Q9HA65
PR
Gene name |
TBC1D17 |
Protein name |
TBC1 domain family member 17 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:79735 |
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 Q9HA65
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9HA65-F1 | Predicted | AlphaFoldDB |
671 variants for Q9HA65
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA309515683 rs909953469 |
2 | E>G | No |
ClinGen TOPMed |
|
|
rs984168641 CA309515677 |
2 | E>K | No |
ClinGen TOPMed |
|
|
CA9587425 rs752308773 |
3 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs866927674 CA309515691 |
4 | A>V | No |
ClinGen Ensembl |
|
|
CA406901243 rs1391952430 |
5 | G>D | No |
ClinGen TOPMed |
|
|
rs777534657 CA9587427 |
5 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9587428 rs370592224 |
6 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1421180275 CA406901253 |
7 | R>G | No |
ClinGen gnomAD |
|
|
CA406901276 rs1600440911 |
8 | V>G | No |
ClinGen Ensembl |
|
|
rs1369069086 CA406901272 |
8 | V>L | No |
ClinGen gnomAD |
|
|
CA406901278 rs1331447654 |
9 | V>L | No |
ClinGen TOPMed |
|
|
rs769982618 CA9587453 |
10 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9587454 rs777787351 |
11 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9587455 CA406901303 rs202194413 |
12 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs770579085 CA9587456 |
13 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406901309 rs1319941193 |
14 | G>R | No |
ClinGen gnomAD |
|
|
rs144737346 CA9587459 |
16 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406901331 rs1455365329 |
17 | L>P | No |
ClinGen TOPMed |
|
|
CA406901337 rs1189272275 |
18 | H>R | No |
ClinGen gnomAD |
|
|
rs917600748 CA309516338 |
19 | T>S | No |
ClinGen TOPMed |
|
|
CA406901348 rs1474598765 |
20 | S>G | No |
ClinGen TOPMed |
|
|
rs760037815 CA9587461 |
20 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406901353 rs1184171911 |
21 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 22 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1568671743 CA406901364 |
22 | K>N | No |
ClinGen Ensembl |
|
|
CA309516379 rs759075735 |
22 | K>R | No |
ClinGen gnomAD |
|
|
rs1241936662 CA406901378 |
24 | Y>C | No |
ClinGen TOPMed |
|
|
CA309516403 rs867258368 |
25 | Q>R | No |
ClinGen Ensembl |
|
|
rs1170568179 CA406901396 |
26 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 26 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 27 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406901403 rs1394854383 |
28 | D>H | No |
ClinGen gnomAD |
|
|
CA406901402 rs1394854383 |
28 | D>N | No |
ClinGen gnomAD |
|
|
rs753384830 CA309516432 |
29 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753384830 CA9587464 |
29 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9587463 rs763676011 |
29 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406901412 rs753384830 |
29 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9587465 rs761559919 |
30 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA9587466 rs368512102 |
31 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1250689785 CA406901429 |
32 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1250689785 CA406901430 |
32 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9587468 rs755451595 |
33 | G>V | No |
ClinGen ExAC |
|
|
CA9587469 rs781763439 |
36 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 38 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9587470 rs753257348 |
39 | E>K | No |
ClinGen ExAC |
|
|
CA9587471 rs756086406 |
40 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA406901479 rs1264769797 |
40 | K>N | No |
ClinGen gnomAD |
|
|
rs1392936831 CA406901617 |
41 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 45 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs968148616 CA309518739 |
49 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9587493 rs764547310 |
50 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1258476854 CA406901746 |
51 | V>E | No |
ClinGen gnomAD |
|
|
rs534507894 CA309518783 |
51 | V>I | No |
ClinGen Ensembl |
|
|
rs1177136542 CA406901773 |
53 | E>A | No |
ClinGen TOPMed |
|
|
rs757397837 CA9587495 |
53 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs779044992 COSM135847 CA9587496 |
54 | A>T | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1467484174 CA406901791 |
55 | G>R | No |
ClinGen gnomAD |
|
|
CA309518811 rs914365559 |
56 | D>V | No |
ClinGen Ensembl |
|
|
rs758141914 CA406901821 |
57 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA9587498 rs758141914 |
57 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1418765802 CA406901824 |
58 | T>P | No |
ClinGen gnomAD |
|
|
rs959244195 CA309518818 |
60 | I>V | No |
ClinGen TOPMed |
|
|
CA406901843 rs140642328 |
61 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs140642328 CA9587499 |
61 | L>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1458472536 CA406901847 |
62 | F>I | No |
ClinGen gnomAD |
|
| TCGA novel | 62 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768614069 CA9587501 |
63 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs377244722 CA9587502 |
64 | K>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1168098349 CA406902274 |
67 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1275394872 CA406902259 |
67 | S>T | No |
ClinGen TOPMed |
|
|
CA406902281 rs1435001923 |
68 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs773944416 CA9587532 |
68 | S>R | No |
ClinGen ExAC |
|
|
rs933609968 CA309520539 |
69 | G>R | No |
ClinGen Ensembl |
|
|
rs761036572 CA9587533 |
69 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA309520548 rs971353440 |
70 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA406902326 rs1401314864 |
71 | D>E | No |
ClinGen gnomAD |
|
|
CA406902348 rs1441227848 |
73 | C>Y | No |
ClinGen TOPMed |
|
|
CA406902372 rs1213281136 |
74 | A>V | No |
ClinGen gnomAD |
|
|
CA406902393 rs1600444666 |
76 | E>K | No |
ClinGen Ensembl |
|
|
rs1303909519 CA406902410 |
77 | E>K | No |
ClinGen gnomAD |
|
|
rs768919296 CA9587535 |
78 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA9587536 rs777147259 |
79 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA9587537 COSM267550 rs572709837 |
80 | T>A | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA9587538 rs765774093 |
80 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750482125 CA9587539 |
82 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs8109661 CA406902546 |
84 | G>A | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
VAR_060276 CA309520607 rs8109661 |
84 | G>D | No |
ClinGen UniProt 1000Genomes ESP ExAC dbSNP gnomAD |
|
|
CA9587542 rs763076005 |
84 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9587541 rs763076005 |
84 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406902548 rs8109661 |
84 | G>V | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA9587544 rs150711060 |
85 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1003800993 CA309520643 |
