Q13535
PR
Gene name |
ATR (FRP1) |
Protein name |
Serine/threonine-protein kinase ATR |
Names |
Ataxia telangiectasia and Rad3-related protein, FRAP-related protein 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:545 |
EC number |
2.7.11.1: Protein-serine/threonine kinases |
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
2494-2516 (Activation loop from InterPro)
Target domain |
2296-2633 (Phosphatidylinositol 3-/4-kinase, catalytic domain) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure
Activated structure
2 structures for Q13535
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 5YZ0 | EM | 470 A | A/B | 1-2644 | PDB |
| AF-Q13535-F1 | Predicted | AlphaFoldDB |
1610 variants for Q13535
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs542947776 RCV002547387 RCV001339470 CA2650879 |
5 | G>S | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA2650822 RCV000863858 RCV000344722 VAR_041584 rs35306038 |
64 | T>A | Seckel syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA2650821 RCV000502344 RCV001244740 RCV003126769 rs758564083 RCV003126770 |
66 | V>M | Variant assessed as Somatic; 0.0 impact. Seckel syndrome 1 Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA354828555 RCV001336289 rs1394561249 |
72 | I>V | Seckel syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001214178 CA2650815 RCV002451467 RCV003127688 RCV003127689 rs147353060 |
81 | L>F | Seckel syndrome 1 Inborn genetic diseases Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000388659 rs200407265 CA2650813 |
87 | S>I | Seckel syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000334213 RCV003126642 RCV000224538 rs28897763 CA2650812 VAR_041585 RCV000431865 |
90 | H>Y | Seckel syndrome 1 Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002438192 CA2650807 RCV000489630 rs138473993 |
97 | I>F | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000387048 RCV000863624 RCV003126690 rs146405935 CA2650784 |
109 | R>W | Seckel syndrome 1 Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs754728006 RCV003127798 CA2650774 RCV001315962 RCV002366169 RCV003127799 |
128 | C>W | Seckel syndrome 1 Inborn genetic diseases Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA84756085 RCV002375536 rs146413649 |
133 | L>F | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003182998 rs749942139 CA354827001 |
144 | V>A | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000263417 rs749942139 CA2650768 |
144 | V>G | Seckel syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2650767 rs765018743 RCV000353625 |
146 | T>A | Seckel syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003126896 rs368592452 RCV003126897 RCV000658132 CA2650766 |
146 | T>K | Seckel syndrome 1 Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA84755874 RCV001367260 RCV001252909 rs532495501 |
177 | R>Q | Variant assessed as Somatic; 0.0 impact. Microcephaly [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes NCI-TCGA dbSNP |
|
RCV001147817 rs2034933781 |
180 | S>N | Seckel syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001520183 RCV000079600 RCV000267092 CA147188 VAR_050532 rs2227928 |
211 | M>T | Seckel syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003127593 RCV002363585 rs978437399 CA84755805 RCV001043035 RCV003127594 |
218 | A>S | Seckel syndrome 1 Inborn genetic diseases Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000145333 RCV003126538 VAR_041586 rs2229033 RCV001512944 RCV001147814 CA171382 RCV000210817 |
297 | K>N | Seckel syndrome 1 Seckel syndrome 1 (sckl1) Hereditary cancer-predisposing syndrome Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003166676 CA84755612 RCV001298961 rs1005834442 |
311 | R>S | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs28897764 CA171384 RCV000145334 VAR_041587 RCV000361827 RCV001517033 RCV003126539 |
316 | V>I | Seckel syndrome 1 Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2650696 RCV000862591 RCV000443991 RCV003126720 RCV001005028 RCV002524842 RCV001147813 rs150008448 |
331 | D>G | Seckel syndrome 1 Familial cancer of breast Inborn genetic diseases Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003126689 CA10617423 RCV000302970 RCV003144237 RCV002418207 rs886058056 |
336 | R>W | Variant assessed as Somatic; 0.0 impact. Seckel syndrome 1 Inborn genetic diseases Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs764970007 RCV003125898 RCV003125899 RCV001774613 CA2650638 RCV002386540 |
429 | P>S | Seckel syndrome 1 Inborn genetic diseases Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2650631 RCV002379235 RCV000404943 RCV001314905 rs535140939 |
440 | P>S | Seckel syndrome 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000861682 RCV001146907 RCV000145289 CA171338 rs28367453 RCV003126511 RCV002381453 |
443 | R>T | Seckel syndrome 1 Inborn genetic diseases Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003127600 CA2650610 RCV003127599 RCV001048436 rs202239914 |
453 | H>Q | Seckel syndrome 1 Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001315161 RCV003127797 rs2034833475 RCV002395672 RCV003127796 |
468 | Q>R | Seckel syndrome 1 Inborn genetic diseases Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2650603 rs371350410 RCV001269380 RCV001146906 RCV000983900 |
471 | E>Q | Seckel syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001146905 rs750056135 CA2650595 RCV002393368 RCV003127647 RCV001304856 |
480 | S>I | Seckel syndrome 1 Inborn genetic diseases Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1577697163 RCV001858470 CA354822349 RCV001004835 |
534 | W>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003169746 rs2034797864 RCV001351599 |
535 | M>V | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003127579 RCV003127578 RCV001000997 rs200491706 RCV001364232 CA2650546 |
542 | K>E | Seckel syndrome 1 Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001047684 RCV002393234 CA354822148 RCV003127597 RCV003127598 rs1374321250 |
548 | R>K | Seckel syndrome 1 Inborn genetic diseases Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA2650515 RCV000392742 rs747451103 |
595 | S>L | Seckel syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs759350161 RCV001237659 CA2650505 RCV002411876 |
615 | A>T | Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs757490543 RCV003127709 RCV001236879 RCV003127710 |
618 | L>missing | Seckel syndrome 1 Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2650501 RCV003127591 RCV001036705 RCV003127592 rs762564926 RCV002409366 |
620 | L>F | Seckel syndrome 1 Inborn genetic diseases Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA2650498 rs769300741 RCV001144960 RCV002411650 RCV003127642 |
628 | Y>C | Seckel syndrome 1 Inborn genetic diseases Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
rs1378333855 RCV000779389 CA354819720 |
635 | R>* | Variant assessed as Somatic; 0.0 impact. Seckel syndrome 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
rs202162034 RCV001819849 RCV001144959 RCV002411649 RCV001213729 CA2650470 |
635 | R>Q | Seckel syndrome 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003159616 rs1553770633 RCV001857075 RCV000503847 RCV003126768 CA354819015 RCV003126767 |
698 | D>N | Seckel syndrome 1 Inborn genetic diseases Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002557103 CA84748370 RCV001144958 rs377450037 |
721 | M>T | Seckel syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
RCV002554469 rs765704773 RCV001064866 CA2650409 |
731 | P>S | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs749078940 RCV003127768 CA2650400 RCV002447278 RCV003127767 RCV001298453 |
754 | S>L | Seckel syndrome 1 Inborn genetic diseases Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs77208665 CA345968 RCV000223960 RCV000145296 |
764 | K>E | Seckel syndrome 1 Seckel syndrome 1 (sckl1) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1489808838 RCV000987344 CA354818442 |
769 | L>I | Seckel syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs757500301 RCV001207629 RCV001387917 RCV003127681 RCV000429278 |
774 | I>missing | Endometrial neoplasm Seckel syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA84748125 RCV002246286 RCV001294990 RCV003127764 RCV003127765 rs979155439 |
776 | S>T | Seckel syndrome 1 Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001314909 RCV003127794 RCV002447333 CA2650362 RCV003127795 rs200582541 |
807 | G>R | Seckel syndrome 1 Inborn genetic diseases Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs369120067 CA2650355 RCV003163520 RCV001202400 |
822 | V>M | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
CA2650352 rs756567587 RCV001151059 |
831 | I>M | Seckel syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV003127825 rs367864862 CA2650300 RCV001348767 RCV003127826 RCV002456514 |
880 | A>T | Variant assessed as Somatic; 0.0 impact. Seckel syndrome 1 Inborn genetic diseases Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs141606250 RCV003126687 CA2650296 RCV000378923 RCV001326850 |
885 | V>I | Seckel syndrome 1 Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2034545465 RCV001147707 |
893 | L>S | Seckel syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001058648 CA2650288 rs146202702 RCV001147706 RCV000604475 RCV002528543 |
902 | S>P | Seckel syndrome 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000502214 rs141783863 RCV000983891 CA2650282 RCV000264411 |
926 | F>L | Seckel syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs28910271 RCV000377847 RCV000590603 VAR_041588 RCV000145300 CA171351 RCV003126517 |
959 | V>M | Seckel syndrome 1 Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003127820 CA2650246 rs369913351 RCV003127819 RCV002438793 RCV001344363 |
981 | V>I | Variant assessed as Somatic; 0.0 impact. Seckel syndrome 1 Inborn genetic diseases Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV003127732 RCV002436968 RCV003127731 RCV001246497 rs2034402314 |
1009 | A>T | Seckel syndrome 1 Inborn genetic diseases Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002570593 rs1453839157 RCV001255752 CA354812470 |
1015 | R>* | Variant assessed as Somatic; 0.0 impact. Seckel syndrome 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
CA2650208 rs771309709 RCV001245022 RCV002319681 RCV003127723 RCV003127724 |
1025 | R>H | Variant assessed as Somatic; 0.0 impact. Seckel syndrome 1 Inborn genetic diseases Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV003163584 CA2650202 RCV001208946 rs367641692 |
1051 | R>C | Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA2650201 RCV003126920 RCV000714839 RCV001862008 RCV003126919 RCV000714838 RCV002325441 rs770645649 |
1051 | R>H | ATR-X-related syndrome Seckel syndrome 1 Seckel syndrome Inborn genetic diseases Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1000929934 CA84742997 RCV003163326 RCV001146814 |
1054 | H>R | Seckel syndrome 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1208889130 RCV003127823 RCV002456511 RCV003127824 CA354809556 RCV001348273 |
1122 | Y>N | Seckel syndrome 1 Inborn genetic diseases Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000145303 RCV001244890 RCV000431332 RCV003126519 CA345974 rs149008479 |
1142 | S>G | Seckel syndrome 1 Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2650117 RCV003169098 rs145853128 RCV000862638 |
1145 | I>V | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001146813 RCV003127646 RCV002339419 rs1442649106 |
1153 | N>D | Seckel syndrome 1 Inborn genetic diseases Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA345955 RCV002512562 rs587777851 RCV000144692 |
1159 | M>I | Seckel syndrome 1 Seckel syndrome 1 (sckl1) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001367822 RCV000362802 RCV001821038 rs201438783 CA2650088 RCV003126686 |
1166 | H>P | Seckel syndrome 1 Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs201438783 RCV002451575 RCV001237924 CA2650087 |
1166 | H>R | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs2034027417 RCV001252731 |
1189 | P>L | Microcephaly [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001860559 rs34766606 VAR_041590 CA2650047 RCV001252765 |
1213 | S>G | Microcephaly [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA354807532 RCV001144847 RCV003127641 rs1300617940 RCV001371325 RCV003163322 |
1216 | I>V | Seckel syndrome 1 Inborn genetic diseases Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1472876650 CA354806711 RCV001343474 RCV003169648 |
1263 | K>N | Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000764472 rs377689383 RCV002362779 RCV000145306 RCV001369920 CA345976 |
1267 | V>I | Seckel syndrome 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs869312789 RCV000210177 |
1317 | K>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003127831 RCV002377498 RCV003127830 rs2033272014 RCV001352114 |
1336 | V>E | Seckel syndrome 1 Inborn genetic diseases Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003127773 RCV002322201 CA354802479 RCV001302673 rs1396313983 RCV003127772 |
1354 | C>S | Seckel syndrome 1 Inborn genetic diseases Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002326854 CA345980 RCV000145310 RCV002512568 rs587783328 |
1436 | N>D | Seckel syndrome 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1419619777 RCV003166779 RCV001312629 CA354800290 |
1440 | H>R | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV003126526 RCV000584856 rs148064542 CA345982 RCV000145311 |
1451 | R>W | Seckel syndrome 1 Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000427924 rs144591613 RCV003126727 CA2649872 RCV002328976 RCV003126728 |
1459 | N>S | Seckel syndrome 1 Inborn genetic diseases Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA2649857 RCV003126731 rs78895258 RCV000429372 RCV002506062 RCV003126730 |
1469 | T>A | Seckel syndrome 1 Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2032818637 RCV002327516 RCV003127697 RCV003127696 RCV001219713 |
1481 | S>N | Seckel syndrome 1 Inborn genetic diseases Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002562481 rs753008812 RCV001219643 CA2649844 |
1488 | A>V | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001150942 RCV001320683 CA2649840 RCV003127650 rs766604943 |
1497 | Y>C | Seckel syndrome 1 Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003127793 RCV003127792 RCV001312768 rs2032702060 RCV002341628 |
1521 | D>A | Seckel syndrome 1 Inborn genetic diseases Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000503813 RCV001439802 RCV001150941 rs34124242 CA2649816 VAR_050533 |
1526 | I>V | Seckel syndrome 1 Seckel syndrome 1 (sckl1) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2649813 RCV003127649 RCV001241211 RCV001150940 rs200070057 |
1531 | H>R | Seckel syndrome 1 Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001246365 RCV003127730 RCV002568652 CA2649809 rs138350940 RCV003127729 RCV002484378 |
1539 | G>S | Seckel syndrome 1 Inborn genetic diseases Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002327365 rs929755679 RCV003127620 RCV001070718 RCV003127621 |
1568 | D>V | Seckel syndrome 1 Inborn genetic diseases Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2649773 rs140533205 RCV001303033 RCV003127775 RCV003127774 RCV002341601 |
1577 | S>I | Seckel syndrome 1 Inborn genetic diseases Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA2649770 rs772382675 RCV002327542 RCV003127702 RCV003127701 RCV001227257 |
1593 | R>K | Seckel syndrome 1 Inborn genetic diseases Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002341722 RCV003127822 RCV003127821 RCV001347079 rs187734529 CA2649767 |
1598 | A>T | Seckel syndrome 1 Inborn genetic diseases Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001821037 VAR_041592 CA2649761 rs55724025 RCV000289642 RCV003126683 RCV000861408 |
1607 | S>N | Seckel syndrome 1 Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000513807 RCV003126529 rs55894265 CA171364 VAR_041593 RCV000145315 RCV000381642 |
1612 | N>S | Seckel syndrome 1 Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000488084 CA2649759 RCV003126751 RCV000764471 RCV003126750 rs201492267 |
1616 | S>A | Seckel syndrome 1 Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV003127590 CA354794767 RCV002337090 RCV001036594 RCV003127589 rs201492267 |
1616 | S>P | Seckel syndrome 1 Inborn genetic diseases Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002329291 RCV003127803 RCV003127804 rs4282075 RCV001326232 |
1633 | L>I | Seckel syndrome 1 Inborn genetic diseases Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000210088 rs778813551 CA351206 |
1653 | R>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000677226 rs1553761113 CA354820470 |
1665 | K>N | Seckel syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003126762 rs143806447 RCV001147606 RCV000503118 CA2649657 RCV001044060 |
1753 | I>V | Seckel syndrome 1 Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003169536 RCV001326847 CA354818358 rs772903137 |
1754 | T>N | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2649654 rs377386677 RCV003127648 RCV001371783 RCV001147605 |
1762 | N>K | Seckel syndrome 1 Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003127785 RCV003127784 rs763130593 RCV002486189 RCV003166735 CA2649640 RCV001305622 |
1768 | D>G | Seckel syndrome 1 Inborn genetic diseases Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000193925 CA207737 RCV003126579 rs376811787 RCV002345687 RCV003126578 |
1769 | E>Q | Seckel syndrome 1 Inborn genetic diseases Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs886058055 CA2649635 RCV000387569 |
1783 | Q>H | Seckel syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000277930 rs367898142 CA2649580 RCV003126682 RCV001296079 |
1858 | C>R | Seckel syndrome 1 Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA344475 rs387907327 RCV000034827 |
1879 | D>Y | Seckel syndrome 1 Seckel syndrome 1 (sckl1) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA2649573 RCV001338632 RCV001146707 rs145185913 RCV003127645 |
1881 | L>P | Seckel syndrome 1 Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000145321 CA345987 rs587783334 |
