Q6ZW31
PR
Gene name |
SYDE1 |
Protein name |
Rho GTPase-activating protein SYDE1 |
Names |
Synapse defective protein 1 homolog 1, Protein syd-1 homolog 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:85360 |
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 Q6ZW31
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q6ZW31-F1 | Predicted | AlphaFoldDB |
672 variants for Q6ZW31
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA404499521 rs759368203 |
3 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA9261094 rs759368203 |
3 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs769562774 CA9261095 |
4 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769562774 CA404499558 |
4 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404499605 rs1382788069 |
7 | R>K | No |
ClinGen gnomAD |
|
|
rs201230588 CA9261096 |
8 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs935386296 CA305770783 |
10 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA9261097 rs762803794 |
10 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404499691 rs1412500540 |
11 | S>A | No |
ClinGen gnomAD |
|
|
rs764034841 CA9261098 |
12 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1568327075 CA404499722 |
14 | R>W | No |
ClinGen Ensembl |
|
|
rs551211000 CA9261099 |
16 | R>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1329217659 CA404499745 |
16 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs761909227 CA9261100 |
20 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs761909227 CA404499796 |
20 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs761909227 CA404499798 |
20 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1204867970 CA404499804 |
21 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs549899846 CA9261101 |
23 | K>E | No |
ClinGen ExAC gnomAD |
|
| rs1257338693 | 23 | K>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1186049625 CA404499864 |
24 | S>L | No |
ClinGen gnomAD |
|
|
CA9261102 rs750648990 |
25 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1361937829 CA404499912 |
26 | A>D | No |
ClinGen gnomAD |
|
|
CA305770835 COSM3388656 rs369773613 |
26 | A>T | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP gnomAD |
|
CA404499994 rs1452998844 |
29 | R>G | No |
ClinGen gnomAD |
|
|
rs1373836114 CA404500351 |
33 | A>V | No |
ClinGen gnomAD |
|
|
CA9261107 rs755453423 |
34 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA9261108 rs779428186 |
35 | R>H | No |
ClinGen ExAC TOPMed |
|
|
CA404500425 rs1206858150 |
36 | P>A | No |
ClinGen gnomAD |
|
|
CA404500573 rs1249887567 |
40 | P>L | No |
ClinGen gnomAD |
|
|
rs1480344420 CA404500605 |
42 | E>K | No |
ClinGen gnomAD |
|
|
rs770398577 CA9261110 |
44 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1452526493 CA404500788 |
47 | A>G | No |
ClinGen gnomAD |
|
|
CA404500808 rs1192730340 |
48 | P>L | No |
ClinGen gnomAD |
|
|
CA404500824 rs1167864230 |
49 | E>G | No |
ClinGen gnomAD |
|
|
rs552062430 CA9261112 |
49 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA404500857 rs1353630839 |
50 | G>V | No |
ClinGen gnomAD |
|
|
CA9261113 rs769369578 |
51 | S>T | No |
ClinGen ExAC TOPMed |
|
|
CA404500943 rs1278665718 |
54 | G>E | No |
ClinGen gnomAD |
|
|
rs567072793 CA305771786 CA9261114 |
54 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD NCI-TCGA |
|
CA404500965 rs1366357724 |
55 | A>G | No |
ClinGen gnomAD |
|
|
rs912923253 CA305771799 |
57 | G>E | No |
ClinGen TOPMed |
|
|
CA404501000 rs1416946425 |
57 | G>R | No |
ClinGen Ensembl |
|
|
rs1293614402 CA404501017 |
58 | P>T | No |
ClinGen gnomAD |
|
|
CA305771806 rs949767615 |
59 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA404501083 rs1191543737 |
60 | S>I | No |
ClinGen TOPMed |
|
|
rs927110963 CA404501118 |
62 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs927110963 CA305771823 |
62 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1343572365 CA404501152 |
63 | A>E | No |
ClinGen TOPMed |
|
|
CA404501138 rs1467227994 |
63 | A>T | No |
ClinGen gnomAD |
|
|
CA404501216 rs1224559685 |
65 | R>K | No |
ClinGen TOPMed |
|
|
rs1346963773 CA404501260 |
66 | S>R | No |
ClinGen TOPMed |
|
|
rs549245369 CA9261119 |
68 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404501320 rs373565036 |
69 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373565036 CA9261120 |
69 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305771845 rs371689490 |
69 | R>W | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA404501330 rs1424056744 |
70 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs754176815 CA9261123 |
73 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA404501401 rs754176815 |
73 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs755331402 CA9261124 |
78 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1599321486 CA404501553 |
80 | S>G | No |
ClinGen Ensembl |
|
|
rs779330187 CA9261125 |
81 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779330187 CA9261126 |
81 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199923968 CA9261127 |
81 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs999280549 CA404501593 |
82 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs999280549 CA305771884 |
82 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA9261128 rs571269409 |
82 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404501605 rs1396792994 |
83 | W>R | No |
ClinGen gnomAD |
|
| TCGA novel | 85 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9261130 rs745324012 |
86 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404501663 rs1268614268 |
86 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA9261129 rs745324012 |
86 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404501658 rs745324012 |
86 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305771910 rs998221675 |
88 | A>D | No |
ClinGen TOPMed |
|
| TCGA novel | 88 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs897191869 CA305771906 |
88 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs866079116 CA305771928 |
90 | P>T | No |
ClinGen Ensembl |
|
|
CA9261131 rs779713029 |
93 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1483480086 CA404501754 |
94 | T>A | No |
ClinGen gnomAD |
|
|
CA9261133 rs768472992 |
96 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9261134 rs774211809 |
97 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1157604838 CA404501816 |
99 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA404501809 rs1402982149 |
99 | G>R | No |
ClinGen gnomAD |
|
|
CA305771972 rs748095302 |
100 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748095302 CA9261135 |
100 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404501832 rs1454321908 |
