O43909
PR
Gene name |
EXTL3 |
Protein name |
Exostosin-like 3 |
Names |
EXT-related protein 1, Glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase, Hereditary multiple exostoses gene isolog, Multiple exostosis-like protein 3, Putative tumor suppressor protein EXTL3 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:2137 |
EC number |
2.4.1.223: Hexosyltransferases |
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
5 structures for O43909
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7AU2 | EM | 243 A | A/B | 51-919 | PDB |
| 7AUA | EM | 293 A | A/B | 51-919 | PDB |
| 8OG1 | X-ray | 158 A | A | 52-919 | PDB |
| 8OG4 | X-ray | 210 A | A/B | 52-919 | PDB |
| AF-O43909-F1 | Predicted | AlphaFoldDB |
676 variants for O43909
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001865846 RCV001336372 rs780815544 CA4695910 |
8 | R>W | Immunoskeletal dysplasia with neurodevelopmental abnormalities [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001291787 CA370856390 COSM604991 rs1369665958 |
158 | R>* | lung Immunoskeletal dysplasia with neurodevelopmental abnormalities [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
RCV000761559 rs749621890 COSM184653 CA370858101 RCV001592949 |
318 | P>L | Immunoskeletal dysplasia with neurodevelopmental abnormalities large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002525738 CA370858238 VAR_079089 RCV000477727 rs747676107 |
339 | R>W | Immunoskeletal dysplasia with neurodevelopmental abnormalities ISDNA; changed glycosaminoglycan synthesis [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
VAR_079090 CA4696188 RCV002506247 RCV000514411 rs116659770 |
442 | V>L | Immunoskeletal dysplasia with neurodevelopmental abnormalities [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_079091 CA4696202 RCV000477674 rs554294508 |
461 | P>L | Immunoskeletal dysplasia with neurodevelopmental abnormalities Variant assessed as Somatic; 0.0 impact. ISDNA; changed glycosaminoglycan synthesis [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA370859942 rs1332006145 VAR_079092 |
513 | R>C | Variant assessed as Somatic; 0.0 impact. ISDNA; changed glycosaminoglycan synthesis; no localization to Golgi apparatus in patient fibroblasts [NCI-TCGA, UniProt] | Yes |
ClinGen UniProt NCI-TCGA dbSNP gnomAD |
|
RCV002544996 rs145090231 CA4696246 RCV001306257 |
528 | N>H | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA4696317 VAR_079093 RCV000477700 rs770842408 RCV001865420 |
657 | N>S | Immunoskeletal dysplasia with neurodevelopmental abnormalities ISDNA; changed glycosaminoglycan synthesis [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
| VAR_079094 | 670 | Y>D | ISDNA; changed glycosaminoglycan synthesis [UniProt] | Yes | UniProt |
|
CA370852809 rs1298903588 |
5 | T>N | No |
ClinGen gnomAD |
|
|
CA370852820 rs1347702717 |
6 | M>T | No |
ClinGen gnomAD |
|
|
rs200921766 CA4695911 |
8 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA370852845 rs1312963540 |
9 | N>D | No |
ClinGen gnomAD |
|
|
CA4695912 rs769508161 |
9 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA370852868 rs1264461919 |
11 | G>C | No |
ClinGen TOPMed |
|
|
CA4695914 rs763360624 |
11 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs560537560 CA4695916 |
12 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA370852886 rs1189210843 |
13 | G>R | No |
ClinGen gnomAD |
|
|
rs1414709528 CA370852900 |
14 | N>Y | No |
ClinGen gnomAD |
|
|
rs1385814446 CA370852907 |
15 | G>R | No |
ClinGen gnomAD |
|
|
CA174385203 rs760747700 |
18 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4695920 rs760747700 |
18 | T>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4695921 rs764257611 |
19 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1308377814 CA370852951 |
20 | M>V | No |
ClinGen TOPMed |
|
|
rs754077651 CA4695922 |
22 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758164674 CA4695923 |
22 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4695924 rs779935879 |
25 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA174385214 rs779935879 |
25 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141948891 CA4695925 |
26 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4695926 rs146905864 |
26 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 26 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747658857 CA4695928 |
28 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA4695929 rs769451210 |
28 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1563214321 CA370853015 |
30 | T>K | No |
ClinGen Ensembl |
|
| TCGA novel | 31 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs148369935 CA174385234 |
31 | W>C | No |
ClinGen ESP |
|
|
rs1471389911 CA370853032 |
33 | S>C | No |
ClinGen TOPMed |
|
|
CA370853034 rs1450991757 |
33 | S>T | No |
ClinGen gnomAD |
|
|
COSM1456497 rs748989305 CA4695931 |
35 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs760566359 CA174385264 |
42 | F>V | No |
ClinGen gnomAD |
|
|
CA370853119 CA370853125 rs1404120770 |
43 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA4695934 rs759830072 |
43 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA4695935 rs772563405 |
44 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1206548528 CA370853154 |
46 | I>V | No |
ClinGen TOPMed |
|
|
CA4695937 rs760693109 |
47 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370853183 rs1292768003 |
48 | H>P | No |
ClinGen gnomAD |
|
|
CA4695940 rs754024716 |
54 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1046622436 CA174385329 |
57 | A>D | No |
ClinGen TOPMed |
|
|
CA4695942 rs762082642 |
58 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1367385422 CA370853344 |
60 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4695943 rs369033887 |
60 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1165566898 CA370853354 |
61 | G>S | No |
ClinGen gnomAD |
|
|
CA4695945 rs754765415 |
62 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1306594714 CA370853379 |
62 | K>R | No |
ClinGen gnomAD |
|
|
rs376529517 CA4695948 |
63 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4695947 rs373430705 |
63 | R>W | Variant assessed as Somatic; 0.0004159 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4695949 rs369407692 |
66 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748933869 CA4695950 |
67 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA4695951 rs150466027 |
68 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370853438 rs1227523499 |
68 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs746203687 CA4695953 |
69 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs746203687 CA370853455 |
69 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA174385385 rs778434439 |
69 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778434439 CA4695952 |
69 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1563214469 CA370853471 |
70 | G>V | No |
ClinGen Ensembl |
|
|
rs776040229 CA4695955 |
72 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376405458 CA370853562 |
74 | C>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776636386 CA4695958 |
75 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1392426000 CA370853583 |
76 | V>M | No |
ClinGen gnomAD |
|
|
CA4695962 rs759352865 |
79 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA4695961 rs374083446 |
