Q969F9
PR
Gene name |
HPS3 |
Protein name |
BLOC-2 complex member HPS3 |
Names |
Hermansky-Pudlak syndrome 3 protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:84343 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q969F9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q969F9-F1 | Predicted | AlphaFoldDB |
866 variants for Q969F9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA2659696 RCV000852039 rs753185316 RCV001855733 |
5 | Y>* | Hermansky-Pudlak syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001058293 RCV000672579 rs1553750083 |
30 | R>missing | Hermansky-Pudlak syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA354906559 RCV000851675 rs1553750097 |
42 | E>* | Hermansky-Pudlak syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001145877 rs779631326 RCV001858957 CA2659719 |
44 | F>L | Hermansky-Pudlak syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs199663930 RCV000353344 RCV001275833 RCV000889434 CA2659727 |
53 | Q>R | Hermansky-Pudlak syndrome Hermansky-Pudlak syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs529838933 RCV001833467 RCV001372061 CA2659736 RCV000392951 |
66 | R>C | Hermansky-Pudlak syndrome 3 Hermansky-Pudlak syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001295162 rs1189649144 RCV001835388 CA354910657 |
102 | S>Y | Hermansky-Pudlak syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1722344814 RCV001148659 |
108 | M>T | Hermansky-Pudlak syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2659780 RCV002557186 rs763529688 RCV001148660 |
113 | V>G | Hermansky-Pudlak syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002557187 CA2659787 rs577273287 RCV001148661 |
131 | P>L | Hermansky-Pudlak syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002557188 CA2659791 rs140810728 COSM275491 RCV001148662 |
133 | S>L | large_intestine endometrium Hermansky-Pudlak syndrome 3 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001148663 rs1722360673 |
167 | N>S | Hermansky-Pudlak syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2659833 RCV000299530 rs779612018 |
191 | V>I | Hermansky-Pudlak syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001148664 CA2659837 rs144990171 RCV002032378 |
198 | V>I | Hermansky-Pudlak syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2659845 RCV001150232 rs752370839 |
211 | L>P | Hermansky-Pudlak syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002504284 rs1363164647 RCV001222745 |
220 | R>missing | Hermansky-Pudlak syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs188661079 RCV002557234 CA2659849 RCV001150233 |
226 | H>R | Hermansky-Pudlak syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA2659851 rs750964494 RCV001279646 |
229 | N>K | Hermansky-Pudlak syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs199722122 RCV001314679 RCV001828570 CA2659855 RCV001150234 |
232 | I>V | Hermansky-Pudlak syndrome Hermansky-Pudlak syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001279647 rs748904322 CA2659857 RCV002537858 |
234 | R>Q | Hermansky-Pudlak syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs371986139 RCV002032389 RCV001150235 CA2659856 |
234 | R>W | Hermansky-Pudlak syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA10617456 rs886058075 RCV000273852 |
239 | I>S | Hermansky-Pudlak syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001412339 rs750402363 RCV001150236 RCV001828571 CA2659870 |
240 | S>N | Hermansky-Pudlak syndrome Hermansky-Pudlak syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000888939 rs34388030 CA2659885 VAR_038379 RCV000666103 RCV000215672 RCV001275835 |
275 | E>K | Hermansky-Pudlak syndrome Hermansky-Pudlak syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000822239 rs750685598 RCV001830815 |
284 | R>missing | Hermansky-Pudlak syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA85494364 RCV001150237 rs910569690 |
313 | H>R | Hermansky-Pudlak syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA2659952 RCV000944679 RCV001275837 rs370943042 COSM1039742 |
324 | G>S | endometrium Hermansky-Pudlak syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002557069 CA2659990 rs771822133 RCV001144087 RCV001279651 |
353 | Y>C | Hermansky-Pudlak syndrome 3 Hermansky-Pudlak syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA2660000 RCV001301343 RCV000284288 RCV002523247 RCV001833468 rs149620802 |
