Q9P241
Gene name |
ATP10D |
Protein name |
Phospholipid-transporting ATPase VD |
Names |
ATPase class V type 10D, P4-ATPase flippase complex alpha subunit ATP10D |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:57205 |
EC number |
7.6.2.1: Linked to the hydrolysis of a nucleoside triphosphate |
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 Q9P241
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
AF-Q9P241-F1 | Predicted | AlphaFoldDB |
1161 variants for Q9P241
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
CA2908015 rs745570202 |
4 | A>T | No |
ClinGen ExAC gnomAD |
|
rs1577629046 CA356775858 |
5 | L>F | No |
ClinGen Ensembl |
|
CA2908016 rs199628718 |
6 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA96641883 rs199628718 |
6 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1212400672 CA356775870 |
7 | W>* | No |
ClinGen gnomAD |
|
rs763546918 CA2908018 |
7 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA356775907 rs1577629114 |
12 | W>R | No |
ClinGen Ensembl |
|
CA2908020 rs774800431 |
13 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs111932778 CA2908021 |
13 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2908023 rs750580060 |
14 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs767742740 CA2908022 |
14 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs1184942423 CA356775932 |
17 | R>G | No |
ClinGen gnomAD |
|
rs1299699640 CA356775934 |
17 | R>K | No |
ClinGen TOPMed |
|
rs766357970 CA2908025 |
18 | G>R | No |
ClinGen ExAC gnomAD |
|
rs1462262033 CA356775951 |
20 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
CA2908026 rs754017045 |
20 | T>I | No |
ClinGen ExAC gnomAD |
|
CA356775954 rs754017045 |
20 | T>S | No |
ClinGen ExAC gnomAD |
|
rs1344930454 CA356775995 |
26 | G>E | No |
ClinGen gnomAD |
|
CA2908029 rs375980643 |
27 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2908030 rs375980643 |
27 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA356776008 rs1379513033 |
28 | Y>* | No |
ClinGen gnomAD |
|
CA2908031 rs751316006 |
28 | Y>C | No |
ClinGen ExAC gnomAD |
|
CA2908032 rs757014021 |
29 | N>S | No |
ClinGen ExAC gnomAD |
|
CA2908035 rs138139630 |
30 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2908034 rs745489831 |
30 | Y>D | No |
ClinGen ExAC gnomAD |
|
CA96641978 rs745489831 |
30 | Y>H | No |
ClinGen ExAC gnomAD |
|
CA96641982 rs138139630 |
30 | Y>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
COSM1694334 CA96641985 rs772782452 |
31 | S>F | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
rs199950421 CA2908037 |
32 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA356776027 rs1163668388 |
32 | S>T | No |
ClinGen gnomAD |
|
rs199950421 CA96642006 |
32 | S>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA96642021 rs373598354 |
33 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs143618340 CA356776042 |
35 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs143618340 CA2908041 |
35 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA2908042 rs773685085 |
38 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs760805456 CA356776063 COSM243107 |
38 | R>H | lung Variant assessed as Somatic; 0.0 impact. prostate [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs760805456 CA2908043 |
38 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1399321730 CA356776075 |
40 | S>Y | No |
ClinGen gnomAD |
|
VAR_048385 CA2908045 rs33995001 |
43 | T>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2908048 rs765340052 |
44 | P>A | No |
ClinGen ExAC gnomAD |
|
CA2908047 rs765340052 |
44 | P>S | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 44 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA356776123 rs1278870211 |
48 | G>E | No |
ClinGen TOPMed gnomAD |
|
rs750234424 CA2908051 |
51 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2908050 rs202028690 |
51 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs916763878 CA96642060 |
52 | I>L | No |
ClinGen gnomAD |
|
CA2908052 rs755667737 |
55 | P>S | No |
ClinGen ExAC gnomAD |
|
CA356776170 rs1577629541 |
56 | H>P | No |
ClinGen Ensembl |
|
rs1254583453 CA356776169 |
56 | H>Y | No |
ClinGen TOPMed |
|
CA96642110 rs374344538 |
59 | P>S | No |
ClinGen ESP TOPMed |
|
rs778615439 CA2908056 |
61 | K>N | No |
ClinGen ExAC gnomAD |
|
CA2908058 rs772704541 |
62 | D>G | No |
ClinGen ExAC gnomAD |
|
CA96642118 rs533561156 |
62 | D>N | No |
ClinGen ExAC gnomAD |
|
CA2908057 rs533561156 |
62 | D>Y | No |
ClinGen ExAC gnomAD |
|
CA96642120 rs370135326 |
63 | E>K | No |
ClinGen ESP TOPMed |
|
rs1261383806 CA356776226 |
64 | Y>C | No |
ClinGen TOPMed |
|
CA2908059 rs773384255 |
65 | E>D | No |
ClinGen ExAC gnomAD |
|
COSM339826 rs1193451427 CA356776230 |
65 | E>K | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs1171298737 CA356776257 |
68 | S>C | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 69 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs776801919 CA2908062 COSM189856 |
69 | G>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs1327649319 CA356776265 |
70 | A>P | No |
ClinGen TOPMed gnomAD |
|
rs1327649319 CA356776264 |
70 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs759803259 CA2908063 |
70 | A>V | No |
ClinGen ExAC gnomAD |
|
CA96642185 rs898368908 |
71 | Y>C | No |
ClinGen TOPMed gnomAD |
|
CA2908065 rs775610558 |
72 | V>M | No |
ClinGen ExAC |
|
CA356776285 rs1297133400 |
73 | N>S | No |
ClinGen TOPMed |
|
CA356776289 rs1233057725 |
74 | N>H | No |
ClinGen Ensembl |
|
CA2908066 rs118048800 |
74 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA2908067 COSM1245681 rs373001297 |
75 | R>* | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
CA551149421 rs1560417089 |
75 | R>* | No |
ClinGen Ensembl |
|
COSM256370 CA2908068 rs750138858 |
75 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
CA356776304 rs1196433876 |
76 | I>M | No |
ClinGen gnomAD |
|
rs760552115 CA2908069 |
76 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs766319846 CA2908070 |
77 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA96642245 rs149671949 |
77 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA gnomAD |
CA2908072 rs754735402 |
78 | T>A | No |
ClinGen ExAC gnomAD |
|
rs1475707410 CA356776314 |
79 | T>A | No |
ClinGen TOPMed |
|
COSM1670997 rs908093392 CA96642258 |
81 | Y>S | breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
CA356776342 rs1187791331 |
83 | L>F | No |
ClinGen TOPMed gnomAD |
|
CA2908074 rs752261830 |
83 | L>R | No |
ClinGen ExAC gnomAD |
|
CA2908076 rs778373594 |
84 | L>P | No |
ClinGen ExAC gnomAD |
|
CA2908077 rs747510569 |
85 | N>D | No |
ClinGen ExAC gnomAD |
|
CA356776364 rs1326424708 |
87 | V>M | No |
ClinGen gnomAD |
|
CA2908079 rs534550458 |
92 | F>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA356776427 rs1438407498 |
95 | F>L | No |
ClinGen TOPMed gnomAD |
|
CA2908080 rs746082899 |
96 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2908081 rs746082899 |
96 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs967659275 CA356776435 |
97 | R>G | No |
ClinGen TOPMed gnomAD |
|
rs184019410 CA2908107 |
101 | L>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA356776600 rs1161214162 |
102 | Y>* | No |
ClinGen gnomAD |
|
rs893455576 CA96644130 |
103 | F>I | No |
ClinGen TOPMed |
|
TCGA novel | 103 | F>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA356776613 rs1452782300 |
105 | F>L | No |
ClinGen gnomAD |
|
TCGA novel | 106 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA2908110 rs763651667 |
107 | V>A | No |
ClinGen ExAC gnomAD |
|
CA2908111 rs371064535 |
108 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs757700600 CA2908112 |
110 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA356776654 rs1413024428 |
111 | W>* | No |
ClinGen gnomAD |
|
TCGA novel | 112 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs768032388 CA2908113 |
114 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1433029470 CA356776670 |
114 | L>V | No |
ClinGen gnomAD |
|
CA2908115 rs750749360 |
117 | A>T | No |
ClinGen ExAC gnomAD |
|
COSM1540335 CA356776694 rs1449420927 |
118 | F>L | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
CA356776703 rs1238757013 |
119 | Q>E | No |
ClinGen gnomAD |
|
TCGA novel | 121 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1472346066 CA356776736 |
123 | T>I | No |
ClinGen Ensembl |
|
rs1259285953 CA356776741 |
124 | M>V | No |
ClinGen gnomAD |
|
rs1350547704 CA356776754 |
125 | L>F | No |
ClinGen TOPMed gnomAD |
|
CA356776757 rs1211078299 |
126 | P>A | No |
ClinGen gnomAD |
|
CA356776767 rs1484397911 |
128 | V>L | No |
ClinGen gnomAD |
|
CA356776768 rs1484397911 |
128 | V>M | No |
ClinGen gnomAD |
|
CA356776772 rs1178498512 |
129 | V>M | No |
ClinGen TOPMed gnomAD |
|
rs566390429 CA2908118 |
132 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA356776797 rs1179603674 |
133 | I>V | No |
ClinGen gnomAD |
|
CA356776813 rs1174429574 |
135 | A>G | No |
ClinGen gnomAD |
|
CA2908120 rs755222321 |
135 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA356776821 rs1212960459 |
137 | K>Q | No |
ClinGen gnomAD |
|
CA356776825 rs1290706431 |
137 | K>T | No |
ClinGen TOPMed |
|
CA356776833 rs1375127841 COSM1642479 |
138 | D>G | stomach [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs1179841672 CA356776837 |
139 | G>S | No |
ClinGen Ensembl |
|
rs778984994 CA2908121 |
143 | Y>F | No |
ClinGen ExAC gnomAD |
|
rs770945581 CA2908123 |
144 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA2908122 rs748191553 |
144 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1373575522 CA356776883 |
146 | Y>H | No |
ClinGen gnomAD |
|
rs745848496 CA2908126 |
151 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2908127 rs1348991982 |
152 | I>N | No |
ClinGen TOPMed gnomAD |
|
CA356776931 rs1348991982 |
152 | I>T | No |
ClinGen TOPMed gnomAD |
|
CA356776929 rs1345346672 |
152 | I>V | No |
ClinGen gnomAD |
|
CA96644229 rs926064307 |
156 | I>V | No |
ClinGen Ensembl |
|
TCGA novel | 157 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA2908131 rs775214799 |
158 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA356776988 rs1560419071 |
160 | Y>* | No |
ClinGen Ensembl |
|
rs889046802 CA96644237 |
160 | Y>C | No |
ClinGen TOPMed gnomAD |
|
rs1428472104 CA356776994 |
161 | S>N | No |
ClinGen TOPMed |
|
rs558389505 CA2908160 |
163 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed |
|
TCGA novel | 164 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs773846255 CA2908161 |
164 | E>K | No |
ClinGen ExAC gnomAD |
|
CA356777441 rs1427076629 |
164 | E>V | No |
ClinGen TOPMed |
|
TCGA novel | 166 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1420625292 CA356777464 |
166 | K>T | No |
ClinGen gnomAD |
|
rs1164871207 CA356777492 |
168 | I>T | No |
ClinGen gnomAD |
|
rs1421944037 CA356777504 |
169 | D>G | No |
ClinGen TOPMed |
|
CA2908164 rs771557660 |
170 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2908165 rs74568336 |
170 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs7683838 VAR_048386 CA2908166 |
171 | C>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA356777517 rs7683838 |
171 | C>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs766813065 CA2908167 |
