Q06033
PR
Gene name |
ITIH3 |
Protein name |
Inter-alpha-trypsin inhibitor heavy chain H3 |
Names |
ITI heavy chain H3, ITI-HC3, Inter-alpha-inhibitor heavy chain 3, Serum-derived hyaluronan-associated protein, SHAP |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:3699 |
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 Q06033
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q06033-F1 | Predicted | AlphaFoldDB |
757 variants for Q06033
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA353165411 rs1357039581 |
3 | F>L | No |
ClinGen gnomAD |
|
|
CA74792581 rs916597070 |
3 | F>S | No |
ClinGen TOPMed |
|
|
rs546733679 CA2447835 |
5 | W>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA353165582 rs1277472309 |
7 | P>S | No |
ClinGen gnomAD |
|
|
rs373235618 CA74792589 |
8 | C>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA74792593 rs775358463 |
8 | C>Y | No |
ClinGen Ensembl |
|
|
CA74792596 rs948144050 |
10 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
CA2447836 rs746556196 |
10 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1578749578 CA353165764 |
11 | L>W | No |
ClinGen Ensembl |
|
|
rs560024879 CA2447838 |
16 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA353165963 rs1193108960 |
17 | L>F | No |
ClinGen gnomAD |
|
|
rs745624330 CA2447839 |
17 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353165980 rs1270227499 |
18 | A>P | No |
ClinGen gnomAD |
|
|
rs1481728215 CA353166011 |
19 | A>V | No |
ClinGen gnomAD |
|
|
CA2447840 rs769603753 |
20 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA353166047 rs1424930264 |
21 | G>D | No |
ClinGen gnomAD |
|
|
CA2447841 rs775635272 |
22 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA2447842 rs528961799 |
23 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs990952091 CA74792608 |
24 | R>K | No |
ClinGen Ensembl |
|
|
CA2447844 rs774478674 |
25 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353166183 rs1345104807 |
26 | P>L | No |
ClinGen TOPMed |
|
|
rs754420593 CA74792611 |
27 | F>L | No |
ClinGen gnomAD |
|
|
rs1176970922 CA353166206 |
27 | F>S | No |
ClinGen TOPMed |
|
|
CA2447846 COSM1255063 rs768027400 |
28 | R>Q | Variant assessed as Somatic; 0.0 impact. oesophagus large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs376872714 CA2447845 |
28 | R>W | Variant assessed as Somatic; 4.652e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA353166516 rs1207043226 |
33 | R>Q | No |
ClinGen gnomAD |
|
|
CA2447862 rs113141688 |
33 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1236760612 CA353166555 |
35 | L>P | No |
ClinGen gnomAD |
|
|
CA74792808 rs771419128 |
36 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA353166566 rs771419128 |
36 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
COSM731883 rs771419128 CA74792807 |
36 | P>R | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA2447863 rs768902469 |
36 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA353166580 rs1160349241 |
37 | E>A | No |
ClinGen TOPMed |
|
|
CA353166594 CA2447867 rs772056909 |
38 | G>R | No |
ClinGen ExAC TOPMed |
|
|
rs759898100 CA2447890 |
39 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1346622302 CA353167814 |
40 | A>V | No |
ClinGen gnomAD |
|
|
CA2447891 rs569759721 |
41 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376686824 CA2447894 |
44 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369716726 CA2447895 |
46 | Y>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1477482931 CA353168013 |
47 | S>G | No |
ClinGen gnomAD |
|
|
CA2447896 rs146768802 |
48 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs146768802 CA2447897 |
48 | T>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2447898 rs115714636 |
49 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2447899 rs754735609 |
49 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA74793090 rs778567533 |
50 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA2447901 rs536273396 |
51 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs758523734 CA2447902 |
52 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA2447904 rs747043264 |
56 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA353168367 rs1007473396 |
57 | R>C | No |
ClinGen TOPMed |
|
|
CA74793103 rs1007473396 |
57 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs369217264 CA2447905 |
57 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1230539915 CA353168475 COSM731881 |
60 | H>Y | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA2447907 rs777224219 |
61 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770403496 CA353168584 |
61 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746370174 CA2447908 |
61 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA74793112 rs575769838 |
66 | R>G | No |
ClinGen 1000Genomes |
|
| TCGA novel | 67 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2447911 rs200381646 COSM1047168 |
68 | V>I | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1431220365 CA353168812 |
70 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM1566677 CA2447912 rs192350744 |
70 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs772884997 CA2447913 |
71 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1421799872 CA353168870 |
72 | D>H | No |
ClinGen gnomAD |
|
|
CA2447915 rs765876812 |
73 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs377495994 CA2447916 |
73 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 74 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1472630749 CA353169007 |
75 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 75 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752399505 CA2447919 |
76 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs778089988 CA2447921 |
77 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs758241607 CA2447920 |
77 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353169149 rs1352359483 |
79 | F>L | No |
ClinGen gnomAD |
|
|
CA2447922 rs747249814 |
82 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA2447923 rs757342819 |
84 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs1208994387 CA353169401 |
85 | K>E | No |
ClinGen gnomAD |
|
|
CA2447925 rs746021452 |
86 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370898130 CA74793134 COSM1047170 |
86 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD |
|
rs1379707887 CA353169503 |
88 | F>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1167056115 CA353169637 |
92 | F>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 95 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs965354359 CA74793176 |
95 | T>P | No |
ClinGen Ensembl |
|
|
rs1212519658 CA353169788 |
95 | T>S | No |
ClinGen gnomAD |
|
|
CA2447948 rs769216560 |
97 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2447947 rs769216560 |
97 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs770535549 CA2447950 |
98 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2447951 rs770535549 |
98 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758918791 CA2447952 |
101 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA2447953 rs550195417 |
102 | P>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1450541115 CA353169929 |
103 | G>R | No |
ClinGen TOPMed |
|
|
rs912141716 CA74793191 |
105 | V>I | No |
ClinGen TOPMed |
|
|
CA353169984 rs912141716 |
105 | V>L | No |
ClinGen TOPMed |
|
|
rs1559469958 CA353170036 |
106 | K>N | No |
ClinGen Ensembl |
|
|
rs1309075809 CA353170033 |
106 | K>T | No |
ClinGen TOPMed |
|
|
rs762982835 CA2447956 |
107 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353170039 rs1177807333 |
