Q9Y6X8
PR
Gene name |
ZHX2 (AFR1, KIAA0854, RAF) |
Protein name |
Zinc fingers and homeoboxes protein 2 |
Names |
Alpha-fetoprotein regulator 1, AFP regulator 1, Regulator of AFP, Zinc finger and homeodomain protein 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:22882 |
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
3 structures for Q9Y6X8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2DMP | NMR | - | A | 524-599 | PDB |
| 3NAU | X-ray | 270 A | A/B | 444-501 | PDB |
| AF-Q9Y6X8-F1 | Predicted | AlphaFoldDB |
689 variants for Q9Y6X8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
COSM1330336 CA277655 rs138450443 RCV000201300 |
561 | R>Q | ovary Hirschsprung disease, susceptibility to, 1 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1355045147 CA372094455 |
2 | A>G | No |
ClinGen TOPMed |
|
|
rs1413131915 CA372094473 |
5 | R>* | No |
ClinGen gnomAD |
|
| TCGA novel | 7 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372094486 rs1586417089 |
7 | S>T | No |
ClinGen Ensembl |
|
| TCGA novel | 8 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4862087 rs147897583 |
9 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA372094517 rs1329918197 |
12 | M>V | No |
ClinGen TOPMed |
|
|
CA4862092 rs140571061 |
14 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140571061 CA4862091 |
14 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4862090 rs754555047 |
14 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA372094543 rs1165711718 |
16 | S>* | No |
ClinGen TOPMed |
|
|
rs1412822261 CA372094540 |
16 | S>T | No |
ClinGen gnomAD |
|
|
CA4862094 rs777693238 |
17 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201285505 CA184457256 |
19 | V>A | No |
ClinGen gnomAD |
|
|
CA372094576 rs1459137494 |
21 | Q>R | No |
ClinGen gnomAD |
|
|
rs935655750 CA184457271 |
22 | D>V | No |
ClinGen TOPMed |
|
|
CA4862099 rs146538096 |
25 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1275837535 CA372094621 |
28 | D>H | No |
ClinGen gnomAD |
|
|
CA372094632 rs1484264690 |
29 | R>K | No |
ClinGen gnomAD |
|
|
CA372094668 rs1279518055 |
34 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA4862101 rs763410206 |
34 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA184457322 rs140461950 |
36 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4862102 rs140461950 |
36 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs762386497 CA4862104 |
40 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA372094715 rs375028357 |
42 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1095659 CA4862107 rs375028357 |
42 | V>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1056116205 CA184457364 |
43 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs756523944 CA4862109 |
47 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1051661884 CA184457373 |
47 | W>R | No |
ClinGen Ensembl |
|
|
rs1363959606 CA372094755 |
48 | A>T | No |
ClinGen gnomAD |
|
|
rs1228644150 CA372094762 |
49 | A>T | No |
ClinGen gnomAD |
|
|
rs1299431881 CA372094768 |
50 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs201553642 CA4862110 |
51 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs763829936 CA4862111 |
53 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA372094818 rs1563601024 |
57 | E>A | No |
ClinGen Ensembl |
|
|
CA4862114 rs35460327 |
58 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs373708916 CA372094831 |
59 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4862115 rs373708916 |
59 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs61762976 CA4862116 |
63 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372094866 rs1189439245 |
64 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs780451085 CA4862117 |
66 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA372094878 rs780451085 |
66 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA184457464 rs898524330 |
68 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA4862118 rs749470462 |
69 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA372094920 rs1416134469 |
72 | K>E | No |
ClinGen gnomAD |
|
|
CA4862120 rs774824658 |
73 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA4862121 rs748731407 |
73 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA184457472 rs898509623 |
74 | L>F | No |
ClinGen TOPMed |
|
|
rs1269320427 CA372094941 |
75 | Q>P | No |
ClinGen TOPMed |
|
|
rs1208717289 CA372094947 |
76 | G>R | No |
ClinGen TOPMed |
|
|
CA372094956 rs1034277813 |
77 | G>D | No |
ClinGen gnomAD |
|
|
rs1034277813 CA184457486 |
77 | G>V | No |
ClinGen gnomAD |
|
|
rs1274661722 CA372094958 |
78 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1367107730 CA372094998 |
83 | C>R | No |
ClinGen TOPMed |
|
|
CA372095008 rs1273308504 |
84 | P>H | No |
ClinGen TOPMed |
|
|
rs992676839 CA184457503 |
87 | T>A | No |
ClinGen Ensembl |
|
|
rs756679964 CA4862127 |
87 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA184457521 rs756679964 |
87 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1586417620 CA372095054 |
91 | N>I | No |
ClinGen Ensembl |
|
|
rs771818495 CA184457542 |
92 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
COSM1270923 CA184457547 rs771818495 |
92 | E>Q | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs779918947 CA184457558 |
92 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1156845423 CA372095077 |
95 | E>Q | No |
ClinGen gnomAD |
|
|
CA4862135 rs749560223 |
98 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs146938434 CA4862136 |
99 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 103 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779477001 CA4862137 |
103 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372095142 rs1439130801 |
104 | V>M | No |
ClinGen gnomAD |
|
|
rs747503368 CA4862141 |
109 | L>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs142031452 CA4862143 |
111 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs878941980 CA184457619 |
113 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
COSM150527 CA4862147 rs761541595 |
116 | N>K | stomach [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA4862146 rs773922756 |
116 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs767291079 CA4862148 |
117 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA184457659 rs915746490 |
119 | T>A | No |
ClinGen TOPMed |
|
|
CA184457661 rs940186898 |
119 | T>S | No |
ClinGen Ensembl |
|
|
CA184457680 rs941925935 |
122 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA184457684 rs898550597 |
123 | D>N | No |
ClinGen gnomAD |
|
|
CA4862151 rs766631451 |
124 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA4862158 rs747512803 |
127 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs758713483 CA4862156 |
127 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4862157 rs778179480 |
127 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA4862159 rs771426566 |
129 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA4862160 rs779601120 |
130 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs768110383 CA4862162 |
131 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA372095318 rs1244243423 |
131 | K>R | No |
