204 |
903 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1597139260 CA394576160 |
905 | A>V | No |
ClinGen Ensembl |
|
|
rs150826321 CA276983540 |
906 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7871202 rs150826321 COSM308948 |
906 | V>I | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA7871200 rs756453051 |
907 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394576118 rs905073122 |
909 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1457319401 CA394576122 |
909 | Y>H | No |
ClinGen TOPMed |
|
|
CA276983522 rs905073122 |
909 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1045137938 CA276983518 |
910 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA394576113 rs1045137938 |
910 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA394576107 rs1252168727 |
910 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA394576088 rs1204091731 |
912 | F>I | No |
ClinGen gnomAD |
|
|
CA7871199 rs752983999 |
915 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA394576017 rs1310659602 |
918 | W>R | No |
ClinGen gnomAD |
|
|
CA7871197 rs759954267 |
920 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA276983501 rs759954267 |
920 | R>M | No |
ClinGen ExAC gnomAD |
|
|
rs1464029468 CA394575980 |
921 | S>A | No |
ClinGen TOPMed |
|
|
CA394575976 rs1329834891 |
921 | S>F | No |
ClinGen TOPMed |
|
|
rs751717694 CA7871196 |
923 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763272036 CA394575953 |
924 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA7871194 rs763272036 |
924 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA394575928 rs1167591871 |
926 | V>A | No |
ClinGen gnomAD |
|
|
CA7871190 rs776256089 |
926 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394575924 rs779548082 |
927 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7871187 rs779548082 |
927 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs144319192 CA7871184 |
929 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7871182 rs753174574 |
930 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA394575892 rs753174574 |
930 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA394575897 rs1214446616 |
930 | G>R | No |
ClinGen TOPMed |
|
|
rs374631917 CA7871181 |
931 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1190816780 CA394575868 |
933 | L>P | No |
ClinGen TOPMed |
|
|
rs1262881841 CA394575852 |
935 | L>F | No |
ClinGen TOPMed |
|
|
CA7871176 rs750505834 |
936 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1169192126 CA394575842 |
936 | Y>D | No |
ClinGen TOPMed |
|
|
CA7871174 rs374209133 |
937 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1347599961 CA394575816 |
938 | S>F | No |
ClinGen TOPMed |
|
|
CA7871172 rs768273214 |
939 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1176556124 CA394575791 |
941 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1039087539 CA276983385 |
941 | P>L | No |
ClinGen TOPMed |
|
|
rs200807161 CA7871143 |
945 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs780559235 CA7871141 |
947 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA394574799 rs758989525 |
947 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7871140 rs758989525 |
947 | T>S | No |
ClinGen ExAC gnomAD |
|
|
COSM970628 CA7871138 rs779084996 |
948 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1044390225 CA276981212 |
949 | P>A | No |
ClinGen gnomAD |
|
| TCGA novel | 950 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756325728 CA7871134 |
952 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA394574768 rs950171987 |
953 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs950171987 CA276981192 |
953 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1434141802 CA394574761 |
954 | Q>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 956 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7871108 rs764775577 |
959 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs974015341 CA276975995 |
961 | N>D | No |
ClinGen TOPMed |
|
|
CA7871106 rs768405098 |
962 | P>L | Variant assessed as Somatic; 4.646e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7871105 rs768405098 |
962 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7871103 rs774774591 |
963 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394574675 rs1258513412 |
964 | N>D | No |
ClinGen Ensembl |
|
|
rs771400616 CA7871102 |
964 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA394574668 rs1335425544 |
965 | S>G | No |
ClinGen gnomAD |
|
|
rs1042273291 CA276975981 |
965 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA7871100 COSM970627 rs777717895 |
966 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA7871098 rs748391119 |
967 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7871096 rs184286992 |
968 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs368342558 CA7871097 |
968 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs545959256 CA7871094 |
969 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7871092 rs141519764 |
969 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141519764 CA7871093 |
