P20916
PR
Gene name |
MAG (GMA) |
Protein name |
Myelin-associated glycoprotein |
Names |
Siglec-4a |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4099 |
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 P20916
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-P20916-F1 | Predicted | AlphaFoldDB |
583 variants for P20916
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV002064757 CA9375885 rs149262142 |
5 | T>M | Hereditary spastic paraplegia 75 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs370825816 RCV000652703 RCV000521071 CA9375923 |
21 | H>Y | Hereditary spastic paraplegia 75 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA9375958 RCV000874913 rs140544202 |
77 | R>H | Hereditary spastic paraplegia 75 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000702852 CA9375975 rs186777043 |
107 | V>I | Hereditary spastic paraplegia 75 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs770788013 RCV000814586 CA405305634 |
110 | E>* | Hereditary spastic paraplegia 75 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs762045079 CA9375982 VAR_077495 |
118 | R>H | SPG75; unknown pathological significance [UniProt] | Yes |
ClinGen UniProt ExAC dbSNP gnomAD |
|
CA211166 rs2301600 VAR_076224 RCV000202409 CA405305950 |
133 | S>R | Hereditary spastic paraplegia 75 SPG75; alters proper folding; impairs N-glycosylation; retained in the endoplasmic reticulum; increased proteasome-dependent degradation [ClinVar, UniProt] | Yes |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD ClinVar UniProt dbSNP |
|
RCV000652704 CA9375992 rs113328438 |
137 | I>V | Hereditary spastic paraplegia 75 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA9376030 rs202205105 RCV001244370 |
147 | P>A | Hereditary spastic paraplegia 75 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA9376031 RCV000515817 rs144553163 RCV001084459 RCV000553995 |
151 | A>V | Hereditary spastic paraplegia Hereditary spastic paraplegia 75 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000689331 CA405308042 rs770946769 CA9376039 |
161 | V>L | Hereditary spastic paraplegia 75 [ClinVar] | Yes |
ClinGen ExAC TOPMed gnomAD ClinVar dbSNP |
|
CA9376042 RCV000578368 rs771777424 |
174 | W>* | Hereditary spastic paraplegia 75 [ClinVar] | Yes |
ClinGen ExAC ClinVar dbSNP |
|
RCV001330920 rs2066431561 |
181 | G>W | Hereditary spastic paraplegia 75 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA307754269 rs36055167 RCV000542167 |
202 | L>M | Hereditary spastic paraplegia 75 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs200984385 CA9376064 RCV000698102 |
216 | G>C | Hereditary spastic paraplegia 75 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA405309611 RCV000552698 rs1471804208 |
223 | N>S | Hereditary spastic paraplegia 75 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000795202 CA9376069 rs765954040 |
230 | G>S | Hereditary spastic paraplegia 75 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2066438141 RCV001330921 |
265 | S>R | Hereditary spastic paraplegia 75 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA405311107 RCV000792049 rs1216189764 |
300 | D>G | Hereditary spastic paraplegia 75 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000883012 CA9376115 rs76943436 |
302 | V>D | Hereditary spastic paraplegia 75 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs370453303 RCV000652702 CA405311413 |
316 | R>L | Hereditary spastic paraplegia 75 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs199764089 RCV000693722 CA9376155 |
333 | G>R | Hereditary spastic paraplegia 75 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA9376166 RCV000810562 rs778356275 |
353 | P>L | Hereditary spastic paraplegia 75 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA9376176 RCV000528804 RCV000516012 rs142375870 |
373 | S>R | Hereditary spastic paraplegia 75 Hereditary spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA9376178 RCV000819667 rs201059845 |
374 | E>K | Hereditary spastic paraplegia 75 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001254027 rs2066456693 |
376 | Q>* | Hereditary spastic paraplegia 75 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000818071 rs1456256662 CA405315617 |
422 | A>V | Hereditary spastic paraplegia 75 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000514847 RCV002524984 CA9376228 RCV002524985 rs144213585 |
425 | R>Q | Hereditary spastic paraplegia 75 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000106310 VAR_076225 CA210989 rs587777229 |
430 | C>G | Hereditary spastic paraplegia 75 SPG75; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA9376237 RCV000983853 rs146536656 |
433 | V>L | Hereditary spastic paraplegia 75 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000662089 rs760644405 CA9376243 |
442 | V>M | Hereditary spastic paraplegia 75 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA9376263 rs147583558 RCV000693304 |
465 | R>H | Hereditary spastic paraplegia 75 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001254028 rs2066519362 |
508 | R>* | Hereditary spastic paraplegia 75 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA9376323 RCV002064832 rs35237014 |
537 | R>C | Hereditary spastic paraplegia 75 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000516141 RCV000701436 rs767886169 CA9376347 |
549 | S>L | Hereditary spastic paraplegia 75 Hereditary spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000873842 rs141352771 CA9376349 |
553 | N>H | Hereditary spastic paraplegia 75 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM1257056 COSM1257055 rs201689297 RCV000996836 RCV001070888 CA9376356 |
556 | V>I | Hereditary spastic paraplegia 75 oesophagus [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000695483 CA9376410 rs201094395 |
587 | R>Q | Hereditary spastic paraplegia 75 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs116643737 RCV000873595 CA9376425 |
600 | S>L | Hereditary spastic paraplegia 75 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA9375884 rs376929746 |
2 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA307749655 rs978130778 |
3 | F>L | No |
ClinGen Ensembl |
|
|
rs149262142 CA9375886 |
5 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1234608059 COSM1712152 CA405304035 COSM1712153 |
6 | A>T | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1427551361 CA405304086 |
10 | F>L | No |
ClinGen gnomAD |
|
|
rs1176957300 CA405304115 COSM3692642 COSM3692641 |
12 | I>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA9375891 rs373580683 RCV000996835 |
12 | I>V | No |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
|
rs773576803 CA9375892 |
14 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs137856043 CA9375921 |
18 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 19 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200076895 CA307749887 |
