O95294
PR
Gene name |
RASAL1 |
Protein name |
RasGAP-activating-like protein 1 |
Names |
RAS protein activator like 1, Ras GTPase-activating-like protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8437 |
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 O95294
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-O95294-F1 | Predicted | AlphaFoldDB |
752 variants for O95294
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV002728822 CA243775628 rs1008599504 |
432 | R>G | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002698349 rs149283617 COSM109741 CA6802219 |
784 | R>C | Variant assessed as Somatic; 0.0001395 impact. skin Inborn genetic diseases [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA dbSNP gnomAD |
|
CA386835502 rs1188957925 |
4 | S>N | No |
ClinGen gnomAD |
|
|
CA6803075 rs563899371 |
4 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386835430 rs1326764018 |
9 | V>I | No |
ClinGen gnomAD |
|
|
CA6803072 rs7960087 VAR_031665 |
11 | V>L | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs7960087 CA386835400 |
11 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1240670675 CA386835378 |
12 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA243790549 rs761317487 |
14 | G>D | No |
ClinGen gnomAD |
|
|
rs751597448 CA6803070 |
14 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA6803071 rs751597448 |
14 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA386835331 rs1592977287 |
15 | R>G | No |
ClinGen Ensembl |
|
|
CA386835324 rs1459041258 |
15 | R>H | No |
ClinGen TOPMed |
|
|
rs1323106928 CA386835311 |
16 | A>E | No |
ClinGen gnomAD |
|
|
CA386835309 rs1323106928 |
16 | A>G | No |
ClinGen gnomAD |
|
|
CA6803069 rs780019986 |
16 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA6803068 rs758897444 |
18 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1337819630 CA386835281 |
19 | A>D | No |
ClinGen gnomAD |
|
|
CA6803067 rs750930383 |
19 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243790543 rs1042680675 |
20 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1326045381 CA386835252 |
21 | D>E | No |
ClinGen TOPMed |
|
|
CA6803065 rs200723951 |
22 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200723951 CA386835244 |
22 | V>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386835248 rs1330689996 |
22 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA386835247 rs1330689996 |
22 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA6803043 rs754631754 |
26 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1163735518 CA386835147 |
27 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs765901415 CA6803041 |
27 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA386835148 rs1163735518 |
27 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs762439059 CA6803040 |
28 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs146594348 CA6803039 |
30 | C>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386835100 rs1365811564 |
34 | V>A | No |
ClinGen TOPMed |
|
| TCGA novel | 34 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386835084 rs768611166 |
36 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs200935362 CA6803036 |
36 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747228187 CA6803034 |
37 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1592964907 CA386835057 |
38 | V>G | No |
ClinGen Ensembl |
|
|
rs772185784 CA6803032 |
40 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1318299484 CA386834395 |
41 | R>S | No |
ClinGen gnomAD |
|
|
CA386834385 rs1566069602 |
42 | T>R | No |
ClinGen Ensembl |
|
|
CA243787084 rs1027393200 |
43 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1046613907 CA243787078 |
44 | T>A | No |
ClinGen gnomAD |
|
|
rs756650228 CA6803007 |
48 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139329607 CA6803003 |
53 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6803000 rs150844584 |
53 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150844584 CA6802998 CA6802999 |
53 | W>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139329607 CA6803002 |
53 | W>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781635534 CA6803004 |
53 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA6803001 rs139329607 |
53 | W>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1055202037 CA243787051 |
54 | G>E | No |
ClinGen Ensembl |
|
|
rs760672646 CA6802997 |
54 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA243787048 rs1002595109 |
55 | E>G | No |
ClinGen TOPMed |
|
| TCGA novel | 55 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6802996 rs141435232 |
57 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
VAR_031666 rs34598602 CA6802995 |
58 | T>M | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs770995082 CA6802992 |
60 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA6802993 rs143684371 |
60 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386834156 rs1367261548 |
62 | P>L | No |
ClinGen gnomAD |
|
|
CA243787020 rs373150538 |
66 | H>P | No |
ClinGen Ensembl |
|
|
rs1359564832 CA386834075 |
69 | A>G | No |
ClinGen gnomAD |
|
|
COSM400484 rs138125207 CA6802987 |
72 | V>L | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA6802988 rs138125207 COSM1579274 |
72 | V>M | NS [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs769112911 CA6802985 |
74 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs745498739 CA386833996 |
76 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM366125 rs745498739 CA6802984 |
76 | D>Y | lung Variant assessed as Somatic; 0.0 impact. urinary_tract [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA386833982 rs1254663805 |
77 | T>A | No |
ClinGen TOPMed |
|
|
CA6802982 rs756971879 |
78 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386833972 rs756971879 |
78 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755977116 CA6802979 |
79 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs777375870 CA6802980 |
79 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA386833910 rs1465021341 |
80 | H>Y | No |
ClinGen TOPMed |
|
|
rs748035988 CA6802960 |
81 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748035988 CA6802961 |
81 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 81 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386833885 rs1437361166 |
82 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA386833877 rs1427744939 |
82 | D>V | No |
ClinGen TOPMed |
|
|
CA243786850 rs543433414 |
83 | I>T | No |
ClinGen Ensembl |
|
|
rs1316507593 CA386833854 |
84 | I>T | No |
ClinGen Ensembl |
|
|
rs751308034 CA6802957 |
85 | G>S | No |
ClinGen ExAC TOPMed |
|
|
rs866806006 CA386833821 |
87 | I>F | No |
ClinGen Ensembl |
|
|
rs866806006 CA243786847 |
87 | I>L | No |
ClinGen Ensembl |
|
|
rs139171712 CA6802955 |
88 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs376142926 CA6802953 |
93 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000971121 CA6802952 rs146551951 |
93 | A>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1247726111 CA386833738 |
94 | I>V | No |
ClinGen gnomAD |
|
|
CA6802950 rs776577530 |
95 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6802949 rs764636562 |
96 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs748880283 CA6802945 |
97 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs200952426 CA6802947 |
97 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6802946 rs772616072 |
97 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA243786801 rs145166265 |
98 | P>S | No |
ClinGen ESP TOPMed |
|
|
CA243786805 rs145166265 |
98 | P>T | No |
ClinGen ESP TOPMed |
|
|
rs200175078 CA6802943 |
