P46059
PR
Gene name |
SLC15A1 |
Protein name |
Solute carrier family 15 member 1 |
Names |
Intestinal H(+)/peptide cotransporter, Oligopeptide transporter, small intestine isoform, Peptide transporter 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6564 |
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
4 structures for P46059
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7PMW | EM | 410 A | A | 1-708 | PDB |
| 7PMX | EM | 350 A | A | 1-708 | PDB |
| 7PN1 | EM | 390 A | A | 1-708 | PDB |
| AF-P46059-F1 | Predicted | AlphaFoldDB |
632 variants for P46059
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1305594649 CA388579429 |
2 | G>* | No |
ClinGen gnomAD |
|
|
rs777422290 CA7028520 |
3 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA7028519 rs771811116 |
5 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1180220058 CA388598849 |
5 | K>R | No |
ClinGen gnomAD |
|
|
CA388598840 rs1262394394 |
6 | S>L | No |
ClinGen TOPMed gnomAD |
|
| rs369459343 | 7 | H>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369459343 CA7028518 |
7 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368264683 CA255297890 |
8 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368264683 CA7028476 |
8 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781352314 CA7028475 |
10 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1045942083 CA388597789 |
11 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA255297864 rs1045942083 |
11 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA7028473 rs144970844 |
12 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7028472 rs777885741 |
13 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA388597750 rs1271755007 |
14 | L>P | No |
ClinGen gnomAD |
|
|
CA388597739 rs1594000640 |
15 | S>N | No |
ClinGen Ensembl |
|
|
CA255297850 rs916113621 |
16 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 17 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7028471 rs758753995 |
19 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA7028469 rs772104767 |
20 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA255297785 rs8187818 |
21 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7028468 VAR_029321 rs8187818 |
21 | V>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA255297786 rs8187818 |
21 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs766960822 CA7028466 |
22 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs375250460 CA7028467 |
22 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA388597609 rs1282164265 |
23 | E>D | No |
ClinGen TOPMed |
|
|
rs113158640 CA255297763 |
23 | E>G | No |
ClinGen Ensembl |
|
|
CA7028465 rs368027304 |
24 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763694231 CA7028463 |
25 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1174242331 CA388597565 |
26 | E>G | No |
ClinGen gnomAD |
|
|
CA7028462 rs558276843 |
26 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7028460 VAR_029322 rs8187817 |
28 | F>Y | No |
ClinGen UniProt ESP ExAC TOPMed dbSNP |
|
|
CA255297734 rs867555455 COSM225017 |
29 | S>F | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs745740194 CA7028459 |
30 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA7028458 rs147593798 |
31 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1231758184 CA388597445 |
33 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs747095693 CA388597435 |
34 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs145078867 CA255297704 |
34 | R>Q | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1344440299 CA388597387 |
35 | A>G | No |
ClinGen gnomAD |
|
|
CA255297588 rs936122952 |
36 | I>T | No |
ClinGen TOPMed |
|
|
rs373660111 CA7028429 |
39 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 39 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777088882 CA7028428 |
40 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1382790002 CA388597361 |
40 | Y>H | No |
ClinGen gnomAD |
|
|
CA7028426 rs752357974 |
41 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs181173668 CA7028425 |
43 | N>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs759378940 CA7028424 |
44 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753740302 CA7028423 |
45 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 46 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201183216 CA7028422 |
47 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7028421 rs760459230 |
48 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1406592578 CA388597241 |
48 | D>G | No |
ClinGen TOPMed |
|
|
CA388597250 rs1223366589 |
48 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA388597245 rs1223366589 |
48 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA388597190 rs1361006333 |
51 | L>P | No |
ClinGen gnomAD |
|
|
CA388597180 rs1303344184 |
52 | S>C | No |
ClinGen TOPMed |
|
|
CA388597175 rs1303344184 |
52 | S>F | No |
ClinGen TOPMed |
|
|
rs772001248 CA7028419 |
52 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs772001248 CA388597185 |
52 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA388597171 rs1363362904 |
53 | T>P | No |
ClinGen gnomAD |
|
|
rs770068223 CA388597151 |
54 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs199996553 CA255297503 |
54 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7028416 rs199996553 COSM1368169 |
54 | A>T | Variant assessed as Somatic; 0.0001386 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs770068223 CA7028415 |
54 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs780351123 CA7028414 |
55 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs770207162 CA7028413 |
56 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA7028411 rs147741339 |
57 | H>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147741339 CA7028412 |
57 | H>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA388597104 rs147741339 |
57 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs752300895 CA7028409 |
58 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs757814242 CA7028410 |
58 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1285990445 CA388597073 |
59 | F>L | No |
ClinGen TOPMed |
|
|
rs754741574 CA7028407 |
61 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs766033049 CA7028405 |
63 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388597042 rs1220203305 |
64 | Y>* | No |
ClinGen gnomAD |
|
| TCGA novel | 65 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750292148 CA7028403 |
66 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA7028402 COSM3399482 rs374943370 |
