Q96M60
PR
Gene name |
FAM227B (C15orf33) |
Protein name |
Protein FAM227B |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:196951 |
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 Q96M60
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q96M60-F1 | Predicted | AlphaFoldDB |
456 variants for Q96M60
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
COSM962491 rs140471517 CA7552354 |
5 | R>* | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA7552353 rs151268951 |
5 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7552352 rs142368922 |
6 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7552351 rs748286828 |
7 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA392360236 rs1226316791 |
8 | Q>* | No |
ClinGen gnomAD |
|
|
rs781310073 CA7552350 |
9 | R>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7552349 rs140973601 |
12 | S>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs750338717 CA7552348 |
13 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs923367839 CA269591088 |
14 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA7552345 rs753547359 |
15 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs757063444 CA7552346 |
15 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1447133830 CA392360138 |
16 | P>L | No |
ClinGen gnomAD |
|
|
rs144125881 CA7552342 |
17 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7552341 rs201222764 |
17 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144125881 CA392360132 |
17 | G>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA392359482 rs766932175 |
18 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 18 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7552320 rs766932175 |
18 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 21 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs139422415 CA7552319 |
23 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA392359437 rs1443749336 |
24 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 25 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1391580112 CA392359424 |
26 | I>T | No |
ClinGen gnomAD |
|
|
CA392359426 rs1266834280 |
26 | I>V | No |
ClinGen TOPMed |
|
|
CA7552318 rs773607982 |
29 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA7552316 rs761968765 |
30 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1461638001 CA392359397 |
30 | L>I | No |
ClinGen gnomAD |
|
| TCGA novel | 35 | W>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1179393603 CA392359358 |
35 | W>R | No |
ClinGen gnomAD |
|
|
CA392359324 rs1436677229 |
37 | Y>C | No |
ClinGen gnomAD |
|
|
rs1436677229 CA392359323 |
37 | Y>F | No |
ClinGen gnomAD |
|
|
CA392359313 rs1192832583 |
38 | W>C | No |
ClinGen gnomAD |
|
|
rs748041047 CA7552285 |
40 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA7552284 rs780829552 |
43 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746625279 CA7552282 |
47 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754701106 CA7552283 |
47 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1211432792 CA392359227 |
50 | W>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 51 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 52 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1045435212 CA269577122 |
53 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA392359206 rs1226287185 |
53 | T>S | No |
ClinGen gnomAD |
|
|
CA392359197 rs1471596223 |
55 | K>E | No |
ClinGen TOPMed |
|
|
CA392359196 rs1189738548 |
55 | K>T | No |
ClinGen TOPMed |
|
| TCGA novel | 57 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757695289 CA7552277 |
58 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7552278 rs765842446 |
58 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs754276315 CA7552276 |
59 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7552272 rs200235351 |
60 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs149665358 CA7552275 |
60 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7552274 rs149665358 |
60 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7552273 rs200235351 |
60 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1036394496 CA392359156 |
61 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA269577053 rs1036394496 |
61 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA7552270 rs774567228 |
61 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7552269 rs769820981 |
62 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA7552268 rs566078034 |
63 | F>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA392359147 rs1598413787 |
63 | F>L | No |
ClinGen Ensembl |
|
|
CA392359141 rs1186748022 |
64 | V>I | No |
ClinGen gnomAD |
|
|
CA7552267 rs778713585 COSM1373332 |
66 | I>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1188651613 CA392359128 |
66 | I>V | No |
ClinGen gnomAD |
|
|
rs1247862997 CA392359121 |
67 | Y>D | No |
ClinGen gnomAD |
|
|
CA269577030 rs937163066 |
68 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA392359105 rs1598413629 |
69 | H>Q | No |
ClinGen Ensembl |
|
|
CA269577029 rs908361869 |
69 | H>R | No |
ClinGen TOPMed |
|
|