969 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1027823367 CA276975936 |
970 | D>A | No |
ClinGen Ensembl |
|
|
rs893651633 CA276975933 |
971 | L>F | No |
ClinGen TOPMed |
|
|
rs1470161574 CA394574635 |
971 | L>P | No |
ClinGen gnomAD |
|
|
rs200143861 CA394574633 |
972 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs374135203 CA276975916 |
972 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374135203 COSM178841 CA7871090 |
972 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs200143861 CA7871091 |
972 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs763906715 CA7871088 |
973 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7871089 rs200825289 |
973 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs774593490 CA7871086 |
975 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs774593490 CA276975872 |
975 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1401024401 CA394574617 |
976 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1236756658 CA394574613 |
976 | S>I | No |
ClinGen gnomAD |
|
|
CA394574609 rs1371929686 |
977 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs763398960 CA7871085 |
978 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770263456 CA7871082 |
979 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7871083 rs770263456 |
979 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7871080 rs776685050 |
980 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs768815007 CA394574591 |
980 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768815007 CA7871079 |
980 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394574575 rs1175185834 |
982 | V>G | No |
ClinGen gnomAD |
|
|
CA394574561 rs745631015 |
985 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7871075 rs745631015 |
985 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745631015 CA394574562 COSM1629894 |
985 | V>L | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs779038291 CA7871072 |
988 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779038291 CA394574541 |
988 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755728965 CA7871068 |
992 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA394574517 rs763640707 |
992 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394574507 rs1246814546 |
993 | V>G | No |
ClinGen TOPMed |
|
|
rs1348910075 CA394574497 |
995 | F>I | No |
ClinGen gnomAD |
|
|
rs752352941 CA7871066 |
995 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1467181138 CA394574475 |
998 | R>C | No |
ClinGen TOPMed |
|
|
rs372256275 CA7871065 |
998 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773530497 CA7871063 |
999 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7871062 rs765800358 |
1004 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394574432 rs765800358 |
1004 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762293576 CA7871061 |
1005 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA7871060 rs776703788 |
1005 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1374494955 CA394574421 |
1006 | L>H | No |
ClinGen gnomAD |
|
|
rs1171333142 CA394574416 |
1007 | H>Y | No |
ClinGen gnomAD |
|
|
rs768712325 CA7871059 |
1009 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1422083472 CA394574399 |
1009 | H>R | No |
ClinGen gnomAD |
|
|
CA276975794 rs369874673 |
1011 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394574381 rs1415087301 |
1012 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1257126554 CA394574357 |
1015 | D>E | No |
ClinGen gnomAD |
|
|
rs961414699 CA276975770 |
1015 | D>G | No |
ClinGen gnomAD |
|
|
rs1208276083 CA394574350 |
1016 | L>R | No |
ClinGen gnomAD |
|
|
rs72556389 CA276975760 |
1017 | H>L | No |
ClinGen Ensembl |
|
|
rs954982548 CA276975766 |
1017 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs772154703 CA7871056 |
1018 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA7871055 rs745725605 |
1019 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA7871054 rs778842205 |
1020 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA394574330 rs1316019716 |
1020 | K>T | No |
ClinGen gnomAD |
|
|
rs757277884 CA7871053 |
1022 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs749173620 CA7871052 |
1024 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs777459326 CA394574296 |
1025 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA7871050 rs537762832 |
1025 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 1025 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1428143466 CA394574269 |
1029 | D>H | No |
ClinGen TOPMed |
|
|
rs767235806 CA7871048 |
1030 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA394574195 CA394574194 rs375586019 |
1039 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1040 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1422168562 CA394574182 |
1041 | A>V | No |
ClinGen gnomAD |
|
|
CA394574133 rs1167697653 |
1048 | Q>H | No |
ClinGen gnomAD |
|
|
rs750845309 CA7871046 |
1049 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs762310025 CA7871044 |
1051 | S>P | No |
ClinGen ExAC |
|
|
CA394574110 rs1180128663 |