379 | T>M | Hermansky-Pudlak syndrome 3 Hermansky-Pudlak syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002523248 RCV000400485 rs749726836 CA2660006 |
385 | V>I | Hermansky-Pudlak syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_013251 CA340273 RCV001272473 RCV001070228 rs121908316 RCV000004876 |
397 | R>W | Hermansky-pudlak syndrome 3 (hps3) Variant assessed as Somatic; 0.0 impact. Hermansky-Pudlak syndrome 3 Hermansky-Pudlak syndrome HPS3; mild [Ensembl, NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000280033 rs886058078 CA10615512 |
399 | S>I | Hermansky-Pudlak syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA2660033 RCV000337460 rs773950483 |
403 | A>V | Hermansky-Pudlak syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs756295432 RCV000940511 RCV001145985 RCV001275839 CA2660037 |
410 | M>V | Hermansky-Pudlak syndrome 3 Hermansky-Pudlak syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs138303522 CA2660067 RCV001145986 RCV002559410 |
444 | H>N | Hermansky-Pudlak syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001275841 CA2660071 RCV001821040 rs149640235 RCV000401104 RCV000891475 |
456 | I>V | Hermansky-Pudlak syndrome 3 Hermansky-Pudlak syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs775762509 RCV000311721 |
460 | R>K | Hermansky-Pudlak syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001145987 RCV000944386 rs371551313 RCV001275842 CA2660092 COSM176148 |
468 | S>L | large_intestine endometrium Hermansky-Pudlak syndrome Hermansky-Pudlak syndrome 3 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000851268 rs780183200 CA2660105 |
503 | M>I | Hermansky-Pudlak syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000820215 rs778152054 RCV001095689 |
561 | C>missing | Hermansky-Pudlak syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2660165 rs142027515 RCV001821041 RCV000889435 RCV000315096 RCV001275843 |
571 | H>Y | Hermansky-Pudlak syndrome 3 Hermansky-Pudlak syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
COSM138397 RCV001279653 rs199882259 RCV000362813 CA2660172 |
590 | R>C | skin Hermansky-Pudlak syndrome Hermansky-Pudlak syndrome 3 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs145158238 RCV002548363 RCV000972103 CA2660173 RCV001275844 |
590 | R>H | Hermansky-Pudlak syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs147557809 RCV001148769 RCV001858975 CA2660181 RCV002557193 |
596 | E>G | Hermansky-Pudlak syndrome 3 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002536036 RCV000824870 rs1576687466 CA354922644 |
600 | Q>* | Hermansky-Pudlak syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003163330 RCV001148770 CA2660185 rs143804526 RCV002032380 |
603 | E>K | Hermansky-Pudlak syndrome 3 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000961496 rs148168280 CA2660188 RCV001272476 RCV000270833 |
607 | I>M | Hermansky-Pudlak syndrome Hermansky-Pudlak syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002495161 RCV000817323 rs755083879 CA2660191 RCV001272477 |
613 | S>* | Hermansky-Pudlak syndrome 3 Hermansky-Pudlak syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs200079039 RCV001225137 RCV001827166 RCV001003902 CA2660196 |
624 | E>* | Hermansky-pudlak syndrome 2 (hps2) Hermansky-Pudlak syndrome 2 Hermansky-Pudlak syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001871573 RCV001279654 rs753269782 CA2660212 |
651 | M>V | Hermansky-Pudlak syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002568736 RCV001254013 CA2660228 rs759772353 |
693 | H>R | Hermansky-Pudlak syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs745457191 RCV002504306 RCV001229791 RCV001828839 |
737 | Q>missing | Hermansky-Pudlak syndrome 3 Hermansky-Pudlak syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA2660262 RCV001275846 RCV000951069 RCV000264858 rs78336249 RCV000222602 |
739 | G>R | Hermansky-Pudlak syndrome 3 Hermansky-Pudlak syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA10617629 RCV000322494 rs886058079 |
742 | V>M | Hermansky-Pudlak syndrome 3 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA2660337 RCV001275847 rs144099522 RCV000897174 RCV001254015 |
793 | V>A | Hermansky-Pudlak syndrome 3 Hermansky-Pudlak syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1724018415 RCV001279656 |
820 | P>R | Hermansky-Pudlak syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1576695913 RCV002536613 RCV000852087 |