101 | P>S | No |
ClinGen TOPMed |
|
|
rs1435791261 CA404501846 |
102 | G>A | No |
ClinGen gnomAD |
|
|
rs772069800 CA404501852 |
103 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs772069800 CA9261136 |
103 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA404501851 rs772069800 |
103 | T>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 105 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 105 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404501893 rs760787783 COSM1711930 |
106 | P>A | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs193020133 CA305772006 |
106 | P>L | No |
ClinGen 1000Genomes |
|
|
CA404501897 rs760787783 |
106 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA9261138 rs760787783 |
106 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs776885468 CA9261140 |
107 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9261141 rs201855801 |
108 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA404501947 rs1169692039 |
108 | G>V | No |
ClinGen TOPMed |
|
|
CA9261144 rs148884509 |
109 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9261143 rs752989406 |
109 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9261145 rs764531796 |
110 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA9261146 rs749967060 |
111 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs755589247 CA9261147 |
112 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs576082354 CA9261149 |
114 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9261148 rs576082354 |
114 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 117 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404502229 rs1599321712 |
121 | R>S | No |
ClinGen Ensembl |
|
|
CA9261151 rs145423526 |
122 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs747894974 CA9261152 |
124 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 125 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404502323 rs1434373646 |
126 | E>K | No |
ClinGen gnomAD |
|
|
CA404502352 rs773248318 |
127 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA9261154 rs773248318 |
127 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs747129100 CA9261155 |
128 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 128 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1278811829 CA404502363 |
128 | P>T | No |
ClinGen gnomAD |
|
|
CA9261157 rs776777984 |
129 | G>A | No |
ClinGen ExAC |
|
|
CA404502433 rs1301016761 |
133 | G>S | No |
ClinGen gnomAD |
|
|
CA404502443 rs1274750909 |
134 | S>L | No |
ClinGen gnomAD |
|
|
CA404502441 rs1205398331 |
134 | S>T | No |
ClinGen gnomAD |
|
|
rs1225534948 CA404502458 |
135 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA404502469 rs1355292669 |
136 | E>G | No |
ClinGen TOPMed |
|
|
CA404502480 rs1435565238 |
137 | S>P | No |
ClinGen gnomAD |
|
|
rs1331147606 CA404502501 |
138 | E>G | No |
ClinGen TOPMed |
|
|
CA404502494 rs1232752071 |
138 | E>Q | No |
ClinGen gnomAD |
|
|
rs767987756 CA305772088 |
139 | G>S | No |
ClinGen Ensembl |
|
|
CA9261159 rs765315949 |
141 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9261160 rs775851703 |
142 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs764625570 CA9261162 |
143 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1195849144 | 143 | Q>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404502572 rs1164360720 |
144 | G>S | No |
ClinGen TOPMed |
|
|
CA305772334 rs969260991 |
146 | A>D | No |
ClinGen gnomAD |
|
|
CA404505355 rs1294912211 |
146 | A>T | No |
ClinGen TOPMed |
|
|
rs969260991 CA404505386 |
146 | A>V | No |
ClinGen gnomAD |
|
|
CA404505409 rs1192725846 |
147 | P>H | No |
ClinGen gnomAD |
|
|
rs1215282417 CA404505394 |
147 | P>T | No |
ClinGen TOPMed |
|
|
CA404505430 rs775657890 |
148 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs866999751 CA305772339 |
148 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA9261179 rs775657890 |
148 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA305772358 rs866360095 |
149 | S>I | No |
ClinGen TOPMed |
|
|
rs867275566 CA305772373 |
149 | S>R | No |
ClinGen gnomAD |
|
|
CA305772375 rs867383908 |
150 | P>H | No |
ClinGen gnomAD |
|
|
rs565941164 CA9261180 |
151 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs866336559 CA305772387 |
151 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs866336559 CA305772390 |
151 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs565941164 CA305772378 |
151 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA305772393 rs935199917 |
152 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA404505520 rs1160270621 |
152 | T>N | No |
ClinGen gnomAD |
|
|
CA404505509 rs935199917 |
152 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA305772400 rs914966603 |
153 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA9261181 rs768993815 |
153 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404505616 rs866767533 |
156 | R>C | No |
ClinGen gnomAD |
|
|
rs774903086 CA305772403 |
156 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs774903086 CA9261182 |
156 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA305772401 rs866767533 |
156 | R>S | No |
ClinGen gnomAD |
|
|
CA305772417 rs866455246 |
157 | T>N | No |
ClinGen Ensembl |
|
|
CA404505682 rs1599322123 |
159 | S>P | No |
ClinGen Ensembl |
|
|
CA404505719 rs1170490701 |
160 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1263075586 CA404505763 |
162 | P>T | No |
ClinGen gnomAD |
|
|
rs1281291074 CA404505782 |
163 | A>G | No |
ClinGen gnomAD |
|
|
rs1216431016 CA404505776 |
163 | A>T | Variant assessed as Somatic; 0.0001141 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA404505795 rs1486804729 |
164 | R>K | No |
ClinGen gnomAD |
|
|
CA404505788 rs1182912276 |
164 | R>W | No |
ClinGen TOPMed |
|
|
CA404505837 rs1208777718 COSM1564649 |
165 | R>C | large_intestine Variant assessed as Somatic; 0.0001165 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA404505850 rs767855988 |
165 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9261184 rs767855988 |
165 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1196576545 CA404505867 |
166 | L>F | No |
ClinGen TOPMed |
|
|
CA404505937 rs1361996276 |
167 | S>C | No |
ClinGen gnomAD |
|
|
rs1183826020 CA404505917 |
167 | S>P | No |
ClinGen gnomAD |
|
|
CA305772439 rs1051327798 |
168 | I>L | No |
ClinGen gnomAD |
|
|
CA404505970 rs1051327798 |
168 | I>V | No |
ClinGen gnomAD |
|
|
rs1376866583 CA404506059 |
170 | M>L | No |
ClinGen gnomAD |
|
|
rs1311921030 CA404506207 |
172 | K>Q | No |
ClinGen gnomAD |
|
|
rs1004355698 CA305772457 |
172 | K>R | No |
ClinGen gnomAD |
|
|
rs1309782346 CA404506234 |
