Q9H5V8
PR
Gene name |
CDCP1 (TRASK, UNQ2486/PRO5773) |
Protein name |
CUB domain-containing protein 1 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:64866 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q9H5V8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9H5V8-F1 | Predicted | AlphaFoldDB |
636 variants for Q9H5V8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1218379074 CA352419124 |
2 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1279011913 CA352419118 |
3 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA2349122 rs759482398 |
3 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1279011913 CA352419120 |
3 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs770457570 CA2349120 |
7 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA2349121 rs774206313 |
7 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA2349118 rs112158839 |
8 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762402011 CA2349119 |
8 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352419084 rs1298957256 |
9 | S>T | No |
ClinGen gnomAD |
|
|
rs138685190 CA2349117 |
10 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA73569559 rs995516626 |
12 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs747525637 CA2349113 |
13 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352419054 rs1456689850 |
15 | V>F | No |
ClinGen TOPMed |
|
|
rs898599267 CA73569548 |
17 | L>R | No |
ClinGen Ensembl |
|
|
rs78109643 CA2349112 |
18 | L>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1395748764 CA352419038 |
18 | L>Q | No |
ClinGen gnomAD |
|
|
CA2349111 rs758597717 |
19 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1264354313 CA352419035 |
19 | G>S | No |
ClinGen gnomAD |
|
|
CA352419027 rs1438474130 |
20 | A>E | No |
ClinGen TOPMed |
|
|
CA352419030 rs1484478970 |
20 | A>T | No |
ClinGen gnomAD |
|
|
CA73569530 rs907434524 |
21 | A>V | No |
ClinGen Ensembl |
|
|
rs750480946 CA2349110 |
22 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352419016 rs750480946 |
22 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352419017 rs1200507770 |
22 | R>S | No |
ClinGen gnomAD |
|
|
CA352419006 rs529416242 |
24 | P>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs529416242 CA73569515 |
24 | P>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA352419007 rs1249503976 |
24 | P>S | No |
ClinGen gnomAD |
|
|
rs779066265 CA2349109 |
25 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1279841369 CA352418996 |
26 | G>E | No |
ClinGen gnomAD |
|
|
CA352418985 rs1353766411 |
28 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA352418986 rs1353766411 |
28 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs772698120 CA2349093 |
29 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs779062651 CA2349091 |
30 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757355705 CA2349090 |
32 | I>SG* | No |
ClinGen ExAC |
|
|
CA73593842 rs1006842093 |
33 | A>S | No |
ClinGen Ensembl |
|
|
CA2349088 rs757215878 |
33 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1423305 rs1290344770 CA352430724 |
34 | L>P | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1476254491 CA352430717 |
35 | P>Q | No |
ClinGen TOPMed |
|
|
CA2349087 rs749555063 |
36 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs777920511 CA2349086 |
36 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 37 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754818183 CA2349085 |
37 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA2349084 rs751326215 |
38 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA73593825 rs897292636 |
40 | I>F | No |
ClinGen Ensembl |
|
|
rs1377781588 CA352430687 |
40 | I>T | No |
ClinGen gnomAD |
|
|
CA2349083 rs370402641 |
41 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758347850 CA2349082 |
42 | V>F | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 42 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1338309605 CA352430675 |
43 | L>F | No |
ClinGen TOPMed |
|
|
rs761192073 CA2349079 |
44 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA2349080 rs147641675 |
44 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201428545 CA352430648 |
47 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201428545 CA2349077 |
47 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201428545 CA2349078 |
47 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs775980031 CA2349075 |
49 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746389718 CA352430633 |
50 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352430632 rs746389718 |
50 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2349073 rs746389718 |
50 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774679120 CA2349072 |
51 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2349069 rs138913446 |
53 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2349070 rs138913446 |
53 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA352430618 rs1204485165 |
54 | K>Q | No |
ClinGen TOPMed |
|
|
rs1482295575 CA352430587 |
58 | I>V | No |
ClinGen TOPMed |
|
|
CA73593766 rs947687308 |
59 | V>I | No |
ClinGen TOPMed |
|
|
rs779842644 CA2349066 |
61 | S>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 61 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2349065 rs752341136 |
62 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 63 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778669539 CA2349063 |
64 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA352430538 rs1232263256 |
65 | I>M | No |
ClinGen gnomAD |
|
|
CA73593748 rs1024849260 |
65 | I>T | No |
ClinGen TOPMed |
|
|
rs201301385 CA2349062 |
66 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA352430528 rs1262655442 |
67 | M>T | No |
ClinGen gnomAD |
|
|
CA2349061 rs201811527 |
70 | I>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA352430510 rs201811527 |
70 | I>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1438995922 CA352430480 |
74 | E>G | No |
ClinGen gnomAD |
|
|
CA2349060 rs763894303 |
75 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760413441 CA2349059 |
77 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1400245740 CA352430408 |
84 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1480653106 CA352430366 |