ClinGen gnomAD |
|
|
CA184457731 rs1047169991 |
133 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs201126119 CA372095341 |
134 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs201126119 CA184457737 |
134 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs376815007 CA4862166 |
135 | G>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4862165 rs771801035 |
135 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372095347 rs1254074495 COSM26949 |
136 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs879208491 CA184457749 |
138 | N>D | No |
ClinGen Ensembl |
|
|
rs760585877 CA4862167 |
138 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA372095380 rs1586417943 |
140 | K>M | No |
ClinGen Ensembl |
|
|
rs146351736 CA4862169 |
146 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4862171 rs199651758 |
146 | R>H | Variant assessed as Somatic; 9.246e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs199651758 CA4862170 |
146 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4862172 rs752912662 |
149 | Q>E | No |
ClinGen ExAC |
|
|
rs758617062 CA4862173 |
150 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199765828 CA184457758 |
150 | T>S | No |
ClinGen Ensembl |
|
| TCGA novel | 151 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757563778 CA4862176 |
153 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1274210016 CA372095483 |
156 | I>V | No |
ClinGen TOPMed |
|
|
rs967639977 CA184457806 |
157 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1385218494 CA372095506 |
159 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1385218494 CA372095507 |
159 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA184457827 rs998675557 |
161 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
CA4862181 rs747820716 |
161 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA372095517 rs998675557 |
161 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA4862182 rs573067676 |
162 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4862184 rs760550541 COSM1270927 |
163 | V>M | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA4862185 rs770810648 |
165 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA372095542 rs1257621427 |
165 | I>N | No |
ClinGen gnomAD |
|
|
rs1187527332 CA372095547 |
166 | T>I | No |
ClinGen gnomAD |
|
|
CA184457861 rs967016907 |
168 | S>T | No |
ClinGen TOPMed |
|
|
CA4862186 rs75046616 |
169 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs372944259 CA4862187 |
170 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1376383870 CA372095573 |
171 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA4862189 rs145158124 |
174 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1254722698 CA372095606 |
176 | D>N | No |
ClinGen TOPMed |
|
|
CA372095608 rs1254722698 |
176 | D>Y | No |
ClinGen TOPMed |
|
|
CA372095617 rs1320058648 |
177 | S>Y | No |
ClinGen gnomAD |
|
|
rs775637656 CA4862190 COSM1700595 |
180 | S>L | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs764393751 CA4862192 |
182 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 184 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751669497 CA4862193 |
184 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs963544511 CA184457882 |
185 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs963544511 CA372095665 |
185 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs757637168 CA4862194 |
186 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1207564841 CA372095682 COSM1725339 |
187 | M>I | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA372095676 rs1463158960 |
187 | M>V | No |
ClinGen gnomAD |
|
|
rs1266157413 CA372095697 |
189 | P>L | No |
ClinGen TOPMed |
|
|
rs1248200584 CA372095694 |
189 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1465995399 CA372095701 |
190 | G>E | No |
ClinGen gnomAD |
|
|
rs767709179 CA184457887 |
191 | K>N | No |
ClinGen Ensembl |
|
|
CA372095714 rs1423470015 |
192 | P>Q | No |
ClinGen gnomAD |
|
|
CA184457892 rs955056286 |
193 | K>R | No |
ClinGen Ensembl |
|
|
CA4862196 rs750966056 |
194 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4862198 rs778342672 |
195 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs575404348 CA4862199 |
195 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs757779343 CA4862200 |
197 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1563601706 CA372095758 |
199 | V>L | No |
ClinGen Ensembl |
|
|
rs377327558 CA372095782 CA184457934 |
202 | K>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs746611861 CA4862202 |
204 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs762630328 CA372095814 |
207 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs762630328 CA184457943 |
207 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA372095811 rs1586418286 |
207 | T>P | No |
ClinGen Ensembl |
|
|
CA372095817 rs770900574 |
208 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA4862203 rs770900574 |
208 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs202189564 CA372095822 |
209 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs202189564 CA4862205 |
209 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA184457963 rs1040201295 |
210 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
CA372095842 rs535549778 |
211 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs578102761 CA4862208 |
212 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs35760254 RCV000956669 CA4862207 |
212 | V>M | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs764044387 CA4862209 |
213 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA4862210 rs774600326 |
215 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4862212 rs767930305 |
216 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4862213 rs750784294 |
217 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs756368144 CA4862214 |
217 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372095872 rs756368144 |
217 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA184458014 rs1046079102 |
219 | V>E | No |
ClinGen Ensembl |
|
|
rs371184369 CA372095908 |
223 | A>G | No |
ClinGen gnomAD |
|
|
CA184458019 rs371184369 |
223 | A>V | No |
ClinGen gnomAD |
|
|
CA4862216 rs754250449 |
224 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA372095924 rs1348515415 |
226 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 226 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4862218 rs757957518 |
226 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4862219 rs529562699 |
227 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4862221 rs756955414 |
228 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA4862224 rs769413931 |
230 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs373301078 CA4862223 |
230 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4862226 CA372095949 rs376446251 |
231 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768832868 CA4862228 |
232 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768832868 CA4862227 |
232 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4862229 rs762092942 |
233 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1586418498 CA372095969 |
234 | L>P | No |