20 | G>D | No |
ClinGen gnomAD |
|
|
rs761655490 CA9375922 |
20 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs200076895 CA405304268 |
20 | G>V | No |
ClinGen gnomAD |
|
|
rs918875166 CA307749890 |
23 | G>V | No |
ClinGen Ensembl |
|
|
CA9375924 rs754100178 |
24 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1599646996 CA405304321 |
24 | A>V | No |
ClinGen Ensembl |
|
|
CA405304349 rs1450845974 |
26 | M>I | No |
ClinGen TOPMed |
|
| TCGA novel | 28 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 28 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405304396 rs1161598197 |
29 | S>F | No |
ClinGen gnomAD |
|
|
CA307749906 rs929595537 |
30 | I>V | No |
ClinGen Ensembl |
|
| TCGA novel | 31 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9375926 rs765244771 |
31 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405304428 rs1568470036 |
32 | A>V | No |
ClinGen Ensembl |
|
|
rs752755510 CA9375927 |
34 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
| TCGA novel | 35 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9375931 rs757733728 |
38 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs201798784 CA307749935 |
39 | S>F | No |
ClinGen Ensembl |
|
|
CA405304566 rs1313624249 |
41 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA9375933 rs745533880 |
43 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745533880 CA9375934 |
43 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9375935 rs200281744 |
43 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200281744 CA405304604 |
43 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9375936 rs201061871 |
45 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 47 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9375937 rs768040433 |
48 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA405304704 rs768040433 |
48 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA307749946 rs201907391 |
49 | E>K | No |
ClinGen Ensembl |
|
|
COSM1392813 COSM1392814 rs200718920 CA9375940 |
51 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA9375939 rs761708648 COSM1214198 COSM1214199 |
51 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA405304759 rs1444682517 |
52 | P>S | No |
ClinGen gnomAD |
|
|
rs759758253 CA9375943 |
53 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM187846 rs759758253 CA9375942 COSM187847 |
53 | A>T | lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA405304797 rs1188208735 |
54 | V>A | No |
ClinGen gnomAD |
|
|
rs201620798 CA307749981 |
55 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs201620798 CA9375944 |
55 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA9375945 rs763139269 |
58 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1389823030 CA405304843 |
58 | V>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 60 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405304880 rs1335278400 |
60 | Y>D | No |
ClinGen gnomAD |
|
|
COSM1214205 rs1335278400 COSM1214204 CA405304879 |
60 | Y>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA9375946 rs199593777 |
62 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9375947 rs752139387 |
63 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1170270721 CA405304963 |
65 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs201532201 CA9375948 |
66 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs750754995 CA9375950 |
69 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1322555534 CA405305032 |
69 | Y>D | No |
ClinGen gnomAD |
|
|
CA9375951 rs370462880 |
70 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA405305063 rs1344504954 |
71 | P>A | No |
ClinGen TOPMed |
|
|
CA307750035 rs900985751 |
71 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 71 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759019774 CA9375957 |
77 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA307750081 rs140544202 |
77 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760574518 CA9375959 |
78 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA405305174 rs760574518 |
78 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA9375960 rs367865928 |
79 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA405305255 rs1370735481 |
83 | E>K | No |
ClinGen TOPMed |
|
|
rs763042714 CA9375962 |
84 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1174786034 CA405305296 |
85 | F>L | No |
ClinGen TOPMed |
|
|
CA405305322 rs1393284051 |
86 | Q>R | No |
ClinGen gnomAD |
|
|
rs1568470194 CA405305342 |
87 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1289188530 CA405305363 |
88 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
COSM386939 CA405305367 COSM386940 rs764252583 |
88 | R>H | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA9375963 rs764252583 |
88 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs544971911 CA307750096 |
90 | R>C | No |
ClinGen Ensembl |
|
|
rs201990546 COSM266879 CA9375964 COSM266878 |
90 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA405305423 rs1284919999 |
92 | L>P | No |
ClinGen gnomAD |
|
|
CA9375965 rs762417392 |
94 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768209020 CA9375966 |
95 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA405305477 rs1180400469 |
96 | G>S | No |
ClinGen TOPMed |
|
|
rs1205309923 CA405305500 |
98 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1205309923 CA405305496 |
98 | R>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 98 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1342372968 CA405305501 |
98 | R>Q | No |
ClinGen gnomAD |
|
|
CA405305530 rs1267580404 |
100 | C>* | No |
ClinGen gnomAD |
|
|
CA9375969 rs766622405 |
101 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA405305533 rs1599647271 |
101 | T>P | No |
ClinGen Ensembl |
|
|
rs766622405 CA405305540 |
101 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs199902853 CA307750140 |
103 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA405305571 rs201136056 |
105 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs201136056 CA307750145 |
105 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA9375974 rs757890653 |
106 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746889149 CA9375976 |
109 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1599647313 CA405305647 |
110 | E>D | No |
ClinGen Ensembl |
|
|
CA9375977 rs770788013 |
110 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1411815383 CA405305651 |
111 | L>V | No |
ClinGen TOPMed |
|
|
CA9375978 rs776235740 |
112 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs540231392 CA307750173 |
113 | G>R | No |
ClinGen 1000Genomes |
|
|
rs1309130656 CA405305691 |
114 | K>N | No |
ClinGen gnomAD |
|
|
rs1293320946 CA405305682 |
114 | K>Q | No |
ClinGen gnomAD |
|
|
rs768936140 CA307750176 |
116 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs768936140 CA9375980 |