90 | V>I | No |
ClinGen TOPMed |
|
|
CA73593743 rs935171641 |
91 | I>T | No |
ClinGen TOPMed |
|
|
CA2349058 rs752331313 |
91 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1171196466 CA352430348 |
92 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 93 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767955745 CA2349057 |
93 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1490987287 CA352430328 |
95 | K>R | No |
ClinGen gnomAD |
|
|
CA352430312 rs1465087808 |
97 | I>T | No |
ClinGen TOPMed |
|
| TCGA novel | 97 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2349044 rs757125581 |
98 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA352430035 rs1478708107 |
99 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
CA352430033 rs1478708107 |
99 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA2349043 rs372597872 |
104 | C>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1275776258 CA352430000 |
104 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs372597872 CA2349042 |
104 | C>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA352429992 rs1559394343 |
105 | P>S | No |
ClinGen Ensembl |
|
|
CA352429976 rs1367745219 |
107 | G>A | No |
ClinGen TOPMed |
|
|
CA2349041 rs115241379 |
109 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed |
|
|
CA352429955 rs1472471304 CA352429954 |
110 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA73589874 rs554995721 |
114 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA352429929 rs554995721 |
114 | S>W | No |
ClinGen TOPMed gnomAD |
|
|
CA352429923 rs1261313753 |
115 | T>I | No |
ClinGen TOPMed |
|
|
rs1258029043 CA352429918 |
116 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs752419297 CA2349040 |
116 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352429919 rs1258029043 |
116 | S>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1484739936 CA352429911 |
117 | L>F | No |
ClinGen TOPMed |
|
|
CA2349037 rs751867858 |
121 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA352429799 rs765060175 |
133 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1302519848 CA352429786 |
135 | I>N | No |
ClinGen gnomAD |
|
|
CA2349034 rs773646845 |
136 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 137 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2349031 rs776963350 |
142 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA352429723 rs1331981101 |
143 | I>M | No |
ClinGen gnomAD |
|
|
rs768753665 CA2349030 |
143 | I>V | No |
ClinGen ExAC |
|
|
CA2349029 rs201931473 |
144 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs774026015 CA2349028 |
145 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2349027 rs370503753 |
145 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs777804665 CA2349025 |
147 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs62242538 CA73589788 |
150 | G>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs200013148 CA2349023 |
150 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs62242538 CA73589793 |
150 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2349024 rs62242538 |
150 | G>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA352429648 rs200013148 |
150 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2349022 rs144845427 |
151 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2349020 rs751165606 |
153 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA2349019 rs140716852 |
154 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2349017 rs750953767 |
155 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2349018 rs758726369 |
155 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs765714473 CA2349016 |
156 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA352429575 rs1247042304 |
157 | D>A | No |
ClinGen TOPMed |
|
|
CA2349014 rs149422328 |
158 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs764172918 CA2349013 |
159 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs760809315 CA2349012 |
160 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 164 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 165 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770872061 CA2349010 |
165 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200941796 CA2349008 |
166 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA2349007 rs564196123 |
166 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2349006 rs564196123 |
166 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1442079323 CA352429448 |
168 | D>A | No |
ClinGen gnomAD |
|
|
rs754445889 CA352429452 |
168 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs754445889 COSM1045152 CA2349004 |
168 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA352429432 rs1190954061 |
169 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1265924804 CA352429439 |
169 | A>T | No |
ClinGen gnomAD |
|
|
CA352429434 rs1190954061 |
169 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs897455366 CA73589656 |
170 | T>A | No |
ClinGen TOPMed |
|
|
rs779637766 CA2349002 |
171 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2349001 rs758814042 |
172 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA352429398 rs1410583151 |
173 | R>G | No |
ClinGen TOPMed |
|
|
rs765788136 CA2348999 |
175 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1300571185 CA352429340 |
179 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA2348997 rs754300803 |
180 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 181 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1576098588 CA352429328 |
181 | G>S | No |
ClinGen Ensembl |
|
|
CA2348992 rs202175025 |
185 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2348991 rs773129667 |
187 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1176013653 CA352429280 |
188 | M>I | No |
ClinGen gnomAD |
|
|
rs1298544938 CA352429284 |
188 | M>L | No |
ClinGen gnomAD |
|
|
rs769656203 CA352429274 |
189 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769656203 CA2348990 |
189 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768077161 CA2348987 |
192 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768077161 CA2348988 |
192 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs986968369 CA73589538 |
194 | M>I | No |
ClinGen TOPMed |
|
|