1911 | N>S | Seckel syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001346336 rs769972178 RCV003169684 CA2649529 |
1922 | E>K | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs753319463 RCV001065820 RCV003127617 RCV003127616 RCV002355079 CA2649518 |
1957 | V>M | Seckel syndrome 1 Inborn genetic diseases Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002356623 RCV000423554 RCV003126736 CA2649446 RCV003126737 rs751198306 |
1967 | G>D | Seckel syndrome 1 Inborn genetic diseases Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA2649442 RCV002557142 RCV001146706 rs757634741 |
1991 | P>T | Seckel syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2649441 RCV000357036 RCV003126681 rs150339560 RCV000861124 |
1996 | M>T | Seckel syndrome 1 Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs145569221 RCV003127725 RCV001245669 CA2649435 RCV003127726 RCV001819948 |
2008 | R>L | Seckel syndrome 1 Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs145569221 RCV001307823 CA2649436 RCV003127644 RCV001146705 |
2008 | R>Q | Seckel syndrome 1 Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003126680 rs886058052 RCV001861209 RCV000306009 CA10615454 |
2066 | R>Q | Seckel syndrome 1 Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV003127806 CA2649398 RCV001326633 rs369309229 RCV003127805 RCV002366208 |
2066 | R>W | Variant assessed as Somatic; 0.0 impact. Seckel syndrome 1 Inborn genetic diseases Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA84750879 rs949653613 RCV001316332 RCV003166813 |
2068 | I>M | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs372864251 RCV000294625 CA2649376 RCV002365411 RCV000998145 |
2076 | L>V | Seckel syndrome 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003126679 RCV000987343 CA2649375 rs757353909 |
2087 | M>V | Seckel syndrome 1 Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001147508 VAR_041596 RCV003126534 RCV000224032 RCV000432011 rs28910273 CA345990 |
2132 | Y>D | Seckel syndrome 1 Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs387906797 RCV000023082 CA215139 VAR_067919 |
2144 | Q>R | Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome FCTCS [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs2071170618 RCV001147507 |
2199 | N>D | Seckel syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003127747 RCV002366101 RCV001270759 rs2071168591 |
2225 | L>F | Seckel syndrome 1 Inborn genetic diseases Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002368115 rs775198036 RCV003127813 CA2649269 RCV001337600 RCV003127812 |
2267 | I>T | Seckel syndrome 1 Inborn genetic diseases Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003127783 rs758772379 RCV002366149 RCV001305360 CA2649258 RCV003127782 |
2293 | I>V | Seckel syndrome 1 Inborn genetic diseases Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001861208 RCV000263087 rs145119827 RCV002365410 CA2649255 |
2299 | M>T | Seckel syndrome 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA345992 rs587783338 RCV003126535 RCV001246807 RCV000145328 |
2321 | F>L | Seckel syndrome 1 Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001304152 RCV001535567 RCV003126604 RCV000210153 rs778835776 CA351218 |
2407 | R>H | Seckel syndrome 1 Hereditary cancer-predisposing syndrome Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001242426 rs2070974907 RCV002375283 RCV003127721 RCV003127722 |
2417 | L>S | Seckel syndrome 1 Inborn genetic diseases Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA354797578 rs1310011888 RCV001815508 RCV001196171 |
2425 | R>* | Seckel syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000321936 RCV000586392 VAR_041598 RCV000145330 CA171378 rs2229032 RCV003126504 |
2425 | R>Q | Seckel syndrome 1 Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003126537 RCV000514912 CA171380 RCV000145331 RCV000264483 VAR_041599 rs33972295 |
2434 | P>A | Seckel syndrome 1 Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002563164 rs149045116 RCV001229485 CA2649161 |
2435 | I>V | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003126677 RCV000361494 RCV003126678 RCV001347669 rs756975919 |
2453 | S>missing | Seckel syndrome 1 Seckel syndrome Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002379755 CA2649140 RCV003127680 rs144887641 RCV001198847 |
2467 | V>I | Seckel syndrome 1 Inborn genetic diseases Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001197725 rs2070968355 |
2470 | I>V | Seckel syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003127811 RCV003127810 RCV002384449 CA2649132 rs777776233 RCV001337596 |
2476 | R>H | Seckel syndrome 1 Inborn genetic diseases Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001229308 rs376735982 RCV003127707 CA84726148 RCV003127708 RCV002379876 |
2476 | R>S | Seckel syndrome 1 Inborn genetic diseases Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV000304413 rs556313656 RCV001453256 CA2649130 |
2491 | V>I | Variant assessed as Somatic; 0.0 impact. Seckel syndrome 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002393600 CA84721718 RCV003127712 rs1043401586 RCV001236946 RCV003127713 |
2553 | V>D | Seckel syndrome 1 Inborn genetic diseases Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA2649077 RCV000404039 rs200490116 RCV000442621 |
2556 | T>S | Seckel syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002404825 rs1309520394 RCV003127827 CA354794076 RCV001348808 RCV003127828 |
2578 | N>Y | Seckel syndrome 1 Inborn genetic diseases Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001209566 RCV001144647 rs199948706 CA2649023 RCV002411648 RCV003127640 |
2606 | R>Q | Seckel syndrome 1 Inborn genetic diseases Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003127639 RCV002559396 RCV001144646 rs374127772 RCV001229817 CA2649018 |
2622 | Y>H | Seckel syndrome 1 Inborn genetic diseases Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001306867 rs1441601124 |
1 | M>T | No |
ClinVar dbSNP |
|
|
rs757635344 CA2650882 |
3 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA354795897 rs561216130 |
4 | H>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA354795894 rs1233303480 |
4 | H>Q | No |
ClinGen gnomAD |
|
|
CA2650880 rs561216130 |
4 | H>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs373534503 CA2650881 |
4 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200753177 CA2650878 |
5 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200753177 CA2650877 |
5 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200753177 CA2650876 RCV001225935 |
5 | G>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs201753798 CA2650873 |
6 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA354795850 rs1463518082 |
7 | E>G | No |
ClinGen TOPMed |
|
|
CA354795830 rs1222408462 |
9 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs748141166 CA2650870 |
10 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354795782 rs1166368568 |
11 | M>V | No |
ClinGen gnomAD |
|
|
CA2650869 rs776394147 |
12 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1476227295 CA354795761 |
12 | I>V | No |
ClinGen gnomAD |
|
|
rs1470608336 CA354795740 |
13 | P>T | No |
ClinGen gnomAD |
|
|
CA2650867 rs537822584 |
14 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA354795708 rs1206271114 |
15 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA2650866 rs779742866 |
17 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354829139 rs1237565209 |
21 | A>V | No |
ClinGen gnomAD |
|
|
rs771805892 CA84759260 |
25 | E>A | No |
ClinGen Ensembl |
|
|
CA354829118 rs1353411105 |
25 | E>K | No |
ClinGen gnomAD |
|
|
CA84759249 rs545455583 |
27 | N>K | No |
ClinGen Ensembl |
|
|
rs2035134497 RCV001307346 |
27 | N>S | No |
ClinVar dbSNP |
|
|
CA2650852 rs776647351 |
28 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs578209052 CA84759225 |
28 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs578209052 CA2650851 |
28 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA2650850 rs746600246 |
29 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1347107495 CA354829085 |
30 | V>A | No |
ClinGen gnomAD |
|
|
rs774945789 CA2650849 |
30 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA354829081 rs1157152892 |
31 | Q>E | No |
ClinGen gnomAD |
|
| TCGA novel | 34 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2650846 rs778499519 |
34 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA2650845 rs756508315 |
38 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA2650841 rs751709684 |
43 | R>Q | No |
ClinGen ExAC |
|
|
CA2650840 rs780303453 |
46 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1317279719 CA354828934 |
47 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA2650838 rs758511134 |
50 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1172775063 CA354828770 |
53 | V>A | No |
ClinGen TOPMed |
|
|
CA354828776 rs1212657913 |
53 | V>I | No |
ClinGen gnomAD |
|
|
CA84758181 rs749390486 |
54 | E>D | No |
ClinGen Ensembl |
|
|
rs1375877268 CA354828749 |
55 | L>F | No |
ClinGen TOPMed |
|
|
rs1482462998 CA354828736 |
56 | V>A | No |
ClinGen gnomAD |
|
|
rs1443962821 CA354828668 |
62 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA354828664 rs1281363680 |
62 | Q>R | No |
ClinGen TOPMed |
|
|
rs2035067219 RCV001315723 |
63 | P>L | No |
ClinVar dbSNP |
|
|
rs895335932 CA84758159 |
64 | T>N | No |
ClinGen Ensembl |
|
|
rs1276858295 CA354828637 |
65 | S>A | No |
ClinGen gnomAD |
|
|
rs750515808 CA2650820 |
67 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs375184068 CA84758130 |
72 | I>M | No |
ClinGen ESP TOPMed |
|
|
CA2650819 rs779259506 |
75 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA2650816 rs763821441 |
80 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA2650814 rs373636603 |
82 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1239531488 CA354828407 |
84 | V>I | No |
ClinGen TOPMed |
|
|
rs2035064672 RCV001211915 |
88 | G>R | No |
ClinVar dbSNP |
|
|
rs1577709768 CA354828344 |
89 | S>G | No |
ClinGen Ensembl |
|
|
rs1421634692 CA354828340 |
89 | S>N | No |
ClinGen gnomAD |
|
|
rs773847386 CA2650811 |
90 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA354828313 rs1481829794 |
91 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2650810 rs770657189 |
91 | E>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 93 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1335528590 CA354828271 |
94 | G>A | No |
ClinGen gnomAD |
|
|
rs1275079272 CA354828265 RCV001056220 |
95 | S>G | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA2650808 rs772880323 |
95 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1340025926 CA546584253 |
96 | C>* | No |
ClinGen gnomAD |
|
| TCGA novel | 97 | I>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2650789 rs762458312 |
100 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1351034487 CA354827489 |
101 | N>I | No |
ClinGen TOPMed |
|
|
CA245181 RCV000178155 rs794727632 |
102 | W>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs374764228 CA2650787 |
105 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374764228 CA2650788 |
105 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354827458 rs1325456587 |
106 | R>K | No |
ClinGen gnomAD |
|
|
rs1367157953 CA354827453 |
106 | R>S | No |
ClinGen gnomAD |
|
|
CA84756150 rs146405935 |
109 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs774885093 CA2650782 |
109 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA2650783 rs774885093 |
109 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs770922481 CA2650781 |
112 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354827389 rs1236192941 |
113 | T>A | No |
ClinGen TOPMed |
|
|
CA354827364 rs1012316291 |
115 | S>C | No |
ClinGen TOPMed |
|
|
CA84756143 rs1012316291 |
115 | S>F | No |
ClinGen TOPMed |
|
|
rs1158349298 CA354827355 |
116 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA354827349 rs1454993125 |
117 | H>N | No |
ClinGen gnomAD |
|
|
CA354827307 rs777916915 |
120 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA2650779 rs777916915 |
120 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA2650778 rs756325655 |
121 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA2650777 rs747978304 |
123 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354827190 rs1239087695 |
129 | S>P | No |
ClinGen gnomAD |
|
|
rs765419309 RCV001233541 |
131 | L>missing | No |
ClinVar dbSNP |
|
|
CA2650772 RCV001345142 rs1553772379 |
132 | F>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs146413649 CA2650771 |
133 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA84756083 rs1003913240 |
134 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA354827106 rs1231044064 |
136 | S>G | No |
ClinGen gnomAD |
|
|
CA2650770 rs766281121 |
141 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1052799986 CA84756037 |
142 | F>V | No |
ClinGen Ensembl |
|
|
CA354827009 rs1184962047 |
144 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs183663179 CA2650765 |
148 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2650763 rs759916898 |
150 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA354826933 rs1374171612 |
150 | L>S | No |
ClinGen gnomAD |
|
|
CA2650762 rs201181535 |
153 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs530678762 CA2650761 |
153 | F>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 154 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 155 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773312993 CA2650759 |
159 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA2650757 RCV001038001 rs371240700 |
160 | H>R | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2650758 rs770051146 |
160 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1270715750 CA354826800 RCV001304200 |
161 | R>G | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1205846528 CA354826776 |
162 | R>S | No |
ClinGen gnomAD |
|
|
CA354826745 rs1277150564 |
165 | M>V | No |
ClinGen gnomAD |
|
|
rs1415068332 CA354826723 |
166 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1477201902 CA354826720 |
167 | H>N | No |
ClinGen TOPMed |
|
|
rs746804777 CA2650755 |
168 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA2650754 rs550530464 |
169 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1577703939 CA354826674 |
170 | E>D | No |
ClinGen Ensembl |
|
| TCGA novel | 171 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA84755885 rs942503989 |
174 | V>I | No |
ClinGen Ensembl |
|
|
rs749947335 CA2650752 |
175 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA354826592 rs1173523308 |
177 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs373859192 RCV001347785 |
183 | D>G | No |
ClinVar dbSNP |
|
|
rs373859192 CA84755870 |
183 | D>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA84755857 rs753005644 |
184 | E>D | No |
ClinGen TOPMed |
|
|
CA2650749 rs756783888 |
185 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA2650750 rs756783888 |
185 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA354826481 rs1188776082 |
186 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA354826435 rs1259904264 |
189 | L>S | No |
ClinGen Ensembl |
|
|
CA354826437 rs1271712619 |
189 | L>V | No |
ClinGen gnomAD |
|
|
rs1331338940 CA354826425 |
190 | Q>* | No |
ClinGen TOPMed |
|
|
CA354826407 rs1235951658 |
191 | S>L | No |
ClinGen gnomAD |
|
|
rs1441692843 CA354826357 |
196 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1258631126 CA354826341 |
197 | M>I | No |
ClinGen gnomAD |
|
|
CA2650746 rs759878676 |
198 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354826317 rs1315510279 |
199 | M>I | No |
ClinGen gnomAD |
|
|
rs1216297780 CA354826326 |
199 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 201 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 203 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2650744 rs766837742 |
206 | E>K | No |
ClinGen ExAC |
|
|
rs763494560 CA2650743 |
208 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA84755813 rs944345426 |
211 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA2650742 rs769867385 |
212 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1333914311 CA354826175 |
213 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA354826155 rs1464478582 |
215 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs368507270 CA2650741 |
215 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs776894408 CA2650740 |
216 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354826148 rs1165663323 |
216 | I>V | No |
ClinGen gnomAD |
|
|
CA2650739 rs768860736 |
218 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs746817691 CA2650738 |
219 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 221 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779874468 CA2650737 |
222 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA2650736 rs771711234 |
224 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001243013 rs2034927130 |
224 | R>S | No |
ClinVar dbSNP |
|
|
CA2650735 rs745845881 |
227 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 230 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1221581542 CA354825979 |
232 | I>V | No |
ClinGen gnomAD |
|
|
rs112259166 CA84755785 |
234 | C>R | No |
ClinGen Ensembl |
|
|
rs756845185 RCV001246889 CA2650733 |
235 | V>I | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs777639145 CA2650731 |
239 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1354835562 CA354825852 |
240 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA354825848 rs1354835562 |
240 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs200418139 RCV001321055 CA84755780 |
241 | S>G | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs1376739546 CA354825841 |
241 | S>N | No |
ClinGen gnomAD |
|
|
CA84755778 rs759884814 |
244 | I>V | No |
ClinGen Ensembl |
|
| TCGA novel | 245 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1169992874 CA354825764 |
246 | S>Y | No |
ClinGen TOPMed |
|
|
rs1348254360 CA354825712 |
250 | S>G | No |
ClinGen gnomAD |
|
|
rs148033779 CA2650728 |
250 | S>R | No |
ClinGen ESP ExAC TOPMed |
|
| TCGA novel | 251 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2650727 RCV001044052 rs35648400 |