66 | T>M | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA7028400 rs774471834 |
68 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140055365 CA7028399 |
69 | L>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA |
|
CA7028398 rs763096668 |
69 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs533397969 CA7028395 |
70 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs776980735 CA7028394 |
70 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771620312 CA7028393 |
71 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA7028392 rs201813894 |
72 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1303594582 CA388596999 |
73 | I>F | No |
ClinGen TOPMed |
|
|
CA388596998 rs778496678 |
73 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778496678 CA388596997 |
73 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778496678 CA7028391 |
73 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748250739 CA7028389 |
74 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1481022712 CA388596989 |
75 | D>N | No |
ClinGen gnomAD |
|
|
rs952537023 CA255297378 |
75 | D>V | No |
ClinGen TOPMed |
|
|
CA7028387 rs200210206 |
76 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7028386 rs200210206 |
76 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA388596981 rs1440889468 |
76 | S>P | No |
ClinGen TOPMed |
|
|
rs1321140067 COSM158630 CA388596974 |
77 | W>* | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA388596954 rs1566454416 |
80 | K>M | No |
ClinGen Ensembl |
|
|
CA7028383 rs751504367 |
81 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA388596927 rs1401424230 |
82 | K>N | No |
ClinGen gnomAD |
|
|
CA7028364 rs777725868 |
84 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA7028363 COSM949175 rs758384867 |
86 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs765369118 CA7028361 |
87 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs759732618 CA255296291 |
89 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144863737 CA7028359 |
89 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7028360 rs759732618 |
89 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1204118726 CA388596886 |
90 | V>F | No |
ClinGen gnomAD |
|
|
rs148742760 CA7028358 |
93 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7028357 rs761155832 |
94 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1157667424 CA388596857 |
95 | Q>* | No |
ClinGen TOPMed |
|
|
CA255296264 rs796920427 |
96 | A>G | No |
ClinGen Ensembl |
|
|
CA7028356 rs773827288 |
96 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1018722851 CA255296258 |
97 | V>D | No |
ClinGen TOPMed |
|
|
CA7028355 rs772759102 |
102 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA388596810 rs772759102 |
102 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs775134207 CA7028354 |
103 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1247707941 CA388596808 |
103 | I>N | No |
ClinGen gnomAD |
|
|
CA388596806 rs1247707941 |
103 | I>S | No |
ClinGen gnomAD |
|
|
rs775134207 CA7028353 |
103 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 104 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7028352 rs769193109 |
111 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388596744 rs1382939180 |
112 | D>H | No |
ClinGen gnomAD |
|
|
rs745469372 CA7028351 |
114 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA388596731 rs1593998912 |
114 | T>P | No |
ClinGen Ensembl |
|
|
CA7028350 rs149558491 |
115 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770680562 CA7028349 |
115 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388596716 rs145542519 |
116 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7028347 rs145542519 |
116 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs2297322 CA388596696 |
117 | S>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7028346 rs2297322 VAR_022147 |
117 | S>N | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA7028345 rs8187821 VAR_029323 |
117 | S>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA388596695 rs2297322 |
117 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1264853066 CA388596657 |
120 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA7028343 rs755032270 |
120 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388596651 rs1202185297 |
121 | H>D | No |
ClinGen gnomAD |
|
|
rs1202185297 CA388596649 |
121 | H>Y | No |
ClinGen gnomAD |
|
|
VAR_020456 rs8187820 CA7028341 RCV000962480 |
122 | V>M | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA388595051 rs1593997881 |
124 | L>P | No |
ClinGen Ensembl |
|
|
CA388594991 rs764555892 |
128 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs554444063 CA388594987 |
128 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7028316 rs764555892 |
128 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7028315 rs554444063 |
128 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7028314 rs776190122 |
132 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA388594902 rs1566453103 |
134 | L>V | No |
ClinGen Ensembl |
|
|
CA255295024 rs866010443 |
135 | G>R | No |
ClinGen gnomAD |
|
|
rs760259204 CA7028311 |
137 | G>E | No |
ClinGen ExAC |
|
|
rs772870642 CA7028310 |
138 | G>R | No |
ClinGen ExAC |
|
|
CA388594749 rs1174021341 |
141 | P>L | No |
ClinGen gnomAD |
|
|
rs372407011 CA7028309 |
141 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747936006 CA7028308 |
143 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA388594718 rs1239952771 |
143 | V>M | No |
ClinGen gnomAD |
|
|
rs1362784534 CA388594702 |
144 | S>T | No |
ClinGen gnomAD |
|
|
COSM1225930 CA7028307 rs774325695 |
145 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA7028305 rs144769531 |
146 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA388594610 rs1203466969 |
149 | D>E | No |
ClinGen gnomAD |
|
|
CA7028303 rs141760518 |
151 | F>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7028304 rs141760518 |
151 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1280979166 CA388594570 |
152 | E>G | No |
ClinGen gnomAD |
|
|
CA388594531 rs1349960578 |
155 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA388594449 rs1317124874 |
156 | E>D | No |
ClinGen gnomAD |
|
|
CA388594439 rs1398852589 |
157 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 161 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA255294817 rs79092209 |
161 | R>S | No |
ClinGen gnomAD |
|
|
rs1343028459 CA388594341 |
164 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 164 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1437755075 CA388594322 |