99 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386833685 rs1306630055 |
99 | R>Q | No |
ClinGen gnomAD |
|
|
rs1226320580 CA386833219 |
100 | G>E | No |
ClinGen TOPMed |
|
|
rs1273953214 CA386833190 |
103 | S>C | No |
ClinGen TOPMed |
|
|
CA6802925 rs747790272 |
104 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1358260600 CA386833145 |
106 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1453329495 CA386833108 |
109 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA386833102 COSM467828 rs1390686605 |
109 | R>L | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1390686605 CA386833104 |
109 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA386833106 rs1390686605 |
109 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA386833093 rs1190477228 |
110 | V>A | No |
ClinGen gnomAD |
|
|
rs1426472466 CA386833074 |
111 | D>E | No |
ClinGen gnomAD |
|
|
CA386833087 rs1194316881 |
111 | D>N | No |
ClinGen TOPMed |
|
|
rs776090911 CA6802924 |
112 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776090911 CA243783839 |
112 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6802922 rs746932050 |
115 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 115 | E>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1278542984 CA386833010 |
117 | Q>K | No |
ClinGen gnomAD |
|
|
CA243783830 rs568291405 |
118 | G>V | No |
ClinGen 1000Genomes |
|
|
CA386832977 rs1343029942 |
119 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 119 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 122 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1225918318 CA386832931 |
123 | S>L | No |
ClinGen gnomAD |
|
|
CA386832939 rs1277363687 |
123 | S>P | No |
ClinGen gnomAD |
|
|
rs866042735 CA243783827 |
125 | Q>R | No |
ClinGen Ensembl |
|
|
CA386832907 rs1395096314 |
126 | M>T | No |
ClinGen TOPMed |
|
|
CA6802920 rs771907622 |
127 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA386832892 rs778593894 |
128 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386832883 rs1310747003 CA386832884 |
128 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA6802918 rs778593894 |
128 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757458573 CA6802917 |
129 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs756330082 CA6802914 |
130 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs552882559 CA6802915 |
130 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1382614073 CA386832850 |
131 | Q>H | No |
ClinGen TOPMed |
|
|
CA243783815 rs1027242315 |
132 | G>R | No |
ClinGen TOPMed |
|
|
rs1037232295 CA243783813 |
133 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs752830061 CA243783810 |
133 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752830061 CA6802913 |
133 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386832816 rs1255646323 |
134 | C>Y | No |
ClinGen gnomAD |
|
|
rs759986949 CA6802911 |
135 | L>F | No |
ClinGen ExAC gnomAD |
|
|
COSM935376 CA243783803 rs961416895 |
136 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA6802910 rs200909206 |
136 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386832784 rs200909206 |
136 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs766695912 CA6802909 |
137 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs1339313523 CA386832770 |
137 | C>Y | No |
ClinGen gnomAD |
|
|
rs1051952455 CA243783798 |
138 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs761502286 CA6802907 |
141 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA6802906 rs776320770 |
142 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1391942803 CA386831745 |
144 | D>A | No |
ClinGen gnomAD |
|
|
rs780932211 CA243779127 |
150 | I>T | No |
ClinGen Ensembl |
|
|
CA6802889 rs763291431 |
152 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386831664 rs1157086976 |
153 | T>I | No |
ClinGen gnomAD |
|
|
CA386831662 rs946314170 |
154 | S>P | No |
ClinGen gnomAD |
|
|
rs946314170 COSM1223195 CA243779116 |
154 | S>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA386831640 rs1592934990 |
157 | F>S | No |
ClinGen Ensembl |
|
|
CA6802886 rs760341144 |
159 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774939653 CA6802885 |
159 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6802884 rs771520960 |
160 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1466570475 CA386831618 |
161 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA386831605 rs1203040302 |
162 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 162 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759506053 CA6802883 |
162 | W>G | No |
ClinGen ExAC gnomAD |
|
|
CA386831592 rs1267733305 |
163 | G>D | No |
ClinGen gnomAD |
|
|
CA6802882 rs774222018 |
163 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs151114938 CA6802881 |
165 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6802880 rs749033956 |
165 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA386831562 rs1368694405 |
166 | S>G | No |
ClinGen gnomAD |
|
|
rs773168362 CA6802879 |
166 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1435502735 CA386831530 |
168 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6802878 rs543666356 |
169 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6802859 rs776781876 |
172 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1374960828 CA386831474 |
172 | I>V | No |
ClinGen gnomAD |
|
|
rs1412145037 CA386831457 TCGA novel |
173 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen gnomAD NCI-TCGA |
|
CA386831443 rs1272659576 |
174 | K>N | No |
ClinGen TOPMed |
|
|
CA6802858 rs373635740 |
176 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369348565 CA6802857 |
176 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148977743 CA6802855 |
178 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA243779040 rs186538579 |
179 | H>R | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1592934310 CA386831403 |
179 | H>Y | No |
ClinGen Ensembl |
|
|
CA386831388 rs1256206990 |
180 | W>* | No |
ClinGen gnomAD |
|
|
rs757686544 CA6802852 |
180 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA6802851 rs754237340 |
181 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1566059242 CA386831357 |
183 | V>A | No |
ClinGen Ensembl |
|
|
rs368561887 CA386831324 |
187 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368561887 CA6802848 |
187 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375528107 CA6802849 |
187 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA386831279 rs1402726868 |
191 | G>D | No |
ClinGen TOPMed |
|
|
rs1051867108 CA243779034 |
192 | A>D | No |
ClinGen TOPMed |
|
|
rs762964830 CA6802846 |
192 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6802845 rs144694121 |
193 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1353261074 CA386831263 |
194 | S>C | No |
ClinGen gnomAD |
|
|
rs761632080 CA6802843 |
194 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs776495484 CA6802842 |
195 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs571586597 CA243779022 |
196 | L>V | No |
ClinGen 1000Genomes |
|
|
COSM1321997 rs760987444 CA6802840 |
197 | R>Q | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs768708499 CA6802841 |
197 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1474022063 CA386831220 |
202 | D>H | No |
ClinGen gnomAD |
|
|
CA386831207 rs1416797127 |
203 | W>* | No |
ClinGen gnomAD |
|
|
rs1481356112 CA386831174 |
205 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs775401110 CA6802839 |
205 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1225605732 CA386831168 |
206 | V>L | No |
ClinGen TOPMed |
|
|
CA386831153 rs1231072204 |
207 | G>V | No |