173 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 174 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754569398 CA305772467 |
175 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA404506385 rs1250999204 |
177 | R>P | No |
ClinGen TOPMed |
|
|
rs778670248 CA9261188 |
178 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA305772468 rs898541581 |
178 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA404506508 rs1255640500 |
181 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1480961105 CA404506519 |
182 | L>Q | No |
ClinGen gnomAD |
|
|
CA9261189 rs752378692 |
186 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752378692 CA9261190 |
186 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404506620 rs1245867198 |
187 | A>D | No |
ClinGen TOPMed |
|
|
rs1457296558 CA404506615 |
187 | A>T | No |
ClinGen gnomAD |
|
|
CA404506649 rs1194223826 |
189 | R>S | No |
ClinGen gnomAD |
|
| TCGA novel | 190 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404506705 rs1396610997 |
191 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1396610997 CA404506702 |
191 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1452359181 CA404506710 |
191 | R>H | No |
ClinGen gnomAD |
|
|
rs1452359181 CA404506712 |
191 | R>P | No |
ClinGen gnomAD |
|
|
CA404506693 rs1396610997 |
191 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1022965224 CA404506764 |
193 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA305772473 rs1022965224 |
193 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1394929971 CA404506845 |
195 | A>V | No |
ClinGen gnomAD |
|
|
rs777708878 CA9261191 |
196 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305772474 rs971429186 |
196 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs982009484 CA305772478 |
197 | A>E | No |
ClinGen TOPMed |
|
|
rs982009484 CA404506923 |
197 | A>V | No |
ClinGen TOPMed |
|
|
CA404507027 rs1373568489 |
199 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA404507033 rs1373568489 |
199 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA404507041 rs1300837645 |
200 | V>I | No |
ClinGen gnomAD |
|
|
rs1308357136 CA404507153 |
203 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1034961869 CA305772480 |
204 | Y>D | No |
ClinGen Ensembl |
|
|
CA404507318 rs1250012580 |
205 | H>Q | No |
ClinGen TOPMed |
|
|
CA305772481 rs940575637 |
206 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA404507393 rs1481775472 |
207 | D>H | No |
ClinGen TOPMed |
|
|
CA404507390 rs1481775472 |
207 | D>N | No |
ClinGen TOPMed |
|
|
CA305772497 rs971920408 |
210 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA404507575 rs1466968934 |
211 | G>R | No |
ClinGen gnomAD |
|
| rs1214190235 | 212 | G>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404507612 rs1294618872 |
212 | G>D | No |
ClinGen TOPMed |
|
|
rs751253610 CA9261192 |
213 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA404507623 rs1392756005 |
213 | P>T | No |
ClinGen TOPMed |
|
|
CA305772526 rs536102093 |
214 | G>R | No |
ClinGen 1000Genomes |
|
|
rs757237808 CA9261193 |
215 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1343304480 CA404507721 |
215 | P>T | No |
ClinGen TOPMed |
|
|
CA404507751 rs1461519883 |
216 | A>S | No |
ClinGen gnomAD |
|
|
CA404507789 rs1166195629 |
218 | G>R | No |
ClinGen gnomAD |
|
|
rs1439137247 CA404507904 |
220 | G>A | No |
ClinGen gnomAD |
|
|
rs1051026364 CA305772538 |
223 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA404507949 rs1363136677 |
223 | R>W | No |
ClinGen gnomAD |
|
|
rs1261047994 CA404508015 |
225 | P>L | No |
ClinGen gnomAD |
|
|
rs1452698631 CA404508010 |
225 | P>S | No |
ClinGen TOPMed |
|
|
CA404508028 rs1183784323 |
226 | R>G | No |
ClinGen TOPMed |
|
|
rs1429214190 CA404508045 |
226 | R>S | No |
ClinGen gnomAD |
|
|
rs915061115 CA305772569 |
227 | A>V | No |
ClinGen Ensembl |
|
|
CA404508114 rs1234051526 |
228 | G>S | No |
ClinGen gnomAD |
|
|
rs1274962407 CA404508195 |
230 | L>V | No |
ClinGen gnomAD |
|
|
rs1220516882 CA404508218 |
231 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA404508250 rs1261051377 |
231 | S>T | No |
ClinGen gnomAD |
|
|
CA404508279 rs1486737370 |
232 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA404508316 rs1054584284 |
233 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1054584284 CA305772584 |
233 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA305772576 rs946452543 |
233 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1599322531 CA404508332 |
234 | D>N | No |
ClinGen Ensembl |
|
|
CA305772595 rs776618393 |
236 | P>L | No |
ClinGen gnomAD |
|
|
CA404508429 rs1346103018 |
238 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1455681592 CA404508430 |
238 | R>H | No |
ClinGen gnomAD |
|
|
rs1472448341 CA404508446 |
239 | P>L | No |
ClinGen gnomAD |
|
|
CA404508469 rs1340197648 |
240 | A>D | No |
ClinGen gnomAD |
|
|
CA305772612 rs920926461 |
240 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA404508458 rs920926461 |
240 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs933687965 CA305772617 |
241 | G>E | No |
ClinGen Ensembl |
|
|
CA404508533 rs1415453980 |
242 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA404508537 rs1415453980 |
242 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA404508556 rs1295245114 |
243 | P>L | No |
ClinGen gnomAD |
|
|
rs1353677036 CA404508557 |
244 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA404508591 rs1227625856 |
245 | P>S | No |
ClinGen gnomAD |
|
|
rs1307634536 CA404508624 |
246 | T>I | No |
ClinGen gnomAD |
|
|
rs1599322589 CA920066422 |
248 | F>* | No |
ClinGen Ensembl |
|
|
CA404508670 rs1599322593 |
248 | F>C | No |
ClinGen Ensembl |
|
|
rs1284847710 CA404508696 |
249 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA404508690 rs554738306 |
249 | R>W | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs940270518 CA404508739 |
251 | Y>* | No |
ClinGen TOPMed |
|
|
rs1599322615 CA404508715 |
251 | Y>N | No |
ClinGen Ensembl |
|
|
rs1212360968 CA404508741 |
252 | E>K | No |
ClinGen gnomAD |
|
|
CA404508808 rs745996614 |
254 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA9261195 rs745996614 |
254 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA404508819 rs1421239467 |
255 | P>H | No |
ClinGen gnomAD |
|
|
rs1409444521 CA404508814 |
255 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs2240297 CA9261196 |
256 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1360099791 CA404508846 |
256 | A>V | No |
ClinGen gnomAD |
|
|
rs780311492 CA9261197 |
257 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1435530062 CA404508847 |
257 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 257 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA305772665 rs1013002734 |