165 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1437755075 CA388594324 |
165 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs767195151 CA7028272 |
166 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1465419093 CA388594266 |
167 | Y>F | No |
ClinGen gnomAD |
|
|
CA7028271 CA388594229 rs761306515 |
168 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs751242911 CA7028270 |
169 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA255294784 rs201099957 |
169 | A>V | No |
ClinGen gnomAD |
|
|
CA255294781 rs933591451 |
170 | I>L | No |
ClinGen TOPMed |
|
|
rs933591451 CA388594206 |
170 | I>V | No |
ClinGen TOPMed |
|
|
CA7028269 rs763937158 |
171 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA388594166 rs1191878592 |
172 | A>T | No |
ClinGen gnomAD |
|
|
rs762875088 CA7028268 |
174 | S>G | No |
ClinGen ExAC |
|
|
rs775540418 CA7028267 |
175 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 176 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759653360 CA7028265 |
179 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1258480000 CA388593976 |
181 | T>A | No |
ClinGen gnomAD |
|
|
rs1220037519 CA388593962 |
181 | T>I | No |
ClinGen gnomAD |
|
|
CA255294772 rs533040643 |
182 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7028264 rs533040643 |
182 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs192394513 CA7028262 |
183 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7028263 rs771051696 |
183 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1219279032 CA388593933 |
183 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1296956420 CA388593908 |
184 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA7028212 rs148002525 |
187 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7028210 rs756013521 |
189 | C>Y | No |
ClinGen ExAC |
|
|
rs528453066 CA7028209 |
190 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs202183689 CA7028207 |
192 | H>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7028206 rs143516109 |
192 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7028205 rs200536879 |
193 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA388593105 rs940785611 |
195 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA255293676 rs940785611 |
195 | Q>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 196 | A>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763215970 CA7028204 |
196 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs775854462 CA7028203 |
197 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369068628 CA7028202 |
198 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA388593042 rs895866918 |
199 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA255293642 rs895866918 |
199 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA388593021 rs1202755760 |
200 | L>P | No |
ClinGen TOPMed |
|
|
CA255293631 rs770378038 |
201 | A>V | No |
ClinGen Ensembl |
|
|
rs1264124390 CA388592951 |
205 | P>A | No |
ClinGen TOPMed |
|
| TCGA novel | 206 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771677283 CA7028199 |
207 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA7028198 rs376227654 |
208 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs768420060 CA7028196 |
209 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs778414198 CA7028197 |
209 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA255293572 rs78068268 |
211 | V>G | No |
ClinGen Ensembl |
|
|
rs1446778479 CA388592841 |
212 | A>P | No |
ClinGen gnomAD |
|
|
CA388592845 rs1446778479 |
212 | A>S | No |
ClinGen gnomAD |
|
|
CA388592823 rs1340672303 |
213 | L>P | No |
ClinGen gnomAD |
|
|
CA388591953 rs1168721190 |
218 | L>V | No |
ClinGen gnomAD |
|
|
rs757255112 CA7028171 |
219 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs751462313 CA7028170 |
221 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs777857590 CA7028169 |
222 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA388591928 rs1195892298 |
222 | M>L | No |
ClinGen gnomAD |
|
|
CA7028168 rs758434120 |
223 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs752929382 CA7028167 |
225 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs78350626 CA7028164 |
226 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA255291536 rs112948078 |
227 | K>E | No |
ClinGen Ensembl |
|
|
rs766853164 CA7028163 |
227 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs761207197 CA7028162 |
228 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1593994428 CA388591857 |
229 | Q>* | No |
ClinGen Ensembl |
|
|
CA7028161 rs147777498 |
229 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1215795453 CA388591838 |
230 | G>D | No |
ClinGen gnomAD |
|
|
CA388591843 rs1340521628 |
230 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7028160 rs763620882 |
233 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs762410666 CA7028159 |
234 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7028158 rs556691450 |
235 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA388591768 rs1257314081 |
236 | V>M | No |
ClinGen TOPMed |
|
|
rs745660919 CA7028156 |
237 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7028155 rs370577048 |
238 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1401276908 CA388591718 |
240 | I>V | No |
ClinGen gnomAD |
|
|
CA7028153 rs746921019 |
241 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs867664499 CA255289765 |
243 | A>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 246 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388590950 rs1438775870 |
248 | F>L | No |
ClinGen gnomAD |
|
|
rs1286317726 CA388590939 |
248 | F>L | No |
ClinGen TOPMed |
|
|
CA388590938 rs1238571750 |
249 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1238571750 CA388590936 |
249 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA255289735 rs529976819 |
250 | H>R | No |
ClinGen 1000Genomes |
|
|
rs759137001 CA7028137 |
250 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs74889332 CA7028135 |
251 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs578219578 CA7028136 |
251 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA388590783 rs1349496883 |
256 | P>L | No |
ClinGen gnomAD |
|
|
rs771970613 CA7028132 |
259 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs773187812 CA7028133 |
259 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779077196 CA7028130 |
260 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779077196 CA7028131 |
260 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7028126 rs756479937 |
261 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA7028128 rs780464938 |