rs1259607590 CA392359100 |
70 | L>P | No |
ClinGen gnomAD |
|
|
rs779619453 CA7552264 |
74 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392359065 rs1309523456 |
75 | P>H | No |
ClinGen TOPMed |
|
|
rs905733396 COSM701123 CA269577026 |
76 | R>* | lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs200293889 CA392359060 |
76 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200293889 CA7552263 |
76 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7552261 rs778260905 |
78 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs754254597 CA7552260 |
80 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA7552259 rs754254597 |
80 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs756487717 CA7552257 |
83 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7552256 rs752971532 |
84 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA269577015 rs780019488 |
84 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA269577014 rs975523597 |
85 | E>D | No |
ClinGen TOPMed |
|
|
CA392359003 rs1165348188 |
85 | E>G | No |
ClinGen gnomAD |
|
|
COSM1608460 CA7552255 rs767916395 |
86 | S>* | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA269577010 rs571847690 |
90 | E>* | No |
ClinGen gnomAD |
|
|
CA269577005 rs113577054 |
92 | S>L | No |
ClinGen Ensembl |
|
|
CA269577001 rs965066062 |
93 | L>P | No |
ClinGen TOPMed |
|
|
CA7552254 rs759817302 |
94 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA392358938 rs1217714696 |
95 | L>S | No |
ClinGen Ensembl |
|
|
CA7552253 rs373728691 |
96 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs373728691 CA269576998 |
96 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA7552251 rs766331308 |
101 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA7552250 rs139476148 |
105 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1349289991 CA392358870 |
105 | W>G | No |
ClinGen gnomAD |
|
|
rs776375634 CA392358850 |
107 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs776375634 CA7552249 |
107 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 110 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7552248 rs768505388 |
111 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA392358816 rs1279498271 |
112 | T>S | No |
ClinGen gnomAD |
|
|
CA7552231 rs762878568 |
113 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs759869055 CA7552229 |
114 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs764079442 CA7552228 |
115 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA392358709 rs1171612738 |
115 | Y>H | No |
ClinGen gnomAD |
|
|
CA392358674 rs1192630529 |
116 | R>K | No |
ClinGen gnomAD |
|
|
rs78578834 CA7552226 |
120 | R>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA392358612 rs184983763 |
120 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7552225 rs184983763 |
120 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs201076822 CA269576183 |
121 | Y>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1278819159 CA392358570 |
122 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs554720443 CA7552222 COSM434000 |
123 | E>K | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA269576178 rs554720443 |
123 | E>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 125 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7552221 rs748816760 |
126 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7552219 rs150531376 |
127 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1400392324 CA392358166 |
129 | H>R | No |
ClinGen gnomAD |
|
|
rs781708558 CA7552217 |
129 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA392358117 rs1342084505 |
131 | K>N | No |
ClinGen gnomAD |
|
|
CA392358111 rs1311049085 |
132 | K>E | No |
ClinGen gnomAD |
|
|
CA7552216 rs755337204 |
133 | K>M | No |
ClinGen ExAC gnomAD |
|
| rs745700824 | 134 | I>D | Variant assessed as Somatic; 5.055e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs143539780 CA7552214 |
134 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs758637344 CA7552212 |
135 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA7552213 rs780212009 |
135 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA7552186 rs757265347 |
136 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7552185 rs752631597 |
136 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139216008 CA7552184 |
138 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139216008 CA392463944 |
138 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7552183 rs754929132 |
139 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA7552181 rs766166196 |
140 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA7552182 rs751358100 |
140 | M>L | No |
ClinGen ExAC TOPMed |
|
|
CA392463932 rs751358100 |
140 | M>V | No |
ClinGen ExAC TOPMed |
|
|
CA392463912 rs1354255851 |
142 | T>I | No |
ClinGen TOPMed |
|
|
TCGA novel rs1567618958 CA392463904 |
143 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA270299751 rs1057498484 |
143 | E>G | No |
ClinGen Ensembl |
|
|
rs1394242901 CA392463909 |
143 | E>K | No |
ClinGen gnomAD |
|
|
rs368177685 CA7552179 |