258 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs749505844 CA9261198 |
258 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1298674124 CA404508866 |
259 | A>T | No |
ClinGen gnomAD |
|
|
rs1044525425 CA404508896 |
260 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1044525425 CA305772698 |
260 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA404508905 rs1308307059 |
261 | P>R | No |
ClinGen gnomAD |
|
| rs778610532 | 261 | P>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1235971577 CA404508912 |
262 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1277760726 CA404508927 |
263 | A>T | No |
ClinGen gnomAD |
|
|
rs1204679054 CA404508941 |
264 | L>V | No |
ClinGen gnomAD |
|
|
CA404508966 rs1481931311 |
265 | W>* | No |
ClinGen gnomAD |
|
|
CA404508959 rs1233945355 |
265 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1380023481 CA404508998 |
267 | R>C | No |
ClinGen gnomAD |
|
|
rs1263080283 CA404509160 |
274 | G>D | No |
ClinGen TOPMed |
|
|
rs1171279722 CA404509155 |
274 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1031693933 CA305772742 |
275 | L>F | No |
ClinGen Ensembl |
|
|
rs558656737 CA9261201 |
276 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1460268810 CA404509209 |
277 | G>E | No |
ClinGen TOPMed |
|
|
CA404509231 rs1371382200 |
279 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs762036387 CA9261202 |
279 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404509263 rs1272707650 |
280 | P>R | No |
ClinGen gnomAD |
|
|
CA404509316 rs1326903469 |
283 | G>A | No |
ClinGen TOPMed |
|
|
CA404509315 rs1326903469 |
283 | G>E | No |
ClinGen TOPMed |
|
|
rs1305282242 CA404509340 |
284 | A>D | No |
ClinGen gnomAD |
|
|
rs1233265966 CA404509322 |
284 | A>T | No |
ClinGen gnomAD |
|
|
CA404509358 rs1197237330 |
285 | T>A | No |
ClinGen gnomAD |
|
|
CA9261204 rs773562005 |
287 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404509466 rs1195955813 |
288 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA404509459 rs1337445113 |
288 | D>Y | No |
ClinGen gnomAD |
|
|
CA9261205 rs759139503 |
289 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs759139503 CA404509486 |
289 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA305772762 rs1022120018 |
290 | C>F | No |
ClinGen Ensembl |
|
|
rs1464139569 CA404509677 |
298 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA404509759 rs1599322872 |
301 | A>V | No |
ClinGen Ensembl |
|
|
CA305772772 rs923131494 |
302 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1568328457 CA404509793 |
303 | T>R | No |
ClinGen Ensembl |
|
|
rs1395206515 CA404509807 |
304 | G>E | No |
ClinGen gnomAD |
|
|
rs1443748470 CA404509833 |
306 | L>M | No |
ClinGen TOPMed |
|
|
rs954611974 CA305772774 |
307 | R>Q | No |
ClinGen TOPMed |
|
|
rs1321389981 CA404509863 |
308 | G>A | No |
ClinGen gnomAD |
|
|
CA9261206 rs764830617 |
309 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs764830617 CA404509873 |
309 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA305772781 rs975113641 |
310 | P>A | No |
ClinGen Ensembl |
|
|
CA404509958 rs1430949415 |
314 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1047840608 CA305772784 |
316 | D>G | No |
ClinGen Ensembl |
|
|
CA305772783 rs920983921 |
316 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA404509996 rs1254224370 |
318 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs955143934 CA305772786 |
318 | T>S | No |
ClinGen Ensembl |
|
|
rs1337678906 CA404510142 |
325 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1361060974 CA404510165 |
326 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA9261207 rs376467543 |
327 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs940279215 CA305772802 |
327 | R>S | No |
ClinGen Ensembl |
|
|
CA404510198 rs1336172502 |
328 | L>V | No |
ClinGen gnomAD |
|
|
rs911209807 CA305772804 |
330 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA305772816 rs942717414 |
330 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA305772821 rs560670595 |
331 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA gnomAD |
|
rs920090089 CA305772826 |
331 | A>V | No |
ClinGen Ensembl |
|
|
CA305772846 rs948897545 |
335 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA404510344 rs1184542620 |
335 | A>P | No |
ClinGen TOPMed |
|
|
rs948897545 CA404510364 |
335 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA404510379 rs1418447916 |
336 | W>* | No |
ClinGen gnomAD |
|
|
rs1230755529 CA404510368 |
336 | W>R | No |
ClinGen TOPMed |
|
|
CA305772865 rs376378930 |
338 | P>A | No |
ClinGen Ensembl |
|
|
CA404510461 rs1161415846 |
340 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1389675179 CA404510539 |
342 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1401079533 CA404510560 |
343 | H>Q | No |
ClinGen gnomAD |
|
|
CA404510568 rs1568328622 |
344 | R>Q | No |
ClinGen Ensembl |
|
|
rs1044595319 CA404510565 |
344 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA404510666 rs1441732907 |
350 | T>A | No |
ClinGen TOPMed |
|
|
rs1599323067 CA404510696 |
351 | V>L | No |
ClinGen Ensembl |
|
|
CA9261211 rs756966468 |
352 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA404510768 rs1398823995 |
354 | P>L | No |
ClinGen gnomAD |
|
|
rs1309889792 CA404510755 |
354 | P>S | No |
ClinGen TOPMed |
|
|
CA404510775 rs1422847418 |
355 | T>A | No |
ClinGen TOPMed |
|
|
rs370947226 COSM4138203 CA9261212 |
355 | T>M | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs907398883 CA305772902 |
357 | F>S | No |
ClinGen TOPMed |
|
|
rs1002959192 CA305772903 |
358 | R>Q | No |
ClinGen gnomAD |
|
|
rs947403267 CA305773064 |
359 | G>V | No |
ClinGen Ensembl |
|
|
CA305773067 rs938835404 |
363 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA9261228 TCGA novel rs761725341 |
363 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC TOPMed gnomAD |
|
CA404511333 rs565872413 |
366 | A>P | No |
ClinGen 1000Genomes gnomAD |
|
|
CA305773091 rs565872413 |
366 | A>T | No |
ClinGen 1000Genomes gnomAD |
|
|
CA404511339 rs1457149049 |
366 | A>V | No |
ClinGen gnomAD |
|
|
CA9261231 rs756057673 |
367 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305773107 rs766257252 |
368 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9261232 rs766257252 |
368 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9261233 rs753952297 |
368 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404511369 rs766257252 |
368 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1173453098 CA404511459 |
371 | P>L | No |
ClinGen gnomAD |
|
|
rs1465411676 CA404511566 |
377 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1037357559 CA305773119 |
378 | K>R | No |
ClinGen TOPMed |