116 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs768936140 CA405305712 |
116 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs560572512 CA405305728 |
117 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1224235367 CA405305733 |
118 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs762045079 CA405305735 |
118 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA9375983 rs767685292 |
120 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1186352704 CA405305755 |
120 | D>Y | No |
ClinGen gnomAD |
|
|
CA405305780 rs1169791296 |
121 | L>P | No |
ClinGen gnomAD |
|
|
rs766788435 CA9375986 |
123 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405305840 rs1266208901 |
126 | Q>R | No |
ClinGen TOPMed |
|
|
CA9375987 rs149787869 |
128 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA405305873 rs1286857109 |
129 | F>I | No |
ClinGen gnomAD |
|
|
rs1363819458 CA405305892 |
130 | S>T | No |
ClinGen gnomAD |
|
|
rs1435649303 CA405305938 |
132 | H>Q | No |
ClinGen gnomAD |
|
|
rs375739959 CA9375988 |
133 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200067718 CA9375991 |
134 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA9375990 rs752322732 |
134 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA9375993 rs746986956 |
137 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs781042421 CA9375996 |
138 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9375995 rs781042421 |
138 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1221421698 CA405307461 |
139 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1355587890 CA405307474 |
140 | T>N | No |
ClinGen TOPMed |
|
|
CA9376027 rs762596801 |
142 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA405307573 rs1437282731 |
143 | I>M | No |
ClinGen gnomAD |
|
|
CA9376028 CA307754123 rs763718467 |
144 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9376029 rs751214414 |
146 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA405307686 rs1291080291 |
147 | P>R | No |
ClinGen TOPMed |
|
|
rs902119633 CA307754128 |
148 | E>Q | No |
ClinGen TOPMed |
|
|
rs1368238991 CA405307741 |
149 | V>L | No |
ClinGen TOPMed |
|
|
rs750420112 CA9376032 |
152 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA9376035 rs571568846 COSM994933 COSM994932 |
156 | E>D | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA307754143 rs199813139 |
158 | S>G | No |
ClinGen Ensembl |
|
|
CA9376038 rs747221865 |
160 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1329704860 CA405308027 |
160 | M>T | No |
ClinGen gnomAD |
|
|
CA9376037 rs777904556 |
160 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1339247833 CA405308066 |
162 | P>L | No |
ClinGen gnomAD |
|
|
CA405308143 rs1276782370 |
165 | C>R | No |
ClinGen gnomAD |
|
|
CA405308187 rs1342982783 |
166 | P>L | No |
ClinGen gnomAD |
|
|
rs1267124315 CA405308202 |
167 | E>Q | No |
ClinGen gnomAD |
|
|
CA405308266 rs200431991 |
169 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs201415296 CA9376041 |
169 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201415296 CA307754179 |
169 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA307754170 rs200431991 |
169 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA405308276 rs1568471989 |
170 | P>A | No |
ClinGen Ensembl |
|
|
CA9376043 rs200640485 |
171 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 171 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs199606240 CA307754190 |
171 | E>K | No |
ClinGen Ensembl |
|
|
CA405308372 rs1190447080 |
173 | S>G | No |
ClinGen gnomAD |
|
|
rs775968537 CA9376044 |
173 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA307754192 rs886516251 CA405308498 |
177 | H>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA405308506 rs1161247539 |
178 | E>K | No |
ClinGen gnomAD |
|
|
COSM565452 CA9376045 COSM565451 rs749714160 |
179 | G>E | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs749714160 CA405308561 |
179 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs773919803 CA9376047 |
181 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA405308638 rs773919803 |
181 | G>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 182 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1326215359 CA405308642 |
182 | E>K | No |
ClinGen gnomAD |
|
|
rs1234866274 CA405308697 |
183 | P>L | No |
ClinGen TOPMed |
|
|
CA9376048 rs761490297 |
184 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA405308737 rs1599650491 |
185 | V>E | No |
ClinGen Ensembl |
|
|
rs766960260 CA9376049 |
186 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 188 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1245393323 CA405308789 |
188 | R>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 188 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9376051 rs760694257 |
190 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1427459481 CA405308812 |
190 | R>W | No |
ClinGen gnomAD |
|
|
CA9376052 rs766492478 |
193 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9376053 rs753804055 |
194 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 195 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1599650521 CA405308964 |
195 | T>I | No |
ClinGen Ensembl |
|
|
CA9376054 rs754767638 |
196 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs199740322 CA307754250 |
199 | V>L | No |
ClinGen gnomAD |
|
|
CA405309092 rs1383243533 |
201 | L>V | No |
ClinGen TOPMed |
|
|
rs11084810 CA9376057 VAR_059399 |
202 | L>M | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs746011683 CA9376059 |
203 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1157651065 CA405309202 |
205 | V>M | No |
ClinGen gnomAD |
|
|
CA307754288 rs1014401588 |
207 | T>A | No |
ClinGen gnomAD |
|
|
rs756170185 CA9376060 |
207 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs867506906 CA307754320 |
208 | R>M | No |
ClinGen Ensembl |
|
|
CA405309331 rs780589571 |
210 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9376061 rs780589571 |
210 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1342354010 CA405309337 |
211 | N>H | No |
ClinGen gnomAD |
|
|
CA307754336 rs995084852 |
212 | G>S | No |
ClinGen TOPMed |
|
|
CA405309501 rs1257110549 |
217 | C>R | No |
ClinGen TOPMed |
|
|
CA307754346 rs201508876 |
218 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs201508876 CA405309538 |
218 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA405309546 rs1460786365 |
218 | Q>R | No |
ClinGen gnomAD |
|
|
CA405309602 rs1361748514 |
223 | N>H | No |
ClinGen gnomAD |
|
|
rs771689088 CA9376066 |
225 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs771689088 CA405309634 |
225 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1231834708 CA405309689 |
227 | Q>R | No |
ClinGen TOPMed |
|
|
rs202166521 CA9376068 |
229 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9376070 rs776739339 |