ClinGen Ensembl |
|
|
CA184458083 rs959979909 |
235 | L>F | No |
ClinGen TOPMed |
|
|
CA372096008 rs1424651179 |
240 | G>E | No |
ClinGen gnomAD |
|
|
rs1191062135 COSM1551435 CA372096005 |
240 | G>R | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA372096017 CA184458096 rs772287313 |
241 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3382052 CA4862231 rs773366774 |
242 | V>I | pancreas oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1198503758 CA372096028 |
243 | M>R | No |
ClinGen TOPMed |
|
|
CA372096032 rs1428942557 |
244 | P>T | No |
ClinGen gnomAD |
|
|
rs151010794 CA184458109 |
246 | V>I | No |
ClinGen ESP TOPMed |
|
|
CA4862232 rs373784562 |
248 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4862233 rs376295518 |
250 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372096091 rs1464356007 |
253 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 256 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372096132 rs1201899216 |
259 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 261 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372096146 rs1255039963 |
262 | L>V | No |
ClinGen TOPMed |
|
|
CA372096154 rs1247686827 |
263 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1247686827 CA372096153 |
263 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1295021118 CA372096175 |
266 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 267 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs531676609 CA4862235 |
269 | S>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4862236 rs551485940 |
269 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA372096231 rs1433748252 |
275 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA4862237 rs751107443 |
275 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA184458167 rs1016265305 |
276 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1464768069 CA372096279 |
282 | N>H | No |
ClinGen TOPMed |
|
|
rs1586418684 CA372096312 |
286 | Y>S | No |
ClinGen Ensembl |
|
|
CA372096322 rs1448584670 |
287 | P>L | No |
ClinGen gnomAD |
|
|
CA372096348 rs1586418708 |
291 | E>V | No |
ClinGen Ensembl |
|
|
rs1246111406 CA372096361 |
293 | S>F | No |
ClinGen TOPMed |
|
|
CA184458212 rs754248366 |
300 | K>R | No |
ClinGen gnomAD |
|
|
CA4862243 rs749308933 |
303 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372096442 rs1454180076 |
305 | H>R | No |
ClinGen gnomAD |
|
|
rs372425134 CA4862245 |
307 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1228065457 CA372096490 |
312 | T>A | No |
ClinGen gnomAD |
|
|
rs1271173030 CA372096508 |
314 | R>H | No |
ClinGen gnomAD |
|
|
rs748241948 CA4862246 |
316 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA372096519 rs1563602179 |
316 | K>T | No |
ClinGen Ensembl |
|
|
CA184458228 rs34498734 |
320 | S>N | No |
ClinGen Ensembl |
|
|
CA372096562 rs1586418784 |
322 | S>A | No |
ClinGen Ensembl |
|
|
CA372096593 rs1586418802 |
326 | V>G | No |
ClinGen Ensembl |
|
|
CA372096620 rs1563602214 COSM167647 |
330 | R>Q | large_intestine Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1563602222 CA372096633 |
332 | K>M | No |
ClinGen Ensembl |
|
|
CA372096672 rs1246403381 |
337 | T>I | No |
ClinGen gnomAD |
|
|
CA4862251 rs771374704 |
337 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA372096674 rs1464648959 |
338 | I>V | No |
ClinGen gnomAD |
|
|
CA4862255 rs765841714 |
341 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765841714 CA4862254 |
341 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs116577713 CA4862257 |
342 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4862256 rs116577713 |
342 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs750142621 CA4862258 |
343 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA372096708 rs1156379404 |
344 | T>A | No |
ClinGen gnomAD |
|
|
CA4862263 rs375789703 |
350 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs748039563 CA4862264 |
350 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs777807675 CA372096756 |
352 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs113444944 CA4862268 |
355 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs9649951 CA4862269 VAR_049594 |
357 | V>M | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs557853133 CA4862270 |
358 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 360 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM228498 rs1293436845 CA372096826 |
363 | Q>* | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs369120446 CA4862273 |
364 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772595473 CA4862275 |
365 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs765963053 COSM1095669 CA4862277 |
367 | P>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA4862280 rs764986327 |
369 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs754799547 CA4862279 |
369 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA4862281 rs540773730 |
370 | I>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1586419058 CA372096869 |
370 | I>T | No |
ClinGen Ensembl |
|
|
CA4862282 rs758317833 |
371 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs747061344 CA4862284 |
372 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372096889 rs1284139279 |
373 | Q>H | No |
ClinGen TOPMed |
|
|
CA372096886 rs1372292543 |
373 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs781289060 CA4862286 |
375 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs373199431 CA184458419 |
375 | S>R | No |
ClinGen ESP TOPMed |
|
| TCGA novel | 380 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372096939 rs1563602519 |
382 | T>A | No |
ClinGen Ensembl |
|
|
rs1563602519 CA372096940 |
382 | T>P | No |
ClinGen Ensembl |
|
|
CA372096950 rs775988224 |
383 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201080427 CA4862291 CA4862292 |
384 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372096955 rs1368982253 |
384 | G>V | No |
ClinGen TOPMed |
|
|
rs774866564 CA4862293 |
385 | S>A | No |
ClinGen ExAC |
|
|
CA372096962 rs1208985093 |
386 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA372096964 rs1406044929 |
386 | T>I | No |
ClinGen TOPMed |
|
|
rs370753355 CA372096970 |
387 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370753355 CA4862294 |
387 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4862296 rs142123946 |
388 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 393 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA184458477 rs950539584 |
394 | T>I | No |
ClinGen TOPMed |
|
|
rs1419145126 CA372097019 |
395 | L>P | No |
ClinGen gnomAD |
|
|
COSM749510 CA4862299 rs542948205 |
397 | V>M | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA372097041 rs1472239627 |
399 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs763950182 CA4862301 |
401 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA4862303 rs757310474 |
403 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA4862304 rs781297331 |
404 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA4862305 rs746137414 |
406 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs139674940 CA4862306 |
408 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780360849 CA4862307 |