171 | C>Y | No |
ClinGen ExAC gnomAD |
|
rs765680826 CA2908170 |
175 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA356777567 rs1305498021 |
176 | T>A | No |
ClinGen TOPMed |
|
rs758757182 CA2908172 |
177 | V>A | No |
ClinGen ExAC gnomAD |
|
rs1371965807 CA356777588 |
179 | D>V | No |
ClinGen gnomAD |
|
CA2908174 rs200556408 |
182 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
RCV000975037 CA2908175 rs114311534 |
182 | R>H | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA96648951 rs182993483 |
184 | S>P | No |
ClinGen 1000Genomes |
|
TCGA novel | 185 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA2908176 rs779885363 |
185 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs749286393 CA356777634 |
186 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs376532237 CA2908179 |
187 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
rs371624169 CA2908178 |
187 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA356777640 rs1577642767 |
187 | E>V | No |
ClinGen Ensembl |
|
CA96648999 rs888485233 |
188 | V>L | No |
ClinGen TOPMed gnomAD |
|
rs1412336116 CA356777650 |
189 | I>N | No |
ClinGen gnomAD |
|
CA356777658 rs1402799834 |
190 | P>L | No |
ClinGen gnomAD |
|
rs1282955975 CA356777656 |
190 | P>S | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 191 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA96649017 rs761176128 |
193 | M>I | No |
ClinGen gnomAD |
|
CA96649012 rs776216011 |
193 | M>T | No |
ClinGen Ensembl |
|
rs1034594160 CA96649002 |
193 | M>V | No |
ClinGen Ensembl |
|
rs1314340108 CA356777694 |
194 | V>I | No |
ClinGen TOPMed gnomAD |
|
rs1314340108 CA356777697 |
194 | V>L | No |
ClinGen TOPMed gnomAD |
|
CA96649048 rs951143810 |
196 | L>F | No |
ClinGen TOPMed gnomAD |
|
rs1461890943 CA356777717 |
196 | L>H | No |
ClinGen Ensembl |
|
CA2908184 rs771431785 |
197 | F>S | No |
ClinGen ExAC gnomAD |
|
rs776974710 CA2908185 |
202 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 205 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs764970382 CA96649056 |
207 | I>T | No |
ClinGen TOPMed |
|
rs760145099 CA2908186 |
208 | E>G | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 212 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA96649072 rs200306183 |
212 | L>P | No |
ClinGen 1000Genomes |
|
CA2908188 rs753112385 |
213 | D>N | No |
ClinGen ExAC gnomAD |
|
rs1486032355 CA356777919 |
215 | E>K | No |
ClinGen gnomAD |
|
CA356777937 rs1236195378 |
216 | S>C | No |
ClinGen gnomAD |
|
CA2908190 rs764432218 |
220 | Q>H | No |
ClinGen ExAC gnomAD |
|
COSM309339 rs1205596215 CA356777991 |
221 | R>G | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
TCGA novel | 221 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1577642986 CA356778034 |
223 | V>G | No |
ClinGen Ensembl |
|
CA356778050 rs559976209 |
225 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs559976209 CA2908192 |
225 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs192815760 COSM1055707 CA96649097 |
225 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes NCI-TCGA TOPMed gnomAD |
CA96649107 rs912415432 |
226 | G>E | No |
ClinGen gnomAD |
|
CA356778084 rs1390109385 |
228 | A>V | No |
ClinGen TOPMed |
|
rs1309088477 CA356778099 |
230 | Q>E | No |
ClinGen TOPMed |
|
CA356778140 rs1195896394 |
234 | V>F | No |
ClinGen TOPMed |
|
CA2908216 rs754814555 |
235 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2908217 rs765186564 |
237 | E>D | No |
ClinGen ExAC gnomAD |
|
CA356778168 rs1232753927 |
238 | K>E | No |
ClinGen gnomAD |
|
rs140687448 CA2908218 |
238 | K>T | No |
ClinGen ESP ExAC gnomAD |
|
CA96650896 rs998690829 |
241 | S>G | No |
ClinGen gnomAD |
|
rs1341549219 CA356778211 |
244 | E>A | No |
ClinGen gnomAD |
|
rs889975234 CA96650916 |
247 | S>R | No |
ClinGen gnomAD |
|
TCGA novel | 248 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA2908220 rs144361524 |
249 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA356778259 rs1456863048 |
250 | N>K | No |
ClinGen gnomAD |
|
CA2908221 rs746635713 |
251 | D>A | No |
ClinGen ExAC gnomAD |
|
rs756936486 CA2908222 |
253 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2908223 rs780506636 |
253 | S>R | No |
ClinGen ExAC gnomAD |
|
COSM1055708 CA356778295 rs1243544755 |
256 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
rs201697796 COSM4005773 CA2908224 |
256 | R>Q | urinary_tract [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
TCGA novel | 261 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs773456330 CA96656562 |
263 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1438148196 CA356778475 |
263 | N>K | No |
ClinGen TOPMed gnomAD |
|
CA2908250 rs773456330 |
263 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs200864587 CA2908251 |
264 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA2908253 rs776693676 |
265 | E>K | No |
ClinGen ExAC gnomAD |
|
CA2908254 rs762815957 |
266 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs146578598 CA2908255 COSM1660676 |
266 | R>H | kidney [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
rs146578598 CA96656587 |
266 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM1540333 CA356778494 rs185611178 CA2908257 |
267 | V>L | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
CA2908258 rs185611178 |
267 | V>M | Variant assessed as Somatic; 0.001435 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
CA2908259 rs750075191 |
268 | G>C | No |
ClinGen ExAC gnomAD |
|
rs750075191 CA2908260 |
268 | G>S | No |
ClinGen ExAC gnomAD |
|
rs561198097 CA2908261 |
269 | L>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA2908262 rs753412403 |
271 | K>E | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 272 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA96656617 rs528576045 |
272 | E>Q | No |
ClinGen 1000Genomes TOPMed |
|
rs370605939 CA96656624 |
279 | C>S | No |
ClinGen ESP TOPMed gnomAD |
|
rs201934143 CA2908264 |
281 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA356778589 rs1461129473 |
282 | R>* | No |
ClinGen TOPMed gnomAD |
|
CA356778600 rs1560430191 |
283 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
rs760633635 CA2908265 |
284 | T>K | No |
ClinGen ExAC gnomAD |
|
rs760633635 CA2908266 |
284 | T>R | No |
ClinGen ExAC gnomAD |
|
rs374631722 CA96656627 |
284 | T>S | No |
ClinGen ESP |
|
CA2908267 rs76089900 |
287 | V>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA356778621 rs1336662697 |
287 | V>I | No |
ClinGen gnomAD |
|
rs890727519 CA96656639 |
289 | G>V | No |
ClinGen TOPMed gnomAD |
|
CA356778638 rs747164353 |
290 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2908268 rs747164353 |
290 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA356778637 rs747164353 |
290 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2908269 rs200685217 |
291 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs776638541 CA2908270 |
292 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs776638541 CA356778652 |
292 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA356778648 rs1254868676 |
292 | V>I | No |
ClinGen gnomAD |
|
rs1398177093 CA356778665 |
294 | A>V | No |
ClinGen Ensembl |
|
rs757426388 CA2908288 |
295 | G>A | No |
ClinGen ExAC gnomAD |
|
CA2908289 rs201618087 |
296 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1397067052 CA356778704 |
298 | T>I | No |
ClinGen gnomAD |
|
COSM1429866 rs775497302 CA2908292 |
304 | N>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs372137686 CA2908294 |
305 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA96656712 rs372137686 |
305 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1295613825 CA356778754 |
306 | G>R | No |
ClinGen gnomAD |
|
rs766321491 CA2908297 |
308 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA2908295 rs773093019 |
308 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs900203773 CA96656720 |
309 | Y>* | No |
ClinGen Ensembl |
|
CA2908298 rs138739908 |
311 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs759172595 COSM268724 CA2908299 |
311 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs1319260001 CA356778789 |
312 | S>G | No |
ClinGen TOPMed |
|
rs764802901 CA2908300 |
316 | R>K | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 318 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1188541967 CA356778841 |
319 | N>D | No |
ClinGen gnomAD |
|
CA2908302 VAR_048387 rs35596623 |
320 | T>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2908303 rs35596623 |
320 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs757594467 CA2908305 |
324 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs757594467 CA356778877 |
324 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1375049585 CA356778884 |
325 | C>F | No |
ClinGen gnomAD |
|
rs781594438 CA2908306 |
325 | C>W | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 326 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs746096825 CA2908307 |
326 | V>F | No |
ClinGen ExAC gnomAD |
|
CA96656747 rs1009918347 |
327 | M>I | No |
ClinGen gnomAD |
|
CA356778909 rs1275668699 |
329 | L>P | No |
ClinGen TOPMed |
|
CA2908308 rs756292540 |
330 | V>D | No |
ClinGen ExAC gnomAD |
|
CA356778920 rs1359279094 |
331 | I>T | No |
ClinGen gnomAD |
|
CA356778931 rs1295045253 |
332 | M>I | No |
ClinGen gnomAD |
|
rs1333506681 CA356778927 |
332 | M>T | No |
ClinGen TOPMed |
|
rs35012290 CA2908313 |
337 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
VAR_048388 rs35012290 CA2908312 |
337 | A>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs766733094 CA96656763 |
339 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs766733094 CA2908314 |
339 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA356778987 rs1223958103 |
340 | H>N | No |
ClinGen TOPMed |
|
CA2908330 rs755089954 |
343 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs755089954 CA2908329 |
343 | W>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs770999094 CA2908332 |
344 | L>Q | No |
ClinGen ExAC gnomAD |
|
CA2908331 rs139274170 |
344 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs769666688 CA2908335 |
349 | K>N | No |
ClinGen ExAC gnomAD |
|
rs745700006 CA2908334 |
349 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA356779057 rs1379278368 |
350 | M>K | No |
ClinGen gnomAD |
|
CA356779054 rs1279903519 |
350 | M>V | No |
ClinGen TOPMed |
|
rs372209013 CA2908336 |
352 | F>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
TCGA novel | 353 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1173867819 CA356779086 |
354 | N>D | No |
ClinGen gnomAD |
|
rs911237323 | 354 | N>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
CA2908339 rs375885788 |
354 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
CA2908338 rs375885788 |
354 | N>T | No |
ClinGen ESP ExAC gnomAD |
|
CA2908340 rs368872869 |
355 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1458995636 CA356779097 |
356 | P>S | No |
ClinGen TOPMed |
|
rs1027687734 CA96656966 |
357 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA356779103 rs1027687734 |
357 | E>Q | No |
ClinGen TOPMed gnomAD |
|
CA356779114 rs1170617893 |
358 | P>L | No |
ClinGen TOPMed |
|
rs574679729 CA2908342 |
359 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1432966142 CA356779129 |