87 | P>L | No |
ClinGen TOPMed |
|
|
rs1158436662 CA406902654 |
90 | A>T | No |
ClinGen TOPMed |
|
|
rs1421085418 CA406902694 |
92 | I>V | No |
ClinGen gnomAD |
|
|
CA9587546 rs752638226 |
94 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 95 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM252864 CA9587548 rs368116942 |
96 | R>Q | ovary [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs756084780 CA9587547 |
96 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA406903740 rs748805106 |
98 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9587549 rs748805106 |
98 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs3745486 CA406903749 |
99 | L>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9587550 rs3745486 VAR_024655 |
99 | L>P | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA406903750 rs3745486 |
99 | L>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9587552 rs201573080 |
100 | C>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9587554 rs371768869 |
102 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406903805 rs1311158894 |
104 | P>H | No |
ClinGen TOPMed |
|
|
rs1038152730 CA309520666 |
104 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs899321303 CA406903817 |
105 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
rs899321303 CA309520667 |
105 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA406903827 rs1381620299 |
106 | R>K | No |
ClinGen TOPMed |
|
|
CA9587587 rs757115468 |
107 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406903933 rs757115468 |
107 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 108 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA309521513 rs1049720378 |
109 | E>D | No |
ClinGen TOPMed |
|
|
CA9587588 rs765271670 |
109 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA406903950 rs1341304148 |
110 | P>L | No |
ClinGen gnomAD |
|
|
rs1271962127 CA406903954 |
111 | S>G | No |
ClinGen gnomAD |
|
|
CA406903956 rs1167156778 |
111 | S>N | No |
ClinGen TOPMed |
|
|
CA406903964 rs1435748947 |
112 | C>Y | No |
ClinGen gnomAD |
|
|
CA9587592 rs746674345 |
113 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA9587591 rs779613134 |
113 | P>S | No |
ClinGen ExAC TOPMed |
|
|
CA406903979 rs1469036789 |
114 | Q>H | No |
ClinGen gnomAD |
|
|
CA9587595 rs749701630 |
115 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406903983 rs1175992294 COSM340507 |
115 | G>C | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs749701630 CA406903984 |
115 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1175992294 CA406903981 |
115 | G>S | No |
ClinGen gnomAD |
|
|
rs1476001812 CA406903991 |
116 | S>C | No |
ClinGen gnomAD |
|
|
rs1394738750 CA406903997 |
117 | W>* | No |
ClinGen gnomAD |
|
|
CA406904006 rs1416425621 |
118 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1416425621 CA406904004 |
118 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1313696001 CA406904014 |
119 | F>L | No |
ClinGen gnomAD |
|
|
rs1374992658 CA406904024 |
121 | V>A | No |
ClinGen gnomAD |
|
|
CA406904028 rs1458911303 |
122 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1280108171 CA406904047 |
125 | E>Q | No |
ClinGen gnomAD |
|
|
CA309521579 rs1040341184 |
129 | I>T | No |
ClinGen TOPMed |
|
|
CA309521572 rs977962869 |
129 | I>V | No |
ClinGen Ensembl |
|
|
rs759561917 CA9587599 |
130 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9587600 rs146455335 |
130 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9587601 rs547479893 |
131 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA9587602 rs764452231 |
131 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA309521599 rs764452231 |
131 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776549644 CA9587603 |
132 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776549644 CA309521614 |
132 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9587605 rs765084835 |
138 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs750375696 CA9587607 |
140 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs932605496 CA309521665 |
142 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA9587610 rs751168952 |
144 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA406904235 rs1455850070 |
145 | T>N | No |
ClinGen gnomAD |
|
|
CA309521695 rs969965264 |
146 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs776760091 CA309521703 |
146 | Q>R | No |
ClinGen Ensembl |
|
|
rs754593364 CA9587611 |
148 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA406904280 rs1600446170 |
149 | G>D | No |
ClinGen Ensembl |
|
|
rs1432452742 CA406904275 |
149 | G>S | No |
ClinGen TOPMed |
|
| TCGA novel | 149 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780871278 CA9587612 |
150 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA406904307 rs1300149985 |
152 | P>S | No |
ClinGen gnomAD |
|
|
rs191915696 CA9587614 |
153 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9587615 rs779232092 |
154 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA9587618 rs369555273 |
155 | H>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9587617 rs369555273 |
155 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747139182 CA9587619 |
157 | H>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 158 | R>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9587620 rs57256087 |
158 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA406904382 rs912616149 |
158 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA309521781 rs912616149 |
158 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA406904386 COSM1240373 rs1448776633 |
159 | G>R | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs761451694 CA9587623 |
160 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs570272653 CA9587624 |
162 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs537329465 CA9587625 |
162 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs527461980 CA406904428 |
163 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs527461980 CA9587626 |
163 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9587627 rs766339254 |
165 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9587628 rs556053028 |
166 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9587629 rs573671420 |
166 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1453153601 CA406904467 |
167 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs752397818 CA9587631 |
169 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs201954182 CA9587632 |
170 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs779368014 CA9587633 |
170 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9587634 rs779368014 |
170 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9587635 rs758952464 |
174 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA309522661 rs991788735 |
177 | S>P | No |
ClinGen Ensembl |
|
|
COSM1228575 CA9587670 rs146631204 |
178 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA9587671 rs146631204 |