409 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs142894115 CA4862309 |
410 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs142894115 CA4862310 |
410 | V>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 410 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749687955 CA4862308 |
410 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA372097115 rs1225981243 |
411 | T>S | No |
ClinGen gnomAD |
|
|
CA4862311 rs748658410 |
412 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 413 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs551375058 CA372097143 |
416 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA372097144 rs1563602715 |
416 | P>H | No |
ClinGen Ensembl |
|
|
rs551375058 CA4862312 |
416 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1441350663 CA372097149 |
417 | E>G | No |
ClinGen gnomAD |
|
|
CA4862314 rs759251479 COSM1270924 |
417 | E>K | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs775064410 CA4862316 |
418 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4862317 rs762756401 |
420 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA4862318 rs763906432 COSM1236596 |
420 | R>H | Variant assessed as Somatic; 0.0 impact. autonomic_ganglia [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs763906432 CA4862319 |
420 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4862320 rs761784552 |
421 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1372975686 CA372097172 |
421 | P>S | No |
ClinGen gnomAD |
|
|
rs767563538 CA4862321 |
422 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA372097175 rs1300441204 |
422 | H>Y | No |
ClinGen gnomAD |
|
|
CA184458603 rs146090274 |
423 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139727089 CA4862324 |
423 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4862322 rs146090274 |
423 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145385431 CA184458617 |
424 | A>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs755340704 CA4862326 |
426 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA372097216 rs747936103 |
428 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA372097211 rs1307885974 |
428 | E>Q | No |
ClinGen gnomAD |
|
|
rs1229449329 CA372097226 |
430 | P>S | No |
ClinGen gnomAD |
|
|
CA184458639 rs932492522 |
433 | V>G | No |
ClinGen Ensembl |
|
|
rs376976315 CA4862328 |
434 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4862329 rs370328879 |
435 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1586419491 CA372097257 |
435 | N>T | No |
ClinGen Ensembl |
|
|
CA4862331 rs745393739 |
436 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA372097263 rs1269339335 |
436 | P>H | No |
ClinGen TOPMed |
|
|
CA372097261 rs745393739 |
436 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA372097267 rs1352134387 |
437 | P>A | No |
ClinGen gnomAD |
|
|
CA4862332 rs200614161 |
437 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA372097269 rs200614161 |
437 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200614161 CA4862333 |
437 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs1563602910 | 437 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1429493151 CA372097271 |
438 | L>F | No |
ClinGen gnomAD |
|
|
CA4862336 rs774178938 |
438 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4862337 rs761451956 |
439 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760869582 CA4862340 |
444 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA4862341 rs546766772 |
444 | R>H | Variant assessed as Somatic; 4.627e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA372097316 rs1586419588 |
445 | K>R | No |
ClinGen Ensembl |
|
|
CA372097329 rs1319813451 |
447 | T>A | No |
ClinGen TOPMed |
|
|
CA184458715 rs886271281 |
448 | K>R | No |
ClinGen TOPMed |
|
|
rs755215228 CA4862343 |
451 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4862344 rs779211674 |
453 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA4862347 rs778274286 |
456 | A>G | No |
ClinGen ExAC gnomAD |
|
|
COSM3951259 CA4862346 rs758629841 |
456 | A>S | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 459 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1264417429 CA372097410 |
459 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs747471439 CA4862348 |
460 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372097452 rs1586419665 |
464 | P>L | No |
ClinGen Ensembl |
|
|
rs1486394001 CA372097467 |
466 | D>E | No |
ClinGen gnomAD |
|
|
CA4862350 rs779513082 |
466 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 468 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1265852157 CA372097474 COSM203018 |
468 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs768362732 CA4862352 |
471 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA184458766 rs148698137 |
473 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1200814745 CA372097511 |
473 | I>S | No |
ClinGen gnomAD |
|
|
CA4862354 rs374724083 |
474 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374724083 CA4862355 |
474 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201501365 CA4862356 |
475 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201501365 CA372097522 |
475 | V>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1455132075 CA372097529 |
477 | G>S | No |
ClinGen gnomAD |
|
|
rs1364765326 CA372097559 |
481 | S>N | No |
ClinGen gnomAD |
|
|
CA4862359 rs776848095 |
482 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA184458800 rs75116990 |
489 | D>A | No |
ClinGen Ensembl |
|
|
rs759467471 CA184458814 |
491 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4862361 rs765510576 |
491 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 493 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1095670 CA372097644 rs1563603161 |
493 | R>W | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1586419800 CA372097650 |
494 | C>G | No |
ClinGen Ensembl |
|
|
CA372097651 rs1318402267 |
494 | C>Y | No |
ClinGen gnomAD |
|
|
CA372097668 rs1218973972 |
496 | R>K | No |
ClinGen gnomAD |
|
|
CA372097678 rs1335213379 |
498 | I>V | No |
ClinGen gnomAD |
|
|
rs202088448 CA4862363 |
499 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM203019 rs202088448 CA4862364 |
499 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA184458869 rs1025174237 |
500 | H>R | No |
ClinGen TOPMed |
|
|
rs1271767148 CA372097703 |
502 | T>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs199705429 CA4862368 |
504 | E>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1162975645 CA372097721 |
504 | E>D | No |
ClinGen gnomAD |
|
|
rs200660453 CA4862367 |
504 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs141332175 CA4862370 |
509 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4862371 rs747728729 |
510 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs145188558 CA184458910 |
512 | A>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs371741361 CA4862373 |
513 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372097782 rs770996604 |
514 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4862374 rs747010554 |
514 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4862375 COSM3778866 rs770996604 |