79 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM173460 CA4695960 rs374083446 |
79 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA370853764 rs1367166867 COSM269123 |
84 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs764137887 CA4695966 |
85 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA4695967 rs753330593 |
86 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1035328996 CA174385461 |
87 | E>D | No |
ClinGen TOPMed |
|
|
rs756747852 CA4695968 |
88 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs745551307 CA4695970 |
90 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745551307 CA4695971 |
90 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4695972 rs780460600 |
91 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs777157868 CA4695975 |
95 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs967044101 CA174385556 |
99 | K>R | No |
ClinGen TOPMed |
|
|
rs189382426 CA370853995 |
100 | R>C | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1467794442 CA370853997 |
100 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1467794442 CA370853998 |
100 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs189382426 CA174385568 |
100 | R>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA4695977 rs769813480 |
105 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA4695979 rs763152974 |
106 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs199979119 CA4695981 |
108 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA4695982 rs760548680 |
115 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs764082441 CA4695983 |
115 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA370854102 rs1234964105 |
116 | A>T | No |
ClinGen gnomAD |
|
|
CA4695984 rs753849077 |
118 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA370854134 rs1327939171 |
120 | S>N | No |
ClinGen gnomAD |
|
|
CA370854142 rs1206263993 |
121 | I>T | No |
ClinGen gnomAD |
|
|
CA370854155 rs1354557014 |
123 | N>D | No |
ClinGen gnomAD |
|
|
rs764690060 CA4695986 |
124 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs180762998 CA174385673 |
124 | A>V | No |
ClinGen 1000Genomes |
|
|
CA370854167 rs1216444416 |
125 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 125 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4695987 rs750083020 |
125 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs916779409 CA174385701 |
126 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1435209586 CA370854176 |
126 | Q>R | No |
ClinGen gnomAD |
|
|
rs751884851 CA4695990 |
130 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs755362611 CA4695991 |
130 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA370854207 rs1161502916 |
131 | L>F | No |
ClinGen gnomAD |
|
|
CA4695993 rs748643272 |
133 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA370854242 rs1563214622 |
134 | V>I | No |
ClinGen Ensembl |
|
|
rs1563214625 CA370854254 |
135 | I>V | No |
ClinGen Ensembl |
|
|
rs1277745450 CA370854300 |
137 | Q>* | No |
ClinGen TOPMed |
|
|
rs749401888 CA4695996 |
139 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1303435674 CA370856229 |
142 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA4695997 rs553322275 |
143 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1289705445 CA370856276 |
145 | L>F | No |
ClinGen gnomAD |
|
|
rs982329451 CA174385780 |
146 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs760497265 CA4695999 |
146 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA4695998 rs774744882 |
146 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370856311 rs1210775683 |
147 | A>V | No |
ClinGen gnomAD |
|
|
CA370856341 rs1482209574 |
150 | Q>E | No |
ClinGen gnomAD |
|
|
rs966098930 CA174385787 |
156 | P>H | No |
ClinGen gnomAD |
|
|
rs376071203 CA4696002 |
157 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1366627170 CA370856385 |
157 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs573052861 CA370856393 |
158 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4696003 rs573052861 |
158 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA370856415 rs1425589851 |
162 | E>G | No |
ClinGen TOPMed |
|
|
CA4696007 rs751265343 |
162 | E>K | No |
ClinGen ExAC |
|
| TCGA novel | 163 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA174385798 rs929998739 |
164 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs929998739 CA370856427 |
164 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs375243395 CA4696009 |
165 | D>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA gnomAD |
|
rs375243395 CA174385803 |
165 | D>N | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs753235953 CA4696010 |
166 | A>V | No |
ClinGen ExAC gnomAD |
|
|
COSM604990 CA370856444 rs1207644267 |
167 | G>S | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA4696013 rs749286787 |
171 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA174385822 rs749286787 |
171 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749286787 CA370856471 |
171 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1425513134 CA370856484 |
173 | A>G | No |
ClinGen gnomAD |
|
|
rs148681587 CA4696016 |
175 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs560576617 CA4696017 |
175 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs148681587 CA4696015 |
175 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs538938900 CA370856494 |
176 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4696018 rs538938900 COSM1331034 |
176 | G>S | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA174385869 rs997984760 |
176 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4696020 rs769580017 |
178 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs761680214 CA4696019 |
178 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4696022 rs762349032 |
180 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA4696021 rs773224897 |
180 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1258974374 CA370856520 |
181 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4696024 rs773992427 |
181 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1231039269 CA370856555 |
185 | Y>C | No |
ClinGen gnomAD |
|
|
rs1347194871 CA370856563 |
186 | S>C | No |
ClinGen gnomAD |
|
|
rs201375409 CA4696025 |
187 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1585273119 CA370856590 |
191 | T>P | No |
ClinGen Ensembl |
|
|
rs560420727 CA4696028 |
195 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200373495 CA4696029 |
195 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs560420727 CA4696027 |
195 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4696033 rs368473155 |
198 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368473155 CA4696032 |
198 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1432248123 CA370856765 |
206 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs747851404 CA4696036 |
209 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs1360452263 CA370856818 |
210 | L>V | No |
ClinGen gnomAD |
|
|
rs569422474 CA4696037 |
213 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4696038 RCV001303340 rs139144293 |
220 | A>S | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA370856951 rs1209716217 |
220 | A>V | No |
ClinGen TOPMed |
|
|
CA370856976 rs1387054206 |
222 | A>G | No |
ClinGen gnomAD |