231 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1348797051 CA405309830 |
233 | S>R | No |
ClinGen gnomAD |
|
|
CA405309820 rs1330992733 |
233 | S>T | No |
ClinGen TOPMed |
|
|
rs1288704409 CA405309852 |
234 | M>I | No |
ClinGen gnomAD |
|
|
CA307754361 rs986211415 |
234 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA405309834 rs986211415 |
234 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA307754363 rs373129536 |
236 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9376071 rs373129536 |
236 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA307754367 rs978485635 |
237 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs779150343 CA307754552 |
239 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1271805501 CA405309985 |
239 | P>R | No |
ClinGen gnomAD |
|
|
CA9376085 rs779150343 |
239 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405310001 rs1343744680 |
241 | V>M | No |
ClinGen gnomAD |
|
|
CA9376087 rs202030552 |
242 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs746618048 CA9376089 |
243 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1266855593 CA405310078 |
244 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1442386509 CA405310084 |
245 | M>L | No |
ClinGen TOPMed |
|
|
CA307754563 rs978455925 |
246 | N>D | No |
ClinGen TOPMed |
|
|
rs1269918420 CA405310118 |
246 | N>S | No |
ClinGen gnomAD |
|
|
CA405310166 rs1434220762 |
248 | S>W | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 253 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9376092 rs759392207 |
254 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA307754581 rs963801002 |
254 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs775274302 CA9376094 |
255 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1368072149 CA405310324 |
257 | V>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 258 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750677900 CA9376097 |
258 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs760841895 CA9376098 |
258 | S>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA405310388 rs1228578877 |
260 | L>F | No |
ClinGen gnomAD |
|
|
rs1223358569 CA405310494 |
264 | D>E | No |
ClinGen gnomAD |
|
|
rs766463945 CA9376099 |
264 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA307754613 rs1029256617 |
266 | N>T | No |
ClinGen Ensembl |
|
| TCGA novel | 267 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA307754617 rs555064590 |
267 | P>S | No |
ClinGen Ensembl |
|
|
rs895878648 CA307754618 |
268 | P>L | No |
ClinGen Ensembl |
|
|
CA405310591 COSM1214201 rs1256865687 COSM1214202 |
269 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA307754620 rs199770269 |
269 | P>S | No |
ClinGen gnomAD |
|
|
CA405310618 rs1486621939 |
272 | T>A | No |
ClinGen TOPMed |
|
|
CA405310677 rs1451391958 |
274 | M>I | No |
ClinGen gnomAD |
|
|
CA307754628 rs950093849 |
275 | R>Q | No |
ClinGen Ensembl |
|
|
CA9376101 rs148340211 |
275 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA405310696 rs1308767317 |
276 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA9376104 rs753123297 |
277 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs779534441 CA405310724 CA9376103 |
277 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA405310740 rs1223970021 |
278 | T>A | No |
ClinGen TOPMed |
|
|
CA9376107 rs778233016 |
281 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405310798 rs778233016 |
281 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9376106 rs778233016 |
281 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM712003 COSM712004 CA9376105 rs200404904 |
281 | R>W | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA405310836 rs1435734218 |
283 | A>V | No |
ClinGen gnomAD |
|
|
rs1599651229 CA405310841 |
284 | V>G | No |
ClinGen Ensembl |
|
|
rs146955682 CA9376109 |
284 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201069117 CA405310878 |
286 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1322691217 CA405310882 |
287 | S>R | No |
ClinGen gnomAD |
|
|
CA9376111 rs769162388 |
288 | L>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 291 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1185910824 CA405310957 |
291 | E>D | No |
ClinGen TOPMed |
|
|
CA405310973 rs1476187963 |
293 | E>K | No |
ClinGen TOPMed |
|
|
rs1466586000 CA405311032 |
295 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1466586000 CA405311035 |
295 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs201849322 CA405311050 |
296 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs201849322 CA9376113 |
296 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA405311068 rs199823976 |
298 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA307754700 rs199823976 |
298 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA9376114 rs768465933 |
299 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1472395711 CA405311089 |
299 | E>G | No |
ClinGen gnomAD |
|
|
CA405311081 rs1414875485 |
299 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1414875485 CA405311083 |
299 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1413947175 CA405311097 |
300 | D>N | No |
ClinGen gnomAD |
|
|
CA405311117 rs1336057539 |
301 | G>R | No |
ClinGen gnomAD |
|
|
CA405311114 rs1336057539 |
301 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 301 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1027874006 CA307754717 |
302 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1027874006 CA307754713 |
302 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs137946184 CA9376116 |
304 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1355528309 CA405311168 |
304 | A>P | No |
ClinGen TOPMed |
|
|
CA9376117 rs766654454 |
307 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA405311238 rs766654454 |
307 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs759712323 CA9376119 |
308 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs765189435 CA9376120 |
310 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA9376121 rs753268515 |
311 | Y>C | No |
ClinGen ExAC |
|
|
CA9376122 rs143400618 |
313 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150720175 CA9376124 |
314 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs202087211 CA9376123 |
314 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1599651364 CA405311381 |
315 | N>H | No |
ClinGen Ensembl |
|
|
CA9376125 rs757678890 |
316 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs370453303 CA9376126 |
316 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1472818462 CA405311427 |
317 | T>I | No |
ClinGen gnomAD |
|
|
CA405311436 rs745476534 CA405311432 |
318 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9376127 rs745476534 |
318 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755683735 CA9376128 |
319 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA405311472 rs1176066697 |
320 | L>F | No |
