Q9Y3R5
Gene name |
DOP1B |
Protein name |
Protein dopey-2 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:9980 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q9Y3R5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9Y3R5-F1 | Predicted | AlphaFoldDB |
1866 variants for Q9Y3R5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA10015818 rs757493767 |
3 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs370668387 CA10015819 |
4 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750506997 CA409891956 |
8 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10015820 rs750506997 |
8 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758330209 CA10015821 |
9 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs780026740 CA10015822 |
10 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1242465778 CA409892033 |
11 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs980640071 CA320328107 |
12 | Y>* | No |
ClinGen TOPMed |
|
| TCGA novel | 14 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1349902608 CA409892134 |
15 | R>K | No |
ClinGen gnomAD |
|
|
CA320328111 rs1034407492 |
18 | S>Y | No |
ClinGen TOPMed |
|
|
CA10015824 rs139410617 |
22 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1285756369 CA409892306 |
22 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10015825 rs780876614 |
24 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA409892376 rs1568993786 |
25 | L>W | No |
ClinGen Ensembl |
|
|
rs1480989560 CA409892489 |
31 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1362514176 CA409892523 |
32 | S>N | No |
ClinGen gnomAD |
|
|
CA409892552 rs1354124142 |
34 | W>R | No |
ClinGen TOPMed |
|
|
CA409892573 rs772691916 |
35 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10015831 rs772691916 |
35 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10015829 rs748872533 |
35 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA10015830 rs772691916 |
35 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA320328167 rs1055305129 |
36 | D>G | No |
ClinGen gnomAD |
|
|
CA10015833 rs764471242 |
36 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs776874299 CA10015834 |
38 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs146034004 CA409892756 |
45 | N>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765512245 COSM3708039 CA10015836 |
45 | N>S | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs146034004 CA10015835 |
45 | N>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1249961213 CA409877597 |
48 | L>F | No |
ClinGen gnomAD |
|
|
CA409877611 rs1339182236 |
49 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA409877612 rs1339182236 |
49 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs751600011 CA10015860 |
49 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs751600011 CA409877614 |
49 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1240518469 CA409877627 |
50 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA10015861 rs573227511 |
51 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs377183346 CA10015862 |
51 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 52 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10015864 rs756020652 |
56 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA409877830 rs1484410311 |
59 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA320297664 rs938543899 |
60 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1372252726 CA409877850 |
60 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1259987273 CA409877882 |
61 | L>P | No |
ClinGen TOPMed |
|
|
rs1172580949 CA409877860 |
61 | L>V | No |
ClinGen gnomAD |
|
|
rs1403740988 CA409877899 |
62 | L>R | No |
ClinGen gnomAD |
|
|
CA409877937 rs1336813478 |
64 | S>C | No |
ClinGen gnomAD |
|
|
CA409878029 rs1380783697 |
67 | L>S | No |
ClinGen gnomAD |
|
|
rs1318661989 CA409878063 |
68 | A>V | No |
ClinGen TOPMed |
|
|
CA409878078 rs1310613290 |
69 | Q>R | No |
ClinGen TOPMed |
|
| TCGA novel | 69 | Q>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 82 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745437368 CA10015869 |
84 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409878509 rs148652238 |
87 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1203653162 CA409878499 |
87 | Y>C | No |
ClinGen gnomAD |
|
|
rs1484298229 COSM1030483 CA409878510 |
88 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1484298229 CA409878515 COSM3841866 |
88 | E>Q | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs762268963 CA320297766 |
89 | I>V | No |
ClinGen gnomAD |
|
|
CA409878624 rs1261236510 |
92 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs781601044 CA10015871 |
93 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs753510887 CA10015873 |
94 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1601404488 CA409878714 |
96 | T>N | No |
ClinGen Ensembl |
|
|
rs773593592 CA10015875 |
97 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1474582657 CA409878807 |
100 | A>D | No |
ClinGen TOPMed |
|
|
rs1388358235 CA409878796 |
100 | A>T | No |
ClinGen gnomAD |
|
|
rs141040361 CA10015876 |
102 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 102 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10015877 rs771059295 |
105 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs764194916 CA10015902 |
107 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs776555944 CA409879609 |
108 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1418674186 CA409879617 |
109 | G>A | No |
ClinGen TOPMed |
|
|
CA409879612 rs1221943146 |
109 | G>R | No |
ClinGen gnomAD |
|
|
CA409879615 COSM319985 rs1221943146 |
109 | G>W | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1569016294 CA409879640 |
111 | F>L | No |
ClinGen Ensembl |
|
|
rs1050403953 CA320299503 |
112 | P>S | No |
ClinGen gnomAD |
|
|
rs764915255 CA10015905 |
113 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10015907 rs758094859 |
115 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1484887007 CA409879692 |
117 | A>T | No |
ClinGen TOPMed |
|
|
CA409879702 rs1424910802 |
117 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA320299552 rs944654306 |
118 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA10015910 rs542433080 |
118 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs944654306 CA409879708 |
118 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA10015913 rs201491075 |
120 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746027069 CA10015915 |
121 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 122 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772436813 CA10015916 |
123 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10015918 rs747145267 |
123 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772436813 CA10015917 |
123 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409879791 rs1601405572 |
124 | V>A | No |
ClinGen Ensembl |
|
|
CA10015920 rs776751796 |
124 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409879801 rs1459048223 |
125 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1459048223 CA409879802 |
125 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA10015923 rs764894734 |
127 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1601405589 CA409879828 |
127 | T>P | No |
ClinGen Ensembl |
|
|
CA10015924 rs773077505 |
128 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762451256 CA10015926 CA409879873 |
129 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409879878 rs147574672 |
130 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754534115 CA10015928 |
130 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs147574672 CA10015927 |
130 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs968001015 CA320299674 |
131 | K>N | No |
ClinGen gnomAD |
|
|
CA409879903 rs1188707331 |
131 | K>R | No |
ClinGen TOPMed |
|
|
CA409879942 rs1401575404 |
133 | F>V | No |
ClinGen gnomAD |
|
|
CA409879986 rs1444538142 |
135 | P>A | No |
ClinGen TOPMed |
|
|
CA409880035 rs1382187232 |
137 | Q>* | No |
ClinGen gnomAD |
|
|
rs754260693 CA10015930 |
140 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409880182 rs1286132532 |
143 | S>G | No |
ClinGen gnomAD |
|
|
CA10015931 rs757806323 |
144 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA10015933 rs746310122 |
145 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs758679723 CA409880238 |
145 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs559705741 CA320299749 |
146 | A>D | No |
ClinGen gnomAD |
|
|
rs747053271 CA10015936 |
148 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747053271 CA409880294 |
148 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1474879689 CA409880324 |
149 | V>A | No |
ClinGen gnomAD |
|
|
CA409880315 rs1342086072 |
149 | V>M | No |
ClinGen TOPMed |
|
|
rs747974617 CA10015939 |
150 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs769771725 CA10015940 |
153 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs957488679 CA320299787 |
153 | P>H | No |
ClinGen gnomAD |
|
|
rs762797534 CA409880432 |
154 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs762797534 CA10015942 |
154 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA10015944 rs774034819 |
158 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA409880506 rs774034819 |
158 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA10015946 rs200319331 |
160 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10015945 rs200319331 |
160 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA409880578 rs1465751081 |
163 | D>A | No |
ClinGen TOPMed |
|
|
rs149183598 CA409880582 |
163 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10015948 rs781367855 |
163 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA320299859 rs781367855 |
163 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1332095910 CA409880593 |
164 | R>K | No |
ClinGen TOPMed |
|
|
CA10015977 rs200685392 |
165 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1380122559 CA409882559 |
167 | A>S | No |
ClinGen gnomAD |
|
|
rs1601412720 CA409882585 |
168 | L>V | No |
ClinGen Ensembl |
|
|
CA409882606 rs1243694433 |
169 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA10015978 rs757201792 |
169 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA409882668 rs1357546985 |
173 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1364315383 CA409882655 |
173 | S>T | No |
ClinGen TOPMed |
|
|
CA409882692 rs1269148472 |
174 | L>R | No |
ClinGen Ensembl |
|
|
CA10015981 rs771601066 |
176 | V>G | No |
ClinGen ExAC |
|
|
CA10015982 rs775247057 |
177 | G>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 179 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409882876 rs1601412758 |
180 | V>G | No |
ClinGen Ensembl |
|
|
rs746670698 CA10015983 |
180 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs372486945 CA10015984 |
183 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148319957 CA10015985 |
184 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374828474 CA10015986 |
185 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374828474 CA10015987 |
185 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10015989 rs759998080 |
186 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774847237 CA320308548 |
186 | W>G | No |
ClinGen ExAC gnomAD |
|
|
CA10015990 rs759998080 |
186 | W>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10015988 rs774847237 |
186 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs752927253 CA10015991 |
187 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1391211587 CA409883115 |
188 | S>G | No |
ClinGen TOPMed |
|
|
rs142091518 CA10015992 RCV000950865 |
188 | S>N | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA320308585 rs968394788 |
188 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA10015993 rs145634540 |
189 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753919420 CA10015994 |
190 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA10015995 rs757181678 |
192 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778871181 CA10015996 |
193 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10015998 rs758170362 |
195 | I>T | No |
ClinGen ExAC TOPMed |
|
|
CA320308636 rs918323037 |
195 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs369824664 CA10015999 |
196 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 196 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10016000 rs373279668 |
198 | P>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10016001 rs768195451 |
199 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA409883482 rs1425782719 |
200 | S>A | No |
ClinGen gnomAD |
|
|
rs1190747344 CA409883553 |
202 | F>S | No |
ClinGen gnomAD |
|
|
rs771546721 CA10016004 |
203 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1465066449 CA409883620 |
205 | G>A | No |
ClinGen gnomAD |
|
|
CA10016008 rs767876389 |
206 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs760886199 CA10016010 |
212 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA409883946 rs1367637801 |
212 | P>S | No |
ClinGen TOPMed |
|
| rs1387444809 | 213 | G>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1012077462 CA320308736 |
213 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA320308720 rs753901076 |
213 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753901076 CA10016012 |
213 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10016014 rs150581929 |
214 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10016015 rs150581929 |
214 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10016013 rs201917816 |
214 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs758280074 CA10016016 |
215 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779829524 CA10016017 |
216 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs1482558929 CA409884212 |
219 | M>I | No |
ClinGen TOPMed |
|
|
CA10016020 rs754641667 |
219 | M>V | No |
ClinGen ExAC |
|
|
CA10016021 rs781037359 |
220 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409884277 rs1488473166 |
221 | G>R | No |
ClinGen gnomAD |
|
|
rs1197348516 CA409884320 |
222 | T>S | No |
ClinGen TOPMed |
|
|
rs201679787 CA10016022 |
223 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200705051 CA10016023 |
223 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 224 | H>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777451213 CA10016024 |
227 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs371761215 CA10016025 |
227 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1294593719 CA409885826 |
228 | V>A | No |
ClinGen gnomAD |
|
|
CA10016047 rs747581348 |
228 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409885883 rs1377619992 |
231 | L>W | No |
ClinGen gnomAD |
|
|
CA10016049 rs201532629 |
232 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs776044800 CA10016050 |
232 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1601415239 CA409885938 |
234 | S>A | No |
ClinGen Ensembl |
|
|
CA10016051 rs770065344 |
234 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA409885976 rs1320846852 |
235 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA10016052 rs773325560 |
235 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA409886047 rs1456387904 |
238 | S>L | No |
ClinGen gnomAD |
|
|
rs996393404 CA320312028 |
239 | N>K | No |
ClinGen TOPMed |
|
|
CA409886099 rs1569023840 |
240 | V>A | No |
ClinGen Ensembl |
|
|
rs759571011 CA10016056 |
241 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA409886107 rs1296361757 |
241 | L>V | No |
ClinGen gnomAD |
|
|
rs1267278057 CA409886131 |
242 | V>A | No |
ClinGen TOPMed |
|
| TCGA novel | 243 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10016057 rs767366201 |
244 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA409886222 rs1279014974 |
247 | L>V | No |
ClinGen TOPMed |
|
|
CA409886242 rs1179798460 |
248 | E>A | No |
ClinGen gnomAD |
|
|
CA10016058 rs752546271 |
249 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755825870 CA10016059 |
250 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 251 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409886350 rs763712532 |
253 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10016061 rs753367036 |
255 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs368212998 CA10016093 |
262 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA320312515 rs149293687 |
263 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149293687 CA10016094 |
263 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1193407948 CA409887093 |
265 | R>I | No |
ClinGen TOPMed gnomAD |
|
|
CA409887091 rs1193407948 |
265 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA409887166 rs1264443481 |
267 | I>N | No |
ClinGen gnomAD |
|
|
CA409887168 rs1264443481 |
267 | I>T | No |
ClinGen gnomAD |
|
|
CA409887181 rs1476710167 |
268 | P>S | No |
ClinGen gnomAD |
|
|
rs1601415592 CA409887190 |
269 | L>V | No |
ClinGen Ensembl |
|
|
CA10016095 rs760710321 |
270 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs117132686 RCV000884651 CA10016097 |
272 | S>Y | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA409887270 rs1569024199 |
273 | D>N | No |
ClinGen Ensembl |
|
|
CA10016098 rs761366016 |
274 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1473879273 CA409887346 |
275 | V>A | No |
ClinGen TOPMed |
|
|
CA320312534 rs199876454 |
275 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199876454 CA10016100 |
275 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376364814 CA10016101 COSM186648 |
276 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs372156556 CA10016102 |
276 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753156977 CA10016103 |
278 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs753156977 CA409887404 |
278 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA320312565 rs753924138 |
280 | A>P | No |
ClinGen Ensembl |
|
|
rs370749068 CA10016106 |
281 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs754298902 CA409887525 CA10016107 |
283 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409887661 rs1264414801 |
290 | M>I | No |
ClinGen gnomAD |
|
|
rs757408942 CA10016108 |
293 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs779008854 CA320312581 |
293 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs779328781 CA10016109 |
294 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA409887765 rs1246665125 |
296 | L>R | No |
ClinGen gnomAD |
|
|
CA320312589 rs748327942 |
297 | Y>H | No |
ClinGen TOPMed |
|
|
CA409887797 rs1569024322 |
298 | A>V | No |
ClinGen Ensembl |
|
|
rs748064738 CA10016133 |
