B0I1T2
Gene name |
MYO1G (HA2) |
Protein name |
Unconventional myosin-Ig |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:64005 |
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 B0I1T2
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
AF-B0I1T2-F1 | Predicted | AlphaFoldDB |
897 variants for B0I1T2
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
CA4246736 rs762899403 |
2 | E>D | No |
ClinGen ExAC gnomAD |
|
CA4246734 rs769523482 |
4 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 5 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA367423430 rs1472879606 |
5 | E>D | No |
ClinGen gnomAD |
|
rs374494970 CA4246733 |
5 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
rs1009219002 CA157961201 |
6 | G>V | No |
ClinGen TOPMed gnomAD |
|
rs76849948 CA4246732 |
7 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs768013797 CA4246731 |
8 | E>V | No |
ClinGen ExAC gnomAD |
|
rs1282493620 CA367423410 |
9 | Y>D | No |
ClinGen TOPMed |
|
rs1282493620 CA367423412 |
9 | Y>N | No |
ClinGen TOPMed |
|
rs746381955 CA4246730 |
12 | P>H | No |
ClinGen ExAC gnomAD |
|
CA367423373 rs1210365013 |
14 | F>S | No |
ClinGen TOPMed gnomAD |
|
CA367423362 rs771418567 |
16 | L>F | No |
ClinGen ExAC gnomAD |
|
rs1277428289 CA367423361 |
16 | L>H | No |
ClinGen TOPMed |
|
CA4246728 rs771418567 |
16 | L>V | No |
ClinGen ExAC gnomAD |
|
CA4246727 rs140641126 |
18 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1381479531 CA367423344 |
19 | Q>E | No |
ClinGen gnomAD |
|
CA367423336 rs1282619821 |
20 | V>M | No |
ClinGen gnomAD |
|
CA367423288 rs1456032916 |
26 | M>K | No |
ClinGen gnomAD |
|
CA367423290 rs1322901689 |
26 | M>V | No |
ClinGen gnomAD |
|
rs752816329 CA4246724 |
29 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs781334286 CA4246723 |
30 | Q>R | No |
ClinGen ExAC gnomAD |
|
CA367423254 rs1415275728 |
31 | L>F | No |
ClinGen gnomAD |
|
CA367423232 rs1221311302 |
32 | R>S | No |
ClinGen gnomAD |
|
rs201659933 CA4246700 |
34 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs756945855 CA4246699 |
36 | G>S | No |
ClinGen ExAC gnomAD |
|
rs1403760167 CA367423204 |
36 | G>V | No |
ClinGen gnomAD |
|
CA4246698 rs370803021 |
37 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs763720788 COSM3412096 CA4246697 |
37 | R>H | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs376133572 CA157960110 |
42 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs376133572 CA4246695 |
42 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA367423165 rs1434758148 |
43 | G>S | No |
ClinGen gnomAD |
|
CA367423146 rs1198668372 |
45 | V>G | No |
ClinGen gnomAD |
|
TCGA novel | 48 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs61739531 VAR_044013 CA4246690 |
49 | V>M | allele HA-2M; the HA-2V allele constitute the HA-2 epitope while HA-2M is not recognized by HA-2 cytotoxic T lymphocytes [UniProt] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
rs1583797810 CA367423120 |
50 | N>T | No |
ClinGen Ensembl |
|
rs1460513424 CA367423113 |
51 | P>S | No |
ClinGen TOPMed |
|
CA367423106 rs1583797801 |
52 | Y>S | No |
ClinGen Ensembl |
|
rs201545083 CA4246688 |
53 | Q>K | No |
ClinGen ExAC gnomAD |
|
CA4246687 rs769048455 |
55 | L>R | No |
ClinGen ExAC gnomAD |
|
rs747178161 CA4246686 |
56 | P>L | No |
ClinGen ExAC gnomAD |
|
rs200838066 CA157960082 |
56 | P>S | No |
ClinGen 1000Genomes |
|
CA367423076 rs1352900250 |
57 | L>P | No |
ClinGen TOPMed gnomAD |
|
rs148775890 CA367423077 |
57 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
CA367423062 rs1291223575 |
59 | G>E | No |
ClinGen TOPMed |
|
CA4246683 rs201090665 |
60 | P>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1395305645 CA367423050 |
61 | E>G | No |
ClinGen gnomAD |
|
rs62461376 CA157960062 |
62 | A>S | No |
ClinGen Ensembl |
|
rs757215110 CA367423033 |
64 | A>S | No |
ClinGen ExAC gnomAD |
|
rs757215110 CA4246681 |
64 | A>T | No |
ClinGen ExAC gnomAD |
|
rs1583797741 CA367423030 |
64 | A>V | No |
ClinGen Ensembl |
|
CA4246680 rs753620320 |
66 | Y>C | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 68 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA4246678 rs755789331 |
68 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4246677 rs752308636 |
69 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs145958021 CA4246675 |
69 | R>H | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
CA157960008 rs1025495092 |
71 | L>P | No |
ClinGen Ensembl |
|
CA4246673 rs759102137 |
72 | Y>S | No |
ClinGen ExAC gnomAD |
|
CA367422976 rs1183871224 |
73 | E>K | No |
ClinGen TOPMed gnomAD |
|
CA4246671 rs144045009 |
74 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
COSM1090025 CA4246672 rs538169011 |
74 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
CA367422963 rs1255888194 |
75 | P>L | No |
ClinGen TOPMed |
|
CA157959984 rs771794310 |
75 | P>S | No |
ClinGen Ensembl |
|
rs1209756872 CA367422960 |
76 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
TCGA novel | 79 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs895308524 CA157959975 |
79 | Y>C | No |
ClinGen TOPMed |
|
CA367422939 rs895308524 |
79 | Y>F | No |
ClinGen TOPMed |
|
CA157959972 rs969917828 |
81 | V>L | No |
ClinGen TOPMed gnomAD |
|
rs776880632 CA4246669 |
82 | A>S | No |
ClinGen ExAC gnomAD |
|
CA367422916 rs1583797602 |
83 | N>T | No |
ClinGen Ensembl |
|
CA4246668 rs769101475 |
84 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4246666 rs377581554 |
85 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA367422897 rs1446033272 |
86 | Y>C | No |
ClinGen Ensembl |
|
rs746002482 CA4246664 |
87 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1461748486 CA367422886 |
88 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs779019726 CA4246662 |
89 | M>I | No |
ClinGen ExAC gnomAD |
|
rs368929221 CA157959938 |
89 | M>L | No |
ClinGen ESP TOPMed |
|
rs1269290300 CA367422873 |
90 | K>Q | No |
ClinGen TOPMed |
|
CA4246661 rs770827963 |
91 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4246659 rs139094604 |
92 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs199877330 CA4246660 |
92 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 93 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1278788997 CA367422849 |
94 | R>G | No |
ClinGen TOPMed |
|
CA367422835 rs755842091 |
95 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4246657 rs752474007 |
96 | T>A | No |
ClinGen ExAC gnomAD |
|
CA4246656 rs146195000 |
96 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA4246655 rs146195000 |
96 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA4246654 rs146195000 |
96 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1395799151 CA367422829 |
97 | C>Y | No |
ClinGen TOPMed |
|
rs1265444844 CA367422822 |
98 | I>F | No |
ClinGen gnomAD |
|
CA4246651 rs773866590 |
99 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs764568895 CA4246650 |
102 | G>W | No |
ClinGen ExAC gnomAD |
|
rs376285247 CA157959764 |
103 | E>Q | No |
ClinGen Ensembl |
|
CA4246620 rs748025444 |
105 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA367422761 rs1270520109 |
106 | A>T | No |
ClinGen gnomAD |
|
CA4246619 rs776440562 |
107 | G>E | No |
ClinGen ExAC gnomAD |
|
rs779815381 CA4246616 |
109 | T>K | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 110 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA4246615 rs79603179 |
110 | E>K | No |
ClinGen ExAC gnomAD |
|
CA367422719 rs1562834432 |
112 | S>N | No |
ClinGen Ensembl |
|
CA367422717 rs1289002157 |
112 | S>R | No |
ClinGen gnomAD |
|
rs541825395 CA157959749 |
114 | H>Y | No |
ClinGen TOPMed |
|
CA4246613 rs778545686 |
117 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs778545686 CA367422684 |
117 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs915741324 CA157959743 |
120 | A>G | No |
ClinGen TOPMed |
|
rs372361298 CA4246611 |
120 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs202131850 CA157959733 |
121 | A>S | No |
ClinGen Ensembl |
|
rs369562485 CA4246610 |
124 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1413366209 CA367422635 |
125 | P>S | No |
ClinGen gnomAD |
|
rs1470917691 CA367422594 |
130 | E>D | No |
ClinGen gnomAD |
|
rs751862160 CA4246608 |
132 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 133 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA4246607 rs766661597 |
133 | R>T | No |
ClinGen ExAC |
|
CA367422558 rs1269762882 |
134 | V>D | No |
ClinGen TOPMed gnomAD |
|
CA367422535 rs1460734918 |
137 | V>G | No |
ClinGen gnomAD |
|
CA4246592 rs201682799 |
137 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA367422510 rs1248541005 |
141 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA367422508 rs1170701280 |
142 | T>A | No |
ClinGen TOPMed |
|
rs933845034 CA367422506 |
142 | T>I | No |
ClinGen TOPMed gnomAD |
|
CA157959254 rs933845034 |
142 | T>S | No |
ClinGen TOPMed gnomAD |
|
rs781753632 CA4246591 |
143 | C>R | No |
ClinGen ExAC gnomAD |
|
CA4246590 rs149320563 |
143 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs780229491 CA4246588 |
