Q9HCS5
PR
Gene name |
EPB41L4A |
Protein name |
Band 4.1-like protein 4A |
Names |
Erythrocyte membrane protein band 4.1-like 4A, Protein NBL4 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:64097 |
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 Q9HCS5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9HCS5-F1 | Predicted | AlphaFoldDB |
755 variants for Q9HCS5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000162113 CA186050 rs730882207 |
433 | S>L | Spastic paraplegia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1429975622 CA360702367 |
2 | G>C | No |
ClinGen gnomAD |
|
|
rs200648466 CA3368069 |
2 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200648466 CA360702365 |
2 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1330816732 CA360702350 |
4 | F>L | No |
ClinGen TOPMed |
|
|
rs1336121284 CA360702345 |
5 | C>F | No |
ClinGen TOPMed |
|
|
CA360702340 rs1474446883 |
6 | A>T | No |
ClinGen gnomAD |
|
|
rs1217660905 CA360702335 |
6 | A>V | No |
ClinGen gnomAD |
|
|
rs779395646 CA360702328 |
8 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 8 | P>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3368064 rs745559245 |
8 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3368065 rs745559245 |
8 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779395646 CA3368066 |
8 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3368062 rs757626176 |
9 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA3368063 rs757626176 |
9 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs544682638 CA3368060 |
10 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs752854944 CA3368058 |
12 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA3368056 rs759637047 |
13 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs759637047 CA3368057 |
13 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA125508406 rs997716630 |
13 | C>S | No |
ClinGen TOPMed |
|
|
rs199684882 CA3368053 |
14 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3368055 rs766612505 |
14 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs766612505 CA3368054 |
14 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA125508405 rs199684882 |
14 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3368051 rs768611621 |
17 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs544377230 CA125508404 |
17 | L>P | No |
ClinGen gnomAD |
|
|
CA3368047 rs745382326 |
18 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1580874635 CA360702259 |
20 | E>K | No |
ClinGen Ensembl |
|
|
CA3368046 rs780763973 |
22 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1225638235 CA360702225 |
24 | T>I | No |
ClinGen gnomAD |
|
|
CA360702222 rs1294677398 |
25 | L>F | No |
ClinGen gnomAD |
|
|
rs778239243 CA3368043 |
26 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA125508403 rs775216401 |
28 | Q>H | No |
ClinGen Ensembl |
|
|
CA3368038 rs779442573 |
30 | Q>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 30 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1580874450 CA360702185 |
31 | G>S | No |
ClinGen Ensembl |
|
|
rs753899134 CA3368035 |
33 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1307240337 CA360617206 |
36 | T>A | No |
ClinGen gnomAD |
|
|
CA3368017 rs187394282 |
36 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3368016 rs187394282 |
36 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs767723628 CA124962139 |
37 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1366662239 CA360617199 |
37 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA3368014 rs767723628 |
37 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA360617202 rs1424438290 |
37 | K>R | No |
ClinGen gnomAD |
|
|
CA3368013 rs758250391 |
38 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA360617187 rs765087368 |
40 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3368011 rs765087368 |
40 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776024376 CA360617156 |
44 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3368007 rs528031482 |
45 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA3368008 rs528031482 |
45 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA360617146 rs1198344735 |
46 | F>S | No |
ClinGen gnomAD |
|
|
CA3368006 rs773064456 |
47 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs1203373586 CA360617137 |
47 | H>Q | No |
ClinGen gnomAD |
|
|
CA3368005 rs771794033 |
47 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360617136 rs564812157 |
48 | H>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs374475208 CA360617134 |
48 | H>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3368003 rs374475208 |
48 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3368004 rs564812157 |
48 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA124962097 rs969570026 COSM448434 |
49 | V>I | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs749858546 CA3368001 |
50 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3368000 rs756256033 |
52 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756256033 CA3367999 |
52 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3367997 rs781402563 |
53 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360617104 rs781402563 |
53 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1159277106 CA360617098 |
54 | I>T | No |
ClinGen gnomAD |
|
|
CA3367996 rs546171252 |
54 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1455421289 CA360617094 |
55 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA3367995 rs752462713 |
59 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3367993 rs754706257 |
60 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA124962062 rs887214973 |
60 | R>H | No |
ClinGen gnomAD |
|
|
rs754706257 CA360617060 |
60 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360617056 rs1190935721 |
61 | Y>N | No |
ClinGen gnomAD |
|
|
rs1027205507 CA124962036 |
62 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3367991 rs766413624 |
63 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA360617038 rs1459614926 |
63 | D>V | No |
ClinGen gnomAD |
|
|
rs1281640178 CA360617035 |
64 | R>G | No |
ClinGen TOPMed |
|
|
rs995529244 CA124962023 |
64 | R>K | No |
ClinGen Ensembl |
|
|
rs772783704 CA3367989 |
65 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA3367990 rs61743735 |
65 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767311201 CA3367988 |
66 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1199275682 CA360617006 |
67 | Q>E | No |
ClinGen TOPMed |
|
|
rs184036385 CA3367986 |
67 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200620569 CA124961996 |
68 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200620569 CA3367985 COSM267850 |
68 | T>M | Variant assessed as Somatic; 0.0 impact. liver large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA360611712 rs1580599104 |
69 | Y>C | No |
ClinGen Ensembl |
|
|
CA3367964 rs763392157 |
70 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA360611663 rs763392157 |
70 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs199799127 CA3367963 |
72 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA124945107 rs267600315 |
73 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA124945106 rs866828434 |
74 | A>T | No |
ClinGen Ensembl |
|
|
CA360611552 rs1183604623 |
75 | K>E | No |
ClinGen gnomAD |
|
|
rs1580599014 CA360611512 |
76 | T>N | No |
ClinGen Ensembl |
|
|
rs759983252 CA3367961 |
77 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs777096711 CA3367960 |
78 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA360611474 rs1437582560 |
79 | E>G | No |
ClinGen gnomAD |
|
|
CA360611458 rs1185209006 |
