Q9H720
PR
Gene name |
CWH43 (PGAP2IP) |
Protein name |
PGAP2-interacting protein |
Names |
Cell wall biogenesis protein 43 C-terminal homolog |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:80157 |
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 Q9H720
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9H720-F1 | Predicted | AlphaFoldDB |
630 variants for Q9H720
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs3747690 CA2916468 VAR_039234 |
2 | P>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1193026349 CA356846934 COSM3825942 |
3 | S>L | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1482170306 CA356846924 |
3 | S>T | No |
ClinGen gnomAD |
|
|
rs750687657 CA2916472 |
4 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1430770058 CA356847010 |
5 | W>C | No |
ClinGen gnomAD |
|
|
CA356846991 rs1392484917 |
5 | W>L | No |
ClinGen gnomAD |
|
|
CA356847028 rs1167628824 |
6 | R>K | No |
ClinGen gnomAD |
|
|
rs756338452 CA356847111 |
8 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA2916473 rs756338452 |
8 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA356847142 rs1293621277 |
9 | L>I | No |
ClinGen gnomAD |
|
|
CA356847333 rs1490803420 |
14 | L>P | No |
ClinGen TOPMed |
|
|
rs1342675165 CA356847343 |
15 | G>* | No |
ClinGen gnomAD |
|
|
CA356847693 rs1421651848 |
16 | C>F | No |
ClinGen gnomAD |
|
|
CA356847720 rs1388656511 |
17 | V>F | No |
ClinGen gnomAD |
|
|
rs1456691041 CA356847751 |
18 | S>F | No |
ClinGen gnomAD |
|
|
rs755046724 CA2916500 |
20 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356847808 rs755046724 |
20 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1384898542 CA356847867 |
23 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1577647202 CA356847887 |
23 | H>Q | No |
ClinGen Ensembl |
|
| TCGA novel | 26 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356847963 rs1448452094 |
26 | G>E | No |
ClinGen gnomAD |
|
| TCGA novel | 26 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2916501 rs370635335 |
27 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM110108 rs138006472 CA96747742 |
27 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
| TCGA novel | 28 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1231612117 CA356848067 |
30 | Y>C | No |
ClinGen gnomAD |
|
|
rs757248760 CA2916503 |
31 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781090312 CA2916504 |
32 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs141376548 CA2916506 |
34 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2916510 rs773931611 |
38 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1183877322 CA356848384 |
42 | L>P | No |
ClinGen gnomAD |
|
|
rs773835347 CA2916513 |
45 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1156914014 CA356848453 |
46 | S>R | No |
ClinGen gnomAD |
|
| TCGA novel | 46 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1427207092 CA356848457 |
47 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2916514 rs760987937 |
47 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA356848455 rs1427207092 |
47 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA356848602 rs1263037689 |
53 | I>T | No |
ClinGen TOPMed |
|
|
rs1322106360 CA356848592 |
53 | I>V | No |
ClinGen TOPMed |
|
|
CA2916518 rs764506256 |
59 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356848738 rs764506256 |
59 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2916519 rs764506256 |
59 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755174263 CA2916517 |
59 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2916520 rs758445053 |
60 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs548931558 CA2916522 |
61 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs781159033 CA2916521 |
61 | W>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2916527 rs527841906 CA2916525 |
65 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs779833322 CA2916524 |
65 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs747699030 CA2916528 |
66 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA356848918 rs1482494590 |
67 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA2916531 rs773876093 |
67 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356848915 rs1482494590 |
67 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1177035226 CA356848945 |
68 | W>R | No |
ClinGen TOPMed |
|
|
rs994483664 CA96747815 |
69 | M>V | No |
ClinGen TOPMed |
|
|
rs771200282 CA2916532 |
70 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs776991945 CA2916533 |
71 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA356849019 rs776991945 |
71 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1393084201 CA356849071 |
74 | R>K | No |
ClinGen gnomAD |
|
|
CA356849094 rs1168940097 |
75 | I>V | No |
ClinGen gnomAD |
|
|
CA2916536 rs752897212 |
76 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA356849152 rs1409371208 |
77 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 77 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757470916 CA2916538 |
78 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000956195 CA2916537 rs77901175 |
78 | I>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2916556 rs759998013 |
79 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1266822329 CA356850557 |
81 | I>K | No |
ClinGen gnomAD |
|
|
rs763096580 CA2916559 |
82 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775723048 CA2916558 |
82 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs375072228 CA2916560 |
86 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2916561 rs751719684 |
88 | N>H | No |
ClinGen ExAC |
|
|
rs1482278070 CA356850783 |
89 | A>G | No |
ClinGen gnomAD |
|
|
rs567950623 CA2916562 |
91 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs567950623 CA356850807 |
91 | L>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs149499062 CA2916563 |
92 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753694972 CA2916564 |
92 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2916565 rs753694972 |
92 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778807710 CA2916566 |
93 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA2916567 rs781682628 |
93 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356850881 rs1321802144 |