CA2348986 rs746508296 |
195 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA2348984 rs771696453 |
197 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2348983 rs745463570 |
200 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA2348982 rs141965879 |
202 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1553609887 CA2348980 |
204 | R>G | No |
ClinGen Ensembl |
|
|
rs113962722 CA73589503 |
206 | V>A | No |
ClinGen Ensembl |
|
|
COSM1247777 rs373169671 CA2348978 |
208 | G>S | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1340091161 CA352429126 |
211 | I>T | No |
ClinGen gnomAD |
|
|
rs541737948 CA2348976 |
212 | A>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs541737948 CA352429119 |
212 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs145582499 CA2348974 |
214 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs759853394 CA2348973 |
214 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146798463 CA2348971 |
217 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2348969 rs776485141 |
219 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2348949 rs763735142 |
221 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs146578482 CA2348948 |
221 | C>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA73588580 rs962533753 |
222 | I>L | No |
ClinGen TOPMed |
|
|
rs1245551496 CA352428798 |
224 | E>K | No |
ClinGen gnomAD |
|
|
CA352428778 rs1307630595 |
225 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 228 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352428719 rs1378371288 |
229 | G>D | No |
ClinGen gnomAD |
|
|
CA2348944 rs139531917 |
231 | G>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2348945 rs201630457 |
231 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA73588548 rs139531917 |
231 | G>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs770610226 CA2348943 |
233 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749672068 CA2348942 |
234 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA2348940 rs748696771 |
235 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352428639 rs1157586458 |
235 | L>P | No |
ClinGen gnomAD |
|
|
rs755161484 CA2348937 |
239 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2348936 rs747059350 |
240 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs951160056 CA73588524 |
240 | Y>H | No |
ClinGen TOPMed |
|
|
rs780210192 CA2348935 |
243 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352428545 rs780210192 |
243 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352428542 rs1210671621 |
244 | F>L | No |
ClinGen gnomAD |
|
|
CA73588520 rs867313581 |
248 | E>G | No |
ClinGen Ensembl |
|
|
CA73588519 rs900051919 |
249 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA352428457 rs1198512097 |
251 | T>M | No |
ClinGen TOPMed |
|
|
CA2348930 rs147169827 |
256 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147169827 CA352428387 |
256 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1576097171 CA352428342 |
259 | H>P | No |
ClinGen Ensembl |
|
|
rs767410451 CA2348929 |
259 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA73588503 rs904706335 |
261 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA2348927 rs185786853 |
261 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA352428301 rs1177001139 |
263 | S>G | No |
ClinGen TOPMed |
|
|
rs765748713 CA2348926 |
263 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs770219390 CA2348923 |
264 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs137935046 CA2348924 |
264 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs966425246 CA73588468 |
265 | S>C | No |
ClinGen TOPMed |
|
|
rs917372276 CA73588464 |
268 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1057432995 CA73588452 |
268 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1261359936 CA352428220 |
269 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 269 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2348922 rs553974292 |
270 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA352428198 rs553974292 |
270 | N>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1264382059 CA352428188 |
271 | L>V | No |
ClinGen TOPMed |
|
|
rs1488673964 CA352428153 |
273 | N>S | No |
ClinGen gnomAD |
|
|
rs1286876977 CA352428142 |
274 | C>R | No |
ClinGen gnomAD |
|
|
CA352428115 rs1326267444 |
275 | E>D | No |
ClinGen TOPMed |
|
|
rs559743984 CA2348919 |
280 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2348920 rs769283660 |
280 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs780183988 CA2348918 |
283 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA352427956 rs1159836867 |
286 | P>L | No |
ClinGen gnomAD |
|
|
CA352427924 rs1236808565 |
289 | T>S | No |
ClinGen gnomAD |
|
|
rs144577185 CA2348913 |
293 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2348912 rs754921342 |
296 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2348910 rs751386844 |
297 | L>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA73588313 rs1029424383 |
300 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 302 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2348909 rs201695787 |
303 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1385336995 CA352427719 |
304 | N>K | No |
ClinGen TOPMed |
|
|
CA2348908 rs762322803 |
306 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1576096923 CA352427696 |
308 | N>D | No |
ClinGen Ensembl |
|
|
rs1185593700 CA352427688 |
309 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 309 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2348905 rs762337459 |
314 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2348906 rs762337459 |
314 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352427654 rs1352263792 |
314 | Q>R | No |
ClinGen gnomAD |
|
|
rs777126436 CA2348904 |
316 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA2348903 rs769087346 |
320 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1284623770 CA352427613 |
320 | A>T | No |
ClinGen TOPMed |
|
|
CA352427586 rs1256956002 |
324 | G>W | No |
ClinGen gnomAD |
|
|
CA2348901 rs775807823 |
325 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2348899 rs766132794 |
327 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM224655 rs772240910 CA352427567 |