80 | H>P | No |
ClinGen TOPMed |
|
|
CA360611455 rs1453523251 |
80 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA360611430 rs1434288941 COSM1059537 |
82 | E>* | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA124945086 rs1030305140 |
83 | L>R | No |
ClinGen TOPMed |
|
|
CA3367958 rs373479547 |
85 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772126180 CA3367956 CA360611409 |
85 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA3367957 rs373479547 |
85 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759860400 CA3367942 |
86 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1338724058 CA360610734 |
87 | G>R | No |
ClinGen TOPMed |
|
|
rs1282327469 CA360610726 |
87 | G>V | No |
ClinGen gnomAD |
|
|
CA124941331 rs1014653635 COSM226568 |
89 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA3367941 rs777261583 |
90 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360610665 rs1363878948 |
92 | L>F | No |
ClinGen TOPMed |
|
|
rs12521830 CA360610637 |
94 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs77976713 CA3367938 |
95 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs77976713 CA124941296 |
95 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1303661119 CA360610630 |
95 | G>S | No |
ClinGen gnomAD |
|
|
CA124941294 rs1056602634 |
96 | I>V | No |
ClinGen Ensembl |
|
|
rs1157667846 CA360610586 |
98 | F>L | No |
ClinGen gnomAD |
|
|
CA360610589 rs1342916542 |
98 | F>S | No |
ClinGen gnomAD |
|
|
CA360610581 rs1400791166 |
99 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1305649581 CA360610566 |
100 | A>P | No |
ClinGen TOPMed |
|
|
CA3367937 rs144670970 |
100 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs748432941 CA3367936 |
101 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1201453038 CA360610550 |
102 | D>G | No |
ClinGen TOPMed |
|
|
CA360610544 rs1243484694 |
103 | P>L | No |
ClinGen TOPMed |
|
|
rs769781822 CA360610545 |
103 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs769781822 CA3367934 |
103 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA360610539 rs1489787681 |
104 | C>G | No |
ClinGen gnomAD |
|
|
CA360610521 rs1240878842 |
106 | L>P | No |
ClinGen gnomAD |
|
|
rs1215074098 CA360610514 |
107 | K>I | No |
ClinGen gnomAD |
|
|
CA360610512 rs1447683520 |
107 | K>N | No |
ClinGen gnomAD |
|
|
CA124941269 rs778805290 |
108 | E>* | No |
ClinGen Ensembl |
|
|
rs1221963063 CA360610508 |
108 | E>G | No |
ClinGen gnomAD |
|
|
CA360610502 rs1187447277 |
109 | E>* | No |
ClinGen TOPMed |
|
|
CA124941268 rs1038201820 |
112 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs895260534 CA360607504 |
117 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1183868103 CA360607503 |
118 | Q>E | No |
ClinGen gnomAD |
|
| TCGA novel | 118 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360607495 rs767748188 |
119 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767748188 CA3367919 |
119 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA124933119 rs748314987 |
120 | K>N | No |
ClinGen Ensembl |
|
|
CA360607482 rs1205770572 |
121 | Q>E | No |
ClinGen gnomAD |
|
|
CA3367918 rs559643736 |
121 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA360607471 rs1244549994 |
122 | D>E | No |
ClinGen gnomAD |
|
|
rs774775543 CA3367917 |
122 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1340572836 CA360607469 |
123 | V>I | No |
ClinGen gnomAD |
|
|
rs1389356816 CA360607461 |
124 | L>F | No |
ClinGen gnomAD |
|
|
CA360607456 rs1371621245 |
125 | Q>* | No |
ClinGen gnomAD |
|
|
rs768944175 CA3367916 |
125 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3367915 rs745666661 |
126 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA3367914 rs185548416 |
127 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA360607436 rs185548416 |
127 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199808809 CA3367912 |
127 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs199808809 CA3367913 |
127 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1424074308 CA360607430 |
128 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA360607429 rs1424074308 |
128 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA124933090 rs940609319 |
130 | C>R | No |
ClinGen TOPMed |
|
|
CA124933086 rs920776421 |
130 | C>S | No |
ClinGen gnomAD |
|
|
CA360607404 rs920776421 |
130 | C>Y | No |
ClinGen gnomAD |
|
|
CA124933084 rs911718725 |
131 | P>R | No |
ClinGen TOPMed |
|
|
VAR_055537 CA3367908 rs34008454 |
132 | V>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs34008454 CA360607384 |
132 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1467207750 CA360607355 |
134 | T>N | No |
ClinGen TOPMed |
|
|
rs754558405 CA3367907 |
135 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs754259976 CA3367906 |
138 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA3367905 rs766703883 |
140 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360607253 rs1221717741 |
142 | A>V | No |
ClinGen gnomAD |
|
|
rs1266764521 CA360607247 |
143 | I>F | No |
ClinGen gnomAD |
|
|
rs756494807 CA3367884 |
145 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs186368402 CA3367882 |
146 | E>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA360606938 rs186368402 |
146 | E>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA360606922 rs1380552450 |
147 | L>V | No |
ClinGen gnomAD |
|
|
rs941206981 CA124932163 |
148 | G>A | No |
ClinGen Ensembl |
|
|
rs1388058884 CA360606904 |
148 | G>R | No |
ClinGen gnomAD |
|
|
CA3367880 rs751714954 |
149 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA3367881 rs751714954 |
149 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1321424611 CA360606881 |
149 | D>Y | No |
ClinGen gnomAD |
|
|
rs1403614093 CA360606841 CA360606839 |
151 | D>E | No |
ClinGen gnomAD |
|
|
CA360606845 rs1292059316 |
151 | D>G | No |
ClinGen TOPMed |
|
|
rs61738838 CA3367879 |
152 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA360606834 rs1332259782 |
152 | P>S | No |
ClinGen TOPMed |
|
|
rs1379249996 CA360606814 |
153 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA360606820 rs1478253608 |
153 | Y>D | No |
ClinGen gnomAD |
|
|
rs1379249996 CA360606812 |
153 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
rs985804793 CA124932153 |
154 | K>E | No |
ClinGen gnomAD |
|
|
CA360606755 rs1438792997 |
155 | H>L | No |
ClinGen TOPMed |
|
|
rs1427380112 CA360606770 |
155 | H>Y | No |
ClinGen gnomAD |
|
|
rs752926862 CA3367877 |
156 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs200598737 CA3367876 |
157 | A>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3367875 rs370791654 |
160 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA360606610 rs1250325689 |
162 | E>Q | No |
ClinGen TOPMed |
|
|
rs774241393 CA3367871 |
164 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761689769 CA3367872 |
164 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3367870 rs768117976 |
166 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM274982 CA360606551 rs1298492548 |
167 | P>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA3367869 rs748819816 |
168 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs976155306 CA124932101 |
169 | Q>H | No |
ClinGen Ensembl |
|
|
rs779588539 CA3367868 |
169 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769423590 CA3367867 |
172 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA360606511 rs1305890310 |
173 | L>I | No |
ClinGen TOPMed |
|
|
CA3367866 rs746253769 |
175 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs967013893 CA124932080 |
176 | A>T | No |
ClinGen TOPMed |
|
|
CA124932074 rs61743759 |