94 | M>T | No |
ClinGen gnomAD |
|
|
rs758062886 CA2916568 |
94 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1384760955 CA356850912 |
95 | V>A | No |
ClinGen gnomAD |
|
|
rs777273130 CA2916569 |
96 | L>I | No |
ClinGen ExAC |
|
|
CA2916570 rs746573645 COSM1642485 |
97 | A>V | stomach Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA356851014 rs1340705186 |
99 | G>R | No |
ClinGen gnomAD |
|
|
CA356851044 rs781735117 |
100 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA2916572 rs781735117 |
100 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA2916574 rs770150995 |
104 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1267397413 CA356851148 |
105 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs775774409 CA2916575 |
106 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs202171691 CA96748577 |
106 | V>L | No |
ClinGen Ensembl |
|
|
rs1201992070 CA356851189 |
107 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA356851209 rs1256509752 |
107 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA2916576 rs749640430 |
110 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1187477295 CA356851297 |
111 | W>C | No |
ClinGen gnomAD |
|
|
CA356851327 rs1415857655 |
113 | S>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2916577 rs768932569 |
114 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 119 | R>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2916580 rs767444860 |
119 | R>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs550223498 CA2916601 |
122 | R>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1231847851 CA356851595 |
123 | I>M | No |
ClinGen gnomAD |
|
|
CA2916602 rs765329114 |
125 | G>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356851630 rs1344600940 |
125 | G>E | No |
ClinGen gnomAD |
|
|
rs765329114 CA356851626 |
125 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 130 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA96748691 rs773192313 |
130 | Q>H | No |
ClinGen Ensembl |
|
|
rs775550836 CA2916603 |
130 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs762866902 CA2916605 |
134 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762866902 CA356851709 |
134 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1276347309 CA356851715 |
135 | V>L | No |
ClinGen gnomAD |
|
|
CA356851722 rs146104899 |
136 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA2916607 rs146104899 |
136 | L>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2916609 rs767186935 COSM1671016 |
137 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs750002003 COSM280239 CA2916610 |
137 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA356851727 rs750002003 |
137 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356851733 rs1293562722 |
138 | I>M | No |
ClinGen gnomAD |
|
|
rs755589319 CA2916611 |
138 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356851729 rs1352301573 |
138 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 139 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749744886 CA2916613 |
140 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780587094 CA2916612 |
140 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs1299625658 CA356851766 |
141 | T>I | No |
ClinGen gnomAD |
|
|
CA356851819 rs1560484290 |
145 | P>L | No |
ClinGen Ensembl |
|
|
rs771209184 CA2916616 |
146 | I>* | No |
ClinGen ExAC |
|
| TCGA novel | 150 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748413043 CA2916617 |
151 | M>V | No |
ClinGen ExAC |
|
| TCGA novel | 152 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1223902357 CA356851981 |
155 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs368038070 CA96748714 |
156 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs924954674 CA96748717 |
159 | L>* | No |
ClinGen TOPMed |
|
|
CA356852046 rs1453731310 |
160 | S>C | No |
ClinGen TOPMed |
|
|
rs1364861134 CA356852070 |
161 | A>V | No |
ClinGen TOPMed |
|
|
rs936381805 CA96748722 |
162 | I>T | No |
ClinGen TOPMed |
|
|
CA356852093 rs1212350159 |
163 | A>D | No |
ClinGen gnomAD |
|
|
CA356852110 rs1250363887 |
164 | T>K | No |
ClinGen gnomAD |
|
|
CA356852116 rs1474244607 |
165 | L>F | No |
ClinGen TOPMed |
|
|
CA2916621 COSM1694359 rs771090704 |
167 | R>C | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs371671107 CA2916622 |
167 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA356852145 rs371671107 |
167 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2916623 rs762735118 |
168 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1425116668 CA356852171 |
169 | G>V | No |
ClinGen gnomAD |
|
|
CA2916624 rs768511693 |
170 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs774073308 CA2916625 |
171 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs772880873 CA2916645 |
172 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2916644 rs771804892 |
172 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 174 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356852954 rs1223701958 |
174 | C>Y | No |
ClinGen gnomAD |
|
|
CA356853010 rs1577653832 |
177 | P>L | No |
ClinGen Ensembl |
|
|
CA96749070 rs762978917 |
177 | P>T | No |
ClinGen Ensembl |
|
|
rs369801723 CA2916647 |
178 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 179 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2916649 rs759078197 |
179 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs184009054 CA2916651 |
183 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2916653 rs371832961 |
184 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1577653877 CA356853145 |
185 | V>L | No |
ClinGen Ensembl |
|
|
rs757613110 CA2916655 |
187 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1414805266 CA356853200 |
188 | G>E | No |
ClinGen gnomAD |
|
|
rs745975176 CA2916657 |
188 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778737042 CA2916659 |
190 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA2916658 rs369610807 |
190 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 196 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 197 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2916664 rs377675320 |
198 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 201 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356853413 rs759013519 |