254 | E>G | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 255 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354825583 rs1365867448 |
257 | Q>H | No |
ClinGen TOPMed |
|
|
rs963017322 CA84755718 |
259 | G>R | No |
ClinGen Ensembl |
|
|
rs1382430398 CA354825518 |
262 | P>R | No |
ClinGen gnomAD |
|
|
CA2650725 rs765718925 |
265 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA354825448 rs1379595419 |
269 | F>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 270 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354825432 rs1489156760 |
271 | S>R | No |
ClinGen gnomAD |
|
|
CA354825413 rs1406216731 |
272 | S>L | No |
ClinGen TOPMed |
|
| TCGA novel | 274 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001302058 CA2650722 rs185813423 |
274 | L>F | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs760971938 CA2650721 |
276 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1238414080 CA354825328 |
279 | H>Y | No |
ClinGen gnomAD |
|
|
rs377699114 CA2650718 |
280 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377699114 CA2650719 |
280 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 281 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA84755703 rs200664758 |
282 | E>Q | No |
ClinGen Ensembl |
|
|
rs1353944560 CA354825262 |
283 | M>T | No |
ClinGen TOPMed |
|
|
rs1559998542 CA354825269 |
283 | M>V | No |
ClinGen Ensembl |
|
|
CA2650717 rs774491383 |
284 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs770990791 CA2650716 |
286 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA354825166 rs1362625443 |
288 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs959449933 CA84755695 |
289 | K>R | No |
ClinGen TOPMed |
|
|
rs777402533 CA2650714 |
290 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA2650712 rs747866858 |
292 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2650711 rs146741961 |
293 | E>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1434785489 CA354825029 |
294 | P>R | No |
ClinGen gnomAD |
|
|
rs765771965 CA2650708 |
298 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA2650707 rs757737235 |
300 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1024346239 CA84755646 |
303 | F>L | No |
ClinGen gnomAD |
|
|
CA2650705 rs764261046 |
304 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs754292203 CA2650706 |
304 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA2650704 rs149129526 |
305 | F>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA354824690 rs1310885833 |
307 | A>G | No |
ClinGen gnomAD |
|
|
CA84755625 rs891803932 |
308 | E>A | No |
ClinGen Ensembl |
|
|
rs1301199562 CA354824645 |
309 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 311 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354824472 rs767624688 |
316 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs767624688 CA2650703 |
316 | V>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 319 | N>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1467405815 CA354824371 |
320 | M>V | No |
ClinGen gnomAD |
|
|
CA2650700 rs771042068 |
323 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs773937499 RCV001172155 |
327 | V>missing | No |
ClinVar dbSNP |
|
|
rs1426228305 CA354824169 |
328 | M>I | No |
ClinGen TOPMed |
|
|
CA2650697 rs749261715 |
328 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2650694 rs147932626 |
332 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs147932626 CA2650693 |
332 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354824086 rs1255914784 |
333 | V>A | No |
ClinGen gnomAD |
|
|
rs1320148122 CA354824088 |
333 | V>M | No |
ClinGen TOPMed |
|
|
CA354824066 rs1320065796 |
335 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs754554657 CA2650692 |
336 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs933786614 CA84755558 |
337 | L>P | No |
ClinGen TOPMed |
|
|
rs1397558998 CA354824013 |
338 | K>N | No |
ClinGen gnomAD |
|
|
rs1361838755 CA354823990 |
341 | L>M | No |
ClinGen TOPMed |
|
|
rs757575787 CA2650689 |
344 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA2650688 rs754343411 |
344 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA2650687 rs764447369 |
348 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1167838100 CA354823880 |
351 | Q>K | No |
ClinGen gnomAD |
|
|
CA84755523 rs200283104 |
352 | Y>C | No |
ClinGen 1000Genomes |
|
|
CA354823831 rs1368668706 |
355 | K>I | No |
ClinGen gnomAD |
|
|
rs1207025746 CA354823806 |
357 | V>E | No |
ClinGen TOPMed |
|
|
rs759811121 CA2650683 |
357 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA84755517 rs866710163 |
358 | P>S | No |
ClinGen Ensembl |
|
|
rs751784387 CA2650682 |
360 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA354823785 rs1422398912 |
360 | G>R | No |
ClinGen gnomAD |
|
|
CA354823699 rs1254653974 |
368 | R>S | No |
ClinGen TOPMed |
|
|
rs1461321227 CA354823692 |
369 | K>R | No |
ClinGen TOPMed |
|
|
rs767456923 CA2650678 |
370 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA2650679 rs773257754 |
370 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA354823640 rs1242953145 |
374 | N>S | No |
ClinGen gnomAD |
|
|
rs902206198 CA84755501 |
375 | I>F | No |
ClinGen TOPMed |
|
|
rs2034910488 RCV001306220 |
375 | I>M | No |
ClinVar dbSNP |
|
|
rs1314061298 CA354823629 |
375 | I>T | No |
ClinGen gnomAD |
|
|
rs200947706 CA354823620 |
376 | C>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200947706 CA2650675 |
376 | C>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2650674 rs746692662 |
381 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA2650673 rs779611201 |
382 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 383 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs918314002 CA84755478 |
388 | D>H | No |
ClinGen Ensembl |
|
|
CA2650672 rs771295593 |
389 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2650656 rs750153366 |
392 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA2650655 rs765267361 |
393 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA2650653 rs776588310 |
395 | P>L | No |
ClinGen ExAC |
|
|
rs1478622574 CA354823470 |
396 | L>F | No |
ClinGen gnomAD |
|
|
CA2650652 rs768157135 |
397 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760116189 CA2650651 |
403 | E>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 403 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2650650 rs775178624 |
404 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1264159749 CA354823397 |
406 | E>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 406 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA84754818 rs370058763 |
408 | I>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370058763 CA2650648 |
408 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs978005316 CA84754831 |
408 | I>V | No |
ClinGen TOPMed |
|
|
rs777982083 CA354823382 |
409 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2650646 rs770148107 |
409 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA2650647 rs777982083 |
409 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748634899 CA2650645 |
410 | E>K | No |
ClinGen ExAC |
|
|
RCV001296303 rs2034871528 |
410 | E>V | No |
ClinVar dbSNP |
|
|
rs781738368 CA2650644 |
415 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA84754772 rs968816203 |
418 | E>V | No |
ClinGen gnomAD |
|
|
rs377186178 CA2650642 |
420 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA84754741 rs372973014 |
421 | S>G | No |
ClinGen ESP TOPMed |
|
|
rs780461293 CA2650641 |
421 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs758671510 CA2650640 |
424 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1302056164 CA354823265 |
425 | D>G | No |
ClinGen TOPMed |
|
|
CA2650639 rs750609381 |
427 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA354823233 rs1317996314 |
430 | K>T | No |
ClinGen gnomAD |
|
|
CA2650637 rs757006178 |
432 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2650636 rs753729778 |
432 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA84754678 rs986166179 |
433 | R>C | No |
ClinGen gnomAD |
|
|
CA2650635 rs369434236 RCV001067686 |
433 | R>H | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs760248783 CA2650634 |
436 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA84754650 rs766868000 |
437 | S>P | No |
ClinGen Ensembl |
|
|
CA84754643 rs866391783 |
438 | L>I | No |
ClinGen Ensembl |
|
|
CA2650630 rs535140939 |
440 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2650629 rs770059434 |
441 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs770059434 RCV001298459 |
441 | S>F | No |
ClinVar dbSNP |
|
|
rs1280612126 CA354823168 |
442 | K>E | No |
ClinGen gnomAD |
|
|
CA354823165 rs1201748012 |
442 | K>R | No |
ClinGen gnomAD |
|
|
rs28367453 CA84754636 |
443 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2650627 rs747132973 |
447 | Q>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 447 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 447 | Q>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769093283 RCV001243831 CA2650611 |
451 | I>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs886044646 RCV000386810 |
453 | H>missing | No |
ClinVar dbSNP |
|
|
RCV001035821 rs2034835255 |
454 | V>missing | No |
ClinVar dbSNP |
|
|
rs1289739042 CA354823074 |
454 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA2650609 rs776069964 |
455 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA354823055 rs1378223602 |
456 | M>I | No |
ClinGen gnomAD |
|
|
CA354823060 rs1482756120 |
456 | M>V | No |
ClinGen TOPMed |
|
|
CA2650608 rs772054510 |
460 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1183074456 CA354823026 RCV001348544 |
460 | S>N | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA2650607 rs745945899 |
460 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs531789554 RCV001327235 CA2650606 |
461 | I>K | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs749132375 CA2650604 |
465 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1411907335 CA354822972 |
468 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1445735789 CA354822954 |
470 | A>G | No |
ClinGen gnomAD |
|
|
CA354822956 rs1416544899 |
470 | A>S | No |
ClinGen TOPMed |
|
|
RCV001047537 rs2034832831 |
471 | E>G | No |
ClinVar dbSNP |
|
|
CA2650602 rs752635785 |
472 | S>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2650601 rs752635785 |
472 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354822939 rs1180472304 |
473 | L>F | No |
ClinGen gnomAD |
|
|
CA354822926 rs1577698886 |
474 | Q>H | No |
ClinGen Ensembl |
|
|
CA354822928 rs1479356878 |
474 | Q>R | No |
ClinGen gnomAD |
|
|
rs781126519 CA2650600 RCV001208318 |
475 | I>S | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA84753966 rs371017404 |
478 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001350374 CA2650598 rs371017404 |
478 | E>Q | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA84753947 rs200968047 |
483 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA354822829 rs1312070564 |
484 | N>D | No |
ClinGen gnomAD |
|
|
rs959868621 CA84753921 |
485 | P>R | No |
ClinGen Ensembl |
|
|
CA354822814 rs1351809006 |
485 | P>S | No |
ClinGen TOPMed |
|
|
rs1402949922 CA354822797 |
487 | I>T | No |
ClinGen TOPMed |
|
|
CA2650593 rs764556869 |
487 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2650592 rs761059939 RCV001064677 |
488 | E>D | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA354822791 rs1274215359 |
488 | E>K | No |
ClinGen TOPMed |
|
|
CA354822783 rs1438723592 |
488 | E>V | No |
ClinGen gnomAD |
|
|
CA2650590 rs772626702 |
489 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs776193162 CA2650591 |
489 | M>L | No |
ClinGen ExAC |
|
|
CA2650589 rs759571899 |
494 | A>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 496 | V>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2650587 rs770869293 |
497 | L>* | No |
ClinGen ExAC gnomAD |
|
|
rs769591527 CA2650585 |
501 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA84753896 rs893401695 |
501 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs769591527 CA2650584 |
501 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1266324442 CA354822651 |
502 | L>V | No |
ClinGen gnomAD |
|
|
CA354822625 rs1360033518 |
504 | T>I | No |
ClinGen gnomAD |
|
|
rs1198722562 CA354822624 |
505 | V>L | No |
ClinGen TOPMed |
|
|
rs781058647 CA2650582 |
506 | H>D | No |
ClinGen ExAC gnomAD |
|
|
RCV001326845 rs771539192 CA2650581 |
506 | H>R | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs781058647 CA354822615 |
506 | H>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 508 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751401257 CA2650580 |
509 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354822569 rs1316788495 |
510 | Q>R | No |
ClinGen gnomAD |
|
|
CA354822561 rs1242691173 |
511 | N>D | No |
ClinGen gnomAD |
|
|
CA2650578 rs757913774 |
512 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA2650579 rs779645543 |
512 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1282853895 CA354822536 |
513 | N>S | No |
ClinGen gnomAD |
|
|
CA2650561 rs371791554 |
515 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2650560 rs746970647 |
515 | R>H | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2650559 rs778022363 |
516 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758036465 CA2650558 |
518 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs148605594 CA2650557 |
518 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1414908579 CA354822458 |
520 | C>S | No |
ClinGen gnomAD |
|
|
rs778745928 CA354822439 |
522 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs778745928 CA2650556 |
522 | H>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 524 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs2034798916 RCV001229181 |
527 | K>missing | No |
ClinVar dbSNP |
|
|
rs200033739 CA2650554 |
528 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA2650552 rs755234510 |
531 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs1248870932 CA354822367 |
533 | T>A | No |
ClinGen TOPMed |
|
|
rs1249805044 CA354822359 |
534 | W>G | No |
ClinGen gnomAD |
|
|
CA354822353 rs1486940917 |
534 | W>L | No |
ClinGen TOPMed |
|
|
CA2650550 rs371466221 RCV001305809 |
540 | Y>C | No |
ClinGen ClinVar ESP ExAC dbSNP |
|
|
CA2650551 rs752124231 |
540 | Y>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 543 | V>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 545 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354822182 rs1559995010 |
546 | S>N | No |
ClinGen Ensembl |
|
|
rs1446849110 CA354822161 |
547 | C>Y | No |
ClinGen gnomAD |
|
|
rs776649237 CA2650544 |
548 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1295972483 CA354822140 |
548 | R>S | No |
ClinGen gnomAD |
|
|
rs1461133998 CA354822131 |
549 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs768509782 RCV001046268 CA2650543 |
550 | L>F | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA84753162 rs952177176 |
553 | S>F | No |
ClinGen Ensembl |
|
|
rs772100771 CA2650540 |
560 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs745417729 CA2650539 |
563 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA354821909 rs1481616236 |
565 | K>E | No |
ClinGen Ensembl |
|
|
rs778590904 CA2650538 |
567 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 568 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA84753159 rs895205069 |
570 | Y>C | No |
ClinGen Ensembl |
|
|
CA2650537 rs756790263 |
574 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1488897339 CA354821728 |
575 | Y>C | No |
ClinGen gnomAD |
|
|
CA2650536 rs748979139 |
578 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA354821539 rs1331219985 |
579 | N>K | No |
ClinGen gnomAD |
|
|
CA354821547 rs1354375178 |
579 | N>S | No |
ClinGen TOPMed |
|
|
RCV001242263 rs2034775376 |
581 | S>A | No |
ClinVar dbSNP |
|
|
CA84752858 rs983647070 |
581 | S>L | No |
ClinGen Ensembl |
|
|
rs889485390 CA84752854 |
582 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1291289916 CA354821458 |
584 | D>G | No |
ClinGen TOPMed |
|
|
CA354821455 rs1291289916 |
584 | D>V | No |
ClinGen TOPMed |
|
|
rs745834238 CA2650520 |
586 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA354821360 rs1384334751 |
589 | D>G | No |
ClinGen gnomAD |
|
|
rs770581950 CA2650518 |
592 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs145459793 CA2650517 |
593 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2650516 rs769301203 |
594 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs988620766 CA84752788 |
596 | L>P | No |
ClinGen TOPMed |
|
|
rs779378879 CA2650511 |
604 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs750939829 CA2650512 |
604 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs2227929 CA354821057 |
605 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs757421399 CA2650510 |
605 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA84752731 rs980623850 |
606 | G>D | No |
ClinGen TOPMed |
|
|
CA2650508 rs373148702 |
608 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs764422378 CA2650509 |
608 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs752930353 CA2650507 |
611 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs752930353 CA354820943 |
611 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA354820902 rs1278516813 |
614 | A>T | No |
ClinGen gnomAD |
|
|
rs374946388 CA84752691 RCV001242801 |
616 | N>S | No |
ClinGen ClinVar ESP dbSNP |
|
|
rs770769122 CA2650503 |
620 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1294444658 CA354820786 |
622 | C>Y | No |
ClinGen TOPMed |
|
|
CA354820776 rs1337661058 |
623 | R>G | No |
ClinGen TOPMed |
|
|
CA84752652 rs1020231215 |
626 | D>A | No |
ClinGen Ensembl |
|
|
rs1469410284 CA354820678 |
628 | Y>* | No |
ClinGen gnomAD |
|
|
CA84748828 rs953498984 |
631 | Q>* | No |
ClinGen TOPMed |
|
|
CA354819768 rs1313533098 |
632 | A>P | No |
ClinGen gnomAD |
|
|
rs1337680172 CA354819753 |
633 | Q>E | No |
ClinGen Ensembl |
|
|
CA354819708 rs1440130494 |
636 | C>R | No |
ClinGen gnomAD |
|
|
CA2650468 rs768261646 |
641 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs746275899 CA2650467 |
646 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs771284495 CA2650465 |