177 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3367864 rs757670464 |
177 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs549443372 CA124932066 |
177 | I>T | No |
ClinGen 1000Genomes |
|
|
RCV000956298 rs61743759 CA3367865 |
177 | I>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 178 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3367863 rs752147638 |
178 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3367862 rs778417182 |
179 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs758462512 CA3367861 |
180 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA3367860 rs752763696 |
181 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3367859 rs765379643 |
182 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1187875797 CA360606442 |
184 | L>V | No |
ClinGen gnomAD |
|
|
rs1453425260 CA360606124 |
185 | M>I | No |
ClinGen gnomAD |
|
|
rs201588170 CA124932013 |
185 | M>K | No |
ClinGen TOPMed |
|
|
rs201588170 CA124932009 |
185 | M>T | No |
ClinGen TOPMed |
|
|
CA360606121 rs1218786125 |
186 | G>C | No |
ClinGen gnomAD |
|
|
CA360606118 rs1282395324 |
186 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA124929552 CA124929545 rs1034644812 |
187 | Q>H | No |
ClinGen TOPMed |
|
|
rs755109387 CA3367823 |
188 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs1329597239 CA360605915 |
189 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs781329353 CA124929538 |
189 | P>H | No |
ClinGen TOPMed |
|
|
CA124929537 rs781329353 |
189 | P>R | No |
ClinGen TOPMed |
|
|
CA360605832 rs1309275725 |
192 | A>T | No |
ClinGen TOPMed |
|
|
rs373737054 CA124929535 |
193 | E>Q | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 201 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1230326070 CA360605524 |
202 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA360605546 rs1371719224 |
202 | S>P | No |
ClinGen TOPMed |
|
|
CA3367816 rs1230326070 |
202 | S>Y | No |
ClinGen TOPMed |
|
|
CA360605481 rs1359296138 |
204 | E>D | No |
ClinGen TOPMed |
|
|
rs1431834332 CA360605501 |
204 | E>Q | No |
ClinGen gnomAD |
|
|
CA360605463 CA124929521 rs202149026 |
205 | M>I | No |
ClinGen gnomAD |
|
|
CA3367813 rs752743212 |
205 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360605444 rs1450908104 |
206 | Y>* | No |
ClinGen gnomAD |
|
|
rs1479030342 CA360605450 |
206 | Y>F | No |
ClinGen gnomAD |
|
|
rs569030813 CA124929514 |
207 | G>S | No |
ClinGen 1000Genomes |
|
|
CA360605424 rs1561520830 |
207 | G>V | No |
ClinGen Ensembl |
|
|
rs201959084 CA360605404 |
208 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201959084 CA3367811 |
208 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760354049 CA3367809 |
209 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3367808 rs760354049 |
209 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA124929501 rs1011439193 |
209 | D>N | No |
ClinGen TOPMed |
|
|
CA360605386 rs760354049 |
209 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772716070 CA3367806 |
210 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA3367805 rs376731905 |
210 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360605359 rs376731905 |
210 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3367804 rs200939030 |
212 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3367801 rs766314158 |
213 | V>F | No |
ClinGen ExAC gnomAD |
|
|
RCV000734559 CA124929463 rs766314158 |
213 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA3367800 rs766314158 |
213 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1334312806 CA3367797 |
214 | Y>C | No |
ClinGen gnomAD |
|
|
rs1168534458 CA360604477 |
216 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA360604483 rs1369204653 |
216 | E>Q | No |
ClinGen gnomAD |
|
|
rs1168534458 CA360604475 |
216 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3367781 rs371252858 |
217 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1392177326 CA360604458 |
217 | N>K | No |
ClinGen gnomAD |
|
|
CA3367780 rs769932010 |
220 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3367779 rs745918922 CA360604430 |
220 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3367778 rs762365947 |
221 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA124927390 rs368174053 |
222 | F>L | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 222 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748004384 CA3367776 |
223 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs778801105 CA3367775 |
226 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs941997164 CA124927385 |
227 | P>A | No |
ClinGen Ensembl |
|
|
CA3367774 rs550411328 |
227 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs200204316 CA124927372 |
230 | V>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200204316 CA3367772 |
230 | V>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs372473511 CA3367771 |
232 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA360604286 rs537384572 |
233 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 233 | Y>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA124927364 rs537384572 |
233 | Y>F | No |
ClinGen gnomAD |
|
|
rs1178153879 CA360604278 |
234 | K>E | No |
ClinGen TOPMed |
|
|
CA360604257 rs1349070581 |
235 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA3367769 rs749837000 |
235 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1411039177 CA360604240 |
236 | K>Q | No |
ClinGen gnomAD |
|
|
rs1291791392 CA360604193 |
238 | Q>E | No |
ClinGen gnomAD |
|
|
CA360604133 rs1170339791 |
241 | K>T | No |
ClinGen TOPMed |
|
|
CA360604119 rs1043617645 |
242 | Y>D | No |
ClinGen TOPMed gnomAD |
|
|
CA124927359 rs1043617645 |
242 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA360604090 rs1297193050 |
243 | F>L | No |
ClinGen TOPMed |
|
|
CA124927357 rs368228825 |
243 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA |
|
CA360604041 rs1268406563 |
244 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA3367746 rs370256515 |
245 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3367744 COSM145370 rs539290653 |
246 | R>Q | large_intestine haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs756763033 CA3367745 |
246 | R>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 247 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360603979 rs1561518244 COSM1432127 |
249 | K>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1331739763 CA360603982 |
249 | K>R | No |
ClinGen gnomAD |
|
|
rs1250779238 CA360603975 |
250 | V>F | No |
ClinGen gnomAD |
|
|
CA360603965 rs1223262564 |
250 | V>G | No |
ClinGen gnomAD |
|
|
CA3367742 rs758771306 |
251 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs1452696389 CA360603949 |
251 | H>Q | No |
ClinGen TOPMed |
|
|
rs752989237 CA3367741 |
252 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765801564 CA3367740 |
253 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1321493172 CA360603926 |
253 | K>R | No |
ClinGen gnomAD |
|
|
CA360603908 rs1322703198 |
254 | E>V | No |
ClinGen gnomAD |
|
|
CA360603899 rs1283932971 |
255 | T>S | No |
ClinGen gnomAD |
|
|
CA360603893 rs1402210457 |
256 | Q>E | No |
ClinGen gnomAD |
|
|
rs1399845065 CA360603885 |
256 | Q>R | No |
ClinGen gnomAD |
|
|
CA3367738 rs777175759 |
258 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA360603830 rs760834375 |
260 | R>I | No |
ClinGen ExAC gnomAD |
|
|
CA3367736 rs760834375 |
260 | R>T | No |
ClinGen ExAC gnomAD |
|
|
TCGA novel rs1157037691 CA360603822 |
261 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen TOPMed |
|
rs968804348 CA124926965 |
262 | L>V | No |
ClinGen TOPMed |
|
|
rs1233685519 CA360603804 |
263 | G>R | No |