ClinGen gnomAD |
|
|
rs1018548950 CA307754770 |
321 | S>R | No |
ClinGen gnomAD |
|
|
rs1469036093 CA405311524 |
323 | M>L | No |
ClinGen gnomAD |
|
|
rs1599652793 CA405312494 |
326 | P>R | No |
ClinGen Ensembl |
|
|
rs151252541 CA307755692 |
326 | P>S | No |
ClinGen 1000Genomes |
|
|
rs764503992 CA307755696 |
328 | K>T | No |
ClinGen Ensembl |
|
|
CA9376153 rs746106131 |
330 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs763171002 CA9376156 |
334 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs764235698 CA9376157 |
335 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1472233234 CA405312646 |
335 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA307755728 rs202136750 |
336 | V>G | No |
ClinGen Ensembl |
|
|
rs1459404975 CA405312660 COSM347088 COSM347087 |
336 | V>L | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA405312702 rs1599652840 |
338 | V>G | No |
ClinGen Ensembl |
|
|
rs201757442 COSM1214206 COSM1214207 CA9376160 |
338 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs201757442 CA307755736 |
338 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9376161 rs750691038 |
339 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA405312730 rs1212843667 |
340 | G>E | No |
ClinGen gnomAD |
|
|
CA405312721 rs1436220637 |
340 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA307755742 rs201408915 |
341 | E>K | No |
ClinGen gnomAD |
|
|
CA405312733 rs201408915 |
341 | E>Q | No |
ClinGen gnomAD |
|
|
CA405312751 rs1444569174 |
342 | T>A | No |
ClinGen gnomAD |
|
|
CA9376162 rs199924214 |
342 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9376165 rs754523838 |
344 | S>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 347 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA307755751 rs200562997 |
350 | Q>R | No |
ClinGen Ensembl |
|
|
CA405312938 rs1432192903 |
352 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA405312975 rs1210538890 CA405312973 |
354 | D>E | No |
ClinGen gnomAD |
|
|
rs1463459128 CA405312970 |
354 | D>G | No |
ClinGen gnomAD |
|
|
CA9376168 rs758200621 |
355 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs200065400 CA307755768 |
356 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200065400 CA9376169 |
356 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746838163 CA9376170 |
358 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA307755784 rs901103923 |
359 | I>T | No |
ClinGen TOPMed |
|
| TCGA novel | 366 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA307755785 rs200988783 |
367 | S>F | No |
ClinGen Ensembl |
|
|
COSM1559536 COSM42834 CA9376171 rs144554089 |
368 | T>M | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA307755786 rs202193702 |
368 | T>P | No |
ClinGen gnomAD |
|
|
rs768876800 CA9376175 |
372 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA9376174 rs768876800 |
372 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA307755808 rs543918137 |
376 | Q>H | No |
ClinGen TOPMed |
|
|
CA405313378 rs1287436607 |
378 | E>Q | No |
ClinGen gnomAD |
|
|
rs1555763987 RCV000523472 CA405313396 |
379 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs369453547 CA9376182 |
380 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9376183 rs369453547 |
380 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201899456 CA9376181 |
380 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405313433 rs1312619497 |
382 | V>A | No |
ClinGen gnomAD |
|
|
rs751480059 CA9376188 |
382 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751480059 CA9376187 |
382 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9376190 rs372192843 |
385 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA405313506 rs1251513325 |
386 | D>E | No |
ClinGen gnomAD |
|
|
rs1480468631 CA405313488 |
386 | D>N | No |
ClinGen TOPMed |
|
|
CA405313502 rs1270292088 |
386 | D>V | No |
ClinGen TOPMed |
|
|
rs1161992852 CA405313530 |
388 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs34074779 CA307755833 |
389 | E>* | No |
ClinGen Ensembl |
|
|
CA9376192 rs779277420 |
390 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA405313582 rs1465986071 |
391 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1170857301 CA405313608 |
393 | V>M | No |
ClinGen gnomAD |
|
|
rs1307703664 CA405313792 |
403 | T>I | No |
ClinGen gnomAD |
|
|
CA405313781 rs1599653065 |
403 | T>P | No |
ClinGen Ensembl |
|
|
rs1411495934 CA405313801 |
404 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs983884944 CA307755849 |
406 | N>H | No |
ClinGen TOPMed |
|
|
rs1287758842 CA405314327 |
411 | F>L | No |
ClinGen TOPMed |
|
|
rs1287758842 CA405314329 |
411 | F>V | No |
ClinGen TOPMed |
|
|
CA9376217 rs746275867 |
412 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1208575137 CA405315490 |
412 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs746275867 CA9376218 |
412 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9376221 rs763523619 |
416 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9376223 rs761405750 |
419 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs767621691 CA9376224 COSM1214209 COSM1214208 |
422 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA9376225 rs750364593 |
423 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs756018223 CA9376226 |
423 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1434326122 CA405315628 |
424 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1366805488 CA405315637 |
425 | R>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA405315645 rs1168928416 |
426 | D>G | No |
ClinGen TOPMed |
|
|
rs201021820 CA9376230 |
427 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs781690943 CA9376233 |
428 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs370148023 CA9376232 |
428 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA405315659 rs1208673763 |
429 | Q>E | No |
ClinGen gnomAD |
|
|
CA9376234 rs373284746 |
429 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1486911093 CA405315674 |
430 | C>S | No |
ClinGen gnomAD |
|
| TCGA novel | 430 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9376235 rs199969989 |
431 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9376238 rs146536656 |
433 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA405315722 rs1156910860 |
435 | K>R | No |
ClinGen gnomAD |
|
|
CA405315731 rs1599658691 |
436 | S>P | No |
ClinGen Ensembl |
|
| TCGA novel | 436 | S>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405315743 rs1599658705 |
437 | N>T | No |
ClinGen Ensembl |
|
|
CA405315755 rs1317381575 |
438 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs767104726 CA9376241 |
439 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1276359720 CA405315777 |
440 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1223799797 CA405315782 |
441 | S>T | No |
ClinGen TOPMed |
|
|
CA405315800 rs370719292 |