|
|
rs749295482 CA4696039 |
223 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770418802 CA4696040 COSM275027 |
223 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA4696043 rs531742587 |
226 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4696042 rs531742587 |
226 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA370857038 rs1303671122 |
228 | V>I | No |
ClinGen gnomAD |
|
|
rs778305250 CA174386051 |
230 | E>K | No |
ClinGen Ensembl |
|
|
rs775228239 CA4696044 |
232 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA370857114 rs147818144 |
233 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA370857122 rs1379286689 |
233 | D>V | No |
ClinGen TOPMed |
|
|
CA4696045 rs147818144 |
233 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs764555341 CA4696046 |
234 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA370857145 rs1217786288 |
235 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1217786288 CA370857142 |
235 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA4696049 rs371352200 |
239 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370857218 rs1403396265 |
241 | L>I | No |
ClinGen gnomAD |
|
|
CA4696050 rs750460572 |
242 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1007303315 CA174386096 |
242 | V>L | No |
ClinGen TOPMed |
|
|
rs780119052 CA4696052 |
243 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs755857749 CA370857249 |
244 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs755857749 CA4696054 |
244 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA174386116 rs769514265 |
245 | M>I | No |
ClinGen Ensembl |
|
|
rs1425586642 CA370857268 |
246 | Q>L | No |
ClinGen TOPMed |
|
|
CA370857267 rs1425586642 |
246 | Q>R | No |
ClinGen TOPMed |
|
|
rs1585273308 CA370857275 |
247 | E>G | No |
ClinGen Ensembl |
|
|
CA4696055 rs375285295 |
248 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 249 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1265785111 CA370857305 |
250 | V>A | No |
ClinGen TOPMed |
|
|
rs774306440 CA4696058 |
251 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs771658558 CA370857324 |
252 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4696060 rs771658558 |
252 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4696059 rs554162593 |
252 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1248841409 CA370857336 |
253 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA174386146 rs566700102 |
253 | P>S | No |
ClinGen 1000Genomes gnomAD |
|
|
CA370857338 rs1331237389 |
254 | A>T | No |
ClinGen gnomAD |
|
|
CA370857359 rs1585273360 |
255 | E>G | No |
ClinGen Ensembl |
|
|
CA174386168 rs990390667 |
259 | Q>R | No |
ClinGen TOPMed |
|
|
COSM1205871 CA4696062 rs760437749 |
260 | L>F | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA370857435 rs1226243263 |
261 | Y>F | No |
ClinGen TOPMed |
|
|
rs768888582 CA4696063 |
261 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1563214974 CA370857451 |
262 | S>F | No |
ClinGen Ensembl |
|
|
CA370857444 rs1585273386 |
262 | S>P | No |
ClinGen Ensembl |
|
|
CA4696067 rs751017977 |
265 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751017977 CA370857479 |
265 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4696069 rs373044711 |
267 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs558506163 CA4696068 |
267 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1585273427 CA370857495 |
268 | T>A | No |
ClinGen Ensembl |
|
|
rs200615501 CA4696070 |
268 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1403994654 CA370857506 |
269 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 269 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370857513 rs1167377323 |
271 | H>Y | No |
ClinGen gnomAD |
|
|
rs938712890 CA174386224 |
276 | I>V | No |
ClinGen gnomAD |
|
|
COSM1580868 CA4696072 rs199663088 |
277 | N>S | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs145734714 CA4696073 |
280 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139633425 CA4696075 |
280 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA4696076 COSM381641 rs139633425 |
280 | R>L | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs145734714 CA4696074 |
280 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779672202 CA4696078 |
283 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA4696079 rs746513414 |
285 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1585273510 CA370857614 |
286 | N>T | No |
ClinGen Ensembl |
|
|
rs1359807596 CA370857620 |
287 | L>F | No |
ClinGen gnomAD |
|
|
CA4696080 rs768286829 |
289 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4696082 rs762247666 |
291 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4696085 rs369682689 |
295 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4696086 rs147630101 |
295 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA174386332 rs866103778 |
297 | M>I | No |
ClinGen TOPMed |
|
|
rs892795315 CA174386333 |
298 | V>L | No |
ClinGen TOPMed |
|
|
CA370857734 rs1284977260 |
299 | A>T | No |
ClinGen TOPMed |
|
|
rs1429494024 CA370857751 |
300 | Q>H | No |
ClinGen gnomAD |
|
|
CA174386336 rs1012547826 |
300 | Q>R | No |
ClinGen TOPMed |
|
|
rs1585273587 CA370857762 |
302 | T>P | No |
ClinGen Ensembl |
|
|
CA370857800 rs1166997607 |
304 | Y>C | No |
ClinGen gnomAD |
|
|
rs199831414 CA4696088 |
305 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA370857828 rs1333620859 |
306 | V>I | No |
ClinGen gnomAD |
|
|
rs757011891 CA4696091 |
307 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4696090 rs752962811 |
307 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1402580479 CA370857870 |
308 | Y>C | No |
ClinGen TOPMed |
|
|
rs758298762 CA4696094 |
310 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs750343583 CA370857916 |
310 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs750343583 CA4696093 |
310 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA4696095 rs779860461 |
311 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs768072663 CA4696097 |
312 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs201627248 CA174386429 |
314 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1440188542 CA370857987 |
314 | L>V | No |
ClinGen gnomAD |
|
|
CA4696102 rs546457214 |
316 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA4696101 rs546457214 |
316 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1187100125 CA370858061 |
317 | S>* | No |
ClinGen gnomAD |
|
|
rs749621890 CA4696103 |
318 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs997196566 CA174386455 |
318 | P>S | No |
ClinGen TOPMed |
|
|
CA370858112 rs148151365 |
320 | V>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs148151365 CA4696106 |
320 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA370858122 rs1170949958 |
321 | H>R | No |
ClinGen gnomAD |
|
|
rs767621159 CA4696107 |
323 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA174386489 rs951578170 |
323 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA370858133 rs1338679874 |
323 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1295143450 CA370858141 |
324 | S>A | No |
ClinGen gnomAD |
|
|
CA4696108 rs377597959 |
327 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760941689 CA4696109 |
328 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA370858174 rs764313100 |