144 | V>M | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 145 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1386001080 CA367422479 |
147 | A>T | No |
ClinGen TOPMed |
|
rs1318754883 CA367422456 |
150 | N>S | No |
ClinGen Ensembl |
|
rs750576329 CA4246585 |
152 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4246584 rs138665059 |
152 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
CA367422443 rs138665059 |
152 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1583796138 CA367422442 |
153 | T>P | No |
ClinGen Ensembl |
|
rs1345130239 CA367422432 |
154 | N>S | No |
ClinGen gnomAD |
|
CA4246582 rs761496818 |
155 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4246581 rs764134145 COSM1450978 |
155 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
CA367422425 rs764134145 |
155 | R>L | No |
ClinGen ExAC gnomAD |
|
rs760508039 CA4246580 |
156 | N>S | No |
ClinGen ExAC gnomAD |
|
CA367422413 rs1443650788 |
157 | H>R | No |
ClinGen gnomAD |
|
rs1419921255 CA367422406 |
158 | N>T | No |
ClinGen gnomAD |
|
CA367422397 rs1583796068 |
159 | S>F | No |
ClinGen Ensembl |
|
CA4246579 rs775378186 |
159 | S>P | No |
ClinGen ExAC gnomAD |
|
CA157959199 rs983810090 COSM400676 |
161 | R>C | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
rs771955737 CA4246578 |
161 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4246576 rs774092283 |
163 | G>R | No |
ClinGen ExAC gnomAD |
|
rs1224686153 CA367422368 |
164 | K>R | No |
ClinGen TOPMed |
|
rs770696573 CA4246575 |
165 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs748844106 CA4246574 |
167 | D>V | No |
ClinGen ExAC |
|
rs1305178170 CA367422329 |
169 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs1583796011 CA367422325 |
170 | F>V | No |
ClinGen Ensembl |
|
rs1468066992 CA367422291 |
174 | G>A | No |
ClinGen TOPMed |
|
CA4246572 rs150595238 |
174 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA4246571 rs150595238 |
174 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1213236080 CA367422276 |
176 | P>L | No |
ClinGen gnomAD |
|
rs1583795956 CA367422274 |
177 | I>V | No |
ClinGen Ensembl |
|
CA4246569 rs758703751 |
178 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1366837300 CA367422264 |
178 | G>V | No |
ClinGen gnomAD |
|
rs779172188 CA4246567 |
181 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4246565 rs200185437 |
186 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs757493511 CA4246546 |
189 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs777917603 CA4246545 |
190 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs777917603 CA367422176 |
190 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs777917603 CA4246544 COSM1090021 |
190 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA367422177 rs1205985181 |
190 | R>W | No |
ClinGen gnomAD |
|
TCGA novel | 192 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA367422159 rs1203998039 |
193 | K>R | No |
ClinGen gnomAD |
|
CA367422153 rs1234875645 |
194 | Q>* | No |
ClinGen TOPMed |
|
CA367422155 rs1234875645 |
194 | Q>E | No |
ClinGen TOPMed |
|
rs535530112 CA4246542 |
195 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4246541 COSM283059 rs767632037 |
196 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
TCGA novel | 197 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 201 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA4246538 rs761378235 |
203 | A>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA4246539 rs761378235 |
203 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA157958893 rs761378235 |
203 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4246537 rs762667215 |
205 | Y>* | No |
ClinGen ExAC gnomAD |
|
rs1337132547 CA367422068 |
206 | Q>R | No |
ClinGen gnomAD |
|
CA367422037 rs1314998636 |
209 | R>S | No |
ClinGen TOPMed |
|
TCGA novel | 210 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs774786191 CA4246512 |
211 | S>N | No |
ClinGen ExAC gnomAD |
|
rs771458391 CA4246511 |
212 | E>K | No |
ClinGen ExAC gnomAD |
|
CA367422010 rs1223524496 |
213 | D>G | No |
ClinGen TOPMed |
|
CA367421990 rs1260341217 |
216 | L>V | No |
ClinGen gnomAD |
|
rs1291897339 CA367421982 |
217 | H>R | No |
ClinGen gnomAD |
|
CA367421984 rs1487704049 |
217 | H>Y | No |
ClinGen gnomAD |
|
CA157954647 rs773599271 |
218 | E>* | No |
ClinGen ExAC gnomAD |
|
CA4246507 rs145240682 |
218 | E>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs145240682 CA4246508 |
218 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA4246509 rs773599271 |
218 | E>K | No |
ClinGen ExAC gnomAD |
|
rs371408293 CA367421960 |
220 | H>Q | No |
ClinGen ESP ExAC gnomAD |
|
rs138286002 CA4246505 |
220 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1470198210 CA367421927 |
223 | R>G | No |
ClinGen TOPMed |
|
rs779921725 CA367421920 |
223 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs779921725 CA4246503 |
223 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA367421899 rs1381701299 |
225 | P>T | No |
ClinGen gnomAD |
|
rs778721252 CA4246501 |
226 | A>P | No |
ClinGen ExAC gnomAD |
|
rs778721252 CA4246502 |
226 | A>S | No |
ClinGen ExAC gnomAD |
|
rs778721252 CA4246500 |
226 | A>T | No |
ClinGen ExAC gnomAD |
|
rs149988287 CA4246499 |
226 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1038376929 CA157954619 |
229 | N>D | No |
ClinGen TOPMed gnomAD |
|
CA367421849 rs1165905258 |
229 | N>S | No |
ClinGen TOPMed |
|
CA367421819 rs1365203672 |
231 | T>I | No |
ClinGen TOPMed gnomAD |
|
rs753424886 CA4246498 |
232 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA367421791 rs1371823383 |
233 | Q>H | No |
ClinGen TOPMed gnomAD |
|
CA367421781 rs1193038507 |
234 | G>A | No |
ClinGen TOPMed gnomAD |
|
rs1193038507 CA367421783 |
234 | G>E | No |
ClinGen TOPMed gnomAD |
|
CA367421788 rs1443039069 |
234 | G>R | No |
ClinGen TOPMed |
|
CA157954612 rs1002575674 |
235 | A>G | No |
ClinGen TOPMed gnomAD |
|
CA4246497 rs763609190 |
236 | G>E | No |
ClinGen ExAC gnomAD |
|
rs1315533665 CA367421730 |
239 | M>L | No |
ClinGen TOPMed |
|
CA4246496 rs565338681 |
239 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA4246495 rs752202083 |
240 | T>I | No |
ClinGen ExAC gnomAD |
|
CA367421689 COSM50559 rs1341279319 |
242 | H>Q | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs1331079679 CA367421607 |
245 | L>F | No |
ClinGen TOPMed gnomAD |
|
CA367421610 rs1334213413 |
245 | L>S | No |
ClinGen gnomAD |
|
CA367421576 rs1408903947 |
247 | S>R | No |
ClinGen gnomAD |
|
CA367421488 rs1487017478 |
254 | A>E | No |
ClinGen gnomAD |
|
rs1158645708 COSM1239528 CA367421491 |
254 | A>T | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs868581313 CA157954388 |
256 | T>I | No |
ClinGen TOPMed gnomAD |
|
rs745778626 CA4246484 |
257 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1201645863 CA367421467 |
258 | A>T | No |
ClinGen gnomAD |
|
rs1225589960 CA367421456 |
259 | M>I | No |
ClinGen gnomAD |
|
rs145850475 CA4246482 |
259 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs145850475 CA4246481 |
259 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs61742025 CA4246480 |
260 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs200568970 CA367421445 |
261 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA4246479 rs200568970 |
261 | V>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA367421442 rs1385380744 |
262 | I>V | No |
ClinGen gnomAD |
|
CA4246478 rs752201322 |
263 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA367421429 rs1346321841 |
264 | F>V | No |
ClinGen gnomAD |
|
rs1318392118 CA367421422 |
265 | S>G | No |
ClinGen gnomAD |
|
rs1343084944 CA367421415 |
266 | P>S | No |
ClinGen TOPMed |
|
CA157954339 rs199503090 |
267 | E>K | No |
ClinGen 1000Genomes |
|
CA367421372 rs1583791929 |
269 | V>G | No |
ClinGen Ensembl |
|
rs1402009966 CA367421380 |
269 | V>M | No |
ClinGen gnomAD |
|
CA367421366 rs1231794549 |
270 | E>* | No |
ClinGen TOPMed |
|
CA367421328 rs1157622831 |
273 | H>D | No |
ClinGen gnomAD |
|
CA4246476 rs576547378 |
273 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA367421312 rs1386789972 |
274 | R>C | No |
ClinGen gnomAD |
|
rs750882648 CA4246475 |
274 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs149854663 CA4246474 |
275 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs200523348 CA4246473 |
276 | L>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA367421283 rs1217998609 |
277 | A>P | No |
ClinGen gnomAD |
|
rs1562831597 CA367421277 |
277 | A>V | No |
ClinGen Ensembl |
|
CA367421273 rs1445403339 |
278 | A>T | No |
ClinGen gnomAD |
|
rs777103562 CA4246472 |
278 | A>V | No |
ClinGen ExAC gnomAD |
|
CA367421264 rs1223457342 |
279 | I>L | No |
ClinGen gnomAD |
|
CA367421262 rs1223457342 |
279 | I>V | No |
ClinGen gnomAD |
|
CA367421233 rs1268350673 |
281 | H>P | No |
ClinGen TOPMed |
|
rs900047377 CA157954320 |
281 | H>Y | No |
ClinGen TOPMed |
|
rs867736209 CA157954314 |
282 | L>P | No |
ClinGen Ensembl |
|
rs1361872538 CA367421223 |
282 | L>V | No |
ClinGen gnomAD |
|
CA4246462 rs755789533 |
