Q6H9L7
PR
Gene name |
ISM2 (TAIL1, THSD3, PSEC0137) |
Protein name |
Isthmin-2 |
Names |
Pollen allergen Pla a 2, Thrombospondin and AMOP domain-containing isthmin-like protein 1, Thrombospondin type-1 domain-containing protein 3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:145501 |
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 Q6H9L7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q6H9L7-F1 | Predicted | AlphaFoldDB |
568 variants for Q6H9L7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1378498011 CA390721913 |
2 | R>G | No |
ClinGen gnomAD |
|
|
CA390721911 rs1594958943 |
2 | R>H | No |
ClinGen Ensembl |
|
|
rs1282379913 CA390721906 |
3 | A>G | No |
ClinGen gnomAD |
|
|
CA263870044 rs868320564 |
3 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA390721895 rs1266514323 |
5 | R>C | No |
ClinGen gnomAD |
|
|
CA390721891 rs939819492 |
6 | D>N | No |
ClinGen TOPMed |
|
|
CA263870030 rs939819492 |
6 | D>Y | No |
ClinGen TOPMed |
|
|
CA390721883 rs1594958924 |
7 | R>* | No |
ClinGen Ensembl |
|
|
rs765494267 CA390721881 |
7 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs765494267 CA7289081 |
7 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs1263807124 CA390721872 |
9 | G>R | No |
ClinGen TOPMed |
|
|
CA7289080 rs759724696 |
10 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA263870003 rs759724696 |
10 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1274860537 CA390721863 |
11 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7289079 rs753619086 |
12 | L>F | No |
ClinGen ExAC TOPMed |
|
|
rs1594958880 CA390721850 |
13 | C>Y | No |
ClinGen Ensembl |
|
|
CA390721836 rs1594958864 |
15 | L>P | No |
ClinGen Ensembl |
|
|
rs12431905 CA390721838 |
15 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1385518280 CA390721826 |
17 | L>P | No |
ClinGen TOPMed |
|
|
rs1409518754 CA390721828 |
17 | L>V | No |
ClinGen gnomAD |
|
|
rs772051861 CA7289074 |
18 | A>E | No |
ClinGen ExAC TOPMed |
|
|
rs772051861 CA390721821 |
18 | A>G | No |
ClinGen ExAC TOPMed |
|
|
CA390721814 rs1312526188 |
19 | A>V | No |
ClinGen TOPMed |
|
|
rs1555371962 CA390721808 |
21 | L>M | No |
ClinGen Ensembl |
|
|
CA7289073 rs761305609 |
22 | E>D | No |
ClinGen ExAC |
|
|
rs1261913589 CA390721802 |
22 | E>K | No |
ClinGen TOPMed |
|
|
CA7289072 rs773776742 |
24 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA390721785 rs1243649179 |
25 | L>I | No |
ClinGen TOPMed |
|
|
rs1234587722 CA390721766 |
28 | P>S | No |
ClinGen gnomAD |
|
|
CA7289071 rs768334259 |
30 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1036433430 CA390721741 |
32 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1036433430 CA263869834 |
32 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1321036109 CA390721736 |
33 | R>G | No |
ClinGen gnomAD |
|
|
rs1362191226 CA390721724 |
35 | R>C | No |
ClinGen TOPMed |
|
|
rs940774940 CA263869817 |
35 | R>H | No |
ClinGen TOPMed |
|
|
rs927754972 CA263869784 |
38 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs927754972 CA390721706 |
38 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA390721707 rs1177837007 |
38 | R>W | No |
ClinGen TOPMed |
|
|
rs770089327 CA263869782 |
39 | P>L | No |
ClinGen Ensembl |
|
|
rs958128731 CA263869776 |
40 | G>R | No |
ClinGen Ensembl |
|
|
CA390721688 rs1278089069 |
41 | S>R | No |
ClinGen gnomAD |
|
|
CA390721684 rs1442125957 |
42 | L>F | No |
ClinGen gnomAD |
|
|
CA390721679 rs1594958766 |
43 | T>A | No |
ClinGen Ensembl |
|
|
rs1594958763 CA390721675 |
43 | T>M | No |
ClinGen Ensembl |
|
|
CA390721661 rs1341553543 |
46 | A>T | No |
ClinGen gnomAD |
|
|
rs1338807754 CA390721656 |
46 | A>V | No |
ClinGen gnomAD |
|
|
rs1237523122 CA390721649 |
47 | E>D | No |
ClinGen gnomAD |
|
|
rs1378010801 CA390721651 |
47 | E>G | No |
ClinGen TOPMed |
|
|
rs1361458835 CA390720869 |
48 | V>A | No |
ClinGen gnomAD |
|
|
CA263858011 rs912136606 |
48 | V>L | No |
ClinGen TOPMed |
|
|
rs531333929 CA7289044 |
50 | A>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA390720858 rs1244572970 |
50 | A>S | No |
ClinGen gnomAD |
|
|
rs755026075 CA7289043 |
51 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
CA390720852 rs755026075 |
51 | S>Y | No |
ClinGen ExAC TOPMed |
|
|
rs1366252054 CA390720842 |
53 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA390720828 rs1380944900 |
55 | R>K | No |
ClinGen gnomAD |
|
|
rs191144361 CA263857990 |
58 | K>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs749439030 CA7289042 |
59 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1427135297 CA390720796 |
60 | E>K | No |
ClinGen gnomAD |
|
|
rs200398611 CA263857974 |
61 | E>* | No |
ClinGen Ensembl |
|
|
CA263857956 rs995267805 |
64 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs149033774 CA7289039 |
66 | L>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1594950473 CA390720757 |
66 | L>P | No |
ClinGen Ensembl |
|
|
CA390720740 rs1566755906 |
69 | T>A | No |
ClinGen Ensembl |
|
|
CA390720739 rs1566755906 |
69 | T>P | No |
ClinGen Ensembl |
|
|
CA390720732 rs1594950467 |
70 | H>P | No |
ClinGen Ensembl |
|
|
CA263857940 rs931979703 |
71 | L>Q | No |
ClinGen TOPMed |
|
|
rs1428076000 CA390720721 |
72 | Q>* | No |
ClinGen gnomAD |
|
|
rs767324835 CA263857924 |
73 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750200433 CA7289038 |
73 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7289037 rs767324835 |
73 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7289036 rs757150689 |
75 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1271735016 TCGA novel CA390720673 |