ClinGen gnomAD |
|
|
rs1205939613 CA386831141 |
208 | K>N | No |
ClinGen TOPMed |
|
|
CA386831126 rs1451919712 |
210 | D>H | No |
ClinGen gnomAD |
|
| TCGA novel | 211 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1018777565 CA243779008 |
213 | G>V | No |
ClinGen Ensembl |
|
|
CA386831058 rs1334443187 |
214 | M>I | No |
ClinGen gnomAD |
|
|
rs1231612353 CA386831074 |
214 | M>V | No |
ClinGen gnomAD |
|
|
rs1157729221 CA386830296 |
215 | V>A | No |
ClinGen gnomAD |
|
|
rs771387920 CA6802817 |
219 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771387920 CA386830242 |
219 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 220 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386830232 rs1592928970 |
220 | K>R | No |
ClinGen Ensembl |
|
|
CA386830216 rs950015332 |
221 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs950015332 CA243778142 |
221 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA386830208 rs1411418326 |
222 | L>R | No |
ClinGen TOPMed |
|
|
rs571305833 CA243778138 |
224 | Q>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs571305833 CA6802814 |
224 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1350197361 CA386830180 |
225 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA6802812 rs746640040 |
225 | K>N | No |
ClinGen ExAC |
|
|
rs1276519134 CA386830136 |
227 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6802811 rs779783782 |
228 | K>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 229 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6802810 rs758134513 |
229 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA6802809 rs749900472 |
230 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1329316859 CA386830080 |
230 | W>R | No |
ClinGen TOPMed |
|
|
rs778593081 CA6802808 |
232 | R>C | Variant assessed as Somatic; 4.624e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs757109627 CA6802807 |
232 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6802806 rs147235005 |
236 | F>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386829958 rs1171630750 |
238 | R>G | No |
ClinGen gnomAD |
|
|
CA6802802 rs371368874 |
240 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759785196 CA386829914 |
241 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1426566364 CA386829923 |
241 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs549788141 CA6802800 |
243 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA243778115 rs1045563782 |
244 | G>R | No |
ClinGen gnomAD |
|
|
CA386829803 rs1291105303 |
245 | G>R | No |
ClinGen gnomAD |
|
|
rs777101668 CA386829785 |
246 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs777101668 CA6802775 |
246 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA243777772 rs996167467 |
247 | L>M | No |
ClinGen gnomAD |
|
|
CA386829780 rs996167467 |
247 | L>V | No |
ClinGen gnomAD |
|
|
rs1389617464 CA386829768 |
248 | G>D | No |
ClinGen gnomAD |
|
|
CA386829775 rs1236007856 |
248 | G>S | No |
ClinGen gnomAD |
|
|
CA386829764 rs1212320772 |
249 | A>T | No |
ClinGen gnomAD |
|
|
CA386829758 rs1286397697 |
249 | A>V | No |
ClinGen TOPMed |
|
|
rs1395419567 CA386829754 |
250 | L>V | No |
ClinGen gnomAD |
|
|
rs763097544 CA6802773 |
251 | R>* | Variant assessed as Somatic; 4.808e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs774212828 CA6802772 |
251 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1164535042 CA386829710 |
254 | V>A | No |
ClinGen gnomAD |
|
|
COSM1171878 rs531834126 CA6802770 |
255 | R>C | Variant assessed as Somatic; 0.0 impact. oesophagus large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs756048027 CA6802769 |
255 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756048027 CA6802768 |
255 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1592925558 CA386829662 |
259 | D>A | No |
ClinGen Ensembl |
|
|
rs140623604 CA6802767 |
260 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs140623604 CA386829651 |
260 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs150792397 CA6802766 |
260 | R>H | Variant assessed as Somatic; 4.658e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs751365034 CA6802764 |
261 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373386228 CA243777746 |
262 | L>P | No |
ClinGen ESP TOPMed |
|
|
rs1350691101 CA386829625 |
263 | P>T | No |
ClinGen gnomAD |
|
|
rs1566054825 CA386829592 |
265 | Q>H | No |
ClinGen Ensembl |
|
|
CA386829598 rs1478850495 |
265 | Q>R | No |
ClinGen TOPMed |
|
|
rs758566997 CA6802761 |
266 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1376047551 CA386829578 |
267 | Y>H | No |
ClinGen gnomAD |
|
|
CA386829575 rs1304135032 |
267 | Y>S | No |
ClinGen gnomAD |
|
|
CA386829558 rs1442790148 |
268 | Q>H | No |
ClinGen gnomAD |
|
|
rs1368560508 CA386829555 |
269 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA386829554 rs1368560508 |
269 | P>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 270 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs935498486 CA243777732 |
271 | M>T | No |
ClinGen gnomAD |
|
|
CA6802760 rs564699295 |
271 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs972373435 CA243777689 |
275 | M>T | No |
ClinGen TOPMed |
|
|
CA243777692 rs765468735 |
275 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA243777686 rs556416383 |
276 | E>* | No |
ClinGen gnomAD |
|
|
rs141266799 CA6802758 |
278 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1357832331 CA386829438 |
279 | Q>P | No |
ClinGen TOPMed |
|
|
rs1452906881 CA386829404 |
282 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs754453077 CA6802757 COSM1476145 |
283 | E>D | Variant assessed as Somatic; 4.844e-05 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA386829330 rs1158518654 |
284 | E>D | No |
ClinGen TOPMed |
|
|
CA243777519 rs757566324 |
284 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757566324 CA6802724 |
284 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386829324 rs1392007534 |
285 | D>G | No |
ClinGen TOPMed |
|
|
CA243777508 rs996196782 |
287 | A>T | No |
ClinGen Ensembl |
|
|
rs893770799 CA243777505 |
291 | A>T | No |
ClinGen TOPMed |
|
|
rs1439278918 CA386829242 |
293 | L>M | No |
ClinGen gnomAD |
|
|
CA6802722 rs753918923 |
295 | E>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 299 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386829177 rs1369598149 |
299 | G>R | No |
ClinGen TOPMed |
|
|
rs1335709198 CA386829156 |
300 | D>E | No |
ClinGen gnomAD |
|
|
CA386829143 rs1251113150 |
302 | R>C | No |
ClinGen gnomAD |
|
|
CA386829140 rs1295401502 |
302 | R>H | No |
ClinGen gnomAD |
|
|
CA386829136 rs1231496551 |
303 | Q>E | No |
ClinGen gnomAD |
|
| TCGA novel | 303 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753203042 CA6802719 |
304 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA6802720 rs756669360 |
304 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1445010811 CA386829102 |
305 | L>I | No |
ClinGen gnomAD |
|
|
CA6802717 rs755232752 |
306 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1462350256 CA386828997 |
309 | L>V | No |
ClinGen gnomAD |
|
|
CA386828949 rs1166681256 |
310 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs751971274 CA6802716 |
310 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1403046328 CA386828886 |
312 | L>V | No |
ClinGen gnomAD |
|
|
rs550712278 CA6802713 |
313 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs776084638 CA6802712 |
314 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs142414221 CA6802710 |
316 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1511106 CA6802711 rs763640082 |
316 | R>W | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA386828809 rs1275238964 |