329 | M>L | No |
ClinGen ExAC |
|
|
rs764313100 CA4696110 |
329 | M>V | No |
ClinGen ExAC |
|
|
rs1342323636 CA370858188 |
330 | E>D | No |
ClinGen gnomAD |
|
|
rs370139356 CA4696111 |
331 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1563215189 CA370858208 |
334 | Q>* | No |
ClinGen Ensembl |
|
|
CA370858215 rs1464857245 |
335 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs766289557 CA4696114 |
336 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4696115 rs754509210 |
336 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA4696116 rs754509210 |
336 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs766289557 RCV001327093 CA4696113 |
336 | P>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 338 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4696118 rs755764576 |
339 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4696121 rs771253127 |
343 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370858275 rs1456641687 |
344 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs774887216 CA4696122 |
345 | F>S | No |
ClinGen ExAC gnomAD |
|
|
RCV001342632 rs1801170252 |
347 | G>D | No |
ClinVar dbSNP |
|
|
rs746425652 CA370858298 |
348 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs746425652 CA4696123 |
348 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA370858329 rs1283380200 |
352 | S>C | No |
ClinGen gnomAD |
|
|
rs975388869 CA174386703 |
352 | S>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 354 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA174386719 rs921246109 |
355 | S>P | No |
ClinGen TOPMed |
|
|
rs1263005518 CA370858346 |
355 | S>Y | No |
ClinGen gnomAD |
|
|
CA174386725 rs771685665 |
356 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA4696128 rs764259950 |
358 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370858378 rs373238234 |
360 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4696129 rs373238234 |
360 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4696131 COSM1580869 rs766155544 |
361 | R>C | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs751502852 CA4696132 |
361 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA4696134 rs767568293 |
362 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA4696133 rs754905066 |
362 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs373894936 CA370858397 |
363 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1098919 CA4696137 rs777463050 |
364 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4696139 rs757634700 CA370858427 |
367 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748931118 CA370858425 |
367 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748931118 CA4696138 |
367 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746252946 CA4696141 |
369 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA370858442 rs768771123 |
370 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs768771123 CA4696145 |
370 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs780570723 CA4696143 |
370 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780570723 CA4696144 |
370 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1623900 CA4696147 rs762001581 |
373 | A>T | Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs201263762 CA4696149 |
374 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4696150 rs759439923 |
375 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752733986 CA4696152 |
376 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1585274074 CA370858477 |
376 | D>N | No |
ClinGen Ensembl |
|
|
CA4696153 rs760233822 |
377 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4696155 rs138851422 |
378 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756798475 CA4696156 |
378 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs138851422 CA4696154 RCV000910765 |
378 | R>W | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1422058839 CA370858504 |
380 | I>T | No |
ClinGen TOPMed |
|
|
CA370858502 rs1383224381 |
380 | I>V | No |
ClinGen gnomAD |
|
|
rs1426303859 CA370858507 |
381 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA370858528 rs1369522088 |
384 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs201602008 CA4696157 |
385 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370858537 rs1193981138 |
386 | V>M | No |
ClinGen gnomAD |
|
|
rs975648533 CA174386937 |
388 | D>V | No |
ClinGen TOPMed |
|
|
rs963017146 CA174386935 |
388 | D>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 389 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1218568517 CA370858570 |
390 | K>M | No |
ClinGen TOPMed |
|
|
rs141972611 CA4696159 |
393 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370858596 rs1385495457 |
394 | V>F | No |
ClinGen gnomAD |
|
|
CA370858599 rs1247127724 |
394 | V>G | No |
ClinGen gnomAD |
|
| TCGA novel | 396 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370858628 rs1251970107 |
399 | T>A | No |
ClinGen gnomAD |
|
|
CA4696162 rs768769383 |
399 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1199861799 CA370858634 |
400 | C>G | No |
ClinGen gnomAD |
|
|
CA370858651 rs1585274234 |
402 | N>T | No |
ClinGen Ensembl |
|
|
rs148929161 CA4696164 |
404 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4696163 rs781076940 |
404 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA370858675 rs1585274245 |
405 | K>N | No |
ClinGen Ensembl |
|
|
CA370858681 rs1184009176 |
406 | P>L | No |
ClinGen gnomAD |
|
|
rs769868391 CA4696165 |
407 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs986884973 CA174386984 |
407 | S>N | No |
ClinGen TOPMed |
|
|
rs759387007 CA4696168 |
409 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
CA4696170 rs200790727 |
411 | E>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs760750667 CA4696171 |
411 | E>A | No |
ClinGen ExAC |
|
|
CA174387004 rs200790727 |
411 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 412 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4696172 rs764102321 |
413 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA370858878 rs1408976900 |
414 | L>P | No |
ClinGen gnomAD |
|
|
rs901603547 CA370858921 |
417 | E>* | No |
ClinGen TOPMed |
|
|
CA174387023 rs901603547 |
417 | E>K | No |
ClinGen TOPMed |
|
|
CA370858922 rs1402182156 |
417 | E>V | No |
ClinGen TOPMed |
|
|
rs138130005 CA4696173 |
418 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 419 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs149335819 CA174387036 |
419 | E>G | No |
ClinGen ESP |
|
|
rs761416593 CA4696174 |
420 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1360225251 CA370858979 |
421 | R>C | No |
ClinGen gnomAD |
|
|
rs1216614157 CA370858982 |
421 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs764747359 CA4696175 |
425 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA370859082 rs1462617779 |
429 | T>A | No |
ClinGen gnomAD |
|
|
CA370859121 rs1484770197 |
431 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs751936147 CA4696179 |
432 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1432191459 COSM422160 CA370859152 |
433 | I>M | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs781738276 CA4696181 |
434 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs374697398 CA4696180 COSM1098921 |
434 | I>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA370859166 rs1585274415 |
