Q86XH1
PR
Gene name |
IQCA1 (DRC11) |
Protein name |
Dynein regulatory complex protein 11 |
Names |
IQ and AAA domain-containing protein 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:79781 |
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
2 structures for Q86XH1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 8J07 | EM | 410 A | 11 | 1-822 | PDB |
| AF-Q86XH1-F1 | Predicted | AlphaFoldDB |
730 variants for Q86XH1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1039691225 CA68472935 |
2 | S>L | No |
ClinGen TOPMed |
|
|
CA351185132 rs1215259234 |
4 | A>V | No |
ClinGen gnomAD |
|
|
CA351185033 rs1161282184 |
5 | M>T | No |
ClinGen TOPMed |
|
|
CA351185024 rs1314142663 |
6 | Y>C | No |
ClinGen gnomAD |
|
|
rs977709256 CA68471725 |
7 | N>D | No |
ClinGen Ensembl |
|
|
VAR_060983 CA68471724 rs35114730 |
8 | K>M | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA2186665 rs759413513 |
9 | M>L | No |
ClinGen ExAC TOPMed |
|
|
rs776559632 CA2186664 |
9 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs201568149 CA2186663 |
10 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA351184994 rs1156832050 |
10 | W>* | No |
ClinGen gnomAD |
|
|
rs1156832050 CA351184993 |
10 | W>C | No |
ClinGen gnomAD |
|
|
rs1420487487 CA351184997 |
10 | W>G | No |
ClinGen gnomAD |
|
|
rs1420487487 CA351184998 |
10 | W>R | No |
ClinGen gnomAD |
|
|
rs747307831 CA2186662 |
12 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA351184969 rs1368979992 |
14 | Q>E | No |
ClinGen gnomAD |
|
|
CA68471723 rs867906266 |
16 | A>V | No |
ClinGen Ensembl |
|
|
rs202091336 CA2186661 |
17 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA2186659 rs748164241 |
17 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs202091336 CA2186660 |
17 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1487717348 CA351184943 |
18 | G>D | No |
ClinGen gnomAD |
|
|
CA2186657 rs755544450 |
18 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 19 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749745725 CA2186656 |
19 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs780515057 CA2186655 |
19 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1356521389 CA351184929 |
21 | L>I | No |
ClinGen gnomAD |
|
|
rs200469019 CA2186653 |
22 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs763793537 CA2186652 |
23 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2186651 rs757995548 |
24 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA2186650 rs752188549 |
25 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 25 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs866188816 CA68471722 |
26 | Q>P | No |
ClinGen TOPMed |
|
|
CA351184886 rs1461947274 |
27 | K>R | No |
ClinGen TOPMed |
|
|
CA351184879 COSM1018311 rs1203987392 COSM1018313 |
28 | M>T | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs759609553 CA2186648 |
28 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA2186647 rs776412510 |
30 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 33 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2186646 rs189058116 |
35 | Q>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs773494914 CA2186644 |
35 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs773494914 COSM1406538 COSM1406539 CA2186645 |
35 | Q>R | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA351184815 rs1194040007 |
37 | F>S | No |
ClinGen gnomAD |
|
|
CA351184811 rs1428756407 |
38 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA351184800 rs1477408170 |
39 | F>C | No |
ClinGen gnomAD |
|
|
rs373061451 CA351184790 |
40 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1240001130 CA351184797 |
40 | Q>K | No |
ClinGen gnomAD |
|
|
rs1408686099 CA351184769 |
44 | T>A | No |
ClinGen TOPMed |
|
|
rs1265999473 CA351184763 |
45 | F>L | No |
ClinGen gnomAD |
|
|
CA351184752 rs1333247091 |
46 | Y>C | No |
ClinGen gnomAD |
|
|
rs369386783 CA2186641 |
47 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 47 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768699201 CA2186640 |
48 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1470001544 CA351184728 |
49 | Y>* | No |
ClinGen TOPMed |
|
|
CA2186638 rs780386183 |
51 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA351184717 rs1574936755 |
51 | Q>R | No |
ClinGen Ensembl |
|
|
rs1331928824 CA351184693 |
54 | R>S | No |
ClinGen gnomAD |
|
|
rs1438815683 CA351184680 |
56 | L>P | No |
ClinGen gnomAD |
|
|
CA2186637 rs746162080 |
56 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351184678 rs1171383320 |
57 | E>Q | No |
ClinGen gnomAD |
|
|
rs1409126930 CA351184667 |
58 | N>S | No |
ClinGen gnomAD |
|
|
rs149361092 CA2186632 |
61 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2186633 rs149361092 |
61 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753833779 CA351184629 |
63 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754418101 CA2186631 |
63 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs200461783 CA2186629 |
64 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2186628 rs200461783 |
64 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1240536106 CA351184611 |
66 | P>L | No |
ClinGen gnomAD |
|
|
CA351184608 rs1437782516 |
67 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
COSM1482921 rs901228069 COSM1482920 CA68471717 |
69 | R>* | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA2186626 rs372732894 |
69 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2186624 rs372732894 |
69 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2186625 rs372732894 |
69 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1553628579 CA351184588 |
70 | I>R | No |
ClinGen Ensembl |
|
|
CA68471716 rs1004289161 |
73 | R>T | No |
ClinGen TOPMed |
|
|
rs1379264358 CA351184555 |
75 | V>G | No |
ClinGen gnomAD |
|
|
rs1232180404 CA351184560 |
75 | V>I | No |
ClinGen gnomAD |
|
|
rs1331934684 CA351184547 |
77 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs888434481 CA68471715 |
78 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA351184523 rs1559449728 |
80 | M>I | No |
ClinGen Ensembl |
|
|
CA2186618 rs746383347 |
82 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM281956 COSM281955 rs771403726 CA2186616 |
82 | R>H | Variant assessed as Somatic; 4.65e-05 impact. oesophagus large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA2186617 rs771403726 |
82 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351184483 rs1440975449 |
87 | K>T | No |
ClinGen gnomAD |
|
|
CA2186613 rs754527222 |
89 | E>K | Variant assessed as Somatic; 0.000186 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs754527222 CA351184471 |
89 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1341766654 CA351184458 |
90 | M>I | No |
ClinGen TOPMed |
|
|
rs753217271 CA351184448 |
92 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA2186612 rs753217271 |
92 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1279846981 CA351184427 |
95 | L>H | No |
ClinGen gnomAD |
|
|
rs756063010 CA2186610 |
95 | L>V | No |
ClinGen ExAC gnomAD |
|
|
COSM3695360 rs201684914 COSM210520 CA2186609 |
96 | T>M | Variant assessed as Somatic; 4.657e-05 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2186606 rs751803280 |
97 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA351184418 rs761554968 |
97 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2186607 rs761554968 |