ClinGen gnomAD |
|
|
rs773626937 CA3367735 |
264 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360603778 rs1368823129 |
265 | D>N | No |
ClinGen gnomAD |
|
|
rs759358785 CA3367709 |
266 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3367706 rs368827957 |
268 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM201210 CA3367707 rs200997940 |
268 | E>K | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1403124816 CA360617425 |
269 | T>A | No |
ClinGen gnomAD |
|
|
rs1277949478 CA360617416 |
270 | S>L | No |
ClinGen TOPMed |
|
|
rs771551149 CA360617406 |
271 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1554083021 CA3367702 |
272 | F>L | No |
ClinGen Ensembl |
|
|
rs1392652329 CA360617393 |
273 | F>C | No |
ClinGen gnomAD |
|
|
CA360617385 rs1420558955 |
274 | E>V | No |
ClinGen gnomAD |
|
|
rs778624919 CA3367700 |
276 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs199935120 CA3367701 |
276 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs371622331 CA3367698 |
277 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs780455699 CA3367697 |
278 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360617354 rs1289391684 |
279 | T>I | No |
ClinGen gnomAD |
|
|
rs1202033440 CA360617343 |
281 | C>S | No |
ClinGen TOPMed |
|
|
rs756638930 CA3367696 |
282 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360617337 rs750942586 |
282 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750942586 CA3367695 |
282 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1385224698 CA360617329 |
283 | H>R | No |
ClinGen TOPMed |
|
|
rs761977647 CA3367693 |
285 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3367691 rs764315961 |
288 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA3367690 rs759258968 |
289 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA360617283 rs952716709 |
290 | E>K | No |
ClinGen gnomAD |
|
|
rs952716709 CA124971183 |
290 | E>Q | No |
ClinGen gnomAD |
|
|
CA3367689 rs368537223 |
293 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA360617255 rs1386012113 |
294 | F>L | No |
ClinGen gnomAD |
|
| rs1157347372 | 295 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
TCGA novel rs1453176201 CA360617238 |
296 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed NCI-TCGA |
|
CA360617235 rs1561502147 |
296 | R>K | No |
ClinGen Ensembl |
|
|
rs773192789 CA3367663 |
298 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs760461397 CA3367664 |
298 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 299 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1360901666 CA360616958 |
301 | E>V | No |
ClinGen TOPMed |
|
|
CA3367662 rs267600314 |
302 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA124970686 rs267600314 |
302 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs995600761 CA124970685 |
303 | N>T | No |
ClinGen Ensembl |
|
| TCGA novel | 304 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3367660 rs370300970 |
305 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360616929 rs1204649344 |
306 | S>* | No |
ClinGen TOPMed |
|
|
CA360616879 rs1296413382 |
313 | G>E | No |
ClinGen gnomAD |
|
|
CA360616873 rs1228765134 |
314 | S>Y | No |
ClinGen gnomAD |
|
|
rs1290934464 CA360616865 |
315 | I>M | No |
ClinGen gnomAD |
|
|
CA3367657 rs775275124 |
315 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA3367656 COSM1205404 rs202166026 |
316 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs374814626 CA3367655 |
316 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3367653 rs370599906 |
317 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA124970644 rs370599906 |
317 | Y>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3367654 rs368506789 |
317 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1431646443 CA360616846 |
319 | H>N | No |
ClinGen TOPMed |
|
|
CA3367650 rs201275993 |
320 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3367649 rs753031698 |
320 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA3367651 rs201275993 |
320 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs373267186 CA3367648 |
321 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1421921685 CA360616835 |
321 | Y>H | No |
ClinGen gnomAD |
|
|
rs1482833442 CA360616829 |
322 | S>R | No |
ClinGen gnomAD |
|
|
CA124967696 rs1053531296 |
323 | G>D | No |
ClinGen Ensembl |
|
|
rs1306943751 CA360616076 |
324 | R>K | No |
ClinGen gnomAD |
|
|
rs752210767 CA3367620 |
325 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765000251 CA3367619 |
325 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1220626401 CA360616033 |
326 | A>T | No |
ClinGen gnomAD |
|
|
rs937779067 CA124967691 |
328 | Q>R | No |
ClinGen Ensembl |
|
|
CA124967688 rs1054993891 |
330 | S>R | No |
ClinGen TOPMed |
|
|
CA3367617 rs776394562 |
331 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3367616 rs199666804 |
331 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs199666804 CA3367615 |
331 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3367614 rs773785227 |
332 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA360615889 rs1278593915 |
333 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA360615892 rs1278593915 |
333 | L>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 334 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3367613 rs772393395 |
335 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs201510682 CA124967650 |
336 | Q>R | No |
ClinGen gnomAD |
|
|
CA360615823 rs1420343900 |
337 | L>R | No |
ClinGen gnomAD |
|
|
rs748260195 CA360615816 |
338 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs748260195 CA3367612 |
338 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA3367611 rs376132286 |
339 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs376132286 CA3367610 |
339 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760586743 CA124967647 |
339 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs200139281 CA360615795 |
340 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3367609 rs200139281 |
340 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3367608 rs780125240 |
342 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA124967640 rs939642616 |
342 | Q>R | No |
ClinGen TOPMed |
|
|
rs757086255 CA3367607 |
343 | N>K | No |
ClinGen ExAC |
|
|
CA3367606 rs751243779 |
344 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 345 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3367605 rs368151776 |
348 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3367604 rs758359175 |
348 | R>Q | No |
ClinGen ExAC TOPMed |
|
|
COSM3428815 CA3367601 rs759115856 |
355 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA360615522 rs1268266280 |
355 | R>Q | No |
ClinGen TOPMed |
|
|
CA360615517 rs1328235139 |
356 | I>V | No |
ClinGen gnomAD |
|
|
rs753606350 CA3367600 |
358 | Q>E | No |
ClinGen ExAC |
|
|
rs1432593484 CA360615472 |
358 | Q>H | No |
ClinGen gnomAD |
|
|
rs929303387 CA124967586 |
362 | A>P | No |
ClinGen Ensembl |
|
|
CA3367570 rs545171180 |
364 | S>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1307281640 CA360610854 |
365 | N>H | No |
ClinGen TOPMed |
|
|
rs890757 CA124947990 |
366 | S>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs890757 CA360610843 |
366 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3367569 rs890757 |
366 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3367566 rs747897107 |
367 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs772053402 CA3367567 |
367 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360610827 rs1305601857 |
369 | R>G | No |
ClinGen gnomAD |
|
|
CA360610821 rs1408888270 |
369 | R>S | No |