435 | T>P | No |
ClinGen Ensembl |
|
| TCGA novel | 436 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368469541 CA4696183 |
437 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 438 | D>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4696185 rs552465189 |
439 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA370859224 rs1262209802 |
439 | P>R | No |
ClinGen TOPMed |
|
|
CA4696186 rs540181609 |
440 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4696187 rs775364911 |
440 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775364911 CA370859234 |
440 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145207874 CA174387115 COSM1699923 |
444 | S>F | skin [Cosmic] | No |
ClinGen cosmic curated ESP TOPMed |
| TCGA novel | 445 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768434667 CA4696189 |
446 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs764976862 CA4696190 |
447 | C>Q* | No |
ClinGen ExAC |
|
|
rs776651722 CA4696191 |
448 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA4696192 rs761206555 |
450 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA370859336 rs1283443444 |
450 | R>W | No |
ClinGen gnomAD |
|
|
rs762536672 CA4696195 |
454 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA4696196 rs762536672 |
454 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA370859372 rs1270494108 |
455 | L>V | No |
ClinGen gnomAD |
|
|
rs767892861 CA4696199 |
458 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370924429 CA370859402 |
460 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4696201 rs370924429 |
460 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 461 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4696204 rs757483851 |
462 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA370859417 rs1244054871 |
463 | V>L | No |
ClinGen gnomAD |
|
|
CA4696205 rs779304414 |
466 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4696206 rs746731919 |
467 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1277807039 CA370859451 |
468 | V>A | No |
ClinGen gnomAD |
|
|
rs768542725 CA4696207 |
468 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA4696209 rs144287444 |
469 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA174387198 rs886167663 |
471 | P>A | No |
ClinGen TOPMed |
|
|
CA174387206 rs371239022 |
472 | Y>C | No |
ClinGen ESP |
|
|
rs374772131 CA4696210 |
474 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370859509 rs1219868864 |
477 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 478 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4696213 rs765968684 |
480 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370859562 rs764122764 |
481 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs764122764 CA4696214 |
481 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs767996682 CA4696217 |
482 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4696216 rs767996682 |
482 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756582203 CA4696218 |
483 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4696220 CA4696219 rs201980808 |
484 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA4696221 rs757432629 |
485 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA370859629 rs1200742299 |
487 | K>R | No |
ClinGen TOPMed |
|
|
rs1326945329 CA370859640 |
488 | P>T | No |
ClinGen gnomAD |
|
|
CA4696224 rs754724657 |
489 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs781097911 CA4696225 COSM177537 |
489 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1381829853 CA370859672 |
491 | T>N | No |
ClinGen gnomAD |
|
|
CA370859680 rs1316844249 |
492 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs769679440 CA4696227 |
493 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1270284165 CA370859767 |
499 | S>G | No |
ClinGen gnomAD |
|
|
rs1585274782 CA370859791 |
500 | L>R | No |
ClinGen Ensembl |
|
|
CA4696231 rs773872905 |
502 | D>N | No |
ClinGen ExAC TOPMed |
|
|
rs1243050973 CA370859825 |
503 | S>N | No |
ClinGen gnomAD |
|
|
CA4696232 rs759295414 |
504 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs771639784 CA4696233 |
505 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA4696234 rs200367738 |
507 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4696237 rs145382567 |
510 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4696236 rs201109508 |
510 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA4696238 rs761951214 |
512 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA370859945 rs1405303377 |
513 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1425611790 CA370859967 |
515 | L>F | No |
ClinGen TOPMed |
|
|
rs780170557 CA4696242 |
519 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs752490010 CA4696243 |
521 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs367666905 CA174387349 |
522 | T>I | No |
ClinGen ESP |
|
|
CA370860065 rs1214674621 |
523 | A>T | No |
ClinGen gnomAD |
|
|
rs1261910814 CA370860077 |
523 | A>V | No |
ClinGen gnomAD |
|
|
CA4696245 rs576797149 |
525 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs891526676 CA174387353 |
525 | S>T | No |
ClinGen Ensembl |
|
|
CA174387354 rs1011249482 |
527 | F>L | No |
ClinGen TOPMed |
|
|
rs145090231 CA174387366 |
528 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1585274926 CA370860135 |
529 | T>S | No |
ClinGen Ensembl |
|
|
rs138950489 COSM1098924 CA4696248 |
530 | V>M | endometrium Variant assessed as Somatic; 0.0005555 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA370860157 rs1475842216 |
532 | A>P | No |
ClinGen gnomAD |
|
|
rs1427220649 CA370860175 |
533 | M>T | No |
ClinGen gnomAD |
|
|
CA4696249 rs563208430 |
533 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs771711597 CA4696250 |
534 | I>M | No |
ClinGen ExAC |
|
|
CA4696252 rs775024686 |
537 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4696251 rs775024686 |
537 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769181445 CA4696253 |
537 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs769181445 CA370860229 |
537 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370860271 rs1585274978 |
540 | I>T | No |
ClinGen Ensembl |
|
| TCGA novel | 541 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1381423064 CA370860299 |
542 | A>G | No |
ClinGen gnomAD |
|
|
rs576766032 CA4696255 |
543 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA370860325 rs1375551891 |
544 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs143705855 CA370860346 |
546 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4696256 rs143705855 |
546 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA174387426 rs143705855 |
546 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs759698175 CA174387423 |
546 | R>W | No |
ClinGen gnomAD |
|
|
rs750476711 CA4696257 |
549 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA370860390 rs1350455014 |
550 | A>T | No |
ClinGen gnomAD |
|
|
VAR_061194 rs35781576 RCV000972774 CA4696259 |
550 | A>V | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1476037610 CA370860399 |
551 | A>T | No |
ClinGen Ensembl |
|
|
rs1447814532 CA370860421 |
552 | E>D | No |
ClinGen gnomAD |
|
|
rs1198887846 CA370860427 |
553 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA4696260 rs376394802 |
554 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4696261 rs755902308 |