|
|
CA9261235 rs779245333 |
379 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA305773123 rs939384338 |
380 | T>P | No |
ClinGen Ensembl |
|
|
CA9261236 rs748308086 |
382 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs778006849 CA9261238 |
384 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1487390965 CA404511692 |
386 | E>K | No |
ClinGen gnomAD |
|
|
CA404511712 rs1402402297 |
387 | A>T | No |
ClinGen TOPMed |
|
|
rs1262077329 CA404511727 |
388 | P>H | No |
ClinGen gnomAD |
|
|
CA9261239 rs747325420 |
388 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA9261241 rs777242791 |
391 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748852396 CA9261242 |
394 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA404511853 rs748852396 |
394 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs1351918764 CA404511856 |
395 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA404511932 rs1293152125 |
397 | G>E | No |
ClinGen gnomAD |
|
|
CA404511969 rs1386018995 |
399 | P>L | No |
ClinGen gnomAD |
|
|
CA404511991 rs1339972927 |
401 | P>L | No |
ClinGen gnomAD |
|
|
CA305773158 rs993203679 |
401 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs768268014 CA9261243 |
404 | V>A | No |
ClinGen ExAC TOPMed |
|
|
CA404512035 rs1319700438 |
405 | E>K | No |
ClinGen gnomAD |
|
|
CA9261245 rs376129355 |
406 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9261244 rs774119676 |
406 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767139649 CA404512090 |
407 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA404512077 rs1214040192 |
407 | E>K | No |
ClinGen gnomAD |
|
|
CA404512089 rs1261774299 |
407 | E>V | No |
ClinGen gnomAD |
|
|
rs772906202 VAR_062661 COSM84502 CA9261247 |
408 | R>Q | pancreas a pancreatic ductal adenocarcinoma sample; somatic mutation [Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt ExAC TOPMed dbSNP gnomAD |
|
CA305773177 rs776276724 |
408 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA305773192 rs1007408182 |
410 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA404512132 rs1296600956 |
411 | G>D | No |
ClinGen gnomAD |
|
|
rs753753794 CA9261251 |
411 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9261250 rs753753794 COSM181534 |
411 | G>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA404512162 rs1448935808 |
412 | Q>H | No |
ClinGen gnomAD |
|
|
CA305773211 rs1007915288 |
412 | Q>R | No |
ClinGen gnomAD |
|
|
CA404512186 rs1599323623 |
413 | V>G | No |
ClinGen Ensembl |
|
|
CA404512170 rs1304501749 |
413 | V>M | No |
ClinGen gnomAD |
|
|
rs765232198 CA9261252 |
414 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs868379974 CA305773218 |
414 | P>S | No |
ClinGen Ensembl |
|
|
rs1355614422 CA404512209 |
415 | L>R | No |
ClinGen gnomAD |
|
|
CA404512250 rs1237432733 |
418 | Q>* | No |
ClinGen gnomAD |
|
|
rs989832104 CA404512353 |
420 | C>* | No |
ClinGen TOPMed gnomAD |
|
|
rs752757903 CA9261253 |
420 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA404512361 rs1239698803 |
421 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA404512357 rs1239698803 |
421 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1239698803 CA404512359 |
421 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs367854100 CA305773263 |
423 | Q>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA305773287 rs974121351 |
425 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs867186089 CA305773282 |
425 | E>K | No |
ClinGen gnomAD |
|
|
rs867186089 CA404512443 |
425 | E>Q | No |
ClinGen gnomAD |
|
|
rs778013688 CA9261255 |
426 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9261256 rs752009934 |
426 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs375507537 CA9261257 |
427 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9261258 rs781778183 |
427 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1331971647 CA404512513 |
428 | G>W | No |
ClinGen gnomAD |
|
|
rs867738024 CA305773302 |
430 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA404512556 rs867738024 |
430 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs770268705 CA9261260 |
430 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1374543214 CA404512718 |
434 | L>P | No |
ClinGen gnomAD |
|
|
rs559700720 CA9261277 |
436 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs376420111 CA9261278 |
436 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9261280 rs780572269 |
441 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs771589119 CA9261282 |
443 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 443 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404512952 rs1217276536 |
445 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1337804494 CA404512949 |
445 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA9261285 rs770508655 |
448 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA9261286 rs776426236 |
448 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9261287 rs759330030 |
450 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1405257090 CA404513117 |
452 | E>D | No |
ClinGen TOPMed |
|
|
rs371156991 CA9261289 |
453 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9261290 rs140575092 COSM293982 |
453 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs371156991 CA9261288 |
453 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774505761 CA404513155 |
454 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA9261292 rs774505761 |
454 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs764226233 CA9261291 |
454 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs963547344 CA305773818 |
457 | A>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 461 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 462 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750847292 CA9261296 |
463 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1161286388 CA404513355 |
464 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA631947985 rs1419875349 |
465 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA9261297 rs756471711 |
466 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA9261300 rs757914105 |
467 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3422482 rs552391083 CA9261299 |
467 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
| TCGA novel | 468 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766761902 CA9261316 |
477 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA404514563 rs1378798188 |
479 | L>F | Variant assessed as Somatic; 4.641e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1464165172 CA404514574 |
480 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA404514597 rs1465294656 |
482 | L>* | No |
ClinGen TOPMed |
|
