Q8NHU6
PR
Gene name |
TDRD7 (PCTAIRE2BP) |
Protein name |
Tudor domain-containing protein 7 |
Names |
PCTAIRE2-binding protein, Tudor repeat associator with PCTAIRE-2, Trap |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:23424 |
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
2 structures for Q8NHU6
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3RCO | X-ray | 180 A | A/B | 1-82 | PDB |
| AF-Q8NHU6-F1 | Predicted | AlphaFoldDB |
792 variants for Q8NHU6
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000648858 CA5146367 rs144477083 |
63 | E>D | Cataract 36 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001165934 rs148039648 CA5146370 |
67 | S>P | Cataract 36 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5146395 rs769552442 RCV001165936 |
75 | M>V | Cataract 36 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs200783564 CA5146409 RCV001039697 |
99 | R>C | Cataract 36 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000656385 rs1554743428 |
110 | T>missing | Cataract 36 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000351547 rs200841827 CA5146438 |
131 | N>D | Cataract 36 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA374171552 rs1317477843 RCV001167511 |
139 | N>S | Cataract 36 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA5146448 RCV000402558 RCV000253314 rs2045732 VAR_019070 RCV000839973 |
150 | V>A | Cataract 36 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs200603850 CA5146491 RCV001168128 |
202 | H>R | Cataract 36 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001168129 rs139706467 RCV001093089 CA5146492 |
208 | T>A | Cataract 36 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000656384 CA658822910 rs1554744860 |
230 | Y>* | Cataract 36 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs758372213 CA5146523 RCV000303453 |
234 | M>V | Cataract 36 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5146529 rs199787418 RCV000358350 |
240 | R>C | Variant assessed as Somatic; 0.0 impact. Cataract 36 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA dbSNP gnomAD |
|
rs1036293350 CA196709513 RCV001168131 |
242 | K>R | Cataract 36 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000268298 CA10627766 rs201246147 |
280 | W>R | Cataract 36 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs141457141 CA5146547 RCV000304503 |
285 | T>M | Cataract 36 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs765628635 RCV000488876 |
377 | A>missing | Cataract 36 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5146624 RCV002562621 rs112811088 RCV001227351 |
421 | H>N | Inborn genetic diseases Cataract 36 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001338469 rs766673237 CA5146627 |
426 | I>V | Cataract 36 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs886063213 RCV000269422 CA10634622 |
482 | Y>C | Cataract 36 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA5146690 RCV002523707 RCV000329134 rs374337717 |
528 | A>V | Inborn genetic diseases Cataract 36 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5146714 rs148718632 RCV001165993 |
565 | P>L | Cataract 36 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1828932238 RCV001227352 |
587 | D>G | Cataract 36 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001165994 rs1169706990 CA374170159 |
607 | E>D | Cataract 36 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs750207077 VAR_065247 |
618 | V>missing | CTRCT36 [UniProt] | Yes |
UniProt dbSNP |
|
rs750207077 VAR_065247 |
618 | V>del | CTRCT36 [UniProt] | Yes |
UniProt dbSNP |
|
rs376812712 CA5146765 RCV001165995 |
631 | N>S | Cataract 36 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000316058 RCV002523708 rs140111735 CA5146809 |
680 | S>I | Inborn genetic diseases Cataract 36 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000552452 CA5146839 rs946019953 |
702 | S>T | Cataract 36 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs201436824 CA5146873 RCV001167562 |
753 | I>V | Cataract 36 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs183885850 RCV001167563 CA5146877 |
756 | R>Q | Cataract 36 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs746282969 RCV001167564 CA5146881 COSM3703457 |
762 | I>T | liver Cataract 36 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
rs1829105037 RCV001168197 |
794 | S>Y | Cataract 36 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs747436777 CA5146920 RCV000375424 |
797 | N>S | Cataract 36 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM1103014 RCV000280951 rs140697341 CA5146953 |
830 | R>C | endometrium Cataract 36 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000865508 RCV002536276 rs78820996 CA5146954 |
830 | R>H | Cataract 36 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000340102 rs886063214 CA10634625 |
831 | S>G | Cataract 36 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA374179297 rs1274740363 RCV001333039 |
842 | W>R | Cataract 36 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA374179416 rs1477743112 RCV000985207 |
847 | D>N | Cataract 36 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA5146981 RCV001168198 rs757817371 |
869 | M>V | Cataract 36 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000407336 CA5146993 rs149536158 |
889 | M>V | Cataract 36 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000341691 rs146083361 CA5147012 |
931 | P>S | Cataract 36 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001231000 CA5147044 rs763792246 |
981 | I>V | Cataract 36 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs202206922 CA5147057 RCV000533143 |
1002 | I>V | Cataract 36 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001168950 rs758400042 COSM1103016 CA5147066 |
1013 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium Cataract 36 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000306641 CA10630690 rs371279564 |
1043 | H>Q | Cataract 36 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1440467520 CA374165666 |
4 | G>R | No |
ClinGen gnomAD |
|
|
rs1176934871 CA374165828 |
10 | M>I | No |
ClinGen TOPMed |
|
|
CA374165842 rs1587860673 |
11 | L>I | No |
ClinGen Ensembl |
|
|
rs781440085 CA5146345 |
12 | R>* | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs748318899 COSM1103000 CA5146346 |
12 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1458546083 CA374165913 |
13 | A>G | No |
ClinGen gnomAD |
|
| TCGA novel | 17 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374166036 rs921476095 |
18 | H>L | No |
ClinGen gnomAD |
|
|
CA196703431 rs921476095 |
18 | H>R | No |
ClinGen gnomAD |
|
|
CA5146348 rs773704794 |
18 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA5146350 rs771450131 |
22 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA196703445 rs111597752 |
23 | A>P | No |
ClinGen Ensembl |
|
|
CA5146352 rs760124806 |
26 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1490746215 CA374166282 |
26 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1306056012 CA374166328 |
28 | Q>E | No |
ClinGen TOPMed |
|
|
rs578081220 CA5146353 |
28 | Q>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1422257319 CA374166479 |
34 | L>F | No |
ClinGen gnomAD |
|
|
CA5146355 rs760255239 |
37 | D>G | No |
ClinGen ExAC gnomAD |
|
|
COSM78623 CA374166521 rs1408623207 |
37 | D>H | ovary [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA374166522 rs1408623207 |
37 | D>Y | No |
ClinGen gnomAD |
|
|
rs763805432 CA5146356 |
39 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs138368949 CA196703499 |
40 | P>H | No |
ClinGen ESP TOPMed |
|
|
rs1564195148 CA374166748 |
43 | Q>H | No |
ClinGen Ensembl |
|
|
CA374166766 rs1564195151 |
44 | L>P | No |
ClinGen Ensembl |
|
|
rs757041699 CA5146358 |
47 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1363847254 CA374166920 |
48 | T>I | No |
ClinGen gnomAD |
|
|
CA5146361 rs758366279 |
49 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1437147437 CA374167045 |
52 | Y>C | No |
ClinGen TOPMed |
|
|
rs781350394 CA5146362 |
53 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs748302279 TCGA novel CA5146363 |
57 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC gnomAD |
|
CA374167178 rs1401588622 |
58 | A>P | No |
ClinGen TOPMed |
|
|
CA374167256 rs1219808074 |
60 | V>I | No |
ClinGen gnomAD |
|
|
CA196703529 rs888437246 |
61 | R>K | No |
ClinGen TOPMed |
|
|
rs749637344 CA5146366 |