286 | E>K | No |
ClinGen ExAC gnomAD |
|
CA367421114 rs1374099795 |
286 | E>V | No |
ClinGen TOPMed |
|
rs141019616 CA4246461 |
288 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs141019616 CA367421094 |
288 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA4246460 rs201309689 |
290 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
COSM313059 rs1172281136 CA367421047 |
291 | E>D | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs202161315 CA157953859 |
292 | E>K | No |
ClinGen Ensembl |
|
CA367421025 rs1463950578 |
293 | G>C | No |
ClinGen gnomAD |
|
rs1481483839 CA367420967 |
298 | E>K | No |
ClinGen gnomAD |
|
TCGA novel | 299 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1202937495 CA367420927 |
301 | A>E | No |
ClinGen gnomAD |
|
rs765884251 CA4246456 |
301 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1317833703 CA367420914 |
302 | V>A | No |
ClinGen gnomAD |
|
CA4246454 rs144037510 |
304 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA367420881 rs760984092 |
305 | E>D | No |
ClinGen ExAC gnomAD |
|
rs139240752 CA4246453 |
305 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA367420867 rs1218211374 |
306 | A>V | No |
ClinGen gnomAD |
|
rs775723751 CA4246451 |
307 | L>Q | No |
ClinGen ExAC gnomAD |
|
rs1399419760 CA367420851 |
308 | V>A | No |
ClinGen TOPMed gnomAD |
|
CA4246449 rs759730175 |
308 | V>L | No |
ClinGen ExAC gnomAD |
|
CA157953802 rs963986926 |
310 | H>Y | No |
ClinGen gnomAD |
|
CA367420790 rs1419877433 |
313 | E>K | No |
ClinGen gnomAD |
|
rs1410522053 CA367420784 |
313 | E>V | No |
ClinGen gnomAD |
|
rs1272794251 CA367420773 |
314 | L>Q | No |
ClinGen TOPMed gnomAD |
|
CA367420763 rs774267015 |
315 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs774267015 CA4246448 COSM1450975 |
315 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
CA367420761 rs774267015 |
315 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA367420735 rs1403430680 |
317 | T>I | No |
ClinGen TOPMed |
|
CA367420714 rs201269538 |
319 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA4246445 rs201269538 |
319 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA367420720 rs1322760502 |
319 | R>W | No |
ClinGen TOPMed |
|
CA4246443 rs529814356 |
322 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs754554734 CA4246441 |
324 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs762665139 COSM1450974 CA4246440 |
324 | R>H | large_intestine haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs779661449 CA4246439 |
325 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 325 | S>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs906770427 CA157953716 |
328 | A>T | No |
ClinGen gnomAD |
|
rs142047672 CA4246437 |
328 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1302326073 CA367420614 |
329 | R>C | No |
ClinGen gnomAD |
|
CA4246436 rs764567133 |
329 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 329 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA157953674 rs749976915 |
330 | T>I | No |
ClinGen ExAC gnomAD |
|
rs749976915 CA4246435 |
330 | T>R | No |
ClinGen ExAC gnomAD |
|
rs1583791040 CA367420584 |
332 | A>S | No |
ClinGen Ensembl |
|
rs905570815 CA157953641 |
333 | S>L | No |
ClinGen TOPMed gnomAD |
|
CA367420558 rs1386183561 |
334 | G>E | No |
ClinGen gnomAD |
|
CA4246432 rs374832205 |
335 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs374832205 CA367420548 |
335 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs767824357 CA4246433 |
335 | G>S | No |
ClinGen ExAC gnomAD |
|
rs374832205 CA4246431 |
335 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA367420504 rs1199362206 |
339 | I>V | No |
ClinGen gnomAD |
|
rs532010528 CA4246429 |
340 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA367420431 rs1352540528 |
344 | T>A | No |
ClinGen gnomAD |
|
CA157953596 rs757768100 |
350 | Y>H | No |
ClinGen Ensembl |
|
CA367420364 rs1338594736 |
351 | A>V | No |
ClinGen gnomAD |
|
rs768375129 CA4246424 |
352 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs768375129 CA367420359 |
352 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs776266211 CA4246425 |
352 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4246423 rs558589142 |
353 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs868866517 CA157953567 |
354 | A>V | No |
ClinGen Ensembl |
|
CA367420308 rs1470360384 |
356 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
TCGA novel | 357 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA367419954 rs1350175797 |
358 | A>G | No |
ClinGen gnomAD |
|
rs770358784 CA4246401 |
361 | Q>L | No |
ClinGen ExAC gnomAD |
|
CA4246400 rs748567359 |
362 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA367419900 rs1324315404 |
364 | F>S | No |
ClinGen gnomAD |
|
rs781626265 CA4246399 |
364 | F>V | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 366 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA157953428 rs989561733 |
366 | W>R | No |
ClinGen gnomAD |
|
rs370221955 CA4246397 |
367 | V>A | No |
ClinGen ESP ExAC |
|
rs755351228 CA4246398 |
367 | V>M | No |
ClinGen ExAC gnomAD |
|
rs1583790746 CA367419837 |
368 | V>G | No |
ClinGen Ensembl |
|
CA4246396 rs780291110 CA367419820 |
369 | N>K | No |
ClinGen ExAC gnomAD |
|
rs1400235540 CA367419828 |
369 | N>S | No |
ClinGen TOPMed |
|
rs958128215 CA157953406 |
370 | R>K | No |
ClinGen TOPMed gnomAD |
|
CA367419807 rs1319277384 |
370 | R>S | No |
ClinGen TOPMed |
|
CA4246395 rs758593558 |
373 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA157953401 rs1031615007 |
373 | S>T | No |
ClinGen TOPMed |
|
CA4246394 rs750522884 |
375 | M>T | No |
ClinGen ExAC gnomAD |
|
rs1562830928 CA367419711 |
376 | E>* | No |
ClinGen Ensembl |
|
rs1470606384 CA367419686 |
377 | P>L | No |
ClinGen gnomAD |
|
rs377745166 CA4246393 |
377 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs377745166 CA367419698 |
377 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA4246391 rs546640885 |
378 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs374351000 CA367419681 |
378 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs374351000 CA4246390 |
378 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA4246392 rs546640885 |
378 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs200247779 CA4246388 |
380 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA4246387 rs767329499 |
380 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4246389 rs200247779 |
380 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs773946753 CA4246385 |
381 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4246384 rs748813866 |
383 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4246381 rs371241303 |
383 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA4246382 rs371241303 |
383 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
COSM1450972 CA4246383 rs748813866 |
383 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
CA4246380 rs747419960 |
384 | R>C | No |
ClinGen ExAC gnomAD |
|
rs148616273 CA4246379 |
384 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1477759404 CA367419607 |
385 | D>N | No |
ClinGen TOPMed |
|
CA4246378 rs758648715 |
386 | G>S | No |
ClinGen ExAC gnomAD |
|
CA157953311 rs1022622791 |
386 | G>V | No |
ClinGen TOPMed |
|
CA367419567 rs1344538725 |
387 | K>R | No |
ClinGen gnomAD |
|
TCGA novel | 388 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs746021934 CA367419530 |
389 | T>I | No |
ClinGen ExAC gnomAD |
|
CA4246377 rs746021934 |
389 | T>K | No |
ClinGen ExAC gnomAD |
|
rs779062594 CA4246376 |
390 | V>I | No |
ClinGen ExAC TOPMed |
|
rs1297967644 CA367419503 |
391 | I>S | No |
ClinGen TOPMed |
|
rs763979006 CA4246373 |
393 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
TCGA novel | 395 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA367419441 rs1335619193 |
396 | I>N | No |
ClinGen gnomAD |
|
CA4246371 rs376644026 |
396 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
CA367419424 rs1412299151 |
397 | Y>C | No |
ClinGen gnomAD |
|
CA4246369 rs759270351 |
400 | E>K | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 400 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA367419356 rs1583790572 |
401 | V>G | No |
ClinGen Ensembl |
|
rs61740095 CA4246367 |
403 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA367419334 rs1231916019 |
403 | P>S | No |
ClinGen TOPMed |
|
rs772753676 CA4246365 |
404 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1340702590 CA367419244 |
408 | E>K | No |
ClinGen gnomAD |
|
rs1278266534 CA367419206 |
411 | C>Y | No |
ClinGen gnomAD |
|
CA4246347 rs749930736 |
412 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1401347682 CA367419196 |
412 | I>V | No |
ClinGen gnomAD |
|
CA4246346 rs764660208 |
414 | Y>H | No |
ClinGen ExAC gnomAD |
|
rs1425221749 CA367419146 |
415 | C>R | No |
ClinGen TOPMed |
|
CA4246345 rs761183049 |
416 | N>H | No |
ClinGen ExAC gnomAD |
|
rs1351334425 CA367419125 |
416 | N>S | No |
ClinGen gnomAD |
|
CA157952734 rs893067745 |
417 | E>K | No |
ClinGen Ensembl |
|