178 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9587669 rs749077533 |
178 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA406904771 rs1195109730 |
180 | D>N | No |
ClinGen TOPMed |
|
|
rs771946065 CA9587673 |
181 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1021867923 CA309522700 |
182 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA9587674 rs375593030 |
182 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA406904855 rs980504474 |
184 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs980504474 CA309522713 |
184 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1377666230 CA406904870 |
185 | L>F | No |
ClinGen gnomAD |
|
|
CA309522729 rs143405462 |
186 | V>A | No |
ClinGen ESP |
|
|
rs1490176899 CA406904889 |
186 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA406904921 rs1216803811 |
187 | F>C | No |
ClinGen gnomAD |
|
|
CA406904919 rs1216803811 |
187 | F>S | No |
ClinGen gnomAD |
|
|
rs763801107 CA9587677 |
188 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA406904941 rs1282740977 |
189 | H>N | No |
ClinGen gnomAD |
|
|
rs201130851 CA9587678 |
189 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 189 | H>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1282740977 CA406904943 |
189 | H>Y | No |
ClinGen gnomAD |
|
|
rs1210282025 CA406904957 |
190 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1188179146 CA406904981 |
191 | S>A | No |
ClinGen gnomAD |
|
|
rs764531503 CA9587680 |
191 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406904984 rs764531503 |
191 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767954461 CA9587683 |
193 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9587684 rs373427164 |
193 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs543612370 CA9587685 |
194 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1008818496 CA309522750 |
195 | S>A | No |
ClinGen Ensembl |
|
|
rs1356911093 CA406905042 |
195 | S>Y | No |
ClinGen gnomAD |
|
|
rs578178317 CA406905057 |
196 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9587686 rs578178317 |
196 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs578178317 CA9587687 |
196 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9587689 rs375285814 |
197 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA309522771 rs918391317 |
198 | F>V | No |
ClinGen TOPMed |
|
|
CA9587690 rs151237175 |
200 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA406905125 rs1348905308 |
201 | L>V | No |
ClinGen gnomAD |
|
|
rs541377240 CA9587692 |
202 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA406905139 rs1276647800 |
202 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs368404165 CA9587695 |
205 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1186480057 CA406905221 |
206 | Q>* | No |
ClinGen gnomAD |
|
|
CA406905216 rs1186480057 |
206 | Q>K | No |
ClinGen gnomAD |
|
|
CA406905254 rs1181755253 |
207 | D>E | No |
ClinGen TOPMed |
|
|
CA406905244 rs1301828260 |
207 | D>H | No |
ClinGen gnomAD |
|
|
rs909782346 CA309522783 |
208 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA406905290 rs765018848 |
210 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765018848 CA9587697 |
210 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9587698 rs774830710 |
211 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA406905312 rs1372801162 |
212 | V>L | No |
ClinGen gnomAD |
|
|
rs150427628 CA9587699 |
213 | S>* | No |
ClinGen 1000Genomes ESP TOPMed |
|
|
rs150427628 CA406905328 |
213 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP NCI-TCGA TOPMed |
|
CA406905382 rs1226568213 |
214 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs753900994 COSM1681224 CA9587725 |
214 | R>H | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs753900994 CA9587724 |
214 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1209050497 CA406905421 |
216 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA309523047 rs969345118 |
216 | L>H | No |
ClinGen TOPMed gnomAD |
|
|
CA309523063 rs371818142 |
220 | Y>H | No |
ClinGen ESP |
|
|
CA9587727 rs750628693 |
221 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750628693 CA406905530 |
221 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406905557 rs1600447653 |
223 | T>P | No |
ClinGen Ensembl |
|
|
rs1189366730 CA406905606 |
224 | F>C | No |
ClinGen gnomAD |
|
|
CA9587730 rs751408473 |
224 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406905597 rs1481784999 |
224 | F>L | No |
ClinGen gnomAD |
|
|
CA406905670 rs377217207 |
228 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377217207 CA9587732 |
228 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM3422996 rs1444014043 CA406905677 |
229 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs544130948 CA9587734 |
229 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs141720138 CA9587735 |
230 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1371679552 CA406905700 |
231 | T>N | No |
ClinGen TOPMed |
|
|
CA9587736 rs777510359 |
232 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs368615936 CA309523143 |
233 | F>L | No |
ClinGen ESP |
|
|
CA406905771 rs748913091 |
235 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406905776 rs772441296 |
235 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9587738 rs772441296 |
235 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748913091 CA9587737 |
235 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1600447772 CA406905796 |
236 | G>C | No |
ClinGen Ensembl |
|
|
CA9587743 rs761827049 |
237 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs372374861 CA9587745 |
239 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376341286 CA9587746 |
240 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 240 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766669857 CA9587747 |
241 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA406905905 rs1257565931 |
242 | P>T | No |
ClinGen gnomAD |
|
|
CA9587749 rs754882698 |
243 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA309523181 rs1050135634 |
245 | A>P | No |
ClinGen Ensembl |
|
|
rs143612001 CA9587751 |
246 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs755635895 CA9587752 |
247 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748879279 CA9587754 |
248 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406906021 rs1395444978 |
249 | L>V | No |
ClinGen gnomAD |
|
|
rs756847586 CA9587756 |
250 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406906038 rs756847586 |
250 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA309523198 rs866601971 |
250 | P>S | No |
ClinGen Ensembl |
|
|
rs146013154 CA406906050 |
251 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146013154 CA9587757 |
251 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9587760 rs777076286 |
253 | P>L | Variant assessed as Somatic; 5.434e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9587765 rs751204115 |