107 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2447957 rs140415474 |
108 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2447958 rs751382902 |
110 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA2447960 rs767596059 |
114 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1288275111 CA353170344 |
118 | A>D | No |
ClinGen gnomAD |
|
|
CA2447961 rs750682460 |
118 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756091900 CA2447962 |
121 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353170420 rs1252986006 |
122 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA2447963 rs780176003 |
123 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA2447964 rs532663698 |
124 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2447967 rs779431612 |
125 | A>T | No |
ClinGen ExAC |
|
|
rs184879946 CA2447971 COSM1495640 |
126 | G>S | kidney [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC gnomAD |
|
rs1361905694 CA353170557 |
128 | V>D | No |
ClinGen gnomAD |
|
|
CA2447972 rs769403309 |
128 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA353170579 rs1297495465 |
129 | K>R | No |
ClinGen gnomAD |
|
|
rs1239588090 CA353170776 |
132 | G>R | No |
ClinGen gnomAD |
|
|
rs369134306 CA2447991 |
133 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA353170794 rs1456210389 |
133 | R>W | No |
ClinGen gnomAD |
|
|
rs748770625 CA2447993 |
134 | K>N | No |
ClinGen ExAC TOPMed |
|
|
CA74793319 rs373083153 |
136 | E>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA2447995 rs146427938 |
137 | K>T | No |
ClinGen 1000Genomes ExAC |
|
|
rs1417148752 CA353171021 |
139 | T>I | No |
ClinGen gnomAD |
|
|
CA2447998 rs771958570 |
141 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs900467946 CA74793334 |
142 | V>I | No |
ClinGen gnomAD |
|
|
CA353171184 rs1334840654 |
143 | N>D | No |
ClinGen gnomAD |
|
|
rs760424129 CA2448001 |
144 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA2448000 rs760424129 |
144 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1319265316 CA353171289 |
146 | A>T | No |
ClinGen gnomAD |
|
|
CA2448002 rs776859724 |
146 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353171304 rs1268683253 |
147 | G>A | No |
ClinGen TOPMed |
|
|
rs759553851 CA2448003 |
147 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353171299 rs759553851 |
147 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1559470215 CA353171371 |
150 | V>L | No |
ClinGen Ensembl |
|
|
CA353171399 rs1578752075 |
151 | T>P | No |
ClinGen Ensembl |
|
|
rs775526762 CA74793345 |
151 | T>S | No |
ClinGen Ensembl |
|
|
CA353171459 rs376280958 |
153 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2448006 rs376280958 |
153 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs950147216 CA74793353 |
156 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA2448008 rs760803068 |
157 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs757597546 CA2448009 |
161 | K>E | No |
ClinGen ExAC |
|
|
rs779808384 CA2448011 |
161 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1312408102 CA353171777 |
164 | K>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 167 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353171896 COSM224872 rs1402435260 |
168 | E>K | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA74793371 rs370699238 |
169 | M>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs778551727 CA2448014 |
169 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1362052314 CA353171942 |
170 | Y>H | No |
ClinGen TOPMed |
|
|
CA353171966 rs1234489961 |
171 | L>F | No |
ClinGen gnomAD |
|
|
CA353171989 rs1256219054 |
172 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1346730685 CA353172006 |
172 | K>R | No |
ClinGen gnomAD |
|
|
CA2448015 rs563678306 |
173 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1218723654 CA353172189 |
175 | P>L | No |
ClinGen gnomAD |
|
|
CA2448016 rs772012076 |
175 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1199359958 CA353172360 |
179 | V>I | No |
ClinGen gnomAD |
|
|
rs1477177155 CA353172389 |
181 | H>N | No |
ClinGen gnomAD |
|
|
CA2448019 rs372975801 |
181 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA353172391 rs1477177155 |
181 | H>Y | No |
ClinGen gnomAD |
|
|
rs1361257285 CA353172437 |
182 | F>S | No |
ClinGen gnomAD |
|
| rs780953381 | 184 | I>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2448037 rs780953381 |
184 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353172593 rs1238985513 |
184 | I>V | No |
ClinGen gnomAD |
|
|
CA2448038 rs745713888 |
185 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA2448039 rs769972968 |
186 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353172630 rs1360644965 |
187 | D>N | No |
ClinGen TOPMed |
|
|
CA353173543 rs1167543534 |
189 | F>L | No |
ClinGen gnomAD |
|
|
rs763043771 CA2448041 |
190 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs139300508 CA2448042 |
193 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1171893686 CA353173597 CA353173596 |
193 | G>R | No |
ClinGen gnomAD |
|
|
CA353173623 rs1172191160 |
195 | S>G | No |
ClinGen TOPMed |
|
|
TCGA novel CA2448043 rs774858257 |
196 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC TOPMed gnomAD NCI-TCGA |
|
CA353173633 rs1448576790 |
196 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1426434225 CA353173632 |
196 | M>L | No |
ClinGen TOPMed |
|
|
CA353173637 rs1448576790 |
196 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
rs762224522 CA353173715 |
200 | E>G | No |
ClinGen ExAC TOPMed |
|
|
CA353173708 rs1241627585 |
200 | E>K | No |
ClinGen TOPMed |
|
|
rs762224522 CA2448045 |
200 | E>V | No |
ClinGen ExAC TOPMed |
|
|
rs1314762512 CA353173744 |
201 | A>V | No |
ClinGen gnomAD |
|
|
rs1353523952 CA353173756 |
202 | S>P | No |
ClinGen gnomAD |
|
|
rs559478524 CA74794486 |
203 | F>L | No |
ClinGen 1000Genomes |
|
|
rs750783492 CA2448047 |
205 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs528595557 CA74794490 |
206 | N>S | No |
ClinGen 1000Genomes |
|
|
rs372440070 CA2448049 |
207 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 210 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353173952 rs1313744389 |
210 | G>R | No |
ClinGen TOPMed |
|
|
rs1483617021 CA353173992 |
211 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs757857469 CA2448051 |
212 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 213 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs562327889 CA2448052 |
215 | K>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2448053 rs751136891 |
215 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs920833435 CA74794516 |
216 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs114325431 CA2448055 |
216 | S>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1045746634 CA74794524 |
219 | G>A | No |
ClinGen Ensembl |
|
|
rs769599746 CA2448059 |
221 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA353174686 rs1559470871 |
226 | F>L | No |
ClinGen Ensembl |
|
|
CA2448077 rs750378335 |
227 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs755842337 CA2448079 |
228 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755842337 CA2448078 |
228 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353174880 rs1247690144 |
231 | D>E | No |
ClinGen gnomAD |
|
|
CA353174870 rs1215462471 |
231 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA2448080 rs749168067 |
232 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369673357 CA2448081 |
233 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1361283515 CA353174932 |
233 | Q>R | No |
ClinGen TOPMed |
|
|
COSM1047176 rs779224896 CA2448082 |