ClinGen gnomAD |
|
|
rs1442914096 CA360610807 |
372 | A>T | No |
ClinGen Ensembl |
|
|
rs1169333154 CA360610798 |
373 | N>T | No |
ClinGen gnomAD |
|
|
rs778999813 CA3367564 |
374 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1476593802 CA360610792 |
374 | M>V | No |
ClinGen gnomAD |
|
|
rs779480069 CA3367561 |
377 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA3367562 rs200197988 |
377 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs758534720 CA3367560 |
378 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3367559 rs750101834 |
380 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA360610733 rs1252757811 |
381 | G>* | No |
ClinGen TOPMed |
|
|
CA3367558 rs373902824 |
381 | G>E | No |
ClinGen ESP ExAC TOPMed |
|
|
CA3367557 rs757621160 |
383 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs751878774 CA3367556 |
384 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs764605249 CA3367555 |
386 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA124947860 rs970347538 |
386 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3367554 rs370757464 |
387 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1286436648 CA360610643 |
388 | P>H | No |
ClinGen gnomAD |
|
|
CA124947820 rs375577680 |
389 | S>L | No |
ClinGen Ensembl |
|
|
rs759653036 CA3367550 |
392 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs748252537 CA360610587 |
393 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs748252537 CA124947794 |
393 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA3367526 rs765721807 |
394 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs112097937 CA124943523 |
395 | K>R | No |
ClinGen Ensembl |
|
|
CA3367525 rs200595173 |
396 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs200595173 CA3367524 |
396 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3367522 rs200538052 |
398 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3367521 rs570696917 |
399 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA360609029 rs1216945614 |
402 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1346574638 CA360609023 |
403 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA3367520 rs773538919 |
403 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA360609024 rs1346574638 |
403 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
COSM1753909 rs1362588241 CA360609009 |
405 | T>S | urinary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
COSM1753909 CA3367518 rs762748987 |
405 | T>S | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 407 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360608992 rs1561474074 |
407 | R>S | No |
ClinGen Ensembl |
|
|
rs1346286989 CA360608990 |
408 | S>G | No |
ClinGen gnomAD |
|
|
rs369134005 CA3367516 |
408 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA124943476 rs944498552 |
410 | S>C | No |
ClinGen TOPMed |
|
|
CA3367515 rs745388190 |
413 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs868831826 CA124943470 |
413 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs868831826 CA360608957 |
413 | P>T | No |
ClinGen Ensembl |
|
|
rs746727457 CA3367512 |
415 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3367511 rs777394320 |
418 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA360608921 rs1180827790 |
418 | G>S | No |
ClinGen TOPMed |
|
|
CA360608914 rs1417671391 |
419 | P>S | No |
ClinGen gnomAD |
|
|
rs188203387 CA3367510 |
421 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs145378078 CA3367493 |
422 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA3367494 rs145378078 |
422 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA360608451 rs1312291935 |
424 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA3367492 rs772860401 |
425 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA3367491 rs200074307 |
425 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs779384274 CA3367489 |
427 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA3367490 rs779384274 |
427 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA360608394 rs1479393788 |
428 | S>R | No |
ClinGen gnomAD |
|
|
rs1204846477 CA360608384 |
429 | D>G | No |
ClinGen gnomAD |
|
|
CA3367488 rs755269162 |
429 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs368831750 CA3367486 |
430 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs368831750 CA3367487 |
430 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750489592 COSM1205402 CA3367484 |
430 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA3367485 rs750489592 |
430 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs373715149 CA3367483 |
431 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA360608361 rs1219171531 |
431 | T>I | No |
ClinGen TOPMed |
|
|
RCV000969887 rs34106638 CA3367481 |
435 | K>E | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs985593685 CA360608269 |
438 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA3367479 rs374065942 |
438 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3367480 rs367552530 |
438 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360608272 rs374065942 |
438 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1373545747 CA360608266 |
439 | T>A | No |
ClinGen TOPMed |
|
|
rs201974109 CA3367478 |
439 | T>M | Variant assessed as Somatic; 4.638e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs562929678 CA124942363 |
440 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA3367474 rs531199200 |
440 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3367475 rs531199200 |
440 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs531199200 CA360608255 |
440 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs773872614 CA3367473 |
441 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs114541405 RCV000880241 CA3367472 |
441 | R>H | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs201980333 CA3367470 |
442 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs201980333 CA3367471 |
442 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1059522 rs201592124 CA3367469 |
442 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA360608189 rs1580426898 |
443 | N>T | No |
ClinGen Ensembl |
|
|
rs1446762572 CA360608193 |
443 | N>Y | No |
ClinGen TOPMed |
|
|
rs1212190600 CA360608151 |
444 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA360608153 rs1212190600 |
444 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3367468 rs371189822 |
444 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3367467 rs781369045 |
445 | S>A | No |
ClinGen ExAC |
|
|
rs1334659642 CA360608139 |
445 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs527940542 CA3367466 |
447 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA124942260 rs1012022083 CA360608062 |
448 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA360608041 rs1306298990 |
449 | D>E | No |
ClinGen gnomAD |
|
|
rs754775015 CA3367463 |
450 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1395017165 CA360607939 |
454 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 454 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs576872679 CA124942250 |
454 | Q>R | No |
ClinGen Ensembl |
|
|
CA3367459 rs750296414 |
457 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA3367458 rs767123587 |
458 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs373770147 CA3367457 |
459 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1224932707 CA360605867 |
461 | A>G | No |
ClinGen gnomAD |
|
|
CA360605883 rs1258042547 |
461 | A>T | No |
ClinGen gnomAD |
|
|
rs1339718296 CA360605857 |
462 | H>P | No |
ClinGen TOPMed |
|
|
rs930215064 CA124933543 CA124933537 |
463 | N>K | No |
ClinGen TOPMed |
|
|