rs1404682476 CA367419102 |
418 | K>E | No |
ClinGen gnomAD |
|
CA4246342 rs771068176 |
420 | Q>* | No |
ClinGen ExAC gnomAD |
|
rs1054756115 CA157952675 |
423 | F>L | No |
ClinGen Ensembl |
|
rs1423036709 CA367418982 |
426 | L>I | No |
ClinGen TOPMed gnomAD |
|
CA4246341 rs774762623 |
426 | L>P | No |
ClinGen ExAC gnomAD |
|
rs1048268186 CA157952642 |
427 | I>V | No |
ClinGen TOPMed gnomAD |
|
CA367418919 rs1245292153 |
430 | Q>P | No |
ClinGen gnomAD |
|
rs1562830447 CA367418893 |
432 | Q>K | No |
ClinGen Ensembl |
|
rs374911863 CA4246340 |
432 | Q>R | No |
ClinGen ESP ExAC gnomAD |
|
rs749457397 CA157952633 |
433 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4246339 rs749457397 |
433 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs201604505 CA367418833 |
435 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs201080539 CA157952630 |
435 | Y>F | No |
ClinGen 1000Genomes |
|
CA367418825 rs545754641 |
436 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs545754641 CA4246336 |
436 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs545754641 CA4246337 |
436 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
CA4246335 rs781350023 |
437 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4246334 rs199915467 |
437 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs138418256 CA4246332 |
438 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA367418777 rs1353491925 |
439 | G>D | No |
ClinGen TOPMed |
|
TCGA novel | 439 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA4246330 rs199914832 |
441 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA4246331 rs199914832 |
441 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs758264063 CA4246310 |
445 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA367418599 rs1583789775 |
447 | Y>D | No |
ClinGen Ensembl |
|
CA157952319 rs1042764007 |
451 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs1562830271 CA367418446 |
457 | V>A | No |
ClinGen Ensembl |
|
CA367418441 rs1286308862 |
458 | E>Q | No |
ClinGen TOPMed |
|
rs753359428 CA4246306 |
459 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4246307 rs200348996 |
459 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA4246305 rs763526010 |
462 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA367418378 rs1353993162 |
462 | R>H | No |
ClinGen TOPMed gnomAD |
|
CA367418374 rs1353993162 |
462 | R>L | No |
ClinGen TOPMed gnomAD |
|
rs1353993162 CA367418376 |
462 | R>P | No |
ClinGen TOPMed gnomAD |
|
rs1485581442 CA367418358 |
464 | I>L | No |
ClinGen gnomAD |
|
CA367418310 rs1313276657 |
467 | V>A | No |
ClinGen gnomAD |
|
CA367418305 rs1313276657 |
467 | V>E | No |
ClinGen gnomAD |
|
rs150434835 CA4246300 COSM746769 |
467 | V>M | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
CA4246299 rs367581527 |
468 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs909340605 CA157952298 |
469 | D>A | No |
ClinGen Ensembl |
|
rs141395808 CA367418266 |
469 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA157952288 rs985097448 |
470 | E>K | No |
ClinGen Ensembl |
|
CA4246296 rs768734596 |
472 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA157952275 rs951011944 |
472 | C>F | No |
ClinGen Ensembl |
|
TCGA novel | 474 | S>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA4246295 rs747038665 |
477 | T>A | No |
ClinGen ExAC |
|
CA367418121 rs1400821857 |
477 | T>N | No |
ClinGen TOPMed gnomAD |
|
rs1562830208 CA367418090 |
479 | T>A | No |
ClinGen Ensembl |
|
rs199731003 CA157952229 |
480 | D>G | No |
ClinGen 1000Genomes |
|
COSM1450969 CA4246293 rs771899380 |
481 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA367418045 rs745720343 |
481 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4246292 rs745720343 |
481 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA367418037 rs1369432853 |
482 | I>V | No |
ClinGen gnomAD |
|
rs201569078 CA157952185 |
485 | Q>K | No |
ClinGen TOPMed gnomAD |
|
CA574227573 rs1253392273 |
485 | Q>L | No |
ClinGen gnomAD |
|
CA367417895 rs1336442389 |
489 | M>I | No |
ClinGen TOPMed |
|
VAR_044014 CA4246290 rs3735485 |
489 | M>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA367417886 rs1583789510 |
490 | H>P | No |
ClinGen Ensembl |
|
rs1265811290 CA367417872 |
491 | H>D | No |
ClinGen gnomAD |
|
rs1357741526 CA367417863 |
491 | H>P | No |
ClinGen TOPMed |
|
CA4246289 rs748898010 |
492 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4246288 rs777168514 |
492 | R>H | No |
ClinGen ExAC gnomAD |
|
CA367417853 rs748898010 |
492 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA367417830 rs1219370510 |
493 | H>D | No |
ClinGen gnomAD |
|
CA4246285 rs766972278 |
495 | L>V | No |
ClinGen ExAC gnomAD |
|
CA367417773 rs1456831932 |
496 | H>R | No |
ClinGen TOPMed gnomAD |
|
rs758921531 CA4246284 |
496 | H>Y | No |
ClinGen ExAC gnomAD |
|
rs750824729 CA4246283 |
497 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs750824729 CA367417753 |
497 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4246282 rs765659912 |
498 | T>P | No |
ClinGen ExAC gnomAD |
|
rs1477892136 CA367417703 |
499 | S>R | No |
ClinGen gnomAD |
|
CA4246281 rs762149642 |
500 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4246280 rs777044357 |
500 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA367417687 rs777044357 |
500 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA367417678 rs1446076912 |
501 | Q>* | No |
ClinGen gnomAD |
|
TCGA novel | 501 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA4246264 rs757737951 |
502 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA157951697 rs985881592 |
506 | D>N | No |
ClinGen Ensembl |
|
CA367417499 rs1258042505 |
507 | K>N | No |
ClinGen gnomAD |
|
CA367417493 rs1240278479 |
508 | T>P | No |
ClinGen TOPMed |
|
rs754150092 CA367417465 |
509 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs754150092 CA4246263 |
509 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA367417475 rs1256080545 |
509 | M>V | No |
ClinGen gnomAD |
|
CA4246261 rs760750378 |
513 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs141469545 CA4246260 |
513 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
rs146602744 CA4246258 |
516 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA4246259 rs372731729 |
516 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA367417337 rs1326242797 |
517 | I>F | No |
ClinGen gnomAD |
|
rs774318946 CA4246257 |
518 | K>E | No |
ClinGen ExAC gnomAD |
|
rs1460482427 CA367417308 |
519 | H>L | No |
ClinGen TOPMed |
|
rs1464235643 CA367417276 |
522 | G>R | No |
ClinGen gnomAD |
|
TCGA novel | 523 | D>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs762799551 CA4246255 |
523 | D>Y | No |
ClinGen ExAC gnomAD |
|
CA367417251 rs1441462789 |
524 | V>I | No |
ClinGen gnomAD |
|
CA4246253 rs769495251 |
525 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA367416007 rs1583787704 |
527 | S>C | No |
ClinGen Ensembl |
|
CA4246229 rs533218684 |
528 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4246228 rs749719081 |
530 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA367415953 rs1401499860 |
531 | F>L | No |
ClinGen gnomAD |
|
rs1453161607 CA367415940 |
531 | F>L | No |
ClinGen TOPMed |
|
CA157950527 rs201954673 |
531 | F>Y | No |
ClinGen Ensembl |
|
COSM1450968 rs371871174 CA4246226 |
533 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
CA4246225 rs141050106 |
537 | D>V | No |
ClinGen 1000Genomes ExAC |
|
CA4246223 rs200445653 |
545 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs201539357 COSM1090016 CA4246224 |
545 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
CA4246221 rs766410449 |
548 | Y>C | No |
ClinGen ExAC gnomAD |
|
rs1024637656 CA157950476 |
550 | S>T | No |
ClinGen TOPMed gnomAD |
|
rs202090846 CA4246203 |
551 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4246202 rs200200271 |
551 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs753691383 CA4246198 |
553 | P>R | No |
ClinGen ExAC gnomAD |
|
CA367415524 rs1583787443 |
554 | T>P | No |
ClinGen Ensembl |
|
CA157950308 rs760936897 |
554 | T>S | No |
ClinGen Ensembl |
|
rs891772891 CA157950307 |
555 | L>P | No |
ClinGen TOPMed |
|
rs552543010 CA4246196 |
556 | R>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs552543010 CA4246195 |
556 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs763941323 CA4246197 |
556 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs145495335 CA4246194 |
557 | A>S | No |
ClinGen ESP ExAC gnomAD |
|
CA157950281 rs761931000 |
558 | M>T | No |
ClinGen Ensembl |
|
rs149694733 CA4246192 |
560 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs149694733 CA4246193 |
560 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1193470170 CA367415390 |
561 | D>E | No |
ClinGen TOPMed gnomAD |
|
CA367415400 rs1168744426 |
561 | D>G | No |
ClinGen TOPMed |
|
CA4246189 rs777006572 |
562 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA4246187 rs747346222 |
565 | D>N | No |
ClinGen ExAC gnomAD |
|
CA157950263 rs751701889 |
566 | I>M | No |
ClinGen Ensembl |
|