144 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7552177 rs374007454 |
146 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761482897 CA7552176 |
147 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA270299744 rs770891738 |
147 | E>Q | No |
ClinGen Ensembl |
|
|
CA392463645 rs1307605963 |
148 | G>D | No |
ClinGen gnomAD |
|
|
CA7552155 rs776003600 |
149 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA392463631 rs1424062272 |
150 | S>T | No |
ClinGen gnomAD |
|
|
rs929904831 CA270299545 |
152 | T>I | No |
ClinGen TOPMed |
|
|
rs772326260 CA7552154 |
154 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA7552152 rs572574816 |
156 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs771189627 CA7552151 |
157 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA270299542 rs879882118 |
161 | Q>* | No |
ClinGen TOPMed |
|
|
CA7552148 rs777744756 |
163 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA392463545 rs1479588249 |
163 | P>L | No |
ClinGen TOPMed |
|
|
rs769855630 CA7552147 |
164 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs746925941 CA7552146 |
165 | H>R | No |
ClinGen ExAC |
|
|
CA392463520 rs1355416998 |
167 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs919837777 CA270299533 |
168 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs186375268 CA7552144 |
170 | Q>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 171 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778821824 CA392463445 |
173 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778821824 CA7552142 |
173 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs571765710 CA7552141 |
175 | I>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA392463419 rs571765710 |
175 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 176 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 176 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374910013 CA7552140 |
178 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1352293671 CA392463364 |
179 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA270299523 rs963719437 |
179 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1172589863 CA392463330 |
181 | F>L | No |
ClinGen gnomAD |
|
|
CA392463236 rs1451459329 |
183 | E>K | No |
ClinGen gnomAD |
|
|
rs1290994092 CA392463219 |
185 | V>F | No |
ClinGen gnomAD |
|
|
rs752299686 CA7552119 |
185 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA392463221 rs1290994092 |
185 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 190 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1349186237 CA392463177 |
190 | K>N | No |
ClinGen gnomAD |
|
|
rs766903438 CA7552118 |
191 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1240976482 CA392463168 |
192 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
CA392463167 rs1240976482 |
192 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs755509614 CA7552117 |
193 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752012720 CA7552116 |
195 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392463133 rs766736019 |
197 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs766736019 CA7552115 |
197 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs773437551 CA7552113 |
199 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs761913680 CA7552111 |
200 | A>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 200 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA270299150 rs766568922 |
203 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA7552110 rs776805611 |
204 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs946350300 CA270299147 |
205 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA392463082 rs1410658565 |
206 | F>L | No |
ClinGen TOPMed |
|
|
rs147299587 CA7552108 |
207 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA392463070 rs1401689235 |
207 | W>L | No |
ClinGen TOPMed |
|
|
rs774360662 CA7552107 |
209 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392463051 rs774360662 |
209 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA270299141 rs898297162 |
212 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs780889968 CA7552081 |
216 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7552080 rs768284161 |
216 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs780889968 CA392462536 |
216 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780889968 CA392462537 |
216 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140476532 CA7552078 |
224 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1418442653 CA392462450 |
226 | D>G | No |
ClinGen gnomAD |
|
|
CA7552076 rs750848770 |
226 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1397396692 CA392462398 |
230 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 231 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1282823731 CA392462362 |
232 | Y>* | No |
ClinGen TOPMed |
|
|
CA7552075 rs779351886 |
232 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
CA392462368 rs1239251554 |
232 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
rs757500937 CA7552074 |
236 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA392462314 rs1598292969 |