234 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA2448083 rs779224896 |
234 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2448084 rs373638980 |
234 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA353175023 rs1158777273 |
236 | C>R | No |
ClinGen gnomAD |
|
|
CA353175086 rs1419137269 |
237 | P>L | No |
ClinGen gnomAD |
|
|
CA353175147 rs1382041721 |
238 | T>I | No |
ClinGen gnomAD |
|
|
CA353175188 rs1158017426 |
239 | C>Y | No |
ClinGen gnomAD |
|
|
CA353175375 rs1370588400 |
241 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1324124290 CA353175298 |
241 | D>N | No |
ClinGen gnomAD |
|
|
CA353175379 rs1426978450 |
242 | S>T | No |
ClinGen TOPMed |
|
|
rs1447585970 CA353175444 |
243 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1447585970 CA353175404 |
243 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1163561055 CA353175526 |
245 | N>H | No |
ClinGen TOPMed |
|
| TCGA novel | 246 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 249 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353175801 rs1311590430 |
251 | T>I | No |
ClinGen gnomAD |
|
|
CA353175952 rs1290966215 |
254 | V>A | No |
ClinGen gnomAD |
|
|
CA2448089 rs199634029 |
254 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA353175988 rs1323866836 |
256 | R>G | No |
ClinGen gnomAD |
|
|
CA2448090 rs763616271 |
257 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs767022370 CA2448093 |
262 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA74794973 rs902415072 |
266 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 267 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752597386 CA2448117 |
268 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs758669573 CA2448118 |
270 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1559471062 CA353176735 |
271 | H>R | No |
ClinGen Ensembl |
|
|
CA2448119 rs370980347 |
275 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370980347 CA353176780 |
275 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1208661535 CA353176800 |
276 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1208661535 CA353176797 |
276 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA353176807 rs1559471077 |
276 | Q>R | No |
ClinGen Ensembl |
|
|
CA2448120 rs751651271 |
277 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA353176826 rs1179272103 |
278 | L>F | No |
ClinGen gnomAD |
|
|
rs1328597283 CA353176870 |
281 | V>M | No |
ClinGen TOPMed |
|
|
rs570674211 CA2448123 |
282 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA353176883 rs781494651 |
282 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2448122 rs781494651 |
282 | P>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2448125 rs539289176 |
285 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs539289176 CA74794983 |
285 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA353176992 rs1433000554 |
288 | V>M | No |
ClinGen gnomAD |
|
|
rs1312797075 CA353177032 |
290 | D>A | No |
ClinGen gnomAD |
|
|
CA2448128 rs375241452 |
291 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA353177050 rs1468331524 |
291 | I>T | No |
ClinGen TOPMed |
|
|
CA353177080 rs770475192 |
292 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776067680 CA2448131 |
293 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353177132 rs1168045661 |
295 | M>V | No |
ClinGen TOPMed |
|
|
CA353177171 rs1559471109 |
297 | G>V | No |
ClinGen Ensembl |
|
|
COSM2780271 CA2448133 rs765314854 |
298 | R>Q | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs546752822 CA2448132 |
298 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1578754404 CA353177181 |
299 | K>E | No |
ClinGen Ensembl |
|
|
rs752507403 CA2448134 |
301 | E>G | No |
ClinGen ExAC |
|
|
rs762870922 CA2448135 |
302 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs764364629 CA2448136 |
302 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA2448161 rs754345398 |
304 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA2448162 rs755542139 |
305 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA2448163 rs779319143 |
306 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353177319 rs779319143 |
306 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2448164 rs779319143 |
306 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353177336 rs1559471239 |
307 | L>P | No |
ClinGen Ensembl |
|
|
rs1396159513 CA353177341 |
308 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA353177343 rs1396159513 |
308 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs985103353 CA74795122 |
309 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA353177448 rs1392692743 |
312 | E>A | No |
ClinGen gnomAD |
|
|
rs1373411082 CA353177424 |
312 | E>K | No |
ClinGen gnomAD |
|
|
CA353177436 rs1392692743 |
312 | E>V | No |
ClinGen gnomAD |
|
| TCGA novel | 313 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1243024737 CA353177473 |
313 | D>Y | No |
ClinGen TOPMed |
|
|
rs756902170 CA2448165 |
314 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2448166 rs3617 VAR_049647 |
315 | Q>K | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2448167 rs374644581 |
315 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1578754807 CA353177620 |
318 | D>A | No |
ClinGen Ensembl |
|
|
CA353177638 rs1332868782 |
319 | Y>H | No |
ClinGen gnomAD |
|
|
CA353177670 rs1378387371 |
321 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
CA353177704 rs937822472 |
323 | I>L | No |
ClinGen gnomAD |
|
|
rs1194193379 CA353177714 |
323 | I>S | No |
ClinGen gnomAD |
|
|
CA74795133 rs937822472 |
323 | I>V | No |
ClinGen gnomAD |
|
|
rs749234695 CA2448170 |
324 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs774177038 CA2448172 |
325 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA2448173 rs761558025 |
326 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2448174 rs767742844 |
327 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs544210438 CA2448176 |
330 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA353177891 rs1329939488 |
331 | T>I | No |
ClinGen Ensembl |
|
|
CA353177893 rs1362964749 |
332 | W>R | No |
ClinGen TOPMed |
|
|
CA74795171 rs759134530 |
334 | E>D | No |
ClinGen Ensembl |
|
|
rs1415324924 CA353177997 |
337 | V>I | No |
ClinGen gnomAD |
|
|
CA353178017 rs1319732001 |
338 | Q>R | No |
ClinGen TOPMed |
|
|
rs753973123 CA2448179 |
339 | A>T | No |
ClinGen ExAC TOPMed |
|
|
VAR_049648 CA2448181 rs35271262 |
340 | T>M | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA74795182 rs1042500561 |
341 | P>L | No |
ClinGen Ensembl |
|
|
CA2448183 rs758711384 |
341 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs200095865 CA2448186 |
342 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1486251558 CA353178556 |
344 | L>I | No |
ClinGen gnomAD |
|
|
CA2448187 rs373955614 |
347 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2448188 rs748860080 |
347 | A>V | No |
ClinGen ExAC |
|
|
CA2448189 rs768686512 |
348 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs377554371 CA2448191 |
349 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377554371 CA2448192 |
349 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs568928822 CA2448195 |
352 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs190237910 CA2448196 |
354 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1559471356 CA353178711 |
356 | D>N | No |
ClinGen Ensembl |
|
|
CA353178716 rs1373604781 |
356 | D>V | No |
ClinGen gnomAD |
|
|
CA2448197 rs776658926 |
357 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353178807 rs1177705819 |
360 | T>N | No |
ClinGen gnomAD |
|
|
rs775707055 CA2448218 |