822 | R>missing | Hermansky-Pudlak syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001828612 COSM445781 RCV001196934 RCV001381018 rs369855073 CA2660352 |
822 | R>* | Variant assessed as Somatic; 0.0 impact. Hermansky-Pudlak syndrome 3 Hermansky-Pudlak syndrome breast [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA2660385 rs776346762 RCV001279658 RCV002541715 |
842 | H>Y | Hermansky-Pudlak syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs150765088 RCV001144197 CA2660386 RCV001273478 RCV000934277 |
843 | V>I | Hermansky-Pudlak syndrome 3 Hermansky-Pudlak syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000931988 RCV000316729 rs543058717 RCV001275850 CA2660434 |
898 | R>C | Hermansky-Pudlak syndrome 3 Hermansky-Pudlak syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA2660438 RCV000372632 rs202157837 |
900 | R>H | Variant assessed as Somatic; 0.0 impact. Hermansky-Pudlak syndrome 3 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA dbSNP gnomAD |
|
rs1277509410 RCV000661946 RCV001855395 |
913 | E>missing | Hermansky-Pudlak syndrome 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1576708708 RCV000851759 |
939 | L>missing | Hermansky-Pudlak syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA354927137 rs1206629874 RCV001279659 |
978 | M>V | Hermansky-Pudlak syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA2660510 RCV002559389 RCV002557077 rs781373708 RCV001144199 |
979 | N>S | Hermansky-Pudlak syndrome 3 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs922342164 RCV001280035 CA85522114 RCV002504409 |
988 | T>A | Hermansky-Pudlak syndrome 3 Hermansky-Pudlak syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
| TCGA novel | 3 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2659693 CA2659692 rs372464061 |
3 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2659695 rs768073643 |
5 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 5 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354906208 rs1201138726 |
7 | L>M | No |
ClinGen gnomAD |
|
|
rs756513574 CA2659697 |
7 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1190812943 CA354906226 |
8 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 10 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745557965 CA2659699 |
11 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1466073004 CA354906294 |
12 | S>L | No |
ClinGen gnomAD |
|
|
rs779620670 CA2659701 |
12 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768267976 CA2659703 |
13 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2659702 rs746568492 |
13 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867410024 CA85490242 |
14 | Q>E | No |
ClinGen Ensembl |
|
|
CA2659704 rs776757990 |
15 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs776757990 CA354906340 |
15 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA354906358 rs1194897511 |
16 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA354906398 rs1234037696 |
18 | C>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1427303748 CA354906431 |
21 | E>D | No |
ClinGen TOPMed |
|
|
rs867504860 CA85490249 |
22 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1314424927 CA354906447 |
24 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA354906461 rs1211497112 |
26 | C>S | No |
ClinGen gnomAD |
|
|
CA2659710 rs766439926 |
28 | G>W | No |
ClinGen ExAC gnomAD |
|
|
rs992750788 CA354906485 |
30 | R>C | No |
ClinGen gnomAD |
|
|
CA85490258 rs992750788 |
30 | R>G | No |
ClinGen gnomAD |
|
|
rs759588009 COSM3944993 CA2659712 |
30 | R>H | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 30 | R>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1427059089 CA354906492 |
31 | D>G | No |
ClinGen gnomAD |
|
|
rs1189286550 CA354906488 |
31 | D>N | No |
ClinGen gnomAD |
|
|
rs1164353284 CA354906500 |
32 | A>G | No |
ClinGen gnomAD |
|
|
CA2659713 rs767557803 |
33 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2659714 rs753236539 |
34 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs200294685 CA2659716 CA2659715 |
35 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA354906514 rs200294685 |
35 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA85490270 rs796825439 |
39 | C>W | No |
ClinGen Ensembl |
|
|
rs1482782053 CA354906547 |
40 | K>M | No |
ClinGen TOPMed |
|
|
CA354906562 rs1292124741 |
42 | E>A | No |
ClinGen gnomAD |
|
|