254 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763147251 CA9587764 |
254 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9587762 rs200460228 COSM2153990 |
254 | D>H | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA9587763 rs200460228 |
254 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs763147251 CA406906084 |
254 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200460228 CA406906079 |
254 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs774633814 CA9587766 |
255 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1342547148 CA406906129 |
257 | P>L | No |
ClinGen Ensembl |
|
|
rs767440024 CA9587768 |
258 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406906192 rs1464615275 |
262 | E>A | No |
ClinGen gnomAD |
|
|
CA406906187 rs1377209858 |
262 | E>K | No |
ClinGen gnomAD |
|
|
rs1160316288 CA406906202 |
263 | V>I | No |
ClinGen gnomAD |
|
|
rs1401186538 CA406906229 |
265 | S>P | No |
ClinGen gnomAD |
|
|
CA309523849 rs749068058 |
267 | V>A | No |
ClinGen TOPMed |
|
|
CA406906951 rs749068058 |
267 | V>G | No |
ClinGen TOPMed |
|
|
rs1305589473 CA406906948 |
267 | V>L | No |
ClinGen gnomAD |
|
|
CA406906968 rs1320287051 |
270 | G>E | No |
ClinGen gnomAD |
|
|
CA9587799 rs778080823 |
270 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs779105684 CA9587802 |
272 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9587801 rs770873433 |
272 | R>W | Variant assessed as Somatic; 4.992e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA406906986 rs1203143891 |
274 | T>A | No |
ClinGen gnomAD |
|
|
CA406906994 rs1346007920 |
275 | V>E | No |
ClinGen TOPMed |
|
|
rs372969922 CA9587804 |
275 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760332105 CA9587806 |
276 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs775859658 CA9587805 |
276 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776396019 CA406907004 |
277 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9587808 rs776396019 |
277 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768520028 CA9587807 |
277 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770726296 CA406907014 |
279 | P>L | No |
ClinGen gnomAD |
|
|
rs770726296 CA309523925 |
279 | P>R | No |
ClinGen gnomAD |
|
|
rs1003583239 CA309523919 |
279 | P>S | No |
ClinGen Ensembl |
|
|
CA406907017 rs1306263927 |
280 | P>S | No |
ClinGen TOPMed |
|
|
rs571915339 CA9587811 |
282 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA406907059 rs1302778340 |
286 | W>* | No |
ClinGen gnomAD |
|
|
rs762514021 CA9587812 |
286 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA9587813 rs765945925 |
288 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374395158 CA9587814 |
288 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9587815 rs374395158 |
288 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9587817 rs141271222 |
290 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs779632028 CA9587819 |
291 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA406907086 rs1600448694 |
291 | G>S | No |
ClinGen Ensembl |
|
|
rs745877011 CA9587820 |
292 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA9587821 rs772292993 |
292 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA9587823 rs77434034 |
295 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9587824 rs372112489 |
295 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9587825 rs372112489 |
295 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9587822 rs77434034 |
295 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 296 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406907128 rs1448559827 |
298 | Q>R | No |
ClinGen gnomAD |
|
|
CA406907132 rs1186274953 |
299 | V>I | No |
ClinGen gnomAD |
|
|
rs1205068781 CA406907139 |
300 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1205068781 CA406907138 |
300 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA9587828 rs773133509 |
301 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA406907154 rs1357957309 |
302 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA9587829 rs762389492 |
303 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs111561249 CA9587831 |
304 | N>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA406907169 rs1433257261 |
304 | N>K | No |
ClinGen gnomAD |
|
|
rs192395449 CA9587833 |
305 | R>Q | Variant assessed as Somatic; 4.669e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9587832 rs144381223 |
305 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9587837 rs775563779 |
308 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA309524103 rs981425127 |
309 | G>E | No |
ClinGen Ensembl |
|
|
rs780254431 CA9587839 |
309 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1233331700 CA406907208 |
310 | G>C | No |
ClinGen TOPMed |
|
|
rs1233331700 CA406907207 |
310 | G>S | No |
ClinGen TOPMed |
|
| TCGA novel | 312 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1167603788 CA406907231 |
313 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1568675585 CA406907235 |
314 | S>N | No |
ClinGen Ensembl |
|
|
rs755861390 CA9587861 |
314 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA309524209 rs1047256594 |
315 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs201844752 CA9587864 |
316 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9587863 rs201844752 |
316 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368312327 CA9587862 |
316 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9587865 rs577875385 |
317 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs139889935 CA9587866 |
317 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139889935 CA9587867 |
317 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9587870 rs117240064 |
318 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA406907248 rs117240064 |
318 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA406907259 rs1227466327 |
319 | A>V | No |
ClinGen gnomAD |
|
|
rs145889009 CA9587871 |
321 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1269359028 CA406907294 |
324 | L>P | No |
ClinGen TOPMed |
|
|
rs1190208119 CA406907317 |
328 | S>G | No |
ClinGen gnomAD |
|
|
CA309524248 rs951739206 |
330 | E>K | No |
ClinGen Ensembl |
|
|
rs1472681452 CA406907342 |
331 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA406907340 rs1472681452 |
331 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA9587873 rs766847344 |
333 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9587874 rs752017150 |
335 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA9587877 rs148925843 |
336 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759608204 CA9587876 |
336 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1427813114 CA406907379 |
337 | K>E | No |
ClinGen gnomAD |
|
|
rs1336100233 CA406907391 |
338 | A>V | No |
ClinGen gnomAD |
|
|
CA406907402 rs1340933898 |
340 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9587879 rs375403850 |
341 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs375403850 CA406907408 |