62 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5146365 rs778192368 |
62 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1258289210 CA374167383 |
64 | T>S | No |
ClinGen TOPMed |
|
|
CA5146368 rs774805302 |
65 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA374167405 rs1244375496 |
65 | S>R | No |
ClinGen gnomAD |
|
|
rs1037050997 CA196703534 |
66 | R>G | No |
ClinGen TOPMed |
|
|
CA5146369 rs538646618 |
66 | R>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5146371 rs774978489 |
69 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1450972587 CA374169359 |
71 | T>N | No |
ClinGen TOPMed |
|
|
CA5146394 rs761300792 |
73 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1190171871 CA374169532 |
78 | T>P | No |
ClinGen TOPMed |
|
|
rs762887445 CA5146397 |
79 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374169588 rs1438682744 |
80 | T>A | No |
ClinGen gnomAD |
|
|
CA196704857 rs369405181 |
81 | A>T | No |
ClinGen Ensembl |
|
|
rs766876975 CA196704858 |
82 | R>G | No |
ClinGen Ensembl |
|
|
rs766391067 CA5146398 |
83 | I>V | No |
ClinGen ExAC |
|
|
CA5146399 rs751505760 |
86 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA374169724 rs1472335876 |
87 | V>M | No |
ClinGen gnomAD |
|
|
rs759572823 COSM277640 CA5146400 |
89 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed |
|
CA5146402 rs201781290 |
89 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201781290 COSM4163146 CA5146401 |
89 | R>P | thyroid [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs779255412 CA5146405 |
90 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA5146406 rs750734034 |
91 | R>K | No |
ClinGen ExAC |
|
|
CA196704912 rs916500298 |
92 | S>R | No |
ClinGen Ensembl |
|
|
rs969236199 CA196704917 |
95 | R>K | No |
ClinGen Ensembl |
|
|
CA196704920 rs868212153 |
97 | T>N | No |
ClinGen Ensembl |
|
|
rs780415632 CA5146408 |
98 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs570001949 CA5146410 |
99 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 107 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5146414 rs772959333 |
110 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374170285 rs1368374516 |
111 | M>T | No |
ClinGen TOPMed |
|
| rs1295303043 | 115 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374170446 rs1369825755 |
117 | G>R | No |
ClinGen TOPMed |
|
|
CA374171002 rs1389320546 |
120 | K>R | No |
ClinGen gnomAD |
|
|
CA196705551 rs938604112 |
122 | T>A | No |
ClinGen TOPMed |
|
|
CA374171082 rs938604112 |
122 | T>P | No |
ClinGen TOPMed |
|
|
CA374171175 rs1445010386 |
125 | Q>R | No |
ClinGen gnomAD |
|
|
CA5146437 rs745719576 |
126 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1347736828 CA374171219 |
127 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA374171254 rs1483931676 |
127 | G>V | No |
ClinGen gnomAD |
|
|
rs1457009230 CA374171315 |
129 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA374171314 rs1457009230 |
129 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA196705561 rs772973624 |
133 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA374171455 rs775539832 |
134 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs775539832 CA5146439 |
134 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA196705566 rs185257813 |
135 | G>S | No |
ClinGen 1000Genomes |
|
| TCGA novel | 137 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374171542 rs1247144734 |
138 | P>L | No |
ClinGen gnomAD |
|
|
rs765300189 CA374171538 |
138 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM1553288 rs765300189 CA5146441 |
138 | P>T | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA5146442 rs773280636 |
140 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA374171585 rs1244271676 |
141 | A>G | No |
ClinGen gnomAD |
|
|
CA5146443 rs200017470 |
142 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs988063065 CA196705616 |
144 | R>G | No |
ClinGen gnomAD |
|
|
CA5146445 rs749029715 |
145 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA5146446 rs139696600 |
146 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1006256834 CA196705633 |
148 | N>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 149 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs2045732 CA374171790 |
150 | V>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs2045732 CA374171791 |
150 | V>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 151 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756592981 CA5146449 |
153 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs777352346 CA5146450 |
154 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1365037397 CA374171957 |
157 | E>A | No |
ClinGen gnomAD |
|
|
CA374171959 rs1455185003 |
157 | E>D | No |
ClinGen gnomAD |
|
|
rs202022068 CA5146451 |
158 | M>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1030925586 CA196705678 |
161 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs201020138 CA5146453 |
162 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA374172099 rs1170729317 |
166 | T>A | No |
ClinGen TOPMed |
|
|
rs1429859857 CA374172133 |
168 | G>R | No |
ClinGen TOPMed |
|
|
CA5146454 rs745629793 |
169 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 169 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775157629 CA5146456 |
173 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5146458 rs768538815 |
175 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746894291 CA5146457 |
175 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1225273664 CA374172317 |
176 | P>Q | No |
ClinGen TOPMed |
|
|
CA374172326 rs1587862963 |
177 | V>L | No |
ClinGen Ensembl |
|
|
CA5146459 rs139675554 |
179 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA196705714 rs376237605 |
180 | H>R | No |
ClinGen ESP gnomAD |
|
|
rs763069572 CA5146460 |
181 | V>A | No |
ClinGen ExAC |
|
|
rs1482767792 CA374172503 |
183 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA374172499 rs1235536981 |
183 | M>R | No |
ClinGen gnomAD |
|
|
CA374172500 rs1235536981 |
183 | M>T | No |
ClinGen gnomAD |
|
|
CA5146462 rs563791951 |
185 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1471346110 CA374172618 |
187 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA5146463 rs759702513 |
187 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1391287995 CA374175088 |
188 | R>S | No |
ClinGen gnomAD |
|
|
CA5146482 rs748113269 |
192 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 193 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1554744557 CA374175253 |
193 | A>T | No |
ClinGen Ensembl |
|
|
rs770950535 CA5146483 |
193 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5146485 rs534534294 |
194 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs534534294 CA196708587 |
194 | S>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs981950649 CA196708605 |
196 | Q>P | No |
ClinGen gnomAD |
|
|
CA196708614 rs959274596 |
198 | P>L | No |
ClinGen TOPMed |
|
|
CA374175410 rs1215036237 |
198 | P>S | No |
ClinGen gnomAD |
|
|
rs1339727470 CA374175477 |
200 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 201 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1159613238 CA374175583 |
203 | L>P | No |
ClinGen TOPMed |
|
|
CA374175770 rs1298509646 |
208 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1490710520 CA374175892 |
212 | S>I | No |
ClinGen gnomAD |
|
|
rs1218699485 CA374175900 |
213 | D>N | No |
ClinGen gnomAD |
|
|
CA196709436 rs941943951 |
214 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA374176134 rs941943951 |
214 | N>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs749923554 CA5146513 |
215 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA5146512 rs765898631 |
215 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA5146514 rs762408681 |
219 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1386319687 CA374176177 |
220 | E>A | No |
ClinGen gnomAD |
|
|
CA196709444 CA196709447 rs200972041 |
221 | K>N | No |
ClinGen TOPMed |
|
|
CA374176197 rs754640304 |
223 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA5146517 rs754640304 |
223 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 224 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767234996 CA5146518 |
225 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA196709468 rs993531555 |
226 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA374176232 rs1445367916 |
227 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs752555849 CA5146519 |