302 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA320318239 rs926776048 |
303 | S>L | No |
ClinGen gnomAD |
|
|
CA409888611 rs1457342194 |
304 | D>V | No |
ClinGen gnomAD |
|
|
CA10016136 rs369344935 |
305 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA320318246 rs905913743 |
307 | G>E | No |
ClinGen TOPMed |
|
|
rs1601416970 CA409888686 |
307 | G>R | No |
ClinGen Ensembl |
|
|
rs139555293 CA10016137 |
308 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10016138 rs773725336 |
309 | T>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs759135564 CA10016139 |
310 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1233625141 CA409888775 |
311 | V>A | No |
ClinGen TOPMed |
|
|
rs545711530 CA10016140 |
311 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA320318274 rs545711530 |
311 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1358219229 CA409888803 |
312 | P>L | No |
ClinGen TOPMed |
|
|
rs1422853739 CA409888894 |
316 | I>M | No |
ClinGen gnomAD |
|
|
CA409888885 rs1168396577 |
316 | I>N | No |
ClinGen gnomAD |
|
|
rs777157544 CA10016141 |
318 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409888971 rs1395202555 |
320 | Y>H | No |
ClinGen gnomAD |
|
|
rs765629333 CA10016143 |
322 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA409889016 rs765629333 |
322 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1356549414 CA409889031 |
322 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA409889050 rs1235566018 |
323 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1276806411 CA409889057 |
324 | S>A | No |
ClinGen gnomAD |
|
|
CA10016144 rs750882040 COSM1030485 |
324 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs199791572 CA10016147 |
328 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1569025509 CA409889127 |
329 | E>* | No |
ClinGen Ensembl |
|
| rs1414264989 | 329 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409889197 rs1200129913 |
332 | S>A | No |
ClinGen gnomAD |
|
|
CA10016148 rs755041429 |
333 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1486500166 CA409889214 |
333 | K>R | No |
ClinGen gnomAD |
|
|
rs781152220 CA10016149 |
334 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA10016165 rs140246092 |
341 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs367977089 CA10016167 |
342 | E>D | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA409889435 rs1434694497 |
342 | E>K | No |
ClinGen TOPMed |
|
|
rs1374286700 CA409889454 |
343 | I>L | No |
ClinGen TOPMed |
|
|
rs756035522 CA10016169 |
343 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA409889458 rs1452866915 |
343 | I>T | No |
ClinGen gnomAD |
|
|
rs144222807 CA10016170 |
345 | H>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1291090894 CA409889493 |
345 | H>R | No |
ClinGen gnomAD |
|
|
CA409889499 rs1569025714 |
346 | Q>* | No |
ClinGen Ensembl |
|
|
CA409889498 rs1569025714 |
346 | Q>E | No |
ClinGen Ensembl |
|
|
CA409889506 rs1245784960 |
346 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA409889502 rs1366125036 |
346 | Q>L | No |
ClinGen gnomAD |
|
|
rs749051674 CA10016172 |
348 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs151106455 CA10016174 |
353 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA409889625 rs1308225296 |
354 | E>A | No |
ClinGen gnomAD |
|
|
CA409889620 rs1470385069 |
354 | E>K | No |
ClinGen TOPMed |
|
|
CA320318501 rs1010798936 |
355 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA10016175 rs745469256 |
356 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10016176 rs569769415 |
356 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs775050572 CA10016177 |
357 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409889657 rs1488120917 COSM1534739 |
357 | H>Y | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA409889691 rs1601417328 |
360 | Y>S | No |
ClinGen Ensembl |
|
|
CA320318539 rs558569206 |
362 | K>E | No |
ClinGen 1000Genomes |
|
|
rs770393670 CA409889725 |
363 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770393670 CA10016179 |
363 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10016180 rs773811175 |
365 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10016181 rs763573404 |
365 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA10016183 rs1294520725 |
366 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA409889779 rs1396833629 |
368 | I>T | No |
ClinGen gnomAD |
|
|
rs774580935 CA10016185 |
368 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA10016186 rs759803688 |
369 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759803688 CA10016187 |
369 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA320318565 rs759803688 |
369 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10016188 rs752756139 |
372 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA409889827 rs1225195736 |
373 | K>R | No |
ClinGen gnomAD |
|
|
CA409889834 rs1356605863 |
374 | P>S | No |
ClinGen TOPMed |
|
|
rs760788425 CA10016189 |
376 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA409891245 rs1288574764 |
377 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA409890174 rs1305122730 |
377 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 377 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409891268 rs1485523811 |
378 | P>L | No |
ClinGen gnomAD |
|
|
CA10016205 rs775651361 |
381 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10016206 rs760909311 |
383 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs764104216 CA10016207 |
385 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA409891492 rs1375084084 |
387 | E>D | No |
ClinGen gnomAD |
|
|
CA10016210 rs765134236 |
387 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 388 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1569028822 CA409891512 |
389 | I>V | No |
ClinGen Ensembl |
|
|
COSM3693784 rs758088044 CA10016212 |
390 | R>G | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA10016214 rs780012981 |
390 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1338315327 CA409891585 |
391 | A>S | No |
ClinGen gnomAD |
|
|
CA409891578 rs1338315327 |
391 | A>T | No |
ClinGen gnomAD |
|
|
CA409891606 rs1399383798 |
392 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 394 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10016215 rs751195206 |
395 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA10016217 rs780843095 |
398 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA10016216 rs150245118 |
398 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA409891747 rs150245118 |
398 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1487575189 CA409891936 |
404 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1487575189 CA409891928 |
404 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA320322288 rs746422278 |
406 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10016221 rs746422278 |
406 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409892069 COSM725214 rs775847530 |
409 | T>A | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs775847530 CA10016223 |
409 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1189551746 CA409892094 |
410 | Q>P | No |
ClinGen gnomAD |
|
|
CA409892123 rs1471815502 |
411 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1471815502 CA409892108 |
411 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1394697806 CA409892144 |
412 | G>R | No |
ClinGen gnomAD |
|
|
CA10016224 rs747170278 |
414 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs747170278 CA409892232 |
414 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409892253 rs1569028938 |
416 | I>L | No |
ClinGen Ensembl |
|
|
rs1399926398 CA409892267 |
416 | I>M | No |
ClinGen gnomAD |
|
|
rs768922238 CA10016225 |
416 | I>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 418 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409893556 rs1437536292 |
420 | K>M | No |
ClinGen gnomAD |
|
|
rs866075140 CA320326121 |
423 | R>K | No |
ClinGen Ensembl |
|
|
rs774268682 CA10016252 |
425 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1017066101 CA320326131 |
425 | A>V | No |
ClinGen Ensembl |
|
|
CA409893618 rs1569031153 |
426 | S>P | No |
ClinGen Ensembl |
|
|
rs759448039 CA10016254 |
426 | S>Y | No |
ClinGen ExAC |
|
|
rs767455893 CA10016255 |
428 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752246408 CA10016256 |
429 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA10016257 rs752246408 |
429 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1167997998 CA409893659 |
430 | K>E | No |
ClinGen gnomAD |
|
|
CA409893664 rs1395303580 |
430 | K>R | No |
ClinGen gnomAD |
|
|
CA10016258 rs764951278 |
431 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10016260 rs774922629 |
432 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs780577213 CA10016261 |
441 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1207194683 CA409893830 |
443 | F>L | No |
ClinGen TOPMed |
|
|
CA10016263 rs371233048 |
444 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA320326255 rs1012969368 |
448 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA320326270 rs1022979835 |
451 | C>Y | No |
ClinGen TOPMed |
|
|
rs748248615 CA409894232 |
454 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs182957792 CA10016264 |
454 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10016266 rs542364079 |
456 | F>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA409894289 rs1204878431 |
456 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs542364079 CA409894308 |
456 | F>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA409895305 rs1453486705 |
458 | P>Q | No |
ClinGen gnomAD |
|
|
rs1388538761 CA409895297 |
458 | P>S | No |
ClinGen gnomAD |
|
|
CA409895308 CA409895307 rs1173384490 |
459 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA320328758 rs1056245510 |
461 | Q>H | No |
ClinGen gnomAD |
|
|
CA10016287 rs140670312 |
462 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs945086367 CA320328791 |
462 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA409895383 rs1382840262 |
463 | Y>* | No |
ClinGen gnomAD |
|
|
CA409895418 rs1233896245 |
465 | V>A | No |
ClinGen gnomAD |
|
|
CA10016290 rs371338959 CA409895410 |
465 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10016291 rs371338959 |
465 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA409895451 rs1349723859 |
466 | R>S | No |
ClinGen gnomAD |
|
|
rs775136760 CA10016292 |
466 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA320328825 rs1047948153 |
467 | N>D | No |
ClinGen TOPMed |
|
|
CA10016293 rs760570178 |
467 | N>I | No |
ClinGen ExAC |
|
|
rs768365405 CA10016294 |
468 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1470051205 CA409895482 |
468 | S>N | No |
ClinGen TOPMed |
|
| TCGA novel | 468 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs535902103 CA10016296 |
469 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA409895531 rs1569032638 |
471 | P>S | No |
ClinGen Ensembl |
|
|
CA409895574 rs1364265297 |
472 | P>R | No |
ClinGen TOPMed |
|
|
CA10016297 rs374472573 |
472 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10016298 RCV000950866 rs138343054 |
473 | P>A | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1193838167 CA409895577 |
473 | P>R | No |
ClinGen gnomAD |
|
|
rs138343054 CA10016300 |
473 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138343054 CA10016299 |
473 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1455803822 CA409895585 |
474 | T>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 474 | T>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10016303 rs199987084 |
474 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 474 | T>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779131422 CA10016306 |
475 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs538538998 CA10016305 |
475 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs182321260 CA10016307 |
476 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10016309 rs143255868 |
477 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs905572702 CA320328908 |
478 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA320328909 rs1002566945 |
479 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs750339936 CA10016311 COSM1713966 |
480 | A>T | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 483 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10016313 rs747793961 |
484 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA409895874 rs1452882458 |
485 | L>P | No |
ClinGen TOPMed |
|
|
CA320328956 rs1035428487 |
487 | D>E | No |
ClinGen TOPMed |
|
|
CA10016314 rs769492617 |
487 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs368171607 CA10016315 |
489 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1246314460 CA409897044 |
494 | Y>C | No |
ClinGen gnomAD |
|
|
CA10016337 rs764759205 |
494 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10016338 rs777116301 |
495 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762310943 CA10016339 |
497 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409897125 rs1415363409 |
499 | T>I | No |
ClinGen gnomAD |
|
|
CA409897134 rs1476476128 |
500 | Q>R | No |
ClinGen TOPMed |
|
|
CA409897151 rs1601427919 |
501 | Y>C | No |
ClinGen Ensembl |
|
|
CA10016344 rs766472488 |
505 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA10016347 rs551407018 |
507 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10016346 rs551407018 |
507 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA409897243 rs141386474 |
509 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10016350 rs777559924 |
510 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA409897280 rs1474436562 |
512 | P>A | No |
ClinGen gnomAD |
|
|
CA10016351 rs748905664 |
515 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA409897357 rs1214646992 |
517 | M>L | No |
ClinGen TOPMed |
|
|
CA409897360 rs1374580287 |
517 | M>T | No |
ClinGen gnomAD |
|
|
CA10016353 rs778476083 |
519 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10016354 rs745422738 |
521 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA320332629 rs982717586 |
521 | S>R | No |
ClinGen Ensembl |
|
|
rs1363584977 CA409897475 |
524 | E>K | No |
ClinGen TOPMed |
|
|
rs769258737 CA10016355 |
525 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs777240649 CA10016356 |
526 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs909775990 CA320332734 |
530 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs372560441 CA10016358 |
531 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763223486 CA10016360 |
532 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs766558644 CA10016361 |
535 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1317936051 CA409897747 |
537 | S>T | No |
ClinGen gnomAD |
|
|
rs751625911 CA10016362 |
538 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA409897778 rs1363860464 |
539 | V>I | No |
ClinGen gnomAD |
|
|
CA409897838 rs1242815166 |
541 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA10016366 rs374820310 |
545 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs915713281 CA320332851 |
547 | D>A | No |
ClinGen TOPMed |
|
|
rs756916041 CA320332860 |
547 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs915713281 CA320332858 |
547 | D>G | No |
ClinGen TOPMed |
|
|
CA10016369 rs147158486 |
547 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs778473271 CA10016371 |
548 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409897982 rs1262986361 |
551 | T>P | No |
ClinGen gnomAD |
|
|
rs771648647 CA10016373 |
552 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771648647 CA320332874 |
552 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10016375 rs149661750 |
553 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA409898016 rs1569034895 |
554 | T>S | No |
ClinGen Ensembl |
|
|
rs183791804 CA10016376 COSM1030488 |
555 | S>L | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA320338890 rs145485914 |
558 | V>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145485914 CA10016397 |
558 | V>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs778101081 CA10016396 |
558 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA320338903 rs751038454 |
560 | G>R | No |
ClinGen Ensembl |
|
|
rs143088335 CA10016399 |
562 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1030489 rs1253886932 CA409898821 |
563 | G>S | endometrium Variant assessed as Somatic; 0.0004161 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 564 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409898841 rs1474220911 |
565 | I>M | No |
ClinGen gnomAD |
|
|
CA10016400 rs746087002 |
568 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 570 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10016403 rs775529085 |
571 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA10016402 rs775529085 |
571 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1165733798 CA409898917 |
573 | I>T | No |
ClinGen gnomAD |
|
|
CA10016405 rs776385915 |
575 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409898937 rs1309081573 |
575 | G>V | No |
ClinGen gnomAD |
|
|
CA320338996 rs980518322 |
576 | D>G | No |
ClinGen Ensembl |
|
|
CA10016407 rs764935139 |
577 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1294836089 CA409898981 |
578 | D>V | No |
ClinGen gnomAD |
|
|
CA10016409 rs140649794 |
578 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144418659 CA10016410 |
579 | A>V | No |
ClinGen ESP ExAC TOPMed |
|
|
rs146572771 CA10016411 |
580 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs574642618 CA320339058 |
583 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs574642618 CA10016416 |
583 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs757851386 CA10016415 |
583 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409899076 rs1282984029 |
586 | S>C | No |
ClinGen gnomAD |
|
|
CA409899108 rs1484583655 |
589 | S>G | No |
ClinGen gnomAD |
|
|
rs1210006122 CA409899114 |
589 | S>T | No |
ClinGen gnomAD |
|
|
rs1601430509 CA409899135 |
591 | I>V | No |
ClinGen Ensembl |
|
|
rs1424972143 CA409899146 |
592 | G>R | No |
ClinGen gnomAD |
|
|
CA10016419 rs775653676 |
593 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs747256366 CA10016420 |
594 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA10016421 rs768563632 |
595 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA409899190 rs1176047455 |
595 | A>V | No |
ClinGen TOPMed |
|
|
rs150192185 CA10016422 |
596 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA409899214 rs1316898570 |
598 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10016425 rs773107187 |