97 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2186605 rs764167092 |
98 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA351184411 rs1371021256 |
98 | F>V | No |
ClinGen gnomAD |
|
|
CA2186604 rs377139369 |
99 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1374675724 CA351184406 |
99 | H>Y | No |
ClinGen gnomAD |
|
|
COSM1018307 rs368292075 COSM1018305 CA2186602 |
102 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1157657884 CA351184371 |
103 | D>V | No |
ClinGen gnomAD |
|
|
CA351184360 rs1244562502 |
105 | L>M | No |
ClinGen TOPMed |
|
|
CA2186601 rs760013655 |
107 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs771456669 CA2186599 |
111 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA2186598 rs747316965 |
111 | A>V | No |
ClinGen ExAC gnomAD |
|
| rs199784659 | 112 | P>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351184313 rs1261543312 |
112 | P>L | No |
ClinGen gnomAD |
|
|
rs1489355975 CA351184316 |
112 | P>S | No |
ClinGen gnomAD |
|
| rs746936079 | 113 | Q>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1358429342 CA351184298 |
113 | Q>R | No |
ClinGen gnomAD |
|
|
CA351184274 rs898742005 |
116 | D>G | No |
ClinGen TOPMed |
|
|
CA68471325 rs898742005 |
116 | D>V | No |
ClinGen TOPMed |
|
|
rs777481118 CA2186566 |
117 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA2186565 rs758184774 |
119 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1426893633 CA351184251 |
120 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs752896265 CA2186564 |
120 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1194322359 CA351184244 |
121 | K>R | No |
ClinGen gnomAD |
|
|
rs755110229 CA2186562 |
123 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 124 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2186560 rs371274124 |
126 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2186561 rs371274124 |
126 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1250514722 CA351184190 |
128 | L>F | No |
ClinGen gnomAD |
|
|
rs1224980296 CA351184188 |
129 | E>Q | No |
ClinGen gnomAD |
|
|
CA351184177 rs1313527243 |
130 | V>A | No |
ClinGen gnomAD |
|
|
CA2186559 rs761311136 |
131 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 133 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351184153 rs1310718926 |
134 | R>K | No |
ClinGen TOPMed |
|
| TCGA novel | 135 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 136 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1458801610 CA351184134 |
136 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 137 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 137 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2186557 rs773736427 |
140 | Q>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs558106245 CA2186555 |
140 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs769370044 CA2186554 |
141 | I>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769370044 CA2186553 |
141 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1397839730 CA351184095 |
143 | A>T | No |
ClinGen gnomAD |
|
|
COSM1579150 CA2186552 rs755009497 COSM1579151 |
143 | A>V | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs770406734 CA2186550 |
145 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA2186548 rs116619489 |
146 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs555444342 CA68471322 |
146 | G>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1180625429 CA351184070 |
147 | I>V | No |
ClinGen gnomAD |
|
|
CA351184060 rs1559447659 |
148 | D>G | No |
ClinGen Ensembl |
|
|
CA351184064 rs1439283287 |
148 | D>H | No |
ClinGen TOPMed |
|
| TCGA novel | 148 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs564753225 CA2186547 |
149 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761841718 CA68471320 |
151 | D>H | No |
ClinGen Ensembl |
|
| TCGA novel | 151 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 152 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1280561566 CA351184034 |
152 | M>T | No |
ClinGen gnomAD |
|
|
CA351184036 rs1484151495 |
152 | M>V | No |
ClinGen gnomAD |
|
|
rs1294222599 CA351183797 |
153 | K>T | No |
ClinGen gnomAD |
|
|
CA2186524 rs760840211 |
155 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760840211 CA2186525 |
155 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1392580063 CA351183755 |
156 | V>I | No |
ClinGen Ensembl |
|
|
rs780373084 CA2186523 |
157 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 157 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1382818376 COSM3798785 CA351183724 COSM3798784 |
158 | S>G | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA2186522 rs756275092 |
158 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1156921039 CA351183676 |
159 | I>M | No |
ClinGen gnomAD |
|
|
COSM1018299 CA2186520 rs781128076 COSM1018301 |
162 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA351183489 rs1264837215 |
167 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs751990493 CA2186517 |
168 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1259011710 CA351183388 |
171 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1211119226 CA351183386 |
172 | E>K | No |
ClinGen gnomAD |
|
|
CA351183370 rs1187329346 |
173 | R>M | No |
ClinGen TOPMed |
|
|
CA351183365 rs1337515013 |
174 | A>T | No |
ClinGen gnomAD |
|
|
rs763267331 CA2186515 |
175 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2186516 rs764484461 |
175 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA2186514 rs753513153 |
176 | Q>E | No |
ClinGen ExAC |
|
|
CA2186512 COSM1018296 COSM1018298 rs760111545 |
178 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA2186511 rs772833296 |
178 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2186509 rs761847932 |
181 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1395114956 CA351183262 |
183 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA351183233 rs1043019454 CA68470643 |
184 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA351183248 rs1320752603 |
184 | M>V | No |
ClinGen gnomAD |
|
|
rs749031922 CA2186506 |
186 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs746065503 CA2186503 |
191 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA68470641 rs775598254 |
191 | E>G | No |
ClinGen Ensembl |
|
|
rs1200357141 CA351183124 |
192 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA351183113 rs1254147104 |
193 | R>G | No |
ClinGen gnomAD |
|
|
CA351183086 rs1213680076 |
194 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA351182986 rs1275507822 |
196 | Q>K | No |
ClinGen gnomAD |
|
|
rs772048362 CA68470639 |
197 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA351182966 rs1338964409 |
198 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA2186500 rs549553921 |
199 | M>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2186501 rs549553921 |
199 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA68470638 rs1052253419 |
200 | L>H | No |
ClinGen TOPMed |
|
|
CA2186499 rs529512231 |
203 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1371878537 CA351182919 |
206 | D>H | No |
ClinGen gnomAD |
|
|
rs758779458 CA2186498 |
207 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1559443269 CA351182910 |
207 | T>I | No |
ClinGen Ensembl |
|
|
CA351182895 rs1356215658 |
209 | A>V | No |
ClinGen gnomAD |
|
|
CA2186497 rs752995583 |
212 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2186495 rs537756362 |