228 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1027320837 CA196709481 COSM1739604 |
229 | S>P | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1188631836 CA374176276 |
230 | Y>F | No |
ClinGen gnomAD |
|
|
rs1221757829 CA374176266 |
230 | Y>H | No |
ClinGen TOPMed |
|
|
CA5146520 rs756033246 |
231 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA196709485 rs756033246 |
231 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs777624114 CA5146521 |
232 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1257305014 CA374176342 |
233 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs780208548 CA5146524 |
234 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA196709503 rs985824940 |
236 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA5146526 rs368672266 |
236 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5146527 rs777118214 |
239 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1404173788 CA374176546 COSM1464305 |
240 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs773551903 CA5146530 |
241 | I>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 244 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763537137 CA5146531 |
244 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1372824675 CA374176663 |
246 | N>S | No |
ClinGen gnomAD |
|
|
CA5146533 rs773918141 |
250 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA374176865 rs1228389922 |
256 | K>T | No |
ClinGen gnomAD |
|
|
CA5146534 rs759186158 |
257 | L>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA196709529 rs975893733 |
259 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs557863949 CA5146536 |
260 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1301991483 CA374176957 |
262 | K>R | No |
ClinGen TOPMed |
|
|
CA5146537 rs755947236 |
263 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755147837 CA5146538 |
265 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753672272 CA5146539 |
266 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1372857536 CA374177041 |
268 | D>E | No |
ClinGen TOPMed |
|
|
CA374177037 rs1460837063 |
268 | D>Y | No |
ClinGen TOPMed |
|
|
rs201671742 CA5146540 |
269 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs779989656 CA5146541 |
270 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1200132071 CA374177051 |
270 | N>S | No |
ClinGen gnomAD |
|
|
rs1396884692 CA374177122 |
279 | H>Q | No |
ClinGen gnomAD |
|
|
CA374177119 rs1171817707 |
279 | H>R | No |
ClinGen gnomAD |
|
|
CA374177133 rs1321238723 |
281 | P>S | No |
ClinGen gnomAD |
|
|
rs1294802689 CA374160144 |
286 | V>M | No |
ClinGen gnomAD |
|
|
CA374160152 rs1395121995 |
287 | E>K | No |
ClinGen TOPMed |
|
|
rs1164181417 CA374160167 |
289 | P>A | No |
ClinGen TOPMed |
|
|
CA374160171 rs1323472138 |
289 | P>L | No |
ClinGen gnomAD |
|
|
CA374160176 rs1231043349 |
290 | C>F | No |
ClinGen gnomAD |
|
|
rs1366448203 CA374160173 |
290 | C>R | No |
ClinGen gnomAD |
|
|
rs1295732777 CA374160184 |
291 | S>T | No |
ClinGen gnomAD |
|
|
rs763741308 CA5146560 |
296 | L>* | No |
ClinGen ExAC |
|
|
CA196701882 rs953864362 |
301 | A>T | No |
ClinGen gnomAD |
|
|
rs1354327433 CA374160252 |
301 | A>V | No |
ClinGen gnomAD |
|
|
CA374160255 rs1564205878 |
302 | K>E | No |
ClinGen Ensembl |
|
|
CA374160272 rs1466116523 |
304 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs560342776 CA5146564 |
305 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs755067591 CA5146566 |
306 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1166392035 CA374160286 |
306 | L>P | No |
ClinGen gnomAD |
|
|
CA5146565 rs755067591 |
306 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752907850 CA5146567 |
308 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1456957404 CA374160303 |
309 | S>N | No |
ClinGen gnomAD |
|
|
CA5146568 rs756361487 |
310 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA374160315 rs1389984418 |
311 | L>M | No |
ClinGen gnomAD |
|
|
rs777996729 CA5146569 |
311 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA196701967 rs1050113268 COSM1176597 |
312 | D>G | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs749721887 CA5146570 |
314 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1364851607 CA374160332 |
314 | E>K | No |
ClinGen gnomAD |
|
|
rs1315089834 CA374160342 |
315 | K>T | No |
ClinGen gnomAD |
|
|
CA196701983 rs961325342 |
316 | V>A | No |
ClinGen Ensembl |
|
|
CA196701980 rs912533047 |
316 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA374160355 rs1244111821 |
317 | P>L | No |
ClinGen gnomAD |
|
|
rs540915855 CA374160358 |
318 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5146573 rs191384426 |
319 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1208977680 CA374160386 |
322 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA374160392 rs1304504628 |
323 | G>S | No |
ClinGen TOPMed |
|
|
rs1269404418 CA374160405 |
324 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA5146574 rs541978554 |
324 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA374160421 rs1325088085 |
325 | K>N | No |
ClinGen TOPMed |
|
|
rs774997060 CA5146575 |
325 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs151147258 CA5146576 |
326 | Q>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA374160435 rs1207329706 |
326 | Q>H | No |
ClinGen gnomAD |
|
|
CA196702020 rs927668422 |
326 | Q>R | No |
ClinGen Ensembl |
|
|
CA374160458 rs1564205970 |
328 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1564205967 CA374160452 |
328 | P>S | No |
ClinGen Ensembl |
|
|
rs776266101 CA5146578 |
329 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5146577 rs768409743 |
329 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA374160504 rs1289535418 |
335 | T>S | No |
ClinGen TOPMed |
|
|
rs765151533 CA5146581 |
337 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs765151533 CA5146580 |
337 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs916355748 CA196702038 |
337 | M>V | No |
ClinGen TOPMed |
|
|
rs762997255 CA5146582 |
338 | A>T | No |
ClinGen ExAC |
|
|
CA374160528 rs1345027592 |
339 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA196702111 rs200558274 |
340 | D>A | No |
ClinGen 1000Genomes |
|
|
rs752891372 CA5146584 |
340 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA196702124 rs945071729 |
342 | K>* | No |
ClinGen TOPMed |
|
|
CA374160546 rs945071729 |
342 | K>E | No |
ClinGen TOPMed |
|
|
rs1289079474 CA374160568 |
345 | V>M | No |
ClinGen gnomAD |
|
|
CA374160574 rs1352340083 |
346 | A>T | No |
ClinGen gnomAD |
|
|
CA5146586 rs778105947 |
347 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA374160587 rs1587878794 |
348 | L>M | No |
ClinGen Ensembl |
|
|
rs1043385219 CA196702166 |
350 | V>G | No |
ClinGen Ensembl |
|
|
rs1211936208 CA374160613 |
352 | Y>S | No |
ClinGen gnomAD |
|
|
rs372005786 CA5146587 |
353 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1001754965 CA196702195 |
354 | S>N | No |
ClinGen TOPMed |
|
|
CA5146589 rs779276379 |
355 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs746318646 CA5146590 |
356 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1485282713 CA374160655 |
359 | S>R | No |
ClinGen TOPMed |
|
|
rs772576151 CA5146591 |
359 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5146592 rs773639105 |
360 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA5146593 rs746575726 |
361 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746575726 CA374160667 |
361 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768158623 CA374160676 |
362 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA374160675 rs768158623 |
362 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768158623 CA5146594 |
362 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374160685 rs1296289035 |
364 | A>T | No |
ClinGen TOPMed |
|
|
CA374160753 rs1372554017 |
368 | M>R | No |
ClinGen gnomAD |
|
|
CA196702243 rs961088321 |
368 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA374160773 rs1278928773 |
369 | Y>C | No |
ClinGen gnomAD |
|
|
rs747777898 CA5146597 |
369 | Y>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5146596 rs747777898 |
369 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1304756237 CA374160807 |
371 | V>M | No |
ClinGen TOPMed |
|
|
rs1220831230 CA374160868 |
374 | P>A | No |
ClinGen gnomAD |
|
|
CA5146599 rs771147038 |
376 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA5146600 rs771147038 |