361 | H>D | No |
ClinGen TOPMed |
|
rs766816894 CA2908344 |
361 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA96656977 rs866399116 |
362 | I>L | No |
ClinGen Ensembl |
|
CA356779153 rs1277082849 |
364 | S>L | No |
ClinGen gnomAD |
|
CA96656985 rs966118368 |
366 | L>Q | No |
ClinGen Ensembl |
|
CA2908346 rs755322897 |
367 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2908347 rs550923470 |
369 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA2908348 rs550923470 |
369 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1195098453 CA356779189 |
371 | Y>H | No |
ClinGen gnomAD |
|
rs1170351123 CA356779203 |
372 | M>I | No |
ClinGen gnomAD |
|
CA356779199 rs373358503 |
372 | M>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs373358503 CA2908349 |
372 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1246997944 CA356779197 |
372 | M>V | No |
ClinGen gnomAD |
|
rs780956265 CA2908350 |
373 | F>L | No |
ClinGen ExAC gnomAD |
|
CA356779221 rs1466037390 |
375 | T>A | No |
ClinGen gnomAD |
|
rs1169874854 CA356779224 |
375 | T>S | No |
ClinGen gnomAD |
|
TCGA novel | 376 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs745864353 CA2908351 |
376 | M>V | No |
ClinGen ExAC gnomAD |
|
CA356779236 rs1462868585 |
377 | I>V | No |
ClinGen gnomAD |
|
CA96657004 rs964240618 |
378 | I>F | No |
ClinGen TOPMed gnomAD |
|
CA356779242 rs964240618 |
378 | I>V | No |
ClinGen TOPMed gnomAD |
|
rs1331940936 CA356779252 |
379 | L>F | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 382 | V>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
COSM84855 CA356779302 rs1215309523 |
385 | P>S | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
CA2908368 rs758527471 |
386 | I>S | No |
ClinGen ExAC gnomAD |
|
CA2908367 rs753004084 |
386 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs1381325935 CA356779317 |
387 | S>F | No |
ClinGen TOPMed gnomAD |
|
rs779845954 CA96657073 |
388 | L>V | No |
ClinGen TOPMed gnomAD |
|
rs138737356 CA2908373 |
389 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA2908371 rs764289473 |
389 | Y>H | No |
ClinGen ExAC gnomAD |
|
rs138737356 CA2908372 |
389 | Y>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA356779341 rs1297607731 |
392 | I>V | No |
ClinGen gnomAD |
|
COSM1429868 CA2908376 rs754586853 |
393 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs1310439721 CA356779350 |
393 | E>V | No |
ClinGen gnomAD |
|
CA356779367 rs1335464122 |
396 | K>Q | No |
ClinGen gnomAD |
|
rs778507335 CA2908377 |
398 | G>V | No |
ClinGen ExAC gnomAD |
|
CA2908378 rs747849029 |
400 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1378404086 CA356779399 |
400 | I>T | No |
ClinGen TOPMed |
|
rs1354032805 CA356779404 |
401 | Y>C | No |
ClinGen TOPMed gnomAD |
|
rs771471852 CA2908379 |
401 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2908380 rs772847899 |
403 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs747410568 CA2908381 |
404 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA356779447 rs1255469089 |
407 | V>M | No |
ClinGen gnomAD |
|
CA356779452 rs1486211873 |
408 | D>H | No |
ClinGen gnomAD |
|
rs1056790780 CA96657099 |
408 | D>V | No |
ClinGen TOPMed gnomAD |
|
CA96657106 rs995865598 |
411 | N>D | No |
ClinGen Ensembl |
|
rs371554019 CA2908382 |
411 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
TCGA novel | 412 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA2908383 rs200956632 |
412 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs759945258 CA2908384 |
413 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2908385 rs765741714 |
413 | K>R | No |
ClinGen ExAC gnomAD |
|
CA96657116 rs147390403 |
414 | M>I | No |
ClinGen 1000Genomes |
|
TCGA novel | 414 | M>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA356779501 rs1173662457 |
415 | D>N | No |
ClinGen gnomAD |
|
rs1402165168 CA356779512 |
416 | S>Y | No |
ClinGen TOPMed gnomAD |
|
rs1333730208 CA356779519 |
417 | I>T | No |
ClinGen gnomAD |
|
CA2908386 rs775839118 |
417 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA2908387 rs200358319 |
419 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs764011636 CA2908388 |
420 | C>G | No |
ClinGen ExAC gnomAD |
|
rs751670908 CA2908390 |
421 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2908391 rs376991791 |
421 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
rs776065711 CA96657137 |
425 | I>T | No |
ClinGen TOPMed |
|
rs778738719 CA2908395 |
427 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 429 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA2908396 rs747797887 |
430 | G>E | No |
ClinGen ExAC gnomAD |
|
rs1238492373 CA356779603 |
431 | Q>P | No |
ClinGen gnomAD |
|
rs1236647760 CA356779633 |
435 | L>H | No |
ClinGen gnomAD |
|
TCGA novel | 435 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA2908397 rs150738679 |
435 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
CA356779640 rs1317934441 |
436 | F>S | No |
ClinGen gnomAD |
|
rs777093283 CA2908398 |
437 | S>F | No |
ClinGen ExAC gnomAD |
|
CA2908400 rs770384605 |
438 | D>N | No |
ClinGen ExAC gnomAD |
|
CA2908402 rs746432231 |
439 | K>E | No |
ClinGen ExAC gnomAD |
|
rs1401467288 CA356779659 |
439 | K>R | No |
ClinGen gnomAD |
|
rs1465497193 CA356779668 |
440 | T>I | No |
ClinGen gnomAD |
|
rs1369347220 CA356779679 |
442 | T>N | No |
ClinGen gnomAD |
|
CA2908405 rs370204271 |
443 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
CA2908406 rs768945023 |
449 | V>I | No |
ClinGen ExAC gnomAD |
|
CA2908407 rs375420700 |
451 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2908408 rs375420700 |
451 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs149876632 CA2908409 |
451 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
TCGA novel | 451 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1196566227 CA356779756 |
454 | S>G | No |
ClinGen gnomAD |
|
TCGA novel | 456 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA2908412 rs764948670 |
457 | G>E | No |
ClinGen ExAC gnomAD |
|
CA2908414 rs146396794 |
459 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA96657191 rs974834968 |
461 | C>F | No |
ClinGen gnomAD |
|
CA356779815 rs1479504628 |
462 | H>P | No |
ClinGen gnomAD |
|
CA356779817 rs1196465984 |
462 | H>Q | No |
ClinGen TOPMed gnomAD |
|
CA356779813 rs1479504628 |
462 | H>R | No |
ClinGen gnomAD |
|
CA356779826 rs1262155234 |
464 | E>K | No |
ClinGen TOPMed |
|
rs1029604668 CA96657194 |
466 | A>S | No |
ClinGen Ensembl |
|
CA356806207 rs1264025199 |
467 | R>G | No |
ClinGen gnomAD |
|
rs915869872 CA96630890 |
467 | R>K | No |
ClinGen TOPMed |
|
rs139734817 CA2908428 |
467 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1185295382 CA356806216 |
468 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs551719524 CA2908429 |
472 | Y>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs765184948 CA356806250 |
473 | Q>P | No |
ClinGen ExAC gnomAD |
|
CA2908430 rs765184948 |
473 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs752397590 CA2908431 |
476 | V>I | No |
ClinGen ExAC gnomAD |
|
rs371369194 CA356806290 |
479 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1298216696 CA356806288 |
479 | D>H | No |
ClinGen gnomAD |
|
rs371369194 CA2908432 |
479 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2908437 rs570265180 |
485 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs570265180 CA2908438 |
485 | T>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA2908436 rs756861927 |
485 | T>P | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 487 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs756648919 CA2908439 |
488 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1455829097 CA356806369 |
491 | S>G | No |
ClinGen TOPMed |
|
rs749809273 CA2908441 |
491 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2908442 rs769051611 |
492 | N>S | No |
ClinGen ExAC gnomAD |
|
CA2908443 rs201342683 |
496 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA356806409 rs201342683 |
496 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA356806407 rs1178198907 |
496 | P>S | No |
ClinGen TOPMed |
|
CA2908445 rs772297522 |
497 | R>G | No |
ClinGen ExAC gnomAD |
|
CA356806412 rs1379092582 |
497 | R>T | No |
ClinGen gnomAD |
|
CA96630971 rs946132651 |
498 | A>S | No |
ClinGen TOPMed gnomAD |
|
COSM189866 CA356806416 rs946132651 |
498 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
CA356806426 rs1359722592 |
499 | P>L | No |
ClinGen gnomAD |
|
CA356806425 rs1359722592 |
499 | P>R | No |
ClinGen gnomAD |
|
CA356806428 COSM1055715 rs1300826153 |
500 | S>G | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
rs1300826153 CA356806427 |
500 | S>R | No |
ClinGen TOPMed gnomAD |
|
rs771042542 CA2908448 |
501 | C>Y | No |
ClinGen ExAC gnomAD |
|
CA356806442 rs1449205291 |
502 | R>G | No |
ClinGen gnomAD |
|
rs368473880 CA2908449 |
502 | R>K | No |
ClinGen ESP ExAC gnomAD |
|
rs1376252114 CA356806449 |
503 | T>A | No |
ClinGen gnomAD |
|
rs1222175179 CA356806451 |
503 | T>K | No |
ClinGen gnomAD |
|
CA356806456 rs1336984892 |
504 | V>F | No |
ClinGen TOPMed gnomAD |
|
rs1336984892 CA356806455 |
504 | V>L | No |
ClinGen TOPMed gnomAD |
|
rs762862117 CA2908450 |
505 | H>L | No |
ClinGen ExAC gnomAD |
|
rs935415055 CA96631001 COSM1694338 |
505 | H>Y | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
CA356806466 rs375658947 |
506 | N>H | No |
ClinGen ESP TOPMed gnomAD |
|
TCGA novel | 506 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1238886179 CA356806469 |
506 | N>S | No |
ClinGen TOPMed |
|
rs375658947 CA96631013 |
506 | N>Y | No |
ClinGen ESP TOPMed gnomAD |
|
CA2908452 rs763879616 |
507 | G>E | No |
ClinGen ExAC gnomAD |
|
rs763879616 CA2908451 |
507 | G>V | No |
ClinGen ExAC gnomAD |
|
CA2908454 rs767308709 |
508 | P>S | No |
ClinGen ExAC gnomAD |
|
CA356806486 rs1237258989 |
509 | L>W | No |
ClinGen gnomAD |
|
VAR_048389 rs10003238 CA2908455 |
511 | N>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA356806505 rs1192378861 |
512 | K>T | No |
ClinGen gnomAD |
|
CA2908457 rs766044821 |
513 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs755662432 CA2908456 |
513 | P>T | No |
ClinGen ExAC gnomAD |
|
rs1402184760 CA356806522 |
515 | N>Y | No |
ClinGen gnomAD |
|
rs754366272 CA2908458 |
516 | H>R | No |
ClinGen ExAC gnomAD |
|
CA356806539 rs1332265720 |
517 | L>P | No |
ClinGen gnomAD |
|
rs1335445003 CA356806541 |
518 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs779280395 CA2908460 |
519 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1368400035 CA356806558 |
520 | S>R | No |
ClinGen gnomAD |
|
VAR_048390 CA2908461 rs6843325 |
522 | F>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA356806577 rs1281995538 |
523 | T>N | No |
ClinGen gnomAD |
|
rs979088273 CA96631052 |
524 | L>V | No |
ClinGen gnomAD |
|
CA356806596 rs1199716855 |
526 | S>R | No |
ClinGen gnomAD |
|
rs1158341472 CA356806597 |
527 | G>R | No |
ClinGen TOPMed |
|
rs200261195 CA2908462 |
529 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs777944967 CA2908463 |
531 | S>T | No |
ClinGen ExAC gnomAD |
|
rs750911845 CA96631072 |
533 | V>M | No |
ClinGen Ensembl |
|
rs1031184882 CA96631073 |
534 | P>L | No |
ClinGen TOPMed |
|