362 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA353178819 rs1410120514 |
362 | I>V | No |
ClinGen gnomAD |
|
|
CA353178836 rs1559471576 |
364 | D>G | No |
ClinGen Ensembl |
|
|
rs940642869 CA74795424 |
365 | G>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 366 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs548752822 CA2448221 |
367 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA74795432 rs942738019 |
368 | R>W | No |
ClinGen Ensembl |
|
|
CA353178865 rs1281752158 |
369 | G>C | No |
ClinGen gnomAD |
|
|
rs1041278548 CA74795437 |
369 | G>D | No |
ClinGen gnomAD |
|
|
CA2448223 rs374517492 |
371 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA353178908 rs1215193075 |
372 | M>T | No |
ClinGen gnomAD |
|
|
rs1335003953 CA353178902 COSM1211062 |
372 | M>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1450504005 CA353178949 |
375 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1204664106 CA353178953 |
376 | A>P | No |
ClinGen gnomAD |
|
|
CA2448224 rs753561679 |
377 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA74795440 rs753561679 |
377 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353178964 rs146731697 |
377 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146731697 CA2448225 |
377 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA353178974 rs1418321014 |
378 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA353178969 rs1559471633 |
378 | E>K | No |
ClinGen Ensembl |
|
|
rs1476096882 CA353178979 |
379 | E>K | No |
ClinGen gnomAD |
|
|
rs1163051996 CA353178997 |
380 | H>Y | No |
ClinGen gnomAD |
|
|
CA353179018 rs1392256319 |
381 | R>S | No |
ClinGen gnomAD |
|
|
rs201231777 CA2448227 |
383 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2448226 rs201231777 |
383 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1390342704 CA353179037 |
383 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA2448228 rs531491473 |
384 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1353227917 CA353179068 |
386 | S>N | No |
ClinGen gnomAD |
|
|
rs1442124291 CA353179087 |
387 | T>I | No |
ClinGen gnomAD |
|
|
CA2448229 rs777717653 |
390 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA353179127 rs1291031410 |
391 | I>N | No |
ClinGen gnomAD |
|
|
rs1291031410 CA353179129 |
391 | I>T | No |
ClinGen gnomAD |
|
|
CA2448230 rs374124181 |
393 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1325490801 CA353179173 |
395 | D>A | No |
ClinGen TOPMed |
|
|
rs1204330364 CA353179177 |
396 | G>R | No |
ClinGen gnomAD |
|
|
rs201898860 CA2448232 |
397 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA353179204 rs1185596254 |
398 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
COSM1424585 rs1368069746 CA353179209 |
398 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs770113157 CA2448234 |
399 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA2448233 rs200544958 |
399 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2448235 rs775411564 |
400 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1429258571 CA353179235 |
401 | G>S | No |
ClinGen gnomAD |
|
|
rs1194266161 CA353179315 |
403 | S>N | No |
ClinGen gnomAD |
|
|
rs1254973870 CA353179338 |
405 | P>A | No |
ClinGen gnomAD |
|
|
rs779630135 CA2448255 |
406 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 408 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1364917837 CA353179372 |
409 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA74795563 rs1037455587 |
411 | N>S | No |
ClinGen Ensembl |
|
|
rs773415108 CA2448258 |
413 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2448257 rs772751051 |
413 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2448259 rs761130232 |
415 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA353179414 rs1396017430 |
416 | I>S | No |
ClinGen gnomAD |
|
|
rs1300468975 CA353179417 |
417 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1240868597 CA353179429 COSM1047178 |
418 | G>C | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs762302420 CA2448262 |
418 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA353179432 rs1240868597 |
418 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs369942309 CA353179455 |
419 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763589005 CA2448263 |
419 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA2448265 rs761716694 |
421 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA353179514 rs1209366229 |
422 | L>* | No |
ClinGen gnomAD |
|
|
CA2448266 rs767484481 |
424 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1031369594 CA74795578 |
425 | L>P | No |
ClinGen Ensembl |
|
|
rs750146938 CA2448267 |
426 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA2448269 rs780084680 |
428 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA353179639 rs1481928517 |
429 | N>K | No |
ClinGen TOPMed |
|
|
CA2448270 rs754100378 |
430 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA353179662 rs1165192592 |
431 | L>P | No |
ClinGen gnomAD |
|
|
rs755304770 CA2448271 |
433 | Y>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 435 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1016779854 CA74795593 |
435 | F>V | No |
ClinGen TOPMed |
|
|
rs539970798 CA74795596 |
438 | N>K | No |
ClinGen 1000Genomes |
|
|
CA2448275 rs376990855 |
439 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2448274 rs573634938 |
439 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs139373830 CA2448273 |
439 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2448276 rs747277776 |
440 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2448278 rs369253803 |
442 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1289786260 CA353179875 |
442 | E>G | No |
ClinGen TOPMed |
|
|
CA353179902 CA353179900 rs1320168766 |
443 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA353179906 rs1244110167 |
444 | H>N | No |
ClinGen gnomAD |
|
|
rs1481875761 CA353179920 |
444 | H>Q | No |
ClinGen gnomAD |
|
|
COSM420352 CA74795605 rs971879359 |
444 | H>R | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
COSM174976 CA2448281 rs199816198 |
448 | R>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs199816198 CA2448280 |
448 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2448279 rs762580849 |
448 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2448282 rs377051203 |
449 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2448284 COSM2780293 rs750391616 |
449 | R>H | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA2448283 rs377051203 |
449 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760324051 CA2448285 |
450 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA2448286 rs766195670 |
451 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA2448289 rs779306140 |
456 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2448291 rs368953071 |
457 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2448292 rs374055534 |
459 | Q>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs922564713 CA353180203 |
459 | Q>P | No |
ClinGen TOPMed |
|
|
CA74795622 rs922564713 |
459 | Q>R | No |
ClinGen TOPMed |
|
|
CA2448295 rs781598200 |
461 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA74795968 rs367797376 |
465 | E>K | No |
ClinGen ESP TOPMed |
|
|
rs531405430 CA74795972 |
466 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA2448317 rs771684621 |
466 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs746529437 CA2448319 |
467 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA2448318 rs772743518 |
467 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs759335956 CA2448322 |