201 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs759013519 CA2916666 |
201 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA356853417 rs1226059620 |
201 | A>V | No |
ClinGen TOPMed |
|
|
rs764768646 CA2916667 |
204 | S>C | No |
ClinGen ExAC |
|
|
rs1279971333 CA356853494 |
206 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs774232549 CA96749086 |
207 | F>S | No |
ClinGen Ensembl |
|
|
rs763498154 CA2916669 |
209 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763498154 CA2916670 |
209 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA96749090 rs916867861 |
210 | H>D | No |
ClinGen TOPMed |
|
|
CA356853561 rs916867861 |
210 | H>Y | No |
ClinGen TOPMed |
|
|
rs1577654003 CA356853607 |
212 | V>G | No |
ClinGen Ensembl |
|
|
rs1560485661 COSM1429963 CA356853657 |
215 | E>D | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs757666593 CA2916672 |
215 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356853669 rs750611314 |
216 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767900405 CA2916673 |
216 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA2916674 rs750611314 |
216 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780112691 CA2916677 |
220 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748048156 CA2916678 |
222 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA356853813 rs1169839126 |
223 | A>V | No |
ClinGen gnomAD |
|
|
rs1448171959 CA356853868 |
226 | G>R | No |
ClinGen TOPMed |
|
|
rs1294152316 CA356853897 |
227 | H>P | No |
ClinGen gnomAD |
|
|
rs866694562 CA96749098 |
228 | P>L | No |
ClinGen Ensembl |
|
|
CA96749101 rs868810538 |
230 | P>L | No |
ClinGen Ensembl |
|
|
rs1409473000 CA356853955 |
230 | P>S | No |
ClinGen gnomAD |
|
|
CA356853967 rs1326887945 |
231 | G>R | No |
ClinGen gnomAD |
|
|
rs1245526570 CA356853998 |
232 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs746842057 CA2916681 |
233 | D>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 234 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2916683 rs776181703 |
234 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356854113 rs1245136628 |
237 | F>S | No |
ClinGen TOPMed |
|
|
CA356854872 rs1420445076 |
239 | G>S | No |
ClinGen TOPMed |
|
|
CA2916699 rs757053654 |
241 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA2916701 rs745639219 |
246 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 248 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2916703 rs140373008 |
250 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2916704 rs748858371 |
251 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1264004797 CA356854951 |
251 | L>R | No |
ClinGen TOPMed |
|
|
CA2916705 rs768233261 |
255 | L>* | No |
ClinGen ExAC |
|
|
CA356854985 rs1376272902 |
256 | W>* | No |
ClinGen gnomAD |
|
|
CA2916707 rs762343467 |
258 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs772334679 CA2916708 COSM1055869 |
258 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs142708462 CA2916709 |
260 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs754034849 CA2916712 |
261 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2916711 rs766661541 |
261 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs766661541 CA356855012 |
261 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs759631753 CA2916713 |
263 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2916714 rs765237802 |
264 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA2916715 rs765237802 |
264 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs757280793 CA2916716 |
265 | W>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1439850036 CA356855057 |
268 | G>* | No |
ClinGen gnomAD |
|
|
rs766211368 CA2916741 |
268 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA356856110 rs1348887473 |
269 | T>R | No |
ClinGen gnomAD |
|
|
rs754733315 CA2916743 |
272 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356856147 rs1560489772 |
272 | A>T | No |
ClinGen Ensembl |
|
|
rs754733315 CA356856157 |
272 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2916745 rs747730162 COSM1429964 |
273 | A>V | kidney Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs778363560 CA2916747 |
275 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2916748 rs778363560 |
275 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356856230 rs1315742721 |
277 | Y>C | No |
ClinGen TOPMed |
|
|
CA2916749 rs771343664 |
279 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs777041327 CA2916750 |
280 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770046067 CA2916752 |
281 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs746230900 CA2916751 |
281 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1577662566 CA356856318 |
282 | A>V | No |
ClinGen Ensembl |
|
|
rs1303956550 CA356856425 |
289 | V>A | No |
ClinGen gnomAD |
|
|
CA2916756 rs773284498 |
291 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2916757 rs139431608 |
292 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2916758 rs766353967 |
295 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1479974876 CA356856537 |
295 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1056309690 CA96750955 |
297 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs766403715 CA2916759 |
297 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1468304600 CA356856601 |
299 | P>T | No |
ClinGen gnomAD |
|
|
rs753752746 CA2916760 |
301 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 301 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356856623 rs1421249705 |
302 | L>R | No |
ClinGen gnomAD |
|
|
rs1428676119 CA356856630 |
304 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
CA2916761 rs754788344 |
304 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA356856631 rs1428676119 |
304 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1162758138 CA356856644 |
306 | I>V | No |
ClinGen TOPMed |
|
|
CA356856669 rs1463010443 |
309 | G>V | No |
ClinGen gnomAD |
|
|
rs530797011 CA96750964 |
310 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA356856679 rs1326471696 |
311 | N>S | No |
ClinGen gnomAD |
|
|
CA356856716 rs1338760819 |
316 | M>I | No |
ClinGen gnomAD |
|
|