213 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1018292 CA2186494 COSM1018290 rs750010465 |
213 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs750010465 CA351182872 |
213 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351182867 rs1574923470 |
214 | I>T | No |
ClinGen Ensembl |
|
|
rs1191244517 CA351182869 |
214 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2186493 rs767082550 |
215 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779371910 CA2186479 |
217 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351182829 rs1223098519 |
218 | W>* | No |
ClinGen gnomAD |
|
|
CA2186478 rs755255208 |
218 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374211238 CA2186476 |
219 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374211238 CA2186477 |
219 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2186475 rs756793780 |
219 | R>Q | Variant assessed as Somatic; 4.719e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2186474 rs760883965 |
220 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2186473 COSM3695359 rs563978762 COSM3695358 |
220 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs563978762 CA351182819 |
220 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2186471 rs775538727 |
222 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs763033823 CA2186472 |
222 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA2186470 COSM86921 rs370868790 COSM3391588 |
224 | R>C | ovary Variant assessed as Somatic; 0.0 impact. pancreas [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs186280272 CA2186469 |
224 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2186468 rs186280272 |
224 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA351182782 rs1257040807 |
226 | E>A | No |
ClinGen gnomAD |
|
|
CA351182785 rs1266748472 |
226 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs747231805 CA2186466 |
228 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2186465 rs541020677 |
232 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 233 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2186463 rs748681731 |
237 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs1275043960 CA351182695 |
238 | L>P | No |
ClinGen gnomAD |
|
|
CA351182691 rs1309388078 |
239 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA2186462 rs779236370 |
239 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1333951152 CA351182687 |
240 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs769109073 CA2186443 |
242 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA2186442 rs373104076 |
244 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2186440 rs770252962 |
246 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA2186439 rs573773765 |
247 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM4128228 rs777520775 COSM4128229 CA2186438 |
249 | V>I | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 250 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351182572 rs1170779402 |
250 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 251 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 251 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM354294 CA351182548 COSM354293 rs1489106788 |
252 | T>A | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1447879668 CA351182540 |
252 | T>I | No |
ClinGen gnomAD |
|
|
rs1453663214 CA351182519 |
254 | I>T | No |
ClinGen gnomAD |
|
|
CA351182511 rs1190619000 |
255 | Q>E | No |
ClinGen TOPMed |
|
|
CA68468234 rs35432941 |
255 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs754932268 CA2186434 |
257 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1480860602 CA351182486 |
257 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA351182447 rs1202529855 |
259 | V>A | No |
ClinGen gnomAD |
|
|
CA2186433 rs753773616 |
260 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA2186431 rs768931666 |
261 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2186432 rs768931666 |
261 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200287685 COSM268268 COSM268269 CA2186430 |
261 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA351182414 rs1559431794 |
262 | L>P | No |
ClinGen Ensembl |
|
|
COSM1018287 rs147583253 COSM1018289 CA2186427 |
263 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA2186428 rs35814876 |
263 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2186426 rs367828773 |
264 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2186425 rs367828773 |
264 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA351182385 rs1297993553 |
265 | E>G | No |
ClinGen gnomAD |
|
|
rs1364951860 CA351182377 |
266 | V>L | No |
ClinGen TOPMed |
|
|
CA351182349 rs1427990505 |
268 | I>L | No |
ClinGen gnomAD |
|
|
rs1274716352 CA351182341 |
268 | I>T | No |
ClinGen gnomAD |
|
|
CA351182302 rs1174324748 |
271 | E>K | No |
ClinGen gnomAD |
|
|
CA351182265 rs1375830455 |
273 | D>N | No |
ClinGen gnomAD |
|
|
CA68468233 rs920648713 |
274 | Y>C | No |
ClinGen TOPMed |
|
|
CA2186422 rs746178269 |
274 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs773006906 CA2186421 |
275 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA351182226 rs1179757937 |
276 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA351182211 rs1364050704 |
277 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1486418002 CA351182188 |
279 | V>I | No |
ClinGen gnomAD |
|
|
rs1257863374 CA351182149 |
282 | K>Q | No |
ClinGen gnomAD |
|
|
rs771920734 CA2186420 |
282 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2186418 rs747827884 |
283 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778340407 CA2186417 |
284 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 286 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1288053623 CA351182111 |
286 | K>R | No |
ClinGen gnomAD |
|
|
CA68468230 rs973470301 |
287 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1313758662 CA351182096 |
288 | I>M | No |
ClinGen gnomAD |
|
|
CA2186415 rs749201351 |
288 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs779906059 CA2186414 |
289 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs755904682 CA2186413 |
290 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2186410 rs757468336 |
291 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM442545 COSM442544 CA2186411 rs201265396 |
291 | V>M | central_nervous_system breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA2186408 rs764112422 |
292 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA68468229 rs372874538 |
292 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2186409 rs372874538 |
292 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs115904922 CA68468228 |
293 | I>V | No |
ClinGen 1000Genomes TOPMed |
|
|
CA2186407 rs187458150 |
295 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2186406 rs776155995 |
296 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1424316913 CA351182050 |
296 | N>S | No |
ClinGen TOPMed |
|
|
CA351182040 rs1263135486 |
298 | Q>E | No |
ClinGen gnomAD |
|
|
rs1205218614 CA351182037 |
298 | Q>P | No |
ClinGen gnomAD |
|
| TCGA novel | 299 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1021644600 CA68468227 |
299 | D>V | No |
ClinGen TOPMed |
|
|
CA2186405 rs765774590 |
300 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA2186404 rs368604352 |