76 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen TOPMed |
|
rs551727152 CA7289035 |
78 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA390720616 rs763602615 |
80 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390720601 rs1490128886 |
81 | W>* | No |
ClinGen TOPMed |
|
|
rs1244088331 CA390720576 |
83 | V>L | No |
ClinGen TOPMed |
|
|
CA390720519 rs1474578844 |
87 | A>V | No |
ClinGen TOPMed |
|
|
CA263857883 rs530351033 |
88 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7289032 rs530351033 |
88 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1302872132 CA390720506 |
89 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA390720504 rs1302872132 |
89 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs935253452 CA263857878 |
90 | T>N | No |
ClinGen Ensembl |
|
|
CA390720475 rs1410960029 |
91 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs781297697 CA7289030 |
91 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390720473 rs1410960029 |
91 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs3742728 CA390720438 |
94 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs3742728 CA7289028 VAR_035365 |
94 | A>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1199932367 CA390720429 |
94 | A>V | No |
ClinGen gnomAD |
|
|
CA390720418 rs1266759838 |
95 | T>I | No |
ClinGen gnomAD |
|
|
rs1266759838 CA390720419 |
95 | T>S | No |
ClinGen gnomAD |
|
|
CA7289026 rs77472100 |
96 | P>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM3690219 rs77472100 CA7289025 |
96 | P>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM553870 rs748631666 CA7289027 |
96 | P>T | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA390720374 rs1359536889 |
99 | T>S | No |
ClinGen TOPMed |
|
|
rs1193548056 CA390720363 |
100 | P>Q | No |
ClinGen gnomAD |
|
|
CA390720362 rs1193548056 |
100 | P>R | No |
ClinGen gnomAD |
|
|
rs1358592421 CA390720350 |
101 | E>A | No |
ClinGen TOPMed |
|
|
rs1263365228 CA390720339 |
102 | V>F | No |
ClinGen gnomAD |
|
|
CA390720330 rs1594950351 |
103 | T>P | No |
ClinGen Ensembl |
|
|
CA7289021 rs373260578 |
104 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs143360537 CA263857763 COSM106826 |
104 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs371970567 CA390720292 |
106 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7289017 rs371970567 COSM1371275 |
106 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7289018 rs140785058 |
106 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7289015 rs752127785 |
108 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758401896 CA7289016 |
108 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs201663084 CA7289014 |
111 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 111 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759196651 CA7289013 |
113 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390720195 rs1234502576 |
114 | G>E | No |
ClinGen gnomAD |
|
|
rs368862478 CA7289011 |
115 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390720166 rs1456917277 |
116 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1243154894 CA390720164 |
117 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1205177934 CA390720154 |
117 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA7289010 rs147196012 |
118 | T>A | No |
ClinGen ESP ExAC gnomAD |
|
|
rs774815444 CA7289009 |
118 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 118 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 121 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA263857655 rs763535406 |
121 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA7289007 rs763535406 |
121 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA263857652 rs951071902 |
122 | T>I | No |
ClinGen Ensembl |
|
|
rs1594950283 CA390720040 |
122 | T>S | No |
ClinGen Ensembl |
|
|
CA390720017 rs1239588680 |
126 | D>N | No |
ClinGen gnomAD |
|
|
CA263857638 rs995610938 |
127 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA390720006 rs995610938 |
127 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs746036203 CA7289004 |
128 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA390719983 rs1433085563 |
129 | A>S | No |
ClinGen gnomAD |
|
|
CA390719980 rs1346749977 |
129 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7288992 rs144651091 |
130 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778766551 CA263857542 |
132 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
COSM1678155 rs778766551 CA263857534 |
132 | S>F | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs11850175 RCV000957908 CA7288991 VAR_035366 |
133 | P>A | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1326429963 CA390719959 |
134 | D>N | No |
ClinGen gnomAD |
|
|
CA7288989 rs763304757 |
136 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138409143 CA390719937 |
137 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138409143 CA7288988 |
137 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA263857522 rs375465081 |
137 | P>T | No |
ClinGen ESP gnomAD |
|
|
CA263857519 rs1043661373 |
139 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1403849380 CA390719924 |
140 | E>K | No |
ClinGen gnomAD |
|
|
rs1193365394 CA615669214 |
140 | E>Q | No |
ClinGen gnomAD |
|
|
rs867329188 CA263857518 |
142 | E>* | No |
ClinGen Ensembl |
|
|
rs1490667085 CA390719902 |
142 | E>D | No |
ClinGen gnomAD |
|
|
rs150082352 CA7288987 |
145 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7288985 rs374050496 |
145 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7288986 rs374050496 |