327 | R>W | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA352427558 rs1231660557 |
329 | Q>* | No |
ClinGen TOPMed |
|
|
rs1255796344 CA352427542 |
331 | Q>E | No |
ClinGen TOPMed |
|
|
CA73588276 rs149769993 |
331 | Q>L | No |
ClinGen ESP TOPMed |
|
|
CA352427536 rs1340936166 |
332 | V>I | No |
ClinGen gnomAD |
|
|
CA2348898 rs779259915 |
336 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2348897 rs771126292 |
337 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs928726101 CA73588257 |
341 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA2348879 rs774427266 |
343 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs770929965 CA2348878 |
344 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs998187220 CA73578747 |
344 | I>T | No |
ClinGen Ensembl |
|
|
rs982050648 CA73578726 |
345 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
rs749544450 CA2348877 |
345 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2348876 rs150523759 CA2348874 |
346 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2348875 rs150523759 |
346 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA352426601 rs1172313687 |
347 | V>I | No |
ClinGen TOPMed |
|
|
rs780108607 CA73578687 |
349 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 350 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758257582 CA2348872 |
351 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1559776890 CA352426559 |
352 | E>D | No |
ClinGen Ensembl |
|
|
CA352426565 rs1237375050 |
352 | E>K | No |
ClinGen gnomAD |
|
|
CA2348871 rs750320472 |
353 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs372469907 CA73578662 |
353 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372469907 CA2348870 |
353 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352426556 rs1576081744 |
354 | A>T | No |
ClinGen Ensembl |
|
|
rs1385544089 CA352426547 |
355 | M>T | No |
ClinGen Ensembl |
|
|
CA73578655 rs764420900 |
355 | M>V | No |
ClinGen Ensembl |
|
|
rs756775582 CA2348869 |
356 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs756775582 CA352426541 |
356 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs756775582 CA352426542 |
356 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA352426526 rs1449905851 |
358 | T>I | No |
ClinGen TOPMed |
|
|
CA352426531 rs1576081721 |
358 | T>P | No |
ClinGen Ensembl |
|
|
CA352426527 rs1449905851 |
358 | T>S | No |
ClinGen TOPMed |
|
|
rs1378947926 CA352426524 |
359 | I>V | No |
ClinGen gnomAD |
|
|
CA352426518 rs1436015382 |
360 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1025381285 CA73578648 |
361 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2348865 rs147504482 |
362 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1417996691 CA352426504 |
362 | R>W | No |
ClinGen gnomAD |
|
|
rs368595162 CA2348864 |
363 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2348862 rs752989056 |
364 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766470093 CA2348861 |
365 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA73578609 CA2348860 rs762998350 |
366 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199848700 CA2348858 |
368 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs768038620 CA2348857 |
368 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA73578589 rs768038620 |
368 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2348859 rs199848700 |
368 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200278905 CA73578588 |
369 | K>N | No |
ClinGen 1000Genomes |
|
|
CA2348856 rs775163711 |
371 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs938602154 CA73578587 |
371 | V>L | No |
ClinGen Ensembl |
|
|
rs760017941 CA73578583 |
373 | G>D | No |
ClinGen Ensembl |
|
|
CA2348853 rs148426340 |
376 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1332955059 CA352426375 |
379 | E>Q | No |
ClinGen TOPMed |
|
|
CA352426358 rs1346369099 |
380 | S>T | No |
ClinGen gnomAD |
|
|
rs1345319029 CA352426337 |
381 | R>Q | No |
ClinGen TOPMed |
|
|
CA352426329 rs1223099064 |
382 | T>S | No |
ClinGen gnomAD |
|
|
rs774338563 CA73578531 |
383 | C>G | No |
ClinGen Ensembl |
|
|
rs1285458526 CA352426312 |
383 | C>Y | No |
ClinGen gnomAD |
|
|
rs1398151716 CA352426278 |
385 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA352426273 rs1359992238 |
385 | S>N | No |
ClinGen gnomAD |
|
|
rs1272493694 CA352426256 |
386 | N>T | No |
ClinGen TOPMed |
|
|
CA352426172 rs1339066971 |
391 | S>C | No |
ClinGen TOPMed |
|
|
rs748799168 CA2348848 |
393 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA352426133 rs1218418493 |
394 | K>T | No |
ClinGen TOPMed |
|
|
rs1439490300 CA352426123 |
395 | H>D | No |
ClinGen TOPMed |
|
|
CA352426126 rs1439490300 |
395 | H>N | No |
ClinGen TOPMed |
|
|
CA73578510 rs763144842 |
395 | H>R | No |
ClinGen Ensembl |
|
|
CA352426095 rs1325967250 |
396 | K>N | No |
ClinGen TOPMed |
|
|
rs371282306 CA2348845 |
403 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 406 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs367847834 CA2348844 |
406 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352425854 rs1218035948 |
410 | N>S | No |
ClinGen TOPMed |
|
|
CA352425803 rs1325425487 |
413 | K>T | No |
ClinGen gnomAD |
|
|
CA2348842 rs752110191 |
414 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs763088238 CA2348840 |
415 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA2348839 rs763088238 |
415 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2348822 rs758922317 |
416 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA73577439 rs781414038 |
419 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs750865954 CA2348821 |
421 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352425448 rs1260227611 |
421 | R>W | No |
ClinGen TOPMed |
|
|
rs1299562853 CA352425372 |
425 | R>K | No |
ClinGen gnomAD |
|
|
rs1367361848 CA352425337 |
427 | S>T | No |
ClinGen gnomAD |
|
|
CA2348818 rs761907359 |
430 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA2348817 rs754043689 |
435 | D>A | No |
ClinGen ExAC |
|
| TCGA novel | 435 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2348814 rs774299510 |
436 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA2348815 rs774299510 |
436 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs764369401 CA2348816 |