598 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA409899236 rs1471378085 |
601 | S>C | No |
ClinGen TOPMed |
|
|
rs1326055747 CA409899249 |
603 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
CA409899250 rs1326055747 |
603 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA409899263 rs1229357616 |
605 | R>T | No |
ClinGen gnomAD |
|
|
CA320339130 rs945813677 |
606 | V>L | No |
ClinGen TOPMed |
|
|
rs751197325 CA10016428 |
608 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10016429 rs751197325 |
608 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10016430 COSM1236011 rs148132825 |
608 | R>Q | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs752310098 CA10016431 COSM3736285 |
609 | V>F | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA409899290 rs1260482612 |
610 | S>C | No |
ClinGen gnomAD |
|
|
CA409899286 rs1202832137 |
610 | S>T | No |
ClinGen gnomAD |
|
|
rs374748152 CA10016432 COSM1713967 |
613 | R>K | skin [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
rs138745871 CA10016435 |
614 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779439751 CA10016433 |
614 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA10016437 rs367565323 |
615 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs936173872 CA320339230 |
615 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs768977976 CA10016438 |
616 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409899360 rs1225818306 |
617 | W>S | No |
ClinGen TOPMed |
|
|
rs781105615 CA10016440 |
620 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA409899404 rs1157367666 |
620 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1369136350 CA409899417 |
621 | G>E | No |
ClinGen gnomAD |
|
|
CA10016442 rs769794967 |
621 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773234183 CA10016443 |
623 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA409899490 rs1313850686 |
625 | R>S | No |
ClinGen gnomAD |
|
|
CA10016444 rs762995201 |
626 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 628 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 630 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10016446 rs774356544 |
631 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1250752330 CA409899578 |
631 | Q>R | No |
ClinGen gnomAD |
|
|
rs370342108 CA10016451 |
635 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370342108 CA10016450 |
635 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs750874265 CA10016452 |
636 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs758914156 CA10016453 |
640 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780380821 CA10016454 |
640 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1027560537 CA320339405 |
642 | I>M | No |
ClinGen Ensembl |
|
|
CA10016457 rs752001914 |
645 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA409899773 rs1369413520 |
647 | L>P | No |
ClinGen gnomAD |
|
|
CA320339472 rs952007211 |
647 | L>V | No |
ClinGen gnomAD |
|
|
RCV000960317 CA10016458 rs77696046 |
649 | A>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA409899811 rs1305579656 |
651 | G>A | No |
ClinGen Ensembl |
|
|
rs748340455 CA10016460 |
652 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA10016462 rs778003237 |
653 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409899839 rs1314742145 |
654 | S>G | No |
ClinGen TOPMed |
|
|
CA409899842 rs1229440486 |
654 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1601430750 CA409899864 |
656 | S>P | No |
ClinGen Ensembl |
|
|
rs375952900 CA10016464 |
657 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774266554 CA10016465 |
659 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409899898 rs774266554 |
659 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10016467 rs368892066 |
661 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA409899936 rs1320035316 |
663 | R>G | No |
ClinGen gnomAD |
|
|
CA409899955 rs1184411818 |
664 | D>G | No |
ClinGen gnomAD |
|
|
CA320339555 rs371922970 |
665 | R>T | No |
ClinGen ESP TOPMed |
|
|
CA409899996 rs1415704895 |
668 | T>A | No |
ClinGen gnomAD |
|
|
rs143591918 CA10016468 |
668 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA409900022 rs1351847669 |
670 | S>N | No |
ClinGen gnomAD |
|
|
rs1601430798 CA409900040 |
672 | A>P | No |
ClinGen Ensembl |
|
|
rs1460263165 CA409900061 |
674 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1484192942 CA409900085 |
676 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA409900100 rs1371051733 |
677 | S>R | No |
ClinGen gnomAD |
|
|
CA409900102 rs1411635532 |
678 | R>G | No |
ClinGen gnomAD |
|
|
CA10016471 rs147200856 |
678 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10016472 rs147200856 |
678 | R>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA320339606 rs925748087 |
679 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1354200964 CA409900117 |
679 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 681 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 684 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA320339617 rs372584558 |
684 | P>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA409900165 rs1274433779 |
685 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA409900170 rs1410899120 |
685 | K>M | No |
ClinGen gnomAD |
|
|
CA10016476 rs755319553 |
686 | P>R | No |
ClinGen ExAC |
|
|
rs926225796 CA320339664 |
687 | I>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA409900187 rs1207870360 |
688 | T>P | No |
ClinGen gnomAD |
|
|
rs1569037138 CA409900222 |
690 | P>L | No |
ClinGen Ensembl |
|
|
CA10016478 rs752896540 |
690 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs907903364 CA320339706 |
693 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA409900285 rs752465499 |
695 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs777988720 CA10016481 |
695 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777988720 CA10016480 |
695 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10016479 rs752465499 |
695 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs375358385 CA10016482 |
696 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA409900302 rs1367131673 |
697 | S>P | No |
ClinGen TOPMed |
|
|
CA409900321 rs1431409222 |
698 | D>E | No |
ClinGen gnomAD |
|
|
rs745818881 CA10016484 |
699 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA409900338 rs1448119955 |
700 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1374840736 CA409900330 |
700 | F>V | No |
ClinGen gnomAD |
|
|
CA409900367 rs1461378550 |
702 | A>V | No |
ClinGen TOPMed |
|
|
CA409900369 rs1304120835 |
703 | R>* | No |
ClinGen gnomAD |
|
|
rs370193766 CA10016485 |
703 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145155731 CA10016487 |
705 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10016488 rs768343372 |
707 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA320339827 rs373016427 |
708 | K>N | No |
ClinGen Ensembl |
|
|
CA10016489 rs558674662 |
709 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs377533891 CA320339847 |
709 | T>P | No |
ClinGen Ensembl |
|
|
rs370996759 CA409900419 |
710 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs370996759 CA320339861 |
710 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs570775291 CA10016490 |
711 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA320339903 rs200778100 |
712 | S>* | No |
ClinGen 1000Genomes TOPMed |
|
|
CA409900494 rs1569037245 |
715 | P>R | No |
ClinGen Ensembl |
|
|
rs753061957 CA10016495 |
716 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10016498 rs754144742 |
717 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs112867880 CA320339969 |
718 | S>A | No |
ClinGen TOPMed |
|
|
rs757367283 CA10016499 |
718 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA409900967 rs1347030605 |
719 | P>S | No |
ClinGen TOPMed |
|
|
rs146384138 CA10016502 |
721 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10016501 rs745756045 |
721 | S>T | No |
ClinGen ExAC gnomAD |
|
|
COSM1236012 CA409901042 rs1178169408 |
723 | A>T | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA409901057 rs1342889046 |
724 | R>G | No |
ClinGen gnomAD |
|
|
CA10016503 rs779872645 |
725 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409901095 rs61750836 |
726 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10016506 CA10016505 rs768468115 |
727 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10016507 rs201566270 |
728 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs377415890 CA10016508 |
731 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10016510 rs374945304 |
733 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1188603097 CA409901214 |
734 | K>N | No |
ClinGen gnomAD |
|
|
CA10016511 rs772505301 |
736 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA10016513 rs775893174 |
739 | L>R | No |
ClinGen ExAC |
|
|
rs1461286701 CA409901309 |
739 | L>V | No |
ClinGen TOPMed |
|
|
rs1601431092 CA409901342 |
742 | S>P | No |
ClinGen Ensembl |
|
|
CA10016516 rs754058749 |
743 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA409901358 rs1466455483 |
743 | R>K | No |
ClinGen gnomAD |
|
|
rs762133091 CA10016517 |
745 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10016518 rs749264993 |
746 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749264993 CA10016519 |
746 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1204439 rs1192782211 CA409901432 |
746 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine stomach [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs368603051 CA10016521 |
747 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371619671 CA10016522 |
748 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10016524 rs768576763 |
752 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs944842983 CA320340212 |
753 | A>G | No |
ClinGen Ensembl |
|
|
CA409901544 rs575242531 |
753 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs575242531 CA10016526 |
753 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA409901573 rs1277112603 |
755 | H>N | No |
ClinGen gnomAD |
|
|
CA10016528 rs748790139 |
755 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1365869976 CA409901645 |
760 | C>R | No |
ClinGen TOPMed |
|
|
CA10016529 rs770507794 |
762 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 763 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409901678 rs1268904246 |
763 | F>L | No |
ClinGen gnomAD |
|
|
COSM1413983 rs769078821 CA10016532 |
765 | V>A | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA10016531 rs761280703 |
765 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs777207825 CA10016533 |
766 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777207825 CA409901717 |
766 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409901723 rs1203748755 |
767 | L>P | No |
ClinGen TOPMed |
|
|
rs762890737 CA409901731 |
769 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762890737 CA10016537 |
769 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 771 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409901757 rs376971725 |
772 | T>P | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA320340306 rs376971725 |
772 | T>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs751430667 CA10016539 |
773 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754974277 CA10016540 |
774 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs752537336 CA10016542 |
776 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1601431251 CA409901810 |
776 | C>Y | No |
ClinGen Ensembl |
|
|
rs777250678 CA10016544 |
778 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10016545 COSM1204443 rs748993814 |
778 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA10016547 rs141956049 RCV000971136 |
782 | L>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs776367669 CA320340352 |
783 | P>L | No |
ClinGen Ensembl |
|
|
rs1449228521 CA409902116 |
784 | G>A | No |
ClinGen gnomAD |
|
|
rs759572579 CA10016575 |
785 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs373937738 CA10016576 |
786 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs775235145 CA10016577 |
787 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10016578 rs760668299 |
788 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763796149 CA10016579 |
789 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA320342171 rs1047015546 |
792 | S>P | No |
ClinGen Ensembl |
|
|
rs1247224583 CA409902399 |
799 | T>I | No |
ClinGen TOPMed |
|
|
CA10016582 rs765026626 |
800 | I>V | No |
ClinGen ExAC |
|
|
CA409902431 rs1338784971 |
801 | C>R | No |
ClinGen TOPMed |
|
|
CA409902439 rs1277949973 |
801 | C>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 805 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1329159750 CA409902507 |
806 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs757919845 CA10016584 |
807 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA409902526 rs1346438431 |
808 | Y>* | No |
ClinGen gnomAD |
|
|
CA409902520 rs1256523218 |
808 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs780193377 CA320342203 |
812 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780193377 CA10016586 |
812 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756701123 CA10016587 |
814 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10016591 rs779059392 |
821 | I>K | No |
ClinGen ExAC gnomAD |
|
|
CA10016593 rs115067274 |
825 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA320342265 rs963966998 |
826 | S>F | No |
ClinGen Ensembl |
|
|
rs775709171 CA409902650 |
828 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775709171 CA10016594 |
828 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10016596 rs768691750 |
829 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA320342296 rs200016754 |
831 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs371268976 CA10016598 |
831 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10016597 rs200016754 |
831 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA409902670 rs1267165196 |
832 | E>G | No |
ClinGen gnomAD |
|
|
rs976672288 CA320342334 |
833 | D>N | No |
ClinGen Ensembl |
|
|
CA320342366 rs1029935193 |
834 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs750027266 CA10016600 |
835 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409902691 rs1277730403 |
835 | M>T | No |
ClinGen TOPMed |
|
|
CA10016599 rs765134932 |
835 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs149162102 CA10016601 |
837 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA320342408 rs187475888 |
837 | R>H | No |
ClinGen 1000Genomes gnomAD |
|
|
CA10016602 rs142303619 |
838 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1263316118 CA409902715 |
839 | K>E | No |
ClinGen gnomAD |
|
|
CA409902725 rs1332225731 |
840 | S>I | No |
ClinGen TOPMed |
|
|
CA10016603 rs751128648 |
840 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1209676004 CA409902734 |
841 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 843 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409902756 rs756546014 CA409902755 |
844 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs750520568 | 847 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 847 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1411282266 CA409902920 |
848 | G>V | No |
ClinGen gnomAD |
|
| rs750520568 | 848 | G>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10016607 rs575886472 |
852 | M>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA409902957 rs575886472 |
852 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1158041587 CA409902972 |
853 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1391568286 CA409902984 |
854 | T>A | No |
ClinGen gnomAD |
|
|
rs202229502 CA10016609 |
854 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1421356500 CA409902993 |
855 | V>I | No |
ClinGen TOPMed |
|
|
CA10016611 rs202127532 |
858 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10016612 rs779979065 |
860 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs991124271 CA320342493 |
861 | G>V | No |
ClinGen TOPMed |
|
|
rs768653445 CA10016614 |
863 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs573434141 CA320342505 |
865 | V>I | No |
ClinGen 1000Genomes |
|
|
CA409903090 rs1310115386 |
866 | I>L | No |
ClinGen gnomAD |
|
|
rs776569823 CA10016615 |
873 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA409903190 rs1266356114 |
874 | Q>* | No |
ClinGen gnomAD |
|
|
CA10016644 rs762289200 |
875 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA320346392 rs1033260604 |
876 | V>M | No |
ClinGen Ensembl |
|
|
CA409903763 rs1362670864 |
877 | A>G | No |
ClinGen gnomAD |
|
|
rs1304210938 CA409903759 |
877 | A>T | No |
ClinGen gnomAD |
|
|
CA409903764 rs1362670864 |
877 | A>V | No |
ClinGen gnomAD |
|
|
CA10016646 rs140431407 |
878 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs140431407 COSM1534736 CA10016645 |
878 | R>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA320346418 rs200643743 |
879 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA320346428 rs763124210 |
881 | W>* | No |
ClinGen Ensembl |
|
|
CA409903795 rs1482782979 |
882 | N>K | No |
ClinGen TOPMed |
|
|
rs751797793 CA10016649 |
888 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA409903838 rs755210078 |
889 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10016651 rs375875949 |
889 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1030493 CA10016650 rs755210078 |
889 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1287022462 CA409903869 |
893 | V>G | No |
ClinGen TOPMed |
|
|
CA10016652 rs748275980 |
893 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409903873 rs1248371308 |
894 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1476274855 CA409903881 |
894 | T>I | No |
ClinGen gnomAD |
|
|
rs989808277 CA320346453 |
896 | V>E | No |
ClinGen TOPMed |
|
|
rs777803061 CA10016654 |
896 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1385966527 CA409903922 |
897 | E>D | No |
ClinGen gnomAD |
|
|
CA409903930 rs1357211548 |
898 | L>S | No |
ClinGen TOPMed |
|
|
CA10016656 rs200386903 |
899 | F>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10016657 rs774081418 |
900 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA10016659 rs771674244 |
901 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745522861 CA10016658 |
901 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10016660 rs369344650 |
902 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10016661 rs760142446 |
903 | H>R | No |
ClinGen ExAC |
|
|
rs768181600 CA10016662 |