649 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs997536082 CA84748802 |
650 | E>K | No |
ClinGen TOPMed |
|
|
CA2650463 rs756210333 |
653 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA2650464 rs756210333 |
653 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs748238772 CA2650462 |
654 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1231927463 CA354819421 |
654 | A>V | No |
ClinGen gnomAD |
|
|
CA84748729 rs1052378174 |
656 | Y>H | No |
ClinGen TOPMed |
|
|
CA2650459 rs751784259 |
657 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372411144 CA2650458 |
658 | W>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2650457 rs758152041 |
659 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1265172953 CA354819325 |
661 | Q>R | No |
ClinGen gnomAD |
|
|
CA354819289 rs1287036671 |
664 | H>N | No |
ClinGen gnomAD |
|
|
rs1458351462 CA354819282 |
664 | H>R | No |
ClinGen TOPMed |
|
|
rs1559992171 CA354819266 |
665 | E>G | No |
ClinGen Ensembl |
|
|
rs750384158 CA2650456 |
665 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA84748717 rs878996572 |
668 | R>Q | No |
ClinGen Ensembl |
|
|
rs761352811 CA2650454 |
668 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs776097028 CA2650453 |
672 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760349373 CA354819175 |
676 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354819155 rs1161256882 |
679 | L>F | No |
ClinGen gnomAD |
|
|
rs1406549995 CA354819141 |
681 | Q>R | No |
ClinGen gnomAD |
|
|
CA2650449 rs140952649 RCV001348398 |
683 | N>D | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP |
|
|
CA2650448 rs749652394 |
689 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA354819069 rs773660116 |
691 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1273408972 CA354819072 |
691 | I>T | No |
ClinGen gnomAD |
|
|
rs987863780 CA84748692 |
691 | I>V | No |
ClinGen Ensembl |
|
| TCGA novel | 692 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770393852 CA2650446 |
692 | L>V | No |
ClinGen ExAC gnomAD |
|
|
RCV001035993 CA2650445 rs185048028 |
693 | I>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA354819045 rs1212603214 |
694 | D>H | No |
ClinGen gnomAD |
|
|
rs768913323 CA2650423 |
696 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA354819003 TCGA novel rs1165104835 |
699 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen TOPMed |
|
CA354819001 rs1403204644 |
700 | S>P | No |
ClinGen gnomAD |
|
|
CA2650421 rs780176321 |
701 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA2650420 rs772310828 |
701 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354818995 rs1301785134 |
701 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1451080831 CA354818986 |
702 | I>T | No |
ClinGen TOPMed |
|
|
CA354818988 rs1168756811 |
702 | I>V | No |
ClinGen gnomAD |
|
|
rs1559991679 CA354818972 |
704 | K>T | No |
ClinGen Ensembl |
|
|
CA2650419 rs746028653 |
706 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA354818949 rs1577690260 |
707 | F>S | No |
ClinGen Ensembl |
|
|
CA354818943 rs1386365987 |
708 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA84748397 rs151033656 |
710 | I>V | No |
ClinGen ESP gnomAD |
|
| TCGA novel | 711 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373600572 CA2650417 |
713 | Q>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA354818900 rs1177859208 |
715 | V>F | No |
ClinGen gnomAD |
|
|
rs1249892072 CA354818888 |
717 | T>A | No |
ClinGen gnomAD |
|
|
CA84748389 rs1030962754 |
719 | H>Y | No |
ClinGen TOPMed |
|
|
rs369939610 CA84748382 |
720 | G>A | No |
ClinGen ESP |
|
|
rs369939610 CA84748388 |
720 | G>D | No |
ClinGen ESP |
|
|
CA354818869 rs143633875 |
720 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs143633875 CA2650414 |
720 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1248026914 CA354818865 |
721 | M>V | No |
ClinGen gnomAD |
|
|
RCV001294948 rs2034660027 |
723 | Y>S | No |
ClinVar dbSNP |
|
|
rs767124195 CA2650412 |
725 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs1391520084 CA354818829 |
726 | S>N | No |
ClinGen gnomAD |
|
|
rs1375058339 CA354818825 |
726 | S>R | No |
ClinGen gnomAD |
|
|
rs372610600 CA2650410 |
727 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372610600 CA2650411 |
727 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1429492462 CA354818808 |
729 | T>I | No |
ClinGen gnomAD |
|
|
CA354818807 rs1366535624 |
730 | E>K | No |
ClinGen gnomAD |
|
|
CA354818799 rs765704773 |
731 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354818798 rs765704773 |
731 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs904124330 CA84748330 |
732 | F>L | No |
ClinGen TOPMed |
|
|
rs1356418876 CA354818779 |
734 | E>K | No |
ClinGen TOPMed |
|
|
rs1385176754 CA354818770 |
735 | H>R | No |
ClinGen gnomAD |
|
|
rs762212899 CA2650408 |
735 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA2650407 rs769252606 |
736 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1248650829 CA354818762 |
736 | G>V | No |
ClinGen gnomAD |
|
|
CA2650406 rs760713514 |
737 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs1490583794 CA354818749 |
738 | V>G | No |
ClinGen gnomAD |
|
|
rs144835955 CA2650403 |
743 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1264860794 CA354818710 |
744 | N>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA354818702 rs1437450705 |
745 | L>* | No |
ClinGen TOPMed |
|
|
rs779047219 CA2650402 |
747 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs879255363 CA10585975 RCV000239173 |
748 | T>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA2650401 rs376540496 |
748 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs906919629 CA84748236 |
749 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA354818663 rs1408800533 |
751 | H>R | No |
ClinGen gnomAD |
|
|
CA354818589 rs1403551625 |
757 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs140901705 CA84748219 |
760 | A>V | No |
ClinGen ESP |
|
|
rs777729532 CA2650399 |
761 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001209692 CA84748215 rs1036040776 |
762 | V>I | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs1362094246 CA354818516 |
763 | C>* | No |
ClinGen gnomAD |
|
| TCGA novel | 763 | C>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354818499 rs1238634482 |
765 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2650397 rs530165257 |
767 | L>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1201309113 CA546582428 |
768 | F>* | No |
ClinGen gnomAD |
|
|
rs1266555685 CA354818435 |
769 | L>Q | No |
ClinGen gnomAD |
|
|
CA354818431 rs765405340 |
770 | L>M | No |
ClinGen gnomAD |
|
|
CA354818425 rs1205601644 |
770 | L>Q | No |
ClinGen gnomAD |
|
|
CA354818419 rs1232704868 |
771 | K>Q | No |
ClinGen TOPMed |
|
|
rs2034651568 RCV001297243 |
773 | K>E | No |
ClinVar dbSNP |
|
| TCGA novel | 773 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1313136034 CA354818366 |
774 | I>K | No |
ClinGen TOPMed |
|
|
CA354818371 rs1258367105 |
774 | I>L | No |
ClinGen gnomAD |
|
| rs757500301 | 774 | I>Y | Variant assessed as Somatic; 0.000618 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2650392 rs766122444 |
776 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs755199275 CA84748099 |
777 | P>A | No |
ClinGen Ensembl |
|
|
rs746485010 CA2650374 |
783 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs779898609 CA2650373 |
787 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354817356 rs779898609 |
787 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354817360 rs1334833221 |
787 | H>Y | No |
ClinGen gnomAD |
|
|
CA2650372 rs758142762 |
790 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA2650371 rs750056041 |
791 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA354817219 rs1168273049 |
792 | H>Q | No |
ClinGen gnomAD |
|
|
rs543336253 CA2650370 |
794 | D>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs543336253 CA2650369 |
794 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA84746334 rs1012580032 |
796 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1285788948 CA354817099 |
797 | E>K | No |
ClinGen gnomAD |
|
|
rs759654086 CA2650366 |
798 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759654086 CA2650367 |
798 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2650368 rs753303415 |
798 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1441471018 CA354816979 |
801 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs766396565 TCGA novel CA354816930 |
803 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC TOPMed gnomAD |
|
RCV001228369 rs2034571374 |
803 | K>R | No |
ClinVar dbSNP |
|
|
CA354816875 rs1197888565 |
806 | L>R | No |
ClinGen gnomAD |
|
|
CA354816834 rs1247295642 |
808 | T>I | No |
ClinGen gnomAD |
|
|
rs773358931 CA2650361 |
808 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA354816737 rs747884423 |
813 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747884423 CA2650359 |
813 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769648140 CA2650360 |
813 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2650358 rs768453013 |
815 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs746890094 CA2650357 |
817 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs779738939 CA2650356 |
819 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA84746247 rs970577604 |
820 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
RCV001238239 rs2034569564 |
821 | R>T | No |
ClinVar dbSNP |
|
|
rs1310621757 CA354816586 |
822 | V>A | No |
ClinGen TOPMed |
|
|
rs1577685490 CA354816575 |
823 | A>S | No |
ClinGen Ensembl |
|
|
CA2650354 rs745529495 |
826 | G>R | No |
ClinGen ExAC gnomAD |
|
|
RCV001205483 rs778414220 CA2650353 |
831 | I>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 834 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA84746202 rs377134163 |
835 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA84746196 rs749007368 |
836 | D>E | No |
ClinGen Ensembl |
|
|
rs768121271 CA2650350 |
840 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA2650349 rs755497858 |
841 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA354816094 rs1485974785 |
841 | F>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 844 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1284210638 CA354815870 |
847 | V>I | No |
ClinGen gnomAD |
|
|
rs1039963651 CA84746087 |
855 | T>A | No |
ClinGen TOPMed |
|
|
CA2650326 rs765310204 |
856 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs750445328 RCV001345366 CA2650327 |
856 | H>R | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1319704567 CA354815601 |
859 | I>M | No |
ClinGen gnomAD |
|
|
CA2650325 rs761968912 |
860 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA354815544 rs1260790741 |
862 | N>S | No |
ClinGen TOPMed |
|
|
CA354815501 rs1460607797 |
864 | E>G | No |
ClinGen TOPMed |
|
|
CA2650324 rs754022724 |
867 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1188464928 CA354815385 |
870 | I>N | No |
ClinGen gnomAD |
|
|
CA2650323 rs763994421 |
870 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2650322 rs760532237 |
872 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200954767 CA2650320 |
875 | D>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200954767 CA354815301 |
875 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1226032953 CA354814953 |
879 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1276538701 CA354814955 |
879 | A>S | No |
ClinGen gnomAD |
|
|
CA84745805 rs144163021 |
881 | K>R | No |
ClinGen Ensembl |
|
|
CA2650299 rs778859518 |
883 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA354814889 rs1442514498 |
884 | L>F | No |
ClinGen gnomAD |
|
|
rs754064500 CA2650297 |
884 | L>W | No |
ClinGen ExAC gnomAD |
|
|
CA354814847 rs1559988588 |
888 | A>S | No |
ClinGen Ensembl |
|
|
rs752519626 CA2650294 |
888 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA84745745 rs931099299 |
889 | L>F | No |
ClinGen gnomAD |
|
|
rs1255711458 CA354814804 |
890 | L>F | No |
ClinGen gnomAD |
|
|
rs139224919 CA2650292 |
891 | H>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2650291 rs774278641 |
894 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA354814746 rs1202782083 |
895 | C>Y | No |
ClinGen gnomAD |
|
|
rs1246324901 CA354814674 |
901 | A>T | No |
ClinGen gnomAD |
|
|
CA84745715 rs367926815 |
902 | S>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA354814625 rs1246951967 |
905 | G>R | No |
ClinGen TOPMed |
|
|
CA354814573 rs1349760056 |
908 | Y>* | No |
ClinGen TOPMed |
|
|
rs747746814 CA2650287 |
908 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2650286 rs186118386 |
912 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA84745702 rs977085317 |
918 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA2650285 rs746370472 |
919 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746370472 CA2650284 |
919 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1295857035 CA354814427 |
920 | V>I | No |
ClinGen gnomAD |
|
|
rs1203058753 CA354814380 |
923 | Q>K | No |
ClinGen TOPMed |
|
|
rs779461050 CA2650283 |
923 | Q>R | No |
ClinGen ExAC |
|
|
rs1159930957 CA354814269 |
927 | S>G | No |
ClinGen gnomAD |
|
|
CA354814227 rs1463033167 |
929 | Y>C | No |
ClinGen TOPMed |
|
|
rs1232662719 CA354814138 |
933 | I>V | No |
ClinGen TOPMed |
|
|
rs2034429045 RCV001294537 |
941 | L>V | No |
ClinVar dbSNP |
|
|
CA2650263 rs771445846 |
947 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs146041880 CA2650262 |
950 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200669405 CA2650260 |
951 | N>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1354779688 RCV001239891 CA354813207 |
951 | N>K | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA354813209 rs1487781332 |
951 | N>S | No |
ClinGen gnomAD |
|
|
rs1207672337 CA354813196 |
952 | T>A | No |
ClinGen gnomAD |
|
|
rs373166002 CA2650259 |
952 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754800263 CA2650258 |
953 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs751341031 CA2650257 |
954 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1296977158 CA354813134 |
955 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs28910271 CA2650254 |
959 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2650252 rs753553510 |
960 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354812934 rs1273916434 |
962 | Q>E | No |
ClinGen TOPMed |
|
|
CA2650251 rs763768484 |
962 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA84743764 rs985214824 |
963 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA354812844 rs985214824 |
963 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs759866425 CA2650250 |
965 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs774799442 CA354812792 |
967 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs774799442 RCV001314215 |
967 | Q>E | No |
ClinVar dbSNP |
|
|
rs774799442 CA2650249 |
967 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA354812790 rs1216434682 |
967 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 968 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1245595842 CA354812767 |
970 | M>T | No |
ClinGen gnomAD |
|
|
CA354812740 rs1187410539 |
974 | T>A | No |
ClinGen gnomAD |
|
|
CA2650248 rs771161299 |
974 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 977 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1365401850 CA354812701 |
980 | N>D | No |
ClinGen gnomAD |
|
|
CA2650243 rs781312709 |
983 | D>E | No |
ClinGen ExAC gnomAD |
|
|
RCV001235324 rs537845660 CA2650244 |
983 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs911751877 CA84743673 |
989 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA84743664 rs558627427 |
989 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA |
|
rs779899145 CA2650240 |
991 | L>P | No |
ClinGen ExAC gnomAD |
|
|
RCV001062144 rs747153320 CA2650241 |
991 | L>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 994 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354812568 rs1160959387 |
998 | L>P | No |
ClinGen gnomAD |
|
|
CA2650217 rs757208137 |
1000 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1180191689 CA354812546 |
1002 | L>F | No |
ClinGen Ensembl |
|
|
rs1184743643 CA354812542 |
1003 | A>T | No |
ClinGen gnomAD |
|
|
rs866941707 CA84743252 |
1003 | A>V | No |
ClinGen Ensembl |
|
|
RCV001248459 rs2034402704 |
1005 | K>E | No |
ClinVar dbSNP |
|
|
rs749139052 CA2650216 |
1005 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001314785 CA2650215 rs531735564 |
1007 | S>N | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
CA354812506 rs1395533753 |
1008 | P>L | No |
ClinGen TOPMed |
|
|
rs6795497 CA84743237 |
1010 | A>S | No |
ClinGen Ensembl |
|
|
CA2650214 rs755521280 |
1013 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA84743231 rs776867412 |
1014 | I>V | No |
ClinGen Ensembl |
|
|
rs564283952 CA84743214 |
1015 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2650213 rs564283952 |
1015 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs767276068 CA2650212 |
1017 | L>* | No |
ClinGen ExAC gnomAD |
|
|
CA354812424 rs1559985052 |
1022 | N>T | No |
ClinGen Ensembl |
|
|
CA2650209 rs765651974 |
1024 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs980426116 CA84743186 |
1025 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 1027 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354812386 rs1440895000 |
1028 | I>V | No |
ClinGen TOPMed |
|
|
rs1304815047 CA354812368 |
1030 | I>R | No |
ClinGen TOPMed |
|
|
rs2034399947 RCV001342331 |
1030 | I>V | No |
ClinVar dbSNP |
|
|
rs1577677513 CA354812333 |
1035 | Y>H | No |
ClinGen Ensembl |
|
| TCGA novel | 1038 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs868780628 CA84743150 |
1039 | H>Y | No |
ClinGen Ensembl |
|
|
CA2650206 rs28910272 CA354812293 |
1040 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs933512346 CA84743118 |
1044 | C>R | No |
ClinGen TOPMed |
|
|
rs1388887054 CA354812269 |
1044 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA354812270 rs1388887054 |
1044 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA2650204 rs772258541 |