CA4246186 rs61745695 |
567 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs772326969 CA4246185 |
567 | T>I | No |
ClinGen ExAC gnomAD |
|
CA4246184 rs745949471 |
568 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1210310349 CA367415294 |
568 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1583787370 CA367415263 |
569 | V>A | No |
ClinGen Ensembl |
|
rs200887711 CA157950254 |
572 | R>C | No |
ClinGen 1000Genomes |
|
CA4246183 rs200123999 |
572 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
CA4246182 COSM1736693 rs370788368 |
575 | T>M | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
CA157950250 rs866120405 |
576 | A>S | No |
ClinGen TOPMed |
|
rs943989631 CA157950249 |
577 | G>D | No |
ClinGen Ensembl |
|
CA367415102 rs1311308515 |
581 | K>E | No |
ClinGen gnomAD |
|
rs777829367 CA4246180 |
583 | S>C | No |
ClinGen ExAC gnomAD |
|
rs777829367 CA367415065 |
583 | S>F | No |
ClinGen ExAC gnomAD |
|
rs756012247 CA4246179 |
585 | V>M | No |
ClinGen ExAC gnomAD |
|
CA157950232 rs150942992 |
586 | A>V | No |
ClinGen ESP TOPMed |
|
CA367415018 rs1583787319 |
588 | V>G | No |
ClinGen Ensembl |
|
CA4246178 rs752533714 |
589 | E>K | No |
ClinGen ExAC gnomAD |
|
rs911328610 CA157950229 |
590 | N>K | No |
ClinGen TOPMed |
|
TCGA novel | 590 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs767130263 CA4246177 |
590 | N>T | No |
ClinGen ExAC gnomAD |
|
rs759166174 CA4246176 |
592 | A>V | No |
ClinGen ExAC gnomAD |
|
CA367414986 rs1438844982 |
594 | K>E | No |
ClinGen TOPMed gnomAD |
|
rs757972664 CA4246156 |
595 | E>G | No |
ClinGen ExAC gnomAD |
|
CA367414966 rs765921852 |
595 | E>K | No |
ClinGen ExAC gnomAD |
|
CA4246157 rs765921852 |
595 | E>Q | No |
ClinGen ExAC gnomAD |
|
CA4246154 rs764599025 |
596 | P>L | No |
ClinGen ExAC gnomAD |
|
CA4246155 rs369047872 |
596 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs373796173 CA4246151 |
599 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs373796173 CA367414941 |
599 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs139803425 CA4246150 |
600 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs774674442 CA4246149 |
600 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs774674442 CA367414934 |
600 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1336583811 CA367414923 |
602 | I>V | No |
ClinGen TOPMed |
|
CA367414913 rs1219097435 |
603 | K>R | No |
ClinGen TOPMed |
|
rs1215495179 CA367414904 |
604 | P>L | No |
ClinGen TOPMed gnomAD |
|
rs147398930 CA4246147 |
605 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs773363436 CA4246146 |
607 | D>N | No |
ClinGen ExAC gnomAD |
|
rs769857146 CA4246145 |
609 | V>G | No |
ClinGen ExAC gnomAD |
|
CA157949751 rs879939174 |
611 | G>E | No |
ClinGen TOPMed gnomAD |
|
rs748075919 CA4246144 |
614 | D>E | No |
ClinGen ExAC gnomAD |
|
TCGA novel CA157949748 rs908201402 |
615 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
rs989352151 CA157949739 |
617 | H>D | No |
ClinGen TOPMed gnomAD |
|
CA367414820 rs1562828257 |
617 | H>P | No |
ClinGen Ensembl |
|
rs754844310 CA4246142 |
619 | R>C | No |
ClinGen ExAC gnomAD |
|
rs142790224 CA4246141 |
619 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA367414799 rs779817442 |
620 | H>L | No |
ClinGen ExAC gnomAD |
|
CA4246140 rs779817442 |
620 | H>P | No |
ClinGen ExAC gnomAD |
|
CA4246139 rs757988932 |
621 | Q>* | No |
ClinGen ExAC gnomAD |
|
CA367414795 rs757988932 |
621 | Q>E | No |
ClinGen ExAC gnomAD |
|
CA157949722 rs377158095 |
621 | Q>L | No |
ClinGen ESP TOPMed gnomAD |
|
CA4246138 rs749940574 |
622 | V>I | No |
ClinGen ExAC gnomAD |
|
rs374130084 CA4246136 |
623 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs753295216 CA4246135 |
625 | L>V | No |
ClinGen ExAC gnomAD |
|
CA4246134 rs140521361 |
627 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA |
CA367414737 rs1272594233 |
631 | V>M | No |
ClinGen gnomAD |
|
CA367414728 rs1385843364 |
632 | R>T | No |
ClinGen gnomAD |
|
rs1583786379 CA367414719 |
633 | V>G | No |
ClinGen Ensembl |
|
rs774564779 CA4246132 |
634 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4246131 rs534900639 |
634 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
TCGA novel | 637 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA367414696 rs1297786909 |
637 | G>V | No |
ClinGen gnomAD |
|
rs773455064 CA4246129 |
639 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs769943053 COSM85037 CA4246128 |
641 | R>C | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs748148561 CA4246127 |
641 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs776700926 CA4246126 |
642 | Q>H | No |
ClinGen ExAC gnomAD |
|
CA367414668 rs1380864406 |
642 | Q>P | No |
ClinGen TOPMed |
|
TCGA novel | 644 | Y>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA157949688 rs61745627 |
646 | R>G | No |
ClinGen TOPMed |
|
TCGA novel | 647 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1446811882 CA367414627 |
649 | L>V | No |
ClinGen gnomAD |
|
rs774073573 CA4246082 |
650 | R>S | No |
ClinGen ExAC gnomAD |
|
rs1002875673 CA157949437 |
651 | Y>C | No |
ClinGen gnomAD |
|
CA367414144 rs1583785810 |
653 | M>K | No |
ClinGen Ensembl |
|
rs149389953 CA4246081 |
655 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA367414104 rs748847640 |
656 | E>G | No |
ClinGen ExAC gnomAD |
|
CA367414110 rs1323959118 |
656 | E>K | No |
ClinGen gnomAD |
|
rs748847640 CA4246080 |
656 | E>V | No |
ClinGen ExAC gnomAD |
|
rs1172750599 CA367414059 |
659 | W>* | No |
ClinGen gnomAD |
|
CA4246077 rs747660390 |
661 | N>S | No |
ClinGen ExAC gnomAD |
|
rs1583785756 CA367414014 |
662 | H>P | No |
ClinGen Ensembl |
|
CA4246075 rs758921507 |
662 | H>Y | No |
ClinGen ExAC gnomAD |
|
rs1232979723 CA367413981 |
665 | G>D | No |
ClinGen TOPMed gnomAD |
|
rs1232979723 CA367413983 |
665 | G>V | No |
ClinGen TOPMed gnomAD |
|
CA4246073 rs779107157 |
666 | S>Y | No |
ClinGen ExAC gnomAD |
|
rs1562827791 CA367413963 |
667 | D>E | No |
ClinGen Ensembl |
|
CA4246070 rs199839026 |
667 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs1583785714 CA367413954 |
668 | K>R | No |
ClinGen Ensembl |
|
CA157949385 rs907176490 |
669 | A>T | No |
ClinGen Ensembl |
|
CA367413942 rs1349806459 |
669 | A>V | No |
ClinGen gnomAD |
|
CA4246069 rs756251983 |
670 | A>T | No |
ClinGen ExAC gnomAD |
|
rs759400828 CA4246066 |
671 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs150202121 CA367413909 |
672 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs762785346 CA4246064 |
673 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4246063 rs762785346 |
673 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 674 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA367413878 rs1287875226 |
676 | E>* | No |
ClinGen TOPMed |
|
CA4246062 rs141505221 |
678 | H>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA4246060 rs145905005 |
679 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA367413838 rs145905005 |
679 | G>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs140643676 CA367413797 |
683 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs140643676 CA4246059 |
683 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs867414113 CA157949320 |
684 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA157949315 rs372082507 |
685 | A>V | No |
ClinGen ESP TOPMed gnomAD |
|
rs1486507372 CA367413758 |
686 | F>L | No |
ClinGen gnomAD |
|
CA367413745 rs1583785590 |
687 | G>A | No |
ClinGen Ensembl |
|
rs779453122 CA4246056 |
688 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1366444364 CA367413718 |
689 | S>R | No |
ClinGen TOPMed |
|
TCGA novel | 692 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA367413697 rs1339633300 |
692 | F>V | No |
ClinGen gnomAD |
|
CA4246055 rs576689841 |
694 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
CA4246054 rs555267455 |
694 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA367413658 rs1372711574 |
695 | S>L | No |
ClinGen gnomAD |
|
rs777914591 CA4246053 |
695 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA367413654 rs1307454172 |
696 | P>A | No |
ClinGen TOPMed |
|
CA367413652 rs1376164203 |
696 | P>L | No |
ClinGen TOPMed |
|
rs767541462 CA4246050 |
697 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4246051 rs767541462 |
697 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4246052 rs374399060 |
697 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
rs754927435 CA4246049 |
698 | T>I | No |
ClinGen ExAC gnomAD |
|
rs370683756 CA4246048 |
699 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1300322799 CA367413628 |
701 | T>I | No |
ClinGen TOPMed |
|
rs566058703 CA4246044 |
702 | L>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1583785472 CA367413622 |
702 | L>Q | No |
ClinGen Ensembl |
|
rs554354933 COSM1090014 CA4246043 |
706 | R>* | Variant assessed as Somatic; 0.0 impact. pancreas endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
rs776303594 CA367413577 |
706 | R>P | No |
ClinGen ExAC gnomAD |
|
rs776303594 CA4246042 |
706 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs1476010542 CA367413567 |