905 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA10016664 rs761634207 |
906 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10016663 rs773638570 |
906 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs761634207 CA320346509 |
906 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10016665 rs199835846 |
907 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM119960 CA10016666 rs541281990 |
908 | T>M | ovary Variant assessed as Somatic; 4.626e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs984715380 CA320346573 |
909 | A>D | No |
ClinGen Ensembl |
|
|
CA10016669 rs373201297 |
910 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10016670 rs199728378 |
910 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778005174 CA10016671 |
911 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 913 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757201310 CA10016673 |
913 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs745692306 CA10016675 |
914 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA10016676 rs771888566 |
915 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779637692 CA10016677 |
918 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1376451713 CA409904283 |
921 | L>P | No |
ClinGen TOPMed |
|
|
CA409904307 rs1305496419 |
923 | P>S | No |
ClinGen gnomAD |
|
|
rs370218700 CA320346634 CA409904337 |
924 | D>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs894548823 CA320346628 |
924 | D>N | No |
ClinGen TOPMed |
|
|
rs772551017 CA10016702 |
926 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs989258993 CA320347597 |
927 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs776063819 CA10016703 |
927 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs138188793 CA10016705 |
928 | R>K | No |
ClinGen ESP ExAC TOPMed |
|
|
rs761756308 CA10016707 |
930 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1398645680 CA409904548 |
931 | A>T | No |
ClinGen gnomAD |
|
|
CA320347681 rs914642967 |
932 | L>Q | No |
ClinGen TOPMed |
|
|
CA10016708 rs553428555 |
932 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs142300961 CA10016710 |
937 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145943200 CA10016711 |
938 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1454348046 CA409904636 |
938 | I>T | No |
ClinGen gnomAD |
|
|
CA409904655 rs1601437904 |
939 | W>C | No |
ClinGen Ensembl |
|
|
CA409904645 rs1364215769 |
939 | W>G | No |
ClinGen gnomAD |
|
|
CA10016712 rs751408065 |
940 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs754791666 CA10016714 |
942 | T>I | No |
ClinGen ExAC |
|
|
rs780670109 CA10016715 |
948 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA10016716 rs138787675 |
949 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138787675 CA10016717 |
949 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA409904778 rs1199456357 |
950 | V>I | No |
ClinGen gnomAD |
|
|
rs777399386 CA10016718 |
951 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409904837 rs1206463236 |
954 | N>I | No |
ClinGen TOPMed gnomAD |
|
|
CA409904832 rs1462415786 |
954 | N>Y | No |
ClinGen gnomAD |
|
|
CA10016719 rs746372746 |
955 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs772745012 CA10016720 |
955 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1477078403 CA409904861 |
956 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1477078403 CA409904863 |
956 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1375344164 CA409904855 |
956 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 961 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs946496422 CA320348645 |
962 | F>L | No |
ClinGen TOPMed |
|
| TCGA novel | 964 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758367915 CA409905002 |
964 | V>L | No |
ClinGen gnomAD |
|
|
rs758367915 CA320348648 |
964 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA409905053 rs1237960529 |
968 | L>V | No |
ClinGen TOPMed |
|
|
rs770107264 CA10016743 |
971 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA409905128 rs1161600638 |
973 | G>S | No |
ClinGen gnomAD |
|
|
rs1217540173 CA409905150 |
974 | A>V | No |
ClinGen TOPMed |
|
|
rs1366436103 CA409905155 |
975 | I>V | No |
ClinGen gnomAD |
|
|
CA10016746 rs372733663 |
976 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1601438924 CA409905176 |
977 | A>T | No |
ClinGen Ensembl |
|
|
rs377163141 CA10016747 |
977 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1373450502 CA409905212 |
979 | A>D | No |
ClinGen gnomAD |
|
|
CA320348686 rs559929390 |
979 | A>S | No |
ClinGen 1000Genomes gnomAD |
|
|
rs559929390 CA409905205 |
979 | A>T | No |
ClinGen 1000Genomes gnomAD |
|
| TCGA novel | 981 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 981 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767212028 CA10016749 |
981 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs187150080 CA10016751 |
985 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA10016752 rs763751996 |
985 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409905316 rs763751996 |
985 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10016750 rs187150080 |
985 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10016753 rs753573977 |
986 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10016757 rs755553332 |
988 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA10016756 rs752094619 |
988 | S>P | No |
ClinGen ExAC |
|
|
CA10016758 rs781392529 |
989 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA10016759 rs748499096 |
990 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 990 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10016760 rs770088392 |
991 | D>Y | No |
ClinGen ExAC |
|
|
rs749526282 CA10016762 |
992 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770985259 CA10016763 |
993 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs560805511 CA320348731 |
994 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA |
|
rs774481718 CA10016764 |
994 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10016766 rs549800328 |
999 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA409905565 rs1378044886 |
1001 | L>V | No |
ClinGen gnomAD |
|
|
rs571218550 CA320348752 |
1002 | L>P | No |
ClinGen 1000Genomes |
|
|
rs1317837109 CA409905581 |
1002 | L>V | No |
ClinGen TOPMed |
|
|
rs1316109463 CA409905625 |
1005 | Q>L | No |
ClinGen gnomAD |
|
|
CA409905644 rs1385477946 |
1006 | P>S | No |
ClinGen gnomAD |
|
|
rs998574739 CA320348754 |
1008 | T>A | No |
ClinGen TOPMed |
|
| TCGA novel | 1008 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1226755727 CA409905694 |
1010 | R>* | No |
ClinGen gnomAD |
|
| TCGA novel | 1010 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409905731 rs763982531 |
1011 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763982531 CA10016770 |
1011 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1461074664 CA409905759 |
1013 | I>F | No |
ClinGen gnomAD |
|
|
CA409905748 rs1461074664 |
1013 | I>L | No |
ClinGen gnomAD |
|
|
CA320348784 rs1028778384 |
1014 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1244699013 CA409905778 |
1014 | H>Y | No |
ClinGen gnomAD |
|
|
CA10016772 rs761611948 |
1015 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1420208679 CA409905821 |
1016 | L>I | No |
ClinGen gnomAD |
|
|
rs1005656517 CA320348809 |
1017 | K>E | No |
ClinGen TOPMed |
|
|
CA409905866 rs1422807211 |
1018 | Q>R | No |
ClinGen TOPMed |
|
|
rs376546092 CA320348813 |
1019 | E>G | No |
ClinGen ESP |
|
|
CA10016774 rs764830861 |
1020 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10016775 RCV000958115 rs7278340 |
1021 | S>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
VAR_034688 CA10016776 rs7278340 |
1021 | S>W | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs546032271 | 1022 | A>= | Variant assessed as Somatic; 0.0001969 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA320348848 rs753151751 |
1023 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10016779 rs753151751 |
1023 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1158814845 CA409906396 |
1024 | D>N | No |
ClinGen gnomAD |
|
|
rs746958221 CA10016807 |
1027 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746958221 CA320350991 |
1027 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10016808 rs768750167 |
1027 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10016810 rs776735459 |
1032 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs780927225 CA320351015 |
1033 | K>R | No |
ClinGen Ensembl |
|
|
COSM1250596 rs1425342834 CA409906545 |
1034 | T>I | oesophagus [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA320351024 rs896881211 |
1037 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA409906600 rs1441664153 |
1039 | A>S | No |
ClinGen gnomAD |
|
|
rs762571576 CA10016815 |
1041 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1030495 rs762571576 CA10016814 |
1041 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA10016818 rs764535651 |
1044 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10016819 rs376539833 |
1049 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1306568680 CA409906740 |
1049 | G>V | No |
ClinGen TOPMed |
|
|
CA409906747 rs1316418324 |
1051 | E>K | No |
ClinGen gnomAD |
|
|
CA10016820 rs757549275 |
1051 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA10016821 rs765531817 |
1052 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1436722948 CA409906754 |
1052 | E>K | No |
ClinGen gnomAD |
|
|
CA10016823 rs201451101 |
1053 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA409906763 rs201451101 |
1053 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA10016822 rs750641679 |
1053 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA409906767 rs780147206 |
1054 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369027784 CA10016825 |
1060 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA409906811 rs369027784 |
1060 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10016826 rs755144906 |
1061 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA409906826 rs1601443849 |
1063 | D>A | No |
ClinGen Ensembl |
|
|
CA409906831 rs1409519781 |
1064 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1409519781 CA409906832 |
1064 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs781211720 CA10016827 |
1064 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA409906833 rs1409519781 |
1064 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs748112344 CA10016828 |
1067 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA409906862 rs1377894797 |
1068 | W>* | No |
ClinGen Ensembl |
|
|
CA10016830 rs777497496 |
1070 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs748940406 CA10016831 |
1072 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs770539922 CA10016832 |
1072 | E>G | No |
ClinGen ExAC |
|
|
rs748940406 CA409906885 |
1072 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA320351092 rs543294572 |
1074 | E>K | No |
ClinGen Ensembl |
|
|
rs774074617 CA10016833 |
1075 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA409906910 rs201829630 |
1076 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10016835 rs201829630 |
1076 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA409906918 rs1195943322 |
1077 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
CA10016838 rs144551122 |
1079 | P>L | Variant assessed as Somatic; 4.627e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs144551122 CA10016837 |
1079 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200894624 CA10016836 |
1079 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA409906939 rs1445632794 |
1080 | L>P | No |
ClinGen gnomAD |
|
|
rs766473651 CA10016841 COSM1413986 |
1081 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA10016842 rs751839608 |
1081 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM579251 rs752679000 CA10016845 |
1083 | E>K | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA409906963 rs1347154225 |
1085 | S>G | No |
ClinGen TOPMed |
|
|
rs146155717 CA10016846 |
1086 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs777602234 CA10016847 |
1087 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA409907004 rs1454425769 |
1091 | Y>H | No |
ClinGen gnomAD |
|
|
CA409907015 rs1316126562 |
1092 | Y>C | No |
ClinGen gnomAD |
|
|
CA320351141 rs185515268 |
1093 | V>M | No |
ClinGen 1000Genomes TOPMed |
|
|
CA409907036 rs1299930942 |
1095 | L>P | No |
ClinGen TOPMed |
|
|
CA409907050 rs1222463107 |
1097 | D>E | No |
ClinGen gnomAD |
|
|
rs770790010 CA10016849 |
1097 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1405549740 CA409907051 |
1098 | R>G | No |
ClinGen TOPMed |
|
|
CA10016850 rs778470689 |
1098 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA320284400 rs962450665 |
1099 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1194553635 CA409874922 |
1101 | H>R | No |
ClinGen gnomAD |
|
|
CA10016854 rs775044221 |
1101 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770249523 CA10016856 |
1102 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10016858 rs201098019 |
1103 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10016859 rs139832395 |
1104 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1105 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759906380 CA10016861 |
1106 | S>G | No |
ClinGen ExAC |
|
|
rs866289452 CA320284413 |
1106 | S>N | No |
ClinGen Ensembl |
|
|
CA10016863 rs376109953 |
1108 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs376109953 CA10016864 |
1108 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1320225120 CA409874980 |
1110 | T>S | No |
ClinGen gnomAD |
|
| TCGA novel | 1111 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10016867 rs756941986 |
1111 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs756941986 CA320284421 |
1111 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10016868 rs778736485 |
1112 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs533144517 CA320284423 |
1113 | A>T | No |
ClinGen Ensembl |
|
|
CA10016870 rs758084751 |
1114 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs746451902 CA10016872 |
1115 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409875007 rs768219773 |
1115 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10016873 rs768219773 |
1115 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10016874 rs773537758 |
1117 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA10016876 VAR_027939 rs4817788 |
1118 | C>G | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs4817788 CA409875022 |
1118 | C>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10016877 rs4817788 |
1118 | C>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145337645 CA10016878 |
1118 | C>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA409875032 rs1454173722 |
1119 | H>L | No |
ClinGen gnomAD |
|
|
CA409875037 rs1160221991 |
1120 | T>A | No |
ClinGen gnomAD |
|
|
CA10016879 rs181800611 |
1120 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10016881 rs368185993 |
1123 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10016882 rs764246346 |
1125 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409875095 rs1569046730 |
1128 | F>S | No |
ClinGen Ensembl |
|
|
rs1188805914 CA409875137 |
1131 | P>L | No |
ClinGen gnomAD |
|
|
CA320284444 rs867186682 |
1131 | P>S | No |
ClinGen Ensembl |
|
|
rs750263886 CA10016888 |
1133 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs374834380 CA10016890 |
1133 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA320284450 rs77213848 |
1134 | D>E | No |
ClinGen Ensembl |
|
|
CA409875153 rs573603717 |
1134 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA10016891 rs573603717 |
1134 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA409875166 rs1175689020 |
1135 | L>P | No |
ClinGen gnomAD |
|
|
rs1250162853 CA409875180 |
1136 | Q>R | No |
ClinGen gnomAD |
|
|
rs544063813 CA409875248 |
1140 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10016894 rs368943642 |
1141 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA409875272 rs771615988 |
1142 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1164141847 CA409875302 |
1146 | A>T | No |
ClinGen gnomAD |
|
|
CA10016898 rs3746866 VAR_027940 |
1149 | P>H | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA320284457 rs3746866 |
1149 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA409875323 rs3746866 |
1149 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10016897 rs146069450 |
1149 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1005585474 CA409875328 |
1150 | M>R | No |
ClinGen TOPMed |
|
|
rs1005585474 CA320284459 |
1150 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs761015908 CA10016902 |
1151 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10016903 rs761015908 |
1151 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10016900 rs775515648 |
1151 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761015908 CA10016901 |
1151 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs764554714 | 1152 | G>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10016905 rs545121355 |
1152 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10016904 rs377051245 |
1152 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10016906 rs373300915 |
1154 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10016907 rs539542768 |
1154 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409875352 rs1601444355 |
1155 | Y>S | No |
ClinGen Ensembl |
|
|
CA10016909 rs751171972 |
1156 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409875368 rs780545605 |
1157 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA10016912 rs150359151 |
1158 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10016913 rs370652870 |
1158 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA409875373 rs370652870 |
1158 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10016914 rs147966121 COSM1030497 |
1159 | S>L | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA409875383 rs1169193347 |
1160 | A>G | No |
ClinGen gnomAD |
|
|
CA10016916 rs772548982 |
1161 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs149496563 CA10016917 |
1163 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768967775 CA10016919 |
1164 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA320284484 rs550112551 |
1165 | F>L | No |
ClinGen gnomAD |
|
|
rs1301635785 CA409875412 |
1166 | Q>E | No |
ClinGen TOPMed |
|
|
CA409875415 rs1404905586 |
1166 | Q>R | No |
ClinGen TOPMed |
|