|
rs779170644 CA305776846 |
485 | P>A | No |
ClinGen Ensembl |
|
|
rs755526774 CA404514637 |
485 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9261318 rs755526774 |
485 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1599324485 CA404514662 |
488 | T>P | No |
ClinGen Ensembl |
|
| TCGA novel | 493 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9261322 rs374991037 |
496 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1332900361 CA404514793 |
497 | E>G | No |
ClinGen gnomAD |
|
|
rs1387803478 CA404514824 |
499 | M>V | No |
ClinGen gnomAD |
|
|
CA9261325 rs141830780 |
501 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9261324 rs141830780 |
501 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9261323 rs745525231 |
501 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1255861915 CA404514875 |
502 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 502 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9261326 rs748984741 |
502 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404514919 rs1480193858 |
505 | N>K | No |
ClinGen gnomAD |
|
|
rs558734014 CA9261327 |
507 | V>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs558734014 CA404514970 |
507 | V>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1048270287 CA305776919 |
508 | P>L | No |
ClinGen gnomAD |
|
|
rs748288079 CA9261330 |
509 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA404515027 rs1478408848 |
510 | T>I | No |
ClinGen gnomAD |
|
| rs770943850 | 510 | T>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9261332 rs772266058 |
512 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA404515115 rs1294323155 |
515 | R>* | Variant assessed as Somatic; 0.00019 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9261333 rs184293589 |
515 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404515129 CA9261334 rs760957685 |
516 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9261335 rs771003925 |
517 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA404515221 rs1341233126 |
520 | C>Y | No |
ClinGen gnomAD |
|
|
rs1599324630 CA404515248 |
522 | P>S | No |
ClinGen Ensembl |
|
|
CA404515300 rs1463843144 |
525 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1019171605 CA305777213 |
527 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA305777218 rs1041792261 |
528 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA9261342 rs749843203 |
530 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404515503 rs1599324994 |
535 | H>P | No |
ClinGen Ensembl |
|
|
CA305777268 rs977801834 COSM1391029 |
537 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs556526168 CA9261345 |
537 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs202241248 CA9261346 |
538 | L>V | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs1485804049 CA404515591 |
540 | S>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 542 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404515657 rs1258630855 |
543 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1183213407 CA404515673 |
544 | A>P | No |
ClinGen gnomAD |
|
|
CA404515678 rs1381204505 |
544 | A>V | No |
ClinGen gnomAD |
|
|
CA9261349 rs772069865 |
547 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777925844 CA9261350 |
547 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1599325054 TCGA novel CA404515785 |
549 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
rs1304522370 CA404515827 |
551 | Q>E | No |
ClinGen gnomAD |
|
| TCGA novel | 551 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1309253572 CA404515835 |
551 | Q>R | No |
ClinGen gnomAD |
|
|
CA404515916 rs1376698137 |
554 | A>S | No |
ClinGen gnomAD |
|
|
CA404515908 rs1376698137 |
554 | A>T | No |
ClinGen gnomAD |
|
|
rs867358134 CA305777296 |
554 | A>V | No |
ClinGen Ensembl |
|
|
CA404515941 rs1338954123 |
555 | V>A | No |
ClinGen TOPMed |
|
|
CA9261351 rs747014146 |
555 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372955393 CA9261353 |
557 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9261355 rs552358540 |
558 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs775763724 CA9261356 |
560 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA404516118 rs763460725 |
562 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA305777332 rs773258165 |
563 | P>L | No |
ClinGen gnomAD |
|
|
rs749978750 CA9261359 |
565 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9261360 rs760072560 |
565 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1175717576 CA404516179 |
566 | Q>K | No |
ClinGen gnomAD |
|
|
CA404516216 rs1418400825 |
567 | A>T | No |
ClinGen Ensembl |
|
|
CA404516230 rs1407268871 |
567 | A>V | No |
ClinGen gnomAD |
|
|
CA305777336 COSM992031 rs952598796 |
569 | T>I | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1403875570 CA404516260 |
569 | T>P | No |
ClinGen gnomAD |
|
|
rs952598796 CA404516276 |
569 | T>R | No |
ClinGen gnomAD |
|
|
rs766103143 CA9261361 |
572 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753528731 CA9261362 |
572 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753528731 CA404516336 |
572 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753528731 CA305777342 |
572 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 574 | R>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1278593257 CA404516372 |
574 | R>C | No |
ClinGen gnomAD |
|
|
COSM1228099 CA9261363 rs200892355 |
574 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA9261366 rs558797211 |
577 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs777534130 CA9261367 |
578 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9261368 rs777534130 |
578 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9261370 rs770897523 |
581 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404516547 rs770897523 |
581 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9261369 rs770897523 |
581 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs886545297 CA305777367 |
582 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA9261372 rs769942395 |
583 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769942395 CA9261373 |
583 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9261374 rs749611629 |
584 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA404516668 rs1193030246 |
585 | D>H | No |
ClinGen gnomAD |
|
|
CA404516720 rs1427322414 |
586 | F>V | No |
ClinGen gnomAD |
|
| TCGA novel | 588 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1480039125 CA404516862 |
590 | I>V | No |
ClinGen gnomAD |
|
|
CA9261375 rs769245697 |
591 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404516915 rs1327749073 |
592 | V>M | No |
ClinGen gnomAD |
|
|
rs1438212293 CA404517105 |