145 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs140927914 CA7288984 |
146 | L>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs140927914 CA390719882 |
146 | L>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs747279381 CA7288983 |
147 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1393670871 CA390719874 |
148 | P>S | No |
ClinGen TOPMed |
|
|
CA390719858 rs1303680971 |
150 | T>I | No |
ClinGen TOPMed |
|
|
CA390719854 rs1172638477 |
151 | H>P | No |
ClinGen gnomAD |
|
|
rs1276125790 CA390719833 |
154 | A>E | No |
ClinGen gnomAD |
|
|
rs771912300 CA7288980 |
155 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs748013943 CA7288979 |
156 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390719809 rs1456279503 |
158 | Q>* | No |
ClinGen gnomAD |
|
|
CA7288977 rs755002022 |
158 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs778989446 CA7288978 |
158 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs779634931 CA7288975 |
159 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779634931 CA7288976 |
159 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7288974 rs755680103 |
160 | G>* | No |
ClinGen ExAC gnomAD |
|
|
rs750097467 CA7288973 |
160 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1271419620 CA390719790 |
161 | C>F | No |
ClinGen gnomAD |
|
|
rs1480958422 CA390719794 |
161 | C>R | No |
ClinGen gnomAD |
|
|
CA390719783 rs1229843096 |
162 | W>* | No |
ClinGen TOPMed |
|
|
CA390719772 rs1488417009 |
164 | V>I | No |
ClinGen gnomAD |
|
|
CA390719752 rs1233545803 |
167 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1206687005 CA390719741 |
168 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7288972 rs764310657 |
169 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA390719735 rs1217845841 |
170 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA390719732 rs1223887028 |
170 | L>P | No |
ClinGen TOPMed |
|
|
CA390719734 rs1217845841 |
170 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1271612638 CA390719725 |
171 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 171 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390719723 rs983609635 |
172 | P>A | No |
ClinGen gnomAD |
|
|
rs983609635 CA263857367 |
172 | P>S | No |
ClinGen gnomAD |
|
|
CA263857357 rs1051986814 |
175 | A>D | No |
ClinGen TOPMed |
|
|
rs1298290021 CA390719703 |
175 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs370331721 CA7288969 |
176 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1370905228 CA390719692 |
177 | P>L | No |
ClinGen TOPMed |
|
|
CA390719688 rs867341952 |
178 | P>A | No |
ClinGen TOPMed |
|
|
rs867341952 CA263857333 |
178 | P>S | No |
ClinGen TOPMed |
|
|
rs766483517 CA7288966 |
180 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA390719674 rs766483517 |
180 | T>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 181 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1174336270 CA390719669 |
181 | Q>P | No |
ClinGen gnomAD |
|
|
CA390719656 rs1292767050 |
183 | V>I | No |
ClinGen TOPMed |
|
|
CA7288963 rs772248918 |
184 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA7288964 rs772248918 |
184 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs137918194 CA7288962 |
185 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7288961 rs137918194 |
185 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1362370152 CA390719644 |
185 | P>T | No |
ClinGen TOPMed |
|
|
rs749267357 CA7288959 |
187 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1566755449 CA390719634 |
187 | L>V | No |
ClinGen Ensembl |
|
|
CA7288958 rs145110700 |
188 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1462796207 CA390719627 |
189 | E>K | No |
ClinGen gnomAD |
|
|
CA390719626 rs1462796207 |
189 | E>Q | No |
ClinGen gnomAD |
|
|
rs745431075 CA7288956 |
194 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7288955 rs780897446 |
195 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA390719585 rs1225333381 |
195 | E>G | No |
ClinGen gnomAD |
|
|
CA7288953 rs753038391 |
197 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390719569 rs1452943311 |
198 | H>N | No |
ClinGen gnomAD |
|
|
CA390719565 rs1407815943 |
198 | H>R | No |
ClinGen gnomAD |
|
|
rs754380719 CA7288951 |
199 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7288950 rs754380719 |
199 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1346368726 CA390719556 |
200 | T>A | No |
ClinGen gnomAD |
|
|
CA7288948 rs760804321 |
202 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA390719527 rs949217449 |
204 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs949217449 CA263857163 |
204 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA390719529 rs1594949876 |
204 | P>S | No |
ClinGen Ensembl |
|
|
rs554027248 CA7288947 |
205 | N>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7288946 rs767821952 |
205 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA263857090 rs1010830412 |
208 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
CA7288944 rs774244483 |
209 | Q>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 211 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390719463 rs1482896654 |
212 | I>S | No |
ClinGen TOPMed |
|
|
rs575071293 CA7288923 |
213 | K>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs769753372 CA7288922 |
213 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1162687683 CA390719455 |
214 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 215 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs80182458 CA7288918 |