236 | F>S | No |
ClinGen Ensembl |
|
|
CA392462288 rs1199039333 |
237 | M>I | No |
ClinGen gnomAD |
|
|
CA392462299 rs1457498930 |
237 | M>L | No |
ClinGen gnomAD |
|
|
rs148166394 CA7552073 |
237 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7552072 rs764464806 |
238 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7552071 rs760954935 |
239 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs752861178 CA7552070 |
240 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA392462253 rs1453860057 |
240 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA7552068 rs549573630 |
242 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM962487 CA7552067 rs762968186 |
243 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs932462633 CA392462219 |
243 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs932462633 CA270297656 |
243 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs769635887 CA7552065 |
244 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA392462198 rs1164741857 |
246 | A>T | No |
ClinGen gnomAD |
|
|
rs796400266 CA7552063 |
249 | Q>* | No |
ClinGen TOPMed |
|
|
CA7552036 rs760336809 |
250 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392460903 rs775060315 |
250 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760336809 CA7552035 |
250 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1241622121 CA392460900 |
251 | Y>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1241622121 CA392460901 COSM1373329 |
251 | Y>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA7552032 rs143834769 |
252 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA392460891 rs1291933554 |
252 | P>R | No |
ClinGen TOPMed |
|
|
CA392460894 rs143834769 |
252 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1326611488 CA392460884 |
253 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA392460877 rs1220187192 |
254 | C>Y | No |
ClinGen gnomAD |
|
|
rs1370160619 CA392460870 |
255 | L>S | No |
ClinGen gnomAD |
|
|
CA270291447 rs74877951 |
257 | Q>K | No |
ClinGen gnomAD |
|
|
rs773885690 CA7552031 |
258 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1039076258 CA392460847 |
259 | I>L | No |
ClinGen TOPMed |
|
|
CA392460845 rs1248150834 |
259 | I>T | No |
ClinGen TOPMed |
|
|
rs1039076258 CA270291444 |
259 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs749769999 CA7552029 |
260 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA7552030 rs533735444 |
260 | Y>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs778302617 CA7552028 |
262 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM701125 CA7552027 rs148925050 |
262 | T>M | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1433624701 CA392460818 |
264 | H>N | No |
ClinGen gnomAD |
|
|
rs890554575 CA270291435 |
266 | A>T | No |
ClinGen TOPMed |
|
|
CA7552025 rs371405816 COSM962486 |
270 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs751632486 CA7552023 |
272 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs575178196 CA270291426 |
273 | L>F | No |
ClinGen Ensembl |
|
|
CA270291422 rs150212571 |
276 | D>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1481954359 CA392460734 |
276 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA270291420 rs867818707 |
277 | E>K | No |
ClinGen Ensembl |
|
|
rs141301386 CA7552020 |
278 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367563798 CA270291417 |
280 | E>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1042600953 CA392460701 CA270291414 |
280 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs763885106 CA7552019 |
280 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1341715678 CA392460696 |
281 | D>A | No |
ClinGen gnomAD |
|
|
CA392460691 rs760535005 |
282 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA392460661 rs1394380046 |
286 | I>T | No |
ClinGen gnomAD |
|
|
rs1170034019 CA392460664 |
286 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 290 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1303682808 CA392460623 |
291 | S>* | No |
ClinGen gnomAD |
|
|
rs756019089 CA7552001 |
296 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1182941479 CA392460574 |
297 | K>E | No |
ClinGen TOPMed |
|
| TCGA novel | 298 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7552000 COSM3672066 rs185086177 |
298 | G>V | prostate [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs374653018 CA7551999 |
301 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA392460537 rs1196132818 |
302 | H>Y | No |
ClinGen TOPMed |
|
|
CA270283572 rs201363504 |
303 | W>* | No |
ClinGen gnomAD |
|
|
CA392460511 rs1339721749 |
305 | L>R | No |
ClinGen gnomAD |
|
|
CA270283570 rs759944518 |
307 | E>A | No |
ClinGen Ensembl |
|
|
rs200704844 CA7551997 |
311 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA392460473 rs1235994329 |
311 | T>I | No |
ClinGen gnomAD |
|
|
rs201478342 CA7551996 |
314 | H>N | No |
ClinGen 1000Genomes ExAC |
|
|
rs1458547609 CA392460453 |
314 | H>Q | No |
ClinGen gnomAD |
|
|
CA392460456 rs1177612241 |
314 | H>R | No |
ClinGen gnomAD |
|
|
rs571162637 CA7551995 |