376 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA374161005 rs1375148683 |
381 | L>F | No |
ClinGen TOPMed |
|
|
CA196702286 rs775411557 |
382 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775411557 CA5146602 |
382 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA196702314 rs1026781684 |
384 | L>H | No |
ClinGen TOPMed |
|
|
rs1481808631 CA374161051 |
384 | L>V | No |
ClinGen gnomAD |
|
|
CA374161061 rs1203844766 |
385 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA374161059 rs1203844766 |
385 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA374161094 rs1564206142 |
386 | D>Y | No |
ClinGen Ensembl |
|
|
rs779876593 CA196702338 |
387 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA5146604 rs779876593 |
387 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA5146605 rs754045537 |
389 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 389 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA196702383 rs985346487 |
390 | I>V | No |
ClinGen TOPMed |
|
|
CA5146606 rs372232770 |
392 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs765522687 CA5146608 |
393 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1564206162 CA374161315 |
393 | I>M | No |
ClinGen Ensembl |
|
|
rs765522687 CA5146607 |
393 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs887898280 CA196702398 |
397 | P>T | No |
ClinGen Ensembl |
|
|
rs1564206174 CA374161436 |
399 | K>R | No |
ClinGen Ensembl |
|
|
rs912468692 CA196702404 |
401 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5146610 rs780574930 |
402 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs943991492 CA196702425 |
403 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA5146611 rs747498675 |
404 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA374161554 rs1587879002 |
404 | A>V | No |
ClinGen Ensembl |
|
|
rs530610768 CA196702437 |
405 | K>E | No |
ClinGen 1000Genomes |
|
|
rs780579998 CA5146613 |
406 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374161587 rs780579998 |
406 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1402822879 CA374161665 |
408 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs773127507 CA5146616 |
409 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs913246549 CA196702451 |
410 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs369891285 CA196702455 |
410 | T>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA5146617 rs749145383 |
411 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145545604 CA5146619 |
412 | K>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs764179156 CA374161836 |
417 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5146621 rs764179156 |
417 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5146622 rs776583414 |
418 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA196702505 rs199686400 |
419 | Q>* | No |
ClinGen 1000Genomes |
|
|
rs758720057 CA5146626 |
422 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA5146625 rs566332281 |
422 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs758720057 CA374161911 |
422 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA374161916 rs1435658973 |
423 | D>G | No |
ClinGen gnomAD |
|
|
CA5146628 rs752046246 |
428 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA196702544 rs150323833 |
428 | A>T | No |
ClinGen ESP gnomAD |
|
|
CA196702565 rs961564135 |
429 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs755443044 CA5146629 |
432 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs780748474 CA5146630 |
432 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 433 | E>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs186876252 CA5146632 |
435 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5146634 rs748981064 |
440 | S>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5146635 rs770802468 |
441 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs778589649 CA5146636 |
442 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1238234413 CA374162061 |
444 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs373534828 CA5146637 |
446 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5146638 rs137960660 |
446 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1587879141 CA374162090 |
448 | F>S | No |
ClinGen Ensembl |
|
|
CA5146642 rs146047308 |
451 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs763172476 CA5146643 |
452 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5146644 VAR_033044 rs17852595 |
456 | P>L | No |
ClinGen UniProt ExAC dbSNP gnomAD |
|
|
CA196702663 rs377406077 |
456 | P>S | No |
ClinGen ESP TOPMed |
|
|
COSM1464308 rs1360572984 CA374162160 |
458 | M>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA374162163 rs1461483967 |
459 | I>V | No |
ClinGen TOPMed |
|
|
CA5146646 rs760073934 |
461 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs990524723 CA196702720 |
463 | A>V | No |
ClinGen TOPMed |
|
|
rs1564206353 CA374162677 |
467 | V>L | No |
ClinGen Ensembl |
|
|
rs752225106 CA5146651 |
472 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA374162883 rs1298900773 |
476 | N>D | No |
ClinGen Ensembl |
|
|
rs1364100285 CA374162890 |
476 | N>T | No |
ClinGen TOPMed |
|
|
rs755645925 CA5146652 |
477 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs886063213 CA374163775 |
482 | Y>F | No |
ClinGen TOPMed |
|
|
CA5146669 rs753208423 |
484 | G>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 485 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761278796 CA5146670 |
485 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1382896131 CA374163876 |
487 | Y>C | No |
ClinGen TOPMed |
|
| TCGA novel | 492 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs138814978 CA5146671 |
493 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753467703 CA5146672 |
498 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1390374308 CA374164277 |
502 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA5146675 rs750118075 |
503 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 504 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1348235816 CA374164340 |
508 | I>L | No |
ClinGen gnomAD |
|
|
CA5146676 rs758075785 |
509 | T>A | No |
ClinGen ExAC |
|
|
CA5146677 rs142912842 |
509 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374164355 rs1165397755 |
510 | P>L | No |
ClinGen TOPMed |
|
|
CA5146678 rs746878811 |
510 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs754974413 CA5146679 |
512 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs777815644 CA5146680 |
513 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777815644 CA196705899 |
513 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374164373 rs1439120279 |
514 | V>M | No |
ClinGen gnomAD |
|
|
rs1181898135 CA374164380 |
515 | N>H | No |
ClinGen TOPMed |
|
|
rs749376093 CA5146681 |
515 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs549305205 CA5146682 |
516 | V>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5146683 rs774397915 |
517 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376918636 CA5146685 |
522 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1479883566 CA374164435 |
524 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 526 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764759233 CA5146688 |
526 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1003577893 CA196705972 |
528 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs749983797 CA5146692 |
531 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5146691 rs764821436 |
531 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758070288 CA5146693 |
532 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1347845475 CA374164489 |
532 | A>S | No |
ClinGen gnomAD |
|
|
rs1460294397 CA374164514 |
536 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 539 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370363564 CA5146696 |
541 | K>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5146709 rs772843479 |
546 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA196709397 rs920375550 |
546 | Y>H | No |
ClinGen Ensembl |
|
|
rs1174105151 CA374166812 |
549 | Y>H | No |
ClinGen gnomAD |
|
|
CA374166968 rs1190915191 |
552 | S>C | No |
ClinGen TOPMed |
|
|
rs766066951 CA5146711 |
554 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA196709416 rs983623382 |
556 | E>A | No |
ClinGen Ensembl |
|
|
CA374167167 rs1288884016 |