436 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2348813 rs770782119 |
437 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs763015423 CA2348812 |
437 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA2348811 rs773153075 |
438 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769237815 CA352425153 |
438 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2348809 rs747664843 |
440 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1179920992 CA352425136 |
440 | P>T | No |
ClinGen TOPMed |
|
|
rs1362195722 CA352425105 |
443 | L>M | No |
ClinGen gnomAD |
|
|
CA352425095 rs1307746005 |
444 | H>L | No |
ClinGen gnomAD |
|
| TCGA novel | 453 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352425033 rs1478008910 |
453 | P>R | No |
ClinGen TOPMed |
|
| TCGA novel | 453 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA73577392 rs902944525 |
454 | K>E | No |
ClinGen TOPMed |
|
|
CA352425028 rs1336735195 |
454 | K>R | No |
ClinGen gnomAD |
|
|
rs746609021 CA2348806 |
455 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1421004443 CA352424996 |
459 | L>M | No |
ClinGen TOPMed |
|
|
rs1576079603 CA352424976 |
462 | V>G | No |
ClinGen Ensembl |
|
|
CA2348802 rs142637778 |
462 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352424974 rs1157977301 |
463 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1157977301 CA352424973 |
463 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA352424964 rs1470357346 |
464 | A>G | No |
ClinGen gnomAD |
|
|
rs1196565409 CA352424940 |
468 | Q>* | No |
ClinGen gnomAD |
|
|
CA352424927 rs1311558145 |
469 | Q>H | No |
ClinGen TOPMed |
|
|
rs757345348 CA2348801 |
472 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs915614611 CA73577368 |
473 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA2348799 rs370335828 |
473 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs894030466 CA73577364 |
474 | K>E | No |
ClinGen Ensembl |
|
|
CA352424888 rs557807111 |
475 | P>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2348798 rs557807111 |
475 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs376021215 CA73577358 |
480 | F>S | No |
ClinGen ESP |
|
|
CA352424836 rs757039550 |
482 | Y>* | No |
ClinGen gnomAD |
|
|
CA352424839 rs1576079521 |
482 | Y>S | No |
ClinGen Ensembl |
|
|
rs752926248 CA352424833 |
483 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752926248 CA2348797 |
483 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 484 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 487 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352424806 rs1231590890 |
487 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2348793 rs769767675 |
488 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs935707647 CA73577326 |
489 | P>S | No |
ClinGen gnomAD |
|
|
rs761288515 CA2348792 |
490 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1218213071 CA352424781 |
491 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA2348790 rs186260548 |
492 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs776220312 CA2348791 |
492 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA352424752 rs746698663 |
495 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs977601758 CA73577315 |
496 | G>S | No |
ClinGen Ensembl |
|
|
CA2348788 rs374678265 |
497 | S>F | Variant assessed as Somatic; 0.0001386 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2348786 rs151274061 |
500 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1200425070 CA352424715 |
501 | G>A | No |
ClinGen gnomAD |
|
|
rs757793970 CA352424710 |
502 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2348784 rs757793970 |
502 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757793970 CA352424709 |
502 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749688848 CA2348783 |
503 | S>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2348782 rs143267287 |
504 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1300394326 CA352424700 |
504 | I>T | No |
ClinGen TOPMed |
|
|
CA73577288 rs987987468 |
504 | I>V | No |
ClinGen TOPMed |
|
|
CA2348781 rs756213496 |
505 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1275632759 CA352424690 |
506 | Q>E | No |
ClinGen TOPMed |
|
|
rs1369907963 CA352424648 |
511 | Q>H | No |
ClinGen TOPMed |
|
|
rs1330961652 CA352424626 |
514 | S>L | No |
ClinGen gnomAD |
|
|
CA2348779 rs767817729 |
515 | V>G | No |
ClinGen ExAC |
|
|
CA2348778 rs758194418 |
516 | T>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 517 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs985884743 CA73577280 |
518 | R>C | No |
ClinGen Ensembl |
|
|
rs750220191 CA2348777 |
518 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs761817189 CA2348776 |
519 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs761817189 CA2348775 |
519 | T>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs557036575 CA2348773 |
520 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2348772 rs535446096 |
521 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1028987642 CA73577257 |
521 | A>S | No |
ClinGen TOPMed |
|
|
CA2348771 rs535446096 |
521 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA352424574 rs957292308 |
522 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1169584419 CA352424563 |
522 | P>L | No |
ClinGen gnomAD |
|
|
rs957292308 CA73577248 |
522 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1559775777 CA352424548 |
523 | S>N | No |
ClinGen Ensembl |
|
|
CA352424545 COSM145217 rs1452043530 |
523 | S>R | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA2348769 rs745451429 |
525 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs3749191 CA352424510 |
525 | Q>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_025498 rs3749191 CA2348768 |
525 | Q>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1440795723 CA352424468 |
527 | E>D | No |
ClinGen TOPMed |
|
|
rs199965821 CA73577232 |
528 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2348766 rs199965821 |
528 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2348767 rs199965821 |
528 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2348765 rs778400967 |
528 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1244269384 CA352424440 |