443 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370719292 CA9376244 |
443 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 444 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405315820 rs1411127415 |
445 | E>Q | No |
ClinGen TOPMed |
|
|
rs201766617 CA307758459 |
448 | S>L | No |
ClinGen TOPMed |
|
|
CA9376246 rs775781854 |
449 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9376247 rs764422265 |
449 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs764422265 CA405315861 |
449 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751745828 CA9376248 |
451 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA9376252 COSM1257053 rs756544453 COSM1257054 |
453 | V>M | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA307758467 rs570817960 |
455 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1568476499 CA405315930 |
456 | S>G | No |
ClinGen Ensembl |
|
| TCGA novel | 457 | E>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201311667 CA9376255 |
458 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1473622223 CA405315968 |
459 | E>G | No |
ClinGen TOPMed |
|
|
rs774534161 CA307758478 |
461 | V>L | No |
ClinGen Ensembl |
|
|
CA9376257 rs747766521 |
462 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9376259 rs772793860 |
463 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs200434392 CA9376260 |
463 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1376077841 CA405316039 |
466 | S>G | No |
ClinGen gnomAD |
|
|
CA9376265 rs199807515 |
466 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764896650 CA9376264 |
466 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA405316049 rs1277978744 |
467 | G>R | No |
ClinGen gnomAD |
|
|
CA405316048 rs1277978744 |
467 | G>S | No |
ClinGen gnomAD |
|
|
rs200754835 CA405316066 CA9376267 |
469 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA307758522 rs200754835 |
469 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1339221994 CA405316102 |
472 | S>R | No |
ClinGen TOPMed |
|
|
rs1482860502 CA405316108 |
473 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA405316107 rs1482860502 |
473 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs750566203 CA9376268 |
474 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs756136921 COSM1392822 CA9376269 COSM1392821 |
475 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs756136921 CA405316133 |
475 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 476 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754268990 CA9376272 |
477 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs754268990 CA9376271 COSM352737 COSM352736 |
477 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs780660604 CA9376270 |
477 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs747819395 CA9376274 |
478 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs779375781 CA9376273 |
478 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1414006569 CA405316170 |
480 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs199610108 CA307758571 |
481 | Q>H | No |
ClinGen gnomAD |
|
|
rs1443525877 CA405316188 |
482 | A>T | No |
ClinGen gnomAD |
|
|
CA9376276 rs777551595 |
484 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs531785357 CA9376277 |
485 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA405316257 COSM994938 rs1304260702 COSM994939 |
485 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA9376279 rs776657716 |
486 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs142036180 COSM1392823 COSM1392824 CA9376278 |
486 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs142036180 CA405316258 |
486 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA307758593 rs200588554 |
487 | I>M | No |
ClinGen TOPMed |
|
|
rs1438222836 CA405316273 |
487 | I>N | No |
ClinGen gnomAD |
|
|
rs769644135 CA9376281 |
488 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA9376285 rs199695606 |
490 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM2153588 rs202083530 COSM2153589 CA9376283 |
490 | A>T | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs199695606 CA9376284 |
490 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405316358 rs1447263920 |
493 | L>R | No |
ClinGen gnomAD |
|
|
CA9376287 rs766329436 |
495 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs200816972 CA9376289 |
496 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9376290 rs200816972 |
496 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1317794739 CA405316402 |
496 | A>V | No |
ClinGen TOPMed |
|
|
rs1392838145 CA405316431 |
498 | S>I | No |
ClinGen gnomAD |
|
|
rs1326605879 CA405316467 |
500 | E>A | No |
ClinGen gnomAD |
|
|
rs1443796780 CA405316459 |
500 | E>K | No |
ClinGen gnomAD |
|
|
rs1443796780 CA405316462 |
500 | E>Q | No |
ClinGen gnomAD |
|
|
CA9376291 rs753181930 |
504 | Q>H | No |
ClinGen ExAC |
|
|
CA405316546 rs1453977365 |
506 | A>D | No |
ClinGen TOPMed |
|
|
rs758810712 CA9376292 |
507 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405316551 rs758810712 |
507 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405316614 rs1599659285 |
508 | R>Q | No |
ClinGen Ensembl |
|
|
CA307758762 rs983008757 |
509 | L>R | No |
ClinGen TOPMed |
|
|
COSM171355 COSM171356 CA405316650 rs1348780238 |
510 | M>I | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs199748603 CA9376309 |
514 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA9376311 rs751237118 |
516 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1490086016 CA405316734 |
516 | P>S | No |
ClinGen gnomAD |
|
|
rs756792757 CA9376312 |
518 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs201344002 CA307758772 |
519 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 520 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375849472 CA9376315 |
520 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA405316805 rs200859403 |
521 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1172617 COSM1172616 rs200859403 CA9376316 |
521 | V>G | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA405316790 rs1189251601 |
521 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA405316810 rs1160330348 |
522 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA9376318 rs768463699 |
524 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1568476847 CA405316878 |
525 | I>M | No |
ClinGen Ensembl |
|
|
rs1256080150 CA405316893 |
527 | I>V | No |
ClinGen TOPMed |
|
|
CA9376319 rs201518817 |
530 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1333867946 CA405316959 |
532 | Y>D | No |
ClinGen TOPMed gnomAD |
|
|
rs771128534 CA9376321 |
534 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA9376322 rs776901974 |
535 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1343726147 CA405317027 |
536 | T>A | No |
ClinGen gnomAD |
|
|
rs769951488 CA9376324 |
537 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA9376325 rs776158188 |