558 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 558 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 562 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754728007 CA5146713 |
564 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA5146715 rs148718632 |
565 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs267602329 CA196709420 |
565 | P>S | No |
ClinGen Ensembl |
|
|
CA5146717 rs778855708 |
566 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA196709448 rs866475054 |
567 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1215033804 CA374167476 |
568 | C>R | No |
ClinGen TOPMed |
|
|
rs777562034 COSM752349 CA196709449 |
568 | C>Y | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs750576967 CA5146718 |
571 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA5146722 rs769081054 |
572 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs747253566 CA5146721 |
572 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA374167691 rs1414211486 |
577 | C>G | No |
ClinGen gnomAD |
|
|
rs1308671657 CA374167754 |
579 | L>F | No |
ClinGen gnomAD |
|
|
CA374169452 rs1356286538 |
581 | G>V | No |
ClinGen gnomAD |
|
|
rs545420970 CA374169464 |
582 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1370897801 CA374169511 |
583 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs997264099 CA196710414 |
585 | L>P | No |
ClinGen Ensembl |
|
|
CA5146743 rs748593033 |
587 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5146741 rs755314880 |
587 | D>N | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5146742 rs755314880 |
587 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374169632 rs1346735058 |
588 | D>Y | No |
ClinGen gnomAD |
|
|
CA374169654 rs770168032 |
589 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA5146744 rs770168032 |
589 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs778302084 CA5146745 |
590 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA374169761 rs1251210738 |
593 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs770369971 CA5146747 |
593 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs773857213 CA5146748 |
597 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA5146749 rs759186070 |
598 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA196710497 rs867291993 |
600 | C>Y | No |
ClinGen Ensembl |
|
|
CA5146751 rs775128636 |
602 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1421813124 CA374170113 |
606 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 608 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753747078 CA5146754 |
610 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs527604581 CA5146755 |
611 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA374170255 rs1369967844 |
612 | A>T | No |
ClinGen gnomAD |
|
|
CA196710523 rs1028637310 |
615 | P>L | No |
ClinGen TOPMed |
|
|
rs766559772 CA5146757 |
616 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA196710549 rs150822540 |
617 | V>A | No |
ClinGen ESP |
|
| rs750207077 | 618 | V>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767820265 CA5146760 |
621 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA196710590 rs1137640 |
626 | D>G | No |
ClinGen Ensembl |
|
|
CA5146764 rs373975201 |
628 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778013170 CA5146763 |
628 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA374170811 rs1244031944 |
629 | N>S | No |
ClinGen gnomAD |
|
|
rs778382930 CA5146766 |
633 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs368946105 CA5146767 |
634 | C>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5146769 rs775171458 |
638 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA374171073 rs1564210611 |
638 | I>V | No |
ClinGen Ensembl |
|
| TCGA novel | 640 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374171237 rs1319991103 |
642 | S>P | No |
ClinGen gnomAD |
|
|
rs1223476321 CA374171667 |
650 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA374171645 rs1223476321 |
650 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA196711187 COSM3699306 rs765068577 |
651 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs773234039 CA5146795 |
652 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA196711190 rs565575456 |
654 | T>A | No |
ClinGen Ensembl |
|
|
rs1587887486 CA374171831 |
654 | T>R | No |
ClinGen Ensembl |
|
| TCGA novel | 656 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762811232 CA5146796 |
657 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1197453722 CA374171926 |
658 | V>I | No |
ClinGen TOPMed |
|
|
rs767567053 CA5146797 |
659 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA196711246 rs185816494 |
664 | D>A | No |
ClinGen 1000Genomes |
|
|
rs920032390 COSM1267591 CA196711235 |
664 | D>H | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA374172070 rs1313968130 |
665 | G>A | No |
ClinGen gnomAD |
|
|
CA5146802 rs754177638 |
668 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA196711263 rs530102296 COSM3835246 |
669 | C>F | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs765618359 CA5146804 |
671 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA374172198 rs1212061840 |
672 | P>T | No |
ClinGen gnomAD |
|
|
rs750870803 CA5146805 |
673 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs758890179 CA5146806 |
674 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5146807 rs779614591 |
675 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs750316315 CA196711342 CA374172299 |
677 | N>K | No |
ClinGen gnomAD |
|
|
CA5146812 rs555739749 |
684 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5146813 rs777724956 |
684 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5146814 rs749235316 |
689 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749235316 CA374172615 |
689 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1254573315 CA374172646 |
690 | F>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 690 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374172695 rs1564211093 |
691 | H>R | No |
ClinGen Ensembl |
|
|
CA374172766 rs770840226 |
693 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5146815 rs770840226 |
693 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1384069355 CA374173909 |
694 | H>N | No |
ClinGen gnomAD |
|
|
rs778665179 CA374173914 |
694 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778665179 CA5146834 |
694 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5146835 rs745846055 |
695 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA196712396 rs976184887 |
696 | T>I | No |
ClinGen TOPMed |
|
|
CA374173977 rs1295014575 |
697 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA374173967 rs1389478987 |
697 | S>P | No |
ClinGen TOPMed |
|
|
rs762022951 CA5146838 |
698 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA374174076 rs1458336144 |
701 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA374174191 rs1260515121 |
706 | C>S | No |
ClinGen gnomAD |
|
|
rs1209617054 CA374174253 |
709 | I>M | No |
ClinGen TOPMed |
|
|
CA374174320 rs1189332035 |
712 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs149857246 CA5146841 |
712 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1341966197 CA374174368 |
714 | C>* | No |
ClinGen TOPMed |
|
|
rs145841064 CA5146842 |
715 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1474489432 CA374174398 |
716 | G>E | No |
ClinGen gnomAD |
|
|
CA5146843 rs763181413 |
719 | L>V | No |
ClinGen ExAC gnomAD |
|
|
COSM79296 rs375523180 CA5146844 |
720 | R>* | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
COSM1464311 rs1455590371 CA374174464 |
720 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs760133709 CA5146846 |
722 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs539155003 CA196714103 |
724 | T>A | No |
ClinGen 1000Genomes |
|
|
rs1049322850 CA196714105 |
724 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA374174974 rs1465544010 |
725 | N>D | No |
ClinGen gnomAD |
|
|
CA374175062 rs1254935342 |
728 | S>G | No |
ClinGen TOPMed |
|
|
CA374175100 rs1375320991 |
729 | S>I | No |
ClinGen gnomAD |
|
|
rs774837838 COSM486804 CA5146863 |
730 | R>Q | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs369261967 CA5146862 |
730 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5146864 rs760115305 |
731 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs768178070 COSM1187781 CA5146865 |
732 | L>F | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA374175277 rs1277645364 |