470 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA2448321 rs776721044 |
470 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1159595054 CA353181421 |
471 | L>P | No |
ClinGen gnomAD |
|
|
rs374128036 CA2448324 |
473 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA74795979 rs1017059317 |
474 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs79449861 CA2448326 |
477 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1206486847 CA353181494 |
479 | Y>* | No |
ClinGen TOPMed |
|
|
rs1445972495 CA353181499 |
480 | P>A | No |
ClinGen gnomAD |
|
|
rs757307789 CA2448328 |
481 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA353181537 rs1330702289 |
483 | A>T | No |
ClinGen gnomAD |
|
|
CA353181556 rs1267175925 |
484 | I>T | No |
ClinGen gnomAD |
|
|
rs1295298329 CA353181550 |
484 | I>V | No |
ClinGen TOPMed |
|
|
CA353181565 rs1468517789 |
485 | L>P | No |
ClinGen gnomAD |
|
|
rs1244863294 CA353181599 |
488 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 489 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1553623626 CA353181645 |
492 | Y>* | No |
ClinGen Ensembl |
|
|
CA2448331 rs756683414 |
492 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA353181671 rs552779818 CA353181672 |
494 | H>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1026472065 CA74795984 |
494 | H>R | No |
ClinGen TOPMed |
|
|
rs1312270680 CA353181691 |
496 | Y>C | No |
ClinGen TOPMed |
|
| TCGA novel | 500 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs528799822 CA2448333 |
502 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 503 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs548563227 CA2448334 |
503 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA353181788 rs1321703013 |
504 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2448336 rs746467290 |
505 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353181793 rs746467290 |
505 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2448337 rs770349939 |
506 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs201758291 CA2448338 |
506 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA353181806 rs1228207317 |
508 | V>M | No |
ClinGen gnomAD |
|
|
CA2448340 CA353181819 rs112611952 |
509 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA74796000 rs368235477 |
510 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2448341 rs368235477 |
510 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA353181839 rs1198551310 |
511 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1044504943 CA74796002 |
512 | M>I | No |
ClinGen Ensembl |
|
|
rs907192747 CA74796004 |
514 | S>G | No |
ClinGen TOPMed |
|
|
rs1229499908 CA353181886 |
515 | F>L | No |
ClinGen gnomAD |
|
|
rs1239419727 CA353181898 |
516 | K>Q | No |
ClinGen TOPMed |
|
|
CA74796006 rs372170151 |
517 | A>V | No |
ClinGen ESP |
|
|
rs768875683 CA2448343 |
518 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs774451347 CA2448344 |
519 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1481937514 CA353181948 |
520 | K>R | No |
ClinGen gnomAD |
|
|
rs761888667 CA2448346 |
522 | H>R | No |
ClinGen ExAC gnomAD |
|
|
RCV000955317 rs74320783 CA2448347 |
523 | G>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2448367 rs200770658 |
527 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs779093616 CA2448366 |
527 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760778569 CA2448369 |
530 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1281899347 CA353182252 |
533 | E>K | No |
ClinGen TOPMed |
|
|
rs1227559250 CA353182308 |
534 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 536 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353182341 rs1304161666 |
536 | M>L | No |
ClinGen gnomAD |
|
|
rs766807864 CA2448370 |
539 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 540 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 542 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353182550 rs1278128166 |
543 | L>M | No |
ClinGen gnomAD |
|
|
rs376275642 CA2448372 |
544 | Q>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs376275642 CA2448373 |
544 | Q>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2448374 rs750568869 |
545 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs201794632 CA2448376 |
546 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1047186 CA2448375 rs756947652 |
546 | R>W | urinary_tract endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA2448378 rs755688740 |
548 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA2448381 CA2448380 rs749165416 |
551 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1400961683 CA353182788 |
553 | Y>N | No |
ClinGen gnomAD |
|
|
rs551954367 CA2448384 |
554 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2448386 rs773430414 |
556 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs563666178 CA2448385 |
556 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs770987236 CA2448388 |
557 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA353182928 rs1351604939 |
559 | A>D | No |
ClinGen gnomAD |
|
|
rs776838700 CA2448389 |
559 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353182916 rs776838700 |
559 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1230452761 CA353182939 |
560 | Y>H | No |
ClinGen gnomAD |
|
|
rs1172294734 CA353182967 |
561 | L>F | No |
ClinGen TOPMed |
|
|
CA353183020 rs1264366469 |
563 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2448390 rs146710819 |
563 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1488555542 CA353183038 |
564 | E>K | No |
ClinGen gnomAD |
|
|
CA74796117 rs1011794810 |
565 | Q>* | No |
ClinGen Ensembl |
|
|
CA353183080 rs1270041288 |
566 | L>P | No |
ClinGen gnomAD |
|
|
CA2448394 rs767210980 |
568 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA353183147 rs1474550218 |
569 | K>M | No |
ClinGen TOPMed |
|
|
rs750113044 CA2448395 |
570 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs755887413 CA2448396 |
570 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353183155 rs750113044 |
570 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751406248 CA2448423 |
571 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA74796371 rs927055448 |
571 | K>Q | No |
ClinGen gnomAD |
|
|
rs777515178 CA2448422 |
571 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs548417682 CA74796373 |
573 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA gnomAD |
|
rs781508275 CA2448425 |
573 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs368090665 CA353183333 |
574 | H>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2448428 rs780338298 |
574 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs368090665 CA2448427 |
574 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2448426 rs201639666 |
574 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs758470609 CA74796376 |
575 | G>S | No |
ClinGen Ensembl |
|
|
CA353183347 COSM1211066 rs1559473072 |
576 | E>D | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs749806688 CA2448431 |
576 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs921017761 CA74796377 |
578 | K>T | No |
ClinGen TOPMed |
|
|
rs774831056 CA2448433 |
581 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs200665521 COSM1255059 CA2448434 |
582 | T>M | oesophagus [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs368868035 CA2448437 |
583 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776364727 CA2448436 |
583 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs373535470 CA2448439 |
584 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2448438 rs764801153 |
584 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2448440 rs762856568 |