341 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9587880 rs778027067 |
341 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778027067 CA309524304 |
341 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406907407 rs375403850 |
341 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs778862160 CA9587883 |
344 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs778862160 CA309524325 |
344 | T>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 345 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1388127108 CA406907526 |
345 | D>G | No |
ClinGen gnomAD |
|
|
CA9587909 rs769523624 |
345 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9587908 rs769523624 |
345 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746299813 CA9587911 |
346 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1323708545 CA406907538 |
346 | E>G | No |
ClinGen gnomAD |
|
|
CA9587912 rs775980643 |
347 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA9587913 rs760696818 |
349 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9587914 rs749223360 |
349 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA309525038 rs749223360 |
349 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1712619 rs761920110 CA9587916 |
350 | M>I | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA309525052 rs201261535 |
350 | M>T | No |
ClinGen Ensembl |
|
|
rs546615609 CA9587915 |
350 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9587918 rs750183708 |
352 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1568676060 CA406907631 |
353 | Q>P | No |
ClinGen Ensembl |
|
|
CA406907642 rs1568676070 |
354 | W>R | No |
ClinGen Ensembl |
|
|
CA406907666 rs1266847609 |
355 | K>T | No |
ClinGen gnomAD |
|
|
rs766364862 CA9587920 |
358 | S>I | No |
ClinGen ExAC |
|
|
rs754494147 CA9587922 |
359 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9587921 rs751560911 |
359 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA406907731 rs1472858656 |
360 | E>G | No |
ClinGen gnomAD |
|
|
CA406907724 rs1600449932 |
360 | E>K | No |
ClinGen Ensembl |
|
|
rs780814778 CA9587923 |
362 | E>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 362 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770687209 CA9587925 |
363 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747740250 CA9587924 |
363 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9587926 rs777546994 |
366 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201753517 CA309525142 |
367 | L>F | No |
ClinGen 1000Genomes |
|
|
CA9587928 rs772499963 |
369 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1345157669 CA406907833 |
371 | Y>* | No |
ClinGen TOPMed |
|
|
CA9587929 rs775935860 |
372 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406907837 rs775935860 |
372 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9587930 rs147045240 |
372 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 372 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1286909227 CA406907851 |
373 | S>N | No |
ClinGen gnomAD |
|
|
CA406907862 rs1413199595 |
374 | L>F | No |
ClinGen TOPMed |
|
|
CA9587931 rs147687652 |
375 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406907886 rs374232022 |
376 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9587933 rs374232022 |
376 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs374232022 CA406907885 |
376 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1161114114 CA406907985 |
378 | D>G | No |
ClinGen TOPMed |
|
|
rs1412701462 CA406907980 |
378 | D>N | No |
ClinGen TOPMed |
|
|
CA406908007 rs1237584751 |
380 | S>N | No |
ClinGen TOPMed |
|
|
rs142401175 CA9587960 |
381 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA9587961 rs752694367 |
381 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1162868346 CA406908023 |
382 | T>A | No |
ClinGen gnomAD |
|
|
rs536191876 CA9587962 |
384 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs753337539 CA9587964 |
386 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs756888959 CA9587965 |
386 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406908075 rs1250413628 |
387 | K>Q | No |
ClinGen TOPMed |
|
|
rs185547871 CA9587966 |
387 | K>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA309525938 rs927203743 |
388 | F>S | No |
ClinGen Ensembl |
|
|
CA9587969 rs781498902 |
390 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9587968 rs755346450 |
390 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA406908122 rs1255265517 |
391 | G>S | No |
ClinGen gnomAD |
|
|
rs1296989794 CA406908140 |
392 | P>S | No |
ClinGen TOPMed |
|
|
rs375486914 CA9587971 |
393 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406908173 rs1431320007 |
394 | N>I | No |
ClinGen TOPMed |
|
|
rs777889393 CA406908175 |
394 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA9587973 rs201849933 |
395 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201849933 CA9587974 |
395 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA309526002 rs1042794630 |
395 | P>S | No |
ClinGen Ensembl |
|
|
CA9587976 rs759348105 |
398 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA406908249 rs1459174663 |
399 | L>Q | No |
ClinGen gnomAD |
|
|
rs760637954 CA9587979 COSM1304934 |
402 | D>N | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA406908337 rs1295426025 |
404 | L>F | No |
ClinGen gnomAD |
|
|
rs1218653442 CA406908369 |
406 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1220256513 CA883151373 |
407 | Y>* | No |
ClinGen Ensembl |
|
|
CA309526046 rs1039625992 |
407 | Y>* | No |
ClinGen Ensembl |
|
|
CA406908441 rs1321275363 |
409 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs753382933 CA9587981 |
409 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753382933 CA406908423 |
409 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1230039767 CA406908463 |
410 | Y>C | No |
ClinGen gnomAD |
|
|
rs1268500039 CA406908530 |
413 | D>E | No |
ClinGen gnomAD |
|
|
rs1316027549 CA406908547 |
414 | L>R | No |
ClinGen gnomAD |
|
|
CA406908638 rs1335046978 |
415 | G>A | No |
ClinGen gnomAD |
|
|
CA309526082 rs996271718 |
415 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1439793098 CA406908642 |
416 | Y>H | No |
ClinGen gnomAD |
|
|
rs758641196 CA9588013 COSM999493 |
417 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA309526317 rs958051589 |
419 | G>S | No |
ClinGen TOPMed |
|
|
rs202133410 CA9588016 COSM191938 |
420 | M>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs746757674 CA9588015 |
420 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1205178435 CA406909216 |
421 | S>G | No |
ClinGen gnomAD |
|
|
rs1272957444 CA406909222 |
422 | D>N | No |
ClinGen gnomAD |
|
|
CA406909233 rs748041922 |
423 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748041922 CA9588019 |
423 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 424 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9588021 rs772699117 |
425 | S>A | No |