315 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1360950724 CA392460448 |
315 | G>V | No |
ClinGen TOPMed |
|
|
rs772835002 CA7551994 |
317 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7551993 rs770465182 |
319 | A>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 319 | A>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA270283562 rs867707303 |
319 | A>S | No |
ClinGen Ensembl |
|
|
CA392460407 rs1351577880 |
322 | K>E | No |
ClinGen gnomAD |
|
|
rs776884422 CA7551991 |
322 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392460396 rs1357886487 |
323 | S>L | No |
ClinGen gnomAD |
|
|
rs1447752364 CA392460395 |
324 | V>I | No |
ClinGen gnomAD |
|
|
rs769008771 CA7551990 |
325 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA392460386 rs1330667320 |
325 | K>R | No |
ClinGen gnomAD |
|
|
CA7551989 rs747204009 |
326 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs549799488 CA7551987 |
327 | R>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs745992879 CA7551986 |
328 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA7551985 rs778928754 |
329 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA270283548 rs939058214 |
330 | D>G | No |
ClinGen TOPMed |
|
|
rs756074006 CA7551984 |
332 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1168785015 CA392460335 |
333 | E>Q | No |
ClinGen gnomAD |
|
|
rs151215796 CA7551982 |
334 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7551980 rs751306997 |
335 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs531301834 CA7551981 |
335 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs766192756 CA7551979 |
337 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA7551978 rs762663910 |
338 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1380312279 CA392459578 |
338 | S>N | No |
ClinGen gnomAD |
|
|
CA7551778 rs145082626 |
339 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7551777 rs777828804 COSM189949 |
340 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA270261983 rs371981118 |
341 | F>C | No |
ClinGen ESP TOPMed |
|
|
rs905159858 CA270261982 |
341 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1053849441 CA270261984 |
341 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7551776 rs755985230 |
342 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA392459536 rs1596646933 |
344 | I>M | No |
ClinGen Ensembl |
|
|
CA270261980 rs949446992 |
344 | I>T | No |
ClinGen TOPMed |
|
|
CA392459534 rs1423819732 |
345 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA270261979 rs917151734 |
348 | N>K | No |
ClinGen TOPMed |
|
|
rs1305150354 CA392459504 |
349 | N>S | No |
ClinGen Ensembl |
|
|
rs1232184760 CA392459499 |
350 | P>A | No |
ClinGen gnomAD |
|
|
rs1182333224 CA392459487 |
352 | A>T | No |
ClinGen gnomAD |
|
|
CA392459484 rs1234463692 |
352 | A>V | No |
ClinGen TOPMed |
|
|
rs538375897 CA7551773 |
354 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs967531341 CA270261978 |
356 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1321884971 CA392459455 |
357 | I>L | No |
ClinGen gnomAD |
|
|
rs1321884971 CA392459454 |
357 | I>V | No |
ClinGen gnomAD |
|
|
CA392459445 rs1476126706 |
358 | S>C | No |
ClinGen TOPMed |
|
|
CA7551771 rs200397296 |
359 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1222382640 CA392459432 |
360 | E>G | No |
ClinGen gnomAD |
|
|
CA7551770 rs758038600 |
365 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs199971746 CA7551767 |
368 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392459379 rs199971746 |
368 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA392459373 rs1302567894 |
369 | T>I | No |
ClinGen gnomAD |
|
|
CA7551742 rs200898126 |
371 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1596613924 CA392459352 |
371 | S>P | No |
ClinGen Ensembl |
|
|
rs143970875 CA7551740 |
372 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA270261595 COSM1198136 rs967922540 |
373 | Y>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1350378381 CA392459333 |
374 | S>G | No |
ClinGen TOPMed |
|
|
rs759641323 CA7551739 |
374 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA7551738 rs774513018 |
375 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA919549700 rs1567165310 |
375 | S>K | No |
ClinGen Ensembl |
|
|
CA270261594 rs781332253 |
375 | S>N | No |
ClinGen TOPMed |
|
|
rs532275129 CA7551737 |
376 | T>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA392459314 rs1263039869 |
377 | G>R | No |
ClinGen gnomAD |
|
|
CA270261593 rs760190246 |
378 | P>L | No |
ClinGen Ensembl |
|
|
CA392459294 rs1567165203 |
380 | F>I | No |
ClinGen Ensembl |
|
|
CA7551735 rs770858827 |
381 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761817125 CA7551734 |
382 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139377249 CA7551733 |
382 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA392459275 rs1214217788 |
383 | V>F | No |
ClinGen gnomAD |
|
|
CA7551732 rs150895583 |
383 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1214217788 CA392459277 |
383 | V>I | No |
ClinGen gnomAD |
|
|
CA392459272 rs1438888750 |