538 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA405317050 rs1361835121 |
538 | R>W | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 540 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405317670 rs1391320834 |
540 | K>N | No |
ClinGen gnomAD |
|
|
rs774899106 CA9376345 |
541 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA405317686 rs1371127496 |
541 | N>S | No |
ClinGen gnomAD |
|
|
rs1403818154 CA405317724 |
543 | T>S | No |
ClinGen TOPMed |
|
|
CA405317806 rs1301913833 |
546 | P>L | No |
ClinGen TOPMed |
|
|
rs1389837167 CA405317811 |
547 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA405317814 rs1438657771 |
547 | S>R | No |
ClinGen gnomAD |
|
|
rs1433859564 CA405317865 |
551 | G>R | No |
ClinGen gnomAD |
|
|
rs923385283 CA307759525 |
552 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA9376350 rs765882707 |
553 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs753417077 CA9376351 |
554 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA405317937 rs778767820 |
555 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9376353 rs778767820 |
555 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754474189 CA9376352 |
555 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs746089622 CA9376357 |
558 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1037307601 CA307759543 |
559 | S>N | No |
ClinGen TOPMed |
|
|
rs199885984 CA307759544 |
560 | S>I | No |
ClinGen TOPMed |
|
|
COSM140833 rs201165241 CA307759549 |
561 | D>N | Variant assessed as Somatic; 9.334e-05 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA9376359 rs1555765521 |
562 | F>C | No |
ClinGen Ensembl |
|
|
CA9376361 rs780410053 |
563 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM187854 rs138056630 COSM187855 CA9376362 |
563 | R>H | Variant assessed as Somatic; 0.0 impact. pancreas large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 564 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405318160 rs1404983476 |
564 | I>N | No |
ClinGen TOPMed |
|
|
rs944096745 CA307759552 |
565 | S>A | No |
ClinGen gnomAD |
|
|
rs1394570258 CA405318202 |
567 | A>T | No |
ClinGen gnomAD |
|
|
CA405318289 rs1286617721 |
572 | E>K | No |
ClinGen gnomAD |
|
|
CA405330715 rs1168790164 |
573 | S>G | No |
ClinGen gnomAD |
|
|
rs1325276801 CA405330725 |
574 | E>G | No |
ClinGen gnomAD |
|
|
rs781467528 CA9376405 COSM1214210 |
574 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA9376406 rs746210996 |
575 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1443376197 CA405330736 |
576 | R>C | No |
ClinGen gnomAD |
|
|
rs199895557 CA9376407 COSM1214203 |
576 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA405330765 rs1338998578 |
581 | R>G | No |
ClinGen gnomAD |
|
|
rs200567001 CA9376408 |
582 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200567001 CA405330774 |
582 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1249133155 CA405330778 |
583 | L>M | No |
ClinGen gnomAD |
|
|
CA405330788 rs1250559239 |
585 | G>S | No |
ClinGen gnomAD |
|
|
rs1469471557 CA405330795 |
586 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
COSM994944 CA307714346 rs1032956121 |
587 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1474223993 CA405330805 |
588 | G>D | No |
ClinGen gnomAD |
|
|
rs985097530 CA307714353 COSM1712158 |
588 | G>S | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs774452930 CA9376412 |
590 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405330816 rs774452930 |
590 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9376411 rs774452930 |
590 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9376415 rs760377300 |
591 | P>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 591 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758540666 CA9376418 |
593 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9376417 rs752836680 |
593 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs200067189 CA9376420 |
594 | D>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs777768719 CA9376419 |
594 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 596 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA405330858 rs975799137 |
597 | Y>C | No |
ClinGen TOPMed |
|
|
CA307714389 rs975799137 |
597 | Y>S | No |
ClinGen TOPMed |
|
|
rs781652816 CA9376422 |
598 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs781652816 CA405330863 |
598 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA9376423 rs370759759 |
599 | H>P | No |
ClinGen ESP ExAC TOPMed |
|
|
CA405330878 rs116643737 |
600 | S>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA405330890 rs1336871328 |
602 | L>P | No |
ClinGen gnomAD |
|
|
rs768294860 CA9376427 |
603 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA9376429 rs199868106 |
605 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9376428 rs73031735 |
605 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA307714410 rs370295577 |
607 | T>N | No |
ClinGen ESP TOPMed |
|
|
CA9376432 rs760560412 |
611 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9376431 rs376265373 |
611 | Y>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9376433 rs766051630 |
612 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs201203320 CA9376435 |
612 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201203320 CA9376434 |
612 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs201203320 CA405330951 |
612 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757304009 CA9376438 |
614 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9376441 rs756522860 |
617 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368498070 CA9376440 |
617 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9376442 rs573146433 |
619 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1055055028 CA307714452 |
620 | Y>C | No |
ClinGen gnomAD |
|
|
CA307714463 rs778697016 |
624 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9376445 COSM1214200 rs778697016 |
624 | R>Q | Variant assessed as Somatic; 4.687e-05 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA9376444 rs754745762 |
624 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA405331032 rs1206518250 |
626 | K>Q | No |
ClinGen gnomAD |
1 associated diseases with P20916
[MIM: 616680]: Spastic paraplegia 75, autosomal recessive (SPG75)
A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG75 is characterized by onset in early childhood and is associated with mild to moderate cognitive impairment. {ECO:0000269|PubMed:24482476, ECO:0000269|PubMed:26179919, ECO:0000269|PubMed:27606346}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG75 is characterized by onset in early childhood and is associated with mild to moderate cognitive impairment. {ECO:0000269|PubMed:24482476, ECO:0000269|PubMed:26179919, ECO:0000269|PubMed:27606346}. Note=The disease is caused by variants affecting the gene represented in this entry.