586 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA74796385 rs914713129 |
588 | L>P | No |
ClinGen TOPMed |
|
|
CA2448443 rs757078473 |
590 | L>P | No |
ClinGen ExAC TOPMed |
|
|
CA353183686 rs1186560499 |
593 | H>Y | No |
ClinGen gnomAD |
|
|
rs1158065108 CA353183723 |
594 | F>S | No |
ClinGen TOPMed |
|
|
rs1433505888 CA353183761 |
596 | T>S | No |
ClinGen gnomAD |
|
|
CA353183793 rs1178006953 |
597 | P>L | No |
ClinGen gnomAD |
|
|
rs1465745760 CA353183813 |
598 | L>P | No |
ClinGen gnomAD |
|
|
rs1321539536 CA353183831 |
599 | T>N | No |
ClinGen gnomAD |
|
|
rs779589523 CA2448451 |
601 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353183902 rs1200784921 |
601 | M>R | No |
ClinGen TOPMed |
|
|
CA353183892 rs1200784921 |
601 | M>T | No |
ClinGen TOPMed |
|
|
rs769232549 CA2448450 COSM1645173 |
601 | M>V | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1559473182 CA353183977 |
604 | T>S | No |
ClinGen Ensembl |
|
|
CA353184043 rs1221226763 |
607 | E>K | No |
ClinGen gnomAD |
|
|
CA2448452 rs748408001 |
608 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs190544531 CA2448454 |
610 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2448455 rs759197572 |
611 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1241407926 CA353184727 |
612 | E>D | No |
ClinGen gnomAD |
|
|
rs868391701 CA74796397 |
613 | R>K | No |
ClinGen gnomAD |
|
|
CA2448457 rs774933605 |
613 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA2448458 rs762481759 |
614 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs763952834 CA2448459 |
615 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1160147017 CA353184760 |
616 | A>T | No |
ClinGen gnomAD |
|
|
rs1215215297 CA353184782 |
617 | D>G | No |
ClinGen TOPMed |
|
|
rs761713610 CA2448461 |
617 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA2448462 rs767337990 |
618 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA2448463 rs750224463 |
619 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1292359351 CA353184824 |
620 | G>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 623 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1200265488 CA353185266 |
626 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs751996598 CA2448508 |
627 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372942058 CA2448510 |
628 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754572822 CA2448512 |
629 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA2448514 rs747623968 |
631 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs777411568 CA2448516 |
632 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs771492486 CA2448515 COSM347266 |
632 | M>V | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 633 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 634 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353185536 rs1578761860 |
635 | L>V | No |
ClinGen Ensembl |
|
|
CA353186425 rs1417954670 |
637 | S>R | No |
ClinGen gnomAD |
|
|
CA353186441 rs777129863 |
638 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA2448535 rs60805548 VAR_061275 |
640 | P>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2448534 rs145473542 |
640 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2448536 rs200538783 |
644 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745601090 CA2448537 |
644 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA2448538 rs745601090 |
644 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs200538783 CA74797664 |
644 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA353186561 rs200538783 |
644 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775421192 CA2448539 |
645 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs768969705 CA2448542 |
647 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2448540 rs763054711 |
647 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA2448568 rs201509967 |
649 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1160613618 CA353186737 |
649 | D>V | No |
ClinGen TOPMed |
|
|
CA2448570 rs763781752 |
650 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs763781752 CA353186742 |
650 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs1172299203 CA353186803 |
653 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1178489911 CA353186827 |
654 | F>S | No |
ClinGen gnomAD |
|
|
CA353186837 rs1427475109 |
655 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs199731246 CA2448572 |
659 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2448574 rs559876188 |
663 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA353187034 rs559876188 |
663 | D>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2448575 rs755956525 |
664 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 666 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1400271631 CA353187205 |
669 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
COSM1047190 CA2448576 rs780070848 |
670 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs780070848 CA353187231 |
670 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375449152 CA2448578 |
671 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 672 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748362639 CA2448581 |
675 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs748362639 CA353187331 |
675 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA2448583 rs773229579 |
678 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM290059 CA2448585 rs747148462 |
678 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA2448584 rs747148462 |
678 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777208814 CA2448586 |
680 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760019650 CA2448587 |
681 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA2448588 rs770279625 |
683 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2448589 rs188228657 |
684 | V>I | No |
ClinGen 1000Genomes ExAC |
|
|
CA353187582 rs1228249746 |
687 | L>P | No |
ClinGen TOPMed |
|
|
CA2448615 rs765192821 |
688 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353187598 rs1238096819 |
689 | V>L | No |
ClinGen gnomAD |
|
|
rs758205748 CA2448617 |
691 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353187634 rs752427005 |
691 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2448616 rs752427005 |
691 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1385174184 CA353187651 |
692 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1170038282 CA353187690 |
695 | G>S | No |
ClinGen gnomAD |
|
|
CA2448618 rs777487277 |
696 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353187706 rs1365256381 |
696 | D>V | No |
ClinGen TOPMed |
|
|
CA353187727 rs1169352758 |
698 | R>G | No |
ClinGen gnomAD |
|
|
CA2448619 rs751801771 |
698 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA353187729 rs751801771 |
698 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1559474303 CA353187743 |
699 | G>D | No |
ClinGen Ensembl |
|
|
rs781311807 CA2448621 |
701 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA2448622 rs745965729 |
702 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1271692898 CA353187801 |
703 | S>P | No |
ClinGen gnomAD |
|
|
rs573470230 CA2448624 |
705 | T>A | No |
ClinGen 1000Genomes ExAC |
|
|
rs910311633 CA74798155 |
705 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs910311633 CA353187836 |
705 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA353187839 rs1200925449 |
706 | R>G | No |
ClinGen TOPMed |
|
|
CA353187844 rs1214199974 |
706 | R>K | No |
ClinGen gnomAD |
|
|
COSM257190 CA353187862 rs1431146990 |