ClinGen ExAC |
|
|
rs762440970 CA9588022 |
426 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9588025 rs761052874 |
428 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9588027 rs560487269 |
430 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs368672248 CA406909277 |
431 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9588028 rs368672248 |
431 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406909282 rs765910885 |
432 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9588029 rs765910885 |
432 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406909291 rs1267283248 |
433 | N>Y | No |
ClinGen TOPMed |
|
|
rs1366862000 CA406909299 |
434 | E>A | No |
ClinGen gnomAD |
|
|
rs780271939 CA9588032 |
434 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA9588031 rs369129252 |
434 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA406909303 rs1269050134 |
435 | V>M | No |
ClinGen gnomAD |
|
|
rs1394998875 CA406909314 |
436 | D>G | No |
ClinGen TOPMed |
|
|
CA406909310 COSM1304935 rs1357484611 |
436 | D>H | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
| TCGA novel | 436 | D>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406909317 rs1221430033 |
437 | A>T | No |
ClinGen gnomAD |
|
|
CA406909324 rs1271214158 |
438 | F>L | No |
ClinGen gnomAD |
|
|
CA309526702 rs942434026 |
440 | C>R | No |
ClinGen gnomAD |
|
|
CA9588034 rs755264350 |
441 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA406909402 rs1361710922 |
443 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1361710922 CA406909406 |
443 | G>V | No |
ClinGen gnomAD |
|
|
CA406909433 rs1465487739 |
445 | M>I | No |
ClinGen gnomAD |
|
|
rs780938906 CA406909423 CA9588035 |
445 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780938906 CA9588036 |
445 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371515406 CA9588037 |
447 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA309526785 rs376680096 |
448 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9588040 rs376680096 |
448 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9588073 rs759621307 |
451 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 451 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9588075 rs767672041 |
452 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9588076 rs752942176 |
453 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs899187557 CA309527024 |
453 | E>G | No |
ClinGen Ensembl |
|
|
CA9588077 rs1555815774 |
454 | E>D | No |
ClinGen Ensembl |
|
|
CA9588079 rs755865407 |
455 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 456 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9588081 rs753716316 COSM999494 |
457 | E>D | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs763767736 CA9588080 |
457 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1340862102 CA406909661 |
458 | T>A | No |
ClinGen TOPMed |
|
|
rs199533550 CA309527038 CA406909683 |
459 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs142816596 CA9588083 |
459 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA406909673 rs1231299627 |
459 | M>V | No |
ClinGen TOPMed |
|
|
rs1319584145 CA406909687 |
460 | K>E | No |
ClinGen gnomAD |
|
|
rs745311773 CA9588085 |
461 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779810423 CA9588086 |
461 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745311773 CA9588084 |
461 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs746626348 CA9588087 |
462 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA9588091 rs771279922 |
464 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA309527070 rs200514856 |
465 | R>Q | No |
ClinGen gnomAD |
|
|
CA406909775 rs1305273618 |
468 | L>M | No |
ClinGen gnomAD |
|
|
CA9588092 rs774938209 |
469 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs760864392 CA9588096 |
472 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1014092943 CA309527095 |
472 | V>L | No |
ClinGen Ensembl |
|
|
rs1276722739 CA406909837 |
474 | D>H | No |
ClinGen gnomAD |
|
|
CA406909853 rs753509322 |
475 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406909851 rs753509322 |
475 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9588098 rs753509322 |
475 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406909885 rs1183824715 |
479 | D>G | No |
ClinGen gnomAD |
|
|
rs750415950 COSM287815 CA9588101 |
479 | D>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs758447594 CA9588102 |
480 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406910608 rs780661941 |
483 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA9588126 rs780661941 |
483 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA9588127 rs752428679 |
484 | Q>* | No |
ClinGen ExAC |
|
|
CA406910618 rs1343418054 |
484 | Q>R | No |
ClinGen gnomAD |
|
|
CA406910651 rs1213088476 |
487 | G>S | No |
ClinGen gnomAD |
|
|
CA9588133 rs747041754 |
489 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776612429 CA9588135 |
491 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9588137 rs769965199 |
494 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs762070572 CA9588136 |
494 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA309531552 rs1011262262 |
495 | W>* | No |
ClinGen TOPMed |
|
|
CA406910744 rs773132035 |
495 | W>G | No |
ClinGen ExAC gnomAD |
|
|
rs773132035 CA9588138 |
495 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs758933536 CA9588142 |
498 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA309531562 rs761439211 |
498 | I>N | No |
ClinGen Ensembl |
|
|
CA9588143 rs1555816225 |
499 | W>C | No |
ClinGen Ensembl |
|
|
CA9588145 rs767025576 |
501 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs752199101 CA9588146 |
505 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA9588147 rs752199101 |
505 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs777470390 CA9588148 |
507 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1221709365 CA406910917 |
508 | D>A | No |
ClinGen gnomAD |
|
|
rs758783345 CA9588150 |
509 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9588152 rs202045956 |
510 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA309531592 rs202045956 |
510 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs769090977 CA9588153 |
512 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA406910966 rs1600454493 |
513 | W>G | No |
ClinGen Ensembl |
|
|
rs1600454505 CA406910987 |
514 | E>G | No |
ClinGen Ensembl |
|
|
rs763562597 CA9588186 |
518 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9588187 rs776166774 |
519 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9588189 rs764932412 |
522 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA309531823 rs764643637 |
522 | G>V | No |
ClinGen gnomAD |
|
|
CA406911117 rs1173833851 |
523 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA9588191 rs149454222 |
524 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA309531828 rs946205711 |
526 | H>P | No |
ClinGen TOPMed |
|
|