CA356806651 rs1477444082 |
535 | H>L | No |
ClinGen gnomAD |
|
CA356806679 rs1197190099 |
539 | A>V | No |
ClinGen gnomAD |
|
CA2908465 rs770991094 |
540 | A>S | No |
ClinGen ExAC gnomAD |
|
rs1050646175 CA96631079 |
541 | F>L | No |
ClinGen TOPMed |
|
CA356806696 rs1478011275 |
542 | S>G | No |
ClinGen gnomAD |
|
rs1472485037 CA356806697 |
542 | S>N | No |
ClinGen TOPMed |
|
CA2908466 rs776575392 |
543 | S>N | No |
ClinGen ExAC gnomAD |
|
rs1256745206 CA356806711 |
544 | P>S | No |
ClinGen TOPMed |
|
rs201603122 CA2908467 |
545 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA2908489 rs773146199 |
547 | T>A | No |
ClinGen ExAC gnomAD |
|
rs1329834300 CA356806986 |
547 | T>R | No |
ClinGen Ensembl |
|
CA2908491 rs187144508 |
549 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA2908493 rs545511405 |
553 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
TCGA novel | 555 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs557426590 CA2908494 |
557 | D>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs557426590 CA2908495 |
557 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1161921828 CA356807057 |
558 | K>I | No |
ClinGen gnomAD |
|
rs1420461014 CA356807070 |
560 | S>G | No |
ClinGen TOPMed gnomAD |
|
rs1158468055 CA356807071 |
560 | S>T | No |
ClinGen gnomAD |
|
rs764382228 CA2908497 |
562 | I>S | No |
ClinGen ExAC gnomAD |
|
rs751940328 CA356807094 |
563 | T>I | No |
ClinGen ExAC gnomAD |
|
rs751940328 CA2908498 |
563 | T>R | No |
ClinGen ExAC gnomAD |
|
rs781238830 CA2908501 COSM587404 |
565 | R>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs781238830 CA2908500 |
565 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2908499 rs757458517 |
565 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA356807106 rs1258869423 |
566 | L>H | No |
ClinGen gnomAD |
|
CA356807123 rs1216481372 |
568 | M>I | No |
ClinGen TOPMed gnomAD |
|
rs1200969926 CA356807153 |
573 | T>P | No |
ClinGen gnomAD |
|
CA2908502 rs369919671 |
579 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA356807206 rs1577678685 |
580 | E>G | No |
ClinGen Ensembl |
|
CA96634934 rs575685869 |
582 | L>S | No |
ClinGen 1000Genomes gnomAD |
|
CA356807217 rs1181976647 |
582 | L>V | No |
ClinGen gnomAD |
|
CA356807224 rs1337806910 |
583 | Y>D | No |
ClinGen TOPMed |
|
rs748032488 CA2908504 |
584 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2908503 rs142365853 |
584 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA96634962 rs200334720 |
585 | I>T | No |
ClinGen gnomAD |
|
CA356807236 rs1560441760 COSM587403 |
585 | I>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
rs377124199 CA356807247 |
586 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA2908506 COSM279042 rs561130132 |
586 | D>N | lung Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
CA356807251 rs1463340200 |
587 | F>Y | No |
ClinGen TOPMed |
|
CA356807265 rs1332916523 |
589 | I>V | No |
ClinGen gnomAD |
|
rs1170208436 CA356807291 |
593 | I>V | No |
ClinGen TOPMed |
|
rs759295483 CA2908510 |
596 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs1233865444 CA356807318 |
597 | V>I | No |
ClinGen gnomAD |
|
CA356807324 rs1321114603 |
598 | V>M | No |
ClinGen gnomAD |
|
CA2908512 rs774990884 |
599 | V>A | No |
ClinGen ExAC gnomAD |
|
rs140450965 CA356807342 |
601 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA2908513 rs140450965 |
601 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 601 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1195444237 CA356807351 |
602 | P>L | No |
ClinGen gnomAD |
|
rs1435036339 CA356807354 |
603 | N>D | No |
ClinGen gnomAD |
|
rs1200193047 CA356807356 |
603 | N>S | No |
ClinGen gnomAD |
|
CA96634982 rs988706879 |
604 | Q>E | No |
ClinGen TOPMed gnomAD |
|
rs1469634346 CA356807371 |
605 | P>L | No |
ClinGen TOPMed |
|
rs201010617 CA2908514 |
606 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs369968292 CA2908515 |
606 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs183792861 CA96634990 |
608 | K>R | No |
ClinGen 1000Genomes |
|
rs769505364 CA2908528 |
610 | R>G | No |
ClinGen ExAC gnomAD |
|
rs1187065212 CA356807409 COSM1055717 |
610 | R>K | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
rs774937862 CA2908529 |
611 | H>Q | No |
ClinGen ExAC gnomAD |
|
CA96636152 rs894272887 |
612 | P>S | No |
ClinGen Ensembl |
|
CA356807437 rs1401699385 |
615 | G>E | No |
ClinGen gnomAD |
|
CA2908532 CA2908534 rs374331628 |
615 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs374331628 CA2908533 |
615 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA356807443 rs1296683648 |
616 | G>V | No |
ClinGen TOPMed |
|
CA96636188 rs949177657 |
616 | G>W | No |
ClinGen TOPMed gnomAD |
|
CA356807451 rs1293671072 |
617 | L>F | No |
ClinGen gnomAD |
|
TCGA novel | 620 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1225860607 CA356807487 |
623 | E>Q | No |
ClinGen TOPMed |
|
CA2908536 rs773640259 |
624 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1577681490 CA356807496 |
624 | E>Q | No |
ClinGen Ensembl |
|
rs760760650 CA2908537 |
625 | I>V | No |
ClinGen ExAC gnomAD |
|
rs766741560 CA2908538 |
626 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 629 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA2908539 rs754142382 |
631 | R>G | No |
ClinGen ExAC gnomAD |
|
rs1385811209 CA356807545 |
631 | R>K | No |
ClinGen TOPMed |
|
CA2908540 rs777603269 |
635 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2908541 rs777603269 |
635 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs202127870 CA2908542 |
635 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2908543 rs150390133 |
636 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA356807580 rs1167159200 |
637 | S>P | No |
ClinGen TOPMed |
|
CA2908544 rs780831455 |
638 | S>G | No |
ClinGen ExAC gnomAD |
|
CA356807587 rs1451745473 |
638 | S>N | No |
ClinGen TOPMed |
|
rs552234860 CA2908545 |
640 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA2908546 rs755937043 |
641 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2908548 rs377407484 |
642 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2908549 rs768089566 |
642 | L>P | No |
ClinGen ExAC gnomAD |
|
rs773977729 CA2908550 |
643 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA356807626 rs1451571014 |
644 | S>R | No |
ClinGen gnomAD |
|
CA96636308 rs1006327870 |
648 | P>S | No |
ClinGen Ensembl |
|
CA2908552 rs772682363 |
651 | G>R | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 653 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA96636315 rs111616775 |
654 | N>D | No |
ClinGen TOPMed gnomAD |
|
CA2908554 rs768333726 |
655 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA356807708 rs1285076156 |
657 | V>G | No |
ClinGen gnomAD |
|
rs1316807130 CA356807712 |
658 | S>G | No |
ClinGen gnomAD |
|
rs1214277373 CA356807720 |
659 | R>K | No |
ClinGen gnomAD |
|
rs1214277373 CA356807721 |
659 | R>T | No |
ClinGen gnomAD |
|
rs1344047708 CA356807729 |
660 | L>P | No |
ClinGen TOPMed |
|
CA2908556 rs373967400 |
661 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2908557 rs373967400 |
661 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2908558 rs765398868 |
662 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA356807739 rs1240935472 |
662 | L>R | No |
ClinGen gnomAD |
|
rs142235555 CA96636348 |
665 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2908560 rs146116655 |
665 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
COSM3696794 CA2908561 rs146116655 |
665 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
rs1349287195 CA356807759 |
666 | M>V | No |
ClinGen TOPMed |
|
rs374215434 CA2908565 |
668 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
CA2908564 rs374215434 |
668 | P>Q | No |
ClinGen ESP ExAC gnomAD |
|
rs1432092677 CA356807780 |
669 | A>P | No |
ClinGen TOPMed |
|
TCGA novel | 669 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 670 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA2908566 rs187355739 |
671 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA2908567 rs187355739 |
671 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs558782821 CA96636386 |
672 | V>A | No |
ClinGen TOPMed |
|
rs1404114541 CA356807795 |
672 | V>M | No |
ClinGen gnomAD |
|
CA356807811 rs1199731546 |
674 | E>A | No |
ClinGen TOPMed |
|
CA2908569 rs778264598 |
676 | V>I | No |
ClinGen ExAC gnomAD |
|
rs1372712477 CA356807831 |
677 | S>P | No |
ClinGen gnomAD |
|
TCGA novel | 678 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA356807855 rs1560443768 |
680 | C>W | No |
ClinGen Ensembl |
|
rs201572653 CA96636434 |
680 | C>Y | No |
ClinGen TOPMed gnomAD |
|
rs1447271327 CA356807862 |
681 | E>D | No |
ClinGen gnomAD |
|
TCGA novel | 682 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA2908571 rs149296162 |
682 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA2908572 rs199600119 |
683 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA356807883 rs1446301761 |
684 | Q>H | No |
ClinGen Ensembl |
|
TCGA novel | 684 | Q>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs771352321 CA2908574 |
686 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2908575 rs777199623 |
687 | S>G | No |
ClinGen ExAC gnomAD |
|
rs759814894 CA2908576 |
687 | S>N | No |
ClinGen ExAC gnomAD |
|
CA2908577 rs770185124 |
691 | C>R | No |
ClinGen ExAC gnomAD |
|
rs775609445 CA2908578 |
692 | C>W | No |
ClinGen ExAC gnomAD |
|
rs763041773 CA2908579 |
694 | E>D | No |
ClinGen ExAC gnomAD |
|
rs1173935058 CA356807962 |
696 | E>D | No |
ClinGen gnomAD |
|
TCGA novel | 697 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs568662009 CA2908581 |
698 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs568662009 CA2908582 |
698 | Q>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1257420954 CA356807975 |
698 | Q>R | No |
ClinGen TOPMed |
|
CA96636472 rs968849661 |
699 | H>R | No |
ClinGen TOPMed gnomAD |
|
CA356807980 rs1329856036 |
699 | H>Y | No |
ClinGen TOPMed gnomAD |
|
CA96636477 rs977212677 |
700 | G>S | No |
ClinGen TOPMed gnomAD |
|
CA96636479 rs924239323 |
701 | D>A | No |
ClinGen Ensembl |
|
CA2908584 rs753682058 |
702 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs201846331 CA2908585 |
703 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs201846331 CA2908586 |
703 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs201846331 CA356808005 |
703 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA96636500 rs959700331 |
704 | L>F | No |
ClinGen Ensembl |
|
rs752313490 CA2908587 |
704 | L>H | No |
ClinGen ExAC gnomAD |
|
CA96636512 rs990505011 |
707 | G>D | No |
ClinGen TOPMed gnomAD |
|
CA2908588 rs200916542 |
707 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA96636515 rs992491743 |
709 | A>T | No |
ClinGen TOPMed |
|
rs1223062898 CA356808042 |
710 | E>K | No |
ClinGen gnomAD |
|
rs1223062898 CA356808040 |
710 | E>Q | No |
ClinGen gnomAD |
|
TCGA novel | 711 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
COSM734317 CA2908589 rs143517951 |
711 | S>F | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
rs1577682031 CA356808058 |
712 | L>P | No |
ClinGen Ensembl |
|
CA2908590 rs147997626 |
715 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA356808078 rs34208443 |