1052 | K>R | No |
ClinGen gnomAD |
|
|
rs2230742 CA7871043 CA394574092 |
1054 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394574088 rs1234569494 |
1055 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA276975732 rs964742894 |
1055 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA394574090 rs964742894 |
1055 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA394574087 rs1234569494 |
1055 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA394574091 rs964742894 |
1055 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
COSM1678811 rs760849601 CA7871041 |
1057 | G>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA394574060 rs1597132015 |
1059 | V>G | No |
ClinGen Ensembl |
|
|
CA7871040 rs775427887 |
1060 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1315704361 CA394574052 |
1061 | F>L | No |
ClinGen gnomAD |
|
|
rs72556390 CA394574044 |
1062 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs72556390 CA276975722 |
1062 | A>T | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA7871038 rs759778264 |
1063 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs566557148 CA394574033 |
1064 | I>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs566557148 CA7871037 |
1064 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7871034 rs777812556 |
1065 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1297229961 CA394574027 |
1065 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1297229961 CA394574026 |
1065 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA394574018 rs1359571796 |
1066 | N>S | No |
ClinGen TOPMed |
|
|
rs146567172 CA7871033 |
1068 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7871032 rs151019592 |
1068 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs959631555 CA276975671 |
1069 | E>A | No |
ClinGen Ensembl |
|
|
rs552555768 CA276975674 |
1069 | E>K | No |
ClinGen Ensembl |
|
|
rs1162803356 CA394573978 |
1072 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA394573977 rs1162803356 |
1072 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs779278647 CA7871028 |
1076 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs757669826 CA7871027 |
1077 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA7871025 rs371807206 |
1078 | G>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1222332240 CA394573925 |
1079 | K>R | No |
ClinGen TOPMed |
|
|
rs759871885 CA394573896 |
1083 | R>P | No |
ClinGen ExAC TOPMed |
|
|
CA7871021 rs759871885 |
1083 | R>Q | No |
ClinGen ExAC TOPMed |
|
|
rs767432735 CA7871022 |
1083 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1237487191 CA394573887 |
1085 | L>F | No |
ClinGen gnomAD |
|
|
rs762878876 CA7871018 |
1089 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1395101421 CA394573831 |
1093 | D>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1093 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780756690 CA7871014 |
1096 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs768112417 CA7871013 |
1097 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1397079174 CA394573787 |
1099 | P>L | No |
ClinGen gnomAD |
|
|
CA7871012 rs531124205 |
1099 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed |
|
rs754286793 CA7871009 |
1100 | D>A | No |
ClinGen ExAC |
|
|
rs758042130 CA7871010 |
1100 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA394573779 rs1265231936 |
1101 | Y>H | No |
ClinGen gnomAD |
|
|
CA394573772 rs1434488549 |
1102 | S>G | No |
ClinGen TOPMed |
|
|
CA7871007 rs756652210 |
1102 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7871006 rs548468725 |
1103 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7871004 rs759735634 |
1104 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394573754 rs1213738293 |
1104 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 1109 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1445327990 CA394573708 COSM1742714 |
1111 | G>R | biliary_tract [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA394573691 rs1299897624 |
1113 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA7871000 rs773073326 |
1116 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA394573663 rs1417890063 |
1117 | A>V | No |
ClinGen gnomAD |
|
|
CA7870996 rs576787672 |
1121 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA394573638 rs1597131810 |
1122 | T>P | No |
ClinGen Ensembl |
|
|
CA7870993 COSM3402320 rs771725261 |
1123 | A>T | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA7870992 rs745449501 COSM3794847 |
1123 | A>V | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA7870990 rs756388353 |
1124 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA276975481 rs940194040 |
1124 | Q>R | No |
ClinGen Ensembl |
|
|
CA7870989 rs544468394 |
1125 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7870988 rs374305565 |
1125 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751743531 CA7870986 |
1126 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA276975475 rs776446870 |
1127 | D>G | No |
ClinGen Ensembl |
|
|
CA394573611 rs1230026025 |
1127 | D>N | No |
ClinGen gnomAD |
|
|
rs750569843 CA7870983 |