514 | A>V | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA4862377 rs759681757 |
517 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4862378 rs150960774 |
517 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs137944558 CA4862380 COSM1454607 |
519 | G>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1204479952 CA372097811 |
519 | G>V | No |
ClinGen gnomAD |
|
|
CA4862382 rs574179606 |
520 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4862383 COSM1645137 rs757563650 |
520 | R>H | NS [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA4862384 rs768038649 |
521 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA372097820 rs768038649 |
521 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA4862385 rs750857053 |
522 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA4862386 rs754559925 |
523 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs752455007 CA372097838 |
524 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1252989945 CA372097837 |
524 | A>T | No |
ClinGen gnomAD |
|
|
rs752455007 CA4862388 |
524 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1335659043 CA372097845 |
525 | Y>* | No |
ClinGen gnomAD |
|
|
CA184458983 rs943851881 |
525 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA184458985 rs886220432 |
527 | D>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 528 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372097861 rs1383136993 |
528 | F>L | No |
ClinGen gnomAD |
|
|
CA372097865 rs1453796138 |
528 | F>S | No |
ClinGen gnomAD |
|
|
CA372097873 rs1251376212 |
529 | A>V | No |
ClinGen TOPMed |
|
|
rs746812275 CA4862391 |
531 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 531 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1563603385 | 531 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770798644 CA4862392 |
532 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 533 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1008719155 CA184459001 |
534 | K>E | No |
ClinGen TOPMed |
|
|
rs879387452 CA184459004 |
534 | K>N | No |
ClinGen Ensembl |
|
|
CA4862393 rs781220839 |
535 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs113667086 CA4862394 |
539 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 540 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372097978 rs1201911038 |
545 | E>K | No |
ClinGen gnomAD |
|
|
CA372097989 rs1475441739 |
546 | D>G | No |
ClinGen Ensembl |
|
|
CA4862395 rs769962102 |
546 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA372097994 rs1461965201 |
547 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 547 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4862396 CA184459012 rs775415310 |
547 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372098013 rs1174822607 |
549 | L>F | No |
ClinGen gnomAD |
|
|
CA4862397 rs763224734 |
551 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 553 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4862398 rs768867109 |
554 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA184459020 rs267601758 |
554 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA372098050 rs1332365304 |
555 | T>N | No |
ClinGen TOPMed |
|
|
rs767745574 CA4862401 COSM1270925 |
556 | Q>H | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1412242705 CA372098056 |
556 | Q>R | No |
ClinGen gnomAD |
|
|
CA184459033 rs760971942 |
558 | E>K | No |
ClinGen Ensembl |
|
|
CA372098074 rs1466422059 |
559 | L>V | No |
ClinGen gnomAD |
|
|
rs1470724182 CA372098080 |
560 | D>Y | No |
ClinGen gnomAD |
|
|
COSM139774 CA4862402 rs750990904 |
561 | R>W | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1586420292 CA372098105 |
564 | V>G | No |
ClinGen Ensembl |
|
|
CA372098114 rs1364755713 |
565 | E>D | No |
ClinGen gnomAD |
|
|
CA4862403 rs764870587 |
567 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372098125 rs1221727048 |
567 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA4862406 rs757922074 |
569 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4862405 rs757922074 |
569 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752154353 CA4862404 |
569 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4862407 rs751217403 |
570 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA4862408 rs757157511 |
570 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4862409 rs202202495 |
571 | R>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4862410 rs202202495 |
571 | R>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA372098162 rs142958129 |
573 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769612386 CA4862411 |
573 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 574 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4862413 rs749395482 |
574 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA4862414 rs565176383 |
576 | W>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA372098184 rs1383864712 |
577 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1383864712 CA372098186 |
577 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs762004635 CA4862416 |
578 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4862419 rs377449628 |
581 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148330792 CA4862418 |
581 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372098230 COSM203020 rs1346228544 |
584 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs766810365 CA4862420 |
584 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs777228267 CA4862421 |
586 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs762581966 CA4862422 |
587 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1205977006 CA372098250 |
587 | M>L | No |
ClinGen gnomAD |
|
|
rs1286029833 CA372098252 |
587 | M>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA184459119 rs920881662 |
588 | E>K | No |
ClinGen TOPMed |
|
|
rs763665255 CA4862423 |
590 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA372098282 rs1269601107 |
592 | L>V | No |
ClinGen gnomAD |
|
|
rs1481124459 CA372098303 |
595 | M>L | No |
ClinGen gnomAD |
|
|
CA4862424 rs751305348 |
595 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1481124459 CA372098304 |
595 | M>V | No |
ClinGen gnomAD |
|
|
rs767407826 CA4862426 |
596 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756843515 CA4862425 |
596 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA372098326 rs1586420483 |
598 | G>V | No |
ClinGen Ensembl |
|
|
CA372098339 rs1382488405 |
600 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 601 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755877034 CA4862428 |
601 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA372098360 rs1563603692 |
603 | D>G | No |
ClinGen Ensembl |
|
|
rs1303067855 CA372098366 |
604 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs565561893 CA372098379 |
606 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4862429 rs565561893 COSM1454608 |
606 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1326892833 CA372098388 |
608 | N>D | No |
ClinGen gnomAD |
|
|
rs150834154 CA4862430 |
608 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs150834154 CA372098390 |