261 | W>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780464938 CA7028127 |
261 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 265 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7028123 rs1555323374 |
265 | A>V | No |
ClinGen Ensembl |
|
|
rs540714136 CA255289686 |
267 | E>G | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA255289690 rs867134128 |
267 | E>K | No |
ClinGen Ensembl |
|
|
rs1370197404 CA388590482 |
268 | K>N | No |
ClinGen TOPMed |
|
|
CA7028122 rs781722627 |
270 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1248565785 CA388590249 |
271 | E>K | No |
ClinGen TOPMed |
|
|
CA7028099 rs765916431 |
272 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1444031696 CA388590206 |
272 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs750111801 CA7028097 |
274 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs750111801 CA7028098 |
274 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA388590127 rs1442481002 |
276 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1593992192 CA388590120 |
276 | Q>P | No |
ClinGen Ensembl |
|
|
CA388590051 rs1170331592 |
279 | M>L | No |
ClinGen TOPMed |
|
|
CA7028095 rs761740582 |
279 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs774409998 CA7028094 |
280 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA388589984 rs369301364 |
281 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1368167 CA7028092 rs369301364 |
281 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7028093 rs369301364 |
281 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7028088 rs771173637 |
282 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA7028086 rs375733107 |
283 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1374304869 CA388589922 |
284 | M>I | No |
ClinGen gnomAD |
|
|
rs778247771 CA7028085 |
285 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA7028083 rs775468464 |
287 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779381484 CA7028082 |
290 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA7028081 rs755681837 |
291 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA255288743 rs943020507 |
291 | P>T | No |
ClinGen Ensembl |
|
|
CA388589729 rs1555323274 |
292 | M>I | No |
ClinGen Ensembl |
|
|
rs750012790 CA7028080 |
292 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1341492486 CA388589699 |
293 | F>L | No |
ClinGen gnomAD |
|
|
CA7028079 rs767250419 |
294 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1450907225 CA388589667 |
295 | A>V | No |
ClinGen TOPMed |
|
|
rs1330421836 CA388589662 |
296 | L>S | No |
ClinGen gnomAD |
|
| rs1159478484 | 301 | G>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs367841578 CA7028056 |
302 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7028055 rs138374185 |
303 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA388588463 rs1270577401 |
305 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7028054 rs375350352 |
307 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1259723625 CA388588446 |
308 | A>E | No |
ClinGen gnomAD |
|
|
rs776703309 CA255284548 |
308 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776703309 CA7028053 |
308 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388588438 rs1212882651 |
309 | T>K | No |
ClinGen gnomAD |
|
|
rs1487247930 CA388588432 |
310 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1487247930 CA388588433 |
310 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs773452880 CA7028050 |
311 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs760837684 CA7028051 |
311 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772395138 CA7028049 |
312 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA7028047 rs532061967 |
313 | G>R | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs1314211245 | 315 | I>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7028032 rs750623165 |
316 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA388588388 rs1433522703 |
316 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs762081521 CA7028030 |
322 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1225356395 CA388588337 |
323 | D>E | No |
ClinGen gnomAD |
|
|
CA7028028 rs201230121 COSM3704745 |
323 | D>N | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
rs763471683 CA255284458 |
324 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7028027 rs763471683 |
324 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1420331896 CA388588331 |
324 | Q>H | No |
ClinGen gnomAD |
|
|
rs776176363 CA7028026 |
325 | M>L | No |
ClinGen ExAC |
|
|
CA7028025 rs368043114 |
325 | M>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA388588316 rs1348460788 |
326 | Q>H | No |
ClinGen gnomAD |
|
| TCGA novel | 328 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA255284413 rs746633189 |
328 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA388588244 rs1355149702 COSM215576 |
329 | N>K | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA7028010 rs763271001 |
330 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA7028011 rs764483622 |
330 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA388588228 rs1593990773 |
331 | I>F | No |
ClinGen Ensembl |
|
|
rs770486047 CA7028008 |
334 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7028007 rs537622016 |
336 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7028005 rs147969208 |
338 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772787952 CA7028006 |
338 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs773913876 CA7028003 |
341 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA7028004 rs747795371 |
341 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1309996246 CA388588098 |
341 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1235684178 CA388588084 |
342 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA388588081 rs1350441394 |
343 | V>M | No |
ClinGen gnomAD |
|
|
CA7028002 rs768475153 |
346 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA7028001 rs749140178 |
347 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs768362580 CA255284337 |
348 | I>T | No |
ClinGen gnomAD |
|
|
rs1361483719 CA388588017 |
348 | I>V | No |
ClinGen TOPMed |
|
|
CA7028000 rs760207811 |
352 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1312139939 CA388587899 |
353 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA7027999 rs755980163 |
353 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA7027998 rs555361902 |
354 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1387229718 CA388587868 |