735 | Q>R | No |
ClinGen gnomAD |
|
|
rs1282322020 CA374175370 |
738 | D>G | No |
ClinGen gnomAD |
|
|
CA5146867 rs371922427 |
738 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1175858385 CA374175502 |
742 | V>A | No |
ClinGen gnomAD |
|
|
rs763688542 CA5146868 |
742 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374175510 rs1237895692 |
743 | T>A | No |
ClinGen gnomAD |
|
|
CA5146869 rs753362201 |
743 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5146870 rs756944630 |
744 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1393392914 CA374175637 |
746 | K>R | No |
ClinGen gnomAD |
|
|
rs764923242 CA5146871 |
747 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1441078843 CA374175732 |
749 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA374175744 rs1369781881 |
749 | E>V | No |
ClinGen TOPMed |
|
|
CA374175799 rs1383644440 |
751 | R>K | No |
ClinGen TOPMed |
|
|
rs1330439301 CA374175869 |
754 | P>L | No |
ClinGen gnomAD |
|
|
rs779920597 CA5146874 |
755 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA5146878 rs183885850 |
756 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5146876 rs373541786 |
756 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374175944 rs1297019332 |
759 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA5146880 rs774824908 CA374175977 |
761 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772585763 CA196714227 |
764 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772585763 CA5146882 |
764 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 765 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1432987907 CA374177217 |
769 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 770 | K>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1312914108 CA374177276 |
772 | C>R | No |
ClinGen gnomAD |
|
|
rs766150626 CA5146910 |
775 | D>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 776 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1417100607 CA374177392 |
778 | Q>H | No |
ClinGen gnomAD |
|
|
rs767538479 CA5146913 |
780 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5146912 rs759361396 |
780 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs137878640 CA5146911 |
780 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA196715452 rs745659852 |
781 | G>A | No |
ClinGen Ensembl |
|
|
rs745659852 CA196715444 |
781 | G>V | No |
ClinGen Ensembl |
|
|
rs752597965 CA5146914 |
782 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752597965 CA5146915 |
782 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374177478 rs1351717829 |
783 | W>C | No |
ClinGen gnomAD |
|
|
CA5146916 rs779136648 |
784 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs940125396 CA196715467 |
785 | P>L | No |
ClinGen Ensembl |
|
|
CA196715480 rs1048998075 |
787 | A>T | No |
ClinGen TOPMed |
|
|
CA374177538 rs1486647357 |
787 | A>V | No |
ClinGen gnomAD |
|
|
CA5146918 rs758749132 |
791 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA5146919 rs780557179 |
796 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA5146921 rs185538998 |
798 | C>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5146922 rs191427281 |
799 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5146923 rs748610487 |
802 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769237140 CA5146924 |
802 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1401744667 CA374177869 |
803 | I>V | No |
ClinGen TOPMed |
|
|
rs756683065 CA5146943 |
806 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1373412576 CA374178363 |
808 | V>M | No |
ClinGen gnomAD |
|
|
CA5146944 rs777233715 |
809 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1274265116 CA374178429 |
810 | E>D | No |
ClinGen gnomAD |
|
|
rs1340008820 CA374178470 |
812 | R>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs748847018 CA5146945 |
813 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA374178543 rs1255990961 |
814 | I>L | No |
ClinGen gnomAD |
|
|
CA5146947 rs142092319 |
815 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5146948 rs745510126 |
815 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA374178644 rs1468166353 |
816 | H>L | No |
ClinGen TOPMed |
|
|
CA374178658 rs1449471777 |
817 | V>L | No |
ClinGen gnomAD |
|
|
CA196716788 rs955862168 |
818 | Y>C | No |
ClinGen TOPMed |
|
| TCGA novel | 818 | Y>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374178814 rs145839305 |
822 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5146949 rs145839305 |
822 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374178865 rs1428027171 |
824 | N>S | No |
ClinGen TOPMed |
|
|
CA374178941 rs1417508471 |
826 | P>A | No |
ClinGen TOPMed |
|
|
rs760683250 CA5146951 |
827 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA5146955 rs766576013 |
832 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA5146956 rs751750332 |
833 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755214186 CA5146958 |
834 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150379400 CA5146959 |
834 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs150379400 CA196716857 |
834 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs755214186 CA5146957 |
834 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370374788 CA5146960 |
835 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1276201970 CA374179158 |
835 | Q>H | No |
ClinGen gnomAD |
|
|
CA374179154 rs1247701879 |
835 | Q>R | No |
ClinGen TOPMed |
|
|
CA196716874 rs866057519 |
836 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1314025791 CA374179246 |
839 | A>T | No |
ClinGen TOPMed |
|
|
CA196716875 rs1038123168 |
840 | D>N | No |
ClinGen TOPMed |
|
|
rs778203012 CA5146961 |
841 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1047217460 CA196716880 |
841 | L>S | No |
ClinGen TOPMed |
|
|
rs754373920 CA5146962 |
843 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1261871703 CA374179363 |
844 | H>L | No |
ClinGen gnomAD |
|
|
CA5146964 rs778299312 |
845 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs745517020 CA5146965 |
845 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1370550820 CA374179496 |
850 | L>F | No |
ClinGen gnomAD |
|
|
CA5146967 rs779864021 |
852 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs746846762 CA5146968 |
855 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA5146969 rs768606835 |
856 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1296370054 CA374179579 |
857 | A>P | No |
ClinGen gnomAD |
|
|
rs776647926 CA5146970 |
858 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1479414960 CA374179621 |
859 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1479414960 CA374179619 |
859 | S>Y | No |
ClinGen TOPMed |
|
|
rs761857305 CA5146971 |
860 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1384859480 CA374179643 |
860 | P>L | No |
ClinGen TOPMed |
|
|
rs761857305 CA5146972 |
860 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs774363246 CA5146973 |
861 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA5146975 rs759775219 |
862 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs1421284769 CA374179731 |
864 | N>S | No |
ClinGen TOPMed |
|
|
rs752940105 CA5146977 |
865 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374179786 rs1587893433 |
866 | N>S | No |
ClinGen Ensembl |
|
|
CA5146978 rs760986925 |
867 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764446051 CA5146979 |
868 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs762383339 CA196717018 |
868 | P>T | No |
ClinGen Ensembl |
|
|
rs368465753 CA374179897 |
870 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368465753 CA5146982 |
870 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5146984 rs758043386 |
871 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA5146985 rs779520766 |
872 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1359963312 CA374179989 |
873 | T>I | No |
ClinGen gnomAD |
|
|
CA374180010 rs1435336995 |
874 | G>R | No |
ClinGen gnomAD |
|
|
CA374180038 rs1314625984 |
875 | E>K | No |
ClinGen gnomAD |
|
|
rs1376829526 CA374180176 |
879 | K>R | No |
ClinGen gnomAD |
|
|
CA5146987 rs746667320 |
881 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374180236 rs746667320 |
881 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746667320 CA5146986 |
881 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1390742102 CA374180283 |