317 | G>E | No |
ClinGen gnomAD |
|
|
CA386828765 rs1321138769 |
319 | A>S | No |
ClinGen gnomAD |
|
|
rs772049057 CA6802708 |
319 | A>V | No |
ClinGen ExAC gnomAD |
|
|
COSM935371 rs1054772227 CA243777450 |
321 | R>C | endometrium Variant assessed as Somatic; 4.64e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1054772227 CA386828743 |
321 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1284879 CA6802706 VAR_031667 |
321 | R>H | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA386828736 rs1284879 |
321 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1054772227 CA386828740 |
321 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA386828679 rs1349010248 |
324 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA386828688 rs1456067170 |
324 | D>G | No |
ClinGen gnomAD |
|
|
CA386828630 rs568479301 |
327 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6802704 rs568479301 |
327 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs35505918 CA6802702 |
328 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6802700 rs564787131 |
328 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs35505918 CA6802701 |
328 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6802699 rs368533675 |
329 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6802698 rs546480514 |
329 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386828597 rs1592923732 |
331 | V>G | No |
ClinGen Ensembl |
|
|
rs1242976644 CA386828600 |
331 | V>L | No |
ClinGen gnomAD |
|
|
CA386828587 rs1218016385 |
332 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA386828591 rs1218016385 |
332 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
COSM935370 CA243777426 rs962013384 |
333 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA386828554 rs1242564690 |
335 | M>V | No |
ClinGen TOPMed |
|
|
rs377321618 CA243777198 |
336 | D>Y | No |
ClinGen ESP |
|
|
rs767104974 CA6802672 |
337 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs759379534 CA6802671 |
339 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA386828383 rs1592922506 |
339 | T>P | No |
ClinGen Ensembl |
|
|
rs1465312992 CA386828377 |
340 | L>F | No |
ClinGen gnomAD |
|
|
CA6802670 rs751616498 |
342 | R>C | No |
ClinGen ExAC gnomAD |
|
|
COSM935369 rs185010862 CA6802669 |
342 | R>H | endometrium haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA386828361 rs185010862 |
342 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA243777178 rs556397326 |
346 | L>P | No |
ClinGen Ensembl |
|
|
CA6802668 rs762780652 |
348 | S>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 350 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 351 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6802666 rs150474525 |
351 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA243777135 rs1013826195 |
352 | E>Q | No |
ClinGen Ensembl |
|
|
CA386828294 rs1254641537 |
353 | Q>* | No |
ClinGen gnomAD |
|
|
CA6802664 rs762139624 |
354 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6802663 rs776546854 |
356 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs779753593 CA6802633 |
357 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA6802631 rs372767854 |
358 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs764933227 CA6802630 |
359 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1208693712 CA386828139 |
360 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA6802629 rs757007980 |
361 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA386828123 rs1434451337 |
362 | Y>C | No |
ClinGen TOPMed |
|
|
COSM935368 CA386828079 rs1431874914 |
365 | E>G | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA6802626 rs193144574 |
365 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6802627 rs193144574 |
365 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA386828063 rs1303873612 |
366 | V>D | No |
ClinGen gnomAD |
|
|
CA386828048 rs1329543513 |
367 | L>P | No |
ClinGen gnomAD |
|
|
CA6802624 rs767633294 |
369 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6802623 rs552581667 |
369 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA386828024 rs767633294 |
369 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200610789 CA6802621 |
373 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6802620 rs201565397 |
373 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6802619 rs151288599 |
374 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6802618 rs368437876 |
375 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 377 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386827857 rs1375524415 |
378 | K>N | No |
ClinGen gnomAD |
|
|
CA386827845 rs1022217490 |
379 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA243776955 rs1022217490 |
379 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1447012256 CA386827816 |
381 | M>L | No |
ClinGen gnomAD |
|
|
CA6802616 rs746712140 |
381 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA386827814 rs1447012256 |
381 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 382 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779693957 CA6802615 |
384 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1487918389 CA386827746 |
385 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA386827706 rs1206392050 |
388 | M>V | No |
ClinGen gnomAD |
|
|
CA6802614 rs758044697 |
389 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA386827682 rs1592920819 |
389 | D>Y | No |
ClinGen Ensembl |
|
|
rs745371663 CA6802613 |
391 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs778849939 CA6802612 |
392 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6802610 rs202023606 |
392 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6802611 rs202023606 |
392 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386827609 rs1251325803 |
393 | T>S | No |
ClinGen TOPMed |
|
| TCGA novel | 394 | R>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6802609 rs144731755 |
394 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761982604 CA243776914 |
394 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs144731755 CA6802608 |
394 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386826854 rs1259190109 |
395 | R>K | No |
ClinGen Ensembl |
|
|
CA386826845 rs1401993664 |
396 | I>L | No |
ClinGen gnomAD |
|
| TCGA novel | 398 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs867363957 CA243775693 |
401 | A>T | No |
ClinGen TOPMed |
|
|
CA6802587 rs777531383 |
403 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA243775680 rs777531383 |
403 | S>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 405 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1464610557 CA386826697 |
406 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA6802585 rs142478473 |
408 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6802584 rs527765051 |
408 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA243775671 rs527765051 |
408 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6802586 rs142478473 |
408 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs868267174 CA243775670 |
409 | E>* | No |
ClinGen Ensembl |
|
|
rs1236879671 CA386826631 |
410 | T>S | No |
ClinGen gnomAD |
|
|
rs867874711 CA243775667 |
412 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs755187777 CA6802583 |
415 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6802582 rs771593148 |
416 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386826483 rs1363808563 |
421 | P>A | No |
ClinGen TOPMed |
|
|
CA386826448 rs1356223176 |
423 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 423 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs573561788 CA243775642 |