716 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA2908592 rs781668803 COSM339172 |
716 | P>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
VAR_048391 rs34208443 CA2908591 |
716 | P>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1328359352 CA356808085 |
717 | L>S | No |
ClinGen gnomAD |
|
rs555216718 CA96636536 |
719 | C>R | No |
ClinGen Ensembl |
|
VAR_048392 rs34169638 CA2908593 |
720 | N>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1168683708 CA356808110 |
721 | L>V | No |
ClinGen gnomAD |
|
rs369950538 CA96636541 |
724 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA356808130 rs1419141118 |
724 | E>K | No |
ClinGen gnomAD |
|
rs909732631 CA356808143 |
726 | E>K | No |
ClinGen TOPMed gnomAD |
|
rs909732631 CA96636553 |
726 | E>Q | No |
ClinGen TOPMed gnomAD |
|
rs936551540 CA96636554 |
727 | S>N | No |
ClinGen TOPMed gnomAD |
|
rs139768206 CA2908598 |
730 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA96636559 rs112408159 |
731 | A>T | No |
ClinGen Ensembl |
|
rs371299383 CA2908599 |
731 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
rs753802742 CA2908601 |
733 | L>F | No |
ClinGen ExAC gnomAD |
|
CA356808196 rs1266937748 |
734 | V>L | No |
ClinGen TOPMed gnomAD |
|
rs1266937748 CA356808194 |
734 | V>M | No |
ClinGen TOPMed gnomAD |
|
CA356808204 rs1342640224 |
735 | Y>C | No |
ClinGen TOPMed |
|
rs932629300 CA96636563 |
736 | A>V | No |
ClinGen TOPMed |
|
rs374921883 CA2908604 |
737 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2908603 rs374921883 |
737 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA356808224 rs1447346324 |
739 | A>S | No |
ClinGen TOPMed gnomAD |
|
rs1240177496 CA356808235 |
740 | Y>F | No |
ClinGen gnomAD |
|
CA356808259 rs1185673663 |
743 | T>I | No |
ClinGen gnomAD |
|
rs1162198061 CA356808269 |
745 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs368001466 CA2908605 |
745 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1471734347 CA356808275 |
746 | S>C | No |
ClinGen TOPMed |
|
CA356808272 rs1387713450 |
746 | S>P | No |
ClinGen gnomAD |
|
rs756861814 CA2908609 |
747 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs146146861 CA96636592 |
747 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
rs756861814 CA2908608 |
747 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA96636608 rs113146367 |
752 | V>A | No |
ClinGen Ensembl |
|
rs1454230675 CA356808313 |
753 | M>V | No |
ClinGen gnomAD |
|
rs756436780 CA2908611 |
755 | D>N | No |
ClinGen ExAC gnomAD |
|
CA356808335 rs1560444213 |
756 | F>L | No |
ClinGen Ensembl |
|
CA356808338 rs1464982293 |
756 | F>S | No |
ClinGen TOPMed |
|
rs375583564 CA2908612 |
757 | A>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA356808346 rs1560444234 |
757 | A>V | No |
ClinGen Ensembl |
|
rs200095375 CA2908614 |
760 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA356808367 rs1351263870 |
761 | P>S | No |
ClinGen gnomAD |
|
CA356808365 rs1351263870 |
761 | P>T | No |
ClinGen gnomAD |
|
rs1285199096 CA356808383 |
763 | T>I | No |
ClinGen TOPMed |
|
TCGA novel | 767 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs768407090 CA96636629 |
768 | H>P | No |
ClinGen Ensembl |
|
CA96636634 rs1012032831 |
771 | P>S | No |
ClinGen TOPMed |
|
rs1391680586 CA356808456 |
774 | S>L | No |
ClinGen gnomAD |
|
CA2908619 rs776492459 |
775 | V>A | No |
ClinGen ExAC gnomAD |
|
CA2908620 rs764990155 |
780 | S>ATQI* | No |
ClinGen ExAC |
|
CA2908621 rs750041884 |
782 | V>Q | No |
ClinGen ExAC |
|
CA2908623 rs74552892 |
784 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
CA356808519 rs796765340 |
784 | R>P | No |
ClinGen TOPMed gnomAD |
|
rs796765340 CA96636646 |
784 | R>Q | No |
ClinGen TOPMed gnomAD |
|
rs1349388348 CA356808526 |
785 | H>Q | No |
ClinGen TOPMed |
|
rs1031416276 CA96636650 |
786 | P>L | No |
ClinGen TOPMed gnomAD |
|
rs1470764324 CA356808533 |
787 | L>V | No |
ClinGen gnomAD |
|
rs541304180 CA2908624 |
789 | N>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
TCGA novel | 790 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA356808568 rs1286311938 |
792 | V>L | No |
ClinGen TOPMed |
|
rs751282807 CA2908627 |
793 | V>A | No |
ClinGen ExAC gnomAD |
|
rs149814216 CA2908626 |
793 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs149814216 CA356808572 |
793 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2908628 rs756771703 |
794 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2908629 rs767141536 |
795 | T>M | No |
ClinGen ExAC gnomAD |
|
CA356808583 rs1245693955 |
795 | T>P | No |
ClinGen TOPMed |
|
CA356808592 rs1326405821 |
796 | K>R | No |
ClinGen TOPMed gnomAD |
|
rs780443888 CA2908632 |
798 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs749654029 CA2908633 |
800 | S>A | No |
ClinGen ExAC gnomAD |
|
CA2908634 rs755400903 |
803 | M>V | No |
ClinGen ExAC gnomAD |
|
COSM279043 CA2908635 rs145762869 |
807 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
CA2908638 rs772070379 |
808 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2908637 rs772070379 |
808 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1438529223 CA356808672 |
809 | A>S | No |
ClinGen gnomAD |
|
rs76810881 CA96636728 |
810 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
CA2908639 rs745800917 |
811 | P>A | No |
ClinGen ExAC TOPMed |
|
rs267600170 CA96636746 |
811 | P>L | No |
ClinGen Ensembl |
|
CA356808714 rs1380576628 |
814 | A>V | No |
ClinGen Ensembl |
|
rs879317697 CA96637075 |
815 | S>T | No |
ClinGen Ensembl |
|
CA356808724 rs1200800874 |
816 | L>M | No |
ClinGen gnomAD |
|
CA356808725 rs1200800874 |
816 | L>V | No |
ClinGen gnomAD |
|
CA2908655 rs777803503 |
817 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA356808734 rs1341152822 |
817 | E>D | No |
ClinGen TOPMed |
|
rs377230023 CA2908654 |
817 | E>K | No |
ClinGen ESP ExAC TOPMed |
|
CA2908656 rs747095677 |
819 | Q>R | No |
ClinGen ExAC gnomAD |
|
CA356808800 rs1161836013 |
826 | K>I | No |
ClinGen gnomAD |
|
rs779801543 CA2908658 |
828 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 828 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA356808812 rs1165585596 |
828 | Q>R | No |
ClinGen gnomAD |
|
CA356808824 rs749255964 |
830 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs768568217 CA2908660 |
830 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2908659 rs749255964 |
830 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2908661 rs774348386 |
831 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs895999196 CA96637128 |
831 | L>V | No |
ClinGen Ensembl |
|
CA2908662 rs761536056 |
832 | D>G | No |
ClinGen ExAC gnomAD |
|
CA2908664 rs772948636 |
833 | D>E | No |
ClinGen ExAC gnomAD |
|
CA356808857 rs1276798692 |
835 | A>T | No |
ClinGen Ensembl |
|
CA356808870 rs1306613768 |
836 | K>N | No |
ClinGen TOPMed |
|
rs1327211280 CA356808881 |
838 | G>C | No |
ClinGen gnomAD |
|
rs1560444953 CA356808888 |
839 | L>H | No |
ClinGen Ensembl |
|
CA2908665 rs760054397 |
840 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs765924864 CA2908666 |
840 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs754230088 CA2908667 |
843 | C>R | No |
ClinGen ExAC gnomAD |
|
CA2908668 rs760099733 |
845 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1560444985 CA356808935 |
847 | K>Q | No |
ClinGen Ensembl |
|
rs1246866348 CA356808956 |
848 | V>I | No |
ClinGen gnomAD |
|
CA356808963 rs138361998 |
849 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA2908687 rs138361998 |
849 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1047121089 CA96638098 |
850 | S>N | No |
ClinGen Ensembl |
|
rs1358252847 CA356808970 |
850 | S>R | No |
ClinGen TOPMed |
|
rs1320373884 CA356808977 |
851 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA2908688 rs776005074 |
852 | T>P | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 853 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1485783508 CA356809007 |
855 | A>P | No |
ClinGen gnomAD |
|
rs1485783508 CA356809006 |
855 | A>T | No |
ClinGen gnomAD |
|
CA356809020 rs1206402618 |
857 | W>R | No |
ClinGen gnomAD |
|
rs1244645439 CA356809029 |
858 | L>M | No |
ClinGen gnomAD |
|
TCGA novel | 858 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA2908690 rs764528510 |
859 | R>G | No |
ClinGen ExAC gnomAD |
|
CA2908691 rs751728626 |
859 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 859 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA2908692 rs757559049 |
860 | N>D | No |
ClinGen ExAC gnomAD |
|
CA356809059 rs1420746815 |
862 | F>C | No |
ClinGen gnomAD |
|
rs147675892 CA2908693 |
867 | S>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs147675892 CA356809093 |
867 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2908694 rs750571239 |
868 | I>V | No |
ClinGen ExAC gnomAD |
|
rs1318759213 CA356809135 |
873 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA2908695 rs756293578 |
876 | L>F | No |
ClinGen ExAC gnomAD |
|
rs1347388222 CA356809158 |
877 | E>K | No |
ClinGen TOPMed |
|
rs142329918 CA2908697 |
880 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2908696 rs778944480 |
880 | M>T | No |
ClinGen ExAC gnomAD |
|
rs1577685570 CA356809199 |
883 | E>K | No |
ClinGen Ensembl |
|
rs758198011 CA2908698 |
884 | N>D | No |
ClinGen ExAC gnomAD |
|
rs1308381593 CA356809224 |
886 | L>F | No |
ClinGen gnomAD |
|
CA2908699 rs777689738 |
887 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs746625584 CA2908700 |
887 | T>I | No |
ClinGen ExAC gnomAD |
|
rs746625584 CA356809230 |
887 | T>K | No |
ClinGen ExAC gnomAD |
|
rs1461439449 CA356809232 |
888 | L>I | No |
ClinGen gnomAD |
|
CA356809275 rs1175073653 |
893 | G>C | No |
ClinGen TOPMed |
|
rs984988802 CA96639592 |
894 | I>V | No |
ClinGen gnomAD |
|
CA96639595 rs573220898 |
895 | E>G | No |
ClinGen gnomAD |
|
rs1454371202 CA356809285 |
895 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs1190803902 COSM1184004 CA356809302 |
897 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs746857968 CA2908720 |
897 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs746857968 CA2908721 |
897 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA356809339 rs1251793068 |
903 | P>S | No |
ClinGen TOPMed |
|
CA2908724 rs769294120 |
906 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA356809358 rs1428370586 |
906 | I>V | No |
ClinGen gnomAD |
|
CA356809376 rs1346511561 |
908 | A>V | No |
ClinGen TOPMed gnomAD |
|
rs147847026 CA2908725 |
910 | H>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA356809395 rs1273466768 |
911 | K>I | No |
ClinGen gnomAD |
|
CA96639607 rs200004371 |
912 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
TCGA novel | 913 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA96639608 rs903422570 |
914 | I>V | No |
ClinGen TOPMed |
|
rs1271663804 CA356809427 |
916 | I>T | No |
ClinGen gnomAD |
|
CA2908727 rs769247728 |
918 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs774752451 CA2908728 |
921 | G>E | No |
ClinGen ExAC gnomAD |
|
rs543298578 CA96639620 |
923 | K>Q | No |
ClinGen 1000Genomes |
|
CA356809482 rs1490171560 |
924 | Q>R | No |
ClinGen gnomAD |
|
rs762188924 CA2908729 |
925 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA356809488 rs762188924 |