| TCGA novel | 1167 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1168 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1366670679 CA409875450 |
1171 | K>E | No |
ClinGen TOPMed |
|
|
CA409875459 rs1303238859 |
1172 | A>S | No |
ClinGen TOPMed |
|
|
CA10016921 rs568612774 |
1173 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1406669707 CA409875464 |
1173 | G>R | No |
ClinGen TOPMed |
|
|
rs1295091592 CA409875468 |
1174 | A>T | No |
ClinGen Ensembl |
|
|
CA409875477 rs1569046998 |
1175 | K>T | No |
ClinGen Ensembl |
|
|
rs769865751 CA10016923 |
1177 | S>I | No |
ClinGen ExAC |
|
|
rs773123176 CA10016925 |
1178 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10016926 rs766136017 |
1179 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751420859 CA409875505 |
1180 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144600051 CA10016928 |
1180 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751420859 CA10016927 |
1180 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1460641340 CA409875508 |
1181 | V>M | No |
ClinGen Ensembl |
|
|
rs922027405 CA320284494 |
1183 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs138506748 CA320284498 |
1185 | K>* | No |
ClinGen ESP TOPMed |
|
|
CA409875546 rs1478524066 |
1186 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1196636032 CA409875550 |
1187 | Q>* | No |
ClinGen TOPMed |
|
|
CA409875552 rs1428215263 |
1187 | Q>R | No |
ClinGen gnomAD |
|
|
CA10016930 rs759779144 |
1188 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA409875570 rs1361295918 |
1190 | E>A | No |
ClinGen gnomAD |
|
|
rs201842098 CA10016931 |
1191 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 1193 | S>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759013708 CA10016934 |
1195 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1401993090 CA409875602 |
1195 | D>N | No |
ClinGen gnomAD |
|
|
CA320284506 rs201250977 |
1197 | E>G | No |
ClinGen 1000Genomes |
|
|
CA10016935 rs780255286 |
1198 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA320284510 rs940939073 |
1199 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1569047136 CA409875629 |
1199 | D>N | No |
ClinGen Ensembl |
|
| TCGA novel | 1203 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs145394127 CA10016937 |
1204 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA409875693 rs1261309658 |
1208 | S>A | No |
ClinGen gnomAD |
|
|
CA10016941 CA409875702 rs769862800 |
1209 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1196717126 CA409875706 |
1210 | L>P | No |
ClinGen gnomAD |
|
|
rs375972994 CA10016944 |
1214 | Q>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs995184007 CA320284523 |
1215 | R>Q | No |
ClinGen TOPMed |
|
|
rs1569047208 CA409875738 |
1215 | R>W | No |
ClinGen Ensembl |
|
|
CA10016945 rs368586929 |
1217 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs3746867 CA10016946 VAR_027941 |
1217 | R>S | No |
ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1003071122 CA409875762 |
1219 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1003071122 CA320284526 |
1219 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs759309995 CA10016947 |
1220 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs574422765 CA10016950 |
1221 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA320284533 rs1043078276 |
1222 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs753447130 CA10016952 |
1223 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1220205591 CA409875799 |
1225 | F>L | No |
ClinGen gnomAD |
|
|
rs1281133441 CA409875807 |
1226 | K>Q | No |
ClinGen TOPMed |
|
|
rs1569047289 CA409875818 |
1227 | H>R | No |
ClinGen Ensembl |
|
|
CA409875825 rs1347154893 |
1228 | I>N | No |
ClinGen gnomAD |
|
|
rs1223301690 CA409875838 |
1230 | L>P | No |
ClinGen gnomAD |
|
|
rs141511892 CA10016956 |
1231 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1225046616 CA409875853 |
1233 | Q>* | No |
ClinGen Ensembl |
|
|
CA10016957 rs781480306 |
1233 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374965265 CA10016960 |
1235 | Y>C | No |
ClinGen ESP ExAC TOPMed |
|
|
rs199832658 COSM1030499 CA10016963 |
1236 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA10016964 rs774288636 |
1238 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA10016966 rs771893811 |
1238 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs774288636 CA10016965 |
1238 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs139303926 CA10016968 |
1239 | R>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs139303926 CA320284551 |
1239 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs368837948 CA10016967 |
1239 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763787521 CA10016969 |
1240 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1601444857 CA409875889 |
1240 | V>I | No |
ClinGen Ensembl |
|
|
rs1281284727 CA409875896 |
1241 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10016970 rs776449940 |
1241 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs545986423 CA10016973 |
1242 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10016972 rs764664051 |
1242 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1459378815 CA409875914 |
1244 | F>S | No |
ClinGen gnomAD |
|
|
CA409875924 rs1182270923 |
1245 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs145489414 CA10016974 |
1246 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1417498983 CA409875931 |
1247 | L>V | No |
ClinGen gnomAD |
|
|
CA409875941 rs1444875748 |
1248 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA320284562 rs535603480 |
1250 | V>M | No |
ClinGen gnomAD |
|
|
CA409875969 rs1214673903 |
1253 | T>A | No |
ClinGen gnomAD |
|
|
rs559846721 CA10016977 |
1254 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1335961960 CA409875982 |
1255 | P>A | No |
ClinGen gnomAD |
|
| TCGA novel | 1257 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375348370 CA10016980 |
1258 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs745784845 CA10016982 |
1259 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA10016981 rs778924971 |
1259 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs948324336 CA320284572 |
1260 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1202225886 CA409876029 |
1260 | E>D | No |
ClinGen gnomAD |
|
|
rs948324336 CA409876025 |
1260 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs201452318 CA10016983 |
1260 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201452318 CA409876021 |
1260 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775589916 CA10016984 |
1263 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10016986 rs768572189 |
1267 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA409876141 rs1379374341 |
1267 | M>V | No |
ClinGen TOPMed |
|
|
rs776361859 CA10016987 |
1268 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA320284584 rs201954956 |
1270 | S>N | No |
ClinGen 1000Genomes |
|
|
rs140687352 CA10016989 |
1273 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs772650239 CA10016990 |
1273 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10016992 rs767975476 |
1274 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10016993 rs753207716 |
1277 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1569047570 CA409876382 |
1278 | I>V | No |
ClinGen Ensembl |
|
|
rs756173929 CA10016994 |
1280 | N>FFFF* | No |
ClinGen ExAC |
|
|
rs764502961 CA10016996 |
1282 | L>V | No |
ClinGen ExAC |
|
|
CA409876489 rs757459880 |
1283 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10016999 rs757459880 |
1283 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757459880 CA10016998 |
1283 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376850122 CA10017000 |
1284 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA409876499 rs1489989315 |
1284 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1255706501 CA409876539 |
1286 | Q>P | No |
ClinGen gnomAD |
|
|
CA409876588 rs1244518195 |
1288 | A>G | No |
ClinGen TOPMed |
|
|
rs1282854000 CA409876595 |
1289 | L>F | No |
ClinGen gnomAD |
|
|
CA10017005 rs562345983 |
1292 | Q>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747817831 CA10017006 |
1293 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs769285212 CA10017007 |
1294 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772953079 CA10017008 |
1295 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10017010 rs372753332 |
1296 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA409876777 rs1302461691 |
1297 | K>N | No |
ClinGen TOPMed |
|
|
CA10017012 rs761238530 |
1301 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA10017013 rs201825608 |
1301 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10017014 rs754203134 |
1303 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409876856 rs754203134 |
1303 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409876863 rs1403892522 |
1304 | N>S | No |
ClinGen gnomAD |
|
|
rs569145049 CA10017016 |
1305 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1278276176 CA409876902 |
1307 | P>S | No |
ClinGen gnomAD |
|
|
rs1278276176 CA409876899 |
1307 | P>T | No |
ClinGen gnomAD |
|
|
rs758490622 CA320284609 |
1308 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1308 | H>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758490622 CA10017018 |
1308 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780336294 CA10017020 |
1310 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409876941 rs1489883476 |
1311 | L>F | No |
ClinGen gnomAD |
|
|
rs1555894876 CA409876966 |
1313 | E>* | No |
ClinGen Ensembl |
|
|
rs1268886650 CA409876975 |
1314 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 1316 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1601445196 CA409876983 |
1316 | T>P | No |
ClinGen Ensembl |
|
|
rs755016540 CA10017022 |
1317 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755016540 CA409876992 |
1317 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10017023 rs781214844 |
1319 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1179455870 CA409877004 |
1319 | C>S | No |
ClinGen gnomAD |
|
| TCGA novel | 1321 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10017025 rs755945873 |
1321 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA10017026 rs144636680 |
1322 | F>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10017027 rs749028419 |
1322 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs186967797 CA10017028 |
1324 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1389348128 CA409877043 |
1324 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA409877064 rs1220305735 |
1326 | Y>C | No |
ClinGen TOPMed |
|
|
rs773889925 CA10017029 |
1327 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs551981003 CA10017030 |
1328 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA409877112 rs1266239031 |
1330 | Y>C | No |
ClinGen gnomAD |
|
|
rs145610382 CA10017031 |
1333 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs565804931 CA10017032 |
1334 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 1336 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10017035 rs200971009 |
1336 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1337 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409877252 rs1468623114 |
1340 | G>D | No |
ClinGen TOPMed |
|
|
CA10017037 rs548005772 |
1340 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10017038 rs755785941 |
1341 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs1369732884 CA409877275 |
1341 | N>K | No |
ClinGen gnomAD |
|
|
CA10017039 rs755785941 |
1341 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs752694158 CA10017041 |
1342 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10017040 rs200456435 |
1342 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs143550236 CA10017042 |
1343 | D>H | No |
ClinGen ESP ExAC TOPMed |
|
|
rs920798008 CA320284639 |
1344 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA10017044 rs200255806 CA320284636 |
1344 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200255806 CA10017045 |
1344 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs776941695 CA10017049 |
1345 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA10017047 rs748484979 |
1345 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10017048 rs748484979 |
1345 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10017046 rs748484979 |
1345 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1313445332 CA409877335 |
1346 | V>F | No |
ClinGen gnomAD |
|
|
rs748744185 CA10017050 |
1347 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA10017051 rs189803648 |
1348 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs948272241 CA320284648 |
1348 | S>R | No |
ClinGen gnomAD |
|
|
CA409877375 rs189803648 |
1348 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1332696766 CA409877394 |
1350 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 1352 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409877448 rs1241060147 |
1353 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA10017053 rs763436515 |
1353 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA409877450 rs1241060147 |
1353 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1192478008 CA409877510 |
1355 | I>M | No |
ClinGen gnomAD |
|
|
rs1426282899 CA409877486 |
1355 | I>V | No |
ClinGen gnomAD |
|
|
CA10017055 rs150224037 |
1356 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141017470 CA10017054 |
1356 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145552235 CA10017056 |
1357 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10017058 rs141493086 |
1363 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA409877654 rs1303991502 |
1364 | K>R | No |
ClinGen gnomAD |
|
|
rs771044203 CA10017059 |
1365 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150305493 CA320284659 |
1366 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA409877703 rs1341304860 |
1367 | E>* | No |
ClinGen gnomAD |
|
|
CA409877720 rs1260954261 |
1368 | G>R | No |
ClinGen gnomAD |
|
|
rs763772038 CA10017061 |
1371 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409877832 rs1257760586 |
1372 | E>G | No |
ClinGen gnomAD |
|
|
rs1192364838 CA409877929 |
1375 | H>L | No |
ClinGen gnomAD |
|
|
CA320284663 rs1056850071 |
1376 | S>C | No |
ClinGen Ensembl |
|
|
CA10017064 rs757073367 |
1377 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs778470619 CA10017065 |
1378 | L>Q | No |
ClinGen ExAC |
|
|
CA409877993 rs1364767098 |
1378 | L>V | No |
ClinGen gnomAD |
|
|
CA10017066 rs750085978 |
1379 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs201864877 CA10017067 |
1383 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs371235392 CA320284669 |
1384 | Q>H | No |
ClinGen ESP TOPMed |
|
|
RCV001263282 rs2066960838 |
1385 | E>K | No |
ClinVar dbSNP |
|
|
rs779678302 CA10017068 |
1386 | F>I | No |
ClinGen ExAC gnomAD |
|
|
rs779678302 CA409878199 |
1386 | F>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1387 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1418429622 CA409878262 |
1389 | L>F | No |
ClinGen gnomAD |
|
|
CA409878264 rs778458066 |
1389 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs778458066 CA10017071 |
1389 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA409878333 rs1281685364 |
1392 | S>L | No |
ClinGen gnomAD |
|
|
CA409878371 rs1219631245 |
1393 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1315006848 CA409878397 |
1394 | S>F | No |
ClinGen gnomAD |
|
|
rs1215846699 CA409878418 |
1395 | M>R | No |
ClinGen gnomAD |
|
|
CA10017076 rs375532525 |
1397 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760690530 CA10017078 |
1399 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs764049383 CA10017079 |
1399 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10017080 rs753776119 |
1400 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1289958111 CA409878597 |
1401 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA10017081 rs144780107 |
1401 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10017082 rs144780107 |
1401 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs750071725 CA10017083 |
1402 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1427728071 CA409878610 |
1402 | Y>H | No |
ClinGen gnomAD |
|
|
COSM1740705 CA10017085 rs779407752 |
1403 | G>R | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs751042692 CA10017086 |
1405 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs200485346 CA10017088 |
1406 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10017087 rs754452524 |
1406 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA10017090 rs372487233 |
1407 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA409878736 rs1201226364 |
1408 | H>P | No |
ClinGen Ensembl |
|
|
rs1569048208 CA409878743 |
1408 | H>Q | No |
ClinGen Ensembl |
|
|
rs1201226364 CA409878730 |
1408 | H>R | No |
ClinGen Ensembl |
|
|
rs1569048213 CA409878759 |
1409 | H>Y | No |
ClinGen Ensembl |
|
|
rs144016996 CA10017093 |
1410 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144016996 CA10017092 |
1410 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs775603487 CA10017094 |
1410 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760738793 CA409878862 |
1412 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs760738793 CA10017095 |
1412 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA10017097 rs776536206 |
1415 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1187800338 CA409878918 |
1416 | D>A | No |
ClinGen TOPMed |
|
|
CA409878921 rs1187800338 |
1416 | D>V | No |
ClinGen TOPMed |
|
|
rs1601445730 CA409878945 |
1417 | S>N | No |
ClinGen Ensembl |
|
|
rs61752464 CA10017099 |
1418 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs61752464 CA10017100 |
1418 | L>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs61752464 CA10017098 RCV000958039 |
1418 | L>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA320284698 rs747382359 |
1421 | E>K | No |
ClinGen Ensembl |
|
|
CA320284699 rs759716834 |
1424 | I>V | No |
ClinGen Ensembl |
|
|
rs1259363298 CA409879102 |
1425 | N>S | No |
ClinGen TOPMed |
|
|
CA10017103 rs751186289 |
1427 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1027806194 CA320284704 |
1431 | I>M | No |
ClinGen Ensembl |
|
|
CA10017104 rs754497420 |
1432 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA409879203 rs1239364128 |
1432 | W>R | No |
ClinGen gnomAD |
|
|
rs528207113 CA409879224 |
1434 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs754369476 CA10017106 |
1436 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1285052134 CA409879246 |
1438 | Q>P | No |