rs1290344104 CA356856710 |
316 | M>V | No |
ClinGen gnomAD |
|
|
CA356856731 rs1364363779 |
317 | T>I | No |
ClinGen gnomAD |
|
|
rs757955464 CA2916764 |
319 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs868065894 CA96750980 |
320 | M>I | No |
ClinGen Ensembl |
|
|
CA356856764 rs1242240417 |
320 | M>V | No |
ClinGen TOPMed |
|
| TCGA novel | 321 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1316108261 CA356856791 |
321 | I>R | No |
ClinGen gnomAD |
|
|
rs1316108261 CA356856789 |
321 | I>T | No |
ClinGen gnomAD |
|
|
rs1560490067 CA356856782 |
321 | I>V | No |
ClinGen Ensembl |
|
|
CA2916766 rs746518484 |
322 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs746518484 CA2916767 |
322 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs1274380648 CA356856817 |
323 | Y>C | No |
ClinGen gnomAD |
|
|
CA356856833 rs746283972 |
324 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA2916769 rs746283972 |
324 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA356856835 rs746283972 |
324 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA2916770 rs770096059 |
325 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs775813486 CA2916771 |
327 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1577662808 CA356856884 |
328 | F>C | No |
ClinGen Ensembl |
|
|
rs1185570945 CA356856904 |
329 | F>L | No |
ClinGen gnomAD |
|
|
rs749406472 CA2916772 |
330 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs768796039 CA2916773 |
331 | A>S | No |
ClinGen ExAC |
|
| TCGA novel | 332 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356856952 rs1449577642 |
333 | C>S | No |
ClinGen TOPMed |
|
|
CA96750995 rs1009554918 |
333 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA356856982 rs1164954931 COSM1055873 |
335 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA356856995 rs1417084012 |
336 | F>L | No |
ClinGen gnomAD |
|
|
rs752745320 CA2916774 |
336 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776684211 CA2916777 |
341 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA356857070 rs1360536092 |
341 | G>R | No |
ClinGen TOPMed |
|
|
rs759423464 CA2916778 |
342 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA2916779 rs765082022 |
344 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA2916781 rs139364544 |
345 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763800867 CA2916782 |
346 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA356857144 rs763800867 |
346 | R>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 347 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs150028125 CA2916783 |
349 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 350 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM587702 CA356857228 rs1215456344 |
352 | L>F | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs549677413 CA96751009 |
354 | G>R | No |
ClinGen gnomAD |
|
|
CA2916800 rs146581575 |
355 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146581575 CA96751721 |
355 | T>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA356858334 rs146581575 |
355 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA356858356 rs1169660139 |
356 | M>R | No |
ClinGen gnomAD |
|
|
rs1373077337 CA356858346 |
356 | M>V | No |
ClinGen TOPMed |
|
|
CA356858411 rs1279037756 |
359 | I>V | No |
ClinGen gnomAD |
|
|
rs769722314 CA2916802 |
360 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2916803 rs141315226 |
361 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs141315226 CA2916804 |
361 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1233419248 CA356858465 |
362 | L>V | No |
ClinGen gnomAD |
|
|
rs1373647295 CA356858485 |
363 | N>S | No |
ClinGen TOPMed |
|
|
CA2916805 rs751179545 |
366 | F>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 367 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1176981680 CA356858580 |
368 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA356858595 rs1299476484 |
370 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 370 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 371 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1396649720 CA356858605 |
371 | N>S | No |
ClinGen gnomAD |
|
|
CA356858609 rs1455799659 |
372 | L>I | No |
ClinGen gnomAD |
|
|
rs1174465585 CA356858615 |
373 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 373 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1577666201 CA356858653 |
378 | T>K | No |
ClinGen Ensembl |
|
|
rs1357828599 CA356858668 |
380 | N>S | No |
ClinGen TOPMed |
|
|
CA2916807 rs375380080 |
381 | S>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA96751732 rs375380080 |
381 | S>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA356858673 rs1442098615 |
381 | S>N | No |
ClinGen gnomAD |
|
|
CA2916809 rs143983446 |
383 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs756673155 CA2916810 |
385 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 387 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 387 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 388 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780605224 TCGA novel CA2916811 |
388 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
CA356858736 rs1342391487 |
388 | K>Q | No |
ClinGen gnomAD |
|
|
CA2916812 rs754193083 |
389 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs755347963 CA2916813 |
390 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1397369394 CA356858795 |
391 | K>N | No |
ClinGen TOPMed |
|
|
rs1328391957 CA356858811 |
392 | Y>F | No |
ClinGen gnomAD |
|
|
rs1254703402 CA356858836 |
393 | M>I | No |
ClinGen gnomAD |
|
|
CA356858831 rs1196671949 |
393 | M>T | No |
ClinGen gnomAD |
|
|
rs1439107618 CA356858823 |
393 | M>V | No |
ClinGen TOPMed |
|
|
rs779025162 CA2916815 |
394 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA356860628 rs1397628555 |
398 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA2916849 rs772827714 |
399 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs760123980 CA2916850 |
400 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA2916851 rs368746921 |
401 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2916852 rs777004978 |
402 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs267600178 CA96757204 |
406 | L>F | No |