707 | A>V | No |
ClinGen gnomAD |
|
CA4246041 rs768331568 |
708 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4246040 rs746489100 |
708 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA157949256 rs761781014 |
709 | L>F | No |
ClinGen gnomAD |
|
CA367413551 rs1583785449 |
709 | L>R | No |
ClinGen Ensembl |
|
CA4246039 rs774789469 |
711 | P>A | No |
ClinGen ExAC |
|
CA4246012 rs747067198 |
721 | W>R | No |
ClinGen ExAC gnomAD |
|
CA367413379 rs1195429620 |
722 | R>Q | No |
ClinGen gnomAD |
|
CA157949115 rs1015562480 |
723 | G>S | No |
ClinGen TOPMed |
|
CA157949110 rs776426213 |
723 | G>V | No |
ClinGen Ensembl |
|
CA157949101 rs1017395724 |
724 | T>N | No |
ClinGen Ensembl |
|
rs750424358 CA367413349 |
725 | L>F | No |
ClinGen ExAC gnomAD |
|
CA4246008 rs371874192 |
726 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs753674854 CA4246006 |
728 | W>G | No |
ClinGen ExAC gnomAD |
|
CA367413310 rs1349062821 |
729 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1349062821 CA367413311 |
729 | R>G | No |
ClinGen gnomAD |
|
rs763849651 CA4246005 |
729 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA367413308 rs763849651 |
729 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA157949086 rs1035079745 |
730 | C>Y | No |
ClinGen TOPMed |
|
CA4246004 rs367655783 |
731 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA367413291 rs760385721 |
731 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4246003 rs760385721 |
731 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA157949075 rs367655783 |
731 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1583785040 CA367413289 |
732 | R>G | No |
ClinGen Ensembl |
|
rs1002272536 CA157949069 |
732 | R>S | No |
ClinGen TOPMed gnomAD |
|
rs1398260523 CA367413254 |
735 | A>V | No |
ClinGen gnomAD |
|
CA367413251 rs1296111346 |
736 | I>V | No |
ClinGen gnomAD |
|
CA157949064 rs899535059 |
739 | I>V | No |
ClinGen TOPMed gnomAD |
|
rs905006130 CA157949058 |
740 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
COSM292787 rs767004739 CA4246002 |
741 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs773745075 CA4246000 |
741 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs773745075 CA4246001 |
741 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs767004739 CA367413196 |
741 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4245999 rs200693120 |
742 | W>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA4245997 rs529667295 |
744 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs149069497 CA4245998 |
744 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs768794653 CA4245996 |
746 | H>Q | No |
ClinGen ExAC gnomAD |
|
rs1421091899 CA367413147 |
746 | H>Y | No |
ClinGen gnomAD |
|
rs745931480 CA4245992 |
749 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs772234800 CA4245993 |
749 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA367413108 rs1410016931 |
750 | A>T | No |
ClinGen TOPMed |
|
CA4245991 rs779052877 |
750 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 752 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA157949030 rs890157132 |
753 | A>G | No |
ClinGen TOPMed |
|
CA367413076 rs1444089465 |
753 | A>S | No |
ClinGen gnomAD |
|
rs879093489 CA157949028 |
754 | E>A | No |
ClinGen Ensembl |
|
rs749098280 CA4245989 |
755 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4245987 rs201003622 |
757 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs558918192 CA4245988 |
757 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
CA4245986 rs752438917 |
758 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs781147464 CA157949009 |
758 | R>P | No |
ClinGen TOPMed gnomAD |
|
CA157949012 rs781147464 |
758 | R>Q | No |
ClinGen TOPMed gnomAD |
|
CA367413038 rs1159086719 |
759 | F>L | No |
ClinGen gnomAD |
|
CA367413023 rs1222879941 |
762 | A>T | No |
ClinGen TOPMed |
|
rs1455351826 CA367413018 |
762 | A>V | No |
ClinGen TOPMed gnomAD |
|
CA367413015 rs1181665721 |
763 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs201440829 CA4245984 |
764 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA4245983 rs751052723 |
765 | P>L | No |
ClinGen ExAC gnomAD |
|
CA367412994 rs1264792809 |
766 | P>Q | No |
ClinGen TOPMed |
|
CA367412993 rs1264792809 |
766 | P>R | No |
ClinGen TOPMed |
|
rs201481844 CA157949000 |
767 | L>P | No |
ClinGen 1000Genomes TOPMed |
|
CA367412982 rs1285492084 |
768 | Y>C | No |
ClinGen TOPMed gnomAD |
|
rs764573392 CA4245979 |
769 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 769 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs760917700 CA4245978 |
770 | R>C | No |
ClinGen ExAC gnomAD |
|
rs145057132 CA4245977 |
770 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs760917700 CA367412972 |
770 | R>S | No |
ClinGen ExAC gnomAD |
|
CA4245976 rs772172953 |
772 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 773 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
COSM1090013 CA4245975 rs745961199 |
775 | P>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
CA367412931 rs1294886757 |
775 | P>S | No |
ClinGen gnomAD |
|
CA367412893 rs1318844733 |
779 | A>V | No |
ClinGen TOPMed gnomAD |
|
CA367412868 rs1386511556 |
782 | Q>* | No |
ClinGen gnomAD |
|
rs1303072361 CA367412831 |
785 | Q>* | No |
ClinGen TOPMed |
|
CA4245974 rs774503919 |
786 | D>G | No |
ClinGen ExAC gnomAD |
|
rs1583784732 CA367412806 |
787 | T>A | No |
ClinGen Ensembl |
|
rs1583784732 CA367412807 |
787 | T>P | No |
ClinGen Ensembl |
|
rs755972612 CA4245971 |
790 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs755972612 CA4245970 |
790 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA4245969 rs375304069 |
790 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1562827158 CA367412757 |
791 | L>V | No |
ClinGen Ensembl |
|
rs1468506073 CA367412661 |
794 | R>S | No |
ClinGen TOPMed gnomAD |
|
CA367412638 rs371969345 |
796 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs371969345 CA4245951 |
796 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs769604336 CA4245952 |
796 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA367412636 rs1450719753 |
797 | A>T | No |
ClinGen gnomAD |
|
CA4245950 rs2107737 VAR_050212 |
798 | R>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA157948765 rs922704991 |
798 | R>W | No |
ClinGen gnomAD |
|
rs61739437 CA157948760 |
801 | V>E | No |
ClinGen Ensembl |
|
rs61739437 CA367412584 |
801 | V>G | No |
ClinGen Ensembl |
|
rs768320893 CA4245949 |
801 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA367412552 rs1460527341 |
803 | N>S | No |
ClinGen TOPMed |
|
rs1562826853 CA367412514 |
805 | P>L | No |
ClinGen Ensembl |
|
CA4245947 rs779650578 |
806 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA367412512 rs779650578 |
806 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA367412508 rs779650578 |
806 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs368207989 CA4245944 |
808 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
TCGA novel | 810 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA367412393 rs1428144697 |
814 | A>V | No |
ClinGen TOPMed gnomAD |
|
rs753134009 CA4245941 |
818 | A>T | No |
ClinGen ExAC gnomAD |
|
CA4245940 rs767722811 |
819 | M>I | No |
ClinGen ExAC gnomAD |
|
rs1018838361 CA157948750 |
819 | M>T | No |
ClinGen Ensembl |
|
CA4245939 rs147841026 |
820 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA367412327 rs1157193899 |
821 | A>T | No |
ClinGen gnomAD |
|
rs1477482958 CA367412319 |
821 | A>V | No |
ClinGen gnomAD |
|
rs1481924599 CA367412285 |
824 | G>E | No |
ClinGen gnomAD |
|
rs1201850845 CA367412270 |
826 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
CA4245937 rs751867377 |
826 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4245936 rs766703139 |
827 | Q>K | No |
ClinGen ExAC gnomAD |
|
CA4245935 rs199820812 |
828 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1477062526 CA367412255 |
828 | D>N | No |
ClinGen gnomAD |
|
rs1189053185 CA367412239 |
829 | W>* | No |
ClinGen TOPMed |
|
rs958286103 CA157948729 |
832 | R>* | No |
ClinGen TOPMed |
|
rs572778883 CA4245934 |
832 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs769773795 CA367412199 |
833 | R>G | No |
ClinGen ExAC gnomAD |
|
rs761609063 CA4245932 |
833 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs769773795 CA4245933 |
833 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs1313909453 CA367412186 |
834 | A>D | No |
ClinGen gnomAD |
|
rs1350229971 CA367412191 |
834 | A>T | No |
ClinGen gnomAD |
|
rs1408107500 CA573821578 |
835 | W>* | No |
ClinGen gnomAD |
|
rs768480261 CA4245931 |
837 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4245930 rs768480261 |
837 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4245929 rs751614152 |
837 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4245928 rs779744480 |
838 | D>N | No |
ClinGen ExAC gnomAD |
|
CA367412127 rs1471428885 |
839 | Y>* | No |
ClinGen gnomAD |
|
rs906170459 CA157948715 |
840 | L>V | No |
ClinGen TOPMed |
|