707 | K>N | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1479852678 CA353187868 |
708 | T>A | No |
ClinGen Ensembl |
|
|
CA74798164 rs796250573 |
708 | T>I | No |
ClinGen Ensembl |
|
|
CA2448626 rs780710590 |
710 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA353187923 rs1325686510 |
711 | G>R | No |
ClinGen gnomAD |
|
|
rs749605610 CA2448627 |
712 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1170211295 CA353188011 |
715 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA353188019 rs1475328176 |
716 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs746639119 CA2448631 |
717 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA74798183 rs915073215 |
718 | A>D | No |
ClinGen Ensembl |
|
|
rs770535971 CA2448632 |
720 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs776169417 CA2448633 |
724 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA74798201 rs372901935 |
726 | V>M | No |
ClinGen Ensembl |
|
|
CA353188311 rs1404788120 |
727 | T>I | No |
ClinGen gnomAD |
|
|
rs765105261 CA2448635 |
728 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353188467 rs1275592671 |
734 | W>C | No |
ClinGen gnomAD |
|
|
CA353188476 rs1347653276 |
735 | N>D | No |
ClinGen gnomAD |
|
|
CA2448639 rs763918615 |
737 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs200247457 CA353188534 |
738 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200247457 CA2448641 |
738 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2448642 rs201797650 |
739 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs565086006 CA2448644 |
742 | F>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA353188620 rs1200066900 |
743 | S>N | No |
ClinGen gnomAD |
|
|
CA353188663 rs1269096379 |
745 | L>P | No |
ClinGen gnomAD |
|
|
rs774701240 CA74798242 |
746 | D>H | No |
ClinGen gnomAD |
|
|
rs774701240 CA353188669 |
746 | D>N | No |
ClinGen gnomAD |
|
|
rs998695795 CA74798245 |
746 | D>V | No |
ClinGen Ensembl |
|
|
CA2448645 rs780336145 |
747 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1427985282 CA353188739 |
749 | T>I | No |
ClinGen gnomAD |
|
|
VAR_049649 rs9883888 CA2448646 RCV000946742 |
751 | T>A | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA353188779 rs1160169993 |
751 | T>M | No |
ClinGen gnomAD |
|
|
rs1406707804 CA353188791 |
752 | Q>P | No |
ClinGen TOPMed |
|
|
rs779310857 CA2448648 |
753 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353188829 rs1367268721 |
754 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1367268721 CA353188828 |
754 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA74798598 rs377490145 |
756 | S>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs148156289 CA353189000 CA353189002 CA2448662 |
757 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1197232486 CA353189020 |
758 | M>I | No |
ClinGen gnomAD |
|
|
CA74798607 rs975355702 |
759 | I>M | No |
ClinGen gnomAD |
|
|
CA2448663 rs566350837 |
759 | I>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA74798604 rs566350837 |
759 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs754017644 CA2448664 |
761 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs957085629 CA74798620 |
763 | N>D | No |
ClinGen TOPMed |
|
|
rs1429297534 CA353189139 |
764 | M>T | No |
ClinGen TOPMed |
|
| TCGA novel | 766 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353189222 rs1166442745 |
769 | G>* | No |
ClinGen gnomAD |
|
|
rs779295315 CA2448667 |
769 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758680645 CA2448669 |
772 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1296710673 CA353189256 |
773 | T>A | No |
ClinGen gnomAD |
|
|
CA353189258 rs1309672376 |
773 | T>N | No |
ClinGen gnomAD |
|
|
rs745489214 CA2448671 |
775 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs779492479 CA2448673 |
776 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs373180852 CA2448672 |
776 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774168963 CA2448676 |
777 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2448678 rs771984258 |
779 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA353189319 rs1559474688 |
780 | Q>R | No |
ClinGen Ensembl |
|
|
rs1339822988 CA353189330 |
781 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1304860253 CA353189358 |
782 | W>* | No |
ClinGen gnomAD |
|
|
CA2448679 rs773178651 |
785 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA353189407 rs1372727387 |
785 | H>Y | No |
ClinGen gnomAD |
|
|
rs760955000 CA2448680 |
786 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA353189424 rs760955000 |
786 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA2448681 rs766727585 |
787 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA353189435 rs1404059805 |
787 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 788 | H>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs533586226 CA2448682 |
789 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM245084 CA2448683 rs79111339 |
789 | R>H | prostate [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1292914714 CA353189535 |
793 | G>D | No |
ClinGen gnomAD |
|
|
rs765420156 CA2448684 |
794 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA353189572 rs746050219 |
795 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353189565 rs1264429471 |
795 | Y>C | No |
ClinGen gnomAD |
|
|
CA353189560 rs1223802812 |
795 | Y>H | No |
ClinGen gnomAD |
|
|
CA2448686 rs758984412 |
796 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA353189587 rs1261254685 |
797 | V>L | No |
ClinGen gnomAD |
|
|
CA353189622 rs1486685962 |
799 | S>I | No |
ClinGen gnomAD |
|
|
CA353189628 rs1559474724 |
800 | H>D | No |
ClinGen Ensembl |
|
|
rs377425862 CA2448688 COSM4150015 |
801 | R>Q | ovary [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA2448687 rs778090412 |
801 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2448689 rs567030356 |
802 | M>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA74798748 rs940050715 |
803 | S>L | No |
ClinGen Ensembl |
|
|
rs974187237 CA353189682 |
804 | A>P | No |
ClinGen TOPMed |
|
|
CA74798761 rs974187237 |
804 | A>T | No |
ClinGen TOPMed |
|
|
rs1201910532 CA353189689 |
804 | A>V | No |
ClinGen gnomAD |
|
|
rs919921667 CA74798788 |
805 | Q>H | No |
ClinGen Ensembl |
|
|
rs184153550 CA2448690 COSM1211068 |
806 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA353189728 rs1160391990 |
807 | H>Y | No |
ClinGen gnomAD |
|
|
CA2448693 rs778551528 |
808 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768036367 CA2448692 |
808 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA2448697 rs374475717 |
810 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353190239 rs1479733836 |
811 | G>E | No |
ClinGen gnomAD |
|
|
CA353190254 rs199785782 |
812 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1367005956 CA353190243 |
812 | Q>K | No |
ClinGen TOPMed |
|
|
TCGA novel CA2448721 rs764525489 |
813 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC TOPMed gnomAD |
|
CA2448722 rs774825146 |
813 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2448723 rs373560968 |
814 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1413588708 CA353190301 |
816 | P>R | No |
ClinGen gnomAD |
|
|
CA353190297 rs1394091994 |
816 | P>S | No |
ClinGen TOPMed |
|
|
rs891569992 CA74799034 |
818 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA353190337 rs1355760046 |
819 | F>L | No |
ClinGen gnomAD |
|
|
rs769035866 CA74799046 |
820 | K>T | No |
ClinGen Ensembl |
|
|
rs1451724966 CA353190380 |
821 | V>M | No |
ClinGen TOPMed |
|
|
rs1578764572 CA353190403 |
822 | S>F | No |
ClinGen Ensembl |
|
|
VAR_049650 CA2448726 rs2710330 |