RCV000502428 rs1553750097 CA354906558 |
42 | E>Q | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 43 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2659718 rs757636860 |
43 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2659720 rs746651112 |
45 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs939825099 CA85490277 |
45 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA354906581 CA2659722 rs34757609 |
46 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA85490283 rs34757609 |
46 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1334407162 CA354906585 |
47 | A>T | No |
ClinGen gnomAD |
|
|
rs769794021 CA2659724 |
48 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2659723 rs748116102 |
48 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1176485715 CA354906602 |
49 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs777624550 CA2659725 |
50 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs898400231 CA85490290 |
52 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
CA354906618 rs898400231 |
52 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA2659726 rs749100179 |
53 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA2659728 rs774480483 |
53 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759717409 CA2659729 |
54 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759717409 CA85490295 |
54 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775492008 CA354906633 |
55 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775492008 CA2659731 |
55 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775492008 CA354906632 |
55 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2659730 rs772164468 |
55 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354906636 rs1179722620 |
56 | C>R | No |
ClinGen TOPMed |
|
|
rs1472425843 CA354906638 |
56 | C>S | No |
ClinGen TOPMed |
|
|
CA354906637 rs1472425843 |
56 | C>Y | No |
ClinGen TOPMed |
|
|
CA2659732 rs761176906 |
57 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs761176906 CA354906646 |
57 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1299872939 CA354906653 |
58 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA354906662 rs1197645390 |
60 | T>A | No |
ClinGen TOPMed |
|
|
rs754357938 CA2659734 |
63 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA354906679 rs1559902422 |
63 | R>W | No |
ClinGen Ensembl |
|
|
CA354906685 rs1576653706 |
64 | V>G | No |
ClinGen Ensembl |
|
|
CA2659735 rs762132592 |
64 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1322040761 CA354906707 |
68 | A>D | No |
ClinGen gnomAD |
|
| TCGA novel | 71 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354906745 rs1559902457 |
71 | E>Q | No |
ClinGen Ensembl |
|
|
rs780859763 CA2659739 |
72 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs762341889 CA2659753 |
74 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs765540129 CA2659754 |
75 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs765540129 CA2659755 |
75 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs759264215 CA2659756 |
76 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2659757 rs759264215 |
76 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2659758 rs752380626 |
77 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA354909785 rs752380626 |
77 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA2659759 rs755729493 |
79 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs777300722 CA2659760 |
79 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA354909830 rs755729493 |
79 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2659762 rs753743989 |
80 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1359875512 CA354909926 |
82 | K>E | No |
ClinGen gnomAD |
|
|
rs150645715 CA2659763 |
82 | K>R | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
CA85493156 rs764466668 |
83 | N>S | No |
ClinGen Ensembl |
|
|
CA2659765 rs201283536 |
84 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2659767 rs571944287 |
86 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA354910061 rs1228891687 |
86 | T>I | No |
ClinGen gnomAD |
|
|
rs758176776 CA2659768 |
88 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA2659770 rs202087344 |
89 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs768649317 CA2659771 |
89 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768649317 CA354910164 |