ClinGen TOPMed |
|
|
rs1295240798 CA409879255 |
1439 | I>M | No |
ClinGen TOPMed |
|
|
rs373928287 CA10017109 |
1439 | I>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373928287 CA10017110 |
1439 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1247218530 CA409879252 |
1439 | I>V | No |
ClinGen TOPMed |
|
|
CA409879296 rs1445825024 |
1446 | Q>R | No |
ClinGen gnomAD |
|
|
rs1601445829 CA409879305 |
1447 | V>G | No |
ClinGen Ensembl |
|
|
rs1445772570 CA409879313 |
1449 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA10017113 rs144597744 |
1450 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10017114 rs144597744 |
1450 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1394213876 CA409879339 |
1453 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1356449173 CA409879347 |
1454 | H>Y | No |
ClinGen gnomAD |
|
|
CA409879362 rs1229666157 |
1456 | G>A | No |
ClinGen gnomAD |
|
|
rs769669020 CA10017116 |
1457 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769669020 CA409879365 |
1457 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10017115 rs567919644 |
1457 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1384409110 CA409879377 |
1459 | H>R | No |
ClinGen gnomAD |
|
|
rs773030017 CA10017117 |
1460 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409879396 rs1459452935 |
1462 | A>T | No |
ClinGen gnomAD |
|
|
CA10017119 rs762772427 |
1462 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409879405 rs1265315017 |
1463 | E>G | No |
ClinGen TOPMed |
|
|
rs759156303 CA10017121 |
1464 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs967906443 CA320284718 |
1464 | N>S | No |
ClinGen TOPMed |
|
|
CA409879421 rs1228572965 |
1465 | Q>H | No |
ClinGen gnomAD |
|
|
rs767116968 CA10017122 |
1466 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10017123 rs752208901 |
1467 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1171071683 CA409879436 |
1468 | L>V | No |
ClinGen gnomAD |
|
|
rs1337626812 CA409879444 |
1469 | S>F | No |
ClinGen TOPMed |
|
|
rs536893457 CA10017126 |
1470 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10017125 rs536893457 |
1470 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10017124 rs755719370 |
1470 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1281986075 CA409879450 |
1471 | E>* | No |
ClinGen TOPMed |
|
|
rs943283815 CA320284725 |
1473 | Q>R | No |
ClinGen TOPMed |
|
|
CA10017127 rs758772280 |
1476 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA320284727 rs938323033 |
1480 | Q>P | No |
ClinGen Ensembl |
|
|
CA409879529 rs1323593833 |
1482 | I>T | No |
ClinGen TOPMed |
|
|
rs550452193 CA320284729 |
1482 | I>V | No |
ClinGen 1000Genomes |
|
|
CA409879537 rs1340549740 |
1483 | S>I | No |
ClinGen gnomAD |
|
|
rs747222206 CA409879541 |
1484 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747222206 CA10017129 |
1484 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA320284733 rs934010995 |
1484 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1218896665 CA409879546 |
1485 | L>Q | No |
ClinGen gnomAD |
|
|
CA409879556 rs1341928473 |
1486 | Q>H | No |
ClinGen gnomAD |
|
|
CA409879554 rs1259032199 |
1486 | Q>L | No |
ClinGen gnomAD |
|
|
CA10017132 rs139195617 CA409879565 |
1488 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10017131 rs139195617 |
1488 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA409879570 rs1443049905 |
1489 | Q>E | No |
ClinGen gnomAD |
|
|
COSM1732314 rs773188131 CA10017134 |
1492 | P>S | bone [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs749250443 CA10017136 |
1493 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10017137 rs774066841 |
1493 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA10017135 rs749250443 |
1493 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767241374 CA10017139 |
1494 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149947099 CA10017138 |
1494 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs760201205 CA10017141 |
1495 | S>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1496 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10017143 rs200881283 |
1502 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1231594938 CA409879744 |
1503 | V>M | No |
ClinGen gnomAD |
|
|
CA409879757 rs766743225 |
1504 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766743225 CA10017145 |
1504 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1601446058 CA409879752 |
1504 | V>M | No |
ClinGen Ensembl |
|
|
rs751820526 CA10017146 |
1506 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA10017147 rs755364934 |
1507 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1261616561 CA409879863 |
1509 | P>A | No |
ClinGen TOPMed |
|
|
CA10017149 rs752976756 |
1510 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs751495530 CA10017151 |
1512 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409879969 rs370428535 |
1514 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370428535 CA10017153 |
1514 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA10017154 rs761820292 |
1516 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
COSM725209 rs146690528 CA10017155 |
1517 | P>L | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs146690528 CA409880049 |
1517 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA409880057 rs140302792 |
1518 | A>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs140302792 CA10017156 |
1518 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs775264949 CA10017157 |
1522 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA409880201 rs1569048609 |
1524 | T>A | No |
ClinGen Ensembl |
|
|
rs143442760 CA10017158 |
1524 | T>M | No |
ClinGen ESP ExAC gnomAD |
|
|
CA409880233 rs761406534 |
1525 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10017162 rs766753213 |
1525 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs761406534 CA10017161 |
1525 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752075683 CA10017163 |
1526 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA320284763 rs1020686755 |
1528 | P>A | No |
ClinGen TOPMed |
|
|
CA10017165 rs767936629 |
1531 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA320284768 rs140716169 |
1532 | K>M | No |
ClinGen ESP TOPMed |
|
|
CA10017167 rs756343519 |
1532 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA10017168 rs202119759 |
1533 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs753824199 CA10017169 |
1535 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs374457797 CA10017170 |
1537 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1469696212 CA409880592 |
1539 | T>A | No |
ClinGen gnomAD |
|
|
rs564750753 CA10017172 |
1539 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA409880615 rs1222530460 |
1540 | P>R | No |
ClinGen TOPMed |
|
|
CA10017173 rs150476018 |
1540 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA409880624 rs1601446227 |
1541 | F>V | No |
ClinGen Ensembl |
|
|
CA409880634 rs1440264144 |
1542 | V>F | No |
ClinGen gnomAD |
|
|
CA409880650 rs1159888294 |
1543 | V>D | No |
ClinGen gnomAD |
|
|
rs577509412 CA320284780 |
1545 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
CA409880719 rs1457042849 |
1548 | N>K | No |
ClinGen gnomAD |
|
|
rs138558529 CA10017174 |
1550 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1443616096 CA409880754 |
1551 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs768144494 CA10017176 |
1553 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA409880789 rs1376752743 |
1554 | K>T | No |
ClinGen gnomAD |
|
|
rs1569048746 CA409880818 |
1555 | Q>H | No |
ClinGen Ensembl |
|
|
CA10017177 rs776375204 |
1556 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs545449693 CA10017179 |
1558 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs377530449 CA10017181 |
1558 | S>R | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA10017182 rs767846577 |
1559 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10017183 rs775786551 |
1562 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA10017184 rs761136615 |
1563 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409880961 rs1257223292 |
1564 | S>C | No |
ClinGen gnomAD |
|
|
rs908594456 CA320284791 |
1565 | V>F | No |
ClinGen TOPMed |
|
|
CA409880983 rs1417743750 |
1566 | S>N | No |
ClinGen TOPMed |
|
|
rs564314356 CA10017197 |
1568 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs143979060 CA10017198 |
1568 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1056917020 CA320285025 |
1571 | R>S | No |
ClinGen Ensembl |
|
|
rs748822536 CA10017200 |
1572 | E>D | No |
ClinGen ExAC gnomAD |
|
|
COSM1237767 rs772533241 CA10017201 |
1574 | I>V | thyroid [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA637762483 rs1286769297 |
1576 | P>C | No |
ClinGen gnomAD |
|
|
CA409881955 rs1173127478 |
1576 | P>L | No |
ClinGen gnomAD |
|
|
rs147306740 CA320285031 |
1576 | P>S | No |
ClinGen ESP TOPMed |
|
|
CA10017202 rs775984502 |
1580 | L>F | No |
ClinGen ExAC |
|
|
rs1175535872 CA409882072 |
1584 | E>D | No |
ClinGen TOPMed |
|
|
CA10017204 rs532604790 |
1584 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs139137838 CA10017205 |
1587 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10017207 rs765382471 |
1590 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA10017208 rs143153608 |
1594 | L>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA409882255 rs1236036067 |
1595 | L>* | No |
ClinGen TOPMed |
|
|
rs1298956821 CA409882313 |
1597 | Q>* | No |
ClinGen gnomAD |
|
|
rs144738332 CA10017210 |
1599 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10017211 rs751527185 |
1600 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA320285050 rs868038102 |
1601 | N>K | No |
ClinGen Ensembl |
|
|
CA10017213 rs754726559 |
1602 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1381149972 CA409882771 |
1604 | T>I | No |
ClinGen TOPMed |
|
|
rs755912462 CA409882783 |
1605 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10017236 rs755912462 |
1605 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148495535 CA10017235 |
1605 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1569049883 CA409882838 |
1606 | A>T | No |
ClinGen Ensembl |
|
|
CA10017237 rs777350986 |
1607 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs547695110 CA10017238 |
1608 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs369588599 CA10017241 |
1611 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10017240 rs778522851 |
1611 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs567586327 CA10017242 |
1616 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA409883172 rs1309281827 |
1617 | R>G | No |
ClinGen gnomAD |
|
|
CA10017245 rs770293908 |
1624 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA409883534 rs1321469455 |
1625 | P>L | No |
ClinGen gnomAD |
|
|
rs373514422 CA320285277 COSM1030504 |
1626 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs373514422 CA10017247 |
1626 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1204444 CA320285281 rs199678194 |
1626 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes NCI-TCGA |
|
rs1275472859 CA409883557 |
1627 | T>A | No |
ClinGen gnomAD |
|
|
rs1456777122 CA409883581 |
1627 | T>I | No |
ClinGen gnomAD |
|
|
CA10017248 COSM1161407 rs771115208 |
1631 | M>V | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA409883791 rs1471240404 |
1632 | A>T | No |
ClinGen gnomAD |
|
|
CA10017249 rs774440176 |
1633 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs202073192 CA320285287 |
1634 | L>F | No |
ClinGen Ensembl |
|
|
rs1029236051 CA320285289 |
1635 | W>C | No |
ClinGen TOPMed |
|
|
CA409883998 rs1413407779 |
1637 | V>I | No |
ClinGen gnomAD |
|
|
CA409884080 rs1190554582 |
1638 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs936799171 CA320285296 |
1640 | K>M | No |
ClinGen TOPMed gnomAD |
|
|
rs759567596 CA10017251 |
1644 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs188595573 CA10017252 |
1645 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1569050031 CA409884428 |
1647 | P>L | No |
ClinGen Ensembl |
|
|
rs1601447849 CA409884468 |
1649 | D>G | No |
ClinGen Ensembl |
|
|
CA409884459 rs760453207 |
1649 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10017254 rs760453207 |
1649 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA320285311 rs760453207 |
1649 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA320285314 rs150579775 |
1654 | T>A | No |
ClinGen ESP TOPMed |
|
|
rs944282928 CA409884582 |
1654 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs944282928 CA320285317 |
1654 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
CA409884613 rs962066516 |
1655 | K>M | No |
ClinGen TOPMed gnomAD |
|
|
rs962066516 CA320285322 |
1655 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA10017256 rs753453953 |
1656 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs756950440 CA10017257 |
1657 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10017258 rs756950440 |
1657 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749905365 CA10017259 |
1657 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA409884672 rs1198570670 |
1658 | S>A | No |
ClinGen gnomAD |
|
|
rs757850750 CA10017260 |
1658 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1439611565 CA409884687 |
1659 | S>T | No |
ClinGen gnomAD |
|
|
rs139989297 CA10017262 |
1660 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA409884783 rs1453948344 |
1662 | F>S | No |
ClinGen TOPMed |
|
|
rs1475624538 CA409884870 |
1665 | T>A | No |
ClinGen gnomAD |
|
|
CA320285345 rs770253013 |
1665 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10017263 rs770253013 |
1665 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1569050122 CA409884902 |
1666 | K>E | No |
ClinGen Ensembl |
|
|
CA320285349 rs771932178 |
1666 | K>R | No |
ClinGen Ensembl |
|
|
rs753234829 CA10017283 |
1668 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA409886425 rs1395159438 |
1668 | I>V | No |
ClinGen gnomAD |
|
|
rs756640745 CA320286334 |
1669 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1190510380 CA409886458 |
1669 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA10017287 rs778457826 |
1670 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409886552 rs1382467545 |
1671 | K>N | No |
ClinGen gnomAD |
|
|
rs1328617476 CA409886711 |
1676 | L>S | No |
ClinGen gnomAD |
|
|
rs769343399 CA320286355 |
1678 | P>L | No |
ClinGen Ensembl |
|
|
rs373133365 CA10017291 |
1680 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs549775346 CA320286358 |
1681 | A>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs549775346 CA10017293 |
1681 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10017294 rs563208003 |
1682 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA409886929 rs1198048797 |
1684 | G>E | No |
ClinGen gnomAD |
|
|
CA10017296 rs776552195 |
1684 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1253603011 CA409886974 |
1686 | Q>E | No |
ClinGen gnomAD |
|
|
CA409887004 rs1455550699 |
1686 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA409887053 rs1569051890 |
1688 | T>A | No |
ClinGen Ensembl |
|
|
rs1379162059 CA409887064 |
1688 | T>R | No |
ClinGen gnomAD |
|
|
CA10017297 rs761610546 |
1689 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10017300 rs762563683 |
1691 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA10017301 rs766078513 |
1692 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10017302 rs751076399 |
1694 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409887241 rs1308212746 |
1694 | V>L | No |
ClinGen TOPMed |
|
|
rs1443752260 CA409887298 |
1696 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA409887330 rs1175285455 |
1697 | R>I | No |
ClinGen TOPMed |
|
|
rs754541218 CA10017303 |
1699 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA409887390 rs1387410221 |
1699 | K>T | No |
ClinGen gnomAD |
|
|
CA320286405 rs373878915 |
1700 | A>P | No |
ClinGen ESP |
|
|
CA409887437 rs1262760950 |
1701 | Q>* | No |
ClinGen gnomAD |
|
|
rs754457193 CA10017305 |
1701 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs76166909 CA10017306 |
1702 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs779189283 COSM1534732 CA10017307 |
1702 | R>H | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs76166909 CA409887468 |
1702 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1030506 rs144310448 CA10017309 |
1704 | S>G | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs780284551 CA10017310 |
1704 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1183506811 | 1707 | K>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409887563 rs1419192339 |
1707 | K>E | No |
ClinGen gnomAD |
|
|
CA320287614 rs866306206 |
1708 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA320287617 rs769005302 |
1708 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
CA320287608 rs866306206 |
1708 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1216513770 CA409888597 |
1709 | I>F | No |
ClinGen gnomAD |
|
|
rs201458940 CA10017336 |
1711 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10017337 rs146739447 |
1711 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs774145461 CA10017339 |
1712 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA10017340 rs759307048 |
1712 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409888656 rs1211120416 |
1713 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs771689798 CA10017341 |
1714 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA10017343 rs370139890 |
1716 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA320287643 rs901684269 |
1720 | V>G | No |
ClinGen Ensembl |
|
|
COSM1030507 rs140282403 CA10017345 |
1721 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA409888822 rs1393345046 |
1721 | D>V | No |
ClinGen gnomAD |
|
|
CA10017346 rs763289785 |
1725 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1174360705 CA409888899 |
1725 | A>V | No |
ClinGen gnomAD |
|
|
CA409888911 rs1377459581 |
1726 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA409888960 rs1383845885 |
1730 | Q>K | No |
ClinGen gnomAD |
|
|
CA10017348 rs751749863 |
1733 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10017349 rs755242031 |
1736 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA409889146 rs1214654983 |
1740 | E>G | No |
ClinGen gnomAD |
|
|
rs1601452809 CA409889167 |
1741 | V>G | No |
ClinGen Ensembl |
|
|
CA320287670 rs984749741 |
1742 | V>A | No |
ClinGen TOPMed |
|
|
rs756234332 CA10017352 |
1742 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs374467248 CA10017356 |