rs1325710946 CA360605795 |
464 | S>T | No |
ClinGen gnomAD |
|
|
CA360605704 rs1353491704 |
467 | D>A | No |
ClinGen gnomAD |
|
|
CA360605670 rs777202416 |
469 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3367431 rs777202416 |
469 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1271878726 CA360605467 |
474 | R>K | No |
ClinGen TOPMed |
|
|
rs747138309 CA3367428 |
475 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA360604750 rs746998069 |
476 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746998069 CA3367399 |
476 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM2990878 CA3367398 rs777792567 |
477 | R>C | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs752217121 CA3367396 |
477 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA3367397 rs752217121 |
477 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA360604726 rs1280483750 |
478 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
CA3367395 rs765006639 |
478 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs201722745 COSM1432123 CA3367394 |
479 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3367393 rs201722745 |
479 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs766720506 CA3367392 COSM1205405 |
479 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1252071898 CA360604696 |
480 | C>W | No |
ClinGen gnomAD |
|
|
rs1027858763 CA124932226 |
480 | C>Y | No |
ClinGen Ensembl |
|
|
CA3367391 rs374638024 |
483 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3367390 rs773724351 |
483 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360604640 rs1282119624 |
484 | S>R | No |
ClinGen gnomAD |
|
|
CA124932188 rs557057301 |
485 | G>D | No |
ClinGen Ensembl |
|
|
rs1204001299 CA360604622 |
486 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1472050546 CA360604587 |
488 | S>T | No |
ClinGen TOPMed |
|
|
CA360604565 rs1310988048 |
489 | E>D | No |
ClinGen gnomAD |
|
|
rs767948485 CA3367389 |
493 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs7719346 CA360604527 |
495 | Y>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs7719346 CA3367388 |
495 | Y>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3367386 rs375015362 |
496 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3367387 rs199768543 |
496 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1400178009 CA360604518 |
497 | K>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 498 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1399832647 CA360604482 |
499 | R>S | No |
ClinGen Ensembl |
|
|
CA124923898 rs564382663 |
502 | I>M | No |
ClinGen Ensembl |
|
|
rs768064950 CA3367358 |
502 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA360603713 rs1303514888 |
503 | R>Q | No |
ClinGen gnomAD |
|
|
rs779606560 COSM1578924 CA3367356 |
503 | R>W | Variant assessed as Somatic; 0.0006959 impact. meninges [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1450390738 CA360603706 |
504 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 505 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3367355 rs76446234 |
505 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs530179237 CA3367353 |
506 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs757604600 CA3367352 |
506 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1330692626 CA360603678 |
507 | D>G | No |
ClinGen TOPMed |
|
|
rs764591870 CA3367350 |
508 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3367351 rs752017195 |
508 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1580385741 CA360603657 |
509 | V>G | No |
ClinGen Ensembl |
|
|
rs762971095 CA3367349 |
512 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1355582192 CA360603592 |
513 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 513 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA124923788 rs975570127 |
514 | Q>H | No |
ClinGen Ensembl |
|
|
rs765388574 CA360603584 |
514 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3367347 rs765388574 |
514 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA124923770 rs565853431 |
515 | W>C | No |
ClinGen Ensembl |
|
|
rs964242860 CA124923777 |
515 | W>R | No |
ClinGen Ensembl |
|
|
rs759881837 CA3367345 |
516 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1231938118 CA360603500 |
519 | L>S | No |
ClinGen gnomAD |
|
|
rs774161097 CA3367341 |
521 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs768599789 CA3367340 |
522 | Q>K | No |
ClinGen ExAC |
|
|
CA360603417 rs1297860020 |
524 | E>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA124923715 rs967677125 |
524 | E>K | No |
ClinGen gnomAD |
|
|
rs769288147 CA3367337 |
526 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA3367336 rs75508009 |
526 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs755555590 | 526 | N>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs75508009 CA360603377 |
526 | N>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA360603342 rs1190198006 |
528 | A>G | No |
ClinGen TOPMed |
|
|
CA360603349 rs1166261816 |
528 | A>S | No |
ClinGen gnomAD |
|
|
CA360603346 rs1190198006 |
528 | A>V | No |
ClinGen TOPMed |
|
|
COSM1176926 rs757618909 CA360603339 |
529 | D>N | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs757618909 CA3367333 |
529 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1240344070 CA360603306 |
530 | P>L | No |
ClinGen gnomAD |
|
|
rs892879932 CA124923685 |
530 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs577184297 CA3367332 |
531 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3367330 rs753114972 |
532 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753114972 CA3367331 |
532 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360603261 rs1560058 |
532 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1560058 CA3367328 |
532 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA360603264 rs1560058 |
532 | N>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3367329 rs753114972 |
532 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201759704 CA3367326 |
534 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs545808705 COSM244270 CA3367325 |
534 | R>L | prostate breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs545808705 CA3367324 |
534 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA360603215 rs1241056891 |
535 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA360603213 rs1241056891 |
535 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA360603195 rs1379432319 |
537 | H>Q | No |
ClinGen gnomAD |
|
|
rs1346714906 CA360603190 |
538 | R>I | No |
ClinGen TOPMed |
|
|
CA3367323 rs774150056 |
540 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs200134609 CA3367322 |
540 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA360603178 rs200134609 |
540 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1186499825 CA360603172 COSM260695 |
541 | S>L | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
| TCGA novel | 542 | R>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1178728950 CA360702136 |
543 | S>I | No |
ClinGen gnomAD |
|
|
CA3367295 rs772727938 |
545 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA360702110 rs1194438918 |
547 | Q>E | No |
ClinGen gnomAD |
|
| TCGA novel | 549 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1580360683 CA360702087 |
550 | E>* | No |
ClinGen Ensembl |
|
| TCGA novel | 551 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3367292 rs779599281 |
552 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs769240458 CA3367291 |
553 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1317205804 CA360702049 |
555 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1401304963 CA360702043 |