ClinGen TOPMed |
|
|
rs765646676 CA2916855 |
407 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA2916857 rs758816726 |
409 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2916858 rs764437967 |
410 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2916861 rs540917520 |
411 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2916860 rs371085896 |
411 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201019015 CA2916862 |
412 | H>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA356860871 rs1166610374 |
412 | H>Q | No |
ClinGen TOPMed |
|
|
CA356860904 rs1401534021 |
414 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA356860908 rs1401534021 |
414 | A>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 415 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1359511015 CA356860933 |
416 | E>K | No |
ClinGen gnomAD |
|
|
CA96757235 rs878867048 |
416 | E>V | No |
ClinGen gnomAD |
|
|
CA96757237 rs532922797 |
418 | K>Q | No |
ClinGen 1000Genomes gnomAD |
|
|
rs778789556 CA2916864 |
420 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356861027 rs1310508428 |
422 | V>A | No |
ClinGen gnomAD |
|
|
rs1195841831 COSM1694361 CA356862646 |
423 | A>T | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs921221217 CA96762712 |
424 | P>L | No |
ClinGen TOPMed |
|
|
CA356862689 rs1051562310 |
425 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA96762728 rs1051562310 |
425 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA2916890 rs746764467 |
426 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772637891 CA96762744 |
427 | E>G | No |
ClinGen Ensembl |
|
|
CA2916891 rs770681521 |
428 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA96762756 rs868306552 |
429 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA2916893 rs373531552 |
429 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373531552 CA2916892 |
429 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2916894 rs375912340 |
431 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1309309113 CA356862834 |
433 | W>R | No |
ClinGen gnomAD |
|
|
CA356862858 rs1291302424 |
434 | P>A | No |
ClinGen TOPMed |
|
|
rs763495980 CA2916896 |
434 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1222908164 CA356862876 |
436 | R>K | No |
ClinGen gnomAD |
|
|
rs1316520153 CA356862965 |
441 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs769273266 CA2916897 |
442 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2916898 rs369687166 |
443 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 444 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356863042 rs1264457969 |
445 | S>F | No |
ClinGen TOPMed |
|
|
rs546050684 CA2916900 |
445 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2916901 rs750561336 |
446 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA356863045 rs1208204244 |
446 | S>R | No |
ClinGen TOPMed |
|
|
rs760774319 CA2916902 |
447 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356863082 rs1560503160 |
448 | E>* | No |
ClinGen Ensembl |
|
| TCGA novel | 448 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 450 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1577687349 CA356863133 |
451 | A>T | No |
ClinGen Ensembl |
|
|
CA356863143 rs1215811602 |
451 | A>V | No |
ClinGen TOPMed |
|
|
CA96762773 COSM106941 rs149402114 |
452 | H>Y | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1349057717 CA356863211 |
455 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 458 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs377121942 CA96763877 |
459 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA2916925 rs766574544 |
460 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2916926 rs776757038 |
462 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2916928 rs199859336 |
464 | I>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2916927 rs759580379 |
464 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs751413481 CA356863886 |
466 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs1482201863 CA356863888 |
466 | E>G | No |
ClinGen gnomAD |
|
|
rs751413481 CA2916929 COSM1694364 |
466 | E>K | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA356863895 rs757080396 |
467 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA2916930 rs757080396 |
467 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1158251901 CA356863905 |
468 | D>E | No |
ClinGen gnomAD |
|
|
CA356863899 rs1440595471 |
468 | D>N | No |
ClinGen gnomAD |
|
|
CA2916932 rs146800586 |
469 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356863911 rs1159562475 |
469 | A>V | No |
ClinGen TOPMed |
|
|
CA356863923 rs1359112982 |
471 | K>R | No |
ClinGen gnomAD |
|
|
rs1238781034 CA356863936 |
473 | Y>C | No |
ClinGen gnomAD |
|
|
CA96763956 rs763093237 |
474 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA356863942 rs1378077261 |
474 | M>K | No |
ClinGen gnomAD |
|
|
rs1019550312 CA96763953 |
474 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA96763968 rs868432623 |
475 | G>E | No |
ClinGen Ensembl |
|
|
CA2916935 rs748858503 |
475 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2916936 rs370873128 |
476 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1349510485 CA356863958 |
476 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1219318451 CA356863973 |
477 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs748532871 CA2916938 |
481 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764531933 CA96763986 |
481 | M>T | No |
ClinGen gnomAD |
|
|
CA356864069 TCGA novel rs1267948480 |
482 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed NCI-TCGA |
|
CA2916939 rs772494324 |
482 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs867219005 CA96764009 |
484 | G>E | No |
ClinGen Ensembl |
|
|
CA2916942 rs773506919 |
484 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA2916944 rs771181370 COSM1055874 |
485 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA356864144 rs776809983 CA2916945 |
486 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA96764017 rs868839787 |
486 | K>Q | No |
ClinGen Ensembl |
|
|
CA356864196 rs1251139503 |
489 | F>C | No |
ClinGen gnomAD |
|
|
CA356864214 rs1413312211 |
490 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs759645844 CA2916946 |