rs1250794799 CA367412110 |
841 | S>Y | No |
ClinGen gnomAD |
|
rs144525470 CA4245908 |
846 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA4245907 rs745459946 |
848 | T>A | No |
ClinGen ExAC gnomAD |
|
rs774029585 CA4245906 |
848 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA367411540 rs1450276600 |
849 | A>V | No |
ClinGen TOPMed |
|
rs1215666929 CA367411519 |
851 | S>R | No |
ClinGen TOPMed gnomAD |
|
rs770384569 CA4245905 |
853 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA157946664 rs753768198 |
854 | A>T | No |
ClinGen Ensembl |
|
rs1216383376 CA367411485 |
855 | Q>E | No |
ClinGen TOPMed |
|
CA157946662 rs1016309315 |
856 | R>* | No |
ClinGen TOPMed |
|
CA367411469 rs1387314884 |
856 | R>L | No |
ClinGen gnomAD |
|
rs1326102385 CA367411467 |
857 | L>V | No |
ClinGen gnomAD |
|
rs1366463453 CA367411437 |
860 | L>V | No |
ClinGen gnomAD |
|
rs139568291 CA4245903 |
861 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA367411429 rs139568291 |
861 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA367411422 rs7792760 |
861 | Q>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA367411425 rs7792760 |
861 | Q>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
VAR_044015 CA4245902 rs7792760 |
861 | Q>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs747380693 CA4245901 |
862 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 862 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA4245899 rs142328697 |
864 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs757339463 COSM3950548 CA4245897 |
866 | F>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA4245894 rs148751315 COSM1090009 CA4245895 |
867 | G>R | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
rs752108220 CA157946652 |
868 | A>P | No |
ClinGen gnomAD |
|
rs1363795702 CA367411306 |
872 | S>* | No |
ClinGen gnomAD |
|
CA367411312 rs1228340465 |
872 | S>T | No |
ClinGen gnomAD |
|
rs775289616 CA4245892 |
874 | H>Q | No |
ClinGen ExAC gnomAD |
|
CA4245893 rs760569666 |
874 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1562826388 CA367411275 |
875 | V>I | No |
ClinGen Ensembl |
|
CA4245891 rs767347183 |
876 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA4245890 rs759342282 |
876 | R>H | No |
ClinGen ExAC gnomAD |
|
rs777783175 CA4245877 |
880 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
COSM1450965 CA4245876 rs199620741 |
880 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
TCGA novel | 881 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA367411124 rs1583783239 |
882 | H>R | No |
ClinGen Ensembl |
|
CA367411108 rs1181978067 |
883 | K>R | No |
ClinGen gnomAD |
|
CA367411074 rs1284165978 |
885 | R>Q | No |
ClinGen TOPMed |
|
CA367411079 COSM1450964 rs1486210938 |
885 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
rs867877691 CA157946586 |
887 | R>L | No |
ClinGen Ensembl |
|
rs773744055 CA157946587 |
887 | R>W | No |
ClinGen Ensembl |
|
CA4245874 rs767481349 |
889 | L>F | No |
ClinGen ExAC gnomAD |
|
rs1254946866 CA367411006 |
890 | L>M | No |
ClinGen gnomAD |
|
TCGA novel | 891 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA4245872 rs751310560 |
893 | D>E | No |
ClinGen ExAC gnomAD |
|
CA4245873 rs144298882 |
893 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
CA4245871 rs765950897 |
894 | Q>K | No |
ClinGen ExAC gnomAD |
|
CA367410946 rs1340881232 |
895 | H>Y | No |
ClinGen gnomAD |
|
rs1336041844 CA367410904 |
897 | Y>* | No |
ClinGen gnomAD |
|
CA157946585 rs1038872506 |
899 | L>M | No |
ClinGen TOPMed gnomAD |
|
rs1038872506 CA367410871 |
899 | L>V | No |
ClinGen TOPMed gnomAD |
|
rs1401543677 CA367410863 |
900 | D>H | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 901 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA367410845 rs1159284144 |
901 | P>T | No |
ClinGen gnomAD |
|
rs201502354 CA4245869 |
903 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs762624367 CA367410810 |
903 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs142730861 CA367410745 |
906 | R>G | No |
ClinGen ESP TOPMed gnomAD |
|
CA157946577 rs138226470 |
906 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs138226470 CA4245867 |
906 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs142730861 CA157946581 |
906 | R>W | No |
ClinGen ESP TOPMed gnomAD |
|
CA367410728 rs1186009627 |
907 | V>L | No |
ClinGen gnomAD |
|
CA367410689 rs776197319 |
909 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4245865 rs370778515 |
909 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs776197319 CA4245866 |
909 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA367410681 rs1562826166 |
910 | A>T | No |
ClinGen Ensembl |
|
rs1208746512 CA367410671 |
910 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
COSM1450963 rs376350486 CA4245863 |
911 | V>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
CA367410643 rs1356765158 |
913 | L>F | No |
ClinGen TOPMed gnomAD |
|
rs1356765158 CA367410644 |
913 | L>V | No |
ClinGen TOPMed gnomAD |
|
CA157946568 rs77923458 |
914 | E>D | No |
ClinGen gnomAD |
|
rs1242509039 CA367410624 |
914 | E>G | No |
ClinGen gnomAD |
|
CA4245862 rs771083602 |
914 | E>Q | No |
ClinGen ExAC gnomAD |
|
CA367410613 rs1321152441 |
915 | A>T | No |
ClinGen gnomAD |
|
rs368999334 CA4245861 |
915 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA367410542 rs1351776427 |
916 | V>L | No |
ClinGen gnomAD |
|
CA367410512 rs1405102020 |
917 | T>M | No |
ClinGen gnomAD |
|
rs764970920 CA4245850 |
917 | T>P | No |
ClinGen ExAC gnomAD |
|
CA4245847 rs772491166 |
921 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA367410438 rs1387776613 |
922 | T>I | No |
ClinGen gnomAD |
|
CA367410434 rs1353746152 |
923 | S>G | No |
ClinGen TOPMed |
|
CA367410414 rs1185486091 |
924 | G>* | No |
ClinGen gnomAD |
|
rs1478075228 CA367410407 |
924 | G>V | No |
ClinGen gnomAD |
|
CA157946250 rs977371992 |
929 | V>M | No |
ClinGen Ensembl |
|
rs1181024277 CA367410277 |
932 | H>Q | No |
ClinGen TOPMed gnomAD |
|
rs1482164079 CA367410260 |
933 | A>G | No |
ClinGen gnomAD |
|
CA367410257 rs774701688 |
934 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1207172570 CA367410251 |
934 | R>H | No |
ClinGen gnomAD |
|
CA4245845 rs774701688 |
934 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1340040142 CA367410220 |
936 | Q>L | No |
ClinGen TOPMed gnomAD |
|
CA4245844 rs771364309 |
937 | D>N | No |
ClinGen ExAC gnomAD |
|
CA367410176 rs1369859906 |
938 | D>E | No |
ClinGen TOPMed gnomAD |
|
CA367410151 rs749646679 |
940 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA4245843 rs749646679 |
940 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs910515874 CA157946248 |
945 | R>S | No |
ClinGen TOPMed gnomAD |
|
CA4245842 rs778023178 |
946 | S>F | No |
ClinGen ExAC |
|
CA367410012 rs1370419817 |
948 | P>S | No |
ClinGen gnomAD |
|
rs748229958 CA4245840 |
950 | L>* | No |
ClinGen ExAC TOPMed |
|
rs748229958 CA367409981 |
950 | L>S | No |
ClinGen ExAC TOPMed |
|
CA367409938 rs1246359058 |
952 | N>K | No |
ClinGen gnomAD |
|
rs1177427572 CA367409943 |
952 | N>S | No |
ClinGen gnomAD |
|
rs1562825544 CA367409931 |
953 | R>H | No |
ClinGen Ensembl |
|
CA367409920 rs1414502760 |
954 | V>A | No |
ClinGen TOPMed gnomAD |
|
CA367409918 rs1414502760 |
954 | V>G | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 956 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1562825522 CA367409862 |
960 | V>M | No |
ClinGen Ensembl |
|
rs1407433110 CA367409831 |
963 | A>T | No |
ClinGen TOPMed |
|
rs1252259218 CA367409803 |
964 | H>Q | No |
ClinGen gnomAD |
|
CA367409812 rs1479928529 |
964 | H>R | No |
ClinGen gnomAD |
|
CA367409790 rs1455063471 |
965 | C>Y | No |
ClinGen TOPMed |
|
CA157946246 rs952104150 |
966 | Q>R | No |
ClinGen TOPMed gnomAD |
|
rs1250935031 CA367409753 |
967 | G>E | No |
ClinGen TOPMed gnomAD |
|
CA4245837 rs754892218 |
967 | G>R | No |
ClinGen ExAC gnomAD |
|
CA367409686 rs1230522419 |
969 | G>S | No |
ClinGen TOPMed gnomAD |
|
CA4245827 rs774987012 |
970 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA367409663 rs1302781130 |
970 | R>L | No |
ClinGen gnomAD |
|
rs1451229061 CA367409652 |
971 | T>S | No |
ClinGen gnomAD |
|
rs1388762320 CA367409604 |
975 | R>P | No |
ClinGen gnomAD |
|
CA367409471 rs1425346013 |
984 | H>L | No |
ClinGen TOPMed gnomAD |
|
CA367409473 rs1425346013 |
984 | H>R | No |
ClinGen TOPMed gnomAD |
|
CA4245825 rs763316184 |
984 | H>Y | No |
ClinGen ExAC gnomAD |
|
CA367409455 rs1344279544 |
986 | G>E | No |
ClinGen TOPMed |
|
rs865914185 CA367409458 |
986 | G>R | No |
ClinGen gnomAD |
|
rs865914185 CA157946240 |
986 | G>W | No |
ClinGen gnomAD |
|
CA4245823 rs770033987 |
988 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA367409423 rs1207021393 |
989 | R>G | No |
ClinGen gnomAD |
|
CA367409400 rs1485703100 |
990 | L>F | No |
ClinGen gnomAD |
|
CA367409379 rs1487400233 |
991 | I>M | No |
ClinGen TOPMed |
|
CA4245821 rs776693838 |
994 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA367409281 rs1236319681 |
997 | P>R | No |
ClinGen TOPMed gnomAD |