384 | L>F | No |
ClinGen TOPMed |
|
|
rs768555380 CA270261592 |
386 | N>D | No |
ClinGen gnomAD |
|
|
rs200556221 CA7551730 |
386 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs768555380 CA392459257 |
386 | N>Y | No |
ClinGen gnomAD |
|
|
CA392459239 rs1159992915 |
388 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA392459237 rs1466160135 |
389 | G>R | No |
ClinGen gnomAD |
|
|
CA392459233 rs1360407065 |
389 | G>V | No |
ClinGen gnomAD |
|
|
rs1448536115 CA392459230 |
390 | Q>* | No |
ClinGen gnomAD |
|
|
CA7551727 rs778486123 |
390 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA7551728 rs745451388 |
390 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1596612981 CA392459221 |
391 | S>I | No |
ClinGen Ensembl |
|
|
rs756782281 CA7551726 |
392 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 393 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 394 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 395 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7551723 rs756585144 |
396 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1176407209 CA392459189 |
396 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1489231340 CA392459179 |
397 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA392459174 rs1221260264 |
398 | L>H | No |
ClinGen TOPMed gnomAD |
|
|
CA392459172 rs1221260264 |
398 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA392459176 rs1247692684 |
398 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA392459155 rs1249692295 |
400 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA7551722 rs200160678 |
401 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs371416601 CA7551721 |
402 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1277008272 CA392459125 |
405 | G>R | No |
ClinGen gnomAD |
|
|
rs1230382982 CA392459108 |
407 | S>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 409 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1311678601 CA392459071 |
412 | K>E | No |
ClinGen gnomAD |
|
|
rs751665404 CA7551719 |
414 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA7551717 rs763001854 |
417 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773393896 CA7551716 |
418 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA7551715 rs768743764 CA392459020 |
419 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760640496 CA7551714 |
420 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7551713 rs775438426 |
421 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA392459012 rs1368266782 |
421 | F>L | No |
ClinGen gnomAD |
|
|
CA392459004 rs1426105666 |
422 | Q>* | No |
ClinGen gnomAD |
|
|
rs1248972141 CA392458990 |
424 | P>S | No |
ClinGen gnomAD |
|
|
rs887845099 CA270258070 |
425 | L>P | No |
ClinGen TOPMed |
|
|
rs148287477 CA392457816 |
426 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA270258068 rs79241731 |
426 | P>R | No |
ClinGen Ensembl |
|
|
rs148287477 CA7551701 |
426 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148287477 CA270258069 |
426 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1001343679 CA392457797 |
429 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1001343679 CA270258067 |
429 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1264196330 CA392457791 |
430 | Y>F | No |
ClinGen TOPMed |
|
|
CA7551699 rs371011363 |
431 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200882794 CA7551698 |
431 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA392457780 rs758150135 |
432 | D>G | No |
ClinGen TOPMed |
|
|
CA270258066 rs758150135 |
432 | D>V | No |
ClinGen TOPMed |
|
|
CA392457765 rs1172094569 |
434 | I>M | No |
ClinGen TOPMed |
|
|
CA392457767 rs1596255506 |
434 | I>T | No |
ClinGen Ensembl |
|
|
CA392457770 rs1268293807 |
434 | I>V | No |
ClinGen gnomAD |
|
|
CA392457746 rs1489339237 |
437 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA270258065 COSM1373326 rs142808430 |
437 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP NCI-TCGA |
|
CA7551695 rs775630744 |
438 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs767473202 CA270258064 |
438 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7551693 rs115493412 |
439 | R>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA392457722 rs1221099481 |
441 | F>L | No |
ClinGen gnomAD |
|
|
rs1330200460 CA392457706 |
443 | R>T | No |
ClinGen gnomAD |
|
| TCGA novel | 444 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1388953891 CA392457694 |
445 | Q>K | No |
ClinGen gnomAD |
|
|
CA7551691 rs770523714 |
446 | K>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 448 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 449 | R>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748894215 CA7551690 |
449 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs748894215 CA270258063 |
449 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs958400242 CA270257709 |
451 | L>F | No |
ClinGen TOPMed |
|
|
rs1596215120 CA392457620 |
453 | A>V | No |
ClinGen Ensembl |
|
|
CA392457611 rs769064358 |
455 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA7551663 rs769064358 |