1048 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs901999537 CA84743109 |
1048 | E>V | No |
ClinGen TOPMed |
|
|
CA2650200 rs749262038 |
1052 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA354812147 rs1577677394 |
1054 | H>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 1057 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757677799 CA2650174 |
1064 | L>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1064 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354810959 rs1577675053 |
1065 | G>R | No |
ClinGen Ensembl |
|
|
rs139173669 CA2650171 |
1081 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354810750 rs1449808108 |
1082 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs146504354 CA2650169 |
1082 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2650168 rs759599231 |
1086 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA84741758 VAR_041589 rs34253059 |
1087 | Y>H | No |
ClinGen UniProt TOPMed dbSNP gnomAD |
|
|
rs1239346724 CA354810682 |
1088 | Q>* | No |
ClinGen TOPMed |
|
|
rs1051324098 CA84741744 |
1095 | S>L | No |
ClinGen Ensembl |
|
|
CA84741736 rs758605592 |
1096 | I>M | No |
ClinGen Ensembl |
|
|
rs1176218951 CA354810592 |
1096 | I>V | No |
ClinGen gnomAD |
|
|
rs1445932301 CA354810569 |
1098 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1577674865 CA354810495 |
1102 | S>F | No |
ClinGen Ensembl |
|
|
rs1176336373 CA354810502 |
1102 | S>P | No |
ClinGen TOPMed |
|
|
CA84741728 rs142583176 |
1103 | S>G | No |
ClinGen ESP |
|
|
CA354810451 rs1414653416 |
1105 | D>V | No |
ClinGen gnomAD |
|
|
CA354810458 rs1472512908 |
1105 | D>Y | No |
ClinGen Ensembl |
|
|
CA354810443 rs1183775791 |
1106 | P>A | No |
ClinGen gnomAD |
|
|
CA354810438 rs1482402700 |
1106 | P>Q | No |
ClinGen gnomAD |
|
|
CA84741719 rs946970654 |
1107 | Y>F | No |
ClinGen TOPMed |
|
|
CA2650163 rs368676027 |
1107 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1107 | Y>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1297497736 CA354810417 |
1108 | Q>* | No |
ClinGen TOPMed |
|
|
CA2650161 rs761664344 |
1109 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA2650159 rs746483302 |
1110 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA2650158 rs746483302 |
1110 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA2650154 rs778004569 |
1112 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745492318 CA2650155 |
1112 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1112 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2650152 rs753261168 |
1113 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756443045 CA2650153 |
1113 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1303699973 CA354810335 |
1114 | I>M | No |
ClinGen TOPMed |
|
|
rs781663208 CA2650151 |
1114 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1115 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2650149 rs768537399 |
1116 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA2650148 rs751619036 |
1117 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA2650146 rs763118360 |
1118 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1118 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354809594 rs1487190338 |
1120 | A>G | No |
ClinGen gnomAD |
|
|
CA2650122 rs757163714 |
1127 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA2650123 rs765465161 |
1127 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1129 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2650119 rs760692449 |
1134 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1043355995 | 1135 | N>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA84738576 rs879077032 |
1135 | N>H | No |
ClinGen Ensembl |
|
|
CA354809242 rs1321308668 |
1139 | L>M | No |
ClinGen gnomAD |
|
|
CA84738574 rs764859886 |
1139 | L>P | No |
ClinGen Ensembl |
|
|
rs1577665251 CA354809229 |
1140 | S>N | No |
ClinGen Ensembl |
|
|
CA354809200 rs1458683345 |
1142 | S>I | No |
ClinGen TOPMed |
|
|
rs1386808501 CA354809188 |
1143 | V>A | No |
ClinGen gnomAD |
|
|
rs1156558758 CA354809178 |
1144 | G>V | No |
ClinGen gnomAD |
|
|
rs377698546 CA2650116 |
1145 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs748892082 CA2650115 |
1150 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs748892082 CA2650114 |
1150 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA354808007 rs1442649106 |
1153 | N>H | No |
ClinGen gnomAD |
|
|
CA2650091 rs563040643 |
1153 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1485611222 CA354807972 |
1155 | L>* | No |
ClinGen gnomAD |
|
|
rs1209257747 CA354807976 |
1155 | L>M | No |
ClinGen gnomAD |
|
|
rs1276028936 CA354807927 |
1159 | M>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA354807918 rs1231282916 |
1160 | K>R | No |
ClinGen gnomAD |
|
|
CA354807898 rs1269676828 |
1162 | M>I | No |
ClinGen gnomAD |
|
|
rs1340086255 CA354807904 |
1162 | M>L | No |
ClinGen gnomAD |
|
|
rs1245720062 CA354807894 |
1163 | G>E | No |
ClinGen gnomAD |
|
|
rs1245720062 CA354807892 |
1163 | G>V | No |
ClinGen gnomAD |
|
|
rs1342547062 CA354807881 |
1165 | K>R | No |
ClinGen gnomAD |
|
|
CA2650089 rs201438783 |
1166 | H>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2650086 rs749578811 |
1168 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA354807818 rs1431589305 |
1174 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 1176 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1180 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756014190 CA2650084 |
1181 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2650083 rs752516284 |
1182 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA2650082 rs780802796 |
1183 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA354807747 rs1475055423 |
1186 | D>H | No |
ClinGen gnomAD |
|
|
rs1302753114 CA354807743 |
1186 | D>V | No |
ClinGen TOPMed |
|
|
CA2650078 rs762440684 |
1187 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs765890919 CA2650079 |
1187 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765890919 CA354807739 |
1187 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1233332247 CA354807730 |
1188 | F>S | No |
ClinGen Ensembl |
|
|
CA2650077 rs750147479 |
1189 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1210580484 CA354807716 |
1190 | E>V | No |
ClinGen gnomAD |
|
|
CA354807707 rs191631592 |
1191 | L>F | No |
ClinGen 1000Genomes TOPMed |
|
|
CA354807693 rs1305450836 |
1193 | C>F | No |
ClinGen gnomAD |
|
|
CA354807666 rs1389009165 |
1195 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA354807652 rs1161786403 |
1197 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 1200 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs974313531 RCV001210970 CA84734118 |
1201 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA354807622 rs1173633134 |
1201 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA354807613 rs1251161025 |
1203 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs749952876 CA354807605 |
1204 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749952876 CA2650049 |
1204 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354807597 rs1553767201 RCV000500453 |
1205 | H>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs995558230 CA84734109 |
1206 | A>T | No |
ClinGen Ensembl |
|
|
CA354807585 rs1465514861 |
1207 | C>Y | No |
ClinGen gnomAD |
|
|
CA354807573 rs1250182269 |
1209 | G>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA84734092 rs894127223 |
1209 | G>D | No |
ClinGen Ensembl |
|
|
rs1250182269 CA354807574 |
1209 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs764664423 CA2650048 |
1210 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764664423 CA84734086 |
1210 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753384940 CA2650046 |
1214 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA354807538 rs1350034295 |
1215 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1322081331 CA354807493 |
1222 | L>F | No |
ClinGen gnomAD |
|
|
rs763495773 CA2650041 |
1223 | I>M | No |
ClinGen ExAC |
|
|
CA2650042 rs766979796 |
1223 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs554925737 CA2650043 |
1223 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2650040 rs773428756 |
1225 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1258899174 CA354807468 |
1226 | Q>P | No |
ClinGen gnomAD |
|
|
rs769719514 CA2650039 |
1228 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1304683324 CA354807431 |
1231 | A>V | No |
ClinGen TOPMed |
|
|
rs201150434 CA2650036 |
1232 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1173058019 CA354807430 |
1232 | A>S | No |
ClinGen gnomAD |
|
|
CA2650035 rs746798776 |
1234 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs758340364 CA2650033 |
1235 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs1042237689 CA84734045 |
1235 | H>R | No |
ClinGen gnomAD |
|
|
rs778510533 CA2650031 |
1236 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2650030 rs756702410 |
1237 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA354807393 rs1210104615 |
1238 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA354807392 rs1210104615 |
1238 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2650029 rs753568308 |
1239 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA354807376 rs1300985772 |
1240 | E>G | No |
ClinGen TOPMed |
|
|
CA84734019 rs914611293 |
1241 | N>K | No |
ClinGen TOPMed |
|
|
RCV001322231 rs2033933689 |
1242 | R>G | No |
ClinVar dbSNP |
|
|
CA2650011 rs748735097 |
1243 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748735097 CA354806945 |
1243 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756859157 CA2650012 |
1243 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA354806939 rs1559973350 |
1244 | A>V | No |
ClinGen Ensembl |
|
|
CA2650010 rs777279987 |
1245 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA2650009 rs755831990 |
1246 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2650008 rs752356196 |
1247 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA84733052 rs773984849 |
1249 | L>H | No |
ClinGen TOPMed |
|
|
CA354806904 rs1376245342 |
1250 | H>N | No |
ClinGen gnomAD |
|
|
CA2650007 rs780585932 |
1252 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs896810247 CA84733023 |
1254 | F>V | No |
ClinGen TOPMed |
|
| TCGA novel | 1255 | L>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765654800 CA2650004 |
1258 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354806787 rs1460077540 |
1258 | H>Q | No |
ClinGen gnomAD |
|
|
rs1490730413 CA354806777 |
1259 | P>R | No |
ClinGen TOPMed |
|
|
CA2650003 rs762007243 |
1260 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs202136214 CA2650002 |
1261 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1174955283 CA354806699 |
1264 | I>M | No |
ClinGen gnomAD |
|
|
rs764197585 CA2650001 |
1264 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA354806674 rs1260359422 |
1266 | A>D | No |
ClinGen TOPMed |
|
|
CA354806666 rs377689383 |
1267 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1383288417 CA354806651 |
1268 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA84732976 rs200133147 |
1269 | Q>R | No |
ClinGen Ensembl |
|
|
CA84732975 rs557315779 |
1270 | E>Q | No |
ClinGen 1000Genomes |
|
|
CA354806603 rs1332295692 |
1271 | Y>F | No |
ClinGen gnomAD |
|
|
CA354806610 rs1443828723 |
1271 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA2649997 rs759323212 |
1273 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA354806464 rs1358740303 |
1274 | E>D | No |
ClinGen Ensembl |
|
|
rs1305717049 CA354806431 |
1276 | S>F | No |
ClinGen gnomAD |
|
|
rs1232235665 CA354806429 |
1277 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA354806427 rs1232235665 |
1277 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs762819328 CA2649976 |
1278 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA354806380 rs1384170939 |
1280 | D>Y | No |
ClinGen gnomAD |
|
|
CA2649975 rs773177654 |
1282 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs935357648 CA84732516 |
1283 | T>I | No |
ClinGen Ensembl |
|
|
CA354806329 rs1286957098 |
1284 | T>A | No |
ClinGen gnomAD |
|
|
CA354806315 rs1452957329 |
1285 | L>V | No |
ClinGen gnomAD |
|
|
RCV001351641 rs2033808211 |
1288 | S>P | No |
ClinVar dbSNP |
|
|
rs1177281795 CA354806247 |
1289 | M>K | No |
ClinGen TOPMed |
|
|
rs747654205 CA2649973 |
1292 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1406692405 CA354806120 |
1298 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA2649969 rs148994209 |
1298 | D>V | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs779170933 CA2649968 |
1300 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs757622477 CA2649967 |
1300 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1577652529 CA354806039 |
1301 | I>T | No |
ClinGen Ensembl |
|
|
CA2649966 rs749802925 |
1301 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1303 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1354193987 CA354806009 |
1303 | A>P | No |
ClinGen TOPMed |
|
|
rs947429668 CA84732450 |
1309 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA2649964 rs756245840 |
1310 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA354802925 rs1166886011 |
1317 | K>R | No |
ClinGen gnomAD |
|
|
rs1401271172 CA354802897 |
1319 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2649946 rs75450693 |
1322 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1328 | V>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748613910 CA2649944 |
1331 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs965577541 CA84726527 |
1332 | I>V | No |
ClinGen Ensembl |
|
|
CA354802713 rs1273321599 |
1334 | Q>K | No |
ClinGen TOPMed |
|
|
CA354802665 rs1214501226 |
1337 | T>I | No |
ClinGen gnomAD |
|
|
rs983000315 CA84726509 |
1345 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs2033271153 RCV001240304 |
1345 | D>V | No |
ClinVar dbSNP |
|
|
rs751767612 CA2649940 |
1346 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs755061724 CA84726504 |
1346 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs755061724 CA2649941 |
1346 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs751767612 CA84726468 |
1346 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA354802558 rs1333432911 |
1347 | N>S | No |
ClinGen gnomAD |
|
|
rs1468865157 CA354802517 |
1351 | R>W | No |
ClinGen TOPMed |
|
|
rs766616536 CA2649939 |
1353 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1215446245 CA354802471 |
1355 | G>R | No |
ClinGen TOPMed |
|
|
CA84726442 rs910428570 |
1358 | L>F | No |
ClinGen TOPMed |
|
|
rs1186854060 CA354802424 |
1359 | G>R | No |
ClinGen TOPMed |
|
|
rs1461202433 CA354802409 |
1360 | E>G | No |
ClinGen gnomAD |
|
|
rs1553764531 CA354802358 |
1363 | A>S | No |
ClinGen Ensembl |
|
|
rs750252420 CA2649937 |
1363 | A>V | No |
ClinGen ExAC gnomAD |
|
|
RCV001036237 rs2033268253 |
1366 | P>missing | No |
ClinVar dbSNP |
|
|
CA354802266 rs1194388677 |
1368 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA84726417 rs868817417 |
1368 | R>L | No |
ClinGen Ensembl |
|
|
CA84726431 rs868817417 |
1368 | R>Q | No |
ClinGen Ensembl |
|
| TCGA novel | 1371 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1373 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1377 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA84726410 rs995962169 |
1379 | K>E | No |
ClinGen TOPMed |
|
|
rs763554358 CA2649933 |
1379 | K>R | No |
ClinGen ExAC |
|
| TCGA novel | 1380 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354802001 rs1251431750 |
1380 | D>V | No |
ClinGen gnomAD |
|
|
CA354801924 rs1450754892 |
1383 | F>I | No |
ClinGen gnomAD |
|
|
CA354801923 rs1450754892 |
1383 | F>L | No |
ClinGen gnomAD |
|
|
CA2649910 rs753896390 |
1386 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs994276091 CA16622007 |
1386 | G>V | No |
ClinGen Ensembl |
|
|
CA354801612 rs1258268226 |
1389 | D>G | No |
ClinGen TOPMed |
|
|
rs1355032428 CA354801585 |
1391 | S>G | No |
ClinGen gnomAD |
|
|
rs997626299 CA84725563 |
1392 | F>L | No |
ClinGen TOPMed |
|
| TCGA novel | 1396 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs562594343 CA84725560 |
1397 | L>S | No |
ClinGen 1000Genomes |
|
|
CA354801457 rs1407858661 |
1398 | M>R | No |
ClinGen TOPMed |
|
|
CA2649907 rs752256951 |
1400 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs199851807 CA2649906 |
1401 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1577626924 CA354801306 |
1404 | Y>S | No |
ClinGen Ensembl |
|
|
rs1474267384 CA354801227 |
1406 | A>V | No |
ClinGen gnomAD |
|
|
CA2649903 rs762160435 |
1407 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA354801215 rs762160435 |
1407 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA354801157 rs1311775042 |
1410 | N>S | No |
ClinGen TOPMed |
|
|
CA2649901 rs769216993 |
1412 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs371292374 CA2649900 |
1412 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1274603146 CA354801109 |
1413 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 1418 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs937549949 CA84725503 |
1419 | Y>C | No |
ClinGen Ensembl |
|
|
rs1157989597 CA354800423 |
1424 | L>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1296577123 CA354800397 |
1428 | Y>C | No |
ClinGen gnomAD |
|
|
rs1463156463 CA354800389 |
1429 | D>G | No |
ClinGen TOPMed |
|
|
rs1446285422 CA354800391 |
1429 | D>N | No |
ClinGen gnomAD |
|
|
rs1577620270 CA354800382 |
1430 | C>Y | No |
ClinGen Ensembl |
|
|
CA2649883 rs761263362 |
1432 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA354800359 rs1553763577 |
1433 | M>T | No |
ClinGen Ensembl |
|
|
CA354800349 rs1326317682 |
1434 | E>A | No |
ClinGen gnomAD |
|
|
CA2649882 rs539337477 |
1436 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA354800326 rs1366497648 |
1437 | G>S | No |
ClinGen gnomAD |
|
|
CA2649879 rs774516133 |
1440 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs376890858 CA2649877 |
1449 | H>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
rs755841740 CA2649875 |
1450 | V>I | No |
ClinGen ExAC gnomAD |
|
|
RCV001301702 CA2649874 rs371919176 |
1451 | R>Q | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1304953356 CA354800149 |