217 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7288920 rs759418382 |
217 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7288917 rs538841207 |
218 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1453216372 CA390719423 |
219 | Q>E | No |
ClinGen gnomAD |
|
|
CA7288915 rs771749346 |
221 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1259589493 CA390719403 |
222 | V>M | No |
ClinGen gnomAD |
|
|
CA7288914 rs142992777 |
223 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs149000983 CA7288912 |
224 | I>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1323018250 COSM1165175 CA390719380 |
225 | D>E | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs781360633 CA7288910 |
225 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757401993 CA7288909 |
226 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1324014403 CA390719378 |
226 | L>Q | No |
ClinGen gnomAD |
|
|
CA390719371 rs1465238784 |
227 | L>F | No |
ClinGen gnomAD |
|
|
rs764380970 CA7288907 |
227 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1176827891 CA390719361 |
229 | E>* | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 229 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1478997848 CA390719360 |
229 | E>V | No |
ClinGen gnomAD |
|
|
rs1375833748 CA390719344 |
231 | S>I | No |
ClinGen gnomAD |
|
|
rs147713285 CA7288906 |
232 | N>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7288905 rs752491967 |
232 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1196398911 CA390719335 |
233 | P>T | No |
ClinGen gnomAD |
|
|
rs1001798010 CA263855232 |
234 | P>A | No |
ClinGen Ensembl |
|
|
rs150041049 CA7288904 |
234 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 234 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7288902 rs776534087 |
235 | P>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 237 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766367695 CA390719311 |
237 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766367695 CA7288901 |
237 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760142895 CA7288900 |
237 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1379217158 CA390719295 |
239 | L>R | No |
ClinGen gnomAD |
|
|
CA390719280 rs1307126902 |
241 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7288897 rs747786340 |
244 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1046096277 CA263855202 |
245 | L>F | No |
ClinGen Ensembl |
|
|
CA263855195 rs369074704 |
249 | L>F | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 250 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7288895 rs775856375 |
251 | G>* | No |
ClinGen ExAC gnomAD |
|
|
rs770065843 CA7288894 |
252 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA390719176 rs1251836137 |
253 | Y>C | No |
ClinGen TOPMed |
|
|
CA390719128 rs1190455347 |
256 | E>G | No |
ClinGen TOPMed |
|
|
CA390719121 rs1353829006 |
257 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1013785889 CA263855179 |
259 | D>H | No |
ClinGen Ensembl |
|
|
rs781763851 CA7288892 |
261 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs759435504 CA7288891 |
262 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7288890 CA390719036 rs747063740 |
263 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA7288889 rs375918637 |
265 | K>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7288888 rs62639706 RCV000888175 |
266 | G>E | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs147260299 COSM3690217 CA7288887 |
267 | E>D | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA390718985 rs1206275236 |
267 | E>K | No |
ClinGen gnomAD |
|
|
rs909098129 CA263855148 |
268 | E>* | No |
ClinGen TOPMed |
|
| TCGA novel | 272 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 272 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs988585730 CA263855147 |
272 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs753670035 CA7288884 |
273 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA390718875 rs1446002386 |
274 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1030189412 CA263855127 |
274 | D>E | No |
ClinGen TOPMed |
|
|
CA390718872 rs1446002386 |
274 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1338515053 CA390718858 |
275 | Y>C | No |
ClinGen gnomAD |
|
|
CA263855125 rs866927624 |
276 | P>T | No |
ClinGen Ensembl |
|
|
CA390718825 rs1420278568 |
278 | E>Q | No |
ClinGen gnomAD |
|
|
rs766940082 CA7288880 |
279 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7288878 rs773860344 |
281 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA390718768 rs1183244721 |
282 | G>D | No |
ClinGen gnomAD |
|
|
CA263855072 rs751383657 |
285 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs751383657 CA7288877 |
285 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA7288876 rs746205247 |
287 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA7288874 rs771516108 |
291 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA390718620 rs1284504056 |
292 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1284504056 CA390718622 |
292 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7288873 rs747554077 |
294 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA7288872 rs372119560 |
294 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7288871 rs368356491 |
296 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs748323494 CA7288870 |
296 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7288867 rs766117610 |
298 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA7288866 rs779855060 |
300 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7288865 rs755978082 |