925 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs914530009 CA96639623 |
925 | E>Q | No |
ClinGen Ensembl |
|
rs1243636611 CA356809496 |
926 | T>R | No |
ClinGen gnomAD |
|
rs371722384 CA2908731 |
928 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2908732 rs761045453 |
929 | N>D | No |
ClinGen ExAC gnomAD |
|
rs1314371912 CA356809512 |
929 | N>S | No |
ClinGen TOPMed |
|
rs1447780613 CA356809520 |
930 | I>T | No |
ClinGen gnomAD |
|
rs754016049 CA2908734 |
933 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1041556197 CA96639634 |
933 | A>V | No |
ClinGen Ensembl |
|
CA356809542 rs1156314506 |
934 | C>R | No |
ClinGen TOPMed |
|
CA2908735 rs762763809 |
935 | K>E | No |
ClinGen ExAC gnomAD |
|
rs1227461430 CA356809585 |
940 | D>E | No |
ClinGen TOPMed gnomAD |
|
rs757014135 CA2908738 |
940 | D>N | No |
ClinGen ExAC gnomAD |
|
CA2908739 rs781034898 |
942 | K>* | No |
ClinGen ExAC gnomAD |
|
rs781034898 CA356809596 |
942 | K>Q | No |
ClinGen ExAC gnomAD |
|
rs750067673 CA2908740 |
943 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs996516884 CA96639652 |
948 | T>A | No |
ClinGen TOPMed |
|
rs1207999725 CA356809649 |
950 | S>R | No |
ClinGen gnomAD |
|
rs1295127182 CA356809658 |
951 | K>E | No |
ClinGen gnomAD |
|
CA356809686 rs1315562617 |
953 | A>T | No |
ClinGen Ensembl |
|
CA356809696 rs1441954415 |
954 | C>S | No |
ClinGen gnomAD |
|
CA2908761 rs543911299 |
956 | M>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs754442232 CA2908763 |
958 | M>T | No |
ClinGen ExAC gnomAD |
|
CA2908764 rs17462252 VAR_048393 |
959 | S>N | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1410227429 CA356809737 |
960 | T>I | No |
ClinGen gnomAD |
|
CA356809739 rs1410227429 |
960 | T>K | No |
ClinGen gnomAD |
|
rs199756910 CA2908765 |
961 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA356809751 rs1356644065 |
962 | L>F | No |
ClinGen TOPMed |
|
CA356809773 rs1329913022 |
965 | L>P | No |
ClinGen TOPMed |
|
CA2908766 rs368388765 |
966 | Q>E | No |
ClinGen ESP ExAC gnomAD |
|
CA356809802 rs778247674 |
969 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2908767 rs778247674 |
969 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs747333512 CA2908768 |
970 | Q>* | No |
ClinGen ExAC gnomAD |
|
rs1178722673 CA356809816 |
972 | L>M | No |
ClinGen TOPMed |
|
rs1409139438 CA356809821 |
973 | P>T | No |
ClinGen TOPMed gnomAD |
|
CA356809842 rs1286164643 |
975 | Q>H | No |
ClinGen gnomAD |
|
rs1225545531 CA356809862 |
979 | S>G | No |
ClinGen gnomAD |
|
rs746146079 CA2908771 |
979 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA356809881 rs1000995997 |
981 | D>A | No |
ClinGen TOPMed |
|
CA96641866 rs1000995997 |
981 | D>G | No |
ClinGen TOPMed |
|
CA2908772 rs769906876 |
983 | L>P | No |
ClinGen ExAC gnomAD |
|
CA356809910 rs1198762320 |
985 | P>L | No |
ClinGen gnomAD |
|
rs1198988721 CA356809906 |
985 | P>S | No |
ClinGen TOPMed |
|
CA2908773 rs137994896 |
987 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs137994896 CA356809917 |
987 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2908774 rs137994896 |
987 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2908778 rs760406341 |
988 | P>R | No |
ClinGen ExAC |
|
CA2908777 rs773155936 |
988 | P>S | No |
ClinGen ExAC gnomAD |
|
rs753524004 CA356809925 |
989 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA2908781 rs754642932 |
989 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs753524004 CA2908780 |
989 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2908782 rs764782844 |
990 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1396613226 CA356809940 |
991 | S>L | No |
ClinGen gnomAD |
|
TCGA novel | 993 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs200863114 CA2908784 |
994 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA2908786 rs147568390 |
994 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs147568390 CA356809957 |
994 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs147568390 CA2908785 |
994 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 995 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA2908788 rs757625655 |
996 | G>A | No |
ClinGen ExAC gnomAD |
|
CA2908787 rs757625655 |
996 | G>V | No |
ClinGen ExAC gnomAD |
|
CA356809989 rs1466694912 |
997 | L>F | No |
ClinGen TOPMed |
|
CA356810003 rs1344693454 |
998 | I>V | No |
ClinGen TOPMed |
|
CA356810022 rs1560450614 |
999 | I>T | No |
ClinGen Ensembl |
|
rs1389012626 CA356810035 |
1000 | T>N | No |
ClinGen gnomAD |
|
rs866286118 CA96641947 |
1001 | G>W | No |
ClinGen Ensembl |
|
rs769954709 CA2908790 |
1002 | K>R | No |
ClinGen ExAC gnomAD |
|
rs1231349219 CA356810070 |
1003 | T>I | No |
ClinGen gnomAD |
|
CA356810075 rs144659641 |
1004 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2908791 rs144659641 |
1004 | L>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA356810119 rs1205040394 |
1007 | A>S | No |
ClinGen gnomAD |
|
rs768736337 CA356810130 |
1008 | L>M | No |
ClinGen ExAC gnomAD |
|
CA356810135 rs1417264372 |
1008 | L>P | No |
ClinGen TOPMed |
|
rs768736337 CA2908793 |
1008 | L>V | No |
ClinGen ExAC gnomAD |
|
CA356810169 rs1179067660 |
1010 | E>D | No |
ClinGen TOPMed |
|
rs1490991214 CA356810165 |
1010 | E>G | No |
ClinGen TOPMed gnomAD |
|
rs1490991214 CA356810167 |
1010 | E>V | No |
ClinGen TOPMed gnomAD |
|
rs773068101 CA2908794 |
1015 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs372690498 CA2908795 |
1015 | Q>P | No |
ClinGen ESP ExAC gnomAD |
|
rs372690498 CA356810227 |
1015 | Q>R | No |
ClinGen ESP ExAC gnomAD |
|
CA2908797 rs776339727 |
1016 | F>L | No |
ClinGen ExAC |
|
rs759195174 CA2908798 |
1018 | E>K | No |
ClinGen ExAC gnomAD |
|
rs201412941 CA2908799 |
1019 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs752412350 CA2908800 |
1021 | S>P | No |
ClinGen ExAC gnomAD |
|
CA356810312 rs1166196070 |
1022 | W>* | No |
ClinGen gnomAD |
|
rs1367324670 CA356810317 |
1023 | C>G | No |
ClinGen gnomAD |
|
rs1372854029 CA356810323 |
1023 | C>Y | No |
ClinGen gnomAD |
|
TCGA novel | 1027 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs752102562 CA356810435 |
1030 | R>* | No |
ClinGen ExAC gnomAD |
|
rs752102562 CA2908803 |
1030 | R>G | No |
ClinGen ExAC gnomAD |
|
rs138541186 CA2908804 |
1030 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA356810483 rs1289032538 |
1033 | P>L | No |
ClinGen Ensembl |
|
CA356810493 rs1231233404 |
1034 | L>R | No |
ClinGen TOPMed gnomAD |
|
CA2908806 rs202123877 |
1037 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1362139707 CA356810589 |
1041 | K>Q | No |
ClinGen gnomAD |
|
rs565285972 CA96642077 |
1043 | V>I | No |
ClinGen 1000Genomes |
|
rs532632251 CA2908808 |
1044 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs749518084 CA2908809 |
1044 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA356810650 rs749518084 |
1044 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2908810 rs768719800 |
1045 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA96642087 rs937038620 |
1046 | H>N | No |
ClinGen TOPMed |
|
CA2908811 rs779020702 |
1047 | L>F | No |
ClinGen ExAC gnomAD |
|
CA2908812 rs188036119 |
1048 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs568892444 CA2908813 |
1049 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs776661621 CA2908814 |
1050 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA356810749 rs1159192186 |
1051 | T>I | No |
ClinGen TOPMed |
|
CA2908816 rs193079887 |
1052 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA2908833 rs372999962 |
1055 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2908832 rs372999962 |
1055 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA2908834 rs769469125 |
1056 | D>E | No |
ClinGen ExAC |
|
TCGA novel | 1057 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA356811041 rs1292718743 |
1058 | A>T | No |
ClinGen gnomAD |
|
rs775477328 CA2908835 |
1058 | A>V | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs1226154872 CA356811047 |
1059 | N>D | No |
ClinGen gnomAD |
|
rs200697091 CA2908836 |
1060 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1312435031 CA356811069 |
1062 | S>N | No |
ClinGen TOPMed gnomAD |
|
CA356811075 rs1208769164 |
1063 | M>V | No |
ClinGen gnomAD |
|
rs768386807 CA2908837 |
1064 | I>M | No |
ClinGen ExAC gnomAD |
|
CA356811098 rs1160543659 |
1066 | V>L | No |
ClinGen TOPMed |
|
CA356811115 rs1470606512 |
1068 | D>E | No |
ClinGen TOPMed |
|
rs1481542324 CA356811109 |
1068 | D>N | No |
ClinGen gnomAD |
|
CA356811118 rs1368019013 |
1069 | I>V | No |
ClinGen TOPMed |
|
CA356811127 rs1182887197 |
1070 | G>E | No |
ClinGen gnomAD |
|
CA356811140 rs1471512221 |
1072 | G>E | No |
ClinGen gnomAD |
|
CA96646859 rs907291448 |
1073 | V>F | No |
ClinGen TOPMed gnomAD |
|
rs907291448 CA356811143 |
1073 | V>I | No |
ClinGen TOPMed gnomAD |
|
CA2908838 rs774174090 |
1076 | Q>P | No |
ClinGen ExAC gnomAD |
|
CA356811163 rs774174090 |
1076 | Q>R | No |
ClinGen ExAC gnomAD |
|
CA2908840 COSM1670999 rs761170058 CA356811200 |
1079 | M>I | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA2908841 rs767060029 |
1080 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1016794326 CA96647578 |
1081 | A>T | No |
ClinGen Ensembl |
|
rs1435308458 CA356811358 |
1084 | A>S | No |
ClinGen gnomAD |
|
rs1463943693 CA356811374 |
1085 | S>N | No |
ClinGen TOPMed |
|
rs182459999 CA96647584 |
1087 | F>L | No |
ClinGen 1000Genomes |
|
rs376165524 CA2908863 |
1089 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs376165524 CA96647619 |
1089 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA96647623 rs993482092 |
1091 | Q>* | No |
ClinGen gnomAD |
|
rs777145546 CA2908864 |
1091 | Q>H | No |
ClinGen ExAC gnomAD |
|
rs759832169 CA2908865 |
1092 | F>I | No |
ClinGen ExAC |
|
rs1452868814 CA356811487 |
1093 | K>R | No |
ClinGen TOPMed |
|
rs765587732 CA2908867 |
1099 | L>I | No |
ClinGen ExAC gnomAD |
|
rs148784624 CA356811606 |
1102 | H>D | No |
ClinGen ESP ExAC gnomAD |
|
rs148784624 CA2908870 |
1102 | H>N | No |
ClinGen ESP ExAC gnomAD |
|
rs751621741 CA2908871 |
1102 | H>P | No |
ClinGen ExAC gnomAD |
|
CA356811618 rs757438980 |
1102 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA356811644 rs1448190877 |
1104 | H>R | No |
ClinGen TOPMed gnomAD |
|
CA2908873 rs780086835 |
1105 | W>* | No |
ClinGen ExAC gnomAD |
|
CA2908874 rs749242976 |
1105 | W>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs1209884622 CA356811654 |
1105 | W>R | No |
ClinGen TOPMed |
|
rs778911658 CA2908877 COSM1186565 |
1109 | R>W | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs868689531 CA96647711 |
1111 | S>T | No |
ClinGen Ensembl |
|
rs747735220 CA2908878 |
1112 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA2908879 rs771795320 |
1114 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA356811800 rs1184910645 |
1115 | L>F | No |
ClinGen TOPMed gnomAD |
|
CA356811798 rs1184910645 |
1115 | L>V | No |
ClinGen TOPMed gnomAD |
|
CA2908880 rs141533238 |
1116 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 1117 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs746477757 CA2908881 |
1120 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 1120 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs777051830 CA356811902 |