1453 | I>V | No |
ClinGen gnomAD |
|
|
rs771086680 CA2649860 |
1463 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs574869903 CA2649859 |
1465 | S>F | No |
ClinGen 1000Genomes ExAC |
|
|
CA354798810 rs1232338477 |
1466 | Q>* | No |
ClinGen gnomAD |
|
|
CA2649856 rs747880325 |
1469 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1482290072 CA354798694 |
1470 | D>N | No |
ClinGen TOPMed |
|
|
rs1482290072 CA354798687 |
1470 | D>Y | No |
ClinGen TOPMed |
|
|
rs1296228170 CA354798632 |
1471 | W>C | No |
ClinGen gnomAD |
|
|
CA84720702 rs941600870 |
1471 | W>G | No |
ClinGen TOPMed |
|
|
CA354798589 rs1251645557 |
1472 | S>F | No |
ClinGen TOPMed |
|
| TCGA novel | 1473 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1175020652 CA354798363 |
1478 | I>V | No |
ClinGen gnomAD |
|
|
CA2649850 rs757878507 |
1482 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs753955358 CA2649848 |
1484 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2649846 rs756879654 |
1485 | S>G | No |
ClinGen ExAC gnomAD |
|
| VAR_041591 | 1488 | A>P | a lung squamous cell carcinoma sample; somatic mutation [UniProt] | No | UniProt |
|
CA354797835 rs1208902382 |
1493 | S>C | No |
ClinGen gnomAD |
|
|
CA2649842 rs146636161 |
1494 | W>L | No |
ClinGen ESP ExAC TOPMed |
|
|
CA2649841 rs752092339 |
1496 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1308989114 CA354797716 |
1498 | L>P | No |
ClinGen gnomAD |
|
|
CA354797715 rs1308989114 |
1498 | L>R | No |
ClinGen gnomAD |
|
| TCGA novel | 1502 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA84719284 rs754602382 |
1503 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2649823 rs755364026 |
1503 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354797187 rs1330914550 |
1504 | H>R | No |
ClinGen TOPMed |
|
|
RCV001313639 CA2649822 rs374342162 |
1504 | H>Y | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
RCV001211916 rs2032704685 |
1506 | L>I | No |
ClinVar dbSNP |
|
|
rs763459447 CA2649821 |
1507 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1276946668 CA354797135 |
1508 | S>N | No |
ClinGen TOPMed |
|
|
rs750473401 CA2649820 |
1509 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1509 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2649819 rs765316638 |
1510 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA2649818 rs761958970 |
1512 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA354797052 rs1346761060 |
1515 | S>N | No |
ClinGen TOPMed |
|
|
CA354797026 rs1161928591 |
1517 | M>T | No |
ClinGen gnomAD |
|
|
rs775209750 RCV001302420 CA2649814 |
1527 | Y>C | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA2649815 rs760453297 |
1527 | Y>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1530 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354796849 rs1207964627 |
1532 | I>M | No |
ClinGen gnomAD |
|
|
RCV001302065 rs2032698151 |
1534 | V>missing | No |
ClinVar dbSNP |
|
|
CA354796814 rs1481927929 |
1536 | V>I | No |
ClinGen Ensembl |
|
|
CA84719225 rs1023153463 |
1538 | L>Q | No |
ClinGen Ensembl |
|
|
rs1441211828 CA354796778 |
1539 | G>D | No |
ClinGen gnomAD |
|
|
CA354796761 rs1397117225 |
1540 | C>F | No |
ClinGen gnomAD |
|
|
rs777561833 CA2649808 |
1542 | Q>P | No |
ClinGen ExAC gnomAD |
|
| rs755543843 | 1543 | E>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1544 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354796682 rs1386387112 |
1547 | E>K | No |
ClinGen gnomAD |
|
|
rs184380561 CA2649788 RCV001239430 |
1550 | A>V | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs747762243 CA2649787 |
1553 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2649786 rs780300351 |
1554 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1313454782 CA354795844 |
1555 | V>G | No |
ClinGen gnomAD |
|
|
CA2649784 rs746399081 |
1557 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2649782 rs757706760 |
1558 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs112726878 CA2649781 |
1559 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs756354361 CA2649780 |
1560 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs886615131 CA84718565 |
1561 | Q>R | No |
ClinGen TOPMed |
|
|
rs1559953159 CA354795712 |
1562 | H>P | No |
ClinGen Ensembl |
|
|
rs1458143142 CA354795672 |
1564 | I>V | No |
ClinGen TOPMed |
|
|
CA84718555 rs1005423503 |
1565 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 1566 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774212021 CA2649776 |
1567 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs929755679 CA84718532 |
1568 | D>G | No |
ClinGen TOPMed |
|
|
rs766350941 CA2649775 |
1568 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs887908433 CA84718530 |
1570 | A>S | No |
ClinGen Ensembl |
|
|
CA2649774 rs762916083 |
1571 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs919679259 CA84718518 |
1578 | T>S | No |
ClinGen TOPMed |
|
|
CA2649772 rs769375698 |
1582 | F>L | No |
ClinGen ExAC |
|
|
CA2649771 rs747848014 |
1584 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA354795442 rs1170027837 |
1584 | M>T | No |
ClinGen TOPMed |
|
|
CA354795384 rs1435279810 |
1589 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1188574425 CA354795378 |
1590 | Q>* | No |
ClinGen gnomAD |
|
|
CA354795338 rs1483924843 |
1592 | A>V | No |
ClinGen gnomAD |
|
|
rs1208958623 CA354795297 |
1595 | K>E | No |
ClinGen gnomAD |
|
|
rs373665227 CA2649769 |
1597 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs187734529 CA2649768 |
1598 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1191143220 CA354795217 |
1598 | A>V | No |
ClinGen gnomAD |
|
|
rs749750765 CA2649766 |
1599 | L>P | No |
ClinGen ExAC gnomAD |
|
|
RCV001295940 rs2032619143 |
1601 | A>V | No |
ClinVar dbSNP |
|
|
rs1317696096 CA354795120 |
1602 | E>K | No |
ClinGen gnomAD |
|
|
CA2649764 rs756155865 |
1604 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1477383361 CA354795021 |
1605 | P>S | No |
ClinGen gnomAD |
|
|
CA2649762 rs781465061 |
1607 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1256858998 CA354794788 |
1614 | V>I | No |
ClinGen TOPMed |
|
|
rs369712804 CA2649760 |
1615 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354794756 rs1450774832 |
1616 | S>L | No |
ClinGen TOPMed |
|
|
rs146667892 CA2649757 |
1617 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354794738 rs1165501581 |
1617 | M>V | No |
ClinGen gnomAD |
|
|
CA2649724 rs775093063 |
1619 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs760429299 CA2649725 |
1619 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1388237726 CA354821052 |
1620 | T>P | No |
ClinGen gnomAD |
|
|
rs1433380980 CA354821022 |
1622 | D>N | No |
ClinGen gnomAD |
|
|
rs771353049 CA2649723 |
1623 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA354820970 rs1382766417 |
1625 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 1626 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1361868884 CA354820904 |
1628 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs763291989 CA2649722 |
1629 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs745782942 CA2649721 |
1631 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2649720 rs143114566 |
1631 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2649719 rs748561484 |
1635 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1431768486 CA354820812 |
1637 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 1638 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2649717 rs768596078 |
1638 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs139876782 CA2649716 |
1641 | L>P | No |
ClinGen ESP ExAC TOPMed |
|
| TCGA novel | 1642 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1216055957 CA354820714 |
1645 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1348702370 CA354820687 |
1647 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs758322712 CA2649714 |
1647 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs758322712 CA84768652 |
1647 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1281809903 CA354820623 |
1652 | T>A | No |
ClinGen TOPMed |
|
| TCGA novel | 1655 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1655 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2649712 rs200547342 |
1655 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA2649711 rs753700872 |
1657 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA354820566 rs763704742 |
1657 | H>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1658 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs956051745 CA84768610 |
1659 | E>G | No |
ClinGen Ensembl |
|
| TCGA novel | 1663 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA84768608 rs984341860 |
1663 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs755576150 CA2649709 |
1665 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs139135398 CA2649708 |
1670 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2649707 rs767171676 |
1672 | H>P | No |
ClinGen ExAC |
|
|
CA354820387 rs767171676 |
1672 | H>R | No |
ClinGen ExAC |
|
|
RCV001295448 rs2032341090 |
1673 | L>F | No |
ClinVar dbSNP |
|
|
CA354820366 rs1479079956 |
1674 | G>E | No |
ClinGen gnomAD |
|
|
CA2649706 rs759120609 |
1674 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs773596047 CA2649705 |
1677 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs373855542 CA2649686 |
1678 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2649684 rs751189648 |
1683 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA354820147 rs1342149589 |
1683 | M>R | No |
ClinGen TOPMed |
|
|
rs1197903798 CA354820135 |
1684 | H>R | No |
ClinGen gnomAD |
|
|
rs370737602 CA2649682 |
1686 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs868345955 CA84766840 |
1690 | A>V | No |
ClinGen Ensembl |
|
|
rs1309474194 RCV001324203 CA354820065 |
1691 | G>R | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA354820058 rs1448553710 |
1692 | V>L | No |
ClinGen gnomAD |
|
|
CA354820044 rs1375119564 |
1693 | S>T | No |
ClinGen gnomAD |
|
|
rs1027616979 CA84766831 |
1696 | R>K | No |
ClinGen Ensembl |
|
|
rs1247137972 CA354819991 |
1698 | A>V | No |
ClinGen TOPMed |
|
|
CA2649679 rs761194898 |
1700 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761194898 CA354819970 |
1700 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1218002128 CA354819891 |
1709 | H>R | No |
ClinGen TOPMed |
|
|
rs769649094 CA2649671 |
1730 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2649672 rs777559107 |
1730 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA2649662 rs761317251 |
1733 | I>S | No |
ClinGen ExAC gnomAD |
|
|
CA354818622 rs1577585296 |
1734 | I>V | No |
ClinGen Ensembl |
|
|
CA354818579 rs2227931 |
1736 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA354818538 rs1386143600 |
1740 | V>L | No |
ClinGen TOPMed |
|
|
CA354818367 rs1487028888 |
1753 | I>T | No |
ClinGen gnomAD |
|
|
CA2649656 rs772903137 |
1754 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs987225178 CA84765650 |
1759 | V>M | No |
ClinGen Ensembl |
|
|
rs1397970951 CA354818262 |
1760 | H>Y | No |
ClinGen gnomAD |
|
|
CA354817402 rs1319044216 |
1764 | S>Y | No |
ClinGen gnomAD |
|
|
rs758533553 CA84763078 |
1767 | T>S | No |
ClinGen Ensembl |
|
|
CA2649641 rs369378664 |
1768 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1559941155 CA354817171 |
1771 | N>K | No |
ClinGen Ensembl |
|
|
rs761581896 CA2649638 |
1772 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761581896 RCV001320424 |
1772 | T>R | No |
ClinVar dbSNP |
|
|
CA354816943 rs1254842804 |
1781 | L>* | No |
ClinGen TOPMed |
|
|
rs1577577944 CA354816840 |
1785 | D>G | No |
ClinGen Ensembl |
|
|
rs1187703801 CA354816794 |
1787 | V>M | No |
ClinGen TOPMed |
|
| TCGA novel | 1788 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354816696 rs1400794830 |
1792 | A>T | No |
ClinGen gnomAD |
|
|
rs376922396 CA2649617 |
1794 | D>G | No |
ClinGen ESP ExAC |
|
|
CA2649615 rs193124641 |
1796 | K>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2649616 rs193124641 |
1796 | K>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1322553029 CA354816433 |
1796 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 1797 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354816404 rs1422842331 |
1798 | T>S | No |
ClinGen TOPMed |
|
|
rs148117747 CA2649614 |
1799 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1419911332 CA354816381 |
1799 | T>S | No |
ClinGen gnomAD |
|
|
CA2649613 rs745396833 |
1801 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA354816297 rs1312287969 |
1803 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA354816245 rs1418821927 |
1806 | Q>* | No |
ClinGen gnomAD |
|
|
RCV001071038 CA2649611 rs541388907 |
1809 | L>F | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA2649610 rs748903337 |
1810 | S>L | No |
ClinGen ExAC gnomAD |
|
| rs1268253442 | 1814 | R>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1268253442 | 1814 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2649609 rs541296140 |
1815 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1489316950 CA354815957 |
1817 | T>R | No |
ClinGen gnomAD |
|
|
rs1328344975 CA354815949 |
1818 | A>T | No |
ClinGen TOPMed |
|
|
CA2649608 rs755335916 |
1820 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA2649607 rs780593003 |
1821 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1299303517 CA354815888 |
1822 | S>P | No |
ClinGen gnomAD |
|
|
CA84762231 rs913478121 |
1824 | K>Q | No |
ClinGen TOPMed |
|
|
CA354815843 rs1273559933 |
1825 | L>P | No |
ClinGen TOPMed |
|
|
CA2649606 rs758772927 |
1826 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs555561075 CA2649605 |
1828 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1282834389 CA354815683 |
1833 | P>R | No |
ClinGen TOPMed |
|
|
CA84762211 rs973960584 |
1838 | S>N | No |
ClinGen Ensembl |
|
|
CA354815550 rs1349614365 |
1841 | R>K | No |
ClinGen TOPMed |
|
|
rs1193702774 CA354815488 |
1844 | Y>H | No |
ClinGen TOPMed |
|
|
rs754030624 CA2649602 |
1846 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs763944655 CA2649601 |
1853 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs149412289 CA2649582 |
1855 | H>P | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1462368280 CA354815035 |
1856 | M>I | No |
ClinGen TOPMed |
|
| TCGA novel | 1859 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354814990 rs1380208283 |
1862 | H>R | No |
ClinGen TOPMed |
|
|
rs1249561796 CA354814978 |
1864 | I>V | No |
ClinGen gnomAD |
|
|
rs1225978822 CA354814966 |
1865 | K>E | No |
ClinGen gnomAD |
|
|
rs1317166906 CA354814962 |
1865 | K>T | No |
ClinGen TOPMed |
|
|
CA354814899 rs1450079064 |
1869 | Q>H | No |
ClinGen gnomAD |
|
|
rs759599412 CA2649578 |
1869 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs2031696803 RCV001228181 |
1870 | H>R | No |
ClinVar dbSNP |
|
|
CA2649577 rs751514043 |
1870 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA2649576 rs766051038 |
1872 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA2649575 rs762535801 |
1873 | G>C | No |
ClinGen ExAC gnomAD |
|
|
RCV001319064 rs2031696073 |
1873 | G>D | No |
ClinVar dbSNP |
|
|
CA354814841 rs1401339049 |
1874 | D>G | No |
ClinGen TOPMed |
|
|
CA84760996 rs943085964 |
1875 | S>I | No |
ClinGen Ensembl |
|
|
CA354814817 rs1394891791 |
1876 | S>C | No |
ClinGen gnomAD |
|
|
rs148475359 CA84760986 |
1880 | S>F | No |
ClinGen Ensembl |
|
|
CA84760962 rs570402298 RCV001324328 |
1884 | V>I | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA354814701 rs761331237 |
1885 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA2649572 rs761331237 |
1885 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs141429029 CA2649571 |
1886 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs1031921536 CA84760938 |
1886 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1248280730 CA354814636 |
1890 | T>I | No |
ClinGen gnomAD |
|
|
rs1248280730 CA354814638 |
1890 | T>S | No |
ClinGen gnomAD |
|
|
rs746443122 CA2649569 |
1893 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs1267037381 CA354814559 |
1896 | A>G | No |
ClinGen TOPMed |
|
|
rs1356414973 CA354814555 |
1897 | K>* | No |
ClinGen gnomAD |
|
|
CA354814521 rs1266744400 |
1898 | E>D | No |
ClinGen gnomAD |
|
|
rs2031690162 RCV001322959 |
1900 | I>T | No |
ClinVar dbSNP |
|
|
rs779380787 CA2649568 |
1900 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs777679157 CA2649565 |
1904 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2649566 rs749374898 |
1904 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA2649564 rs756385595 |
1905 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1328712830 CA354814425 |
1906 | A>T | No |
ClinGen gnomAD |
|
|
rs754812951 CA2649561 |
1909 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA2649560 rs766428193 |
1911 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA2649559 rs762913799 |
1912 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368559821 CA84760425 |
1914 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2649535 rs368559821 RCV001306345 |
1914 | P>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA2649534 rs201445100 |
1915 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1280256998 CA354813978 |
1917 | N>S | No |
ClinGen gnomAD |
|
|
rs773590838 CA2649530 |
1919 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs763557914 CA2649531 |
1919 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766711757 CA2649532 |
1919 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA354813912 rs1325129901 |
1921 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1041099148 CA84760334 |
1922 | E>D | No |
ClinGen TOPMed |
|
|
CA354813785 rs1387954667 |
1929 | R>T | No |
ClinGen gnomAD |
|
|
CA354813773 rs1174152895 |
1930 | V>A | No |
ClinGen gnomAD |
|
|
CA354813646 rs1423713950 |
1936 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2649526 rs776703074 |
1939 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354813562 rs1222426959 |
1940 | A>T | No |
ClinGen TOPMed |
|
|
CA2649524 rs747178249 |
1944 | L>V | No |
ClinGen ExAC |
|
|
rs1472215658 CA354813419 |
1946 | N>S | No |
ClinGen Ensembl |
|
|