301 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA263855001 rs913382126 |
307 | D>H | No |
ClinGen Ensembl |
|
|
CA390718398 rs1474070479 |
308 | Q>* | No |
ClinGen TOPMed |
|
|
CA7288863 rs200100459 COSM4148279 |
310 | W>C | thyroid [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA390718342 rs1166227114 |
312 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1166227114 CA390718340 |
312 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA390718338 rs1166227114 |
312 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs761226980 CA7288862 |
313 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs139393604 CA7288859 |
314 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7288860 rs139393604 |
314 | G>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs761209212 CA7288856 |
315 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1479678861 CA390718311 |
315 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA7288855 rs773582256 |
316 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA390718280 rs1594948560 |
317 | V>G | No |
ClinGen Ensembl |
|
|
rs1490641196 CA390718283 |
317 | V>I | No |
ClinGen gnomAD |
|
|
rs1034540372 CA263854961 |
319 | K>E | No |
ClinGen gnomAD |
|
|
rs772672008 CA7288854 |
319 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390718263 rs1594948553 |
320 | D>N | No |
ClinGen Ensembl |
|
|
CA390718250 rs1451317129 |
321 | S>F | No |
ClinGen gnomAD |
|
|
rs748152386 CA7288853 |
322 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779068696 CA7288852 |
323 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768822113 CA390718231 |
324 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7288850 COSM1516053 rs749516021 |
325 | D>N | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
|
CA390718228 rs749516021 |
325 | D>Y | No |
ClinGen ExAC |
|
|
rs143880556 CA7288816 |
326 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA263852298 rs373342689 |
326 | Y>C | No |
ClinGen Ensembl |
|
|
CA7288815 rs142301765 |
327 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA263852284 rs866561453 |
328 | P>L | No |
ClinGen Ensembl |
|
|
CA390718031 rs1566753168 |
329 | Q>* | No |
ClinGen Ensembl |
|
|
CA7288814 rs774907663 |
330 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA390717986 rs1207979593 |
331 | E>D | No |
ClinGen gnomAD |
|
|
CA7288813 rs764650251 |
331 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA263852263 rs747806039 |
332 | W>* | No |
ClinGen Ensembl |
|
|
rs1311508587 CA390717961 |
333 | S>G | No |
ClinGen gnomAD |
|
|
rs762987955 CA7288812 |
333 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775596584 CA7288811 |
334 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 337 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769956522 CA7288810 |
339 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs556504033 CA7288809 |
339 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7288807 rs770777455 |
341 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1361699415 CA390717803 |
344 | T>S | No |
ClinGen gnomAD |
|
|
rs746571979 CA263852222 |
345 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA7288805 rs777851932 |
347 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA7288804 rs370923800 |
348 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1188517040 CA390717762 |
349 | R>K | No |
ClinGen gnomAD |
|
|
rs1405769684 CA390717759 |
349 | R>S | No |
ClinGen gnomAD |
|
|
CA263852202 rs1025505905 |
350 | T>A | No |
ClinGen Ensembl |
|
|
CA390717737 rs1005045450 |
351 | R>P | No |
ClinGen TOPMed |
|
|
CA263852187 rs1005045450 |
351 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA7288803 rs747609625 |
351 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390717728 rs1479082265 |
352 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA390717690 rs1258041800 |
354 | G>A | No |
ClinGen gnomAD |
|
|
CA390717691 rs1258041800 |
354 | G>D | No |
ClinGen gnomAD |
|
|
rs145388685 CA7288801 |
355 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7288802 rs778593023 |
355 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA7288800 rs753540777 |
356 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA390717634 rs1594946382 |
357 | C>W | No |
ClinGen Ensembl |
|
|
rs1350865763 CA390717563 |
361 | E>D | No |
ClinGen gnomAD |
|
|
CA263852150 rs756988588 |
361 | E>K | No |
ClinGen TOPMed |
|
|
rs201891133 CA7288798 |
363 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201891133 CA263852143 |
363 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7288797 rs751960369 |
363 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764564339 CA7288796 |
364 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA390717505 rs1311079449 |
365 | C>Y | No |
ClinGen gnomAD |
|
|
rs866194903 CA263852111 |
366 | D>N | No |
ClinGen Ensembl |
|
| TCGA novel | 368 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs950218728 CA263852107 |
369 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1315924417 CA390717420 |
371 | P>A | No |
ClinGen TOPMed |
|
|
rs1361660117 CA390717381 |
373 | T>I | No |
ClinGen TOPMed |
|
|
rs1452449485 CA390717360 |
375 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 376 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1457897929 CA390717335 |
376 | K>R | No |
ClinGen gnomAD |
|
|
CA7288770 rs772002505 |
377 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 377 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7288768 rs774426050 |