355 | F>L | No |
ClinGen TOPMed |
|
|
CA255284331 rs1018803963 |
356 | T>I | No |
ClinGen TOPMed |
|
| TCGA novel | 357 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754373671 CA7027972 |
360 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs761381923 CA7027971 CA7027970 |
361 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs112181280 CA255284021 |
361 | M>T | No |
ClinGen Ensembl |
|
|
rs1426484528 CA388587573 |
361 | M>V | No |
ClinGen TOPMed |
|
|
rs745696718 CA7027969 |
362 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7027968 rs763676037 |
362 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 364 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388587423 rs1339877236 |
365 | M>T | No |
ClinGen TOPMed |
|
|
rs762545132 CA7027967 |
365 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7027966 rs775156546 |
366 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs769548754 CA7027965 |
369 | S>Y | No |
ClinGen ExAC |
|
|
CA7027963 rs745350993 |
370 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA7027964 rs759378438 |
370 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388587283 rs1280006388 |
371 | A>T | No |
ClinGen TOPMed |
|
|
rs1165283665 CA388587172 |
375 | A>G | No |
ClinGen gnomAD |
|
|
CA388587181 rs1393262948 |
375 | A>T | No |
ClinGen gnomAD |
|
|
CA388587150 rs1370860175 |
377 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA388587151 rs1370860175 |
377 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs748347414 CA7027958 |
378 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA7027960 rs151053191 |
378 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7027959 rs151053191 |
378 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1406809546 CA388587115 |
379 | Q>* | No |
ClinGen TOPMed |
|
|
rs1406809546 CA388587120 |
379 | Q>K | No |
ClinGen TOPMed |
|
|
rs1593990139 CA388587083 |
380 | V>G | No |
ClinGen Ensembl |
|
|
CA7027957 rs779326408 |
380 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1782674 CA7027954 |
383 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 384 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1206480015 CA388586302 |
387 | P>L | No |
ClinGen TOPMed |
|
|
rs1303922285 CA388586300 |
388 | V>I | No |
ClinGen gnomAD |
|
|
CA7027936 rs779273389 |
392 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
rs768933771 CA7027935 |
393 | N>S | No |
ClinGen ExAC |
|
|
rs372092782 CA7027933 |
394 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372092782 CA7027932 COSM949170 |
394 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7027931 rs750866916 |
402 | I>T | No |
ClinGen ExAC gnomAD |
|
|
COSM949169 rs1260944361 CA388585991 |
404 | N>K | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 404 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA255282955 rs1001738851 |
404 | N>T | No |
ClinGen TOPMed |
|
|
CA255282945 rs201694136 |
405 | N>I | No |
ClinGen Ensembl |
|
|
CA255282952 COSM3943294 rs201694136 |
405 | N>S | ovary [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA388585948 rs1472560026 |
406 | T>I | No |
ClinGen TOPMed |
|
|
rs906010502 CA255282942 |
407 | M>I | No |
ClinGen TOPMed |
|
|
CA388585944 rs1311537447 |
407 | M>L | No |
ClinGen gnomAD |
|
|
rs1434673753 CA388585934 |
407 | M>T | No |
ClinGen gnomAD |
|
|
rs752275701 CA7027928 |
409 | I>M | No |
ClinGen ExAC |
|
|
CA388585887 rs1430551040 |
409 | I>V | No |
ClinGen TOPMed |
|
|
CA7027927 rs764735798 |
410 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA255282917 rs754534560 |
411 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754534560 CA7027926 |
411 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs534693426 CA7027925 |
412 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs867762914 CA255282912 COSM3711420 |
415 | M>I | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA7027923 rs368705037 |
415 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766055261 CA7027924 |
415 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs146304164 CA7027922 |
416 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA255282904 rs146304164 |
416 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs4646227 CA7027921 VAR_020457 |
419 | G>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA388585608 rs1593988406 |
421 | M>I | No |
ClinGen Ensembl |
|
|
CA255282889 rs776508439 |
421 | M>K | No |
ClinGen Ensembl |
|
|
rs776508439 CA255282887 |
421 | M>T | No |
ClinGen Ensembl |
|
|
rs1365263147 CA388585630 |
421 | M>V | No |
ClinGen TOPMed |
|
|
CA255282885 rs1050096674 |
422 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA388585594 rs1050096674 |
422 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA388585599 rs1227084566 |
422 | S>P | No |
ClinGen TOPMed |
|
| rs1232145872 | 424 | T>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA255282151 rs1046793861 |
424 | T>R | No |
ClinGen TOPMed |
|
|
rs750311413 CA7027904 |
426 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388583784 rs750311413 |
426 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1278628415 CA388583736 |
428 | M>L | No |
ClinGen TOPMed |
|
|
CA7027902 rs368610950 |
429 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7027903 rs368610950 |
429 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7027901 rs774397744 |
433 | N>K | No |
ClinGen ExAC TOPMed |
|
|
rs764109803 CA388583512 |
436 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764109803 CA7027900 |
436 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1392543442 CA388583502 |
437 | R>G | No |
ClinGen gnomAD |
|
|
CA388583495 rs1164570828 |
437 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 438 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7027899 rs763037549 |
440 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139972035 CA7027898 |
442 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1183496793 CA388583323 |
443 | P>L | No |
ClinGen gnomAD |
|
|
CA388583303 rs1474363876 |
444 | G>V | No |
ClinGen gnomAD |
|
|
rs746069652 CA7027895 |
448 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA255282098 rs796530285 |
450 | V>I | No |
ClinGen Ensembl |
|
|
CA7027893 VAR_022148 rs2274828 |
450 | V>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs8187838 VAR_020458 CA7027892 |
451 | T>N | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA255282041 rs549365999 |
453 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1391748829 CA388583065 |
453 | D>V | No |
ClinGen TOPMed |
|
|
CA7027888 rs549365999 |