455 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs780285961 CA7551661 |
458 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs145719547 CA7551660 |
461 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA392457561 rs1201626805 |
462 | V>G | No |
ClinGen gnomAD |
|
|
rs1278715716 CA392457564 |
462 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA392457557 rs1339699833 |
463 | K>E | No |
ClinGen gnomAD |
|
|
rs376410087 CA7551659 |
463 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs779324495 CA7551658 |
464 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1479407655 CA392457537 |
465 | D>E | No |
ClinGen TOPMed |
|
|
CA270257707 rs927522531 |
466 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA392457529 rs1447949529 |
467 | E>K | No |
ClinGen gnomAD |
|
|
CA7551657 rs757519767 |
469 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA392457504 rs1336268901 |
470 | L>P | No |
ClinGen gnomAD |
|
|
CA392457493 rs1408055357 |
472 | K>Q | No |
ClinGen gnomAD |
|
|
CA392457490 rs1370229064 |
472 | K>T | No |
ClinGen gnomAD |
|
|
rs1169462058 CA392457484 |
473 | L>V | No |
ClinGen gnomAD |
|
|
rs776016532 CA7551643 |
474 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7551642 rs774318678 |
474 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150753064 CA7551641 |
475 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs373923791 COSM1176705 CA7551639 |
476 | E>K | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1452544931 CA392457143 |
477 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1478419426 CA392457111 |
480 | E>G | No |
ClinGen TOPMed |
|
| rs762888521 | 481 | R>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746272410 CA392457090 |
482 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392457089 rs1227101763 |
482 | E>A | No |
ClinGen gnomAD |
|
|
CA270257383 rs960806833 |
482 | E>D | No |
ClinGen TOPMed |
|
|
CA7551638 rs746272410 |
482 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs958929073 CA270257382 |
483 | C>Y | No |
ClinGen Ensembl |
|
|
CA392457050 rs1169224858 |
485 | A>V | No |
ClinGen TOPMed |
|
|
CA270257381 rs773063173 |
487 | L>V | No |
ClinGen gnomAD |
|
|
rs1365809627 CA392457022 COSM962474 |
488 | S>L | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1435574729 CA392457009 |
489 | S>L | No |
ClinGen gnomAD |
|
|
CA392456986 rs1387757165 |
492 | S>P | No |
ClinGen gnomAD |
|
|
rs184970229 CA7551631 |
493 | S>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs184970229 CA7551632 |
493 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1420319558 CA392456964 |
494 | S>A | No |
ClinGen gnomAD |
|
|
CA7551626 rs927481555 |
495 | P>S | No |
ClinGen TOPMed |
|
|
rs927481555 CA392456955 |
495 | P>T | No |
ClinGen TOPMed |
|
|
rs1478116306 CA392456939 |
496 | S>L | No |
ClinGen gnomAD |
|
|
rs752706367 CA7551625 |
496 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA392456932 rs1208307891 |
497 | S>* | No |
ClinGen gnomAD |
|
|
rs1555435385 CA392456904 |
499 | D>E | No |
ClinGen Ensembl |
|
|
rs758303417 CA7551617 |
500 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs141143208 CA7551618 |
500 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed |
|
|
rs1269291928 CA392456854 |
503 | F>L | No |
ClinGen gnomAD |
|
|
rs1210745812 CA392456847 |
503 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7551616 rs750239325 |
504 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA392456801 rs1220040427 |
506 | E>D | No |
ClinGen gnomAD |
|
|
rs77994602 CA7551615 |
506 | E>Q | No |
ClinGen 1000Genomes ExAC |
|
|
rs367997810 CA392456797 |
507 | E>* | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA270257378 rs367997810 |
507 | E>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA392456772 rs1364422140 |
509 | Y>Q | No |
ClinGen gnomAD |
|
|
rs761376123 CA7551613 |
509 | Y>Y | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q96M60
No GO annotations of cellular component
| Name | Definition |
|---|---|
| No GO annotations for cellular component |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAGQRTCQRR | SSRAGPGKMQ | EPPKSIEEFL | KFQNWDYWPR | EIHFRDDDKW | SCTLKKIKED |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SSFVSIYTHL | WENVPRIFEA | LLIMESKLKE | YSLILQNHTS | EIFKWKSMIS | ETSSYRKLER |
| 130 | 140 | 150 | 160 | 170 | 180 |
| YGEFLKKYHK | KKKIMLSDEM | ETEKNIEGCS | FTGFKANELT | QLPRHLDAEQ | IYLFILKAHN |
| 190 | 200 | 210 | 220 | 230 | 240 |
| FDERVFKIWK | THFLSEASIA | LLHDSFWWWF | LHKFRPDREN | QDCLFDRISE | SYVTLFMSIP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LSRKDAFFQI | YPDCLAQAIY | ATFHEAFPES | SYLFNDEFKE | DLGNNIFLWC | SGLKPQKGFW |
| 310 | 320 | 330 | 340 | 350 | 360 |
| IHWKLKELST | TTIHGSKKAP | AKSVKERIAD | SQEHISTSID | FNIIKILNNP | RAYTLPISKE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ESRLSRLATK | SHYSSTGPEF | NRVLFNFGGQ | SPLILYYLKM | HELAGISKAP | KKTKIKLTKI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| FQEPLPAPTY | RDVIKEAKRQ | FARNQKDFRI | LQAKATKKPH | EVKQDFEKFL | HKLRSEAEIE |
| 490 | 500 | ||||
| RECVASLSSS | SSSSPSSTDN | YNFEEEEY |