428 | G>D | No |
ClinGen TOPMed |
|
|
CA386826351 rs1190921935 |
429 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 429 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs560143684 CA6802577 |
430 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs887993049 CA243775625 |
432 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA386826293 rs1592911548 |
433 | C>S | No |
ClinGen Ensembl |
|
|
rs889690957 CA243775623 |
434 | P>A | No |
ClinGen Ensembl |
|
|
rs1049091761 CA243775616 COSM1223194 |
436 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA243775612 rs929291269 |
437 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1490325299 CA386826248 |
437 | M>V | No |
ClinGen TOPMed |
|
|
CA243775607 rs766217145 |
438 | R>G | No |
ClinGen Ensembl |
|
|
CA243775604 rs1050053171 |
439 | L>F | No |
ClinGen TOPMed |
|
|
rs947217107 CA243775600 |
440 | A>S | No |
ClinGen Ensembl |
|
|
CA386826131 rs1416964276 |
445 | H>L | No |
ClinGen TOPMed |
|
|
rs545016551 CA243775598 |
446 | R>G | No |
ClinGen 1000Genomes gnomAD |
|
|
rs777154983 CA6802575 |
446 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777154983 CA386826124 |
446 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs771713691 CA6802574 |
447 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386826105 rs1592911303 |
448 | V>G | No |
ClinGen Ensembl |
|
|
CA386826087 rs1177840909 |
450 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA386826075 rs1384606751 |
451 | R>H | No |
ClinGen TOPMed |
|
|
CA243775575 rs377165995 |
452 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA386826070 rs1430293401 |
452 | F>Y | No |
ClinGen TOPMed |
|
|
CA243775571 rs934738960 |
453 | P>S | No |
ClinGen Ensembl |
|
|
CA243775560 rs915759922 |
455 | A>T | No |
ClinGen TOPMed |
|
|
CA6802572 rs368672089 |
456 | E>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765792970 CA6802560 |
459 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1286342193 CA386824602 |
461 | K>N | No |
ClinGen TOPMed |
|
|
rs1211986241 CA386824585 |
462 | Y>C | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 463 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6802558 rs200507195 |
463 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs376380142 CA6802557 |
464 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 464 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1462870236 CA386824506 |
466 | S>T | No |
ClinGen gnomAD |
|
|
rs147692878 CA6802555 |
467 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA243773462 rs1051332891 |
468 | F>L | No |
ClinGen TOPMed |
|
|
CA386824390 rs1592899305 |
469 | L>I | No |
ClinGen Ensembl |
|
|
rs145374624 CA243773452 |
472 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs145374624 CA6802553 |
472 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1297527185 CA386824302 |
472 | R>Q | No |
ClinGen gnomAD |
|
|
CA6802551 rs779300095 |
475 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA243773441 rs779300095 |
475 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6802549 rs776470575 |
476 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs976017332 CA243773408 |
476 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs746829200 CA6802547 |
478 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1257603272 CA386824123 |
479 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 479 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1592899122 CA386824084 |
480 | T>P | No |
ClinGen Ensembl |
|
|
CA243773403 rs910019081 |
481 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA386824070 rs910019081 |
481 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs780084630 CA6802546 |
482 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs373371809 CA6802545 |
482 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386823991 rs1254616744 |
482 | K>T | No |
ClinGen gnomAD |
|
|
CA243773392 rs770827110 |
483 | L>P | No |
ClinGen Ensembl |
|
|
CA6802544 rs745905683 |
484 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1592899002 CA386823873 |
485 | D>A | No |
ClinGen Ensembl |
|
|
CA6802542 rs757817797 |
485 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757817797 CA6802543 |
485 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764516158 CA386823830 |
487 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6802540 rs764516158 |
487 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM3811093 CA6802541 rs754455277 |
487 | R>W | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6802539 rs756376055 |
489 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1396548117 CA386823768 |
490 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs753127637 CA6802538 |
490 | H>Y | No |
ClinGen ExAC TOPMed |
|
|
CA6802537 rs762631941 |
491 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6802536 rs762631941 |
491 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6802535 rs772684767 |
491 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386823726 rs1592898873 |
492 | D>A | No |
ClinGen Ensembl |
|
|
COSM3954214 CA386823733 rs1401246615 |
492 | D>N | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA6802531 rs768655166 |
497 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1038600550 CA243773356 |
497 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA6802529 rs775390181 |
498 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA6802526 rs779124226 |
502 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1315457698 CA386823351 |
503 | A>V | No |
ClinGen gnomAD |
|
|
CA6802501 rs781529188 |
505 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA243772786 rs1002600508 |
506 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA386822949 rs1446154621 |
509 | I>T | No |
ClinGen gnomAD |
|
|
rs1044938952 CA243772785 |
509 | I>V | No |
ClinGen gnomAD |
|
|
rs1592895985 CA386822906 |
511 | N>T | No |
ClinGen Ensembl |
|
|
rs751930130 CA6802499 |
513 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA6802498 rs778493072 |
513 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751930130 CA386822852 |
513 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1262804277 CA386822835 |
514 | Q>* | No |
ClinGen gnomAD |
|
|
rs1046562767 CA386822815 |
515 | Q>* | No |
ClinGen TOPMed |
|
|
CA243772773 rs1046562767 |
515 | Q>E | No |
ClinGen TOPMed |
|
|
rs984243791 CA243772769 |
515 | Q>H | No |
ClinGen Ensembl |
|
|
CA386822800 rs1219272808 |
516 | L>V | No |
ClinGen gnomAD |
|
|
CA6802497 rs746269074 |
519 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA386822738 rs1276795406 |
520 | K>R | No |
ClinGen gnomAD |
|
|
CA386822701 rs1312669002 |
523 | W>* | No |
ClinGen TOPMed |
|
|
CA386822114 rs1341664111 |
525 | A>T | Variant assessed as Somatic; 4.624e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA386822095 rs1394704434 |
526 | P>L | No |
ClinGen gnomAD |
|
|
rs753259896 COSM1127559 CA6802496 |
526 | P>T | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA386822092 rs1346222844 |
527 | L>M | No |
ClinGen TOPMed |
|
| TCGA novel | 527 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386822088 rs1433321558 |
527 | L>Q | No |
ClinGen TOPMed |
|
|
rs1592895750 CA386822073 |
528 | H>P | No |
ClinGen Ensembl |
|
|
CA386822078 rs1403384549 |
528 | H>Y | No |
ClinGen gnomAD |
|
|
CA6802493 rs752747728 |
534 | C>* | No |
ClinGen ExAC gnomAD |
|
|
CA6802494 rs760518348 |
534 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA386822002 rs1425164336 |
534 | C>Y | No |
ClinGen gnomAD |
|
|
rs372608661 CA6802492 |
537 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs148498985 CA6802491 |