1128 | G>D | No |
ClinGen ExAC |
|
|
CA394573604 rs1278100124 |
1128 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1357446146 CA394573582 |
1131 | P>A | No |
ClinGen gnomAD |
|
|
rs201367484 CA7870982 |
1131 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs776481614 CA7870980 |
1132 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA276975444 rs551293106 |
1135 | L>V | No |
ClinGen Ensembl |
|
|
CA394573550 rs1422886469 |
1136 | Q>* | No |
ClinGen gnomAD |
|
|
rs1168406570 CA394573545 |
1136 | Q>H | No |
ClinGen gnomAD |
|
|
rs1417323161 CA394573547 |
1136 | Q>R | No |
ClinGen TOPMed |
|
|
rs1475939275 CA394573537 |
1137 | I>M | No |
ClinGen gnomAD |
|
|
rs774989006 CA7870977 |
1138 | L>V | No |
ClinGen ExAC gnomAD |
|
|
COSM231718 rs745559844 CA7870975 |
1140 | E>K | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA394573508 rs770583603 |
1142 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7870973 rs770583603 |
1142 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7870972 rs748524658 |
1145 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7870971 rs781677508 |
1146 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755552694 CA7870970 |
1147 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs755552694 CA394573471 |
1147 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs145693515 CA7870969 |
1147 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145693515 CA394573470 |
1147 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1338947684 CA394573468 |
1148 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA7870968 rs780311928 |
1150 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA7870966 rs750492924 |
1151 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA276975363 rs61731445 |
1154 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs61731445 CA7870965 VAR_070887 |
1154 | N>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs757489326 CA7870964 |
1155 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA394573403 rs1365225812 |
1157 | L>Q | No |
ClinGen gnomAD |
|
|
CA7870962 rs763810376 |
1158 | W>S | No |
ClinGen ExAC gnomAD |
|
|
rs752586436 CA7870961 |
1160 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1197068652 CA394573364 |
1162 | K>R | No |
ClinGen gnomAD |
|
|
rs1195076485 CA394573353 |
1164 | R>C | No |
ClinGen TOPMed |
|
|
CA394573351 COSM3817969 rs1421885899 |
1164 | R>H | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs144864117 CA7870957 |
1165 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394573349 rs144864117 |
1165 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7870954 rs777136439 |
1168 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs940309439 CA276975279 |
1169 | H>R | No |
ClinGen Ensembl |
|
|
CA7870951 rs780753391 |
1171 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780753391 CA394573310 |
1171 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1377869 rs1371707087 CA394573294 |
1173 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1403167221 CA394573288 |
1174 | A>V | No |
ClinGen gnomAD |
|
|
rs1158584676 CA394573287 |
1175 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA394573277 rs1597131570 |
1176 | V>G | No |
ClinGen Ensembl |
|
|
rs757425450 CA7870947 |
1176 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA394573275 rs1567412866 |
1177 | I>V | No |
ClinGen Ensembl |
|
|
CA7870945 rs777570578 |
1178 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775005712 CA276975237 |
1181 | K>E | No |
ClinGen Ensembl |
|
|
rs1206521304 CA394573227 |
1185 | D>N | No |
ClinGen TOPMed |
|
|
CA7870940 rs751041166 |
1189 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1368036635 CA394573185 |
1190 | T>I | No |
ClinGen gnomAD |
|
|
rs772950125 CA7870937 |
1193 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA7870936 rs769546776 |
1194 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 1198 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA276975178 rs267604541 |
1201 | G>D | No |
ClinGen gnomAD |
|
|
COSM435241 rs149465612 CA7870933 |
1201 | G>S | Variant assessed as Somatic; 0.0001386 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs778892072 CA7870931 |
1202 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770998158 CA7870930 |
1204 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA7870929 rs749352306 COSM1128959 |
1205 | R>C | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA7870928 rs778012664 |
1205 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA394573078 rs1160493612 |
1206 | I>M | No |
ClinGen TOPMed |
|
| TCGA novel | 1206 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747992457 CA7870926 |
1207 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1567412764 CA394573074 |
1207 | Q>R | No |
ClinGen Ensembl |
|
|
CA394573057 rs754871847 |
1209 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA276975155 rs770070508 |
1210 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1341412380 CA394573042 |
1211 | E>D | No |
ClinGen gnomAD |
|
|
rs914794233 CA276975154 |
1213 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs914794233 CA394573029 |