300 | Q>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA351182022 rs1371314772 |
300 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
COSM210519 CA2186401 rs747782358 |
302 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA2186402 rs149890791 |
302 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1007162144 CA68468226 |
304 | W>* | No |
ClinGen TOPMed |
|
|
rs1007162144 CA68468225 |
304 | W>S | No |
ClinGen TOPMed |
|
|
rs1338932812 CA351181991 |
305 | F>Y | No |
ClinGen gnomAD |
|
|
rs1320308546 CA351181985 |
306 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA2186398 rs184591533 |
307 | E>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2186397 rs184591533 |
307 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA68468224 rs999899239 |
309 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs781059397 CA2186372 |
312 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs745836735 CA2186373 |
312 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs183422881 CA2186370 |
313 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs758710909 CA2186368 |
315 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA67793555 rs770312857 |
316 | P>A | No |
ClinGen gnomAD |
|
|
rs866964223 CA67793550 |
319 | P>L | No |
ClinGen gnomAD |
|
|
CA351178193 rs1200616611 |
319 | P>S | No |
ClinGen gnomAD |
|
|
CA351178181 rs577557920 |
321 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs577557920 CA2186366 |
321 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 324 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA67793529 rs890944536 |
324 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs866986872 CA67793513 |
326 | S>* | No |
ClinGen Ensembl |
|
|
CA67793482 rs867873254 |
327 | A>D | No |
ClinGen TOPMed |
|
|
CA2186365 rs191563773 |
327 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs867873254 CA351178142 |
327 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs376201511 CA2186364 |
328 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766855489 CA351178132 |
329 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766855489 CA2186363 |
329 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 331 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761075862 CA351178109 |
332 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867300180 CA67793439 |
333 | K>N | No |
ClinGen Ensembl |
|
|
CA2186359 rs534391356 |
335 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA351178091 rs1172559974 |
335 | I>T | No |
ClinGen gnomAD |
|
|
CA2186361 rs750868561 |
335 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA67780804 rs571467947 |
339 | I>F | No |
ClinGen 1000Genomes |
|
|
rs1331626468 CA351177675 |
341 | D>N | No |
ClinGen gnomAD |
|
|
CA351177667 rs1344302915 |
341 | D>V | No |
ClinGen TOPMed |
|
|
rs1413201928 CA351177652 |
342 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA351177651 rs373621111 |
343 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA67780777 rs908305014 |
343 | I>M | No |
ClinGen TOPMed |
|
|
CA67780796 rs962666682 |
343 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs373621111 CA2186352 |
343 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA351177603 rs1410002380 |
347 | E>G | No |
ClinGen gnomAD |
|
|
rs1157497378 CA351177586 |
349 | E>K | No |
ClinGen gnomAD |
|
|
CA351177570 rs1471329796 |
350 | E>K | No |
ClinGen gnomAD |
|
|
CA351177559 rs1483718789 |
351 | K>E | No |
ClinGen gnomAD |
|
|
rs1236910518 CA351177550 |
351 | K>N | No |
ClinGen gnomAD |
|
|
CA67780750 rs867710925 |
352 | N>K | No |
ClinGen gnomAD |
|
| TCGA novel | 352 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1004255283 CA67780729 |
353 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1004255283 CA351177538 |
353 | K>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 354 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs887171456 CA67780723 |
354 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA351177506 rs1294932339 |
355 | K>N | No |
ClinGen gnomAD |
|
|
CA351177509 rs1326878874 |
355 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs772424663 CA67780713 |
356 | K>R | No |
ClinGen Ensembl |
|
|
rs3754644 VAR_060984 CA2186350 |
362 | Q>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 363 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1441908343 CA351177410 |
363 | P>R | No |
ClinGen TOPMed |
|
| rs767039128 | 369 | Q>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1413419273 CA351177292 |
371 | K>N | No |
ClinGen gnomAD |
|
|
CA2186347 rs748400263 |
371 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA67780686 rs1045282477 |
371 | K>T | No |
ClinGen TOPMed |
|
|
CA2186346 rs779214294 |
372 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA67780684 rs868600926 |
373 | T>K | No |
ClinGen Ensembl |
|
| TCGA novel | 377 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755126547 CA2186345 |
377 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1415022675 CA351175328 |
379 | E>K | No |
ClinGen TOPMed |
|
|
rs1458303862 CA351175291 |
381 | D>H | No |
ClinGen TOPMed |
|
|
rs577893508 CA2186331 |
382 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs577893508 CA351175277 |
382 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 383 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 386 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774277195 CA2186329 |
389 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA67770190 rs367946696 |
389 | S>R | No |
ClinGen ESP TOPMed |
|
|
rs749441498 CA2186327 |
393 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 394 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2186325 rs151288624 |
395 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2186323 rs781484758 |
398 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA2186324 rs746418310 COSM1482919 COSM1482918 |
398 | G>R | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA2186322 rs757631206 |
399 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs751977106 CA2186321 |
400 | N>T | No |
ClinGen ExAC |
|
|
rs142121403 CA2186319 |
401 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753407258 CA2186318 |
401 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA67770162 rs1016638749 |
402 | Y>F | No |
ClinGen gnomAD |
|
|
CA351175031 rs1168029738 |
403 | K>R | No |
ClinGen gnomAD |
|
|
rs1427947740 CA351175025 |
404 | E>* | No |
ClinGen gnomAD |
|
|
rs372318654 CA2186297 |
404 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351174023 rs1446326304 |
406 | W>* | No |
ClinGen gnomAD |
|
|
CA2186296 rs749971593 |
408 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1290745632 CA351173964 |
410 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 410 | D>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767106776 CA2186295 |
411 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1483204019 CA351173962 |
411 | E>K | No |
ClinGen gnomAD |
|
|
CA67767216 rs1044516208 |
411 | E>V | No |
ClinGen TOPMed |
|
|
rs761892099 CA2186294 |
412 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA351173924 rs1330181878 |
414 | N>S | No |
ClinGen gnomAD |
|
|
rs751495394 CA2186293 |
416 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1170613432 CA351173876 |
418 | D>G | No |
ClinGen TOPMed |
|
|
CA351173867 rs1342499662 |
419 | Y>C | No |
ClinGen gnomAD |
|
|
CA2186292 rs764012986 |