529 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2348763 rs200629679 |
529 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA352424419 rs1461309974 |
531 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs781622652 CA2348761 |
532 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1184899572 CA352424397 |
532 | G>V | No |
ClinGen Ensembl |
|
|
rs371285218 CA2348760 |
534 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2348759 rs371285218 |
534 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352424306 rs1349756831 |
538 | I>K | No |
ClinGen TOPMed |
|
|
CA2348758 rs367846568 |
540 | Y>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1291579061 CA352424264 |
541 | F>L | No |
ClinGen TOPMed |
|
|
CA352424254 rs1214607942 |
541 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1417081956 CA352424186 |
545 | G>S | No |
ClinGen TOPMed |
|
|
CA2348740 rs200580746 |
546 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs959221102 CA73576225 |
548 | T>M | No |
ClinGen gnomAD |
|
|
CA352424152 rs1407683089 |
550 | T>I | No |
ClinGen gnomAD |
|
|
CA73576220 rs967280089 |
550 | T>P | No |
ClinGen TOPMed |
|
|
CA2348736 rs777482228 |
553 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA2348737 rs753630080 |
553 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1418037849 CA352424133 |
554 | K>E | No |
ClinGen TOPMed |
|
|
CA352424120 rs1221003551 |
555 | S>I | No |
ClinGen gnomAD |
|
|
CA352424084 rs1490380234 CA352424085 |
560 | R>S | No |
ClinGen gnomAD |
|
|
rs866609350 CA73576212 |
565 | D>N | No |
ClinGen Ensembl |
|
|
CA2348734 rs554090714 |
566 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA2348735 rs532152615 |
566 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1042299738 CA73576207 |
567 | G>D | No |
ClinGen gnomAD |
|
|
CA2348730 rs765934457 |
572 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 572 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352423876 rs1346253085 |
576 | W>C | No |
ClinGen gnomAD |
|
|
COSM3408683 rs773715040 CA2348728 |
580 | V>M | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs763579370 CA2348727 |
583 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1559775075 CA352423736 |
585 | V>M | No |
ClinGen Ensembl |
|
|
CA352423721 rs1426725493 |
586 | A>S | No |
ClinGen gnomAD |
|
|
CA2348726 rs762431242 |
587 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
TCGA novel rs776104736 CA73576200 |
589 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen Ensembl |
|
CA2348722 rs747034363 |
594 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2348723 rs564538897 |
594 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145933687 CA2348720 |
595 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs35353149 CA352423565 |
596 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs35353149 CA2348719 RCV000883911 |
596 | G>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs755865664 CA2348717 |
597 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2348716 rs752672562 |
600 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs780970552 CA2348715 |
601 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs375072935 CA2348713 |
603 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs375072935 CA2348714 |
603 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762706915 CA352423468 |
604 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762706915 CA2348711 |
604 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs542306283 CA352423454 |
606 | M>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs542306283 COSM1045145 CA2348709 |
606 | M>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA352423417 rs1176214160 |
611 | Q>* | No |
ClinGen gnomAD |
|
|
rs762235076 CA2348708 |
611 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1167631536 CA352423407 |
612 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs777241158 CA2348707 |
612 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2348706 rs769027255 |
613 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs772660219 CA2348705 |
614 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA352423398 COSM3714633 rs1262291486 |
614 | R>W | upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs772094762 CA2348703 |
617 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 621 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368493580 CA73576151 CA352423257 |
622 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs574793682 CA2348700 |
623 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA73576145 rs150012991 COSM107576 |
627 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA2348699 rs747926511 |
628 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA2348696 rs746904977 |
631 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA2348694 rs757940178 |
634 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs757940178 CA352423061 |
634 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA2348693 rs147957477 |
635 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1407756591 CA352423026 |
636 | F>Y | No |
ClinGen gnomAD |
|
|
CA2348692 rs764957540 |
638 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1280844385 CA352422994 |
638 | V>L | No |
ClinGen TOPMed |
|
|
CA73576134 rs991920595 |
639 | N>S | No |
ClinGen Ensembl |
|
|
rs1373127443 CA352422939 |
643 | C>R | No |
ClinGen gnomAD |
|
|
rs1486522916 CA352422929 |
644 | S>N | No |
ClinGen TOPMed |
|
| TCGA novel | 645 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2348691 rs370295626 |
646 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352422914 rs370295626 |
646 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2348688 rs542744518 |
648 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs747723027 CA2348687 |
656 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352422825 rs1480453347 |
660 | T>S | No |
ClinGen gnomAD |
|
|
rs774614763 CA2348684 |
662 | R>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 662 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs139508827 CA2348682 |
662 | R>S | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs947889514 CA73571600 |
666 | L>F | No |
ClinGen TOPMed |
|
|
rs143988837 CA2348660 |