1121 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2908882 rs371072531 |
1121 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs778542947 CA2908895 |
1124 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs778542947 CA356812078 |
1124 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1289969697 CA356812090 |
1126 | N>Y | No |
ClinGen gnomAD |
|
CA2908896 rs548527000 |
1130 | W>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA96650419 rs780175920 |
1130 | W>R | No |
ClinGen TOPMed gnomAD |
|
rs758149277 CA2908897 |
1132 | Q>P | No |
ClinGen ExAC gnomAD |
|
CA2908898 COSM1055722 rs777425761 |
1133 | F>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
TCGA novel | 1135 | C>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA356812192 rs1442335423 |
1140 | T>I | No |
ClinGen TOPMed gnomAD |
|
CA356812225 rs1471185314 |
1145 | Y>C | No |
ClinGen TOPMed |
|
CA96650456 rs113342735 |
1145 | Y>H | No |
ClinGen Ensembl |
|
rs139349772 CA2908902 |
1147 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA2908901 rs373789759 |
1147 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA356812258 rs1473150805 |
1150 | F>V | No |
ClinGen gnomAD |
|
CA356812271 rs1468797852 |
1151 | F>L | No |
ClinGen TOPMed |
|
rs775887388 CA2908904 |
1152 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs145477523 CA2908905 |
1153 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA96650491 rs532360506 |
1154 | L>P | No |
ClinGen Ensembl |
|
rs768910963 CA2908906 |
1156 | T>A | No |
ClinGen ExAC gnomAD |
|
CA2908907 rs774629337 |
1156 | T>I | No |
ClinGen ExAC gnomAD |
|
rs1441862262 CA356812317 |
1159 | P>L | No |
ClinGen TOPMed |
|
CA2908908 rs762184323 |
1161 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs767684890 CA2908909 |
1162 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA356812340 rs1408944862 |
1163 | Y>C | No |
ClinGen TOPMed gnomAD |
|
CA356812339 rs1408944862 |
1163 | Y>S | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 1166 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA96650512 rs916389468 |
1167 | E>K | No |
ClinGen Ensembl |
|
CA356812383 rs1275505013 |
1169 | D>E | No |
ClinGen TOPMed gnomAD |
|
CA2908911 rs750573173 |
1169 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1235768737 CA356812380 |
1169 | D>V | No |
ClinGen gnomAD |
|
rs760867195 CA2908912 |
1170 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs760867195 CA356812385 |
1170 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA356812398 rs1209322214 |
1172 | A>E | No |
ClinGen gnomAD |
|
rs112973469 CA96650551 |
1172 | A>T | No |
ClinGen Ensembl |
|
CA2908913 rs765171447 |
1175 | L>F | No |
ClinGen ExAC gnomAD |
|
rs1204800239 CA356812433 |
1177 | Q>R | No |
ClinGen gnomAD |
|
rs16851681 VAR_048394 CA2908915 |
1183 | R>K | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA96650605 rs768976888 |
1186 | Q>E | No |
ClinGen TOPMed gnomAD |
|
rs370383541 CA2908916 |
1188 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1476784491 CA356812515 |
1189 | E>D | No |
ClinGen gnomAD |
|
rs751195786 CA2908917 |
1189 | E>K | No |
ClinGen ExAC |
|
TCGA novel | 1189 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs767100122 CA2908939 |
1193 | P>S | No |
ClinGen ExAC gnomAD |
|
CA356812562 rs1322625448 |
1194 | H>Q | No |
ClinGen gnomAD |
|
rs367938126 CA2908941 |
1196 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1366110011 CA356812573 |
1196 | F>S | No |
ClinGen gnomAD |
|
rs749783360 CA2908943 |
1200 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 1202 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1265235691 CA356812622 |
1203 | A>G | No |
ClinGen gnomAD |
|
CA2908945 rs779597466 |
1205 | Y>C | No |
ClinGen ExAC gnomAD |
|
CA356812635 rs779597466 |
1205 | Y>F | No |
ClinGen ExAC gnomAD |
|
rs756110526 CA2908944 |
1205 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 1205 | Y>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
COSM4135794 rs1248068977 CA356812640 |
1206 | Q>E | ovary [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA356812639 rs1248068977 |
1206 | Q>K | No |
ClinGen gnomAD |
|
CA2908946 rs748472082 |
1207 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1214135241 CA356812655 |
1208 | L>V | No |
ClinGen TOPMed |
|
rs1326952580 CA356812665 |
1210 | C>G | No |
ClinGen gnomAD |
|
rs1184275465 CA356812676 |
1211 | F>Y | No |
ClinGen gnomAD |
|
CA356812693 rs1255824094 |
1213 | V>A | No |
ClinGen TOPMed |
|
rs772575410 CA2908947 |
1216 | F>L | No |
ClinGen ExAC gnomAD |
|
rs1280164274 CA356812742 |
1217 | T>A | No |
ClinGen TOPMed gnomAD |
|
rs1214459150 CA356812754 |
1218 | Y>C | No |
ClinGen TOPMed |
|
rs753249993 CA2908961 |
1218 | Y>H | No |
ClinGen ExAC gnomAD |
|
CA96653460 rs144576632 |
1219 | Q>* | No |
ClinGen ESP ExAC gnomAD |
|
CA2908963 rs144576632 |
1219 | Q>E | No |
ClinGen ESP ExAC gnomAD |
|
rs149003357 CA2908964 |
1220 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs758828166 CA2908965 |
1222 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
COSM1495764 rs1302821257 CA356812811 |
1223 | T>I | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
CA96653465 rs760164138 |
1224 | D>E | No |
ClinGen Ensembl |
|
rs371755728 CA96653466 |
1225 | I>V | No |
ClinGen ESP |
|
rs1374190568 CA356812839 |
1226 | F>Y | No |
ClinGen TOPMed gnomAD |
|
rs1560458023 CA356812861 |
1228 | F>L | No |
ClinGen Ensembl |
|
CA356812893 rs1577708375 |
1230 | N>K | No |
ClinGen Ensembl |
|
rs1199907836 CA356812891 |
1230 | N>T | No |
ClinGen TOPMed |
|
CA2908967 rs565136756 |
1231 | P>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA356812903 rs565136756 |
1231 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA356812897 rs1412017550 |
1231 | P>T | No |
ClinGen gnomAD |
|
rs375013581 CA2908968 |
1233 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs375013581 CA356812920 |
1233 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1001170350 CA96653476 |
1234 | T>I | No |
ClinGen Ensembl |
|
CA356812926 rs1221771172 |
1234 | T>P | No |
ClinGen gnomAD |
|
rs762466294 CA2908970 |
1236 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs769868948 CA2908971 |
1236 | A>V | No |
ClinGen ExAC gnomAD |
|
rs761798082 CA2908973 |
1237 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs200439351 CA2908976 |
1240 | V>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
VAR_020187 rs1058793 CA2908975 |
1240 | V>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
TCGA novel | 1242 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1175774910 CA356813013 |
1242 | L>F | No |
ClinGen gnomAD |
|
rs765901941 CA356813028 |
1243 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs765901941 CA2908977 |
1243 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1433792203 CA356813051 |
1246 | I>V | No |
ClinGen gnomAD |
|
CA96653513 rs1025468444 |
1248 | S>T | No |
ClinGen TOPMed |
|
rs753538738 CA2908978 |
1249 | K>R | No |
ClinGen ExAC gnomAD |
|
rs375191152 CA96653528 COSM4135795 |
1251 | L>F | ovary [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
TCGA novel | 1255 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 1258 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 1260 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs776140901 CA2908996 |
1260 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA356813512 rs1359813790 |
1260 | I>V | No |
ClinGen gnomAD |
|
TCGA novel | 1262 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA2908997 rs200363788 |
1264 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA356813537 rs1290341699 |
1264 | L>M | No |
ClinGen gnomAD |
|
CA356813540 rs1478154469 |
1264 | L>S | No |
ClinGen TOPMed |
|
rs1247555474 CA356813569 |
1268 | L>* | No |
ClinGen TOPMed |
|
CA356813572 rs1204235586 |
1269 | F>I | No |
ClinGen TOPMed |
|
rs764814212 CA2908998 |
1271 | I>T | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1273 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA356813609 rs1271318523 |
1274 | G>E | No |
ClinGen gnomAD |
|
CA2908999 rs752294717 |
1275 | A>V | No |
ClinGen ExAC gnomAD |
|
CA2909001 rs764644710 |
1277 | C>F | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1279 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA2909002 rs752113748 |
1279 | T>P | No |
ClinGen ExAC gnomAD |
|
rs757558783 CA2909003 |
1280 | C>Y | No |
ClinGen ExAC gnomAD |
|
rs1415055125 CA356813653 |
1281 | N>Y | No |
ClinGen gnomAD |
|
CA356813663 rs1436464470 |
1282 | P>R | No |
ClinGen TOPMed |
|
rs1390182097 CA356813682 |
1285 | N>K | No |
ClinGen gnomAD |
|
rs750588188 CA2909005 |
1285 | N>S | No |
ClinGen ExAC gnomAD |
|
rs756372515 CA356813687 |
1286 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2909006 rs756372515 |
1286 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2909008 rs537212141 |
1287 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1280805319 CA356813691 |
1287 | Y>S | No |
ClinGen TOPMed |
|
CA96655330 rs971757121 |
1289 | I>L | No |
ClinGen Ensembl |
|
rs1224880785 CA356813716 |
1290 | M>R | No |
ClinGen TOPMed |
|
CA96655337 rs865781144 |
1292 | E>K | No |
ClinGen Ensembl |
|
rs919139787 CA96655342 |
1293 | H>D | No |
ClinGen TOPMed |
|
CA96655358 rs954609099 |
1293 | H>R | No |
ClinGen Ensembl |
|
CA2909011 rs777503185 |
1294 | M>V | No |
ClinGen ExAC gnomAD |
|
CA2909012 rs747031885 |
1295 | L>P | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1299 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs745485512 CA2909015 |
1300 | Y>C | No |
ClinGen ExAC gnomAD |
|
CA356813799 rs1577713706 |
1302 | V>A | No |
ClinGen Ensembl |
|
rs1283669323 CA356813803 |
1303 | C>G | No |
ClinGen gnomAD |
|
rs769530760 CA2909016 |
1304 | I>T | No |
ClinGen ExAC |
|
rs556426025 CA2909018 |
1306 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs371160449 CA2909020 |
1307 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1469221831 CA356813826 |
1307 | T>P | No |
ClinGen TOPMed |
|
rs1157466045 CA356813843 |
1309 | I>M | No |
ClinGen gnomAD |
|
CA356813867 rs1416067564 |
1314 | R>G | No |
ClinGen gnomAD |
|
rs923658608 CA96656618 |
1315 | F>L | No |
ClinGen TOPMed |
|
rs1328496271 CA356814348 |
1316 | V>I | No |
ClinGen gnomAD |
|
rs1328496271 CA356814347 |
1316 | V>L | No |
ClinGen gnomAD |
|
CA2909038 rs761263984 |
1317 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 1317 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA356814370 rs1438616399 |
1318 | R>G | No |
ClinGen gnomAD |
|
rs1325932428 CA356814405 |
1321 | Q>E | No |
ClinGen gnomAD |
|
CA2909039 rs202051358 |
1322 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA2909040 rs202051358 |
1322 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA2909041 rs760966304 |
1329 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2909043 rs754044679 |
1331 | R>K | No |
ClinGen ExAC gnomAD |
|
CA96656638 rs952386230 |
1332 | A>G | No |
ClinGen gnomAD |
|
CA96656636 rs867726239 |
1332 | A>S | No |
ClinGen Ensembl |
|
CA96656629 rs867726239 |
1332 | A>T | No |
ClinGen Ensembl |
|
TCGA novel | 1333 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
CA356814556 rs1351758401 |
1334 | H>Q | No |
ClinGen gnomAD |