419 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA67767193 rs868297280 |
420 | D>N | No |
ClinGen Ensembl |
|
|
rs369420692 CA2186291 |
421 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1395593627 CA351173830 |
422 | E>G | No |
ClinGen gnomAD |
|
|
CA351173808 rs1322525949 |
424 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA2186290 rs775794942 |
424 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA2186289 rs769967136 |
426 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM1210845 CA2186288 rs376565603 COSM1210846 |
429 | R>* | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs776730195 CA2186287 |
429 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 431 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 434 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1475953143 CA351173664 |
437 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 437 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2186286 rs770972977 |
439 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1162225289 CA351173583 |
440 | V>A | No |
ClinGen gnomAD |
|
|
CA351173565 rs1374225084 |
442 | E>D | No |
ClinGen gnomAD |
|
|
rs531718193 CA2186275 |
442 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2186272 rs764066130 |
444 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2186273 rs751548635 |
444 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs752501484 CA2186270 |
451 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs762935128 CA351173503 |
451 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_031495 rs10204742 CA2186269 |
452 | K>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA351173486 rs1210904341 |
453 | L>P | No |
ClinGen TOPMed |
|
|
CA351173485 rs1210904341 |
453 | L>R | No |
ClinGen TOPMed |
|
|
rs760924839 CA67767047 |
454 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA2186267 rs776781487 |
455 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2186266 rs771026031 |
456 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA2186265 rs760678143 |
457 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773270449 CA2186264 |
457 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351173466 rs773270449 |
457 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs189096363 CA2186263 |
459 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
| TCGA novel | 459 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351173443 rs1223594118 |
460 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1386236378 CA351173439 |
461 | R>G | No |
ClinGen Ensembl |
|
|
rs78964459 CA2186261 |
461 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM3695356 COSM3695357 rs201450235 CA2186259 |
462 | P>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs998745100 CA67767003 |
463 | V>A | No |
ClinGen TOPMed |
|
|
CA351173429 rs1574817222 |
463 | V>L | No |
ClinGen Ensembl |
|
|
CA351173416 rs1161054228 |
465 | A>T | No |
ClinGen TOPMed |
|
|
CA351173407 rs1428622230 |
466 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA351173396 rs1389313824 |
468 | K>E | No |
ClinGen TOPMed |
|
|
CA351173388 rs1390086869 |
469 | K>E | No |
ClinGen gnomAD |
|
|
CA351173377 rs1456616764 |
470 | D>G | No |
ClinGen TOPMed |
|
|
CA2186258 rs745549836 |
471 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA351179594 rs1277912236 |
473 | G>E | No |
ClinGen gnomAD |
|
| TCGA novel | 473 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1198499933 CA351179577 |
474 | K>N | No |
ClinGen gnomAD |
|
|
CA351179559 rs1406037084 |
476 | G>S | No |
ClinGen TOPMed |
|
|
CA2186242 rs562707115 |
477 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1348263301 CA351179540 |
477 | K>I | No |
ClinGen gnomAD |
|
|
CA351179523 rs1559386603 |
478 | K>N | No |
ClinGen Ensembl |
|
| TCGA novel | 478 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA67797630 rs761736345 |
480 | E>V | No |
ClinGen Ensembl |
|
|
CA67797629 rs944620924 |
482 | K>N | No |
ClinGen TOPMed |
|
| TCGA novel | 484 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2186241 rs751193001 |
485 | K>T | No |
ClinGen ExAC TOPMed |
|
|
rs1468708063 CA351179394 |
488 | D>N | No |
ClinGen gnomAD |
|
|
rs184817273 CA67797615 |
492 | D>G | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs775984343 CA2186239 |
493 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA2186219 rs776037270 |
495 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs770259008 CA2186217 |
495 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351179106 rs1297037968 |
495 | I>S | No |
ClinGen TOPMed |
|
|
rs776037270 CA2186218 |
495 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs746679624 CA2186216 |
496 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351179094 rs1225207157 |
497 | S>A | No |
ClinGen TOPMed |
|
|
rs1285693755 CA351179091 |
497 | S>F | No |
ClinGen TOPMed |
|
|
CA2186213 rs747632304 |
499 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA67795595 rs968309932 |
500 | K>R | No |
ClinGen gnomAD |
|
|
rs376463893 CA2186211 |
502 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1022582653 CA67795559 |
505 | E>G | No |
ClinGen Ensembl |
|
|
CA351179043 rs1212617158 |
505 | E>K | No |
ClinGen TOPMed |
|
|
CA2186208 rs755865879 |
509 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA67795545 rs865931755 |
511 | A>S | No |
ClinGen Ensembl |
|
|
CA67795544 rs374473599 |
515 | N>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA67795537 rs757408719 |
515 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1018664202 CA67795536 |
515 | N>K | No |
ClinGen TOPMed |
|
|
CA2186205 rs757408719 |
515 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1445742536 CA351178976 |
516 | L>V | No |
ClinGen TOPMed |
|
|
CA351178967 rs751729914 |
517 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2186204 rs751729914 |
517 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2186203 rs764237766 |
518 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs763603681 CA2186202 |
518 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs566035861 CA2186200 |
519 | Y>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2186201 rs566035861 |
519 | Y>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1359599528 CA351178953 |
520 | I>V | No |
ClinGen gnomAD |
|
|
CA351178921 rs1258354246 |
522 | E>D | No |
ClinGen gnomAD |
|
|
rs1211244215 CA351178909 |
524 | S>N | No |
ClinGen gnomAD |
|
|
CA67789706 rs1016967624 |
525 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA351178894 rs1281772647 |
526 | L>P | No |
ClinGen gnomAD |
|
|
rs1368073377 CA351178889 |
527 | G>E | No |
ClinGen Ensembl |
|
|
CA351178891 rs759943685 |
527 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs759943685 CA2186181 |
527 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs1351393418 CA351178882 |
528 | T>I | No |
ClinGen gnomAD |
|
|
rs1351393418 CA351178884 |
528 | T>N | No |
ClinGen gnomAD |
|
|
rs1486323143 CA351178887 |
528 | T>P | No |
ClinGen TOPMed |
|
|
rs1204831129 CA351178880 |
529 | T>A | No |
ClinGen TOPMed |
|
|
rs754292614 CA2186180 |
530 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA2186179 COSM269380 rs370743777 COSM269379 |
531 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs773955526 CA2186177 |
531 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773955526 CA2186178 |
531 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1465489863 CA351178865 |