667 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143988837 CA2348659 COSM308368 |
667 | T>S | kidney [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs745729866 CA2348658 |
669 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs778592905 CA2348657 |
670 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2348656 rs770438468 |
671 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs144019903 CA2348654 |
672 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1204881045 CA352422746 |
672 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs35428731 CA352422740 |
673 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 673 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs35428731 VAR_055095 CA2348653 |
673 | A>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1176168348 CA352422724 |
676 | G>C | No |
ClinGen TOPMed |
|
|
CA352422723 rs1221275841 |
676 | G>D | No |
ClinGen gnomAD |
|
|
rs1256218534 CA352422717 |
677 | G>V | No |
ClinGen TOPMed |
|
|
CA2348649 rs752012611 |
680 | L>M | No |
ClinGen ExAC |
|
|
CA2348647 rs141553746 |
683 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 683 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1317594843 CA352422673 |
685 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA73571512 rs566326539 |
685 | G>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs566326539 CA352422674 |
685 | G>W | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA73571510 rs202099488 |
686 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2348644 rs202099488 |
686 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs373586286 CA73571509 |
687 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352422662 rs1334489637 |
687 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs373586286 CA2348643 |
687 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs532733195 CA2348642 |
688 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs771947469 CA2348641 |
690 | C>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 693 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1444437435 | 694 | K>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352422436 rs1576071877 |
696 | K>N | No |
ClinGen Ensembl |
|
|
CA352422446 rs1576071882 |
696 | K>Q | No |
ClinGen Ensembl |
|
|
CA2348624 rs757511384 |
698 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA2348623 rs754077023 |
699 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs767464350 CA2348621 |
700 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA2348618 rs774491482 |
703 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766336645 CA2348617 |
704 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352422326 rs1171235882 |
705 | G>D | No |
ClinGen TOPMed |
|
|
rs1171235882 CA352422322 |
705 | G>V | No |
ClinGen TOPMed |
|
|
CA352422310 rs1383234164 |
706 | I>T | No |
ClinGen gnomAD |
|
|
rs1285777271 CA352422294 |
707 | Y>C | No |
ClinGen gnomAD |
|
|
rs9874077 CA352422261 |
709 | D>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2348616 rs9874077 VAR_025499 |
709 | D>G | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA352422268 rs1576071802 |
709 | D>N | No |
ClinGen Ensembl |
|
|
CA352422255 rs9874077 |
709 | D>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs772792426 CA2348615 |
710 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs769135981 CA2348614 |
713 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA2348612 rs376427211 |
714 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2348613 rs376427211 |
714 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769056931 CA2348611 |
715 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2348610 rs373284410 |
716 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352422144 rs373284410 |
716 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2348608 rs758945186 |
718 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1195977802 CA352422106 |
719 | P>S | No |
ClinGen gnomAD |
|
|
CA2348607 rs202014054 |
720 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs996636242 CA73569741 |
721 | K>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 722 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA73569738 rs367974596 |
724 | K>E | No |
ClinGen ESP TOPMed |
|
|
CA2348606 rs779084978 |
725 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1032867538 CA73569731 |
725 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs754165008 CA2348604 |
726 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1221615469 CA352422041 |
727 | K>N | No |
ClinGen gnomAD |
|
|
rs754888709 CA2348602 |
729 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA352422025 rs1221872997 |
730 | D>N | No |
ClinGen gnomAD |
|
|
rs778076161 CA73569715 |
731 | S>C | No |
ClinGen Ensembl |
|
|
rs1257816137 CA352422016 |
731 | S>P | No |
ClinGen TOPMed |
|
|
rs1371376369 CA352422010 |
732 | H>Y | No |
ClinGen gnomAD |
|
|
rs766030902 CA2348600 |
733 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA2348601 rs751407479 |
733 | V>M | No |
ClinGen ExAC |
|
|
rs1483703994 CA352421989 |
735 | A>E | No |
ClinGen TOPMed |
|
|
CA2348597 rs764842004 |
738 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2348596 rs761287588 |
742 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776322815 CA2348595 |
745 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352421907 rs1319575511 |
748 | Q>K | No |
ClinGen gnomAD |
|
|
rs141086872 CA2348592 |
749 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2348593 rs141086872 |
749 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs767848169 CA352421881 |
751 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2348589 rs779270740 |
752 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA2348590 rs201971199 |
752 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2348586 rs749378300 |
753 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs757473509 CA2348587 |
753 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA352421850 rs1284753748 |
757 | P>T | No |
ClinGen gnomAD |
|
|
rs1300663404 CA352421832 |
759 | V>A | No |
ClinGen TOPMed |
|
|
rs1300663404 CA352421831 |
759 | V>G | No |
ClinGen TOPMed |
|
|
rs752814255 CA352421825 |
760 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA2348583 rs756420133 |