89 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1421710697 CA354910180 |
90 | A>S | No |
ClinGen TOPMed |
|
|
rs776721725 CA2659772 |
91 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA354910279 rs1373832632 |
93 | N>K | No |
ClinGen TOPMed |
|
|
rs1433830218 CA354910526 |
97 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 100 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1257162572 CA354910577 |
100 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs541164156 COSM1039735 CA2659775 |
103 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs763467075 CA354910678 |
103 | R>H | No |
ClinGen ExAC TOPMed |
|
|
rs763467075 CA2659776 |
103 | R>P | No |
ClinGen ExAC TOPMed |
|
|
CA2659777 rs766824775 |
104 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139678546 CA2659778 |
105 | C>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1277729024 CA354910737 |
106 | I>T | No |
ClinGen TOPMed |
|
| TCGA novel | 106 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1456789926 CA354910754 |
107 | R>Q | No |
ClinGen gnomAD |
|
|
CA354910775 rs1318725879 |
108 | M>V | No |
ClinGen gnomAD |
|
|
rs1576665257 CA354910818 |
109 | I>V | No |
ClinGen Ensembl |
|
|
rs1006160869 CA85493191 |
111 | H>R | No |
ClinGen TOPMed |
|
|
rs143596851 CA2659781 |
115 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs756718812 CA2659782 |
115 | G>V | No |
ClinGen ExAC |
|
|
CA354911003 rs1438522246 |
118 | S>N | No |
ClinGen gnomAD |
|
|
CA85493199 rs953544588 |
122 | R>G | No |
ClinGen gnomAD |
|
|
CA354911074 rs1349268546 |
123 | D>H | No |
ClinGen gnomAD |
|
|
rs1226066941 CA354911096 |
124 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs368535581 CA2659784 |
125 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2659783 rs765277624 |
125 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA354911215 rs1450239535 |
128 | I>V | No |
ClinGen gnomAD |
|
|
CA354911244 rs1353863770 |
129 | E>Q | No |
ClinGen TOPMed |
|
|
rs368415805 CA2659786 |
130 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
|
RCV000809431 rs748883997 |
135 | A>missing | No |
ClinVar dbSNP |
|
|
CA2659795 rs773902711 |
135 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354911405 rs769747723 |
135 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2659794 rs769747723 |
135 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354911408 rs773902711 |
135 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354911426 rs771446773 |
136 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2659798 rs774802486 |
136 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771446773 CA2659797 |
136 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776135012 CA2659802 |
137 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA85493246 rs369293593 |
137 | L>S | No |
ClinGen Ensembl |
|
|
rs764696921 CA2659803 |
138 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA2659804 rs750390759 |
139 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs758281135 CA2659805 |
142 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752455255 CA85493260 |
142 | C>R | No |
ClinGen Ensembl |
|
|
CA2659809 rs375065575 |
143 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs559742301 CA2659807 |
143 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs559742301 CA2659808 |
143 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2659810 rs752837159 |
146 | G>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756254897 CA2659811 |
147 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA354911704 rs756254897 |
147 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 148 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs146744768 CA2659815 |
150 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA354911775 rs1187038505 |
150 | V>G | No |
ClinGen gnomAD |
|
|
CA2659814 rs146744768 |
150 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA354911797 rs779562582 |
152 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA2659816 rs779562582 |
152 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA354911807 rs1163590678 |
152 | C>S | No |
ClinGen gnomAD |
|
|
rs1317269540 CA354911815 |
152 | C>W | No |
ClinGen TOPMed |
|
|
CA354911831 rs1427730138 |
153 | T>I | No |
ClinGen gnomAD |
|
|
CA354911828 rs1427730138 |
153 | T>K | No |
ClinGen gnomAD |
|
|
rs1258617563 CA354911825 |
153 | T>P | No |
ClinGen TOPMed |
|
|
CA2659817 rs551759358 |