CA354813383 rs1390864731 |
1947 | A>G | No |
ClinGen gnomAD |
|
|
CA2649523 rs780043510 |
1949 | E>K | No |
ClinGen ExAC |
|
|
CA2649522 rs758234545 |
1951 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs745882886 CA2649521 |
1951 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745882886 CA84760301 |
1951 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354813044 rs1338857982 |
1958 | E>D | No |
ClinGen gnomAD |
|
|
rs1473705248 CA354813033 |
1959 | R>S | No |
ClinGen TOPMed |
|
|
rs1454824065 CA354813007 |
1961 | K>R | No |
ClinGen gnomAD |
|
|
rs1306647370 CA354812956 |
1962 | W>C | No |
ClinGen Ensembl |
|
|
rs1175327942 CA354812944 |
1963 | L>R | No |
ClinGen TOPMed |
|
|
rs376314540 CA2649517 |
1965 | S>C | No |
ClinGen ESP ExAC TOPMed |
|
|
CA354812885 rs376314540 |
1965 | S>F | No |
ClinGen ESP ExAC TOPMed |
|
|
CA84760188 rs904443343 |
1966 | K>Q | No |
ClinGen Ensembl |
|
|
rs371240239 CA2649447 |
1967 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1410680530 CA354811935 |
1968 | D>Y | No |
ClinGen gnomAD |
|
|
rs1175958154 CA354811919 |
1969 | V>I | No |
ClinGen gnomAD |
|
|
CA354811891 rs1313130618 |
1971 | Q>* | No |
ClinGen TOPMed |
|
|
CA84757326 rs182535875 |
1972 | A>T | No |
ClinGen 1000Genomes |
|
|
CA84757325 rs930343938 |
1974 | I>M | No |
ClinGen TOPMed |
|
|
rs1577564030 CA354811770 |
1981 | E>G | No |
ClinGen Ensembl |
|
|
CA354811746 rs1247350233 |
1983 | C>Y | No |
ClinGen gnomAD |
|
|
rs1224740867 CA354811735 |
1984 | F>I | No |
ClinGen gnomAD |
|
|
rs1489889265 CA354811729 |
1984 | F>S | No |
ClinGen gnomAD |
|
|
CA354811638 rs1317262144 |
1989 | T>I | No |
ClinGen gnomAD |
|
|
CA354811622 rs757634741 |
1991 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1409107745 CA354811590 |
1994 | K>E | No |
ClinGen gnomAD |
|
|
rs1221995194 CA354811579 |
1994 | K>N | No |
ClinGen gnomAD |
|
|
CA354811584 rs1223617404 |
1994 | K>R | No |
ClinGen TOPMed |
|
|
rs1038973468 CA84757291 |
1995 | N>K | No |
ClinGen TOPMed |
|
|
rs1372461108 CA354811558 |
1996 | M>L | No |
ClinGen gnomAD |
|
|
CA2649440 rs764703895 |
1999 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs756650966 CA354811493 |
2001 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756650966 CA2649439 |
2001 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| VAR_041594 | 2002 | A>G | a lung adenocarcinoma sample; somatic mutation [UniProt] | No | UniProt |
|
CA2649438 rs752846659 |
2002 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs374253623 CA84757227 |
2007 | G>S | No |
ClinGen ESP TOPMed |
|
|
CA2649437 rs148465901 |
2008 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA354811343 rs1418875255 |
2011 | E>* | No |
ClinGen gnomAD |
|
| TCGA novel | 2011 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766149533 CA2649434 |
2012 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2013 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 2021 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs34576460 | 2024 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354809833 rs1205477740 |
2027 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs763117426 CA2649414 |
2027 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA2649412 rs201091477 |
2030 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2649411 rs201091477 |
2030 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs755650081 CA2649410 |
2030 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs746541119 CA2649408 |
2033 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774824076 CA2649407 |
2034 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1278824537 CA354809740 |
2041 | Y>H | No |
ClinGen gnomAD |
|
|
rs1198824448 CA354809720 |
2044 | K>Q | No |
ClinGen TOPMed |
|
|
rs769993474 CA84750965 |
2047 | D>N | No |
ClinGen gnomAD |
|
|
rs752284490 CA2649404 |
2048 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1463550758 CA354809671 |
2050 | M>R | No |
ClinGen gnomAD |
|
|
rs1371461702 CA354809665 |
2051 | P>S | No |
ClinGen gnomAD |
|
|
rs1385622581 CA354809590 |
2056 | N>S | No |
ClinGen gnomAD |
|
|
CA2649401 rs781731121 |
2062 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA2649400 rs755377625 |
2063 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1045320399 CA84750886 |
2067 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
rs140633834 CA2649396 RCV001230635 |
2069 | V>I | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA354809277 rs1330121617 |
2073 | G>S | No |
ClinGen gnomAD |
|
|
CA354809269 rs1282142308 |
2073 | G>V | No |
ClinGen TOPMed |
|
|
rs1183951151 RCV001312752 CA354806108 |
2078 | Y>H | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs988446074 CA84733824 |
2081 | Q>* | No |
ClinGen Ensembl |
|
|
CA354805985 rs1423459834 |
2083 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 2084 | Y>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354805834 rs1480463477 |
2087 | M>I | No |
ClinGen gnomAD |
|
|
CA84733812 rs1032148842 |
2089 | R>Q | No |
ClinGen Ensembl |
|
|
rs1270466103 CA354805794 |
2090 | M>T | No |
ClinGen gnomAD |
|
|
CA2649374 rs574382204 |
2092 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1284540258 CA354805622 |
2097 | Y>C | No |
ClinGen gnomAD |
|
|
CA354805614 rs1207198105 |
2098 | G>S | No |
ClinGen gnomAD |
|
|
CA84733797 rs1017810017 |
2103 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA354805529 rs1268002547 |
2104 | W>* | No |
ClinGen gnomAD |
|
| TCGA novel | 2107 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2649352 rs777692201 |
2107 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs992892174 CA84733481 |
2108 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA354805424 rs1428929854 |
2108 | G>S | No |
ClinGen gnomAD |
|
|
rs910993590 CA84733480 |
2109 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA2649351 rs755849743 |
2109 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA2649349 rs767568796 |
2110 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA2649348 rs751140070 |
2110 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2649347 rs751140070 |
2110 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1169255490 CA354805375 |
2112 | R>C | No |
ClinGen gnomAD |
|
|
CA2649345 rs535888898 |
2112 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs191588404 CA84733407 |
2113 | V>I | No |
ClinGen 1000Genomes gnomAD |
|
|
CA354805367 RCV001338098 rs191588404 |
2113 | V>L | No |
ClinGen ClinVar 1000Genomes dbSNP gnomAD |
|
|
CA354805300 rs1241780511 |
2117 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs35134774 VAR_041595 CA84733395 |
2120 | G>A | No |
ClinGen UniProt dbSNP gnomAD |
|
|
rs1341655239 CA354805181 |
2125 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA354805185 rs1341655239 |
2125 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA354805182 rs1341655239 |
2125 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2649342 rs370244617 |
2126 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs772899026 CA84733386 |
2128 | E>* | No |
ClinGen Ensembl |
|
|
rs772598840 CA2649341 |
2129 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772598840 CA84733385 |
2129 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354805053 rs1447253574 |
2132 | Y>C | No |
ClinGen gnomAD |
|
|
CA354805006 rs1407717818 |
2135 | P>R | No |
ClinGen gnomAD |
|
|
CA354805011 rs1472375950 |
2135 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 2139 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 2139 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770913815 CA2649339 |
2139 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA2649338 rs749583826 |
2140 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA354804775 rs1455160611 |
2148 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA354804773 rs1470834016 |
2148 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 2150 | C>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354804719 rs1170670205 |
2151 | H>P | No |
ClinGen TOPMed |
|
|
rs747991579 CA2649335 |
2153 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA2649333 rs202193482 |
2154 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2649331 rs765977826 RCV001232454 |
2158 | V>F | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA2649330 rs538022321 |
2161 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1281243044 CA354804520 |
2162 | E>D | No |
ClinGen gnomAD |
|
|
rs1164077204 CA354804517 |
2163 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA354804499 rs1288613889 |
2165 | A>T | No |
ClinGen TOPMed |
|
|
rs1337844230 CA354804456 |
2166 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1001744737 CA84733276 |
2170 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs749889023 CA2649329 |
2176 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs764800468 CA2649328 |
2177 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA354804155 rs1577512199 |
2179 | M>I | No |
ClinGen Ensembl |
|
|
rs761413740 CA2649327 |
2181 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs775855698 CA2649326 |
2184 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs759909672 CA2649299 |
2189 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA84732358 rs866304619 |
2190 | R>C | No |
ClinGen Ensembl |
|
|
CA2649298 rs751887452 |
2190 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA2649296 rs763471890 |
2193 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1309960275 CA354803721 |
2196 | E>Q | No |
ClinGen gnomAD |
|
|
rs1559911920 CA354803600 |
2202 | I>M | No |
ClinGen Ensembl |
|
|
CA2649294 rs769959479 |
2202 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2649293 rs568854977 |
2204 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 2204 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1364520239 CA354803580 |
2204 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 2206 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354803544 rs1434832351 |
2207 | S>C | No |
ClinGen gnomAD |
|
|
CA354803524 rs1339292607 |
2209 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 2212 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2649291 rs768939949 |
2214 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1377176683 CA354803410 |
2216 | T>I | No |
ClinGen gnomAD |
|
|
rs1171389652 CA354803405 |
2217 | R>C | No |
ClinGen gnomAD |
|
|
CA84732317 rs1016549769 |
2218 | L>P | No |
ClinGen TOPMed |
|
|
rs1245616480 CA354803361 |
2221 | K>T | No |
ClinGen TOPMed |
|
|
rs141464709 CA2649289 |
2223 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs112373905 CA2649288 |
2229 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
| TCGA novel | 2230 | V>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2649275 rs750933906 |
2231 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA84731404 rs370107362 |
2232 | G>V | No |
ClinGen ESP TOPMed |
|
| VAR_041597 | 2233 | S>I | a lung large cell carcinoma sample; somatic mutation [UniProt] | No | UniProt |
|
rs1189529107 CA354802294 |
2234 | S>R | No |
ClinGen gnomAD |
|
|
CA354802205 rs1577507666 |
2239 | M>I | No |
ClinGen Ensembl |
|
|
CA354802221 rs1422047817 |
2239 | M>V | No |
ClinGen gnomAD |
|
|
CA2649274 rs765461897 |
2240 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1177234608 CA354802172 |
2241 | T>I | No |
ClinGen gnomAD |
|
|
CA354802133 rs1258388197 |
2244 | K>R | No |
ClinGen TOPMed |
|
|
rs577202727 CA2649271 |
2245 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2649270 rs760902300 |
2252 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1452305050 CA354801904 |
2254 | T>A | No |
ClinGen Ensembl |
|
| TCGA novel | 2263 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2649268 rs771869169 |
2268 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2269 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2649267 rs745851505 |
2269 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs768053929 CA84731325 |
2272 | S>* | No |
ClinGen Ensembl |
|
|
CA354801594 rs1425608931 |
2273 | I>M | No |
ClinGen gnomAD |
|
|
CA2649264 rs748830601 |
2273 | I>T | No |
ClinGen ExAC |
|
|
rs374965906 RCV001316317 CA2649265 |
2273 | I>V | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA354801553 rs1577507480 |
2275 | G>V | No |
ClinGen Ensembl |
|
|
CA2649263 rs777219248 |
2276 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA354801551 rs1577507470 |
2276 | T>P | No |
ClinGen Ensembl |
|
|
CA2649262 rs755816195 |
2277 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747809654 CA2649261 |
2278 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1473269172 CA354801465 |
2280 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1180984060 CA354801278 |
2289 | H>R | No |
ClinGen gnomAD |
|
|
CA354801233 rs1479311957 |
2291 | A>T | No |
ClinGen gnomAD |
|
|
rs370379866 CA2649257 |
2294 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354801134 rs370379866 |
2294 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354801116 rs1356122926 |
2294 | A>V | No |
ClinGen gnomAD |
|
|
CA354801095 rs1160602567 |
2295 | G>E | No |
ClinGen TOPMed |
|
|
CA2649256 rs765841764 |
2298 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs868525097 CA84730256 |
2304 | A>S | No |
ClinGen Ensembl |
|
|
rs757887087 CA2649235 |
2305 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA84730253 rs62276424 |
2307 | Q>* | No |
ClinGen Ensembl |
|
|
rs1437009847 CA354800760 |
2311 | K>E | No |
ClinGen gnomAD |
|
|
rs1446847444 CA354800732 |
2313 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs879236313 CA84730242 |
2315 | K>N | No |
ClinGen Ensembl |
|
|
CA2649234 rs754365299 |
2316 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA2649232 rs756232416 |
2319 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA2649230 rs180819393 |
2323 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2649229 rs751402056 |
2324 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs906338505 CA84730197 |
2324 | M>L | No |
ClinGen TOPMed |
|
|
rs188177105 CA84730193 |
2325 | M>I | No |
ClinGen 1000Genomes |
|
|
CA354800611 rs1448080174 |
2326 | C>F | No |
ClinGen gnomAD |
|
|
rs766127973 CA2649228 |
2326 | C>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA354800512 rs1199952289 |
2339 | M>I | No |
ClinGen gnomAD |
|
|
RCV001351659 rs2071097924 |
2345 | I>V | No |
ClinVar dbSNP |
|
|
rs752843358 CA2649212 |
2350 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA2649210 rs781107518 |
2354 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs755264430 CA2649209 |
2356 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2649208 rs751772547 |
2356 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 2359 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs563750598 CA2649207 |
2361 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs868378229 CA84728264 |
2363 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA2649206 rs142918229 |
2363 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2649205 rs750155648 |
2365 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776255209 CA2649202 |
2382 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2649200 rs760472585 |
2384 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs768021755 CA2649201 |
2384 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs775268793 CA2649199 |
2389 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA84728154 rs568255965 |
2391 | T>I | No |
ClinGen Ensembl |
|
|
rs1287616960 CA354799164 |
2392 | K>Q | No |
ClinGen gnomAD |
|
|
CA2649198 rs771783747 |
2395 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2399 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758671096 CA2649170 |
2400 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA354798298 rs1577497346 |
2403 | G>E | No |
ClinGen Ensembl |
|
|
rs746049210 CA2649169 |
2407 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA354797993 rs1233586936 |
2410 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1345846388 CA354797924 |
2412 | P>Q | No |
ClinGen gnomAD |
|
|
rs756990664 CA2649168 |
2418 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2649167 rs753611213 |
2420 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1211640581 CA354797697 |
2421 | L>F | No |
ClinGen gnomAD |
|
|
CA84726507 rs909033162 |
2422 | K>R | No |
ClinGen TOPMed |
|
|
CA2649166 rs756065629 |
2427 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA2649163 rs759327414 |
2431 | R>M | No |
ClinGen ExAC gnomAD |
|
|
CA2649162 CA354797378 rs773858387 |
2431 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1304591618 CA354797348 |
2432 | H>R | No |
ClinGen gnomAD |
|
|
CA84726485 rs1029034437 |
2433 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1430130909 CA354796619 |
2437 | H>R | No |
ClinGen TOPMed gnomAD |
|
| VAR_041600 | 2438 | E>K | a breast pleomorphic lobular carcinoma sample; somatic mutation [UniProt] | No | UniProt |
|
rs1031690432 CA84726469 |
2438 | E>V | No |
ClinGen TOPMed |
|
|
rs113377909 CA84726467 |
2440 | F>L | No |
ClinGen Ensembl |
|
|
rs2070973168 RCV001321047 |
2443 | T>A | No |
ClinVar dbSNP |
|
|
rs1015400677 CA84726461 |
2449 | S>L | No |
ClinGen Ensembl |
|
|
rs765983327 CA2649144 |
2451 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA354796389 rs1182283354 |
2452 | S>C | No |
ClinGen gnomAD |
|
|
rs1182283354 CA354796393 |
2452 | S>G | No |
ClinGen gnomAD |
|
|
rs1419293294 CA354796341 |
2455 | S>T | No |
ClinGen gnomAD |
|
|
CA2649142 rs762621866 RCV001237848 |
2459 | R>C | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs754253403 CA2649141 |
2459 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA354796193 rs1577496774 |
2466 | M>I | No |
ClinGen Ensembl |
|
|
rs761240123 CA2649139 |
2468 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs200700656 CA84726197 |
2471 | L>P | No |
ClinGen 1000Genomes |
|
|
RCV001063600 CA2649137 rs150286172 |
2471 | L>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs376735982 CA354796065 |
2476 | R>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs940571167 CA84726132 |
2481 | I>T | No |
ClinGen TOPMed |
|
|
CA354796025 rs1212649889 |
2482 | L>V | No |
ClinGen TOPMed |
|
|
rs1253293317 CA354796019 |