537 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386821963 rs148498985 |
537 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs976749254 CA386821960 |
538 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs976749254 CA243772721 |
538 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs369328234 CA386821941 |
539 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369328234 CA6802490 |
539 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6802489 rs771246357 |
540 | D>E | No |
ClinGen ExAC TOPMed |
|
|
CA6802486 rs202127063 |
543 | D>E | No |
ClinGen 1000Genomes ExAC |
|
|
rs769177666 CA6802483 |
544 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1188619 CA6802484 rs769177666 |
544 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA6802485 rs61759863 |
544 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6802482 rs201266361 |
546 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA386821823 rs1335599721 |
547 | D>E | No |
ClinGen gnomAD |
|
|
CA6802481 rs780440026 |
547 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1243021183 CA386821835 |
547 | D>H | No |
ClinGen gnomAD |
|
|
CA386821833 rs1243021183 |
547 | D>N | No |
ClinGen gnomAD |
|
|
CA6802479 rs756839666 |
548 | V>G | No |
ClinGen ExAC |
|
|
CA386821801 rs753586566 |
549 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA6802477 rs753586566 |
549 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs755585939 CA6802475 |
551 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA386821748 rs1592895354 |
552 | E>G | No |
ClinGen Ensembl |
|
|
rs752268327 CA6802474 |
553 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765455247 CA6802450 |
554 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA6802448 rs545710175 |
556 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6802447 rs533477147 |
557 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6802446 rs761166990 |
557 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243772155 rs372737439 |
559 | A>S | No |
ClinGen Ensembl |
|
|
rs1411049410 CA386821534 |
559 | A>V | No |
ClinGen TOPMed |
|
|
CA6802444 rs772470547 |
561 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs199548072 COSM692011 CA6802443 |
562 | P>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6802441 rs144631652 |
564 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386821462 rs1197331760 |
565 | A>D | No |
ClinGen gnomAD |
|
| TCGA novel | 566 | I>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386821448 rs1480161678 |
566 | I>T | No |
ClinGen gnomAD |
|
|
CA386821441 rs1196473598 |
567 | V>I | No |
ClinGen gnomAD |
|
|
rs61740514 CA243772145 |
568 | R>* | No |
ClinGen gnomAD |
|
|
rs780843452 CA386821423 |
568 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780843452 CA6802439 |
568 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs754469360 CA6802438 |
569 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386821373 rs1280322523 |
571 | Y>C | No |
ClinGen gnomAD |
|
|
CA6802436 rs778676077 |
575 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6802435 rs544486200 |
575 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs544486200 CA243772131 |
575 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1359863327 CA386821283 |
577 | E>K | No |
ClinGen gnomAD |
|
|
CA386821219 rs1227793506 |
578 | E>D | No |
ClinGen TOPMed |
|
|
CA386821208 rs750205721 |
579 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750205721 CA6802434 |
579 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1203486700 CA386821195 |
580 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs775386741 CA6802433 |
581 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6802432 rs757459059 |
583 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA386821140 rs1469292923 |
583 | A>V | No |
ClinGen gnomAD |
|
|
rs149732792 CA6802431 |
584 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6802430 rs149732792 |
584 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6802427 rs542734858 COSM935367 |
585 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs760009413 CA6802426 |
585 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs760009413 CA386821099 |
585 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs542734858 CA386821101 |
585 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1566038397 CA386821085 |
586 | F>L | No |
ClinGen Ensembl |
|
|
rs774764449 CA6802425 |
587 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771265537 CA6802424 |
591 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6802423 rs367924897 |
591 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA243772097 rs367924897 |
591 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6802421 rs201384471 |
593 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243772089 rs201384471 |
593 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 594 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386820865 rs1592890873 |
594 | W>S | No |
ClinGen Ensembl |
|
|
rs374068325 CA243772075 |
595 | L>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA6802418 rs779467476 |
596 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs150572787 CA6802417 |
596 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6802414 rs756981043 |
597 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778768025 CA6802415 |
597 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243772039 rs935661035 |
598 | E>* | No |
ClinGen TOPMed |
|
|
CA386820752 rs1401356884 |
599 | T>N | No |
ClinGen gnomAD |
|
|
CA386820688 rs1372968692 |
602 | F>C | No |
ClinGen gnomAD |
|
|
RCV000203124 CA249324 RCV000892478 rs142556970 |
602 | F>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6802412 rs756360387 |
603 | S>F | No |
ClinGen ExAC |
|
|
rs137949771 CA6802413 |
603 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386820534 rs1460574797 |
606 | P>L | No |
ClinGen gnomAD |
|
|
CA6802409 rs767551203 |
606 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1187610773 CA386820488 |
607 | E>D | No |
ClinGen TOPMed |
|
|
CA6802408 rs760081807 |
609 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA6802375 rs772985946 |
611 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs781218570 CA6802372 |
615 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866715063 CA386819491 |
616 | V>L | No |
ClinGen TOPMed |
|
|
rs866715063 CA243771335 |
616 | V>M | No |
ClinGen TOPMed |
|
|
CA386819444 rs1362913609 |
617 | S>F | No |
ClinGen gnomAD |
|
|
CA386819467 rs1451167892 |
617 | S>P | No |
ClinGen gnomAD |
|
|
rs1481151971 CA386819364 |
620 | R>C | No |
ClinGen gnomAD |
|
|
CA386819344 rs1266610312 |
621 | A>S | No |
ClinGen gnomAD |
|
|
rs758962973 CA6802368 |
623 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA386819302 rs1353100960 |
624 | R>G | No |
ClinGen TOPMed |
|
| TCGA novel | 624 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386819255 rs1350198342 |
627 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA6802365 rs757509234 |
629 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs767038020 CA6802362 |
634 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA386819132 rs1316654080 |
635 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA386819127 rs1316654080 |
635 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA386819077 rs1470639894 |
639 | V>M | No |
ClinGen gnomAD |
|
|
CA386819035 rs1426578588 |
641 | Q>R | No |
ClinGen gnomAD |
|
|
CA243771280 COSM1243557 rs954944392 |
644 | T>M | oesophagus [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs974858663 CA243771276 |
646 | A>G | No |
ClinGen Ensembl |