1213 | Y>F | No |
ClinGen TOPMed |
|
|
rs1278739094 CA394573024 |
1214 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA7870923 rs200863972 |
1214 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7870919 rs765047478 |
1215 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs369920383 CA7870921 COSM1182055 |
1215 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs369920383 CA7870920 |
1215 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394573000 rs1282118320 |
1218 | K>T | No |
ClinGen TOPMed |
|
|
rs981533550 CA276975122 |
1219 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs761501337 CA394572992 |
1219 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7870918 rs761501337 |
1219 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1219 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201893525 CA7870917 |
1220 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA276975117 rs971860689 |
1221 | Y>C | No |
ClinGen TOPMed |
|
|
CA7870916 rs767884304 |
1224 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA394572960 rs1477572085 |
1224 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 1227 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7870914 rs141452008 |
1229 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs559533290 CA7870913 |
1230 | N>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 1230 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1362306134 CA394572876 |
1236 | Q>P | No |
ClinGen TOPMed |
|
| TCGA novel | 1236 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773264079 CA7870911 |
1237 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA394572853 rs1315921662 |
1239 | T>N | No |
ClinGen gnomAD |
|
|
rs1294598242 CA394572850 |
1240 | Y>N | No |
ClinGen gnomAD |
|
|
rs748299013 CA7870909 |
1244 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7870908 rs147811130 |
1246 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394572792 rs1465567691 |
1248 | H>P | No |
ClinGen gnomAD |
|
|
rs746758399 CA7870906 |
1249 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA276975095 rs1007408384 |
1250 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA394572765 rs780077845 |
1252 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7870905 rs780077845 |
1252 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202245497 CA276975092 CA394572758 |
1253 | Q>H | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1597131338 CA394572759 |
1253 | Q>L | No |
ClinGen Ensembl |
|
|
rs1413392573 CA394572753 |
1254 | H>R | No |
ClinGen gnomAD |
|
|
rs758404652 CA7870904 |
1255 | Q>R | No |
ClinGen ExAC |
|
|
rs764775400 CA7870902 |
1256 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs753481552 CA394572729 |
1258 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs753481552 CA7870900 |
1258 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA394572731 rs1334815418 |
1258 | I>V | No |
ClinGen TOPMed |
|
|
CA7870899 rs376614156 |
1259 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7870897 rs774577020 |
1261 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs766932381 CA7870896 |
1261 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA7870895 rs763389710 |
1263 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773282474 CA7870894 |
1263 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7870892 rs151282873 |
1264 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7870891 rs367911334 |
1265 | Q>H | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA7870890 rs768729134 |
1267 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA394572673 rs1162694496 |
1268 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1421753893 CA394572664 |
1269 | S>N | No |
ClinGen gnomAD |
|
|
CA394572654 rs1177794562 |
1270 | I>M | No |
ClinGen gnomAD |
|
|
rs538118003 CA276975021 |
1270 | I>T | No |
ClinGen TOPMed |
|
|
rs746886527 CA7870889 |
1271 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs997238587 CA276975011 |
1272 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs371680928 CA7870888 |
1272 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA276974998 rs897486098 |
1274 | P>A | No |
ClinGen Ensembl |
|
|
rs778588883 CA7870886 |
1277 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1374162032 CA394572566 |
1278 | I>M | No |
ClinGen TOPMed |
|
|
CA394572579 rs1567412547 |
1278 | I>T | No |
ClinGen Ensembl |
|
|
rs142260607 CA276974963 |
1278 | I>V | No |
ClinGen ESP |
|
|
CA394572552 rs1463925971 |
1279 | A>D | No |
ClinGen TOPMed |
|
|
CA7870882 rs375515956 |
1282 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1285 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370863551 CA276974947 |
1286 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs943523654 CA276974946 |
1287 | Y>C | No |
ClinGen TOPMed |
|
|
rs763480855 CA7870877 |
1287 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA7870876 rs750878205 |
1289 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1439924451 CA394572387 |
1289 | D>N | No |
ClinGen TOPMed |
|
|
CA7870875 rs530150534 |