532 | Q>* | No |
ClinGen gnomAD |
|
|
rs1465489863 CA351178866 |
532 | Q>E | No |
ClinGen gnomAD |
|
| TCGA novel | 534 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768163143 CA2186176 |
535 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2186175 rs200884402 |
536 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA351178829 rs1410817614 |
537 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2186174 rs774970264 |
538 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351178825 rs774970264 |
538 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1026040457 CA67789651 |
538 | M>V | No |
ClinGen Ensembl |
|
|
CA2186172 rs373180298 |
539 | P>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA351178820 rs373180298 |
539 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA351178819 rs373180298 |
539 | P>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA67789640 rs769837398 |
539 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA2186173 rs769837398 |
539 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA67789622 rs1034116969 |
540 | S>F | No |
ClinGen TOPMed |
|
|
CA67789625 rs962482907 |
540 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2186171 rs75960624 |
542 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2186170 rs75960624 |
542 | L>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA351178803 rs1260420870 |
543 | D>Y | No |
ClinGen gnomAD |
|
|
CA67789611 rs1044242704 |
547 | L>H | No |
ClinGen TOPMed gnomAD |
|
|
rs758562055 CA2186167 |
549 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs1330660734 CA351178752 |
551 | Y>H | No |
ClinGen gnomAD |
|
|
CA67789601 rs906871804 |
552 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1380556521 CA351178739 |
553 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs748292031 CA2186166 |
553 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA351178738 rs1380556521 |
553 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 554 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1435627503 CA351178724 |
555 | P>T | No |
ClinGen gnomAD |
|
|
CA351178715 rs1156388001 |
556 | L>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1559378820 CA351178696 |
557 | G>V | No |
ClinGen Ensembl |
|
|
CA2186141 rs758097091 |
558 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA351178673 rs926289731 |
561 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs926289731 CA67786550 |
561 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA2186139 rs752296246 |
561 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs764831802 CA2186138 |
563 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA351178647 rs1402724513 |
565 | A>S | No |
ClinGen gnomAD |
|
|
rs1371827223 CA351178642 |
566 | P>A | No |
ClinGen gnomAD |
|
|
CA2186136 rs776643360 |
566 | P>R | No |
ClinGen ExAC |
|
|
CA351178631 rs1308135820 |
568 | V>M | No |
ClinGen gnomAD |
|
|
COSM1018279 COSM1018277 rs1410995798 CA351178612 |
570 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs142262699 CA2186132 |
575 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs142262699 CA351178587 |
575 | G>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2186130 rs367955587 |
576 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 576 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1183041220 CA351178573 |
577 | S>F | No |
ClinGen gnomAD |
|
|
rs749386302 CA2186128 |
578 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA351178565 rs1182826762 |
579 | V>L | No |
ClinGen Ensembl |
|
|
rs1012930472 CA67786452 |
582 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2186127 rs780178057 |
584 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs770327165 CA2186126 |
585 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA2186125 rs746353421 |
586 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368910435 CA67786448 |
586 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs371386062 CA2186123 |
588 | I>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1335673441 CA351178501 |
589 | C>Y | No |
ClinGen gnomAD |
|
|
CA2186122 rs199782207 |
590 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs778371098 CA2186121 |
590 | T>S | No |
ClinGen ExAC |
|
|
rs750766165 CA67786371 |
591 | E>A | No |
ClinGen Ensembl |
|
|
CA351178492 rs1176186919 |
591 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs753351931 CA2186119 |
592 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760740528 CA2186117 |
593 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1247411536 CA351178475 |
594 | A>T | No |
ClinGen TOPMed |
|
|
rs750348489 CA2186116 |
594 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351178465 rs1442957631 |
595 | N>K | No |
ClinGen gnomAD |
|
|
rs767427353 CA2186115 |
595 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA67786307 rs975450941 |
595 | N>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs761646741 CA2186114 |
600 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1042120336 CA67786294 |
601 | S>T | No |
ClinGen TOPMed |
|
| TCGA novel | 603 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA67786289 rs564287878 |
604 | I>M | No |
ClinGen gnomAD |
|
|
CA351178320 rs1268432866 |
617 | M>V | No |
ClinGen gnomAD |
|
|
rs1222862766 CA351178303 |
619 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs768829050 CA2186112 |
620 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA2186111 COSM1018276 COSM1018274 rs763204451 |
620 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs769817953 CA2186109 |
621 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1248554930 CA351178275 |
623 | K>N | No |
ClinGen TOPMed |
|
|
CA2186089 rs765303279 |
626 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 626 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351178047 rs370612474 |
626 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2186088 rs370612474 |
626 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771491788 CA2186086 |
627 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1188013037 CA351178023 |
630 | P>S | No |
ClinGen TOPMed |
|
|
rs769129654 CA2186083 |
632 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1427018693 CA351178006 |
633 | V>L | No |
ClinGen gnomAD |
|
|
rs890954099 CA67772179 |
635 | I>T | No |
ClinGen gnomAD |
|
|
rs1479921346 CA351177956 |
640 | K>E | No |
ClinGen gnomAD |
|
| rs1559363996 | 641 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2186079 rs779798149 |
644 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA2186078 rs755819558 |
644 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA2186077 rs745442136 |
645 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA67772136 rs201045884 |
645 | K>N | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
| TCGA novel | 645 | K>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780818855 CA351177915 |
646 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780818855 CA2186076 |
646 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351177906 rs1224299772 |
647 | P>L | No |
ClinGen gnomAD |
|
|
CA67772125 rs996704378 |
647 | P>S | No |
ClinGen Ensembl |
|
|
CA351177901 rs751467794 |
648 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2186074 rs751467794 |
648 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351177902 rs751467794 |
648 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370313208 CA2186072 |