608 | N>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1239963545 CA372098396 |
609 | G>R | No |
ClinGen gnomAD |
|
|
rs985419988 CA184459150 |
610 | A>S | No |
ClinGen gnomAD |
|
|
rs985419988 CA372098400 |
610 | A>T | No |
ClinGen gnomAD |
|
|
rs778504466 CA4862432 |
613 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs139249386 CA372098418 |
613 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139249386 CA372098417 |
613 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139249386 CA4862433 |
613 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372098419 rs1040124120 |
614 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA184459156 rs1040124120 |
614 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA372098428 rs747355311 |
615 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4862435 rs181151109 |
615 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA184459161 rs181151109 |
615 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1183535670 CA372098432 |
616 | Q>E | No |
ClinGen gnomAD |
|
|
CA184459165 rs943900013 |
616 | Q>H | No |
ClinGen gnomAD |
|
|
rs1249815090 CA372098434 |
616 | Q>R | No |
ClinGen TOPMed |
|
|
CA184459168 rs1044021835 |
617 | L>H | No |
ClinGen TOPMed |
|
|
CA372098438 rs1189205979 |
617 | L>V | No |
ClinGen TOPMed |
|
|
rs760096808 CA4862439 |
618 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4862442 rs147432495 |
619 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4862441 rs147432495 |
619 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs373967421 CA4862443 |
621 | Q>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs750054787 CA4862444 |
622 | L>* | No |
ClinGen ExAC gnomAD |
|
|
CA372098480 rs200270370 |
624 | S>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4862445 rs200270370 |
624 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4862447 rs766144375 |
625 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA4862446 rs766144375 |
625 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA4862449 rs778755083 |
627 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs748191660 CA4862450 |
628 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA184459269 rs150510685 |
630 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA gnomAD |
|
CA4862453 rs370990863 |
632 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4862454 rs771249280 COSM1187609 |
633 | I>T | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1012301267 CA184459307 |
636 | S>C | No |
ClinGen Ensembl |
|
|
CA4862455 rs777122177 |
636 | S>N | No |
ClinGen ExAC |
|
|
CA4862456 rs746440370 |
637 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs201376137 CA4862457 |
640 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA372098584 rs1373065683 |
641 | H>Q | No |
ClinGen gnomAD |
|
|
CA184459332 rs1046655505 |
641 | H>R | No |
ClinGen Ensembl |
|
|
CA4862458 rs776080245 |
641 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA184459342 rs553555577 |
645 | S>I | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA184459336 rs553555577 |
645 | S>N | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA4862460 rs201034843 |
646 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766232776 CA4862463 |
648 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs760366192 CA4862462 |
648 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA184459367 VAR_049595 rs35319449 |
649 | R>K | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs1327000333 CA372098640 |
651 | Q>E | No |
ClinGen gnomAD |
|
|
CA372098649 rs1392158269 |
652 | W>R | No |
ClinGen TOPMed |
|
|
CA184459372 rs867501913 |
653 | P>L | No |
ClinGen Ensembl |
|
|
CA4862466 rs765182938 |
654 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA4862465 rs139727759 |
654 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372098700 rs551039119 |
659 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA372098695 rs200753877 |
659 | D>H | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
COSM1755545 CA184459398 rs200753877 |
659 | D>N | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes NCI-TCGA TOPMed gnomAD |
|
CA4862467 rs536405447 |
660 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs777886291 CA4862469 |
662 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1429585551 CA372098719 |
662 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA372098724 rs1427214905 |
663 | A>D | No |
ClinGen gnomAD |
|
|
rs1480151680 CA372098728 |
664 | K>E | No |
ClinGen gnomAD |
|
|
rs1256349442 CA372098731 |
664 | K>T | No |
ClinGen TOPMed |
|
|
rs781493386 CA4862472 |
669 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA4862473 rs200646419 |
669 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199503659 CA4862474 |
673 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4862476 rs749783061 |
674 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771543770 CA4862477 |
680 | R>I | No |
ClinGen ExAC gnomAD |
|
|
CA4862479 rs367798040 |
684 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA184459497 rs139442320 |
685 | T>M | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1314805669 CA372098874 |
686 | G>E | No |
ClinGen gnomAD |
|
|
CA372098886 rs1486403689 |
688 | V>A | No |
ClinGen gnomAD |
|
|
CA4862482 rs144984915 |
688 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1219341645 CA372098899 |
690 | W>* | No |
ClinGen gnomAD |
|
|
rs1267459477 CA372098911 |
691 | M>I | No |
ClinGen gnomAD |
|
|
CA184459524 rs931788555 |
694 | Y>N | No |
ClinGen TOPMed gnomAD |
|
|
CA372098944 rs1417510358 |
695 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA372098947 rs764146827 |
696 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764146827 CA4862486 |
696 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371624131 CA4862485 |
696 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372098962 rs757344942 |
698 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757344942 CA4862488 |
698 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1416943168 CA372098968 |
699 | M>T | No |
ClinGen TOPMed |
|
|
rs1364934890 CA372098965 |
699 | M>V | No |
ClinGen gnomAD |
|
|
CA4862489 rs781585047 |
700 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs541431529 CA184459566 |
701 | D>N | No |
ClinGen 1000Genomes TOPMed |
|
|
rs201478824 CA4862490 |
701 | D>V | No |
ClinGen 1000Genomes ExAC |
|
|
CA4862492 rs530222617 |
704 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4862493 rs749830765 |
705 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs779230167 CA4862495 |
706 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs746545470 CA4862496 |
707 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA4862500 rs769634465 |
708 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs780778395 CA4862499 |
708 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1231869626 CA372099038 |
710 | R>K | No |
ClinGen TOPMed |
|
|
rs201952083 CA184459619 |
711 | K>Q | No |
ClinGen Ensembl |
|
|
rs74549937 CA4862503 |
715 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4862505 rs762012515 |
716 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4862504 rs774103891 |