453 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs554040423 CA255282036 |
457 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs554040423 CA7027886 |
457 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7027885 rs755854257 |
458 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA388582952 rs1325450377 |
458 | Q>R | No |
ClinGen gnomAD |
|
|
CA7027884 VAR_022149 rs2274827 |
459 | R>C | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA7027883 rs771067175 |
459 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388582903 rs771067175 |
459 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388582915 rs2274827 |
459 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs757075871 CA7027882 |
460 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757075871 CA388582900 |
460 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3399481 rs141206459 CA7027881 |
461 | T>M | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs141206459 CA388582856 |
461 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763198273 CA255282020 |
463 | L>V | No |
ClinGen Ensembl |
|
|
CA7027879 rs762943785 |
464 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1168491777 CA388582807 |
464 | V>L | No |
ClinGen gnomAD |
|
|
CA388582809 rs1168491777 |
464 | V>M | No |
ClinGen gnomAD |
|
|
rs577911700 CA7027877 |
465 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs577911700 CA7027878 |
465 | W>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA255281983 rs62637593 |
467 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs375203637 CA7027875 |
468 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7027874 rs771310131 COSM949168 |
471 | Q>H | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs760974461 CA7027873 |
472 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1436723900 CA388582667 |
472 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 473 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7027863 rs777422699 |
474 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs752550633 CA7027861 |
475 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7027862 rs758415785 |
475 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA7027859 rs759566368 |
477 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs766523628 CA7027858 |
478 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388582206 rs550700409 |
483 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7027852 rs762421955 |
485 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 486 | N>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 487 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388582147 rs1374107908 |
487 | G>R | No |
ClinGen gnomAD |
|
|
rs779118801 CA7027838 |
492 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs750579782 CA7027837 |
493 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs774934074 CA7027834 |
496 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762032608 CA7027835 |
496 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762032608 CA388580969 |
496 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388580956 rs1207284842 |
498 | I>V | No |
ClinGen TOPMed |
|
|
rs764626300 CA255275945 |
500 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764626300 CA7027833 |
500 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA255275935 rs369188126 |
501 | T>A | No |
ClinGen ESP TOPMed |
|
|
rs1350322113 CA388580928 |
502 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA7027832 rs372730032 |
503 | S>G | No |
ClinGen ESP ExAC TOPMed |
|
|
CA388580923 rs1396581669 |
503 | S>N | No |
ClinGen gnomAD |
|
|
rs776336107 CA7027831 |
504 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1381293270 CA388580917 |
504 | G>R | No |
ClinGen gnomAD |
|
|
rs770538977 CA7027830 |
507 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs770538977 CA388580895 |
507 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs992291983 CA255275906 |
509 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
CA7027829 rs8187832 |
509 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7027827 rs771918050 |
511 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747833343 CA7027826 |
513 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388580855 rs747833343 |
513 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 515 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388580816 rs1345524444 |
518 | Y>H | No |
ClinGen TOPMed |
|
| TCGA novel | 522 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs143400114 CA7027821 |
524 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143400114 CA7027820 |
524 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 525 | I>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs558945586 CA255275847 |
525 | I>T | No |
ClinGen Ensembl |
|
|
CA7027819 rs750680428 |
525 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs758790182 CA7027797 |
527 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs1238442169 CA388580738 |
527 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs758790182 CA388580737 |
527 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1416955419 CA388580721 |
530 | I>V | No |
ClinGen Ensembl |
|
|
rs1298081025 CA388580711 |
531 | S>N | No |
ClinGen gnomAD |
|
|
CA7027796 rs753273948 |
531 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1172103771 CA388580691 |
534 | E>G | No |
ClinGen gnomAD |
|
|
rs1481561687 CA388580682 |
535 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
rs749959739 CA7027793 |
536 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs749959739 CA7027794 |
536 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA388580672 rs1201356567 |
537 | P>L | No |
ClinGen gnomAD |
|
|
CA255275687 rs8187830 VAR_029324 |
537 | P>S | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA7027791 rs761412933 |
539 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7027790 rs773953527 |
541 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA7027789 rs768461696 |
542 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762678587 CA7027788 |
543 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs149183990 CA255275673 |
543 | F>V | No |
ClinGen ESP TOPMed |
|
|
CA7027787 rs372503504 |
544 | N>H | No |
ClinGen ESP ExAC |
|
|
CA7027786 rs199744465 |
544 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7027785 rs745802870 |
545 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs781175242 CA7027784 |
545 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388580615 rs1275058317 |
546 | F>C | No |
ClinGen gnomAD |
|
|
rs145351711 CA7027782 |