2483 | F>L | No |
ClinGen TOPMed |
|
|
rs947466947 CA84726128 |
2483 | F>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 2485 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354795977 rs1159204278 |
2486 | L>S | No |
ClinGen gnomAD |
|
|
rs1473297786 CA354795946 |
2488 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 2495 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2649129 rs373093280 |
2496 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA84724962 rs928417003 |
2502 | G>* | No |
ClinGen Ensembl |
|
|
rs1041481511 CA84724960 |
2503 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 2504 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354795474 rs1344180325 |
2508 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA2649104 rs151162347 |
2514 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2649102 rs767892437 |
2517 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs372898565 CA2649100 |
2520 | V>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2649099 rs766734738 |
2521 | N>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2529 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs914247885 CA84724925 |
2530 | G>S | No |
ClinGen Ensembl |
|
|
rs1196005889 CA354794989 |
2533 | R>* | No |
ClinGen TOPMed |
|
|
CA2649098 rs763127779 |
2533 | R>Q | No |
ClinGen ExAC gnomAD |
|
| VAR_041601 | 2537 | E>Q | a breast infiltrating ductal carcinoma sample; somatic mutation [UniProt] | No | UniProt |
|
rs915275959 CA84724900 |
2540 | M>I | No |
ClinGen TOPMed |
|
|
CA354794709 rs1193437141 |
2544 | R>C | No |
ClinGen TOPMed |
|
|
rs769121210 CA84724880 |
2544 | R>H | No |
ClinGen gnomAD |
|
|
CA354794660 rs1254296505 |
2547 | R>* | No |
ClinGen gnomAD |
|
|
rs1210518431 CA354794652 |
2547 | R>L | No |
ClinGen gnomAD |
|
| TCGA novel | 2551 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2649093 rs768497377 |
2551 | M>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2559 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1206972227 CA354794202 |
2559 | H>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs762196224 CA2649075 RCV001307459 |
2575 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs911475726 CA84721705 |
2576 | P>S | No |
ClinGen Ensembl |
|
|
CA354794077 rs1350687705 |
2577 | L>R | No |
ClinGen gnomAD |
|
|
CA354794070 rs1440426009 |
2578 | N>K | No |
ClinGen gnomAD |
|
| TCGA novel | 2582 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1159372434 CA354794026 |
2585 | N>Y | No |
ClinGen TOPMed |
|
|
CA354794007 rs1408393470 |
2587 | K>M | No |
ClinGen TOPMed |
|
|
CA354793990 rs1193847387 |
2588 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 2590 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1227410272 CA354793954 |
2594 | D>H | No |
ClinGen gnomAD |
|
| TCGA novel | 2594 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768358025 CA2649028 |
2596 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1314855850 CA354793923 |
2598 | R>Q | No |
ClinGen gnomAD |
|
|
rs2070733957 RCV001237660 |
2601 | G>D | No |
ClinVar dbSNP |
|
|
rs771519566 CA2649025 |
2604 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA2649024 rs749753899 |
2606 | R>* | No |
ClinGen ExAC |
|
|
CA354793866 rs1315255360 |
2607 | N>K | No |
ClinGen TOPMed |
|
|
CA354793861 rs1349108610 |
2608 | R>K | No |
ClinGen TOPMed |
|
|
CA84718564 rs1034620994 |
2613 | P>L | No |
ClinGen Ensembl |
|
|
RCV001344652 rs781420658 CA2649019 |
2620 | V>M | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1802904 CA354793747 |
2625 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 2627 | A>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2649017 rs112027460 |
2627 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1279843589 CA354793734 |
2627 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA2649016 rs758432141 |
2629 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs765167556 CA2649014 |
2631 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs1489068438 CA354793699 |
2632 | L>F | No |
ClinGen gnomAD |
|
|
rs1804758 CA84718508 |
2634 | C>Y | No |
ClinGen Ensembl |
|
|
CA354793673 rs1259374276 |
2636 | M>R | No |
ClinGen TOPMed |
|
| TCGA novel | 2638 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1227304374 CA354793649 |
2640 | W>R | No |
ClinGen gnomAD |
|
| TCGA novel | 2641 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774898136 CA2649009 |
2643 | Y>D | No |
ClinGen ExAC |
|
| TCGA novel | 2645 | M>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
2 associated diseases with Q13535
[MIM: 210600]: Seckel syndrome 1 (SCKL1)
A rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and intellectual disability. {ECO:0000269|PubMed:12640452}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 614564]: Cutaneous telangiectasia and cancer syndrome, familial (FCTCS)
A disease characterized by cutaneous telangiectases in infancy with patchy alopecia over areas of affected skin, thinning of the lateral eyebrows, and mild dental and nail anomalies. Affected individuals are at increased risk of developing oropharyngeal cancer, and other malignancies have been reported as well. {ECO:0000269|PubMed:22341969}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and intellectual disability. {ECO:0000269|PubMed:12640452}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A disease characterized by cutaneous telangiectases in infancy with patchy alopecia over areas of affected skin, thinning of the lateral eyebrows, and mild dental and nail anomalies. Affected individuals are at increased risk of developing oropharyngeal cancer, and other malignancies have been reported as well. {ECO:0000269|PubMed:22341969}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for Q13535
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q13535 | |||
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.11.1 | Protein-serine/threonine kinases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| ATR-ATRIP complex | A protein complex that contains the protein kinase ATR and ATR-interacting protein (ATRIP) and binds single-stranded DNA; ssDNA binding affinity is increased in the presence of replication protein A. |
| chromosome | A structure composed of a very long molecule of DNA and associated proteins (e.g. histones) that carries hereditary information. |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| 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. |
| PML body | A class of nuclear body; they react against SP100 auto-antibodies (PML, promyelocytic leukemia); cells typically contain 10-30 PML bodies per nucleus; alterations in the localization of PML bodies occurs after viral infection. |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| DNA binding | Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid). |
| MutLalpha complex binding | Binding to a MutLalpha mismatch repair complex. |
| MutSalpha complex binding | Binding to a MutSalpha mismatch repair complex. |
| protein kinase activity | Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP. |
| protein serine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate. |
| protein serine/threonine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate. |
25 GO annotations of biological process
| Name | Definition |
|---|---|
| cellular response to DNA damage stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from environmental insults or errors during metabolism. |
| cellular response to gamma radiation | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a gamma radiation stimulus. Gamma radiation is a form of electromagnetic radiation (EMR) or light emission of a specific frequency produced from sub-atomic particle interaction, such as electron-positron annihilation and radioactive decay. Gamma rays are generally characterized as EMR having the highest frequency and energy, and also the shortest wavelength, within the electromagnetic radiation spectrum. |
| cellular response to UV | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers. |
| DNA damage checkpoint signaling | A signal transduction process that contributes to a DNA damage checkpoint. |
| DNA repair | The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway. |
| DNA replication | The cellular metabolic process in which a cell duplicates one or more molecules of DNA. DNA replication begins when specific sequences, known as origins of replication, are recognized and bound by initiation proteins, and ends when the original DNA molecule has been completely duplicated and the copies topologically separated. The unit of replication usually corresponds to the genome of the cell, an organelle, or a virus. The template for replication can either be an existing DNA molecule or RNA. |
| establishment of protein-containing complex localization to telomere | The directed movement of a protein-containing macromolecular complex to a specific location in the telomeric region of a chromosome. |
| establishment of RNA localization to telomere | The directed movement of RNA to a specific location in the telomeric region of a chromosome. |
| interstrand cross-link repair | Removal of a DNA interstrand crosslink (a covalent attachment of DNA bases on opposite strands of the DNA) and restoration of the DNA. DNA interstrand crosslinks occur when both strands of duplex DNA are covalently tethered together (e.g. by an exogenous or endogenous agent), thus preventing the strand unwinding necessary for essential DNA functions such as transcription and replication. |
| negative regulation of DNA replication | Any process that stops, prevents, or reduces the frequency, rate or extent of DNA replication. |
| nucleobase-containing compound metabolic process | Any cellular metabolic process involving nucleobases, nucleosides, nucleotides and nucleic acids. |
| peptidyl-serine phosphorylation | The phosphorylation of peptidyl-serine to form peptidyl-O-phospho-L-serine. |
| positive regulation of DNA damage response, signal transduction by p53 class mediator | Any process that activates, maintains or increases the rate of the cascade of processes induced by the cell cycle regulator phosphoprotein p53, or an equivalent protein, in response to the detection of DNA damage. |
| positive regulation of telomerase catalytic core complex assembly | Any process that activates or increases the frequency, rate or extent of telomerase catalytic core complex assembly. |
| positive regulation of telomere maintenance via telomerase | Any process that activates or increases the frequency, rate or extent of the addition of telomeric repeats by telomerase. |
| protein autophosphorylation | The phosphorylation by a protein of one or more of its own amino acid residues (cis-autophosphorylation), or residues on an identical protein (trans-autophosphorylation). |
| protein localization to chromosome, telomeric region | Any process in which a protein is transported to, or maintained at, the telomeric region of a chromosome. |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
| regulation of cellular response to heat | Any process that modulates the frequency, rate or extent of cellular response to heat. |
| regulation of double-strand break repair | Any process that modulates the frequency, rate or extent of double-strand break repair. |
| replication fork processing | The process in which a DNA replication fork that has stalled is restored to a functional state and replication is restarted. The stalling may be due to DNA damage, DNA secondary structure, bound proteins, dNTP shortage, or other causes. |
| replicative senescence | A cell aging process associated with the dismantling of a cell as a response to telomere shortening and/or cellular aging. |
| response to arsenic-containing substance | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an arsenic stimulus from compounds containing arsenic, including arsenates, arsenites, and arsenides. |
| response to xenobiotic stimulus | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a xenobiotic, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical. |
| telomere maintenance | Any process that contributes to the maintenance of proper telomeric length and structure by affecting and monitoring the activity of telomeric proteins, the length of telomeric DNA and the replication and repair of the DNA. These processes includes those that shorten, lengthen, replicate and repair the telomeric DNA sequences. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9JKK8 | Atr | Serine/threonine-protein kinase ATR | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGEHGLELAS | MIPALRELGS | ATPEEYNTVV | QKPRQILCQF | IDRILTDVNV | VAVELVKKTD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SQPTSVMLLD | FIQHIMKSSP | LMFVNVSGSH | EAKGSCIEFS | NWIITRLLRI | AATPSCHLLH |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KKICEVICSL | LFLFKSKSPA | IFGVLTKELL | QLFEDLVYLH | RRNVMGHAVE | WPVVMSRFLS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QLDEHMGYLQ | SAPLQLMSMQ | NLEFIEVTLL | MVLTRIIAIV | FFRRQELLLW | QIGCVLLEYG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SPKIKSLAIS | FLTELFQLGG | LPAQPASTFF | SSFLELLKHL | VEMDTDQLKL | YEEPLSKLIK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TLFPFEAEAY | RNIEPVYLNM | LLEKLCVMFE | DGVLMRLKSD | LLKAALCHLL | QYFLKFVPAG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| YESALQVRKV | YVRNICKALL | DVLGIEVDAE | YLLGPLYAAL | KMESMEIIEE | IQCQTQQENL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SSNSDGISPK | RRRLSSSLNP | SKRAPKQTEE | IKHVDMNQKS | ILWSALKQKA | ESLQISLEYS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| GLKNPVIEML | EGIAVVLQLT | ALCTVHCSHQ | NMNCRTFKDC | QHKSKKKPSV | VITWMSLDFY |
| 550 | 560 | 570 | 580 | 590 | 600 |
| TKVLKSCRSL | LESVQKLDLE | ATIDKVVKIY | DALIYMQVNS | SFEDHILEDL | CGMLSLPWIY |
| 610 | 620 | 630 | 640 | 650 | 660 |
| SHSDDGCLKL | TTFAANLLTL | SCRISDSYSP | QAQSRCVFLL | TLFPRRIFLE | WRTAVYNWAL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| QSSHEVIRAS | CVSGFFILLQ | QQNSCNRVPK | ILIDKVKDDS | DIVKKEFASI | LGQLVCTLHG |
| 730 | 740 | 750 | 760 | 770 | 780 |
| MFYLTSSLTE | PFSEHGHVDL | FCRNLKATSQ | HECSSSQLKA | SVCKPFLFLL | KKKIPSPVKL |
| 790 | 800 | 810 | 820 | 830 | 840 |
| AFIDNLHHLC | KHLDFREDET | DVKAVLGTLL | NLMEDPDKDV | RVAFSGNIKH | ILESLDSEDG |
| 850 | 860 | 870 | 880 | 890 | 900 |
| FIKELFVLRM | KEAYTHAQIS | RNNELKDTLI | LTTGDIGRAA | KGDLVPFALL | HLLHCLLSKS |
| 910 | 920 | 930 | 940 | 950 | 960 |
| ASVSGAAYTE | IRALVAAKSV | KLQSFFSQYK | KPICQFLVES | LHSSQMTALP | NTPCQNADVR |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| KQDVAHQREM | ALNTLSEIAN | VFDFPDLNRF | LTRTLQVLLP | DLAAKASPAA | SALIRTLGKQ |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| LNVNRREILI | NNFKYIFSHL | VCSCSKDELE | RALHYLKNET | EIELGSLLRQ | DFQGLHNELL |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| LRIGEHYQQV | FNGLSILASF | ASSDDPYQGP | RDIISPELMA | DYLQPKLLGI | LAFFNMQLLS |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| SSVGIEDKKM | ALNSLMSLMK | LMGPKHVSSV | RVKMMTTLRT | GLRFKDDFPE | LCCRAWDCFV |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| RCLDHACLGS | LLSHVIVALL | PLIHIQPKET | AAIFHYLIIE | NRDAVQDFLH | EIYFLPDHPE |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| LKKIKAVLQE | YRKETSESTD | LQTTLQLSMK | AIQHENVDVR | IHALTSLKET | LYKNQEKLIK |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| YATDSETVEP | IISQLVTVLL | KGCQDANSQA | RLLCGECLGE | LGAIDPGRLD | FSTTETQGKD |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| FTFVTGVEDS | SFAYGLLMEL | TRAYLAYADN | SRAQDSAAYA | IQELLSIYDC | REMETNGPGH |
| 1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
| QLWRRFPEHV | REILEPHLNT | RYKSSQKSTD | WSGVKKPIYL | SKLGSNFAEW | SASWAGYLIT |
| 1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
| KVRHDLASKI | FTCCSIMMKH | DFKVTIYLLP | HILVYVLLGC | NQEDQQEVYA | EIMAVLKHDD |
| 1570 | 1580 | 1590 | 1600 | 1610 | 1620 |
| QHTINTQDIA | SDLCQLSTQT | VFSMLDHLTQ | WARHKFQALK | AEKCPHSKSN | RNKVDSMVST |
| 1630 | 1640 | 1650 | 1660 | 1670 | 1680 |
| VDYEDYQSVT | RFLDLIPQDT | LAVASFRSKA | YTRAVMHFES | FITEKKQNIQ | EHLGFLQKLY |
| 1690 | 1700 | 1710 | 1720 | 1730 | 1740 |
| AAMHEPDGVA | GVSAIRKAEP | SLKEQILEHE | SLGLLRDATA | CYDRAIQLEP | DQIIHYHGVV |
| 1750 | 1760 | 1770 | 1780 | 1790 | 1800 |
| KSMLGLGQLS | TVITQVNGVH | ANRSEWTDEL | NTYRVEAAWK | LSQWDLVENY | LAADGKSTTW |
| 1810 | 1820 | 1830 | 1840 | 1850 | 1860 |
| SVRLGQLLLS | AKKRDITAFY | DSLKLVRAEQ | IVPLSAASFE | RGSYQRGYEY | IVRLHMLCEL |
| 1870 | 1880 | 1890 | 1900 | 1910 | 1920 |
| EHSIKPLFQH | SPGDSSQEDS | LNWVARLEMT | QNSYRAKEPI | LALRRALLSL | NKRPDYNEMV |
| 1930 | 1940 | 1950 | 1960 | 1970 | 1980 |
| GECWLQSARV | ARKAGHHQTA | YNALLNAGES | RLAELYVERA | KWLWSKGDVH | QALIVLQKGV |
| 1990 | 2000 | 2010 | 2020 | 2030 | 2040 |
| ELCFPENETP | PEGKNMLIHG | RAMLLVGRFM | EETANFESNA | IMKKYKDVTA | CLPEWEDGHF |
| 2050 | 2060 | 2070 | 2080 | 2090 | 2100 |
| YLAKYYDKLM | PMVTDNKMEK | QGDLIRYIVL | HFGRSLQYGN | QFIYQSMPRM | LTLWLDYGTK |
| 2110 | 2120 | 2130 | 2140 | 2150 | 2160 |
| AYEWEKAGRS | DRVQMRNDLG | KINKVITEHT | NYLAPYQFLT | AFSQLISRIC | HSHDEVFVVL |
| 2170 | 2180 | 2190 | 2200 | 2210 | 2220 |
| MEIIAKVFLA | YPQQAMWMMT | AVSKSSYPMR | VNRCKEILNK | AIHMKKSLEK | FVGDATRLTD |
| 2230 | 2240 | 2250 | 2260 | 2270 | 2280 |
| KLLELCNKPV | DGSSSTLSMS | THFKMLKKLV | EEATFSEILI | PLQSVMIPTL | PSILGTHANH |
| 2290 | 2300 | 2310 | 2320 | 2330 | 2340 |
| ASHEPFPGHW | AYIAGFDDMV | EILASLQKPK | KISLKGSDGK | FYIMMCKPKD | DLRKDCRLME |
| 2350 | 2360 | 2370 | 2380 | 2390 | 2400 |
| FNSLINKCLR | KDAESRRREL | HIRTYAVIPL | NDECGIIEWV | NNTAGLRPIL | TKLYKEKGVY |
| 2410 | 2420 | 2430 | 2440 | 2450 | 2460 |
| MTGKELRQCM | LPKSAALSEK | LKVFREFLLP | RHPPIFHEWF | LRTFPDPTSW | YSSRSAYCRS |
| 2470 | 2480 | 2490 | 2500 | 2510 | 2520 |
| TAVMSMVGYI | LGLGDRHGEN | ILFDSLTGEC | VHVDFNCLFN | KGETFEVPEI | VPFRLTHNMV |
| 2530 | 2540 | 2550 | 2560 | 2570 | 2580 |
| NGMGPMGTEG | LFRRACEVTM | RLMRDQREPL | MSVLKTFLHD | PLVEWSKPVK | GHSKAPLNET |
| 2590 | 2600 | 2610 | 2620 | 2630 | 2640 |
| GEVVNEKAKT | HVLDIEQRLQ | GVIKTRNRVT | GLPLSIEGHV | HYLIQEATDE | NLLCQMYLGW |
| TPYM |