CA309531836 rs948052040 |
527 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA406911179 rs1325256923 |
529 | V>L | No |
ClinGen gnomAD |
|
|
rs371659502 CA9588193 |
531 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371659502 CA406911201 |
531 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406911212 rs756728908 |
532 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs756728908 COSM1395365 CA9588194 |
532 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA406911250 rs1281521552 |
535 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs749437805 CA9588196 |
536 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs777980861 CA9588195 |
536 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406911266 rs1282231460 |
537 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA406911268 rs1282231460 |
537 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs757549629 CA9588197 |
538 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA9588198 rs538794819 |
539 | D>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA406911289 rs1480002380 |
540 | T>A | No |
ClinGen gnomAD |
|
|
rs377070731 CA309531912 |
540 | T>N | No |
ClinGen ESP |
|
|
CA406911288 rs1480002380 |
540 | T>P | No |
ClinGen gnomAD |
|
|
rs1347858847 CA406911321 |
545 | G>S | No |
ClinGen TOPMed |
|
|
CA9588201 rs779937679 |
549 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746925907 CA9588202 |
552 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA406911433 rs1260792372 |
554 | H>N | No |
ClinGen gnomAD |
|
|
rs960701221 CA309532289 |
555 | I>V | No |
ClinGen Ensembl |
|
|
CA9588245 rs781065492 |
557 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs748049741 CA9588247 |
557 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA406911459 rs781065492 |
557 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA309532318 rs868658839 |
561 | K>N | No |
ClinGen gnomAD |
|
|
CA406911495 rs1020623230 |
562 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1344690673 CA406911507 |
564 | V>M | No |
ClinGen gnomAD |
|
|
rs1367327760 CA406911526 |
566 | D>E | No |
ClinGen gnomAD |
|
|
rs139825604 CA9588252 |
566 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1405376671 CA406911530 |
567 | V>L | No |
ClinGen gnomAD |
|
|
CA9588253 rs546960931 |
569 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9588254 rs546960931 |
569 | T>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9588255 rs777183309 |
570 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs913989839 CA406911551 |
571 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA9588257 rs765838306 |
571 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs913989839 CA309532349 |
571 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1294633063 CA406911552 |
572 | E>K | No |
ClinGen gnomAD |
|
|
rs112666878 CA9588259 |
573 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA309532365 rs979657995 |
573 | A>V | No |
ClinGen Ensembl |
|
|
CA9588260 rs766535823 |
574 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1344907532 CA406911572 |
575 | H>R | No |
ClinGen TOPMed |
|
|
rs1301802985 CA406911586 |
577 | Q>L | No |
ClinGen TOPMed |
|
|
CA9588262 rs755236082 |
579 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406911595 rs1481784773 |
579 | T>P | No |
ClinGen gnomAD |
|
|
CA9588265 rs756005620 |
581 | C>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 581 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA406911614 rs1387068415 |
582 | P>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 583 | E>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9588292 rs748408193 |
584 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406911646 rs932470573 |
585 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs932470573 CA309532518 |
585 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA406911656 rs1600457056 |
587 | N>H | No |
ClinGen Ensembl |
|
|
rs1047444481 CA309532531 |
588 | V>A | No |
ClinGen gnomAD |
|
|
rs778035971 CA9588294 |
588 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA309532534 rs866174648 |
589 | Q>K | No |
ClinGen Ensembl |
|
|
rs1378522706 CA406911688 |
591 | I>N | No |
ClinGen gnomAD |
|
|
rs1171266344 CA406911705 |
594 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1410791898 CA406911711 |
595 | A>V | No |
ClinGen gnomAD |
|
|
CA9588298 rs759621360 |
596 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9588297 rs774413095 |
596 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9588299 rs772223963 |
597 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA309532575 rs1035280487 |
598 | A>G | No |
ClinGen Ensembl |
|
|
rs763920456 CA406911721 |
598 | A>S | No |
ClinGen ExAC TOPMed |
|
|
rs763920456 CA9588302 |
598 | A>T | No |
ClinGen ExAC TOPMed |
|
|
CA406911746 rs1330232493 |
601 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA9588304 rs761836593 |
603 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406911755 rs761836593 |
603 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9588305 rs765269899 |
604 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA406911761 rs1600457203 |
604 | S>P | No |
ClinGen Ensembl |
|
|
rs1243033234 CA406911771 |
606 | T>P | No |
ClinGen TOPMed |
|
|
rs1285350497 CA406911775 |
606 | T>S | No |
ClinGen gnomAD |
|
|
rs1268320381 CA406911788 |
608 | S>F | No |
ClinGen gnomAD |
|
|
CA406911783 rs1224930492 |
608 | S>P | No |
ClinGen gnomAD |
|
|
CA406911785 rs1224930492 |
608 | S>T | No |
ClinGen gnomAD |
|
|
CA406911792 rs1197179638 |
609 | P>L | No |
ClinGen gnomAD |
|
|
rs34814003 CA309532598 |
610 | L>M | No |
ClinGen Ensembl |
|
|
CA9588307 rs757999707 |
610 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs376165198 CA9588309 |
611 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9588308 rs779529079 |
611 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs754632723 CA9588310 |
614 | P>L | No |
ClinGen ExAC TOPMed |
|
|
rs754632723 CA406911816 |
614 | P>R | No |
ClinGen ExAC TOPMed |
|
|
rs1389551576 CA406911813 |
614 | P>S | No |
ClinGen gnomAD |
|
|
CA406911817 rs1294799282 |
615 | T>P | No |
ClinGen TOPMed |
|
|
CA406911823 rs1212714150 |
616 | R>G | No |
ClinGen TOPMed |
|
|
rs1384768747 CA406911826 |
616 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1384768747 CA406911827 |
616 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1445892841 CA406911833 |
617 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1307007895 CA406911839 |
618 | P>L | No |
ClinGen gnomAD |
|
|
rs1266167591 CA406911846 |
620 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA9588311 rs778189515 |
622 | P>L | No |
ClinGen ExAC TOPMed |
|
|
CA406911862 rs778189515 |
622 | P>R | No |
ClinGen ExAC TOPMed |
|
|
CA406911863 rs1268952195 |
623 | P>T | No |
ClinGen Ensembl |
|
|
CA406911873 rs1178498962 |
624 | S>F | No |
ClinGen gnomAD |
|
|
CA406911871 rs1458506666 |
624 | S>P | No |
ClinGen gnomAD |
|
|
rs749684795 CA9588312 |