649 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776349572 CA67772062 |
651 | K>* | No |
ClinGen gnomAD |
|
|
rs776349572 CA351177884 |
651 | K>E | No |
ClinGen gnomAD |
|
|
rs752873949 CA2186071 |
652 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373671978 CA2186038 |
655 | P>R | No |
ClinGen ESP ExAC TOPMed |
|
|
CA2186037 rs186626813 |
657 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2186036 rs770359937 |
657 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2186035 rs770359937 |
657 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351177821 rs1406425889 |
659 | K>E | No |
ClinGen gnomAD |
|
|
rs1481353383 CA351177803 |
661 | H>N | No |
ClinGen TOPMed |
|
| TCGA novel | 661 | H>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs34285002 CA2186034 |
663 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1302041966 CA351177782 |
664 | Q>R | No |
ClinGen gnomAD |
|
|
CA67768647 rs999495727 |
665 | I>T | No |
ClinGen TOPMed |
|
|
rs1043467214 CA67768628 |
668 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 671 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1426351448 CA351177723 |
673 | D>G | No |
ClinGen TOPMed |
|
|
rs746688702 CA2186031 |
674 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2186032 rs772085966 |
674 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2186029 rs754724280 |
677 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs780384290 CA2186027 |
680 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA2186025 rs202161626 |
682 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs756288404 CA2186026 |
682 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA67768595 rs888260791 |
683 | R>C | No |
ClinGen TOPMed |
|
|
CA2186024 rs367642284 |
683 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367642284 CA351177587 |
683 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752074063 CA2186022 |
686 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA351177531 rs1345798697 |
686 | D>V | No |
ClinGen gnomAD |
|
| TCGA novel | 686 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2186020 rs764560574 |
688 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA2186019 rs763350170 |
689 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA2186018 rs775982280 |
690 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs770683456 CA2186017 |
692 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs115960780 CA351177419 |
693 | C>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2186016 rs115960780 |
693 | C>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1169044604 CA351177384 |
694 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 696 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2186015 rs772823250 |
696 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351177303 rs1430326431 |
700 | I>T | No |
ClinGen gnomAD |
|
|
rs1329975238 CA351177286 |
702 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs771431029 CA2186014 |
703 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA351177252 rs1281346341 |
704 | R>K | No |
ClinGen gnomAD |
|
|
CA67768550 rs1046747719 |
706 | D>N | No |
ClinGen TOPMed |
|
|
rs748601541 CA67768548 |
706 | D>V | No |
ClinGen Ensembl |
|
|
CA2186013 rs748111416 |
707 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2186011 rs771458278 |
708 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771458278 CA2186012 |
708 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 709 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs554522242 CA2186010 |
710 | R>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs779686716 | 711 | Y>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351177172 rs1205402491 |
712 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 713 | L>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749205606 CA2185991 |
714 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA351176432 rs1350569722 |
714 | W>* | No |
ClinGen gnomAD |
|
|
CA2185990 rs775382228 |
716 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA67765173 rs984205571 |
717 | I>V | No |
ClinGen Ensembl |
|
|
rs554367462 CA2185989 |
718 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA351176350 rs1446051869 |
720 | R>C | No |
ClinGen gnomAD |
|
|
rs201561106 CA2185987 |
720 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201561106 CA351176349 |
720 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs757537649 CA2185986 |
721 | N>S | No |
ClinGen ExAC |
|
|
CA351176326 rs1400136232 |
722 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs370619076 CA67765162 |
722 | G>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1040558243 CA67765157 |
724 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA351176284 rs1165353126 |
726 | T>A | No |
ClinGen gnomAD |
|
|
rs1445191355 CA351176266 |
727 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA2185985 rs747151460 |
729 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776834186 CA67765153 |
729 | L>M | No |
ClinGen Ensembl |
|
|
CA2185983 rs759022174 |
730 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA2185984 rs777968376 |
730 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs1005008125 CA67765142 |
730 | N>Y | No |
ClinGen TOPMed |
|
|
rs753092332 CA2185982 |
731 | V>I | No |
ClinGen ExAC gnomAD |
|
|
COSM1406520 rs750101433 CA2185979 COSM1406521 |
735 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1360845273 CA351176152 |
737 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA351176155 rs1360845273 |
737 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA2185975 rs763550479 |
740 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 745 | H>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762980074 CA2185974 |
745 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2185973 rs775227160 |
746 | I>T | No |
ClinGen ExAC gnomAD |
|
|
COSM1018268 CA2185970 COSM1018270 rs776560283 |
748 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs776560283 CA2185971 |
748 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2185969 COSM1738770 rs771315730 COSM1738771 |
753 | V>M | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs747208677 CA2185968 |
754 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778016707 CA2185967 |
756 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1476647968 CA351175932 |
756 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 756 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2185966 rs758512911 |
757 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1214572235 CA351175915 |
757 | Q>P | No |
ClinGen TOPMed |
|
|
rs1214572235 CA351175914 |
757 | Q>R | No |
ClinGen TOPMed |
|
|
rs748693092 CA2185965 |
758 | R>I | No |
ClinGen ExAC gnomAD |
|
|
COSM245050 rs754197069 CA2185962 |
760 | R>Q | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs374268870 CA2185963 |
760 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs958942925 CA67765047 |
761 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA351175865 rs1285026629 |
762 | Q>* | No |
ClinGen gnomAD |
|
|
CA351175852 rs1218227339 |
763 | I>L | No |
ClinGen gnomAD |
|
|
rs1034323129 CA67765033 |
764 | H>Q | No |
ClinGen gnomAD |
|
|
rs1316335332 CA351175834 |
764 | H>R | No |
ClinGen gnomAD |
|
|
rs186089380 CA2185960 |
767 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2185958 rs1553605930 |