378 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1235981498 CA390717275 |
380 | G>S | No |
ClinGen gnomAD |
|
|
rs372029889 CA7288766 |
380 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1302701525 CA390717230 |
382 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA7288765 rs779453562 |
383 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA390717177 rs1333197315 |
385 | E>D | No |
ClinGen gnomAD |
|
|
rs149849326 CA7288764 |
387 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1395433468 CA390717138 |
388 | L>F | No |
ClinGen gnomAD |
|
|
rs1395433468 CA390717142 |
388 | L>I | No |
ClinGen gnomAD |
|
|
rs150447939 CA7288762 |
391 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7288760 rs544573417 |
391 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7288761 rs544573417 |
391 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs755490049 CA7288759 |
393 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755490049 CA7288758 |
393 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs186804111 CA7288757 |
394 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1042091960 CA263851760 |
395 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1202728040 CA390716965 |
396 | M>I | No |
ClinGen gnomAD |
|
|
rs151314881 CA7288755 |
396 | M>T | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA7288753 rs750657050 |
398 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1355953243 CA390716253 |
400 | D>E | No |
ClinGen gnomAD |
|
|
CA390716257 rs1386291506 |
400 | D>V | No |
ClinGen TOPMed |
|
|
CA390716219 rs1223454911 |
402 | D>N | No |
ClinGen gnomAD |
|
|
CA263850314 rs1001995769 |
403 | S>G | No |
ClinGen Ensembl |
|
|
rs1566752137 CA390716184 |
403 | S>I | No |
ClinGen Ensembl |
|
|
CA7288738 rs749770459 |
404 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA7288737 rs780666397 |
405 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1312201016 CA390716055 |
408 | L>M | No |
ClinGen gnomAD |
|
|
CA7288735 rs375334541 |
410 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7288734 rs201403223 |
410 | C>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs757574590 CA7288733 |
411 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA7288731 rs199870024 |
413 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1417509062 CA390715879 |
413 | D>V | No |
ClinGen gnomAD |
|
|
rs759017241 CA390715864 |
414 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
CA263850295 rs759017241 |
414 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA390715786 rs1484051533 |
418 | Y>H | No |
ClinGen TOPMed |
|
|
rs759575366 CA263850279 |
419 | L>P | No |
ClinGen Ensembl |
|
|
CA7288729 rs775278390 |
420 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1226769303 CA390715710 |
421 | Q>* | No |
ClinGen gnomAD |
|
|
rs1292408452 CA390715641 |
422 | M>I | No |
ClinGen gnomAD |
|
|
CA390715650 rs1332446349 |
422 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA390715618 rs765229490 |
424 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7288727 rs530646959 |
424 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7288728 rs765229490 |
424 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390715579 rs1594944912 |
425 | D>A | No |
ClinGen Ensembl |
|
|
CA263850257 rs142379722 |
429 | C>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs376020061 CA7288726 |
430 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7288725 rs376020061 |
430 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 430 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7288723 rs774715411 |
431 | C>* | No |
ClinGen ExAC gnomAD |
|
|
CA390715453 rs1394242271 |
431 | C>Y | No |
ClinGen gnomAD |
|
|
CA390715436 rs1302501457 |
432 | A>P | No |
ClinGen TOPMed |
|
|
CA7288722 rs768886495 |
433 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA7288721 rs749725830 |
434 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA390715398 rs1186067993 |
435 | L>M | No |
ClinGen gnomAD |
|
|
CA7288720 rs780392256 |
437 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7288719 rs745893541 |
438 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7288718 rs745893541 |
438 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1285699264 CA390715324 |
439 | D>G | No |
ClinGen TOPMed |
|
|
CA7288717 rs781452292 |
439 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 440 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7288716 rs757488139 |
441 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390715282 rs757488139 |
441 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7288714 rs751744695 |
445 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs764436686 CA263850193 |
445 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390715203 rs1367719318 |
446 | D>H | No |
ClinGen gnomAD |
|
|
CA7288711 rs200669081 |
447 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs759496677 CA7288709 |
448 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs1594944840 CA390715158 |
448 | H>P | No |
ClinGen Ensembl |
|
|
CA7288710 rs759496677 |
448 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs776082860 CA7288708 |
451 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs760288268 CA7288706 |
451 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs760288268 CA7288707 |
451 | R>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 453 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390715040 rs771795542 |
454 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7288704 rs771795542 |
454 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7288705 rs377280755 COSM958193 |