1293 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA394572309 rs776569230 |
1294 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776569230 CA7870873 |
1294 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394572290 rs768979927 |
1295 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs768979927 CA7870872 |
1295 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA394572263 rs1417697017 |
1296 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA276974909 rs888717225 |
1297 | S>G | No |
ClinGen TOPMed |
|
|
rs148729420 CA7870871 |
1297 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs192788160 CA7870870 |
1299 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs192788160 CA394572209 |
1299 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs368305972 CA7870867 |
1300 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770771235 CA7870866 |
1301 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA7870865 rs748891359 |
1302 | K>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1302 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7870863 rs777093117 |
1303 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1486414978 CA394572125 |
1304 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs755792053 CA394572117 CA7870862 |
1305 | H>Q | No |
ClinGen ExAC TOPMed |
|
|
rs1258134193 CA394572119 |
1305 | H>R | No |
ClinGen gnomAD |
|
|
CA7870860 rs752248079 |
1307 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1461540677 CA394572102 |
1308 | P>R | No |
ClinGen TOPMed |
|
|
rs1299789359 CA394572088 |
1310 | R>I | No |
ClinGen gnomAD |
|
|
rs144464713 CA7870857 |
1311 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144464713 CA394572083 |
1311 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201541852 CA7870858 |
1311 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs913886418 CA276974828 |
1313 | K>Q | No |
ClinGen Ensembl |
|
|
rs545884748 CA7870854 |
1314 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA394572058 rs915968908 |
1315 | P>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1315 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs915968908 CA276974805 |
1315 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1597131046 CA394572051 |
1316 | V>A | No |
ClinGen Ensembl |
|
| TCGA novel | 1316 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764041960 CA7870852 |
1316 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7870851 rs760974192 |
1318 | A>T | No |
ClinGen ExAC |
|
|
CA7870849 rs146352467 |
1319 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1422302651 CA394572020 |
1321 | R>G | No |
ClinGen gnomAD |
|
|
CA7870848 rs759474569 |
1321 | R>K | No |
ClinGen ExAC TOPMed |
|
|
CA7870847 rs774279006 |
1322 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA394572010 rs774279006 |
1322 | G>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1322 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1256363458 CA394572008 COSM970620 |
1323 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA394572007 rs149834476 |
1323 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7870846 rs149834476 |
1323 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394571986 rs1261735077 |
1326 | K>I | No |
ClinGen TOPMed |
|
|
CA7870845 rs749110041 |
1327 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs557051514 CA7870843 |
1329 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs772806621 CA7870844 |
1329 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA276974758 rs997578740 |
1330 | K>Q | No |
ClinGen TOPMed |
|
|
rs780861346 CA394571952 |
1331 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs754619679 CA7870839 |
1332 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754619679 CA394571949 |
1332 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394571931 rs1415016352 |
1334 | D>G | No |
ClinGen TOPMed |
|
|
CA7870837 rs199644950 |
1335 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA276974751 COSM3420986 rs374081146 |
1335 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD |
|
CA394571927 rs374081146 |
1335 | E>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA276974739 rs371323934 |
1338 | I>T | No |
ClinGen Ensembl |
|
|
CA7870836 rs757814677 |
1340 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA394571894 rs1402943117 |
1340 | E>K | No |
ClinGen gnomAD |
|
|
rs1451398810 CA394571883 |
1341 | A>V | No |
ClinGen TOPMed |
|
|
CA394571881 rs1411075318 |
1342 | N>H | No |
ClinGen gnomAD |
|
|
rs139504822 CA7870833 CA394571876 |
1342 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1167942428 CA394571878 |
1342 | N>S | No |
ClinGen gnomAD |
|
|
CA394571873 COSM1478870 rs1368722853 |
1343 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA7870832 rs752822315 |
1345 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394571857 rs752822315 |
1345 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7870831 rs767912207 |
1346 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1214106113 CA394571847 |
1347 | L>F | No |
ClinGen TOPMed |
|
|
rs200722281 CA7870829 |