882 | T>I | No |
ClinGen TOPMed |
|
|
CA5146989 rs748096747 |
883 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369854063 CA196717099 COSM1243671 |
883 | D>Y | oesophagus [Cosmic] | No |
ClinGen cosmic curated Ensembl |
| TCGA novel | 884 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1237489632 CA374180365 |
884 | V>G | No |
ClinGen gnomAD |
|
|
rs1564214904 CA374180339 |
884 | V>I | No |
ClinGen Ensembl |
|
|
CA196717100 rs769277204 |
887 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA5146991 rs774468338 |
888 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs774468338 CA5146992 |
888 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5146990 rs769661518 |
888 | S>P | No |
ClinGen ExAC |
|
|
rs1212286171 CA374180485 |
889 | M>T | No |
ClinGen gnomAD |
|
|
rs775620997 CA5146994 |
893 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764427678 CA196717133 |
894 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764427678 CA5146996 |
894 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138199272 CA374180640 |
894 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5146998 rs142868591 |
895 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765710079 CA5146999 |
895 | A>V | No |
ClinGen ExAC |
|
|
rs371710376 CA196717149 |
896 | F>L | No |
ClinGen ESP |
|
|
CA374180737 rs1379819279 |
898 | T>P | No |
ClinGen gnomAD |
|
| TCGA novel | 900 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 901 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374180871 rs1178280791 |
903 | P>S | No |
ClinGen gnomAD |
|
|
CA196717161 rs903893808 |
905 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA374180934 rs1298594495 |
907 | L>V | No |
ClinGen gnomAD |
|
|
CA374180974 rs1444179129 |
908 | S>P | No |
ClinGen gnomAD |
|
|
CA5147003 rs751248172 |
909 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1371212231 CA374181033 |
910 | P>L | No |
ClinGen gnomAD |
|
|
rs754747700 CA5147004 |
912 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs748005832 CA5147006 |
914 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA374181202 rs1261025179 |
917 | Y>S | No |
ClinGen TOPMed |
|
|
rs1252321209 CA374181247 |
920 | V>L | No |
ClinGen gnomAD |
|
|
CA374181259 rs1459343612 |
921 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1001320398 CA196717239 |
923 | H>D | No |
ClinGen gnomAD |
|
|
rs777533841 CA5147008 |
925 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5147009 rs749251699 |
926 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs200572225 CA5147010 |
928 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5147011 rs369105231 |
929 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA196717292 rs146083361 |
931 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374686155 CA5147013 |
933 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1029526933 CA196717296 |
934 | E>D | No |
ClinGen Ensembl |
|
|
rs1452120229 CA374181600 |
935 | I>M | No |
ClinGen TOPMed |
|
|
rs776953670 CA5147014 |
935 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs762032394 CA5147015 |
940 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1291340728 CA374182728 |
945 | M>V | No |
ClinGen gnomAD |
|
|
CA196717340 rs140130382 |
949 | Y>F | No |
ClinGen ESP gnomAD |
|
|
rs1564215052 CA374182792 |
950 | S>N | No |
ClinGen Ensembl |
|
|
CA196717357 rs773537488 |
950 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374182803 rs1320576752 |
951 | V>M | No |
ClinGen gnomAD |
|
|
rs1196137548 CA374182819 |
953 | E>K | No |
ClinGen TOPMed |
|
|
rs1018354683 CA196717363 |
954 | E>K | No |
ClinGen Ensembl |
|
|
rs1429865459 CA374182845 COSM241864 |
955 | R>C | prostate [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA5147019 rs763575980 |
955 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763824575 CA5147016 |
956 | H>* | No |
ClinGen ExAC gnomAD |
|
|
rs1257763837 CA374182862 |
956 | H>R | No |
ClinGen gnomAD |
|
|
CA196717381 rs909600703 |
957 | I>K | No |
ClinGen TOPMed gnomAD |
|
|
rs909600703 CA374182874 |
957 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5147020 rs765986650 |
957 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751158396 CA5147021 |
958 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs918346929 CA196717392 |
960 | E>K | No |
ClinGen Ensembl |
|
|
rs754655694 CA5147022 |
962 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA374182963 COSM168189 rs1197048726 |
964 | V>A | large_intestine [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1187131394 CA374182961 |
964 | V>L | No |
ClinGen gnomAD |
|
|
rs1265285054 CA374183007 |
968 | K>T | No |
ClinGen gnomAD |
|
|
rs767231476 CA5147023 |
971 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1412630990 CA374183485 |
974 | H>P | No |
ClinGen gnomAD |
|
| TCGA novel | 974 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759079302 CA374183520 |
975 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1418452082 CA374183566 |
978 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs373308444 CA5147043 |
979 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778769271 CA374183727 |
987 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778769271 CA5147047 |
987 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1279269781 CA374183752 |
989 | V>A | No |
ClinGen gnomAD |
|
|
rs546809051 CA5147050 |
989 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5147052 rs770099113 |
995 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA5147054 rs777982037 |
997 | H>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5147055 rs771454542 |
998 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 1000 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774933173 CA5147056 |
1001 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs202206922 CA5147058 |
1002 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5147059 rs142381945 |
1004 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374184104 rs1416598526 |
1007 | P>H | No |
ClinGen gnomAD |
|
|
rs4437756 CA196719615 |
1009 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs4437756 CA5147062 |
1009 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA5147063 rs761553115 COSM375483 |
1011 | M>I | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs750350012 CA5147065 |
1013 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA374184200 rs1224961341 |
1015 | L>P | No |
ClinGen gnomAD |
|
|
rs781105446 CA5147067 |
1019 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA374184313 rs1290999352 |
1022 | A>T | No |
ClinGen TOPMed |
|
|
rs1240749384 CA374184359 |
1024 | L>F | No |
ClinGen TOPMed |
|
|
CA5147077 rs760179989 |
1027 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA374185797 rs376898705 |
1027 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5147076 rs376898705 |
1027 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1005633245 CA196726759 |
1029 | C>F | No |
ClinGen TOPMed |
|
|
rs776277700 CA5147079 |
1029 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA5147080 rs761464845 |
1029 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA374185869 rs1478403033 |
1032 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1478403033 CA374185873 |
1032 | W>C | No |
ClinGen gnomAD |
|
|
rs1053011657 CA196726760 |
1033 | S>T | No |
ClinGen Ensembl |
|
|
CA374185881 rs1196369529 |
1033 | S>Y | No |
ClinGen gnomAD |
|
|
CA196726766 rs1018391989 |
1038 | M>V | No |
ClinGen TOPMed |
|
|
rs900021234 CA374185949 |
1039 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs900021234 CA196726769 |
1039 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs377340161 COSM285644 CA5147081 |
1041 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA196726788 rs150874966 |
1043 | H>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA5147083 rs763239759 |
1044 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1403711204 CA374186006 |
1044 | V>M | No |
ClinGen gnomAD |
|
|
rs375902207 CA5147084 |
1047 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs181329949 CA5147085 |
1050 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 1053 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA196726813 rs998195738 |
1053 | V>M | No |
ClinGen Ensembl |
|
|
rs764095465 CA5147088 |
1054 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs764095465 CA5147087 |
1054 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1266864432 CA374186116 |