556 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs755902308 CA370860467 |
556 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001339760 rs369743761 CA4696262 |
556 | R>H | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs369743761 CA370860472 |
556 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA174387448 rs928526657 |
557 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs753651394 CA4696263 |
559 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA4696264 rs756512091 |
560 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 560 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM184655 rs200494893 CA4696265 |
560 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs779725016 CA4696268 |
561 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs746724112 CA4696269 |
562 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1335709769 CA370860558 |
564 | D>N | No |
ClinGen gnomAD |
|
|
CA4696271 rs141817681 |
566 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA174387552 rs907521015 |
567 | M>T | No |
ClinGen TOPMed |
|
|
CA4696272 rs777077240 |
567 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA370860632 rs1190928236 |
569 | D>V | No |
ClinGen Ensembl |
|
|
rs1222105169 CA370860638 |
570 | N>T | No |
ClinGen gnomAD |
|
|
rs770287048 CA4696274 |
572 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs763058199 CA4696276 |
574 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4696275 rs773642035 |
574 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4696277 rs766439584 |
575 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774545299 CA4696279 |
577 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA174387594 rs923182549 |
580 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs753586923 CA4696282 |
582 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372319537 CA4696283 |
582 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4696284 rs372319537 |
582 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370860717 rs1293620933 |
583 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA4696286 rs530699484 |
585 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA370860739 rs1378180657 |
586 | S>L | No |
ClinGen gnomAD |
|
|
CA370860743 rs1245669019 |
587 | P>S | No |
ClinGen gnomAD |
|
|
rs1313326252 CA370860753 |
588 | R>S | No |
ClinGen gnomAD |
|
|
rs1361874130 CA370860761 |
589 | Y>* | No |
ClinGen gnomAD |
|
|
rs201439713 CA174387666 |
590 | L>R | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1474410096 CA370860770 |
591 | R>C | No |
ClinGen TOPMed |
|
|
rs376869552 CA4696287 |
591 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA370860788 rs1479689005 |
593 | F>L | No |
ClinGen gnomAD |
|
|
rs1194053576 CA370860790 |
594 | T>A | No |
ClinGen gnomAD |
|
|
CA370860793 rs754610555 |
594 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4696289 rs754610555 |
594 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1042826033 CA174387672 |
595 | L>V | No |
ClinGen Ensembl |
|
| TCGA novel | 597 | V>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781014999 CA4696290 |
598 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs748502441 CA4696291 |
601 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA4696292 rs770098386 |
602 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs773766888 CA4696293 |
602 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370860838 rs770098386 |
602 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA370860866 rs1165034943 |
605 | N>K | No |
ClinGen gnomAD |
|
|
CA174387688 rs1050016206 |
608 | P>S | No |
ClinGen TOPMed |
|
|
rs771484952 CA4696295 |
612 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4696294 rs749822351 |
612 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs200563165 CA4696296 |
613 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1801200192 RCV001337239 |
615 | P>A | No |
ClinVar dbSNP |
|
|
CA174387719 rs747753901 |
617 | T>I | No |
ClinGen TOPMed |
|
|
rs771738641 CA4696298 |
619 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs891789506 CA174387726 |
621 | P>S | No |
ClinGen TOPMed |
|
|
rs937010739 CA174387748 |
622 | V>M | No |
ClinGen Ensembl |
|
|
rs1585275477 CA370861019 |
629 | F>Y | No |
ClinGen Ensembl |
|
|
rs766423907 CA4696304 |
632 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs751064521 CA4696305 |
633 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA370861043 rs1318532355 |
633 | G>R | No |
ClinGen gnomAD |
|
|
CA4696307 rs780962047 |
635 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs756490197 CA4696309 |
637 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs777350737 CA174387776 |
637 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA4696310 rs777945396 |
639 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs746518185 CA174387790 |
640 | G>D | No |
ClinGen Ensembl |
|
|
rs1174883594 CA370861098 |
643 | A>T | No |
ClinGen gnomAD |
|
|
CA370861113 rs1449169396 |
645 | G>D | No |
ClinGen gnomAD |
|
| VAR_080762 | 646 | S>C | found in a small consanguineous family with intellectual disability; unknown pathological significance [UniProt] | No | UniProt |
|
rs1288613234 CA370861119 |
646 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4696312 rs771306625 |
648 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs368676648 CA4696313 |
648 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4696314 rs745922565 |
652 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs1278924019 CA370861160 |
652 | A>S | No |
ClinGen gnomAD |
|
|
rs1261155749 CA370861167 |
653 | A>V | No |
ClinGen gnomAD |
|
|
CA370861194 rs1260194691 |
658 | V>I | No |
ClinGen TOPMed |
|
|
CA4696318 rs768934948 |
659 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA370861200 rs1402183338 |
659 | P>T | No |
ClinGen gnomAD |
|
|
rs969877872 CA174387848 |
660 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA370861206 rs888609307 |
660 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA174387849 rs888609307 |
660 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA370861223 rs1479809719 |
662 | Q>H | No |
ClinGen gnomAD |
|
|
CA4696320 rs762837299 |
664 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs766397327 CA4696321 |
665 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1258435170 CA370861253 |
667 | M>I | No |
ClinGen TOPMed |
|
|
rs377328753 CA4696323 |
667 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4696324 rs767196464 |
670 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143717955 CA370861295 |
673 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs983765123 CA174387873 |
673 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA370861342 rs1325380340 |
680 | L>S | No |
ClinGen TOPMed |
|
|
CA174387880 rs907571889 |
685 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1402788759 CA370861388 |
687 | P>L | No |
ClinGen TOPMed |
|
|
CA4696326 rs755659488 |
688 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA4696328 rs147200782 |
691 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1018298399 CA174387926 |
693 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA370861429 rs1178796351 |
694 | V>M | No |
ClinGen TOPMed |
|
|
rs964401765 CA174387930 |
698 | S>Y | No |
ClinGen Ensembl |
|
|