548 | L>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs113384238 CA255275643 |
553 | A>T | No |
ClinGen Ensembl |
|
|
CA388580567 rs1409921121 |
553 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7027780 rs758841105 COSM3417758 |
555 | T>A | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1462053778 CA388580548 |
556 | Y>C | No |
ClinGen TOPMed |
|
|
CA7027777 rs755489822 |
557 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs112021351 CA255275592 |
558 | V>A | No |
ClinGen Ensembl |
|
|
CA388580537 rs1363461286 |
558 | V>I | No |
ClinGen gnomAD |
|
|
rs766968617 CA7027775 |
561 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1287023772 CA388580497 |
562 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA388580489 rs1286473404 |
563 | D>N | No |
ClinGen gnomAD |
|
|
rs200602769 CA7027750 CA7027751 |
564 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA388580471 rs1406490318 |
565 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1437590904 CA388580459 |
567 | E>K | No |
ClinGen gnomAD |
|
|
CA388580434 rs1283238817 |
568 | V>G | No |
ClinGen TOPMed |
|
|
rs1178323450 CA388580441 |
568 | V>L | No |
ClinGen gnomAD |
|
|
CA7027748 rs759321801 |
570 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA388580394 rs1414445673 |
571 | F>L | No |
ClinGen gnomAD |
|
|
CA388580332 rs1353573293 |
576 | A>D | No |
ClinGen TOPMed |
|
|
CA7027747 rs113484071 |
577 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA388580306 rs1474293290 |
578 | T>R | No |
ClinGen gnomAD |
|
|
CA388580293 rs1275672978 |
579 | V>G | No |
ClinGen TOPMed |
|
|
CA388580284 rs868599124 |
580 | N>S | No |
ClinGen gnomAD |
|
|
CA255275318 rs868599124 |
580 | N>T | No |
ClinGen gnomAD |
|
|
rs1465938600 CA388580270 |
581 | M>T | No |
ClinGen gnomAD |
|
|
rs766408298 CA7027746 |
581 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1250769273 CA388580263 |
582 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA7027745 rs760679278 |
584 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA255275313 rs56120058 |
586 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs56120058 CA255275316 |
586 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1376121061 CA388580202 |
587 | Q>* | No |
ClinGen gnomAD |
|
|
rs748412712 CA7027742 |
588 | Y>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7027740 rs768914998 |
590 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA388580152 rs1368970516 |
591 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 591 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388580143 rs1274555633 |
592 | T>A | No |
ClinGen gnomAD |
|
|
CA388580145 rs1274555633 COSM432655 |
592 | T>S | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1437269641 CA388580124 |
593 | C>S | No |
ClinGen gnomAD |
|
|
rs573179959 CA255275274 |
594 | G>A | No |
ClinGen 1000Genomes |
|
|
rs887180807 CA255275272 |
595 | E>D | No |
ClinGen TOPMed |
|
|
rs780275601 CA7027738 |
595 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA388580084 rs1429170314 |
596 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs756670810 CA7027737 |
597 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA388580051 rs1465093486 |
600 | V>I | No |
ClinGen TOPMed |
|
|
rs140606428 CA7027736 |
601 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs752311525 CA7027733 |
604 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs764880757 CA7027732 |
605 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388579960 rs1205981870 |
607 | Y>* | No |
ClinGen gnomAD |
|
|
CA7027731 rs376980177 |
607 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1593976346 CA388579663 |
611 | P>S | No |
ClinGen Ensembl |
|
|
rs1434190158 CA388579655 |
612 | S>C | No |
ClinGen gnomAD |
|
|
rs1449489275 CA388579658 |
612 | S>P | No |
ClinGen TOPMed |
|
| TCGA novel | 613 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7027716 rs538328984 |
614 | M>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs867907311 CA255274608 |
615 | K>Q | No |
ClinGen Ensembl |
|
|
CA7027714 COSM168233 rs778277283 |
616 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA7027715 rs747762920 |
616 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1243900932 CA388579622 |
617 | V>A | No |
ClinGen TOPMed |
|
| TCGA novel | 619 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs543197693 CA7027712 |
621 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA255274604 rs543197693 |
621 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA255274602 rs868028003 |
622 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs868028003 CA388579589 |
622 | W>C | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 625 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755926443 CA7027710 |
626 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs555733955 CA255274590 |
626 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs767494827 CA7027708 |
627 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201545741 CA255274560 |
628 | V>G | No |
ClinGen Ensembl |
|
|
CA388579555 rs1360461862 |
629 | G>D | No |
ClinGen gnomAD |
|
|
CA388579549 rs1156583001 |
630 | N>T | No |
ClinGen gnomAD |
|
|
CA7027707 rs150580715 |
631 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA388579535 rs1412125149 |
632 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
CA388579534 rs1412125149 |
632 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA388579529 rs1210523222 |
633 | V>M | No |
ClinGen Ensembl |
|
|
CA388579509 rs1182739643 |
636 | V>A | No |
ClinGen gnomAD |
|
|
CA7027705 rs764058347 |
636 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs770163558 CA7027702 |
639 | A>S | No |
ClinGen ExAC |
|
|
CA7027701 rs531147633 |
640 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA388579486 rs531147633 |
640 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA388579402 rs1168283522 |
647 | A>V | No |
ClinGen gnomAD |
|
|
rs548069102 CA7027674 |
648 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA388579390 rs1197093493 |
649 | Y>C | No |
ClinGen gnomAD |
|
|
CA7027673 rs756958244 |
650 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1268100392 CA388579362 |
653 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs367590676 CA7027671 |
654 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367590676 CA7027670 |
654 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7027669 rs374410940 |
654 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs550282841 CA7027666 |
655 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7027662 rs367765684 |