768 | T>I | No |
ClinGen Ensembl |
|
|
CA2185957 rs751173127 |
770 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1018265 COSM1018267 CA2185956 rs763603117 |
774 | T>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1020416281 CA67764986 |
775 | A>T | No |
ClinGen TOPMed |
|
|
COSM1018264 rs765152475 CA2185953 COSM1018262 |
775 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA2185951 rs776613335 |
776 | I>K | No |
ClinGen ExAC gnomAD |
|
|
CA2185950 rs770796635 |
777 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs957583099 CA67764971 |
778 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA2185949 rs761008931 |
779 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA351175654 rs1393530749 |
779 | M>V | No |
ClinGen TOPMed |
|
|
CA2185948 rs773500381 |
780 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA351175609 rs772204575 |
782 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772204575 CA2185947 |
782 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351175617 rs1307918828 |
782 | V>M | No |
ClinGen TOPMed |
|
|
CA2185946 rs748232404 |
784 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1028984417 CA67764930 |
785 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA2185945 rs779021675 |
786 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351175549 rs1456598938 |
787 | E>K | No |
ClinGen gnomAD |
|
|
rs369153148 CA2185925 |
794 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs202020826 CA2185926 |
794 | Y>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 795 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1290098939 CA351174643 |
796 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA2185923 rs770275869 |
798 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA351174624 rs1190202508 |
798 | P>S | No |
ClinGen TOPMed |
|
|
rs1427517931 CA351174597 |
801 | K>E | No |
ClinGen TOPMed |
|
|
CA351174564 rs1559353042 |
803 | R>C | No |
ClinGen Ensembl |
|
|
rs371853586 CA2185921 |
803 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 803 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA351174553 rs1387447464 |
804 | A>P | No |
ClinGen gnomAD |
|
|
CA351174526 rs758032787 |
806 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1461565538 CA351174532 |
806 | A>T | No |
ClinGen TOPMed |
|
|
CA2185920 rs758032787 |
806 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA351174490 rs1574700524 |
809 | G>* | No |
ClinGen Ensembl |
|
|
rs754443986 CA2185917 |
810 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA351174452 rs1437921329 |
812 | T>A | No |
ClinGen TOPMed |
|
|
CA351174446 rs1559352998 |
812 | T>R | No |
ClinGen Ensembl |
|
|
rs1289775956 CA351174429 |
814 | K>E | No |
ClinGen TOPMed |
|
|
CA2185915 rs766480307 |
815 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs753839073 CA2185916 |
815 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351174384 rs1361557596 |
817 | D>G | No |
ClinGen gnomAD |
|
|
CA67762101 rs983923686 |
818 | K>E | No |
ClinGen Ensembl |
|
|
rs756113692 CA2185914 |
818 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA351174362 CA2185913 rs368918258 |
819 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA351174344 rs1297190260 |
820 | K>R | No |
ClinGen gnomAD |
|
|
rs1382462838 CA351174327 |
821 | R>M | No |
ClinGen gnomAD |
|
|
rs767295192 CA2185912 |
822 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2185911 rs761973128 |
822 | K>I | No |
ClinGen ExAC gnomAD |
|
|
rs774566163 CA2185910 |
823 | K>K | No |
ClinGen ExAC gnomAD |
|
|
CA351174287 rs774566163 |
823 | K>Q | No |
ClinGen ExAC gnomAD |
No associated diseases with Q86XH1
5 regional properties for Q86XH1
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Dbl homology (DH) domain | 236 - 433 | IPR000219 |
| domain | Pleckstrin homology domain | 473 - 574 | IPR001849 |
| domain | Protein kinase C-like, phorbol ester/diacylglycerol-binding domain | 39 - 86 | IPR002219 |
| domain | ARHGEF2, PH domain | 471 - 586 | IPR037806 |
| domain | ARHGEF1-like, PH domain | 464 - 571 | IPR041020 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytoskeleton | A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. |
| motile cilium | A cilium which may have a variable arrangement of axonemal microtubules and also contains molecular motors. It may beat with a whip-like pattern that promotes cell motility or transport of fluids and other cells across a cell surface, such as on epithelial cells that line the lumenal ducts of various tissues; or they may display a distinct twirling motion that directs fluid flow asymmetrically across the cellular surface to affect asymmetric body plan organization. Motile cilia can be found in single as well as multiple copies per cell. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP hydrolysis activity | Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient. |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
8 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O75351 | VPS4B | Vacuolar protein sorting-associated protein 4B | Homo sapiens (Human) | PR |
| Q9UN37 | VPS4A | Vacuolar protein sorting-associated protein 4A | Homo sapiens (Human) | EV |
| O75449 | KATNA1 | Katanin p60 ATPase-containing subunit A1 | Homo sapiens (Human) | PR |
| Q9UBP0 | SPAST | Spastin | Homo sapiens (Human) | PR |
| A6NCM1 | IQCA1L | IQ and AAA domain-containing protein 1-like | Homo sapiens (Human) | PR |
| Q6PIW4 | FIGNL1 | Fidgetin-like protein 1 | Homo sapiens (Human) | PR |
| A6H690 | Iqca1l | IQ and AAA domain-containing protein 1-like | Mus musculus (Mouse) | PR |
| Q9CUL5 | Iqca1 | Dynein regulatory complex protein 11 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSNAMYNKMW | HQTQEALGAL | LDKEPQKMIE | PQRNQVFIFQ | TLATFYVKYV | QIFRNLENVY |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DQFVHPQKRI | LIRKVLDGVM | GRILELKNEM | VELELTEFHY | FDDILQDLKL | APQQLDIPIP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KYFLKEKLEV | IKGREKILAQ | ILADSGIDTS | DMKYPVKSIP | FDEAVKLIQI | AERARQGRLR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| ALFMKQIYLQ | EYRAKQSKML | GKKVTDTWAA | ALRIQKVWRR | FHQRKETEKL | REEEMIFLGM |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NPPPLFNEVS | ATVIQAEKVD | RLRNEVQIKH | EEDYREALVT | IKNDLKLIEG | VDIKENLQDQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| IRHWFIECRN | LTGTFPDYPD | VEEGGSAIIF | SDKTIQQVIE | DIIANQEEEE | KNKKKKKKKE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KQPKKAKKQK | KGTKEKNKEE | DEKWKMSPSL | FLPAMKEGCN | AYKEIWMKKD | ESWNFSQDYD |
| 430 | 440 | 450 | 460 | 470 | 480 |
| PELIKEEKRK | ELQSEIRIQV | DELMRQELKN | LKLAVDRERE | RPVKAGKKKD | KKGKKGKKKE |
| 490 | 500 | 510 | 520 | 530 | 540 |
| KKAKKDKDLT | ADRTIESLYK | ELVEEGLLIQ | ALKVNLSDYI | GEYSYLGTTL | RQVSIEPMPS |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LLDVRQLITL | YGIWPLGSAA | VHEKAPLVKS | LLLAGPSGVG | KKMLVHAICT | ETGANLFNLS |
| 610 | 620 | 630 | 640 | 650 | 660 |
| SSNIAGKYPG | KNGLQMMLHA | VFKVARQLQP | SVVWIEDTEK | TFYKKVPNAE | KMNEPKRLKK |
| 670 | 680 | 690 | 700 | 710 | 720 |
| HLPQILKLLK | PDDRILIVGT | TRRPFDAELQ | SFCKVYQKII | LVPRPDYASR | YVLWKQIIER |
| 730 | 740 | 750 | 760 | 770 | 780 |
| NGGVLTSALN | VSCLAKVTDG | FTQGHIVEVV | KGVLTDQRIR | RQIHKPLTAV | EFITAITSMN |
| 790 | 800 | 810 | 820 | ||
| PVYKEEEESF | KNWYAKTPLG | KKRALAITGG | STEKAKDKGK | RK |