760 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA352421822 rs1222997012 |
761 | T>A | No |
ClinGen gnomAD |
|
|
rs1222997012 CA352421823 |
761 | T>P | No |
ClinGen gnomAD |
|
|
rs779931585 CA2348581 |
762 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs60698062 RCV000974180 CA2348579 |
763 | R>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs758096347 CA2348580 |
763 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs570761435 CA2348578 |
764 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1576071495 CA352421800 |
765 | F>V | No |
ClinGen Ensembl |
|
|
rs763532266 CA2348575 |
767 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA352421775 rs1175003868 |
769 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs760338935 CA2348574 |
770 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1576071463 CA352421759 |
771 | V>G | No |
ClinGen Ensembl |
|
|
CA2348572 rs772540894 |
771 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1242479831 CA352421755 |
772 | C>R | No |
ClinGen gnomAD |
|
|
CA2348571 rs759808544 |
772 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA352421737 rs1466375501 |
775 | S>T | No |
ClinGen gnomAD |
|
|
CA2348569 rs552360165 |
779 | I>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs537258695 CA73569613 |
781 | S>F | No |
ClinGen 1000Genomes |
|
|
CA2348568 rs749757404 |
782 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352421692 rs1303558006 |
782 | R>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA352421686 rs1213322874 |
783 | A>S | No |
ClinGen gnomAD |
|
|
rs1298727242 CA352421675 |
785 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs769955389 CA2348566 |
786 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1403394566 CA352421648 |
789 | A>S | No |
ClinGen gnomAD |
|
|
CA352421620 rs1173158664 |
793 | P>S | No |
ClinGen gnomAD |
|
|
rs371469220 CA2348565 |
796 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs371469220 CA73569602 |
796 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2348564 rs758270201 |
796 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs758270201 CA2348563 |
796 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2348562 rs548291997 |
798 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs778609727 CA2348561 |
799 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA73569569 rs780624809 |
805 | P>A | No |
ClinGen gnomAD |
|
|
rs529640107 CA2348559 |
805 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs959285718 CA73569563 |
806 | Y>H | No |
ClinGen Ensembl |
|
|
rs760085041 CA2348557 |
807 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760085041 CA73569540 |
807 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2348556 rs752457117 |
809 | S>Y | No |
ClinGen ExAC |
|
|
CA352421514 rs1307362420 |
810 | H>Q | No |
ClinGen gnomAD |
|
|
rs767074979 CA2348555 |
811 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2348554 rs759164289 |
812 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774593479 CA2348553 |
814 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352421485 rs1314842714 |
815 | D>Y | No |
ClinGen gnomAD |
|
|
CA352421477 rs1396244004 |
816 | V>L | No |
ClinGen gnomAD |
|
|
CA2348551 rs771375160 |
817 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352421465 rs1461048080 |
818 | S>G | No |
ClinGen gnomAD |
|
|
CA2348550 rs200510710 |
821 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773825282 CA2348549 |
823 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA73569473 rs1021006576 |
828 | T>I | No |
ClinGen Ensembl |
|
|
rs202022891 CA73569470 |
829 | Q>* | No |
ClinGen Ensembl |
|
|
CA2348548 rs770043083 |
829 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA2348547 rs201458649 |
831 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2348542 rs778699720 |
832 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA2348545 rs369387897 CA2348544 |
832 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2348543 rs747191639 |
832 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs369387897 CA73569452 |
832 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1221338723 CA352421263 |
833 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1268605285 CA352421233 |
835 | A>T | No |
ClinGen gnomAD |
|
|
rs1299622762 CA352421212 |
836 | E>A | No |
ClinGen TOPMed |
No associated diseases with Q9H5V8
1 regional properties for Q9H5V8
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | CCZ1/INTU/HSP4, first Longin domain | 4 - 113 | IPR043987 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAGLNCGVSI | ALLGVLLLGA | ARLPRGAEAF | EIALPRESNI | TVLIKLGTPT | LLAKPCYIVI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SKRHITMLSI | KSGERIVFTF | SCQSPENHFV | IEIQKNIDCM | SGPCPFGEVQ | LQPSTSLLPT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LNRTFIWDVK | AHKSIGLELQ | FSIPRLRQIG | PGESCPDGVT | HSISGRIDAT | VVRIGTFCSN |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GTVSRIKMQE | GVKMALHLPW | FHPRNVSGFS | IANRSSIKRL | CIIESVFEGE | GSATLMSANY |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PEGFPEDELM | TWQFVVPAHL | RASVSFLNFN | LSNCERKEER | VEYYIPGSTT | NPEVFKLEDK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QPGNMAGNFN | LSLQGCDQDA | QSPGILRLQF | QVLVQHPQNE | SNKIYVVDLS | NERAMSLTIE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PRPVKQSRKF | VPGCFVCLES | RTCSSNLTLT | SGSKHKISFL | CDDLTRLWMN | VEKTISCTDH |
| 430 | 440 | 450 | 460 | 470 | 480 |
| RYCQRKSYSL | QVPSDILHLP | VELHDFSWKL | LVPKDRLSLV | LVPAQKLQQH | THEKPCNTSF |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SYLVASAIPS | QDLYFGSFCP | GGSIKQIQVK | QNISVTLRTF | APSFQQEASR | QGLTVSFIPY |
| 550 | 560 | 570 | 580 | 590 | 600 |
| FKEEGVFTVT | PDTKSKVYLR | TPNWDRGLPS | LTSVSWNISV | PRDQVACLTF | FKERSGVVCQ |
| 610 | 620 | 630 | 640 | 650 | 660 |
| TGRAFMIIQE | QRTRAEEIFS | LDEDVLPKPS | FHHHSFWVNI | SNCSPTSGKQ | LDLLFSVTLT |
| 670 | 680 | 690 | 700 | 710 | 720 |
| PRTVDLTVIL | IAAVGGGVLL | LSALGLIICC | VKKKKKKTNK | GPAVGIYNDN | INTEMPRQPK |
| 730 | 740 | 750 | 760 | 770 | 780 |
| KFQKGRKDND | SHVYAVIEDT | MVYGHLLQDS | SGSFLQPEVD | TYRPFQGTMG | VCPPSPPTIC |
| 790 | 800 | 810 | 820 | 830 | |
| SRAPTAKLAT | EEPPPRSPPE | SESEPYTFSH | PNNGDVSSKD | TDIPLLNTQE | PMEPAE |