659 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1301299894 CA388579311 |
662 | I>T | No |
ClinGen gnomAD |
|
|
rs762394824 CA7027661 |
664 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs144553892 CA7027660 |
665 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA388579274 rs1329332462 |
666 | M>I | No |
ClinGen gnomAD |
|
|
CA7027659 rs769397773 |
667 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA388579268 rs1308029934 |
667 | A>S | No |
ClinGen gnomAD |
|
|
CA388579259 rs769397773 |
667 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7027657 rs770769408 |
668 | R>P | No |
ClinGen ExAC TOPMed |
|
|
CA7027656 rs770769408 |
668 | R>Q | No |
ClinGen ExAC TOPMed |
|
|
CA7027658 rs548896011 |
668 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA255273574 rs768361843 |
669 | F>C | No |
ClinGen Ensembl |
|
|
CA7027655 rs746713486 |
669 | F>V | No |
ClinGen ExAC |
|
|
rs1465691369 CA388579213 |
671 | T>I | No |
ClinGen gnomAD |
|
|
rs552772082 CA7027650 |
676 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7027652 rs552772082 |
676 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7027651 rs552772082 COSM949163 |
676 | A>V | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA7027648 rs527441718 |
677 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 677 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767898905 CA7027645 |
680 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs897871360 CA255273498 |
680 | A>V | No |
ClinGen TOPMed |
|
|
rs1593975316 CA388579074 |
681 | Q>* | No |
ClinGen Ensembl |
|
|
rs1046126447 CA255273491 |
682 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA388579046 rs1368187511 |
683 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs368519321 CA7027643 |
687 | K>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs189869941 CA7027642 |
689 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs759054731 CA7027641 |
695 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA388578857 rs1566440508 |
700 | S>P | No |
ClinGen Ensembl |
|
|
rs760355895 CA7027638 |
701 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1249515090 CA388578842 |
702 | A>D | No |
ClinGen TOPMed |
|
| TCGA novel | 704 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA388578827 rs1174593644 |
704 | S>L | No |
ClinGen gnomAD |
|
|
CA388578795 rs1411375519 |
708 | M>I | No |
ClinGen TOPMed gnomAD |
No associated diseases with P46059
2 regional properties for P46059
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| conserved_site | PTR2 family proton/oligopeptide symporter, conserved site | 70 - 94 | IPR018456-1 |
| conserved_site | PTR2 family proton/oligopeptide symporter, conserved site | 163 - 175 | IPR018456-2 |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| apical plasma membrane | The region of the plasma membrane located at the apical end of the cell. |
| brush border | The dense covering of microvilli on the apical surface of an epithelial cell in tissues such as the intestine, kidney, and choroid plexus; the microvilli aid absorption by increasing the surface area of the cell. |
| 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| spanning component of membrane | The component of a membrane consisting of gene products and protein complexes that have some part that spans both leaflets of the membrane. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| dipeptide transmembrane transporter activity | Enables the transfer of a dipeptide from one side of a membrane to the other. A dipeptide is a combination of two amino acids linked together by a peptide (-CO-NH-) bond. |
| peptide:proton symporter activity | Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: peptide(out) + H+(out) = peptide(in) + H+(in), up its concentration gradient. The transporter binds the solute and undergoes a series of conformational changes. Transport works equally well in either direction and is driven by hydrogen ion movement. |
| proton-dependent oligopeptide secondary active transmembrane transporter activity | Enables the transfer of a oligopeptide from one side of a membrane to the other, up its concentration gradient. The transporter binds the solute and undergoes a series of conformational changes. Transport works equally well in either direction and is driven by proton movement. |
| tripeptide transmembrane transporter activity | Enables the transfer of a tripeptide, a compound containing three amino acids linked together by peptide bonds, from one side of a membrane to the other. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| dipeptide import across plasma membrane | The directed movement of a dipeptide from outside of a cell, across the plasma membrane and into the cytosol. |
| ion transport | The directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| protein transport | The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| tripeptide import across plasma membrane | The directed movement of a tripeptide from outside of a cell, across the plasma membrane and into the cytosol. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGMSKSHSFF | GYPLSIFFIV | VNEFCERFSY | YGMRAILILY | FTNFISWDDN | LSTAIYHTFV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ALCYLTPILG | ALIADSWLGK | FKTIVSLSIV | YTIGQAVTSV | SSINDLTDHN | HDGTPDSLPV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| HVVLSLIGLA | LIALGTGGIK | PCVSAFGGDQ | FEEGQEKQRN | RFFSIFYLAI | NAGSLLSTII |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TPMLRVQQCG | IHSKQACYPL | AFGVPAALMA | VALIVFVLGS | GMYKKFKPQG | NIMGKVAKCI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GFAIKNRFRH | RSKAFPKREH | WLDWAKEKYD | ERLISQIKMV | TRVMFLYIPL | PMFWALFDQQ |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GSRWTLQATT | MSGKIGALEI | QPDQMQTVNA | ILIVIMVPIF | DAVLYPLIAK | CGFNFTSLKK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| MAVGMVLASM | AFVVAAIVQV | EIDKTLPVFP | KGNEVQIKVL | NIGNNTMNIS | LPGEMVTLGP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| MSQTNAFMTF | DVNKLTRINI | SSPGSPVTAV | TDDFKQGQRH | TLLVWAPNHY | QVVKDGLNQK |
| 490 | 500 | 510 | 520 | 530 | 540 |
| PEKGENGIRF | VNTFNELITI | TMSGKVYANI | SSYNASTYQF | FPSGIKGFTI | SSTEIPPQCQ |
| 550 | 560 | 570 | 580 | 590 | 600 |
| PNFNTFYLEF | GSAYTYIVQR | KNDSCPEVKV | FEDISANTVN | MALQIPQYFL | LTCGEVVFSV |
| 610 | 620 | 630 | 640 | 650 | 660 |
| TGLEFSYSQA | PSNMKSVLQA | GWLLTVAVGN | IIVLIVAGAG | QFSKQWAEYI | LFAALLLVVC |
| 670 | 680 | 690 | 700 | ||
| VIFAIMARFY | TYINPAEIEA | QFDEDEKKNR | LEKSNPYFMS | GANSQKQM |