597 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1438212293 CA404517108 |
597 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9261378 rs765802252 |
598 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9261377 rs534890609 |
598 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs80106430 CA9261399 CA404518570 |
602 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs900707504 CA305777415 |
602 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs921954725 CA305778019 |
604 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA305778032 rs966129715 |
604 | R>H | No |
ClinGen Ensembl |
|
|
rs1419744617 CA404518615 |
606 | P>S | No |
ClinGen gnomAD |
|
|
rs377290944 CA9261400 |
607 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9261401 rs775264521 |
607 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs762867875 CA9261402 |
608 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1341442437 CA404518665 |
609 | S>P | No |
ClinGen gnomAD |
|
|
CA404518663 rs1341442437 |
609 | S>T | No |
ClinGen gnomAD |
|
|
rs932076311 CA305778041 |
610 | P>S | No |
ClinGen TOPMed |
|
|
rs751306540 CA9261404 |
611 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs763798215 CA9261403 |
611 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs975785689 CA305778048 |
613 | A>T | No |
ClinGen gnomAD |
|
|
rs1169275259 CA404518778 |
613 | A>V | No |
ClinGen TOPMed |
|
|
CA404518787 rs1456114345 |
614 | P>A | No |
ClinGen TOPMed |
|
|
rs757162375 CA9261406 |
615 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA9261407 rs767400263 |
617 | R>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 620 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756164055 CA9261409 |
622 | P>R | No |
ClinGen ExAC |
|
|
rs750539606 CA9261408 |
622 | P>T | No |
ClinGen ExAC |
|
|
CA404519005 rs1416486877 |
623 | P>L | No |
ClinGen TOPMed |
|
|
rs749467839 CA9261411 |
625 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs202139854 CA9261412 |
625 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA404519102 rs1361484425 |
627 | P>L | No |
ClinGen gnomAD |
|
|
CA404519143 rs1158481633 |
629 | A>E | No |
ClinGen gnomAD |
|
| TCGA novel | 629 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9261416 rs778396460 |
631 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs562227676 CA9261415 |
631 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs745423909 CA9261417 |
635 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA9261419 rs769418525 |
636 | R>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 636 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374576332 CA9261420 |
637 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9261422 rs370725981 |
638 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139561208 CA9261424 |
639 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139561208 CA9261425 |
639 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9261423 rs774042409 |
639 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs774042409 COSM1391030 CA404519404 |
639 | G>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA9261426 rs750345958 |
640 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9261427 rs750345958 |
640 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766451556 CA9261428 |
641 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305778237 rs896475667 |
642 | G>A | No |
ClinGen gnomAD |
|
|
CA9261429 rs753897507 |
642 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs949695151 CA305778241 |
643 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1336708675 CA404519564 |
644 | E>A | No |
ClinGen TOPMed |
|
|
CA305778248 rs767454674 |
645 | S>C | No |
ClinGen Ensembl |
|
|
CA404519590 rs1568330321 |
645 | S>N | No |
ClinGen Ensembl |
|
|
CA9261431 rs755179256 |
645 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404519638 rs758816670 |
646 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9261434 rs758816670 |
646 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9261433 rs753045477 |
646 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9261436 rs747517525 |
647 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747517525 CA9261437 |
647 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs764522229 | 648 | S>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9261439 rs748789177 |
648 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs747222418 CA305778314 |
648 | S>R | No |
ClinGen Ensembl |
|
|
CA404519737 rs1409198121 |
650 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA404519745 rs1157904788 |
650 | R>L | No |
ClinGen TOPMed |
|
|
CA404519771 rs949386836 |
651 | Y>* | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 652 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404519821 rs1318319692 |
654 | D>Y | No |
ClinGen gnomAD |
|
|
CA305778342 rs1026697978 |
656 | S>G | No |
ClinGen TOPMed |
|
|
CA9261443 rs771849749 |
657 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs771849749 CA9261444 |
657 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 659 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753897728 CA9261449 |
660 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs375316079 CA9261448 |
660 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 662 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs757780341 | 664 | P>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1268865184 CA404520089 |
664 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA9261452 rs759632668 |
665 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA404520155 rs1370805488 |
667 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA404520150 COSM992035 rs1371727331 |
667 | R>W | Variant assessed as Somatic; 0.0 impact. liver endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA404520163 rs1461616478 |
668 | D>N | No |
ClinGen gnomAD |
|
|
CA404520240 rs1367523153 |
671 | S>P | No |
ClinGen gnomAD |
|
|
CA9261456 CA404520263 rs778292271 |
672 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9261457 rs751920646 |
672 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs200419053 CA9261459 |
674 | D>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9261458 rs757866885 |
674 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1470460467 CA404520328 |
675 | Y>* | No |
ClinGen Ensembl |
|
|
CA9261460 rs748796474 |
675 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1356618998 CA404520339 |
676 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs566422722 CA9261461 |
676 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs566422722 CA9261462 |
676 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9261465 rs773014575 |