1348 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200722281 CA394571840 |
1348 | N>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1458627244 CA394571834 |
1349 | V>A | No |
ClinGen gnomAD |
|
|
rs141625716 CA7870826 |
1349 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7870827 rs141625716 |
1349 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394571810 rs1194194706 |
1351 | K>T | No |
ClinGen gnomAD |
|
|
CA276974664 rs1030612865 |
1352 | S>G | No |
ClinGen Ensembl |
|
|
rs747722293 CA7870824 |
1352 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with O60503
Functions
| Description | ||
|---|---|---|
| EC Number | 4.6.1.1 | Phosphorus-oxygen lyases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| axon | The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter. |
| dendrite | A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| adenylate cyclase activity | Catalysis of the reaction: ATP = 3',5'-cyclic AMP + diphosphate. |
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| metal ion binding | Binding to a metal ion. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| adenylate cyclase-activating adrenergic receptor signaling pathway | An adenylate cyclase-activating G protein-coupled receptor signaling pathway initiated by a ligand binding to an adrenergic receptor on the surface of the target cell, and ending with the regulation of a downstream cellular process. |
| adenylate cyclase-activating G protein-coupled receptor signaling pathway | A G protein-coupled receptor signaling pathway in which the signal is transmitted via the activation of adenylyl cyclase activity and a subsequent increase in the intracellular concentration of cyclic AMP (cAMP). |
| cAMP biosynthetic process | The chemical reactions and pathways resulting in the formation of the nucleotide cAMP (cyclic AMP, adenosine 3',5'-cyclophosphate). |
| in utero embryonic development | The process whose specific outcome is the progression of the embryo in the uterus over time, from formation of the zygote in the oviduct, to birth. An example of this process is found in Mus musculus. |
| intracellular signal transduction | The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. |
| 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. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MASPPHQQLL | HHHSTEVSCD | SSGDSNSVRV | KINPKQLSSN | SHPKHCKYSI | SSSCSSSGDS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GGVPRRVGGG | GRLRRQKKLP | QLFERASSRW | WDPKFDSVNL | EEACLERCFP | QTQRRFRYAL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FYIGFACLLW | SIYFAVHMRS | RLIVMVAPAL | CFLLVCVGFF | LFTFTKLYAR | HYAWTSLALT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LLVFALTLAA | QFQVLTPVSG | RGDSSNLTAT | ARPTDTCLSQ | VGSFSMCIEV | LFLLYTVMHL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PLYLSLCLGV | AYSVLFETFG | YHFRDEACFP | SPGAGALHWE | LLSRGLLHGC | IHAIGVHLFV |
| 310 | 320 | 330 | 340 | 350 | 360 |
| MSQVRSRSTF | LKVGQSIMHG | KDLEVEKALK | ERMIHSVMPR | IIADDLMKQG | DEESENSVKR |
| 370 | 380 | 390 | 400 | 410 | 420 |
| HATSSPKNRK | KKSSIQKAPI | AFRPFKMQQI | EEVSILFADI | VGFTKMSANK | SAHALVGLLN |
| 430 | 440 | 450 | 460 | 470 | 480 |
| DLFGRFDRLC | EETKCEKIST | LGDCYYCVAG | CPEPRADHAY | CCIEMGLGMI | KAIEQFCQEK |
| 490 | 500 | 510 | 520 | 530 | 540 |
| KEMVNMRVGV | HTGTVLCGIL | GMRRFKFDVW | SNDVNLANLM | EQLGVAGKVH | ISEATAKYLD |
| 550 | 560 | 570 | 580 | 590 | 600 |
| DRYEMEDGKV | IERLGQSVVA | DQLKGLKTYL | ISGQRAKESR | CSCAEALLSG | FEVIDGSQVS |
| 610 | 620 | 630 | 640 | 650 | 660 |
| SGPRGQGTAS | SGNVSDLAQT | VKTFDNLKTC | PSCGITFAPK | SEAGAEGGAP | QNGCQDEHKN |
| 670 | 680 | 690 | 700 | 710 | 720 |
| STKASGGPNP | KTQNGLLSPP | QEEKLTNSQT | SLCEILQEKG | RWAGVSLDQS | ALLPLRFKNI |
| 730 | 740 | 750 | 760 | 770 | 780 |
| REKTDAHFVD | VIKEDSLMKD | YFFKPPINQF | SLNFLDQELE | RSYRTSYQEE | VIKNSPVKTF |
| 790 | 800 | 810 | 820 | 830 | 840 |
| ASPTFSSLLD | VFLSTTVFLT | LSTTCFLKYE | AATVPPPPAA | LAVFSAALLL | EVLSLAVSIR |
| 850 | 860 | 870 | 880 | 890 | 900 |
| MVFFLEDVMA | CTKRLLEWIA | GWLPRHCIGA | ILVSLPALAV | YSHVTSEYET | NIHFPVFTGS |
| 910 | 920 | 930 | 940 | 950 | 960 |
| AALIAVVHYC | NFCQLSSWMR | SSLATVVGAG | PLLLLYVSLC | PDSSVLTSPL | DAVQNFSSER |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| NPCNSSVPRD | LRRPASLIGQ | EVVLVFFLLL | LLVWFLNREF | EVSYRLHYHG | DVEADLHRTK |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| IQSMRDQADW | LLRNIIPYHV | AEQLKVSQTY | SKNHDSGGVI | FASIVNFSEF | YEENYEGGKE |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| CYRVLNELIG | DFDELLSKPD | YSSIEKIKTI | GATYMAASGL | NTAQAQDGSH | PQEHLQILFE |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| FAKEMMRVVD | DFNNNMLWFN | FKLRVGFNHG | PLTAGVIGTT | KLLYDIWGDT | VNIASRMDTT |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| GVECRIQVSE | ESYRVLSKMG | YDFDYRGTVN | VKGKGQMKTY | LYPKCTDHRV | IPQHQLSISP |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| DIRVQVDGSI | GRSPTDEIAN | LVPSVQYVDK | TSLGSDSSTQ | AKDAHLSPKR | PWKEPVKAEE |
| 1330 | 1340 | 1350 | |||
| RGRFGKAIEK | DDCDETGIEE | ANELTKLNVS | KSV |