625 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749684795 CA406911875 |
625 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406911893 rs1467375987 |
627 | T>I | No |
ClinGen TOPMed |
|
|
CA406911890 rs1193388671 |
627 | T>P | No |
ClinGen TOPMed |
|
|
rs1430985271 CA406911897 |
628 | A>D | No |
ClinGen gnomAD |
|
|
CA406912409 rs771365166 |
629 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9588313 rs771365166 |
629 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA406912425 rs960670360 |
632 | D>H | No |
ClinGen gnomAD |
|
|
rs960670360 CA309532644 |
632 | D>N | No |
ClinGen gnomAD |
|
|
rs1020978153 CA309532666 |
633 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA406912452 rs1384887636 |
636 | E>K | No |
ClinGen gnomAD |
|
|
CA406912464 rs1309167782 |
637 | I>S | No |
ClinGen TOPMed |
|
|
rs1296133208 CA406912470 |
638 | L>P | No |
ClinGen TOPMed |
|
|
rs979575519 CA406912478 |
640 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs979575519 CA309532682 |
640 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1339974639 CA406912493 |
642 | E>K | No |
ClinGen gnomAD |
|
|
rs1051350761 CA406912509 |
644 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA406912512 rs1198399608 |
644 | E>G | No |
ClinGen gnomAD |
|
|
rs1051350761 CA309532691 |
644 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1295942781 CA406912522 |
646 | A>T | No |
ClinGen TOPMed |
|
|
rs1254806118 CA406912534 |
647 | D>E | No |
ClinGen gnomAD |
|
|
CA406912528 rs1463023337 |
647 | D>N | No |
ClinGen gnomAD |
|
|
rs1463023337 CA406912530 |
647 | D>Y | No |
ClinGen gnomAD |
|
|
rs1194792051 CA406912540 |
648 | S>C | No |
ClinGen gnomAD |
|
|
rs1194792051 CA406912539 |
648 | S>F | No |
ClinGen gnomAD |
|
|
CA406912537 rs1421556432 |
648 | S>P | No |
ClinGen gnomAD |
No associated diseases with Q9HA65
Functions
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| autophagosome | A double-membrane-bounded compartment that engulfs endogenous cellular material as well as invading microorganisms to target them to the lytic vacuole/lysosome for degradation as part of macroautophagy. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| recycling endosome | An organelle consisting of a network of tubules that functions in targeting molecules, such as receptors transporters and lipids, to the plasma membrane. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| GTPase activator activity | Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| activation of GTPase activity | Any process that initiates the activity of an inactive GTPase through the replacement of GDP by GTP. |
| autophagy | The cellular catabolic process in which cells digest parts of their own cytoplasm; allows for both recycling of macromolecular constituents under conditions of cellular stress and remodeling the intracellular structure for cell differentiation. |
| protein transport | The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| retrograde transport, endosome to Golgi | The directed movement of membrane-bounded vesicles from endosomes back to the trans-Golgi network where they are recycled for further rounds of transport. |
29 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P48365 | GYP7 | GTPase-activating protein GYP7 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| A0A087X1G2 | TBC1D3K | TBC1 domain family member 3K | Homo sapiens (Human) | PR |
| B9A6J9 | TBC1D3L | TBC1 domain family member 3L | Homo sapiens (Human) | PR |
| Q66K14 | TBC1D9B | TBC1 domain family member 9B | Homo sapiens (Human) | PR |
| Q6ZT07 | TBC1D9 | TBC1 domain family member 9 | Homo sapiens (Human) | PR |
| Q6DHY5 | TBC1D3G | TBC1 domain family member 3G | Homo sapiens (Human) | PR |
| A0A087WVF3 | TBC1D3D | TBC1 domain family member 3D | Homo sapiens (Human) | PR |
| A0A087WXS9 | TBC1D3I | TBC1 domain family member 3I | Homo sapiens (Human) | PR |
| P0C7X1 | TBC1D3H | TBC1 domain family member 3H | Homo sapiens (Human) | PR |
| A0A087X179 | TBC1D3E | TBC1 domain family member 3E | Homo sapiens (Human) | PR |
| A6NDS4 | TBC1D3B | TBC1 domain family member 3B | Homo sapiens (Human) | PR |
| Q8WUA7 | TBC1D22A | TBC1 domain family member 22A | Homo sapiens (Human) | PR |
| Q8IZP1 | TBC1D3 | TBC1 domain family member 3 | Homo sapiens (Human) | PR |
| Q6IPX1 | TBC1D3C | TBC1 domain family member 3C | Homo sapiens (Human) | PR |
| A6NER0 | TBC1D3F | TBC1 domain family member 3F | Homo sapiens (Human) | PR |
| Q8IV04 | TBC1D10C | Carabin | Homo sapiens (Human) | PR |
| Q5TC63 | GRTP1 | Growth hormone-regulated TBC protein 1 | Homo sapiens (Human) | PR |
| O60343 | TBC1D4 | TBC1 domain family member 4 | Homo sapiens (Human) | PR |
| Q86TI0 | TBC1D1 | TBC1 domain family member 1 | Homo sapiens (Human) | PR |
| O60447 | EVI5 | Ecotropic viral integration site 5 protein homolog | Homo sapiens (Human) | PR |
| Q3MII6 | TBC1D25 | TBC1 domain family member 25 | Homo sapiens (Human) | PR |
| Q2NKQ1 | SGSM1 | Small G protein signaling modulator 1 | Homo sapiens (Human) | PR |
| Q8TC07 | TBC1D15 | TBC1 domain family member 15 | Homo sapiens (Human) | PR |
| O95759 | TBC1D8 | TBC1 domain family member 8 | Homo sapiens (Human) | PR |
| Q0IIM8 | TBC1D8B | TBC1 domain family member 8B | Homo sapiens (Human) | PR |
| Q8TEA7 | TBCK | TBC domain-containing protein kinase-like protein | Homo sapiens (Human) | PR |
| Q9UPU7 | TBC1D2B | TBC1 domain family member 2B | Homo sapiens (Human) | PR |
| A1A5B6 | Tbc1d25 | TBC1 domain family member 25 | Mus musculus (Mouse) | PR |
| Q8BYH7 | Tbc1d17 | TBC1 domain family member 17 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEGAGYRVVF | EKGGVYLHTS | AKKYQDRDSL | IAGVIRVVEK | DNDVLLHWAP | VEEAGDSTQI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LFSKKDSSGG | DSCASEEEPT | FDPGYEPDWA | VISTVRPQLC | HSEPTRGAEP | SCPQGSWAFS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VSLGELKSIR | RSKPGLSWAY | LVLVTQAGGS | LPALHFHRGG | TRALLRVLSR | YLLLASSPQD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SRLYLVFPHD | SSALSNSFHH | LQLFDQDSSN | VVSRFLQDPY | STTFSSFSRV | TNFFRGALQP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QPEGAASDLP | PPPDDEPEPG | FEVISCVELG | PRPTVERGPP | VTEEEWARHV | GPEGRLQQVP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ELKNRIFSGG | LSPSLRREAW | KFLLGYLSWE | GTAEEHKAHI | RKKTDEYFRM | KLQWKSVSPE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QERRNSLLHG | YRSLIERDVS | RTDRTNKFYE | GPENPGLGLL | NDILLTYCMY | HFDLGYVQGM |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SDLLSPILYV | IQNEVDAFWC | FCGFMELVQG | NFEESQETMK | RQLGRLLLLL | RVLDPLLCDF |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LDSQDSGSLC | FCFRWLLIWF | KREFPFPDVL | RLWEVLWTGL | PGPNLHLLVA | CAILDMERDT |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LMLSGFGSNE | ILKHINELTM | KLSVEDVLTR | AEALHRQLTA | CPELPHNVQE | ILGLAPPAEP |
| 610 | 620 | 630 | 640 | ||
| HSPSPTASPL | PLSPTRAPPT | PPPSTDTAPQ | PDSSLEILPE | EEDEGADS |