1054 | Q>H | No |
ClinGen gnomAD |
|
|
CA374186128 rs1353770633 |
1055 | T>I | No |
ClinGen gnomAD |
|
|
rs1460957034 CA374186138 |
1056 | V>A | No |
ClinGen gnomAD |
|
|
CA374186134 rs1208728260 |
1056 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA196726841 rs1049816838 |
1058 | E>* | No |
ClinGen Ensembl |
|
|
CA374186161 rs1286096122 |
1059 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs557147473 CA5147089 |
1060 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 1060 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200913253 CA196726849 |
1061 | N>K | No |
ClinGen 1000Genomes |
|
|
CA5147090 rs368390334 |
1062 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1065 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs139433258 CA5147092 |
1065 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746284660 CA5147091 |
1065 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA196726904 rs1030690429 |
1067 | V>I | No |
ClinGen TOPMed |
|
|
CA5147095 rs768152100 |
1070 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs371142443 CA5147094 |
1070 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374186349 COSM1103017 rs1564220709 |
1075 | S>L | Variant assessed as Somatic; impact. skin endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
| TCGA novel | 1079 | T>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5147097 rs546206812 |
1079 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs879227282 CA196726989 |
1080 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1395385499 CA374186418 |
1081 | T>S | No |
ClinGen TOPMed |
|
|
CA5147101 rs766092476 |
1082 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA196727002 rs957764874 |
1083 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 1084 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374186462 rs1355200965 |
1084 | H>R | No |
ClinGen gnomAD |
|
|
CA5147102 rs774288686 |
1085 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs754009712 CA5147105 |
1090 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5147104 rs764228113 |
1090 | Y>H | No |
ClinGen ExAC |
|
|
rs1216546718 CA374186526 |
1091 | L>V | No |
ClinGen TOPMed |
|
|
CA374186534 rs1201405784 |
1092 | I>T | No |
ClinGen gnomAD |
|
|
rs1487977274 CA374186531 |
1092 | I>V | No |
ClinGen TOPMed |
|
|
CA5147106 rs757529490 |
1093 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1440971259 CA374186546 |
1094 | L>F | No |
ClinGen gnomAD |
|
|
CA196727049 rs916378399 |
1096 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs750701741 CA5147109 |
1097 | V>I | No |
ClinGen ExAC |
|
|
rs750701741 CA5147108 |
1097 | V>L | No |
ClinGen ExAC |
|
|
rs780292059 CA5147110 |
1099 | N>Q | No |
ClinGen ExAC gnomAD |
1 associated diseases with Q8NHU6
[MIM: 613887]: Cataract 36 (CTRCT36)
An opacification of the crystalline lens of the eye becoming evident at birth. It frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. {ECO:0000269|PubMed:21436445}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- An opacification of the crystalline lens of the eye becoming evident at birth. It frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. {ECO:0000269|PubMed:21436445}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| chromatoid body | A ribonucleoprotein complex found in the cytoplasm of male germ cells, composed of exceedingly thin filaments that are consolidated into a compact mass or into dense strands of varying thickness that branch to form an irregular network. Contains mRNAs, miRNAs, and protein components involved in miRNA processing (such as Argonaute proteins and the endonuclease Dicer) and in RNA decay (such as the decapping enzyme DCP1a and GW182). |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| mitochondrial matrix | The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation. |
| P granule | A small cytoplasmic, non-membranous RNA/protein complex aggregate in the primordial germ cells of many higher eukaryotes. |
| ribonucleoprotein granule | A non-membranous macromolecular complex containing proteins and translationally silenced mRNAs. RNA granules contain proteins that control the localization, stability, and translation of their RNA cargo. Different types of RNA granules (RGs) exist, depending on the cell type and cellular conditions. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| mRNA binding | Binding to messenger RNA (mRNA), an intermediate molecule between DNA and protein. mRNA includes UTR and coding sequences, but does not contain introns. |
| protein N-terminus binding | Binding to a protein N-terminus, the end of any peptide chain at which the 2-amino (or 2-imino) function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| lens fiber cell differentiation | The process in which a relatively unspecialized cell acquires specialized features of a lens fiber cell, any of the elongated, tightly packed cells that make up the bulk of the mature lens in the camera-type eye. The cytoplasm of a lens fiber cell is devoid of most intracellular organelles including the cell nucleus, and contains primarily crystallins, a group of water-soluble proteins expressed in vary large quantities. |
| lens morphogenesis in camera-type eye | The process in which the anatomical structures of the lens are generated and organized. The lens is a transparent structure in the eye through which light is focused onto the retina. An example of this process is found in Mus musculus. |
| P granule organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of polar granules, cytoplasmic, non-membranous RNA/protein complex aggregates in the primordial germ cells of many higher eukaryotes. |
| piRNA metabolic process | The chemical reactions and pathways involving piRNAs, Piwi-associated RNAs, a class of 24- to 30-nucleotide RNA derived from repeat or complex DNA sequence elements and processed by a Dicer-independent mechanism. |
| post-transcriptional regulation of gene expression | Any process that modulates the frequency, rate or extent of gene expression after the production of an RNA transcript. |
| spermatogenesis | The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLEGDLVSKM | LRAVLQSHKN | GVALPRLQGE | YRSLTGDWIP | FKQLGFPTLE | AYLRSVPAVV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RIETSRSGEI | TCYAMACTET | ARIAQLVARQ | RSSKRKTGRQ | VNCQMRVKKT | MPFFLEGKPK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ATLRQPGFAS | NFSVGKKPNP | APLRDKGNSV | GVKPDAEMSP | YMLHTTLGNE | AFKDIPVQRH |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VTMSTNNRFS | PKASLQPPLQ | MHLSRTSTKE | MSDNLNQTVE | KPNVKPPASY | TYKMDEVQNR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| IKEILNKHNN | GIWISKLPHF | YKELYKEDLN | QGILQQFEHW | PHICTVEKPC | SGGQDLLLYP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| AKRKQLLRSE | LDTEKVPLSP | LPGPKQTPPL | KGCPTVMAGD | FKEKVADLLV | KYTSGLWASA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LPKAFEEMYK | VKFPEDALKN | LASLSDVCSI | DYISGNPQKA | ILYAKLPLPT | DKIQKDAGQA |
| 430 | 440 | 450 | 460 | 470 | 480 |
| HGDNDIKAMV | EQEYLQVEES | IAESANTFME | DITVPPLMIP | TEASPSVLVV | ELSNTNEVVI |
| 490 | 500 | 510 | 520 | 530 | 540 |
| RYVGKDYSAA | QELMEDEMKE | YYSKNPKITP | VQAVNVGQLL | AVNAEEDAWL | RAQVISTEEN |
| 550 | 560 | 570 | 580 | 590 | 600 |
| KIKVCYVDYG | FSENVEKSKA | YKLNPKFCSL | SFQATKCKLA | GLEVLSDDPD | LVKVVESLTC |
| 610 | 620 | 630 | 640 | 650 | 660 |
| GKIFAVEILD | KADIPLVVLY | DTSGEDDINI | NATCLKAICD | KSLEVHLQVD | AMYTNVKVTN |
| 670 | 680 | 690 | 700 | 710 | 720 |
| ICSDGTLYCQ | VPCKGLNKLS | DLLRKIEDYF | HCKHMTSECF | VSLPFCGKIC | LFHCKGKWLR |
| 730 | 740 | 750 | 760 | 770 | 780 |
| VEITNVHSSR | ALDVQFLDSG | TVTSVKVSEL | REIPPRFLQE | MIAIPPQAIK | CCLADLPQSI |
| 790 | 800 | 810 | 820 | 830 | 840 |
| GMWTPDAVLW | LRDSVLNCSD | CSIKVTKVDE | TRGIAHVYLF | TPKNFPDPHR | SINRQITNAD |
| 850 | 860 | 870 | 880 | 890 | 900 |
| LWKHQKDVFL | SAISSGADSP | NSKNGNMPMS | GNTGENFRKN | LTDVIKKSMV | DHTSAFSTEE |
| 910 | 920 | 930 | 940 | 950 | 960 |
| LPPPVHLSKP | GEHMDVYVPV | ACHPGYFVIQ | PWQEIHKLEV | LMEEMILYYS | VSEERHIAVE |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| KDQVYAAKVE | NKWHRVLLKG | ILTNGLVSVY | ELDYGKHELV | NIRKVQPLVD | MFRKLPFQAV |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| TAQLAGVKCN | QWSEEASMVF | RNHVEKKPLV | ALVQTVIENA | NPWDRKVVVY | LVDTSLPDTD |
| 1090 | |||||
| TWIHDFMSEY | LIELSKVN |