454 | R>W | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA7288702 rs776019039 |
455 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390715030 rs1437785973 |
455 | W>R | No |
ClinGen gnomAD |
|
|
CA390714961 rs1239017307 |
459 | S>G | No |
ClinGen gnomAD |
|
|
CA390714935 rs1180670512 |
460 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA390714941 rs1180670512 |
460 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7288699 rs145487294 |
460 | G>V | No |
ClinGen ESP ExAC |
|
|
CA7288697 rs370579280 |
461 | P>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7288696 rs370579280 |
461 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1458936861 CA390714918 |
461 | P>S | No |
ClinGen gnomAD |
|
|
COSM1243321 CA390714897 rs1203768633 |
462 | R>C | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs201324121 COSM2139472 CA7288695 |
462 | R>H | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs754848642 CA7288692 |
463 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA7288693 rs754848642 |
463 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs202155629 CA7288691 |
464 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs766367870 CA7288690 |
464 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202155629 CA390714872 |
464 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA390714851 rs1371675124 |
466 | D>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 466 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390714849 rs1371675124 |
466 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1297936778 CA390714837 |
467 | I>V | No |
ClinGen gnomAD |
|
|
rs760070443 CA390714811 |
468 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1361395889 CA390714782 |
470 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 471 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369653275 CA7288688 |
471 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390714776 rs1420545290 |
471 | T>S | No |
ClinGen gnomAD |
|
|
CA263850077 rs369577194 |
472 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA7288686 rs761557845 COSM371309 |
473 | R>C | lung Variant assessed as Somatic; 7.043e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs566061192 CA7288684 |
473 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA7288685 rs566061192 |
473 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA390714743 rs1566751890 |
474 | F>V | No |
ClinGen Ensembl |
|
|
CA7288682 rs777275499 |
475 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs116828050 COSM3690216 CA7288681 |
477 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA7288680 rs376794536 |
477 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1241925634 CA390714691 |
478 | S>C | No |
ClinGen gnomAD |
|
|
CA390714689 rs1241925634 |
478 | S>F | No |
ClinGen gnomAD |
|
|
CA390714656 rs1594944716 |
481 | S>P | No |
ClinGen Ensembl |
|
|
rs149710330 CA7288676 CA7288677 |
483 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390714620 rs1381713899 |
483 | E>Q | No |
ClinGen gnomAD |
|
|
rs1024745592 CA390714598 |
484 | S>C | No |
ClinGen gnomAD |
|
|
CA263850055 rs1024745592 |
484 | S>G | No |
ClinGen gnomAD |
|
|
rs1361282527 CA390714586 |
485 | S>G | No |
ClinGen gnomAD |
|
|
CA7288675 rs754758987 |
488 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs961879912 CA263850045 |
489 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA263850041 rs201164300 |
490 | Q>* | No |
ClinGen Ensembl |
|
|
CA390714505 rs1166994905 |
490 | Q>H | No |
ClinGen TOPMed |
|
|
rs560837174 CA7288673 |
490 | Q>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1424177104 CA390714497 |
491 | H>Y | No |
ClinGen gnomAD |
|
|
rs756097538 CA7288672 |
492 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1419680759 CA390714488 |
492 | C>R | No |
ClinGen gnomAD |
|
|
CA390714471 rs1348705082 |
494 | Y>C | No |
ClinGen TOPMed |
|
|
CA390714458 rs767057953 |
496 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7288670 rs767057953 |
496 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1259791010 CA390714440 |
498 | S>N | No |
ClinGen gnomAD |
|
|
CA7288667 rs139626755 |
499 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7288668 rs761314866 |
499 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7288664 rs749184036 |
503 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376070722 CA7288662 |
503 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376070722 CA7288663 |
503 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1380597305 CA390714413 |
504 | G>S | No |
ClinGen gnomAD |
|
|
CA7288660 rs773101889 |
506 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150601204 CA390714393 |
507 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7288658 rs150601204 COSM1371272 |
507 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1162504872 CA390714390 |
507 | A>V | No |
ClinGen gnomAD |
|
|
rs749032904 CA7288656 |
508 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749032904 CA7288655 COSM958191 |
508 | G>S | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs779927826 CA7288654 |
508 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7288651 rs781050081 |
509 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs745829830 CA7288652 |
509 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA390714384 rs1289011168 |
509 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs202088855 CA7288650 |
512 | L>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7288647 rs370221298 |