490 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
CA356864205 rs759645844 |
490 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA2916947 rs533411383 |
491 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA356864289 rs1329657863 |
495 | P>L | No |
ClinGen gnomAD |
|
|
COSM311211 rs372124858 CA96764044 CA356864296 |
496 | S>R | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
COSM311211 CA356864290 rs1577689819 |
496 | S>R | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA96764048 rs983779713 |
497 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
rs368556831 CA2916949 |
498 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371226736 CA2916950 |
498 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2916951 rs202214286 |
498 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA356864310 rs1258666263 |
499 | Y>C | No |
ClinGen gnomAD |
|
|
CA356864308 rs1458609134 |
499 | Y>D | No |
ClinGen TOPMed |
|
|
CA2916954 rs367624415 |
502 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371130655 CA356864331 |
502 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA96764101 rs367624415 |
502 | W>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 502 | W>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371130655 CA2916953 |
502 | W>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs753551144 CA2916974 |
505 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA356864357 rs1370656646 |
505 | M>L | No |
ClinGen gnomAD |
|
|
CA356864361 rs1473348999 |
505 | M>T | No |
ClinGen gnomAD |
|
|
rs201280789 CA2916975 |
508 | S>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 509 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752188744 CA2916977 |
510 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs764937989 CA2916976 |
510 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs202103723 CA2916978 |
511 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA356864398 rs1456802226 |
511 | P>S | No |
ClinGen TOPMed |
|
|
CA2916979 rs778272576 |
512 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1282194101 CA356864410 |
513 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1243806976 CA356864407 |
513 | V>M | No |
ClinGen gnomAD |
|
|
rs980558185 CA96765142 |
514 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1560505214 CA356864429 |
516 | E>G | No |
ClinGen Ensembl |
|
|
rs34483636 RCV000956196 CA2916980 |
516 | E>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2916981 rs556087852 |
517 | H>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2916982 rs781596373 |
517 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA2916984 rs574344101 |
519 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA356864447 rs574344101 |
519 | L>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2916985 rs769954787 |
519 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753748742 CA2916986 |
521 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1187355524 CA356864459 |
521 | P>S | No |
ClinGen gnomAD |
|
|
CA356864467 rs1353428218 |
522 | S>L | No |
ClinGen Ensembl |
|
|
rs1269026924 CA356864475 |
524 | E>Q | No |
ClinGen TOPMed |
|
|
rs768744801 CA2916988 |
525 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs376324090 CA96765177 |
526 | E>* | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 526 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356864489 rs1417322759 |
526 | E>G | No |
ClinGen gnomAD |
|
|
CA2916989 rs376324090 COSM190331 |
526 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
rs1402892003 CA356864501 |
528 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1402892003 CA356864502 |
528 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1395377778 CA356864505 |
528 | A>V | No |
ClinGen gnomAD |
|
|
CA356864512 rs151322240 |
530 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2916992 rs151322240 |
530 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs759344452 CA2916993 |
531 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA356864535 rs752344668 |
533 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs181675127 CA2916998 |
535 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs181675127 CA2916999 |
535 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200399183 CA2917000 |
536 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200399183 CA2917001 |
536 | N>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs143606614 CA2917002 |
537 | I>L | No |
ClinGen ESP ExAC |
|
|
CA2917004 rs756455299 |
538 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1685946 rs756455299 CA2917003 |
538 | S>L | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA356864616 rs1255727488 |
542 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA2917007 rs779187920 |
543 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA2917006 rs755118683 |
543 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs748230628 CA2917008 |
545 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1424723851 CA356864701 |
546 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
CA356864693 rs1377666359 |
546 | V>L | No |
ClinGen gnomAD |
|
|
rs1377666359 CA356864697 |
546 | V>M | No |
ClinGen gnomAD |
|
|
rs1465525884 CA356864721 |
547 | T>I | No |
ClinGen gnomAD |
|
|
CA96765344 rs202039693 |
548 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA356864760 rs1429896100 |
549 | F>S | No |
ClinGen TOPMed |
|
| rs756008708 | 552 | H>= | Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756008708 CA2917013 COSM1540290 |
552 | H>Q | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs371357170 COSM734252 CA2917031 |
553 | E>D | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA356864801 rs35575404 |
553 | E>K | No |
ClinGen gnomAD |
|
|
CA96765355 rs35575404 |
553 | E>Q | No |
ClinGen gnomAD |
|
|
CA2917032 rs375008271 |
554 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2917033 rs749053330 |
557 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA356865830 rs1219747357 |
558 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 559 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1252005924 CA356865873 |
560 | L>P | No |
ClinGen TOPMed |
|
|
CA356865887 rs1278017095 COSM734251 |