rs370848949 CA4696331 |
700 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA370861487 rs1191253311 |
703 | S>T | No |
ClinGen TOPMed |
|
|
CA4696333 rs780049312 |
704 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772123718 CA4696332 |
704 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA174387964 VAR_049229 rs2269452 |
706 | L>P | No |
ClinGen UniProt Ensembl dbSNP |
|
| TCGA novel | 708 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776961296 CA4696336 |
711 | I>T | No |
ClinGen ExAC TOPMed |
|
|
CA370861549 rs1406316018 |
712 | G>D | No |
ClinGen gnomAD |
|
|
CA4696339 rs774554716 |
713 | V>I | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4696340 rs375276712 |
714 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4696341 rs759491326 |
715 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs891284415 COSM454410 CA174388070 |
716 | M>V | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA370862131 rs1425559818 |
718 | V>I | No |
ClinGen gnomAD |
|
|
rs772090228 CA4696359 |
719 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs775551682 CA4696360 |
719 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760068595 CA4696361 |
720 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1199751139 CA370862199 |
724 | S>G | No |
ClinGen gnomAD |
|
|
CA174397718 rs911782990 |
724 | S>T | No |
ClinGen Ensembl |
|
|
CA370862233 rs1242996388 |
727 | N>H | No |
ClinGen gnomAD |
|
|
rs967256071 CA174397721 |
728 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs968821948 CA174397725 |
728 | R>Q | No |
ClinGen TOPMed |
|
|
rs1189941139 CA370862278 |
730 | L>F | No |
ClinGen gnomAD |
|
|
CA4696362 rs763723333 |
731 | P>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 732 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1475186644 CA370862310 |
733 | N>D | No |
ClinGen gnomAD |
|
|
CA370862343 rs1166236661 |
736 | E>* | No |
ClinGen gnomAD |
|
|
rs776131097 CA4696363 |
736 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4696364 rs577528573 |
737 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs764873000 CA4696365 |
740 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA370862418 rs1405132831 |
743 | I>V | No |
ClinGen gnomAD |
|
|
COSM3358255 CA4696367 rs758783683 |
746 | D>N | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA370862484 rs1340727544 |
748 | H>P | No |
ClinGen gnomAD |
|
| TCGA novel | 750 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752177046 CA4696369 |
751 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA4696370 rs752177046 |
751 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA174397747 rs977249275 |
752 | D>Y | No |
ClinGen Ensembl |
|
|
rs1219830248 COSM1456505 CA370862540 |
753 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA370862570 CA4696373 rs756367170 |
755 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs748245104 CA4696372 |
755 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA4696374 rs778167577 |
757 | G>R | No |
ClinGen ExAC |
|
|
rs1465333578 CA370862613 |
759 | R>Q | No |
ClinGen TOPMed |
|
|
CA4696375 rs745640068 |
759 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA174401301 rs758450574 |
760 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 765 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA174401308 rs983734401 |
766 | D>G | No |
ClinGen Ensembl |
|
|
CA370864287 rs1431378602 |
766 | D>N | No |
ClinGen gnomAD |
|
|
CA4696398 rs768599793 |
767 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781131046 CA4696399 |
767 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781131046 CA370864309 |
767 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769361447 CA4696402 |
769 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA4696401 rs769361447 |
769 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 771 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370864376 rs1198890219 |
772 | P>R | No |
ClinGen TOPMed |
|
|
rs973242051 CA174401352 |
773 | G>S | No |
ClinGen Ensembl |
|
|
rs1554487418 CA4696405 |
774 | R>C | No |
ClinGen Ensembl |
|
|
rs774735721 CA4696407 |
774 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA4696408 rs759837681 |
775 | Y>H | No |
ClinGen ExAC |
|
|
CA4696410 rs369382883 |
777 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369382883 CA370864423 COSM184657 |
777 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1335594719 CA370864443 |
778 | W>R | No |
ClinGen gnomAD |
|
|
CA370864508 rs1220474610 |
781 | P>S | No |
ClinGen TOPMed |
|
|
CA370864564 rs1354686883 |
785 | W>R | No |
ClinGen gnomAD |
|
|
rs1563222520 CA370864580 |
786 | L>V | No |
ClinGen Ensembl |
|
|
COSM3834540 rs1585292210 CA370864617 |
788 | N>D | kidney breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
| TCGA novel | 789 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 790 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370864799 rs1351927224 |
797 | M>V | No |
ClinGen TOPMed |
|
|
rs751320973 CA4696416 |
801 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370864881 rs751320973 |
801 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA370849553 rs1159446988 |
809 | Y>F | No |
ClinGen TOPMed |
|
|
CA4696434 rs754788898 |
814 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA174358673 rs983136504 |
815 | Y>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 818 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4696435 rs767241080 |
820 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1552454 CA370849637 rs1464570972 |
822 | R>W | lung Variant assessed as Somatic; 9.239e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs756004373 CA4696437 |
824 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs756753935 CA4696440 |
829 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778619061 CA4696441 |
834 | I>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 836 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1673827 rs1037328857 CA174358702 |
842 | H>N | ovary [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1473636590 CA370849796 |
844 | T>A | No |
ClinGen gnomAD |
|
|
CA370849803 rs1253956158 |
845 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA4696446 rs769238546 |
845 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA4696447 rs777054363 |
847 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs765301641 CA4696449 |
848 | P>H | No |
ClinGen ExAC |
|
|
rs1173785722 CA370850185 COSM184661 |
854 | R>W | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs917364725 CA174363935 |
855 | W>* | No |
ClinGen Ensembl |
|
|
CA4696476 rs753685451 |
858 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA4696477 rs761592866 |
859 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA4696478 COSM1552453 rs765253435 |
864 | Q>E | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1585302883 CA370850331 |
868 | H>P | No |
ClinGen Ensembl |
|
|
rs1050156854 CA174363971 |
869 | D>A | No |
ClinGen Ensembl |
|
|
rs761340396 CA174363965 |
869 | D>H | No |
ClinGen Ensembl |
|
|
rs1241855800 CA370850372 |
871 | S>C | No |
ClinGen gnomAD |
|
|
CA370850367 rs1351076363 |
871 | S>T | No |
ClinGen gnomAD |
|
|
rs950084966 CA174363982 |
872 | H>P | No |
ClinGen TOPMed |
|
|
rs950084966 CA370850381 |
872 | H>R | No |
ClinGen TOPMed |
|
|
rs375394103 CA174363987 |