716 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 716 | M>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1352191399 CA372099088 |
718 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA372099092 rs1440921126 |
718 | E>D | No |
ClinGen gnomAD |
|
|
CA372099086 rs1352191399 |
718 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA4862507 rs750734902 |
719 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1378710261 CA372099097 |
719 | S>T | No |
ClinGen gnomAD |
|
|
rs756403931 CA4862508 |
723 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754243702 CA4862510 |
724 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372099129 rs766449810 |
724 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA4862509 rs766449810 |
724 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs754243702 CA372099131 |
724 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372099132 rs1229326944 COSM1236370 |
725 | D>N | autonomic_ganglia [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA4862512 rs779507897 |
726 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372099140 rs1305826807 |
726 | V>M | No |
ClinGen gnomAD |
|
|
CA184459714 rs190859288 |
729 | Q>H | No |
ClinGen 1000Genomes |
|
|
rs1198993587 CA372099167 |
730 | Y>C | No |
ClinGen TOPMed |
|
|
CA184459718 rs772789573 |
730 | Y>H | No |
ClinGen Ensembl |
|
| TCGA novel | 731 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 731 | Y>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745585522 CA4862516 |
732 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372099190 rs1586421327 |
733 | D>G | No |
ClinGen Ensembl |
|
|
rs1002045591 CA184459761 |
734 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA4862517 rs769491055 |
734 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA184459767 rs372010119 |
735 | K>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA4862518 rs774942927 |
735 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372099211 rs1417362628 COSM174909 |
736 | K>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA4862520 rs376664586 |
739 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761830739 CA4862522 |
743 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA4862521 rs571539675 |
743 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA184459795 rs571539675 |
743 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1335679051 CA372099263 |
744 | K>E | No |
ClinGen gnomAD |
|
|
CA4862523 rs767775136 |
744 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA184459802 rs1046445094 |
745 | L>V | No |
ClinGen gnomAD |
|
|
rs147430109 CA184459809 |
746 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs147430109 CA4862524 |
746 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1360536437 CA372099283 |
747 | T>I | No |
ClinGen gnomAD |
|
|
rs1278868301 CA372099284 |
748 | R>G | No |
ClinGen gnomAD |
|
|
rs766647060 CA4862526 |
748 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA372099293 rs1586421439 |
749 | V>E | No |
ClinGen Ensembl |
|
|
CA372099290 rs1201928520 |
749 | V>L | No |
ClinGen gnomAD |
|
|
rs753967807 CA4862527 |
750 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1212030701 CA372099305 |
751 | V>I | No |
ClinGen gnomAD |
|
|
CA4862528 rs369846197 |
753 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145190965 CA4862529 |
753 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA372099321 rs983699068 |
754 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs983699068 CA184459829 |
754 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA4862533 rs745391684 |
757 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA4862534 rs755527113 |
759 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs779784472 CA4862535 |
759 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs894002825 CA184459851 |
760 | L>F | No |
ClinGen gnomAD |
|
|
CA4862536 rs748858018 |
761 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4862537 rs768556685 |
762 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372099384 rs1343824089 |
763 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA372099389 rs1192359138 |
764 | P>L | No |
ClinGen TOPMed |
|
|
rs1453339360 CA372099387 |
764 | P>S | No |
ClinGen TOPMed |
|
|
rs1466504396 CA372099402 |
766 | E>G | No |
ClinGen TOPMed |
|
|
rs781325520 CA184459906 |
767 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA4862540 RCV000883272 rs141390481 |
768 | T>A | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA372099410 rs141390481 |
768 | T>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA184459915 rs555363291 |
770 | D>G | No |
ClinGen Ensembl |
|
| TCGA novel | 770 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA184459918 rs374001930 |
771 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4862543 rs201110609 |
771 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1095675 CA4862542 rs201110609 |
771 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs374001930 CA4862541 |
771 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1281813954 CA372099434 |
772 | S>L | No |
ClinGen gnomAD |
|
|
CA4862547 rs566974360 |
773 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs776963151 CA4862545 |
773 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs866819801 CA184459951 |
774 | G>D | No |
ClinGen TOPMed |
|
|
rs1265324526 CA372099451 |
775 | S>T | No |
ClinGen gnomAD |
|
| TCGA novel | 776 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4862548 rs561724501 |
776 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA4862549 rs763245137 |
776 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs150252730 CA372099462 |
777 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs150252730 CA4862550 |
777 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs745772795 COSM1095676 CA184459981 |
777 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA4862551 rs556325951 |
778 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA372099467 rs1419551795 |
778 | D>V | No |
ClinGen gnomAD |
|
|
CA184460013 rs3802264 |
779 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs3802264 VAR_049596 CA4862553 |
779 | G>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs753596636 CA4862554 |
781 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA184460032 rs979158978 |
782 | S>G | No |
ClinGen TOPMed |
|
|
CA372099491 rs1438795274 |
782 | S>N | No |
ClinGen gnomAD |
|
|
CA372099492 rs754593942 |
782 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368973670 CA4862558 |
783 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4862557 rs368973670 |
783 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA372099506 rs1357143318 |
784 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs777898860 CA4862560 |
784 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs950076378 CA184460058 |
786 | E>G | No |
ClinGen TOPMed |
|
|
CA372099515 rs1278235645 |
786 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA4862562 rs558951283 |
787 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4862564 rs776567312 COSM1700596 |
788 | S>L | Variant assessed as Somatic; 0.0004159 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA372099539 rs1159669418 |