561 | Q>R | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA356865917 rs1224184725 COSM447920 |
562 | A>G | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA2917034 rs768351148 |
562 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs534414846 CA96768957 |
563 | I>L | No |
ClinGen 1000Genomes gnomAD |
|
|
CA2917035 rs141746659 |
563 | I>T | No |
ClinGen ESP ExAC |
|
|
CA96768958 rs191141702 |
565 | V>I | No |
ClinGen 1000Genomes |
|
|
CA2917036 rs761346667 |
566 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2917037 rs766988714 |
567 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA356866031 rs1264702287 |
568 | L>P | No |
ClinGen gnomAD |
|
|
CA356866052 rs1325831671 |
569 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1192833053 CA356866042 |
569 | L>V | No |
ClinGen gnomAD |
|
|
rs1425370095 CA356866111 |
572 | S>G | No |
ClinGen gnomAD |
|
|
CA356866129 rs1165140334 |
572 | S>R | No |
ClinGen gnomAD |
|
|
rs1350742742 CA356866157 |
574 | N>H | No |
ClinGen gnomAD |
|
|
rs1301412313 CA356866176 |
574 | N>K | No |
ClinGen gnomAD |
|
|
rs1457587415 CA356866170 |
574 | N>S | No |
ClinGen gnomAD |
|
|
CA2917038 rs773603002 |
575 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs773603002 CA96768980 |
575 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA356866239 rs1276701332 |
576 | V>E | No |
ClinGen TOPMed |
|
|
rs766787761 CA2917040 |
577 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1298150762 CA356866251 |
577 | I>V | No |
ClinGen gnomAD |
|
|
CA96769013 rs377699088 |
578 | F>C | No |
ClinGen ESP TOPMed |
|
|
CA356866318 rs1320815746 |
580 | G>* | No |
ClinGen gnomAD |
|
|
CA2917042 rs370267563 |
581 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1577697180 CA356866364 |
582 | I>N | No |
ClinGen Ensembl |
|
|
CA2917043 rs765579094 |
582 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA356866373 rs1560508189 |
583 | T>S | No |
ClinGen Ensembl |
|
|
CA2917045 rs758555851 |
584 | S>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 585 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1484184990 CA356866412 |
586 | P>S | No |
ClinGen gnomAD |
|
|
rs886525062 CA96769038 |
591 | Y>D | No |
ClinGen TOPMed |
|
|
CA2917051 rs768404424 |
594 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1156313306 CA356866583 |
598 | G>R | No |
ClinGen TOPMed |
|
|
CA2917054 rs558192034 |
599 | N>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2917055 rs372102476 |
600 | V>L | No |
ClinGen ESP ExAC TOPMed |
|
|
rs746550992 CA2917077 |
602 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs138815001 CA2917079 |
604 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA96772801 rs1053433656 |
604 | D>V | No |
ClinGen TOPMed |
|
|
CA356868300 rs1219263671 |
605 | S>N | No |
ClinGen gnomAD |
|
|
rs1277832876 CA356868351 |
607 | D>H | No |
ClinGen gnomAD |
|
|
rs1277832876 CA356868353 |
607 | D>Y | No |
ClinGen gnomAD |
|
|
CA356868419 rs1397902689 |
609 | D>G | No |
ClinGen gnomAD |
|
|
rs754028076 CA2917081 |
611 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2917080 rs760061713 |
611 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1392072505 CA356868488 |
611 | W>S | No |
ClinGen TOPMed |
|
|
rs776039341 CA356868637 |
613 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1458415502 CA356868676 |
614 | Y>F | No |
ClinGen gnomAD |
|
|
CA356868770 rs1479067972 |
616 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2917086 rs761962141 |
617 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA2917085 rs774400163 |
617 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA2917084 rs764399879 |
617 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs767529441 COSM1694365 CA2917087 |
618 | R>* | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs767529441 CA356868787 |
618 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA2917088 rs750492411 |
618 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA356868819 rs1326478648 |
619 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA356868850 rs1273718819 |
620 | L>Q | No |
ClinGen gnomAD |
|
|
rs1460883377 CA356868900 |
621 | I>S | No |
ClinGen Ensembl |
|
|
CA356867424 rs1264546483 |
622 | R>S | No |
ClinGen gnomAD |
|
|
rs752536359 CA2917110 |
624 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs142768963 CA356867514 |
626 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA356867513 rs1422454686 |
626 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs142768963 CA2917113 RCV000974606 |
626 | A>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs200414700 CA2917114 |
628 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA96755527 rs1036798764 |
629 | S>C | No |
ClinGen TOPMed |
|
|
rs201407409 CA356867579 |
630 | H>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs745393347 CA2917117 |
633 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1328648485 CA356867673 |
634 | S>R | No |
ClinGen TOPMed |
|
|
rs200892091 CA96755538 |
635 | D>E | No |
ClinGen 1000Genomes |
|
|
rs377674536 CA356867701 |
636 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377674536 CA2917118 |
636 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356867784 rs1340865835 |
638 | I>M | No |
ClinGen gnomAD |
|
|
CA2917119 rs749704902 |
638 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1380458170 CA356867765 |
638 | I>V | No |
ClinGen gnomAD |
|
|
CA356867822 rs1371370259 |
640 | M>I | No |
ClinGen Ensembl |
|
|
CA356867832 rs1304751485 |
641 | A>T | No |
ClinGen gnomAD |
|
|
CA356867968 rs1230195411 |
645 | I>N | No |
ClinGen TOPMed |
|
| TCGA novel | 648 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356868033 rs1357477208 |
648 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA356868073 rs1448232024 |
649 | P>L | No |
ClinGen TOPMed |
|
|
CA2917122 rs748511152 |
649 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs369629553 CA2917123 |
650 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 650 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA356868192 rs1433700128 |
654 | D>E | No |
ClinGen TOPMed |
|
|
CA356868240 rs1203877339 |
655 | N>K | No |
ClinGen gnomAD |
|
|
rs760772228 CA2917125 |
656 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770929815 CA2917126 |