|
|
CA386818935 rs1257038325 |
648 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1257038325 CA386818938 |
648 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
CA6802356 rs762452854 |
650 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs964138813 CA243771272 |
650 | T>I | No |
ClinGen Ensembl |
|
|
CA6802351 rs776525047 |
655 | K>R | No |
ClinGen ExAC |
|
|
CA6802330 rs776274311 |
659 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs547269040 CA6802329 |
661 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA386818628 rs1384771360 |
662 | Q>E | No |
ClinGen gnomAD |
|
| TCGA novel | 662 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA386818607 rs1178010805 |
663 | W>R | No |
ClinGen gnomAD |
|
|
rs775802135 CA6802327 |
664 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA386818561 rs1452674838 |
665 | S>L | No |
ClinGen gnomAD |
|
|
rs79574414 CA243771199 |
665 | S>P | No |
ClinGen gnomAD |
|
|
CA386818559 rs1294617102 |
666 | A>T | No |
ClinGen gnomAD |
|
|
rs1055637035 CA243771193 |
668 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA243771196 rs1055637035 |
668 | R>L | No |
ClinGen TOPMed |
|
|
CA6802326 rs538274111 |
671 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1274187327 CA386818473 |
672 | A>G | No |
ClinGen gnomAD |
|
|
rs745903688 CA6802325 |
672 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA386818469 rs1290506174 |
673 | P>S | No |
ClinGen gnomAD |
|
|
CA386818462 rs1592883862 |
674 | N>H | No |
ClinGen Ensembl |
|
|
CA6802324 rs779090932 |
674 | N>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 674 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1375158842 CA386818440 |
675 | P>R | No |
ClinGen gnomAD |
|
|
rs112031974 CA6802323 |
678 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243771182 rs1005041866 |
679 | A>T | No |
ClinGen TOPMed |
|
|
CA6802322 rs528745100 |
679 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs571017946 CA6802321 |
680 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6802320 rs756441150 |
682 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243771175 rs769115938 |
682 | H>R | No |
ClinGen Ensembl |
|
|
rs1566035113 CA386818350 |
684 | G>S | No |
ClinGen Ensembl |
|
|
CA6802318 rs779641843 |
685 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1592883551 CA386818329 |
687 | R>C | No |
ClinGen Ensembl |
|
|
CA386818327 rs1288897037 |
687 | R>P | No |
ClinGen TOPMed |
|
|
CA6802317 rs758083002 |
688 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs749908078 CA6802316 |
689 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1225475960 CA386818308 |
690 | R>L | No |
ClinGen TOPMed |
|
|
rs551224667 CA243771166 |
691 | W>* | No |
ClinGen 1000Genomes |
|
|
rs761648337 CA6802314 |
694 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs764858118 CA6802315 |
694 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA243771152 rs940752800 |
696 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs753745123 CA6802313 |
696 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375479601 CA6802312 |
699 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375479601 CA243771139 |
699 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA386818253 rs1218431068 |
699 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1051685723 CA243771129 |
701 | A>T | No |
ClinGen Ensembl |
|
|
CA386818226 rs200091326 |
702 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6802294 rs200091326 |
702 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200200008 CA6802291 |
703 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1592874826 CA386818215 |
704 | C>G | No |
ClinGen Ensembl |
|
|
rs957946838 CA386818214 |
704 | C>S | No |
ClinGen TOPMed |
|
|
CA243763980 rs957946838 |
704 | C>Y | No |
ClinGen TOPMed |
|
|
rs1364085746 CA386818207 |
705 | S>N | No |
ClinGen gnomAD |
|
|
rs1364085746 CA386818206 |
705 | S>T | No |
ClinGen gnomAD |
|
|
CA6802289 rs774574207 |
706 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766530293 CA6802288 |
706 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766530293 CA386818199 |
706 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1357783723 CA386818195 |
707 | T>I | No |
ClinGen TOPMed |
|
|
CA386818178 rs1160591740 |
710 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs776452112 CA243763953 |
711 | V>L | No |
ClinGen TOPMed |
|
|
CA386818161 rs1216198065 |
713 | L>M | No |
ClinGen TOPMed |
|
|
CA386818148 rs1416823518 |
714 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA386818143 rs770259667 |
715 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA386818138 rs1200076786 |
715 | D>V | No |
ClinGen gnomAD |
|
|
CA6802285 rs770259667 |
715 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6802283 rs776973911 |
716 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs768938790 CA6802282 |
717 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA386818111 rs768938790 |
717 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA6802280 rs778582088 |
720 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1236891131 CA386818076 |
721 | D>H | No |
ClinGen gnomAD |
|
|
CA386818060 rs1566031700 |
722 | P>S | No |
ClinGen Ensembl |
|
|
CA6802279 rs756894984 |
723 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs748803822 CA6802278 |
725 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6802277 rs777473977 |
727 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs773605867 CA243763929 |
728 | T>K | No |
ClinGen Ensembl |
|
|
rs756109348 CA6802275 |
731 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs927997287 CA386817962 |
731 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs927997287 CA243763890 |
731 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs756109348 CA243763900 |
731 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 732 | Q>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1410580668 CA386817934 |
734 | L>P | No |
ClinGen gnomAD |
|
|
CA6802273 rs767574570 |
735 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1318640795 CA386817915 |
736 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6802271 rs751341735 |
737 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766592126 CA6802269 |
737 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs751341735 CA6802270 COSM3670970 |
737 | R>W | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs763130316 CA6802268 |
738 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA386817903 rs763130316 |
738 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs909874027 CA243763879 |
741 | R>K | No |
ClinGen Ensembl |
|
|
rs781234233 CA6802252 |
741 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1566029919 CA386817235 |
742 | L>M | No |
ClinGen Ensembl |
|
|
rs373150116 CA243763005 |
742 | L>P | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs754910749 CA6802251 |
745 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs754910749 CA386817183 |
745 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1278465250 CA386817172 |
746 | E>G | No |
ClinGen gnomAD |
|
|
rs868847764 CA243762995 |
746 | E>K | No |
ClinGen Ensembl |
|
|
rs751347203 CA386817133 |
748 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA6802250 rs751347203 |
748 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1251538409 CA386817126 |
749 | N>D | No |
ClinGen TOPMed |
|
|
TCGA novel rs1342138212 CA386817117 |
749 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed gnomAD NCI-TCGA |
| TCGA novel | 752 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6802249 rs779766676 |