874 | H>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA370850405 rs1320560943 |
874 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA370850419 rs779822953 |
875 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs779822953 CA4696481 |
875 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs751324069 CA4696482 |
876 | R>Q | No |
ClinGen ExAC |
|
|
CA370850433 rs1489070779 |
876 | R>W | No |
ClinGen gnomAD |
|
|
CA174364038 rs1006996456 |
880 | I>L | No |
ClinGen TOPMed |
|
|
rs748576591 CA370850502 |
881 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4696485 rs748576591 |
881 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4696487 rs141463126 |
884 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA370850555 rs1204813464 |
885 | K>E | No |
ClinGen gnomAD |
|
|
CA370850570 rs1403653131 |
886 | V>L | No |
ClinGen gnomAD |
|
|
CA370850592 rs1222684554 COSM1205869 |
888 | G>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1330499395 CA370850628 |
890 | M>I | No |
ClinGen gnomAD |
|
|
CA370850621 rs1351573975 |
890 | M>L | No |
ClinGen gnomAD |
|
|
rs540296861 CA4696489 |
890 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA370850619 rs1351573975 |
890 | M>V | No |
ClinGen gnomAD |
|
|
rs1585303001 CA370850642 |
891 | P>R | No |
ClinGen Ensembl |
|
|
CA370850672 rs1374382979 |
894 | Y>F | No |
ClinGen gnomAD |
|
|
rs774539230 CA4696490 |
895 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA4696492 rs368588764 |
897 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1226149590 CA370850753 |
899 | V>A | No |
ClinGen gnomAD |
|
|
rs1226149590 CA370850751 |
899 | V>G | No |
ClinGen gnomAD |
|
|
CA370850807 rs1256631842 |
907 | R>C | No |
ClinGen gnomAD |
|
| TCGA novel | 910 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA370850826 rs1374565215 |
910 | H>R | No |
ClinGen TOPMed |
1 associated diseases with O43909
[MIM: 617425]: Immunoskeletal dysplasia with neurodevelopmental abnormalities (ISDNA)
An autosomal recessive disorder characterized by variable skeletal abnormalities and neurodevelopmental defects. Neurologic manifestations include intellectual disability and motor delay. Some patients manifest hypotonia and seizures. Skeletal features include disproportionate short stature, cervical malformations, epiphyseal and metaphyseal dysplasia, and rarely premature craniosynostosis with progressive microcephaly. Severe combined immunodeficiency with a complete absence of T cells is observed in some patients. {ECO:0000269|PubMed:28132690, ECO:0000269|PubMed:28148688}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An autosomal recessive disorder characterized by variable skeletal abnormalities and neurodevelopmental defects. Neurologic manifestations include intellectual disability and motor delay. Some patients manifest hypotonia and seizures. Skeletal features include disproportionate short stature, cervical malformations, epiphyseal and metaphyseal dysplasia, and rarely premature craniosynostosis with progressive microcephaly. Severe combined immunodeficiency with a complete absence of T cells is observed in some patients. {ECO:0000269|PubMed:28132690, ECO:0000269|PubMed:28148688}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
| Description | ||
|---|---|---|
| EC Number | 2.4.1.223 | Hexosyltransferases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity | Catalysis of the reaction: UDP-N-acetyl-D-glucosamine + beta-D-glucuronosyl-(1->3)-beta-D-galactosyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-xylosyl-proteoglycan = UDP + alpha-N-acetyl-D-glucosaminyl-(1->4)-beta-D-glucuronosyl-(1->3)-beta-D-galactosyl-(1->3)-beta-D-galactosyl-(1->4)-beta-D-xylosyl-proteoglycan. |
| glycosyltransferase activity | Catalysis of the transfer of a glycosyl group from one compound (donor) to another (acceptor). |
| metal ion binding | Binding to a metal ion. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| heparan sulfate proteoglycan biosynthetic process | The chemical reactions and pathways resulting in the formation of the heparan sulfate proteoglycan, a glycosaminoglycan with repeat unit consisting of alternating alpha-(1->4)-linked hexuronic acid and glucosamine residues; the former are a mixture of sulfated and nonsulfated D-glucuronic acid and L-iduronic acid; the L-iduronic acid is either sulfated or acetylated on its amino group as well as being sulfated on one of its hydroxyl groups; heparan sulfate chains are covalently linked to peptidyl-serine by a glycosidic attachment through the trisaccharide galactosyl-galactosyl-xylosyl to serine residues. |
| positive regulation of cell growth | Any process that activates or increases the frequency, rate, extent or direction of cell growth. |
| protein glycosylation | A protein modification process that results in the addition of a carbohydrate or carbohydrate derivative unit to a protein amino acid, e.g. the addition of glycan chains to proteins. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q16394 | EXT1 | Exostosin-1 | Homo sapiens (Human) | PR |
| Q9WVL6 | Extl3 | Exostosin-like 3 | Mus musculus (Mouse) | PR |
| Q94AA9 | XGD1 | Xylogalacturonan beta-1,3-xylosyltransferase | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LFP3 | At5g11130/At5g11120 | Probable glycosyltransferase At5g11130 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q3EAR7 | At3g42180 | Probable glycosyltransferase At3g42180 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTGYTMLRNG | GAGNGGQTCM | LRWSNRIRLT | WLSFTLFVIL | VFFPLIAHYY | LTTLDEADEA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GKRIFGPRVG | NELCEVKHVL | DLCRIRESVS | EELLQLEAKR | QELNSEIAKL | NLKIEACKKS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| IENAKQDLLQ | LKNVISQTEH | SYKELMAQNQ | PKLSLPIRLL | PEKDDAGLPP | PKATRGCRLH |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NCFDYSRCPL | TSGFPVYVYD | SDQFVFGSYL | DPLVKQAFQA | TARANVYVTE | NADIACLYVI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LVGEMQEPVV | LRPAELEKQL | YSLPHWRTDG | HNHVIINLSR | KSDTQNLLYN | VSTGRAMVAQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| STFYTVQYRP | GFDLVVSPLV | HAMSEPNFME | IPPQVPVKRK | YLFTFQGEKI | ESLRSSLQEA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| RSFEEEMEGD | PPADYDDRII | ATLKAVQDSK | LDQVLVEFTC | KNQPKPSLPT | EWALCGERED |
| 430 | 440 | 450 | 460 | 470 | 480 |
| RLELLKLSTF | ALIITPGDPR | LVISSGCATR | LFEALEVGAV | PVVLGEQVQL | PYQDMLQWNE |
| 490 | 500 | 510 | 520 | 530 | 540 |
| AALVVPKPRV | TEVHFLLRSL | SDSDLLAMRR | QGRFLWETYF | STADSIFNTV | LAMIRTRIQI |
| 550 | 560 | 570 | 580 | 590 | 600 |
| PAAPIREEAA | AEIPHRSGKA | AGTDPNMADN | GDLDLGPVET | EPPYASPRYL | RNFTLTVTDF |
| 610 | 620 | 630 | 640 | 650 | 660 |
| YRSWNCAPGP | FHLFPHTPFD | PVLPSEAKFL | GSGTGFRPIG | GGAGGSGKEF | QAALGGNVPR |
| 670 | 680 | 690 | 700 | 710 | 720 |
| EQFTVVMLTY | EREEVLMNSL | ERLNGLPYLN | KVVVVWNSPK | LPSEDLLWPD | IGVPIMVVRT |
| 730 | 740 | 750 | 760 | 770 | 780 |
| EKNSLNNRFL | PWNEIETEAI | LSIDDDAHLR | HDEIMFGFRV | WREARDRIVG | FPGRYHAWDI |
| 790 | 800 | 810 | 820 | 830 | 840 |
| PHQSWLYNSN | YSCELSMVLT | GAAFFHKYYA | YLYSYVMPQA | IRDMVDEYIN | CEDIAMNFLV |
| 850 | 860 | 870 | 880 | 890 | 900 |
| SHITRKPPIK | VTSRWTFRCP | GCPQALSHDD | SHFHERHKCI | NFFVKVYGYM | PLLYTQFRVD |
| 910 | |||||
| SVLFKTRLPH | DKTKCFKFI |