556 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1401304963 CA360702041 |
556 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1439332945 CA360702014 |
558 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs751898965 CA3367263 |
559 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs751898965 CA125492922 |
559 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA360702001 rs1561446195 |
560 | L>H | No |
ClinGen Ensembl |
|
|
rs1405035085 CA360701984 |
563 | P>T | No |
ClinGen TOPMed |
|
|
CA3367261 rs753788192 |
564 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA3367260 rs766163635 |
564 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA3367258 rs201909036 |
565 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA360701961 rs1379158442 |
567 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA3367256 COSM1310437 rs761599799 |
568 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 572 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1284606818 CA360701921 |
572 | K>R | No |
ClinGen TOPMed |
|
|
rs764564648 CA3367252 |
575 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764564648 CA360701900 |
575 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 576 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3367249 rs758588723 |
577 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs368185688 CA125492921 |
579 | I>M | No |
ClinGen ESP TOPMed |
|
|
rs1317911184 CA360701873 |
579 | I>T | No |
ClinGen TOPMed |
|
|
rs1156937924 CA360701876 |
579 | I>V | No |
ClinGen gnomAD |
|
|
CA360701847 rs1160739482 |
581 | T>I | No |
ClinGen gnomAD |
|
|
CA125492768 rs200738708 |
584 | D>E | No |
ClinGen gnomAD |
|
|
CA125492769 rs200195011 |
584 | D>Y | No |
ClinGen Ensembl |
|
|
rs1172971839 CA360701825 |
585 | P>A | No |
ClinGen gnomAD |
|
|
CA360701824 rs1172971839 |
585 | P>S | No |
ClinGen gnomAD |
|
|
CA360701819 rs201545233 |
586 | I>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1260999595 CA360701817 |
586 | I>T | No |
ClinGen gnomAD |
|
|
CA3367230 rs201545233 |
586 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3367229 rs368470046 |
587 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA gnomAD |
|
rs17266567 CA3367228 |
587 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1156295862 CA360701802 |
589 | R>G | No |
ClinGen TOPMed |
|
|
CA125492766 rs985297740 |
590 | H>P | No |
ClinGen TOPMed |
|
|
CA360701778 rs1264867754 |
592 | H>L | No |
ClinGen gnomAD |
|
|
rs1461513463 CA360701777 |
592 | H>Q | No |
ClinGen TOPMed |
|
|
CA360701771 rs533999192 |
593 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3367227 rs533999192 |
593 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773454868 CA3367224 |
595 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA3367223 COSM256858 rs772237814 |
595 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA3367222 rs748384550 |
596 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA360701758 rs1580356928 |
596 | S>T | No |
ClinGen Ensembl |
|
|
CA3367221 rs779756431 |
598 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs755935788 CA3367220 |
598 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs922100221 CA125492765 |
599 | Q>E | No |
ClinGen Ensembl |
|
|
rs1179564063 CA360701731 |
600 | Y>F | No |
ClinGen Ensembl |
|
|
CA3367219 rs370174086 |
600 | Y>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs781207403 CA3367218 |
601 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs756855321 CA3367217 |
601 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1334536875 CA360701718 |
602 | R>S | No |
ClinGen gnomAD |
|
|
rs751062021 CA3367216 |
604 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs183686385 CA3367214 |
604 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs777398758 CA3367215 |
604 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1425067596 CA360701702 |
605 | C>S | No |
ClinGen gnomAD |
|
|
rs1179639711 CA360701692 |
607 | D>Y | No |
ClinGen gnomAD |
|
|
CA3367212 rs200812889 COSM3768085 |
610 | R>* | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs754307593 CA3367211 |
610 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754307593 CA3367210 |
610 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1352393001 CA360701665 |
611 | S>* | No |
ClinGen Ensembl |
|
|
rs1561444719 CA360701659 |
612 | V>D | No |
ClinGen Ensembl |
|
|
rs946537686 CA125492764 |
613 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA360701646 rs1297518376 COSM70618 |
614 | S>L | ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1198491850 CA360701645 |
615 | E>K | No |
ClinGen gnomAD |
|
|
rs1561444673 CA360701637 |
616 | V>M | No |
ClinGen Ensembl |
|
|
CA3367203 rs772113191 |
617 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA3367181 rs750927508 |
617 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3367180 rs767645587 |
619 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs761882734 CA3367179 |
620 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 620 | T>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360701598 rs1247325512 |
620 | T>R | No |
ClinGen gnomAD |
|
|
CA3367178 rs774466034 |
621 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA360701578 rs1285630233 |
623 | V>A | No |
ClinGen gnomAD |
|
|
CA360701574 rs1240583181 |
624 | P>S | No |
ClinGen gnomAD |
|
|
CA360701568 rs1318439647 |
625 | P>S | No |
ClinGen gnomAD |
|
|
CA3367175 rs776607129 |
627 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776607129 CA3367176 |
627 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1368243029 CA360701552 |
628 | V>L | No |
ClinGen gnomAD |
|
|
rs766163075 CA125492755 |
630 | R>C | No |
ClinGen Ensembl |
|
|
rs7703522 CA3367172 |
630 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3367170 rs368861569 |
632 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368861569 CA3367171 |
632 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754709341 CA3367168 |
634 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs748912347 COSM1059514 CA3367167 |
634 | A>V | endometrium Variant assessed as Somatic; 4.639e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs756460326 CA3367165 |
636 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA360701508 rs756460326 |
636 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs750945497 CA3367164 |
637 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA125492754 rs868429825 |
638 | G>R | No |
ClinGen Ensembl |
|
|
CA3367162 rs757303695 |
639 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA3367163 rs768025406 |
639 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA360701480 rs1201651846 |
641 | T>A | No |
ClinGen gnomAD |
|
|
rs1487389376 CA360701478 |
641 | T>K | No |
ClinGen gnomAD |
|
|
rs1201651846 CA360701481 |
641 | T>P | No |
ClinGen gnomAD |
|
|
rs180931108 CA3367161 |
642 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs189409879 CA3367160 |
642 | V>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA360701475 rs180931108 |
642 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA360701469 rs1357670187 |
643 | H>Y | No |
ClinGen TOPMed |
|
|
CA3367159 rs763301958 |
644 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA360701458 rs1232322738 |
644 | Q>H | No |
ClinGen gnomAD |
|
|
rs775841254 CA3367158 |
644 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200807148 CA3367124 |
645 | R>* | No |
ClinGen ExAC |
|
|
rs200807148 CA360701443 |
645 | R>G | No |
ClinGen ExAC |
|
|
rs774146701 CA3367123 |
645 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs774146701 CA3367122 |