752 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA6802248 rs201490687 |
753 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386817012 rs1315321704 |
754 | L>P | No |
ClinGen gnomAD |
|
|
CA386816997 rs1469026104 |
755 | E>* | No |
ClinGen TOPMed |
|
|
CA6802232 rs138940004 |
760 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146865681 CA6802231 |
762 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1383969340 CA386816677 |
763 | E>Q | No |
ClinGen gnomAD |
|
|
rs142515094 CA6802230 |
764 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA243762637 rs1028741542 |
765 | L>P | No |
ClinGen Ensembl |
|
|
rs750243557 CA243762628 |
767 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6802227 rs1031953615 |
767 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs750243557 CA6802229 |
767 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA243762606 rs1017722391 |
769 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1271461976 CA386816539 |
771 | A>E | No |
ClinGen gnomAD |
|
|
rs999107517 CA243762605 |
772 | T>A | No |
ClinGen Ensembl |
|
|
CA6802226 rs201571351 |
772 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6802225 rs757514260 |
773 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs367641450 CA6802224 |
773 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374813048 CA6802223 |
774 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371474518 CA6802222 |
774 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1592867901 CA386816454 |
777 | E>Q | No |
ClinGen Ensembl |
|
|
CA243762590 rs773726783 |
778 | V>L | No |
ClinGen TOPMed |
|
| TCGA novel | 779 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6802220 rs768084694 |
780 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA386816414 rs768084694 |
780 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6802218 rs201380507 |
784 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA243762578 rs898147571 |
785 | A>D | No |
ClinGen TOPMed |
|
|
CA386816354 rs898147571 |
785 | A>V | No |
ClinGen TOPMed |
|
|
CA6802216 rs769890741 |
786 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764961206 CA6802217 |
786 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767981036 CA6802214 |
787 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs753950290 CA6802213 |
787 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs767981036 CA386816327 |
787 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs767981036 CA386816323 |
787 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1481035240 CA386816305 |
788 | E>A | No |
ClinGen gnomAD |
|
|
rs775239286 CA6802212 |
788 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs772081449 CA6802211 |
789 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745634475 CA6802210 |
789 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778732471 CA6802209 |
790 | Q>R | No |
ClinGen ExAC |
|
|
CA243762552 rs1045422629 CA386816234 |
791 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA6802207 rs749579265 |
794 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs371604812 CA243762538 |
794 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6802206 rs371604812 |
794 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6802204 rs201422502 |
795 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6802205 rs201422502 |
795 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1324138018 CA386816182 |
796 | K>R | No |
ClinGen gnomAD |
|
|
RCV000919888 CA6802202 rs140447785 |
797 | A>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA386816135 rs1211307625 |
799 | L>P | No |
ClinGen gnomAD |
|
|
CA386816121 rs1270622378 |
800 | G>V | No |
ClinGen gnomAD |
|
|
CA386816116 rs1386793909 |
801 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA6802198 rs776086015 |
802 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1341251148 CA386816088 |
803 | G>D | No |
ClinGen gnomAD |
|
|
rs1314237816 CA386816094 |
803 | G>S | No |
ClinGen TOPMed |
No associated diseases with O95294
7 regional properties for O95294
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | C2 domain | 1 - 113 | IPR000008-1 |
| domain | C2 domain | 116 - 233 | IPR000008-2 |
| conserved_site | Zinc finger, Btk motif | 674 - 710 | IPR001562 |
| domain | Pleckstrin homology domain | 565 - 674 | IPR001849 |
| domain | Ras GTPase-activating domain | 242 - 604 | IPR001936 |
| conserved_site | Ras GTPase-activating protein, conserved site | 467 - 481 | IPR023152 |
| domain | RASAL, RasGAP domain | 263 - 549 | IPR037776 |
1 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. |
3 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. |
| metal ion binding | Binding to a metal ion. |
| phospholipid binding | Binding to a phospholipid, a class of lipids containing phosphoric acid as a mono- or diester. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| cell differentiation | The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
| cellular response to calcium ion | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a calcium ion stimulus. |
| intracellular signal transduction | The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. |
| negative regulation of Ras protein signal transduction | Any process that stops, prevents, or reduces the frequency, rate or extent of Ras protein signal transduction. |
| positive regulation of dendrite extension | Any process that activates or increases the frequency, rate or extent of dendrite extension. |
| regulation of GTPase activity | Any process that modulates the rate of GTP hydrolysis by a GTPase. |
| 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. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P21359 | NF1 | Neurofibromin | Homo sapiens (Human) | PR |
| Q86YV0 | RASAL3 | RAS protein activator like-3 | Homo sapiens (Human) | PR |
| Q5VWQ8 | DAB2IP | Disabled homolog 2-interacting protein | Homo sapiens (Human) | PR |
| Q9Z268 | Rasal1 | RasGAP-activating-like protein 1 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAKSSSLNVR | VVEGRALPAK | DVSGSSDPYC | LVKVDDEVVA | RTATVWRSLG | PFWGEEYTVH |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LPLDFHQLAF | YVLDEDTVGH | DDIIGKISLS | REAITADPRG | IDSWINLSRV | DPDAEVQGEI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| CLSVQMLEDG | QGRCLRCHVL | QARDLAPRDI | SGTSDPFARV | FWGSQSLETS | TIKKTRFPHW |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DEVLELREMP | GAPSPLRVEL | WDWDMVGKND | FLGMVEFSPK | TLQQKPPKGW | FRLLPFPRAE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EDSGGNLGAL | RVKVRLIEDR | VLPSQCYQPL | MELLMESVQG | PAEEDTASPL | ALLEELTLGD |
| 310 | 320 | 330 | 340 | 350 | 360 |
| CRQDLATKLV | KLFLGRGLAG | RFLDYLTRRE | VARTMDPNTL | FRSNSLASKS | MEQFMKLVGM |
| 370 | 380 | 390 | 400 | 410 | 420 |
| PYLHEVLKPV | ISRVFEEKKY | MELDPCKMDL | GRTRRISFKG | ALSEEQMRET | SLGLLTGYLG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| PIVDAIVGSV | GRCPPAMRLA | FKQLHRRVEE | RFPQAEHQDV | KYLAISGFLF | LRFFAPAILT |
| 490 | 500 | 510 | 520 | 530 | 540 |
| PKLFDLRDQH | ADPQTSRSLL | LLAKAVQSIG | NLGQQLGQGK | ELWMAPLHPF | LLQCVSRVRD |
| 550 | 560 | 570 | 580 | 590 | 600 |
| FLDRLVDVDG | DEAGVPARAL | FPPSAIVREG | YLLKRKEEPA | GLATRFAFKK | RYVWLSGETL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| SFSKSPEWQM | CHSIPVSHIR | AVERVDEGAF | QLPHVMQVVT | QDGTGALHTT | YLQCKNVNEL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| NQWLSALRKA | SAPNPNKLAA | CHPGAFRSAR | WTCCLQAERS | AAGCSRTHSA | VTLGDWSDPL |
| 730 | 740 | 750 | 760 | 770 | 780 |
| DPDAEAQTVY | RQLLLGRDQL | RLKLLEDSNM | DTTLEADTGA | CPEVLARQRA | ATARLLEVLA |
| 790 | 800 | ||||
| DLDRAHEEFQ | QQERGKAALG | PLGP |