789 | S>N | No |
ClinGen gnomAD |
|
|
rs200959981 CA184460070 |
789 | S>R | No |
ClinGen gnomAD |
|
|
COSM203022 CA4862566 rs148101741 |
790 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs373507471 CA372099566 |
793 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368779118 COSM403047 CA4862569 |
794 | V>L | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs368779118 CA4862570 |
794 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4862574 rs753305049 |
797 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372099591 rs1380322503 |
798 | V>I | No |
ClinGen gnomAD |
|
|
rs752370410 CA4862577 |
799 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA4862578 rs758320540 |
801 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs777700550 CA4862579 |
803 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA184460140 rs575236773 |
804 | I>F | No |
ClinGen gnomAD |
|
|
rs139793225 COSM1635628 CA4862582 |
806 | D>G | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA4862583 rs745952743 |
807 | R>G | No |
ClinGen ExAC |
|
|
rs1384646379 CA372099672 |
810 | S>N | No |
ClinGen gnomAD |
|
|
rs1184355324 CA372099675 |
810 | S>R | No |
ClinGen TOPMed |
|
|
CA372099683 rs1481033187 |
811 | W>* | No |
ClinGen TOPMed |
|
|
rs1369602118 COSM1095677 CA372099688 |
812 | S>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA372099693 rs1250669340 |
812 | S>R | No |
ClinGen TOPMed |
|
|
CA184460153 rs981874114 |
813 | Q>R | No |
ClinGen Ensembl |
|
|
CA4862585 rs775729112 |
815 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA4862587 rs562650730 |
816 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4862588 rs145283871 |
819 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4862590 rs767932096 |
820 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1225190461 CA372099754 |
823 | A>T | No |
ClinGen gnomAD |
|
|
rs752458345 CA4862594 |
824 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA4862593 rs150570834 |
824 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1200139027 CA372099776 |
826 | D>G | No |
ClinGen gnomAD |
|
|
CA4862596 rs763769495 |
827 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs758122080 CA4862595 |
827 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA372099789 rs745786550 |
828 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs757024481 CA372099784 |
828 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757024481 CA4862598 |
828 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757024481 CA4862599 |
828 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA372099798 rs1422922020 |
830 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs780091873 CA4862602 |
831 | P>H | No |
ClinGen ExAC TOPMed |
|
|
CA372099807 rs780091873 |
831 | P>L | No |
ClinGen ExAC TOPMed |
|
|
CA184460235 rs773872707 |
832 | A>E | No |
ClinGen Ensembl |
|
|
CA372099827 rs1173072552 |
834 | A>V | No |
ClinGen gnomAD |
|
|
rs576276134 CA184460249 |
835 | G>A | No |
ClinGen 1000Genomes |
|
| TCGA novel | 836 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA372099841 rs1461254997 |
837 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 838 | A>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with Q9Y6X8
7 regional properties for Q9Y6X8
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Homeobox domain | 263 - 324 | IPR001356-1 |
| domain | Homeobox domain | 439 - 501 | IPR001356-2 |
| domain | Homeobox domain | 530 - 591 | IPR001356-3 |
| domain | Homeobox domain | 628 - 690 | IPR001356-4 |
| domain | Zinc finger C2H2-type | 78 - 101 | IPR013087-1 |
| domain | Zinc finger C2H2-type | 110 - 138 | IPR013087-2 |
| domain | ZHX, C2H2 finger domain | 107 - 157 | IPR041057 |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatin | The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| DNA-binding transcription factor activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II. |
| identical protein binding | Binding to an identical protein or proteins. |
| metal ion binding | Binding to a metal ion. |
| protein heterodimerization activity | Binding to a nonidentical protein to form a heterodimer. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| mRNA catabolic process | The chemical reactions and pathways resulting in the breakdown of mRNA, messenger RNA, which is responsible for carrying the coded genetic 'message', transcribed from DNA, to sites of protein assembly at the ribosomes. |
| negative regulation of DNA-templated transcription | Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription. |
| negative regulation of neuron differentiation | Any process that stops, prevents, or reduces the frequency, rate or extent of neuron differentiation. |
| negative regulation of transcription by RNA polymerase II | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| retinal bipolar neuron differentiation | The process in which a relatively unspecialized cell acquires specialized features of a bipolar cell, the last neuron to be generated in the retina. |
| somatic stem cell population maintenance | Any process by which an organism retains a population of somatic stem cells, undifferentiated cells in the embryo or adult which can undergo unlimited division and give rise to cell types of the body other than those of the germ-line. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9UKY1 | ZHX1 | Zinc fingers and homeoboxes protein 1 | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MASKRKSTTP | CMVRTSQVVE | QDVPEEVDRA | KEKGIGTPQP | DVAKDSWAAE | LENSSKENEV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| IEVKSMGESQ | SKKLQGGYEC | KYCPYSTQNL | NEFTEHVDMQ | HPNVILNPLY | VCAECNFTTK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KYDSLSDHNS | KFHPGEANFK | LKLIKRNNQT | VLEQSIETTN | HVVSITTSGP | GTGDSDSGIS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VSKTPIMKPG | KPKADAKKVP | KKPEEITPEN | HVEGTARLVT | DTAEILSRLG | GVELLQDTLG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| HVMPSVQLPP | NINLVPKVPV | PLNTTKYNSA | LDTNATMINS | FNKFPYPTQA | ELSWLTAASK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| HPEEHIRIWF | ATQRLKHGIS | WSPEEVEEAR | KKMFNGTIQS | VPPTITVLPA | QLAPTKVTQP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ILQTALPCQI | LGQTSLVLTQ | VTSGSTTVSC | SPITLAVAGV | TNHGQKRPLV | TPQAAPEPKR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| PHIAQVPEPP | PKVANPPLTP | ASDRKKTKEQ | IAHLKASFLQ | SQFPDDAEVY | RLIEVTGLAR |
| 490 | 500 | 510 | 520 | 530 | 540 |
| SEIKKWFSDH | RYRCQRGIVH | ITSESLAKDQ | LAIAASRHGR | TYHAYPDFAP | QKFKEKTQGQ |
| 550 | 560 | 570 | 580 | 590 | 600 |
| VKILEDSFLK | SSFPTQAELD | RLRVETKLSR | REIDSWFSER | RKLRDSMEQA | VLDSMGSGKK |
| 610 | 620 | 630 | 640 | 650 | 660 |
| GQDVGAPNGA | LSRLDQLSGA | QLTSSLPSPS | PAIAKSQEQV | HLLRSTFART | QWPTPQEYDQ |
| 670 | 680 | 690 | 700 | 710 | 720 |
| LAAKTGLVRT | EIVRWFKENR | CLLKTGTVKW | MEQYQHQPMA | DDHGYDAVAR | KATKPMAESP |
| 730 | 740 | 750 | 760 | 770 | 780 |
| KNGGDVVPQY | YKDPKKLCEE | DLEKLVTRVK | VGSEPAKDCL | PAKPSEATSD | RSEGSSRDGQ |
| 790 | 800 | 810 | 820 | 830 | |
| GSDENEESSV | VDYVEVTVGE | EDAISDRSDS | WSQAAAEGVS | ELAESDSDCV | PAEAGQA |