|
CA2909045 rs765197408 |
1336 | D>E | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1336 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs755272519 CA2909044 |
1336 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs758429900 CA2909047 |
1340 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs758429900 CA2909048 |
1340 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs750389206 CA2909049 |
1342 | E>G | No |
ClinGen ExAC gnomAD |
|
CA96656645 rs1015537193 |
1344 | T>P | No |
ClinGen Ensembl |
|
rs1452499000 CA356814643 |
1345 | K>R | No |
ClinGen gnomAD |
|
CA356814656 rs1170458573 |
1347 | L>F | No |
ClinGen gnomAD |
|
rs200479028 CA96656648 |
1349 | K>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1235452369 CA356814672 |
1349 | K>N | No |
ClinGen TOPMed |
|
CA2909051 rs200479028 |
1349 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs748917696 CA2909053 |
1350 | W>C | No |
ClinGen ExAC gnomAD |
|
CA2909052 rs780045645 |
1350 | W>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA356814683 rs1394524135 |
1351 | R>K | No |
ClinGen gnomAD |
|
CA356814691 rs1288716306 |
1352 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
CA96657162 rs976606813 |
1354 | G>A | No |
ClinGen Ensembl |
|
CA2909054 rs768315499 |
1356 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs548274430 CA2909055 |
1357 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA2909057 rs771490282 |
1360 | T>S | No |
ClinGen ExAC gnomAD |
|
rs773708029 CA2909059 |
1362 | K>Q | No |
ClinGen ExAC gnomAD |
|
CA356814764 rs1290243271 |
1363 | Y>C | No |
ClinGen TOPMed gnomAD |
|
rs367581812 CA2909061 |
1364 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1450979340 CA356814781 |
1366 | Q>K | No |
ClinGen gnomAD |
|
rs759845867 CA2909063 |
1367 | S>* | No |
ClinGen ExAC gnomAD |
|
rs765449130 CA2909064 |
1368 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs752875766 CA2909065 |
1370 | K>N | No |
ClinGen ExAC gnomAD |
|
COSM447899 CA2909066 rs763021315 |
1372 | G>E | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
CA96657178 rs549860330 |
1373 | R>G | No |
ClinGen Ensembl |
|
CA356814824 rs1427858529 |
1373 | R>K | No |
ClinGen gnomAD |
|
CA356814833 rs1190735648 |
1374 | R>K | No |
ClinGen gnomAD |
|
CA2909067 rs764328031 |
1374 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1459609467 CA356814845 |
1376 | M>T | No |
ClinGen gnomAD |
|
CA2909068 rs750366549 |
1378 | G>R | No |
ClinGen ExAC gnomAD |
|
CA96657186 rs369714734 |
1379 | P>R | No |
ClinGen ESP gnomAD |
|
CA2909069 rs756160620 |
1380 | S>F | No |
ClinGen ExAC gnomAD |
|
CA2909070 rs780172839 |
1382 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2909072 COSM230034 rs754747002 |
1385 | M>I | NS [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs1014782037 CA96657192 |
1388 | A>P | No |
ClinGen TOPMed |
|
rs4145944 VAR_024371 CA2909074 |
1389 | S>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA96657196 rs112565536 |
1390 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA2909076 rs777311172 |
1391 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
rs370150000 CA96657202 |
1391 | C>Y | No |
ClinGen ESP TOPMed gnomAD |
|
rs35375547 CA2909077 |
1392 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
VAR_048395 CA96657209 rs35375547 |
1392 | A>G | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
CA356814944 rs35375547 |
1392 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA2909078 rs568660794 |
1393 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
rs140236295 CA2909080 |
1394 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs140236295 CA2909079 |
1394 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
TCGA novel | 1397 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
rs1577718063 CA356814982 |
1398 | L>S | No |
ClinGen Ensembl |
|
CA96657221 rs780438747 |
1399 | S>P | No |
ClinGen TOPMed gnomAD |
|
rs1420060014 CA356815000 |
1401 | C>S | No |
ClinGen TOPMed |
|
CA2909086 rs763134802 |
1402 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1417337344 CA356815014 |
1403 | T>N | Variant assessed as Somatic; 4.63e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs533724339 CA96657228 |
1404 | A>T | No |
ClinGen 1000Genomes |
|
rs764240036 CA96657231 |
1408 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs764240036 CA2909087 |
1408 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1287153869 CA356815054 |
1409 | Y>F | No |
ClinGen gnomAD |
|
CA2909089 rs762008183 |
1412 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs558941985 CA2909090 |
1413 | K>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA356815085 rs1405014886 |
1414 | A>S | No |
ClinGen gnomAD |
|
CA356815121 rs373941219 |
1419 | G>* | No |
ClinGen ESP TOPMed gnomAD |
|
CA96657232 COSM318820 rs373941219 |
1419 | G>R | lung [Cosmic] | No |
ClinGen cosmic curated ESP TOPMed gnomAD |
rs753727748 CA2909091 |
1419 | G>V | No |
ClinGen ExAC TOPMed |
|
CA2909092 rs754801127 |
1420 | P>S | No |
ClinGen ExAC gnomAD |
|
CA356815125 rs754801127 |
1420 | P>T | No |
ClinGen ExAC gnomAD |
|
CA2909093 rs765003197 |
1423 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs924128502 CA96657236 |
1423 | G>R | No |
ClinGen TOPMed |
|
rs765003197 CA356815145 |
1423 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs145210912 CA2909094 |
1427 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
No associated diseases with Q9P241
Functions
Description | ||
---|---|---|
EC Number | 7.6.2.1 | Linked to the hydrolysis of a nucleoside triphosphate |
Subcellular Localization |
|
|
PANTHER Family | ||
PANTHER Subfamily | ||
PANTHER Protein Class | ||
PANTHER Pathway Category | No pathway information available |
7 GO annotations of cellular component
Name | Definition |
---|---|
endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
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. |
nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
phospholipid-translocating ATPase complex | A protein complex that functions as a phospholipid-translocating P-Type ATPase. |
plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
5 GO annotations of molecular function
Name | Definition |
---|---|
ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
ATP hydrolysis activity | Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient. |
ATPase-coupled intramembrane lipid transporter activity | Catalysis of the movement of lipids from one membrane leaflet to the other, driven by ATP hydrolysis. This includes flippases and floppases. |
glycosylceramide flippase activity | Catalysis of the movement of glycosylceramide from the exoplasmic to the cytosolic leaftlet of a membrane, using energy from the hydrolysis of ATP. Glycosylceramides are ceramides containing a functional group derived from a sugar. |
magnesium ion binding | Binding to a magnesium (Mg) ion. |
3 GO annotations of biological process
Name | Definition |
---|---|
cation transport | The directed movement of cations, atoms or small molecules with a net positive charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
ion transmembrane transport | A process in which an ion is transported across a membrane. |
phospholipid translocation | The movement of a phospholipid molecule from one leaflet of a membrane bilayer to the opposite leaflet. |
11 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
O43520 | ATP8B1 | Phospholipid-transporting ATPase IC | Homo sapiens (Human) | EV |
P98198 | ATP8B2 | Phospholipid-transporting ATPase ID | Homo sapiens (Human) | PR |
Q8TF62 | ATP8B4 | Probable phospholipid-transporting ATPase IM | Homo sapiens (Human) | PR |
Q9Y2Q0 | ATP8A1 | Phospholipid-transporting ATPase IA | Homo sapiens (Human) | PR |
O43861 | ATP9B | Probable phospholipid-transporting ATPase IIB | Homo sapiens (Human) | PR |
Q148W0 | Atp8b1 | Phospholipid-transporting ATPase IC | Mus musculus (Mouse) | SS |
P70704 | Atp8a1 | Phospholipid-transporting ATPase IA | Mus musculus (Mouse) | PR |
P98199 | Atp8b2 | Phospholipid-transporting ATPase ID | Mus musculus (Mouse) | PR |
D4AA47 | Atp8b1 | Phospholipid-transporting ATPase IC | Rattus norvegicus (Rat) | SS |
Q9U280 | tat-1 | Phospholipid-transporting ATPase tat-1 | Caenorhabditis elegans | PR |
Q5BL50 | atp8b1 | Phospholipid-transporting ATPase IC | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | SS |
10 | 20 | 30 | 40 | 50 | 60 |
MTEALQWARY | HWRRLIRGAT | RDDDSGPYNY | SSLLACGRKS | SQTPKLSGRH | RIVVPHIQPF |
70 | 80 | 90 | 100 | 110 | 120 |
KDEYEKFSGA | YVNNRIRTTK | YTLLNFVPRN | LFEQFHRAAN | LYFLFLVVLN | WVPLVEAFQK |
130 | 140 | 150 | 160 | 170 | 180 |
EITMLPLVVV | LTIIAIKDGL | EDYRKYKIDK | QINNLITKVY | SRKEKKYIDR | CWKDVTVGDF |
190 | 200 | 210 | 220 | 230 | 240 |
IRLSCNEVIP | ADMVLLFSTD | PDGICHIETS | GLDGESNLKQ | RQVVRGYAEQ | DSEVDPEKFS |
250 | 260 | 270 | 280 | 290 | 300 |
SRIECESPNN | DLSRFRGFLE | HSNKERVGLS | KENLLLRGCT | IRNTEAVVGI | VVYAGHETKA |
310 | 320 | 330 | 340 | 350 | 360 |
MLNNSGPRYK | RSKLERRANT | DVLWCVMLLV | IMCLTGAVGH | GIWLSRYEKM | HFFNVPEPDG |
370 | 380 | 390 | 400 | 410 | 420 |
HIISPLLAGF | YMFWTMIILL | QVLIPISLYV | SIEIVKLGQI | YFIQSDVDFY | NEKMDSIVQC |
430 | 440 | 450 | 460 | 470 | 480 |
RALNIAEDLG | QIQYLFSDKT | GTLTENKMVF | RRCSVAGFDY | CHEENARRLE | SYQEAVSEDE |
490 | 500 | 510 | 520 | 530 | 540 |
DFIDTVSGSL | SNMAKPRAPS | CRTVHNGPLG | NKPSNHLAGS | SFTLGSGEGA | SEVPHSRQAA |
550 | 560 | 570 | 580 | 590 | 600 |
FSSPIETDVV | PDTRLLDKFS | QITPRLFMPL | DETIQNPPME | TLYIIDFFIA | LAICNTVVVS |
610 | 620 | 630 | 640 | 650 | 660 |
APNQPRQKIR | HPSLGGLPIK | SLEEIKSLFQ | RWSVRRSSSP | SLNSGKEPSS | GVPNAFVSRL |
670 | 680 | 690 | 700 | 710 | 720 |
PLFSRMKPAS | PVEEEVSQVC | ESPQCSSSSA | CCTETEKQHG | DAGLLNGKAE | SLPGQPLACN |
730 | 740 | 750 | 760 | 770 | 780 |
LCYEAESPDE | AALVYAARAY | QCTLRSRTPE | QVMVDFAALG | PLTFQLLHIL | PFDSVRKRMS |
790 | 800 | 810 | 820 | 830 | 840 |
VVVRHPLSNQ | VVVYTKGADS | VIMELLSVAS | PDGASLEKQQ | MIVREKTQKH | LDDYAKQGLR |
850 | 860 | 870 | 880 | 890 | 900 |
TLCIAKKVMS | DTEYAEWLRN | HFLAETSIDN | REELLLESAM | RLENKLTLLG | ATGIEDRLQE |
910 | 920 | 930 | 940 | 950 | 960 |
GVPESIEALH | KAGIKIWMLT | GDKQETAVNI | AYACKLLEPD | DKLFILNTQS | KDACGMLMST |
970 | 980 | 990 | 1000 | 1010 | 1020 |
ILKELQKKTQ | ALPEQVSLSE | DLLQPPVPRD | SGLRAGLIIT | GKTLEFALQE | SLQKQFLELT |
1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
SWCQAVVCCR | ATPLQKSEVV | KLVRSHLQVM | TLAIGDGAND | VSMIQVADIG | IGVSGQEGMQ |
1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
AVMASDFAVS | QFKHLSKLLL | VHGHWCYTRL | SNMILYFFYK | NVAYVNLLFW | YQFFCGFSGT |
1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
SMTDYWVLIF | FNLLFTSAPP | VIYGVLEKDV | SAETLMQLPE | LYRSGQKSEA | YLPHTFWITL |
1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
LDAFYQSLVC | FFVPYFTYQG | SDTDIFAFGN | PLNTAALFIV | LLHLVIESKS | LTWIHLLVII |
1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
GSILSYFLFA | IVFGAMCVTC | NPPSNPYWIM | QEHMLDPVFY | LVCILTTSIA | LLPRFVYRVL |
1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
QGSLFPSPIL | RAKHFDRLTP | EERTKALKKW | RGAGKMNQVT | SKYANQSAGK | SGRRPMPGPS |
1390 | 1400 | 1410 | 1420 | ||
AVFAMKSASS | CAIEQGNLSL | CETALDQGYS | ETKAFEMAGP | SKGKES |