678 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746768171 CA9261466 |
679 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9261467 rs746768171 |
679 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374705440 CA9261468 |
680 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404520439 rs1470028084 |
680 | G>V | No |
ClinGen TOPMed |
|
|
CA9261469 rs759594633 |
681 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 683 | S>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA305778484 rs925371997 |
685 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1599326628 CA404520619 |
686 | E>V | No |
ClinGen Ensembl |
|
|
rs1347579547 CA404520643 |
687 | D>E | No |
ClinGen TOPMed |
|
|
CA9261477 rs367745925 |
688 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775370268 CA9261476 |
688 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1599326657 CA404520708 |
690 | V>G | No |
ClinGen Ensembl |
|
|
CA9261478 rs371184083 |
690 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752008837 CA9261479 |
691 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767964712 CA9261481 |
693 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA404520827 rs1599326688 |
695 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 695 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA305778531 rs976113674 |
696 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA404520865 rs1318198877 |
697 | G>D | No |
ClinGen gnomAD |
|
|
rs1175319823 CA404520855 |
697 | G>S | No |
ClinGen TOPMed |
|
|
CA9261485 rs747608538 |
698 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1259541261 CA404520906 |
700 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA9261487 rs758078960 |
701 | D>N | No |
ClinGen ExAC |
|
|
CA9261488 rs777374837 |
703 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA9261489 rs746858126 |
704 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1442955227 CA404520986 |
705 | A>T | No |
ClinGen gnomAD |
|
|
rs1183228768 CA404520992 |
705 | A>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 707 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404521045 rs745825704 |
708 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs142049849 CA9261493 |
708 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745825704 CA9261492 |
708 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs763092055 CA9261495 |
711 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA9261496 rs764456738 |
713 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1331696603 CA404521254 |
718 | A>T | No |
ClinGen gnomAD |
|
|
rs762333362 CA9261499 |
718 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs767927443 CA9261500 |
720 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA404521311 rs1305449832 |
721 | L>V | No |
ClinGen gnomAD |
|
|
rs750695402 CA9261501 |
722 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA404521356 rs1410177049 |
723 | L>P | No |
ClinGen gnomAD |
|
|
rs766757060 CA9261503 |
723 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1213483626 CA404521393 |
725 | R>G | No |
ClinGen TOPMed |
|
|
rs752245345 CA9261506 |
725 | R>S | No |
ClinGen ExAC TOPMed |
|
|
CA404521460 rs1432924489 |
728 | S>P | No |
ClinGen gnomAD |
|
|
rs547245669 CA9261509 |
730 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 731 | I>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA305778635 rs568577045 |
732 | N>H | No |
ClinGen 1000Genomes |
|
|
CA404521588 rs1214856547 |
733 | V>G | No |
ClinGen TOPMed |
|
|
rs376929156 CA9261511 |
733 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA305778662 rs909363478 |
734 | C>F | No |
ClinGen Ensembl |
|
|
CA404521622 rs1599326928 |
735 | L>I | No |
ClinGen Ensembl |
|
|
CA9261513 rs769806805 |
735 | L>P | No |
ClinGen ExAC gnomAD |
No associated diseases with Q6ZW31
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| synaptic membrane | A specialized area of membrane on either the presynaptic or the postsynaptic side of a synapse, the junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| GTPase activator activity | Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP. |
| GTPase regulator activity | Binds to and modulates the activity of a GTPase. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| actin cytoskeleton reorganization | A process that is carried out at the cellular level which results in dynamic structural changes to the arrangement of constituent parts of cytoskeletal structures comprising actin filaments and their associated proteins. |
| activation of GTPase activity | Any process that initiates the activity of an inactive GTPase through the replacement of GDP by GTP. |
| cell migration | The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms. |
| positive regulation of trophoblast cell migration | Any process that activates or increases the frequency, rate or extent of trophoblast cell migration. |
| regulation of cytoskeleton organization | Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures. |
| regulation of Ras protein signal transduction | Any process that modulates the frequency, rate or extent of Ras protein signal transduction. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAEPLLRKTF | SRLRGREKLP | RKKSDAKERG | HPAQRPEPSP | PEPEPQAPEG | SQAGAEGPSS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PEASRSPARG | AYLQSLEPSS | RRWVLGGAKP | AEDTSLGPGV | PGTGEPAGEI | WYNPIPEEDP |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RPPAPEPPGP | QPGSAESEGL | APQGAAPASP | PTKASRTKSP | GPARRLSIKM | KKLPELRRRL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SLRGPRAGRE | RERAAPAGSV | ISRYHLDSSV | GGPGPAAGPG | GTRSPRAGYL | SDGDSPERPA |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GPPSPTSFRP | YEVGPAARAP | PAALWGRLSL | HLYGLGGLRP | APGATPRDLC | CLLQVDGEAR |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ARTGPLRGGP | DFLRLDHTFH | LELEAARLLR | ALVLAWDPGV | RRHRPCAQGT | VLLPTVFRGC |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QAQQLAVRLE | PQGLLYAKLT | LSEQQEAPAT | AEPRVFGLPL | PLLVERERPP | GQVPLIIQKC |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VGQIERRGLR | VVGLYRLCGS | AAVKKELRDA | FERDSAAVCL | SEDLYPDINV | ITGILKDYLR |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ELPTPLITQP | LYKVVLEAMA | RDPPNRVPPT | TEGTRGLLSC | LPDVERATLT | LLLDHLRLVS |
| 550 | 560 | 570 | 580 | 590 | 600 |
| SFHAYNRMTP | QNLAVCFGPV | LLPARQAPTR | PRARSSGPGL | ASAVDFKHHI | EVLHYLLQSW |
| 610 | 620 | 630 | 640 | 650 | 660 |
| PDPRLPRQSP | DVAPYLRPKR | QPPLHLPLAD | PEVVTRPRGR | GGPESPPSNR | YAGDWSVCGR |
| 670 | 680 | 690 | 700 | 710 | 720 |
| DFLPCGRDFL | SGPDYDHVTG | SDSEDEDEEV | GEPRVTGDFE | DDFDAPFNPH | LNLKDFDALI |
| 730 | |||||
| LDLERELSKQ | INVCL |