1743 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA409889216 rs1569053673 |
1744 | R>G | No |
ClinGen Ensembl |
|
|
rs1194721724 CA409889228 |
1744 | R>S | No |
ClinGen TOPMed |
|
|
CA10017357 rs778905432 |
1744 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs745683174 CA10017358 |
1745 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA409889330 rs959431681 |
1750 | G>A | No |
ClinGen gnomAD |
|
|
rs959431681 CA320287692 |
1750 | G>E | No |
ClinGen gnomAD |
|
|
CA10017360 rs561847713 |
1751 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10017375 rs144959709 |
1755 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10017376 rs144959709 |
1755 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1756 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1298280645 CA409891182 |
1757 | L>V | No |
ClinGen gnomAD |
|
|
rs758277791 CA10017378 |
1758 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA10017377 rs745588763 |
1758 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1282360741 CA409891227 |
1760 | I>V | No |
ClinGen TOPMed |
|
|
rs779557556 CA10017380 |
1761 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs746741146 CA409891276 |
1762 | V>L | No |
ClinGen ExAC TOPMed |
|
|
rs746741146 CA10017381 |
1762 | V>M | No |
ClinGen ExAC TOPMed |
|
|
CA10017382 rs768019595 |
1767 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs959975306 CA320298749 |
1772 | R>S | No |
ClinGen gnomAD |
|
|
rs1397911360 CA409892833 |
1774 | P>R | No |
ClinGen gnomAD |
|
|
CA409892868 rs1475033731 |
1776 | P>A | No |
ClinGen gnomAD |
|
|
CA409892877 rs1168491504 |
1777 | A>S | No |
ClinGen gnomAD |
|
|
rs552496678 CA320298760 |
1778 | L>F | No |
ClinGen Ensembl |
|
|
rs1014236035 CA320298758 |
1778 | L>S | No |
ClinGen Ensembl |
|
|
CA10017406 rs769353425 |
1778 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1260879004 CA409892934 |
1779 | Q>* | No |
ClinGen TOPMed |
|
|
CA10017408 rs746416742 |
1780 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10017407 rs779390891 |
1780 | E>Q | No |
ClinGen ExAC |
|
|
CA409892981 rs1331262573 |
1781 | N>K | No |
ClinGen TOPMed |
|
|
COSM478559 rs1172500644 CA409892997 |
1782 | F>L | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA409893001 rs1375636079 |
1783 | S>A | No |
ClinGen gnomAD |
|
|
rs772305824 CA10017409 |
1783 | S>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1787 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10017411 rs760981613 |
1787 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA409893094 rs1271329615 |
1788 | V>I | No |
ClinGen gnomAD |
|
|
rs933811222 CA320298819 |
1789 | L>* | No |
ClinGen TOPMed |
|
|
CA409893129 rs1429055932 |
1789 | L>F | No |
ClinGen TOPMed |
|
|
rs372462902 CA320298821 |
1791 | E>G | No |
ClinGen ESP |
|
|
CA10017413 rs777003460 |
1794 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA320298844 rs530900445 |
1795 | L>F | No |
ClinGen 1000Genomes |
|
|
rs761967672 CA409893202 |
1795 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA10017414 rs761967672 |
1795 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs750352634 CA10017416 |
1796 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA10017415 rs765477154 |
1796 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1213358061 CA409893237 |
1797 | L>V | No |
ClinGen gnomAD |
|
|
CA409893263 rs1321742343 |
1799 | P>A | No |
ClinGen TOPMed |
|
|
CA10017420 rs751328911 |
1800 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs375198543 CA10017419 |
1800 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA409893342 rs1223910570 |
1803 | F>L | No |
ClinGen gnomAD |
|
|
CA409893326 rs1192390625 |
1803 | F>L | No |
ClinGen gnomAD |
|
|
rs111966722 CA10017423 |
1804 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10017424 rs752414959 |
1806 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143047360 CA10017445 CA409893780 |
1808 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA409893792 rs1240048515 |
1808 | M>R | No |
ClinGen gnomAD |
|
|
rs776878788 CA320299124 |
1809 | L>P | No |
ClinGen Ensembl |
|
|
CA10017446 rs756727667 |
1810 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs780593090 CA10017447 |
1814 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747533250 CA10017448 |
1814 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1489437516 CA409893894 |
1815 | R>G | No |
ClinGen gnomAD |
|
|
rs1477734514 CA409894063 |
1821 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA10017450 CA409894084 rs781722454 |
1821 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10017451 rs748543696 |
1823 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409894155 rs748543696 |
1823 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10017465 RCV000958040 rs138528690 |
1832 | T>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA10017466 rs752081299 |
1834 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752081299 CA409896710 |
1834 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781772115 CA10017468 |
1837 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1373829002 CA409896784 |
1839 | V>G | No |
ClinGen gnomAD |
|
|
CA320304884 rs917392774 |
1840 | G>E | No |
ClinGen TOPMed |
|
|
rs1381154119 CA409896829 |
1843 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1313244755 CA409896825 |
1843 | A>S | No |
ClinGen gnomAD |
|
|
rs1381154119 CA409896830 |
1843 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs142668714 CA409896833 |
1844 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142668714 CA10017471 |
1844 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1272938712 CA409896844 |
1845 | S>P | No |
ClinGen TOPMed |
|
|
CA409896887 rs1374138426 |
1849 | Q>K | No |
ClinGen gnomAD |
|
|
rs771019010 CA10017473 |
1850 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs771019010 CA409896906 |
1850 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA409896956 rs1234498936 |
1854 | S>I | No |
ClinGen TOPMed |
|
|
CA10017474 rs376470329 |
1855 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1211231343 CA409896970 |
1855 | R>S | No |
ClinGen gnomAD |
|
|
rs752947102 CA10017475 |
1858 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA10017476 rs771927238 |
1859 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409897065 rs1185267748 |
1860 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs775416329 CA10017477 |
1861 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1450673421 CA409897171 |
1864 | Q>R | No |
ClinGen gnomAD |
|
|
CA10017481 rs761423474 |
1865 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs760453611 CA10017479 |
1865 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10017478 rs760453611 |
1865 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10017480 rs760453611 |
1865 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409897185 rs1177099891 |
1866 | S>P | No |
ClinGen gnomAD |
|
|
rs1186478752 CA409897233 |
1869 | E>A | No |
ClinGen TOPMed |
|
|
CA10017484 rs762558134 |
1870 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA10017483 rs373714259 |
1870 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768080002 CA409897267 |
1871 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753322566 CA10017486 |
1873 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1234531291 CA409897330 |
1876 | L>R | No |
ClinGen gnomAD |
|
|
rs986459408 CA320311686 |
1878 | D>G | No |
ClinGen TOPMed |
|
|
CA409898955 rs1601475438 |
1884 | A>G | No |
ClinGen Ensembl |
|
|
rs1569066948 CA409898974 |
1885 | M>I | No |
ClinGen Ensembl |
|
|
CA409898959 rs1176908069 |
1885 | M>V | No |
ClinGen gnomAD |
|
|
CA409898975 rs1419252462 |
1886 | V>M | No |
ClinGen TOPMed |
|
|
rs1569066957 CA409898986 |
1887 | S>T | No |
ClinGen Ensembl |
|
|
CA320311693 rs775534931 |
1887 | S>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 1888 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs202126758 CA10017506 |
1889 | S>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1417028413 CA409899018 |
1890 | A>T | No |
ClinGen gnomAD |
|
|
rs778986110 CA10017508 |
1890 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA409899038 rs1166219807 |
1891 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA10017510 rs758445211 |
1892 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA409899055 rs1348595373 |
1893 | V>E | No |
ClinGen TOPMed |
|
|
CA409899069 rs1412017678 |
1894 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA10017513 rs768440725 |
1895 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA10017515 rs141524099 |
1895 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10017517 CA10017516 rs150843337 |
1896 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10017518 rs150843337 |
1896 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs773956226 CA10017520 |
1899 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs931193509 CA320311781 |
1900 | S>F | No |
ClinGen TOPMed |
|
|
CA10017551 rs755009447 |
1905 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409899321 rs755009447 |
1905 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA320312746 rs577676576 |
1907 | A>P | No |
ClinGen 1000Genomes |
|
|
CA10017552 rs767683763 |
1908 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1346012183 CA409899379 |
1911 | D>N | No |
ClinGen gnomAD |
|
|
rs1601476576 CA409899424 |
1913 | V>G | No |
ClinGen Ensembl |
|
|
rs778603259 CA320312757 |
1915 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA10017553 rs752740959 COSM1204441 |
1915 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1446340922 CA409899449 |
1916 | S>R | No |
ClinGen gnomAD |
|
|
CA10017554 rs756037721 |
1916 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1202233789 CA409899469 |
1917 | D>G | No |
ClinGen TOPMed |
|
|
rs1249310845 CA409899463 |
1917 | D>N | No |
ClinGen gnomAD |
|
|
CA409899531 rs1260344707 |
1922 | A>T | No |
ClinGen TOPMed |
|
|
CA409899565 rs777855885 |
1924 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10017556 rs749031776 |
1924 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs777855885 CA10017555 |
1924 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA320312772 rs933280754 |
1925 | L>F | No |
ClinGen gnomAD |
|
|
rs778700986 CA10017558 |
1928 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10017559 rs138227303 |
1928 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA10017560 rs771465770 |
1932 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA409900250 rs1438748976 |
1933 | V>A | No |
ClinGen gnomAD |
|
|
CA320316272 rs779571413 |
1933 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA10017561 rs779571413 |
1933 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1935 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770222519 CA10017563 |
1935 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs773724457 CA10017564 |
1936 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409900287 rs1397238014 |
1936 | Y>S | No |
ClinGen TOPMed |
|
|
CA10017567 rs536538834 |
1938 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA10017568 rs536538834 |
1938 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000949103 CA10017569 rs143714922 |
1938 | R>H | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1332627741 CA409900337 |
1939 | N>Y | No |
ClinGen gnomAD |
|
|
CA409900358 rs1464617930 |
1940 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA10017591 rs753800302 |
1942 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1430668165 CA409900440 |
1942 | A>S | No |
ClinGen gnomAD |
|
|
COSM1734380 rs373254458 CA10017593 |
1943 | Y>C | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA10017592 rs200333230 |
1943 | Y>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1313417642 CA409900470 |
1944 | N>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1945 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409900480 rs1194590236 |
1945 | A>T | No |
ClinGen TOPMed |
|
|
rs1342206493 CA409900486 |
1946 | P>A | No |
ClinGen gnomAD |
|
|
rs779745458 CA409900521 |
1949 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10017596 rs779745458 |
1949 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774686631 CA10017595 |
1949 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10017597 rs751281448 |
1951 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs139969090 CA10017599 |
1952 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1200254390 CA409900543 |
1952 | A>V | No |
ClinGen gnomAD |
|
|
rs1331480240 CA409900565 |
1956 | S>N | No |
ClinGen TOPMed |
|
|
CA409900575 rs1263848202 |
1957 | S>F | No |
ClinGen gnomAD |
|
|
CA10017601 rs771973398 |
1960 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772382700 CA10017605 |
1964 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA10017604 rs146275269 |
1964 | T>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs775748005 CA10017606 |
1966 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10017607 rs377583849 |
1966 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10017608 rs377583849 |
1966 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs940707495 CA320316603 |
1973 | L>M | No |
ClinGen Ensembl |
|
|
CA10017613 rs762805059 |
1978 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs948188914 CA320316610 |
1979 | P>L | No |
ClinGen gnomAD |
|
|
CA409900718 rs370211956 |
1980 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10017615 rs370211956 |
1980 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA10017618 rs767161249 |
1984 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs767161249 CA10017617 |
1984 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA10017619 rs201241976 |
1986 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1247483108 CA409900768 |
1987 | S>A | No |
ClinGen gnomAD |
|
|
COSM325200 rs1465443902 CA409900771 |
1987 | S>F | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs953355282 CA320316649 |
1989 | V>F | No |
ClinGen TOPMed |
|
|
CA10017620 rs779467244 |
1989 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA10017621 rs746398996 |
1990 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA409900786 rs1423239822 |
1990 | H>Y | No |
ClinGen gnomAD |
|
|
CA409901266 rs1385274907 |
1991 | W>* | No |
ClinGen gnomAD |
|
|
CA409901252 rs1192065032 |
1991 | W>R | No |
ClinGen gnomAD |
|
|
rs767141074 CA10017635 |
1993 | S>F | No |
ClinGen ExAC |
|
|
rs1269188164 CA409901320 |
1994 | I>V | No |
ClinGen gnomAD |
|
|
rs752412718 CA10017636 |
1995 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1158155334 CA409901391 |
1997 | H>D | No |
ClinGen gnomAD |
|
|
CA10017637 rs150953964 |
1998 | L>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10017638 rs763558472 |
2001 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs903827373 CA320318271 |
2002 | E>G | No |
ClinGen Ensembl |
|
|
rs752675558 CA320318282 |
2003 | K>E | No |
ClinGen Ensembl |
|
|
CA10017639 rs139532526 |
2005 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758788815 CA10017640 |
2008 | D>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2009 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751916782 CA10017642 |
2010 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780714685 CA10017641 |
2010 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760191495 CA10017654 |
2011 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA320319214 CA409901783 rs959039537 |
2012 | M>I | No |
ClinGen TOPMed |
|
|
CA10017656 rs753223463 |
2012 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs761404250 CA10017657 |
2014 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA320319225 rs935854507 |
2014 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs766982010 CA10017658 |
2016 | S>A | No |
ClinGen ExAC |
|
|
CA10017660 rs755363922 |
2019 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409902016 CA10017663 rs753129747 |
2028 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1495181 CA320319248 rs996130220 |
2028 | M>T | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs539253723 CA10017665 |
2032 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10017666 rs371276979 COSM1204440 |
2032 | R>H | liver large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA409902066 rs1601480301 |
2033 | Q>H | No |
ClinGen Ensembl |
|
|
rs1280885097 CA409902100 |
2036 | A>S | No |
ClinGen TOPMed |
|
|
CA10017668 rs778789753 |
2037 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA10017667 rs147782382 |
2037 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA320319305 rs35543976 |
2038 | F>L | No |
ClinGen Ensembl |
|
|
CA409902194 rs1168903696 |
2042 | L>F | No |
ClinGen gnomAD |
|
|
rs1332646404 CA409902252 |
2045 | Y>S | No |
ClinGen gnomAD |
|
|
rs1601480352 CA409902291 |
2046 | H>P | No |
ClinGen Ensembl |
|
|
CA10017670 rs772015205 |
2047 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA320319308 rs772015205 |
2047 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA409902321 rs1310266167 |
2048 | Y>H | No |
ClinGen TOPMed |
|
|
CA10017671 rs775104443 |
2048 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA320319315 rs971569867 |
2049 | L>F | No |
ClinGen TOPMed |
|
|
rs1338745381 CA409902348 |
2049 | L>P | No |
ClinGen gnomAD |
|
|
CA409902340 rs971569867 |
2049 | L>V | No |
ClinGen TOPMed |
|
|
CA409902377 rs1336484392 |
2051 | L>P | No |
ClinGen TOPMed |
|
|
rs768138370 CA10017673 |
2053 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145488940 CA10017698 |
2055 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs760916018 CA409903357 |
2055 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs760916018 CA10017700 |
2055 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145488940 CA10017699 |
2055 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs369681681 CA10017703 |
2058 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs935191724 CA320324920 |
2059 | N>S | No |
ClinGen Ensembl |
|
|
CA409903427 rs1297230515 |
2062 | V>I | No |
ClinGen TOPMed |
|
|
CA409903429 rs1297230515 |
2062 | V>L | No |
ClinGen TOPMed |
|
|
CA409903461 rs1387282844 |
2065 | T>A | No |
ClinGen gnomAD |
|
|
rs1387282844 CA409903463 |
2065 | T>P | No |
ClinGen gnomAD |
|
|
CA10017708 rs747011437 |
2067 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10017707 rs779854413 |
2067 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs202033852 CA320324966 |
2068 | V>I | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1331908574 CA409903540 |
2072 | M>I | No |
ClinGen gnomAD |
|
|
rs1006799434 CA320324967 |
2074 | L>P | No |