|
CA4245819 rs577889210 |
1000 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs768849060 CA367409230 |
1000 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs768849060 CA4245820 |
1000 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs112599733 CA157946239 |
1001 | E>G | No |
ClinGen Ensembl |
|
rs758345029 CA4245817 |
1002 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs200958914 CA367409184 |
1003 | D>N | No |
ClinGen ESP ExAC TOPMed |
|
CA4245816 rs200958914 |
1003 | D>Y | No |
ClinGen ESP ExAC TOPMed |
|
TCGA novel | 1004 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs757098246 CA4245814 |
1008 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs753570242 CA4245813 |
1009 | G>D | No |
ClinGen ExAC gnomAD |
|
CA367409082 rs1293753063 |
1009 | G>S | No |
ClinGen TOPMed gnomAD |
|
rs1388269566 CA367409045 |
1011 | F>Y | No |
ClinGen TOPMed |
|
CA157946238 rs888765654 |
1012 | T>S | No |
ClinGen gnomAD |
|
CA367409019 rs1330404740 |
1013 | L>V | No |
ClinGen TOPMed |
|
rs766872839 CA4245809 |
1017 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA367408911 rs1428001335 |
1018 | R>C | No |
ClinGen gnomAD |
|
rs1351598742 CA367408902 |
1018 | R>L | No |
ClinGen TOPMed |
No associated diseases with B0I1T2
Functions
11 GO annotations of cellular component
Name | Definition |
---|---|
actin cytoskeleton | The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes. |
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. |
filopodium | Thin, stiff, actin-based protrusion extended by the leading edge of a motile cell such as a crawling fibroblast or amoeba, or an axonal or dendritic growth cone, or a dendritic shaft. |
lamellipodium | A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments. |
leading edge membrane | The portion of the plasma membrane surrounding the leading edge of a motile cell. |
membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
microvillus | Thin cylindrical membrane-covered projections on the surface of an animal cell containing a core bundle of actin filaments. Present in especially large numbers on the absorptive surface of intestinal cells. |
myosin complex | A protein complex, formed of one or more myosin heavy chains plus associated light chains and other proteins, that functions as a molecular motor; uses the energy of ATP hydrolysis to move actin filaments or to move vesicles or other cargo on fixed actin filaments; has magnesium-ATPase activity and binds actin. Myosin classes are distinguished based on sequence features of the motor, or head, domain, but also have distinct tail regions that are believed to bind specific cargoes. |
nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
phagocytic cup | An invagination of the cell membrane formed by an actin dependent process during phagocytosis. Following internalization it is converted into a phagosome. |
plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
7 GO annotations of molecular function
Name | Definition |
---|---|
actin filament binding | Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits. |
ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
calmodulin binding | Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states. |
microfilament motor activity | A motor activity that generates movement along a microfilament, driven by ATP hydrolysis. |
phosphatidylinositol-3,4,5-trisphosphate binding | Binding to phosphatidylinositol-3,4,5-trisphosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 3', 4' and 5' positions. |
phosphatidylinositol-3,4-bisphosphate binding | Binding to phosphatidylinositol-3,4-bisphosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 3' and 4' positions. |
phosphatidylinositol-4,5-bisphosphate binding | Binding to phosphatidylinositol-4,5-bisphosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 4' and 5' positions. |
9 GO annotations of biological process
Name | Definition |
---|---|
actin filament organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments. Includes processes that control the spatial distribution of actin filaments, such as organizing filaments into meshworks, bundles, or other structures, as by cross-linking. |
cell gliding | Cell motility that results in the smooth movement of a cell along a solid surface. |
cell-substrate adhesion | The attachment of a cell to the underlying substrate via adhesion molecules. |
exocytosis | A process of secretion by a cell that results in the release of intracellular molecules (e.g. hormones, matrix proteins) contained within a membrane-bounded vesicle. Exocytosis can occur either by full fusion, when the vesicle collapses into the plasma membrane, or by a kiss-and-run mechanism that involves the formation of a transient contact, a pore, between a granule (for exemple of chromaffin cells) and the plasma membrane. The latter process most of the time leads to only partial secretion of the granule content. Exocytosis begins with steps that prepare vesicles for fusion with the membrane (tethering and docking) and ends when molecules are secreted from the cell. |
Fc-gamma receptor signaling pathway involved in phagocytosis | An Fc-gamma receptor signaling pathway that contributes to the endocytic engulfment of external particulate material by phagocytes. |
T cell meandering migration | The random-like motility observed for T cells in lymph nodes which enhances surveillance of antigens presented by major histocompatibility complex (MHC) molecules on antigen presenting cells (APCs). |
T cell mediated immunity | Any process involved in the carrying out of an immune response by a T cell. |
T cell migration | The movement of a T cell within or between different tissues and organs of the body. |
vesicle transport along actin filament | Movement of a vesicle along an actin filament, mediated by motor proteins. |
17 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
Q27991 | MYH10 | Myosin-10 | Bos taurus (Bovine) | SS |
Q02440 | MYO5A | Unconventional myosin-Va | Gallus gallus (Chicken) | SS |
Q5U651 | RASIP1 | Ras-interacting protein 1 | Homo sapiens (Human) | PR |
P35580 | MYH10 | Myosin-10 | Homo sapiens (Human) | SS |
Q12965 | MYO1E | Unconventional myosin-Ie | Homo sapiens (Human) | PR |
O00160 | MYO1F | Unconventional myosin-If | Homo sapiens (Human) | PR |
Q9UM54 | MYO6 | Unconventional myosin-VI | Homo sapiens (Human) | EV |
Q9Y4I1 | MYO5A | Unconventional myosin-Va | Homo sapiens (Human) | SS |
Q9NQX4 | MYO5C | Unconventional myosin-Vc | Homo sapiens (Human) | SS |
Q9ULV0 | MYO5B | Unconventional myosin-Vb | Homo sapiens (Human) | SS |
Q3U0S6 | Rasip1 | Ras-interacting protein 1 | Mus musculus (Mouse) | PR |
P21271 | Myo5b | Unconventional myosin-Vb | Mus musculus (Mouse) | SS |
Q61879 | Myh10 | Myosin-10 | Mus musculus (Mouse) | SS |
Q99104 | Myo5a | Unconventional myosin-Va | Mus musculus (Mouse) | EV |
P70569 | Myo5b | Unconventional myosin-Vb | Rattus norvegicus (Rat) | SS |
Q9JLT0 | Myh10 | Myosin-10 | Rattus norvegicus (Rat) | SS |
Q9M2K0 | XI-J | Myosin-16 | Arabidopsis thaliana (Mouse-ear cress) | PR |
10 | 20 | 30 | 40 | 50 | 60 |
MEDEEGPEYG | KPDFVLLDQV | TMEDFMRNLQ | LRFEKGRIYT | YIGEVLVSVN | PYQELPLYGP |
70 | 80 | 90 | 100 | 110 | 120 |
EAIARYQGRE | LYERPPHLYA | VANAAYKAMK | HRSRDTCIVI | SGESGAGKTE | ASKHIMQYIA |
130 | 140 | 150 | 160 | 170 | 180 |
AVTNPSQRAE | VERVKDVLLK | STCVLEAFGN | ARTNRNHNSS | RFGKYMDINF | DFKGDPIGGH |
190 | 200 | 210 | 220 | 230 | 240 |
IHSYLLEKSR | VLKQHVGERN | FHAFYQLLRG | SEDKQLHELH | LERNPAVYNF | THQGAGLNMT |
250 | 260 | 270 | 280 | 290 | 300 |
VHSALDSDEQ | SHQAVTEAMR | VIGFSPEEVE | SVHRILAAIL | HLGNIEFVET | EEGGLQKEGL |
310 | 320 | 330 | 340 | 350 | 360 |
AVAEEALVDH | VAELTATPRD | LVLRSLLART | VASGGRELIE | KGHTAAEASY | ARDACAKAVY |
370 | 380 | 390 | 400 | 410 | 420 |
QRLFEWVVNR | INSVMEPRGR | DPRRDGKDTV | IGVLDIYGFE | VFPVNSFEQF | CINYCNEKLQ |
430 | 440 | 450 | 460 | 470 | 480 |
QLFIQLILKQ | EQEEYEREGI | TWQSVEYFNN | ATIVDLVERP | HRGILAVLDE | ACSSAGTITD |
490 | 500 | 510 | 520 | 530 | 540 |
RIFLQTLDMH | HRHHLHYTSR | QLCPTDKTME | FGRDFRIKHY | AGDVTYSVEG | FIDKNRDFLF |
550 | 560 | 570 | 580 | 590 | 600 |
QDFKRLLYNS | TDPTLRAMWP | DGQQDITEVT | KRPLTAGTLF | KNSMVALVEN | LASKEPFYVR |
610 | 620 | 630 | 640 | 650 | 660 |
CIKPNEDKVA | GKLDENHCRH | QVAYLGLLEN | VRVRRAGFAS | RQPYSRFLLR | YKMTCEYTWP |
670 | 680 | 690 | 700 | 710 | 720 |
NHLLGSDKAA | VSALLEQHGL | QGDVAFGHSK | LFIRSPRTLV | TLEQSRARLI | PIIVLLLQKA |
730 | 740 | 750 | 760 | 770 | 780 |
WRGTLARWRC | RRLRAIYTIM | RWFRRHKVRA | HLAELQRRFQ | AARQPPLYGR | DLVWPLPPAV |
790 | 800 | 810 | 820 | 830 | 840 |
LQPFQDTCHA | LFCRWRARQL | VKNIPPSDMP | QIKAKVAAMG | ALQGLRQDWG | CRRAWARDYL |
850 | 860 | 870 | 880 | 890 | 900 |
SSATDNPTAS | SLFAQRLKTL | QDKDGFGAVL | FSSHVRKVNR | FHKIRNRALL | LTDQHLYKLD |
910 | 920 | 930 | 940 | 950 | 960 |
PDRQYRVMRA | VPLEAVTGLS | VTSGGDQLVV | LHARGQDDLV | VCLHRSRPPL | DNRVGELVGV |
970 | 980 | 990 | 1000 | 1010 | |
LAAHCQGEGR | TLEVRVSDCI | PLSHRGVRRL | ISVEPRPEQP | EPDFRCARGS | FTLLWPSR |