516 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1225798341 CA390714314 |
519 | P>L | No |
ClinGen gnomAD |
|
|
rs754218159 CA7288646 |
519 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1325949842 CA390714304 |
521 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA390714305 rs1325949842 |
521 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA390714296 rs1302037241 |
522 | H>R | No |
ClinGen gnomAD |
|
|
CA390714270 rs150114096 |
525 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7288643 rs773760758 |
526 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs373456605 CA7288641 |
527 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA390714257 rs373456605 |
527 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7288639 rs768825935 |
528 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA7288640 rs768825935 |
528 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs775089893 CA7288637 |
529 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA390714214 rs1455351258 |
534 | K>R | No |
ClinGen gnomAD |
|
|
CA390714210 rs1566751667 |
535 | G>R | No |
ClinGen Ensembl |
|
|
CA390714204 rs1206984282 |
536 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA390714194 rs1376367034 |
537 | W>R | No |
ClinGen TOPMed |
|
|
CA390714184 rs1250747086 |
538 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs553107946 CA7288636 |
539 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA7288635 rs745718518 COSM321052 |
539 | R>H | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1194633146 CA390714175 |
540 | L>F | No |
ClinGen gnomAD |
|
|
CA390714168 rs1256726952 |
541 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
CA390714159 rs1345736256 |
542 | A>T | No |
ClinGen gnomAD |
|
|
CA7288630 rs758060973 |
544 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA7288629 rs752412222 |
545 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA263849803 COSM553871 rs969461361 |
547 | N>I | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA390714129 rs969461361 |
547 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs764861643 CA263849796 |
548 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA390714123 rs1594944528 |
548 | N>T | No |
ClinGen Ensembl |
|
| TCGA novel | 549 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA390714119 rs373723599 |
549 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7288627 rs373723599 |
549 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1172723498 CA390714113 |
550 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1172723498 CA390714114 |
550 | R>G | No |
ClinGen gnomAD |
|
|
CA7288626 rs750799590 |
550 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA390714102 rs1392657363 |
551 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1407334487 CA390714095 |
551 | A>V | No |
ClinGen TOPMed |
|
|
CA390714066 rs1416468651 |
553 | T>S | No |
ClinGen TOPMed |
|
|
rs762336556 CA7288624 |
554 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs751570245 CA7288623 |
554 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA7288621 rs763077922 |
555 | N>K | No |
ClinGen ExAC TOPMed |
|
|
CA263849772 rs898005768 |
555 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7288620 rs775776727 |
556 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs759354654 CA390713967 |
560 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1484746001 CA390713982 |
560 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA7288616 rs200233020 |
562 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs770954060 CA7288615 |
563 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA390713938 rs1281128752 |
563 | A>V | No |
ClinGen gnomAD |
|
|
rs773150358 CA263849740 |
564 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA263849706 rs376890664 |
564 | Q>H | No |
ClinGen ESP TOPMed |
|
|
CA263849735 rs139128555 |
564 | Q>R | No |
ClinGen ESP TOPMed |
|
|
rs1566751553 CA390713915 |
565 | L>F | No |
ClinGen Ensembl |
|
|
rs777363954 CA7288613 |
569 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs771699784 CA7288612 |
571 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q6H9L7
1 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. |
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 |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q58T08 | ism2 | Isthmin-2 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MRALRDRAGL | LLCVLLLAAL | LEAALGLPVK | KPRLRGPRPG | SLTRLAEVSA | SPDPRPLKEE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EEAPLLPRTH | LQAEPHQHGC | WTVTEPAAMT | PGNATPPRTP | EVTPLRLELQ | KLPGLANTTL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| STPNPDTQAS | ASPDPRPLRE | EEEARLLPRT | HLQAELHQHG | CWTVTEPAAL | TPGNATPPRT |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QEVTPLLLEL | QKLPELVHAT | LSTPNPDNQV | TIKVVEDPQA | EVSIDLLAEP | SNPPPQDTLS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| WLPALWSFLW | GDYKGEEKDR | APGEKGEEKE | EDEDYPSEDI | EGEDQEDKEE | DEEEQALWFN |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GTTDNWDQGW | LAPGDWVFKD | SVSYDYEPQK | EWSPWSPCSG | NCSTGKQQRT | RPCGYGCTAT |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ETRTCDLPSC | PGTEDKDTLG | LPSEEWKLLA | RNATDMHDQD | VDSCEKWLNC | KSDFLIKYLS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| QMLRDLPSCP | CAYPLEAMDS | PVSLQDEHQG | RSFRWRDASG | PRERLDIYQP | TARFCLRSML |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SGESSTLAAQ | HCCYDEDSRL | LTRGKGAGMP | NLISTDFSPK | LHFKFDTTPW | ILCKGDWSRL |
| 550 | 560 | 570 | |||
| HAVLPPNNGR | ACTDNPLEEE | YLAQLQEAKE | Y |