10 regional properties for P20916
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Immunoglobulin subtype 2 | 252 - 312 | IPR003598-1 |
| domain | Immunoglobulin subtype 2 | 338 - 399 | IPR003598-2 |
| domain | Immunoglobulin subtype | 27 - 135 | IPR003599-1 |
| domain | Immunoglobulin subtype | 144 - 237 | IPR003599-2 |
| domain | Immunoglobulin subtype | 246 - 323 | IPR003599-3 |
| domain | Immunoglobulin subtype | 332 - 410 | IPR003599-4 |
| domain | Immunoglobulin-like domain | 141 - 227 | IPR007110-1 |
| domain | Immunoglobulin-like domain | 239 - 321 | IPR007110-2 |
| domain | Immunoglobulin-like domain | 329 - 408 | IPR007110-3 |
| domain | CD80-like, immunoglobulin C2-set | 142 - 222 | IPR013162 |
10 GO annotations of cellular component
| Name | Definition |
|---|---|
| compact myelin | The portion of the myelin sheath in which layers of cell membrane are tightly juxtaposed, completely excluding cytoplasm. The juxtaposed cytoplasmic surfaces form the major dense line, while the juxtaposed extracellular surfaces form the interperiod line visible in electron micrographs. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| integral component of plasma membrane | The component of the plasma 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. |
| membrane raft | Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions. |
| mesaxon | Portion of the ensheathing process (either myelin or non-myelin) where the enveloping lips of the ensheathing cell come together so that their apposed plasma membranes run parallel to each other, separated by a cleft 12 nm wide. |
| myelin sheath | An electrically insulating fatty layer that surrounds the axons of many neurons. It is an outgrowth of glial cells: Schwann cells supply the myelin for peripheral neurons while oligodendrocytes supply it to those of the central nervous system. |
| myelin sheath adaxonal region | The region of the myelin sheath nearest to the axon. |
| paranode region of axon | An axon part that is located adjacent to the nodes of Ranvier and surrounded by lateral loop portions of myelin sheath. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| Schmidt-Lanterman incisure | Regions within compact myelin in which the cytoplasmic faces of the enveloping myelin sheath are not tightly juxtaposed, and include cytoplasm from the cell responsible for making the myelin. Schmidt-Lanterman incisures occur in the compact myelin internode, while lateral loops are analogous structures found in the paranodal region adjacent to the nodes of Ranvier. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| carbohydrate binding | Binding to a carbohydrate, which includes monosaccharides, oligosaccharides and polysaccharides as well as substances derived from monosaccharides by reduction of the carbonyl group (alditols), by oxidation of one or more hydroxy groups to afford the corresponding aldehydes, ketones, or carboxylic acids, or by replacement of one or more hydroxy group(s) by a hydrogen atom. Cyclitols are generally not regarded as carbohydrates. |
| ganglioside GT1b binding | Binding to ganglioside GT1b. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
| protein kinase binding | Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. |
| sialic acid binding | Binding to a sialic acid, a N- or O- substituted derivative of neuraminic acid, a nine carbon monosaccharide. Sialic acids often occur in polysaccharides, glycoproteins, and glycolipids in animals and bacteria. |
| signaling receptor binding | Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function. |
13 GO annotations of biological process
| Name | Definition |
|---|---|
| axon regeneration | The regrowth of axons following their loss or damage. |
| cell adhesion | The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules. |
| cell-cell adhesion via plasma-membrane adhesion molecules | The attachment of one cell to another cell via adhesion molecules that are at least partially embedded in the plasma membrane. |
| cellular response to mechanical stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a mechanical stimulus. |
| central nervous system myelin formation | The process in which the wraps of cell membrane that constitute myelin are laid down around an axon by an oligodendrocyte in the central nervous system. |
| negative regulation of axon extension | Any process that stops, prevents, or reduces the frequency, rate or extent of axon outgrowth. |
| negative regulation of neuron apoptotic process | Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process in neurons. |
| negative regulation of neuron differentiation | Any process that stops, prevents, or reduces the frequency, rate or extent of neuron differentiation. |
| negative regulation of neuron projection development | Any process that decreases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). |
| positive regulation of astrocyte differentiation | Any process that activates or increases the frequency, rate or extent of astrocyte differentiation. |
| positive regulation of myelination | Any process that activates or increases the frequency, rate or extent of the formation of a myelin sheath around nerve axons. |
| substantia nigra development | The progression of the substantia nigra over time from its initial formation until its mature state. The substantia nigra is the layer of gray substance that separates the posterior parts of the cerebral peduncles (tegmentum mesencephali) from the anterior parts; it normally includes a posterior compact part with many pigmented cells (pars compacta) and an anterior reticular part whose cells contain little pigment (pars reticularis). |
| transmission of nerve impulse | The neurological system process in which a signal is transmitted through the nervous system by a combination of action potential propagation and synaptic transmission. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P20917 | Mag | Myelin-associated glycoprotein | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MIFLTALPLF | WIMISASRGG | HWGAWMPSSI | SAFEGTCVSI | PCRFDFPDEL | RPAVVHGVWY |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FNSPYPKNYP | PVVFKSRTQV | VHESFQGRSR | LLGDLGLRNC | TLLLSNVSPE | LGGKYYFRGD |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LGGYNQYTFS | EHSVLDIVNT | PNIVVPPEVV | AGTEVEVSCM | VPDNCPELRP | ELSWLGHEGL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GEPAVLGRLR | EDEGTWVQVS | LLHFVPTREA | NGHRLGCQAS | FPNTTLQFEG | YASMDVKYPP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VIVEMNSSVE | AIEGSHVSLL | CGADSNPPPL | LTWMRDGTVL | REAVAESLLL | ELEEVTPAED |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GVYACLAENA | YGQDNRTVGL | SVMYAPWKPT | VNGTMVAVEG | ETVSILCSTQ | SNPDPILTIF |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KEKQILSTVI | YESELQLELP | AVSPEDDGEY | WCVAENQYGQ | RATAFNLSVE | FAPVLLLESH |
| 430 | 440 | 450 | 460 | 470 | 480 |
| CAAARDTVQC | LCVVKSNPEP | SVAFELPSRN | VTVNESEREF | VYSERSGLVL | TSILTLRGQA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| QAPPRVICTA | RNLYGAKSLE | LPFQGAHRLM | WAKIGPVGAV | VAFAILIAIV | CYITQTRRKK |
| 550 | 560 | 570 | 580 | 590 | 600 |
| NVTESPSFSA | GDNPPVLFSS | DFRISGAPEK | YESERRLGSE | RRLLGLRGEP | PELDLSYSHS |
| 610 | 620 | ||||
| DLGKRPTKDS | YTLTEELAEY | AEIRVK |