645 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1171435544 CA360701439 |
646 | R>G | No |
ClinGen gnomAD |
|
|
rs1335695631 CA360701436 |
646 | R>T | No |
ClinGen TOPMed |
|
|
CA360701432 rs1463652397 |
647 | N>H | No |
ClinGen gnomAD |
|
|
CA360701424 rs1366919934 |
648 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1366919934 CA360701422 |
648 | G>W | No |
ClinGen gnomAD |
|
|
CA360701414 rs1399536446 |
649 | S>C | No |
ClinGen TOPMed |
|
|
CA3367120 rs768227870 |
650 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA125492349 rs908065015 |
650 | K>R | No |
ClinGen TOPMed |
|
|
CA360701399 rs1176568510 |
651 | D>E | No |
ClinGen gnomAD |
|
|
CA3367118 rs200449454 |
652 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA360701390 rs1258681070 |
653 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1276822457 CA360701380 |
654 | M>I | No |
ClinGen TOPMed |
|
|
rs1353721068 CA360701383 |
654 | M>K | No |
ClinGen gnomAD |
|
|
CA360701382 rs1353721068 |
654 | M>T | No |
ClinGen gnomAD |
|
| TCGA novel | 655 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA360701373 rs1264352011 |
655 | E>G | No |
ClinGen gnomAD |
|
|
CA360701359 rs1245012336 |
657 | K>* | No |
ClinGen gnomAD |
|
|
CA360701360 rs1245012336 |
657 | K>E | No |
ClinGen gnomAD |
|
|
CA360701347 rs1445079987 |
659 | Q>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1376804746 CA360701339 |
660 | T>P | No |
ClinGen gnomAD |
|
|
rs1014125487 CA125492348 |
661 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA360701331 rs1330213361 |
661 | S>Y | No |
ClinGen gnomAD |
|
|
rs959974023 CA125492347 |
663 | N>T | No |
ClinGen Ensembl |
|
|
CA125492346 rs923317190 |
665 | L>V | No |
ClinGen TOPMed |
|
|
rs1412142897 CA360701303 |
666 | A>T | No |
ClinGen gnomAD |
|
|
RCV000952878 rs1551935 CA3367113 |
666 | A>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs781666158 CA3367111 |
667 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1425484646 CA360701298 |
667 | G>R | No |
ClinGen gnomAD |
|
|
rs781666158 CA360701294 |
667 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs879099117 CA125492344 |
668 | K>I | No |
ClinGen Ensembl |
|
|
rs568177274 CA125492343 |
670 | T>A | No |
ClinGen Ensembl |
|
|
CA360701273 rs1238702453 |
671 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs372333096 CA3367108 |
671 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs576427101 CA3367107 |
672 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3367105 rs184684511 |
673 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed |
|
|
CA3367103 rs371801383 |
674 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200146895 CA3367104 |
674 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 675 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754005178 CA360701248 |
675 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs754005178 CA3367102 |
675 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs763967074 CA3367098 |
677 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA3367099 rs751523217 |
677 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA3367097 rs762850623 |
680 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA3367096 rs367564664 |
681 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201809605 CA3367095 |
681 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA360701209 rs959892240 |
682 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA125492342 rs959892240 |
682 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3367090 rs747295977 |
684 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1214466968 CA360701189 |
685 | E>G | No |
ClinGen TOPMed |
|
|
rs778367471 CA360701192 |
685 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778367471 CA3367089 |
685 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1161921082 CA360701177 |
687 | T>G | No |
ClinGen Ensembl |
No associated diseases with Q9HCS5
9 regional properties for Q9HCS5
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | FERM domain | 11 - 299 | IPR000299 |
| domain | FERM adjacent | 310 - 357 | IPR014847 |
| domain | FERM, N-terminal | 15 - 81 | IPR018979 |
| domain | FERM, C-terminal PH-like domain | 215 - 303 | IPR018980 |
| conserved_site | FERM conserved site | 70 - 102 | IPR019747-1 |
| conserved_site | FERM conserved site | 181 - 210 | IPR019747-2 |
| domain | FERM central domain | 104 - 211 | IPR019748 |
| domain | Band 4.1 domain | 7 - 211 | IPR019749 |
| domain | Band 4.1-like protein 4A, FERM domain, F1 sub-domain | 9 - 102 | IPR030696 |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytoskeleton | A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| cytoskeletal protein binding | Binding to a protein component of a cytoskeleton (actin, microtubule, or intermediate filament cytoskeleton). |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| actomyosin structure organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures containing both actin and myosin or paramyosin. The myosin may be organized into filaments. |
14 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q58CU2 | EPB41L5 | Band 4.1-like protein 5 | Bos taurus (Bovine) | PR |
| Q9HCM4 | EPB41L5 | Band 4.1-like protein 5 | Homo sapiens (Human) | PR |
| Q7Z6J6 | FRMD5 | FERM domain-containing protein 5 | Homo sapiens (Human) | PR |
| A2A2Y4 | FRMD3 | FERM domain-containing protein 3 | Homo sapiens (Human) | PR |
| O43491 | EPB41L2 | Band 4.1-like protein 2 | Homo sapiens (Human) | PR |
| Q9H4G0 | EPB41L1 | Band 4.1-like protein 1 | Homo sapiens (Human) | PR |
| P11171 | EPB41 | Protein 4.1 | Homo sapiens (Human) | PR |
| Q9Y2J2 | EPB41L3 | Band 4.1-like protein 3 | Homo sapiens (Human) | PR |
| Q8BHD4 | Frmd3 | FERM domain-containing protein 3 | Mus musculus (Mouse) | PR |
| Q6P5H6 | Frmd5 | FERM domain-containing protein 5 | Mus musculus (Mouse) | PR |
| Q8BGS1 | Epb41l5 | Band 4.1-like protein 5 | Mus musculus (Mouse) | PR |
| P52963 | Epb41l4a | Band 4.1-like protein 4A | Mus musculus (Mouse) | PR |
| Q0P4Q4 | frmd3 | FERM domain-containing protein 3 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| O57457 | epb41l4a | Band 4.1-like protein 4 | Danio rerio (Zebrafish) (Brachydanio rerio) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGCFCAVPEE | FYCEVLLLDE | SKLTLTTQQQ | GIKKSTKGSV | VLDHVFHHVN | LVEIDYFGLR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| YCDRSHQTYW | LDPAKTLAEH | KELINTGPPY | TLYFGIKFYA | EDPCKLKEEI | TRYQFFLQVK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QDVLQGRLPC | PVNTAAQLGA | YAIQSELGDY | DPYKHTAGYV | SEYRFVPDQK | EELEEAIERI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| HKTLMGQIPS | EAELNYLRTA | KSLEMYGVDL | HPVYGENKSE | YFLGLTPVGV | VVYKNKKQVG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KYFWPRITKV | HFKETQFELR | VLGKDCNETS | FFFEARSKTA | CKHLWKCSVE | HHTFFRMPEN |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ESNSLSRKLS | KFGSIRYKHR | YSGRTALQMS | RDLSIQLPRP | DQNVTRSRSK | TYPKRIAQTQ |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PAESNSISRI | TANMENGENE | GTIKIIAPSP | VKSFKKAKNE | NSPDTQRSKS | HAPWEENGPQ |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SGLYNSPSDR | TKSPKFPYTR | RRNPSCGSDN | DSVQPVRRRK | AHNSGEDSDL | KQRRRSRSRC |
| 490 | 500 | 510 | 520 | 530 | 540 |
| NTSSGSESEN | SNREYRKKRN | RIRQENDMVD | SAPQWEAVLR | RQKEKNQADP | NNRRSRHRSR |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SRSPDIQAKE | ELWKHIQKEL | VDPSGLSEEQ | LKEIPYTKIE | TQGDPIRIRH | SHSPRSYRQY |
| 610 | 620 | 630 | 640 | 650 | 660 |
| RRSQCSDGER | SVLSEVNSKT | DLVPPLPVTR | SSDAQGSGDA | TVHQRRNGSK | DSLMEEKPQT |
| 670 | 680 | ||||
| STNNLAGKHT | AKTIKTIQAS | RLKTET |