825 | R>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs200179055 CA2448725 |
825 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs938908058 CA74799059 |
826 | P>S | No |
ClinGen gnomAD |
|
|
CA353190497 rs1559474870 |
828 | S>F | No |
ClinGen Ensembl |
|
|
rs1378259850 CA353190507 |
829 | D>H | No |
ClinGen gnomAD |
|
|
CA2448730 rs752186190 |
832 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA353190579 rs1275405610 |
833 | P>A | No |
ClinGen gnomAD |
|
|
rs138738637 CA2448731 |
834 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200744873 CA2448732 |
836 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA353190630 rs746916381 |
837 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746916381 CA74799066 |
837 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA353190829 rs1338697637 |
845 | I>T | No |
ClinGen gnomAD |
|
|
CA353190848 rs1385047432 |
846 | V>A | No |
ClinGen gnomAD |
|
|
rs373075211 CA2448757 |
849 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373075211 CA2448756 |
849 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768911791 CA2448758 |
850 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA353191040 rs1320019670 |
851 | Q>H | No |
ClinGen gnomAD |
|
|
rs778914444 CA2448759 |
852 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA74799254 rs767448253 |
853 | D>G | No |
ClinGen Ensembl |
|
|
rs1050056 CA74799258 |
856 | K>R | No |
ClinGen Ensembl |
|
|
rs374829447 CA74799262 |
857 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA353191135 rs1390004408 |
857 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1455719718 CA353191158 |
858 | A>T | No |
ClinGen TOPMed |
|
|
CA2448762 VAR_049651 rs2710329 |
858 | A>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA74799269 rs376302468 |
861 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376302468 CA2448765 |
861 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2448767 rs762645645 |
862 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2448766 rs762645645 |
862 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA353191237 rs762645645 |
862 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1488205469 CA353191293 |
863 | K>N | No |
ClinGen gnomAD |
|
|
CA2448769 rs761402342 |
864 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs750367368 CA2448771 |
865 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs766997024 CA2448770 |
865 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA2448772 rs200083557 |
867 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 869 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1250740287 CA353191445 |
869 | V>G | No |
ClinGen gnomAD |
|
|
CA2448774 COSM480470 rs199755994 |
869 | V>I | lung kidney central_nervous_system [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs755152291 CA2448776 |
870 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA353191487 rs1282891329 |
871 | N>K | No |
ClinGen TOPMed |
|
|
rs779110584 CA2448779 |
873 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2448781 rs748117675 |
875 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs772190103 CA2448782 |
876 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs370379186 CA2448783 |
877 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1273503314 CA353191644 |
878 | D>A | No |
ClinGen TOPMed |
|
| TCGA novel | 879 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA353191658 rs1376854575 |
879 | G>S | No |
ClinGen gnomAD |
|
|
rs747530034 CA2448784 |
880 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs759988125 CA2448787 |
882 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759988125 CA353191717 |
882 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1323159046 CA353191744 |
884 | Y>H | No |
ClinGen TOPMed |
|
|
CA353191766 rs1470165351 |
885 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA353191774 rs1361123255 |
886 | V>A | No |
ClinGen gnomAD |
|
|
rs761437533 CA2448790 |
886 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA353191783 rs1207742802 |
887 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA2448793 rs772644105 |
890 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs537965858 CA2448792 |
891 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
No associated diseases with Q06033
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| 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. |
| platelet dense granule lumen | The volume enclosed by the membrane of the platelet dense granule. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| endopeptidase inhibitor activity | Binds to and stops, prevents or reduces the activity of an endopeptidase, any enzyme that hydrolyzes nonterminal peptide bonds in polypeptides. |
| serine-type endopeptidase inhibitor activity | Binds to and stops, prevents or reduces the activity of serine-type endopeptidases, enzymes that catalyze the hydrolysis of nonterminal peptide bonds in a polypeptide chain; a serine residue (and a histidine residue) are at the active center of the enzyme. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| hyaluronan metabolic process | The chemical reactions and pathways involving hyaluronan, the naturally occurring anionic form of hyaluronic acid, any member of a group of glycosaminoglycans, the repeat units of which consist of beta-1,4 linked D-glucuronyl-beta-(1,3)-N-acetyl-D-glucosamine. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q3T052 | ITIH4 | Inter-alpha-trypsin inhibitor heavy chain H4 | Bos taurus (Bovine) | PR |
| Q86UX2 | ITIH5 | Inter-alpha-trypsin inhibitor heavy chain H5 | Homo sapiens (Human) | PR |
| P79263 | ITIH4 | Inter-alpha-trypsin inhibitor heavy chain H4 | Sus scrofa (Pig) | PR |
| Q63416 | Itih3 | Inter-alpha-trypsin inhibitor heavy chain H3 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAFAWWPCLI | LALLSSLAAS | GFPRSPFRLL | GKRSLPEGVA | NGIEVYSTKI | NSKVTSRFAH |
| 70 | 80 | 90 | 100 | 110 | 120 |
| NVVTMRAVNR | ADTAKEVSFD | VELPKTAFIT | NFTLTIDGVT | YPGNVKEKEV | AKKQYEKAVS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QGKTAGLVKA | SGRKLEKFTV | SVNVAAGSKV | TFELTYEELL | KRHKGKYEMY | LKVQPKQLVK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| HFEIEVDIFE | PQGISMLDAE | ASFITNDLLG | SALTKSFSGK | KGHVSFKPSL | DQQRSCPTCT |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DSLLNGDFTI | TYDVNRESPG | NVQIVNGYFV | HFFAPQGLPV | VPKNVAFVID | ISGSMAGRKL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EQTKEALLRI | LEDMQEEDYL | NFILFSGDVS | TWKEHLVQAT | PENLQEARTF | VKSMEDKGMT |
| 370 | 380 | 390 | 400 | 410 | 420 |
| NINDGLLRGI | SMLNKAREEH | RIPERSTSIV | IMLTDGDANV | GESRPEKIQE | NVRNAIGGKF |
| 430 | 440 | 450 | 460 | 470 | 480 |
| PLYNLGFGNN | LNYNFLENMA | LENHGFARRI | YEDSDADLQL | QGFYEEVANP | LLTGVEMEYP |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ENAILDLTQN | TYQHFYDGSE | IVVAGRLVDE | DMNSFKADVK | GHGATNDLTF | TEEVDMKEME |
| 550 | 560 | 570 | 580 | 590 | 600 |
| KALQERDYIF | GNYIERLWAY | LTIEQLLEKR | KNAHGEEKEN | LTARALDLSL | KYHFVTPLTS |
| 610 | 620 | 630 | 640 | 650 | 660 |
| MVVTKPEDNE | DERAIADKPG | EDAEATPVSP | AMSYLTSYQP | PQNPYYYVDG | DPHFIIQIPE |
| 670 | 680 | 690 | 700 | 710 | 720 |
| KDDALCFNID | EAPGTVLRLI | QDAVTGLTVN | GQITGDKRGS | PDSKTRKTYF | GKLGIANAQM |
| 730 | 740 | 750 | 760 | 770 | 780 |
| DFQVEVTTEK | ITLWNRAVPS | TFSWLDTVTV | TQDGLSMMIN | RKNMVVSFGD | GVTFVVVLHQ |
| 790 | 800 | 810 | 820 | 830 | 840 |
| VWKKHPVHRD | FLGFYVVDSH | RMSAQTHGLL | GQFFQPFDFK | VSDIRPGSDP | TKPDATLVVK |
| 850 | 860 | 870 | 880 | ||
| NHQLIVTRGS | QKDYRKDASI | GTKVVCWFVH | NNGEGLIDGV | HTDYIVPNLF |