ClinGen gnomAD |
|
|
CA10017709 rs754708167 |
2075 | F>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2075 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409903579 rs1569073282 |
2076 | F>L | No |
ClinGen Ensembl |
|
| rs34641375 | 2076 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1379351877 CA409903594 |
2078 | V>I | No |
ClinGen gnomAD |
|
|
rs1353718188 CA409903629 |
2083 | I>M | No |
ClinGen gnomAD |
|
|
CA409903633 rs1290063526 |
2084 | S>Y | No |
ClinGen gnomAD |
|
|
CA10017713 rs769506118 |
2085 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs773056032 CA10017714 |
2086 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA409903653 rs1375067560 |
2087 | H>R | No |
ClinGen TOPMed |
|
| TCGA novel | 2090 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10017718 rs761191720 |
2094 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10017719 rs764535421 |
2095 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs528236649 CA10017720 |
2096 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA320325076 rs1018221407 |
2097 | S>C | No |
ClinGen Ensembl |
|
|
rs756038924 CA10017734 |
2100 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748470118 CA320325618 |
2101 | Q>E | No |
ClinGen Ensembl |
|
|
CA10017735 rs200835895 |
2103 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10017736 rs565974792 |
2104 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409903946 rs1385983150 |
2105 | Q>P | No |
ClinGen gnomAD |
|
| rs779495484 | 2108 | E>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770511494 CA10017738 |
2109 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1314631080 CA409904024 |
2110 | L>V | No |
ClinGen gnomAD |
|
|
rs1319785986 CA409904075 |
2112 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA409904068 rs1299698232 |
2112 | D>G | No |
ClinGen gnomAD |
|
|
rs745369940 CA10017740 |
2113 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs933942782 CA320325656 |
2114 | D>N | No |
ClinGen TOPMed |
|
|
CA320325659 rs1047052221 |
2114 | D>V | No |
ClinGen Ensembl |
|
|
CA320325658 rs933942782 |
2114 | D>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 2116 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409904144 rs1384443202 |
2116 | S>L | No |
ClinGen gnomAD |
|
| TCGA novel | 2117 | L>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10017742 rs777178185 |
2117 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs555614525 CA320326066 |
2119 | S>G | No |
ClinGen Ensembl |
|
|
CA10017764 rs771129069 |
2119 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1157733814 CA409904321 |
2120 | T>I | No |
ClinGen gnomAD |
|
|
rs1416413196 CA409904326 |
2121 | N>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA10017765 rs774497118 |
2122 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2125 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10017766 rs759628463 |
2125 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1291373420 CA409904381 |
2126 | T>A | No |
ClinGen gnomAD |
|
|
CA10017767 rs369366196 |
2126 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10017769 rs760648774 |
2127 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs747461595 CA320326099 CA409904390 |
2127 | K>N | No |
ClinGen Ensembl |
|
|
rs1347915047 CA409904388 |
2127 | K>R | No |
ClinGen gnomAD |
|
|
rs764127504 CA10017770 |
2128 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10017771 rs753607150 |
2130 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10017772 rs771112644 |
2131 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409904411 rs771112644 |
2131 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409904410 rs771112644 |
2131 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409904416 rs1418043185 |
2132 | D>G | No |
ClinGen Ensembl |
|
|
rs1488293233 CA409904420 |
2133 | A>T | No |
ClinGen gnomAD |
|
|
CA409904436 rs1222930190 |
2135 | G>* | No |
ClinGen gnomAD |
|
|
CA320326113 rs202130436 |
2136 | P>L | No |
ClinGen Ensembl |
|
|
rs148107750 CA10017775 |
2136 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA320326122 rs375593206 |
2137 | S>T | No |
ClinGen TOPMed |
|
|
CA10017777 rs201763156 |
2138 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_027942 CA10017780 rs3827183 |
2139 | G>E | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 2140 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409904459 rs1227581545 |
2140 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 2140 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10017781 rs749652610 |
2141 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA409904479 rs1296165226 |
2142 | P>L | No |
ClinGen gnomAD |
|
|
CA320326169 rs370241915 |
2143 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10017782 rs370241915 |
2143 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774609126 CA10017783 |
2146 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA10017784 rs746027031 |
2147 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs772455030 CA10017785 |
2148 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA320326199 rs541915274 |
2150 | L>I | No |
ClinGen 1000Genomes |
|
|
rs746104940 CA320326233 |
2151 | S>* | No |
ClinGen Ensembl |
|
|
rs574292495 CA320326221 |
2151 | S>P | No |
ClinGen Ensembl |
|
|
CA10017788 rs769956298 |
2155 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA409904642 rs1374740540 |
2155 | F>V | No |
ClinGen gnomAD |
|
|
CA320326278 rs762776773 |
2157 | D>E | No |
ClinGen gnomAD |
|
|
rs775295835 CA320326275 |
2157 | D>H | No |
ClinGen Ensembl |
|
|
CA10017790 rs761641284 |
2159 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs764993253 CA10017791 |
2159 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1478996338 CA409904727 |
2161 | S>C | No |
ClinGen Ensembl |
|
|
CA320326295 rs111633288 |
2163 | P>Q | No |
ClinGen Ensembl |
|
|
CA409904777 rs751012880 CA10017796 |
2165 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10017795 rs766025678 |
2165 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA320326341 rs867330585 |
2168 | P>L | No |
ClinGen Ensembl |
|
|
rs754542077 CA10017797 |
2171 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409904868 rs1171907814 |
2172 | I>V | No |
ClinGen Ensembl |
|
|
rs141958834 CA320329261 |
2173 | Y>C | No |
ClinGen ESP TOPMed |
|
|
CA409905069 rs1569075265 |
2173 | Y>H | No |
ClinGen Ensembl |
|
|
CA10017819 rs547046636 |
2179 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs547046636 CA409905207 |
2179 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1202424487 CA409905257 |
2182 | D>N | No |
ClinGen TOPMed |
|
|
CA10017821 rs758896790 |
2184 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA409905335 rs1485005224 |
2185 | G>V | No |
ClinGen TOPMed |
|
|
CA10017822 rs780389528 |
2186 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs542346865 CA10017823 |
2187 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA10017825 rs781095363 |
2190 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773259719 CA10017828 |
2191 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA409905435 rs1243501586 |
2192 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA409905474 rs1291981073 |
2194 | E>G | No |
ClinGen TOPMed |
|
|
rs930749189 CA320329350 |
2195 | N>I | No |
ClinGen Ensembl |
|
|
CA10017829 rs762733974 |
2196 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1312933411 CA409905532 |
2197 | Q>K | No |
ClinGen TOPMed |
|
|
rs200190938 CA320329352 |
2199 | C>W | No |
ClinGen TOPMed |
|
|
rs1429144854 CA409905670 |
2204 | V>I | No |
ClinGen gnomAD |
|
|
rs567010315 CA10017830 |
2205 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA320329379 rs1002435590 |
2209 | L>V | No |
ClinGen Ensembl |
|
|
CA10017833 rs767203110 |
2214 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409905835 rs1319158487 |
2214 | F>V | No |
ClinGen gnomAD |
|
|
CA10017888 rs766998376 |
2217 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1182583536 CA409906006 |
2219 | S>I | No |
ClinGen gnomAD |
|
|
CA409906004 rs1182583536 |
2219 | S>N | Variant assessed as Somatic; 9.247e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1007699695 CA320330874 |
2220 | S>A | No |
ClinGen Ensembl |
|
|
CA10017891 rs767632905 |
2221 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA409906018 rs1163111881 |
2221 | D>E | No |
ClinGen gnomAD |
|
|
rs543343307 CA10017890 |
2221 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs753007073 CA10017892 |
2224 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1426274211 CA409906037 |
2224 | T>S | No |
ClinGen gnomAD |
|
|
CA320330924 rs867638562 |
2228 | E>K | No |
ClinGen Ensembl |
|
|
CA409906085 rs1391932785 |
2230 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1338246158 CA409906090 |
2231 | L>P | No |
ClinGen gnomAD |
|
|
rs191812634 CA10017896 |
2232 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10017897 rs376673997 |
2233 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs376673997 CA10017898 |
2233 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs745645248 CA10017899 |
2233 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376673997 CA409906096 |
2233 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA10017900 rs368780975 |
2235 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 2236 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA409906121 rs1205472471 |
2237 | V>I | No |
ClinGen TOPMed |
|
|
rs1205472471 CA409906122 |
2237 | V>L | No |
ClinGen TOPMed |
|
|
rs993309876 CA320330987 |
2240 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1331681768 CA409906155 |
2242 | Q>* | No |
ClinGen gnomAD |
|
|
rs1276331271 CA409906157 |
2242 | Q>R | No |
ClinGen TOPMed |
|
| TCGA novel | 2243 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10017901 rs774981769 |
2244 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1253303847 CA409906178 |
2245 | P>S | No |
ClinGen gnomAD |
|
|
CA10017902 rs746620868 |
2248 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA409906202 rs746620868 |
2248 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs768456173 CA409906212 |
2250 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1226458598 CA409906267 |
2258 | R>G | No |
ClinGen TOPMed |
|
|
CA409906346 rs1349994812 |
2269 | F>L | No |
ClinGen TOPMed |
|
|
CA10017909 rs767976519 |
2271 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA409906361 rs1293865663 |
2272 | F>I | No |
ClinGen gnomAD |
|
|
CA409906370 rs1228621292 |
2273 | P>A | No |
ClinGen gnomAD |
|
|
rs764310763 CA10017912 |
2273 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1228621292 CA409906369 |
2273 | P>T | No |
ClinGen gnomAD |
|
|
CA409906382 rs1322065442 |
2274 | V>D | No |
ClinGen gnomAD |
|
|
rs1415415722 CA409906388 |
2275 | T>A | No |
ClinGen TOPMed |
|
|
rs758339078 CA10017913 |
2276 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1203093110 CA409906399 |
2276 | D>N | No |
ClinGen gnomAD |
|
|
CA320331098 rs992621899 |
2277 | S>R | No |
ClinGen TOPMed |
|
|
CA10017914 rs373792157 |
2278 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778789793 CA409906451 |
2279 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10017916 rs750422482 |
2280 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs758288400 CA10017917 |
2281 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA10017918 rs779860371 |
2282 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA320331135 rs973273109 |
2283 | Q>* | No |
ClinGen TOPMed |
|
|
rs920486852 CA320331143 |
2284 | L>V | No |
ClinGen TOPMed |
|
|
rs746786992 CA10017919 |
2287 | C>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs768366344 CA10017920 |
2287 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs747660734 CA10017922 |
2289 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1206799452 CA409906603 |
2290 | Y>C | No |
ClinGen TOPMed |
|
|
rs1328376638 CA409906613 |
2291 | D>Y | No |
ClinGen TOPMed |
|
|
rs1268920620 CA409906648 |
2294 | E>K | No |
ClinGen TOPMed |
|
|
rs1601490753 CA409906681 |
2296 | P>A | No |
ClinGen Ensembl |
|
|
rs1287858810 CA409906699 |
2297 | E>G | No |
ClinGen gnomAD |
|
|
CA409906719 rs1385261221 |
2298 | C>S | No |
ClinGen gnomAD |
No associated diseases with Q9Y3R5
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| early endosome membrane | The lipid bilayer surrounding an early endosome. |
| endosome | A vacuole to which materials ingested by endocytosis are delivered. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| Golgi membrane | The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
| trans-Golgi network | The network of interconnected tubular and cisternal structures located within the Golgi apparatus on the side distal to the endoplasmic reticulum, from which secretory vesicles emerge. The trans-Golgi network is important in the later stages of protein secretion where it is thought to play a key role in the sorting and targeting of secreted proteins to the correct destination. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| cognition | The operation of the mind by which an organism becomes aware of objects of thought or perception; it includes the mental activities associated with thinking, learning, and memory. |
| embryonic pattern specification | The process that results in the patterns of cell differentiation that will arise in an embryo. |
| endoplasmic reticulum organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the endoplasmic reticulum. |
| Golgi to endosome transport | The directed movement of substances from the Golgi to early sorting endosomes. Clathrin vesicles transport substances from the trans-Golgi to endosomes. |
| protein transport | The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MDPEEQELLN | DYRYRSYSSV | IEKALRNFES | SSEWADLISS | LGKLNKALQS | NLRYSLLPRR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LLISKRLAQC | LHPALPSGVH | LKALETYEII | FKIVGTKWLA | KDLFLYSCGL | FPLLAHAAVS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VRPVLLTLYE | KYFLPLQKLL | LPSLQAFIVG | LLPGLEEGSE | ISDRTDALLL | RLSLVVGKEV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| FYTALWGSVL | ASPSIRLPAS | VFVVGHINRD | APGREQKYML | GTNHQLTVKS | LRASLLDSNV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LVQRNNLEIV | LFFFPFYTCL | DSNERAIPLL | RSDIVRILSA | ATQTLLRRDM | SLNRRLYAWL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LGSDIKGNTV | VPESEISNSY | EDQSSYFFEK | YSKDLLVEGL | AEILHQKFID | ADVEERHHAY |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LKPFRVLISL | LDKPEIGPQV | VGNLFLEVIR | AFYSYCRDAL | GSDLKLSYTQ | SGNSLISAIK |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ENRNASEIVK | TVNLLITSLS | TDFLWDYMTR | CFEECFRPVK | QRYSVRNSVS | PPPTVSELCA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LLVFLLDVIP | LELYSEVQTQ | YLPQVLGCLV | QPLAEDMEAL | SLPELTHALK | TCFKVLSKVQ |
| 550 | 560 | 570 | 580 | 590 | 600 |
| MPPSYLDTES | TSGTSSPVKG | ENGKIILETK | AVIPGDEDAS | FPPLKSEDSG | IGLSASSPEL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| SEHLRVPRVS | LERDDVWKKG | GSMQRTFLCI | QELIANFASK | NIFGVQLTAS | GEESKSEEPA |
| 670 | 680 | 690 | 700 | 710 | 720 |
| GKRDRDGTQS | LAANDSSRKN | SWEPKPITVP | QFKQMLSDLF | TARGSPFKTK | SSESPSSSPS |
| 730 | 740 | 750 | 760 | 770 | 780 |
| SPARKNGGEW | DVEKVVIDLG | GSREERREAF | AAACHLLLDC | ATFPVYLSEE | ETEQLCATLF |
| 790 | 800 | 810 | 820 | 830 | 840 |
| QLPGAGDSSF | PSWLKSLMTI | CCCVTDCYLQ | NVAISTLLEV | INHSQSLALV | IEDKMKRYKS |
| 850 | 860 | 870 | 880 | 890 | 900 |
| SGHNPFFGKL | QMVTVPPIAP | GILKVIAEKT | DFYQRVARVL | WNQLNKETRE | HHVTCVELFY |
| 910 | 920 | 930 | 940 | 950 | 960 |
| RLHCLAPTAN | ICEDIICHAL | LDPDKGTRLE | ALFRFSVIWH | LTREIQGSRV | TSHNRSFDRS |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| LFVVLDSLAC | TDGAIGAAAQ | GWLVRALSLG | DVARILEPVL | LLLLQPKTQR | TSIHCLKQEN |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| SADDLHRWFN | RKKTSFREAC | AVPEPQESGS | EEHLPLSQFT | TVDREAIWAE | VEKEPEKYPL |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| RGELSEEELP | YYVELPDRTA | HGAPDSSEHT | ESADTSSCHT | DSENTSSFSS | PSHDLQELSN |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| EENCCAPIPM | GGRAYPKRSA | LLAAFQSESF | KAGAKLSLVR | VDSDKTQASE | SFSSDEEADL |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| ELQALTTSRL | LKQQRERQEA | VEALFKHILL | YLQPYDSRRV | LYAFSVLEAV | LKTNPKEFIE |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| AVSRTSMDTS | STAHLNLISN | LLARHQEALI | GQSFYGKLQT | QVPNVCPHSL | LLELLTYLCL |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| SFLRSYYPCY | LKVSHRDILG | NRDVQVKSVE | VLIRIMMQLV | SVAKSSEGKN | VEFIHSLLQR |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| CKVQEFVLLS | LSASMYTSQK | RYGLATAHHG | RALPEDSLFE | ESLINLGQDQ | IWSEHPLQIE |
| 1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
| LLKLLQVLIV | LEHHLGRAHE | EAENQPDLSR | EWQRALNFQQ | AISALQYVQP | HPLTSQGLLV |
| 1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
| SAVVRGLQPA | YGYGMHPAWV | SLVTHSLPYF | GKSLGWTVTP | FVVQICKNLD | DLVKQYESES |
| 1570 | 1580 | 1590 | 1600 | 1610 | 1620 |
| VKLSVSTTSK | RENISPDYPL | TLLEGLTTIS | HFCLLEQANQ | NKKTMAAGDP | ANLRNARNAI |
| 1630 | 1640 | 1650 | 1660 | 1670 | 1680 |
| LEELPRTVNT | MALLWNVLRK | EETQKRPVDL | LGATKGSSSV | YFKTTKTIRQ | KILDFLNPLT |
| 1690 | 1700 | 1710 | 1720 | 1730 | 1740 |
| AHLGVQLTAA | VAAVWSRKKA | QRHSKMKIIP | TASASQLTLV | DLVCALSTLQ | TDTLLHLVKE |
| 1750 | 1760 | 1770 | 1780 | 1790 | 1800 |
| VVKRPPQVKG | GDEKSPLVDI | PVLQFCYAFL | QRLPVPALQE | NFSSLLGVLK | ESVQLNLAPP |
| 1810 | 1820 | 1830 | 1840 | 1850 | 1860 |
| GYFLLLSMLN | DFVTRTPNLE | NKKDQKDLQE | ITQKILEAVG | NIAGSSLEQT | SWLSRNLEVK |
| 1870 | 1880 | 1890 | 1900 | 1910 | 1920 |
| AQPQASLEES | DAEEDLYDAA | AASAMVSSSA | PSVYSVQALS | LLAEVLASLL | DMVYRSDEKE |
| 1930 | 1940 | 1950 | 1960 | 1970 | 1980 |
| KAVPLISRLL | YYVFPYLRNH | SAYNAPSFRA | GAQLLSSLSG | YAYTKRAWRK | EVLELFLDPA |
| 1990 | 2000 | 2010 | 2020 | 2030 | 2040 |
| FFQMDTSCVH | WKSIIDHLLT | HEKTMFKDLM | NMQSSSLKLF | SSFEQKAMLL | KRQAFAVFSG |
| 2050 | 2060 | 2070 | 2080 | 2090 | 2100 |
| ELDQYHLYLP | LIQERLTDNL | RVGQTSIVAA | QMFLFFRVLL | LRISPQHLTS | LWPIMVSELI |
| 2110 | 2120 | 2130 | 2140 | 2150 | 2160 |
| QTFTQLEEDL | KDEDESLRST | NKVNRTKVSV | PDANGPSVGE | IPQSELILYL | SACKFLDTAL |
| 2170 | 2180 | 2190 | 2200 | 2210 | 2220 |
| SFPPDKMPLF | QIYRWAFIPE | VDTEGPAFLS | DVEENHQECK | PHTVRILELL | KLKFGEISSS |
| 2230 | 2240 | 2250 | 2260 | 2270 | 2280 |
| DEITMKSEFP | LLRQHSVSSI | RQLMPFFMTL | NGAFKTQRQL | PADSPGTPFL | DFPVTDSPRI |
| 2290 | |||||
| LKQLEECIEY | DFLEHPEC |