659 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs770929815 CA356868371 |
659 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs775508919 CA2917127 |
660 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA356868441 rs1560515780 |
661 | D>G | No |
ClinGen Ensembl |
|
|
CA2917128 rs762856061 |
662 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA2917130 CA2917129 rs764087948 |
662 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs374056203 CA2917131 |
664 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA356868614 rs1365653229 |
665 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1365653229 CA356868608 |
665 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1362682211 CA356868638 |
666 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs200019400 CA2917132 |
667 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2917133 rs750031388 |
670 | H>R | No |
ClinGen ExAC |
|
| TCGA novel | 671 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1174274058 | 673 | P>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs78899539 CA96760951 |
676 | G>E | No |
ClinGen Ensembl |
|
|
rs78899539 CA96760946 |
676 | G>V | No |
ClinGen Ensembl |
|
|
rs1346772230 CA356870980 |
677 | S>C | No |
ClinGen gnomAD |
|
|
rs1346772230 CA356870978 |
677 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1379095210 CA356870994 |
678 | Y>C | No |
ClinGen gnomAD |
|
|
rs750232084 CA2917154 |
678 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA2917155 rs760474907 |
679 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1250425163 CA356871008 |
679 | K>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1437442641 CA356871044 |
681 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs867495817 CA96760998 |
682 | H>Q | No |
ClinGen Ensembl |
|
|
rs753333755 CA2917158 |
682 | H>R | No |
ClinGen ExAC TOPMed |
|
|
rs754458139 CA2917159 |
683 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1165046214 CA356871105 |
684 | Y>* | No |
ClinGen gnomAD |
|
|
rs558880740 CA2917160 |
684 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2917161 rs753132393 |
686 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA2917162 rs758773449 |
687 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778166290 CA2917163 |
687 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2917164 rs577407887 |
688 | H>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs746314286 CA96761016 |
689 | H>L | No |
ClinGen Ensembl |
|
|
CA2917165 rs1051447 VAR_039235 |
689 | H>N | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA356871217 rs1372783543 |
691 | H>R | No |
ClinGen gnomAD |
|
|
rs866201546 CA96761021 COSM1694367 |
691 | H>Y | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA356871235 rs1460658835 |
692 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1356203523 CA356871227 |
692 | M>V | No |
ClinGen gnomAD |
|
|
rs149447165 CA2917166 |
693 | N>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 693 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1366254737 CA356871275 |
694 | T>N | No |
ClinGen gnomAD |
|
|
rs1404364164 CA356871287 |
695 | P>H | No |
ClinGen gnomAD |
|
|
rs1404364164 CA356871289 |
695 | P>R | No |
ClinGen gnomAD |
|
|
RCV000955164 rs538616012 |
696 | K>missing | No |
ClinVar dbSNP |
|
|
CA2917168 rs376806787 |
696 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1215581778 CA356871302 |
696 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1215581778 CA356871300 |
696 | K>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA2917171 rs748157272 |
697 | Y>* | No |
ClinGen ExAC |
|
|
CA2917170 rs774170991 |
697 | Y>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774170991 CA356871311 |
697 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1444879074 CA356871342 |
699 | L>* | No |
ClinGen TOPMed gnomAD |
No associated diseases with Q9H720
No regional properties for Q9H720
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9H720 | |||
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| 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. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| GPI anchor biosynthetic process | The chemical reactions and pathways resulting in the formation of a glycosylphosphatidylinositol (GPI) anchor that attaches some membrane proteins to the lipid bilayer of the cell membrane. The phosphatidylinositol group is linked via the C-6 hydroxyl residue of inositol to a carbohydrate chain which is itself linked to the protein via an ethanolamine phosphate group, its amino group forming an amide linkage with the C-terminal carboxyl of the protein. Some GPI anchors have variants on this canonical linkage. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q91YL7 | Cwh43 | PGAP2-interacting protein | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MPSLWREILL | ESLLGCVSWS | LYHDLGPMIY | YFPLQTLELT | GLEGFSIAFL | SPIFLTITPF |
| 70 | 80 | 90 | 100 | 110 | 120 |
| WKLVNKKWML | TLLRIITIGS | IASFQAPNAK | LRLMVLALGV | SSSLIVQAVT | WWSGSHLQRY |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LRIWGFILGQ | IVLVVLRIWY | TSLNPIWSYQ | MSNKVILTLS | AIATLDRIGT | DGDCSKPEEK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| KTGEVATGMA | SRPNWLLAGA | AFGSLVFLTH | WVFGEVSLVS | RWAVSGHPHP | GPDPNPFGGA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VLLCLASGLM | LPSCLWFRGT | GLIWWVTGTA | SAAGLLYLHT | WAAAVSGCVF | AIFTASMWPQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TLGHLINSGT | NPGKTMTIAM | IFYLLEIFFC | AWCTAFKFVP | GGVYARERSD | VLLGTMMLII |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GLNMLFGPKK | NLDLLLQTKN | SSKVLFRKSE | KYMKLFLWLL | VGVGLLGLGL | RHKAYERKLG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KVAPTKEVSA | AIWPFRFGYD | NEGWSSLERS | AHLLNETGAD | FITILESDAS | KPYMGNNDLT |
| 490 | 500 | 510 | 520 | 530 | 540 |
| MWLGEKLGFY | TDFGPSTRYH | TWGIMALSRY | PIVKSEHHLL | PSPEGEIAPA | ITLTVNISGK |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LVDFVVTHFG | NHEDDLDRKL | QAIAVSKLLK | SSSNQVIFLG | YITSAPGSRD | YLQLTEHGNV |
| 610 | 620 | 630 | 640 | 650 | 660 |
| KDIDSTDHDR | WCEYIMYRGL | IRLGYARISH | AELSDSEIQM | AKFRIPDDPT | NYRDNQKVVI |
| 670 | 680 | 690 | |||
| DHREVSEKIH | FNPRFGSYKE | GHNYENNHHF | HMNTPKYFL |