154 | N>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs756544891 CA2659818 |
154 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs551759358 CA354911837 |
154 | N>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs776387542 CA2659819 |
156 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1396771231 CA354911866 |
158 | L>S | No |
ClinGen TOPMed |
|
|
rs1310086085 CA354911870 |
159 | F>L | No |
ClinGen gnomAD |
|
|
rs979740599 RCV001270521 |
160 | S>N | No |
ClinVar dbSNP |
|
|
CA85493280 rs979740599 COSM1536559 |
160 | S>T | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA354911891 rs1296568254 |
161 | L>F | No |
ClinGen TOPMed |
|
|
rs144174562 CA2659821 |
164 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772649825 CA2659822 |
164 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA354911917 rs1175699725 |
165 | I>F | No |
ClinGen gnomAD |
|
|
rs866117577 CA85493294 |
166 | I>M | No |
ClinGen Ensembl |
|
|
rs762881753 CA2659823 |
169 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA85493296 TCGA novel rs1036366561 |
170 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs751435609 CA2659825 |
174 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA354912104 rs1199977429 |
175 | F>I | No |
ClinGen gnomAD |
|
|
CA2659826 rs368439750 |
175 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1440410249 CA354912109 |
175 | F>Y | No |
ClinGen gnomAD |
|
|
CA354912120 rs1425760255 |
176 | E>* | No |
ClinGen gnomAD |
|
|
rs767183089 CA2659827 |
177 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752988768 CA2659828 COSM1419827 |
177 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs756348740 CA2659829 |
178 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs778009225 CA2659830 |
181 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1039060115 CA85493312 |
181 | I>V | No |
ClinGen TOPMed |
|
|
rs1300539956 CA354912279 |
184 | D>A | No |
ClinGen gnomAD |
|
|
CA354912297 rs1403790357 |
185 | N>S | No |
ClinGen gnomAD |
|
|
CA354912311 rs1396242829 |
186 | I>V | No |
ClinGen gnomAD |
|
|
CA354912342 rs1364851683 |
188 | P>S | No |
ClinGen gnomAD |
|
|
rs111810124 CA85493343 |
189 | V>A | No |
ClinGen Ensembl |
|
|
rs1456926675 CA354912419 |
192 | S>P | No |
ClinGen TOPMed |
|
|
CA2659835 rs772518774 |
194 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA2659836 rs780231164 |
195 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1360671187 CA354912493 |
200 | V>I | No |
ClinGen gnomAD |
|
|
rs149094990 CA2659838 |
201 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs772846152 CA2659839 |
203 | D>N | No |
ClinGen ExAC |
|
|
CA2659840 rs762504042 |
204 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs375028400 CA85493362 |
204 | L>V | No |
ClinGen ESP TOPMed |
|
|
rs770402319 CA2659841 |
205 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs374760824 CA2659842 |
206 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354912546 rs1323785420 |
208 | I>L | No |
ClinGen TOPMed |
|
|
rs878856622 CA85493375 |
209 | V>G | No |
ClinGen Ensembl |
|
|
CA2659843 rs369986333 COSM240150 |
209 | V>I | prostate [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA2659844 rs767360825 |
210 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1365995217 CA354912572 |
212 | E>D | No |
ClinGen Ensembl |
|
|
CA354912566 rs1576665807 |
212 | E>K | No |
ClinGen Ensembl |
|
|
CA354912588 rs1377655528 |
215 | P>A | No |
ClinGen TOPMed |
|
|
rs1322945771 CA354912589 |
215 | P>H | No |
ClinGen gnomAD |
|
|
CA354912631 rs1559908974 |
219 | E>* | No |
ClinGen Ensembl |
|
| TCGA novel | 219 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760546363 CA2659847 |
220 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143063861 CA2659848 |
221 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA85493403 rs925620896 |
222 | H>R | No |
ClinGen TOPMed |
|
|
rs866849152 CA85493401 |
222 | H>Y | No |
ClinGen Ensembl |
|
|
rs754377805 CA85493407 |
225 | P>L | No |
ClinGen Ensembl |
|
|
rs1448395384 CA354912739 |
226 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs201855201 CA85493411 |
229 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA |
|
rs765193483 CA2659850 |
229 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA354912800 rs1366180546 |
230 | N>K | No |
ClinGen gnomAD |
|
|
CA2659852 rs758772751 |
230 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA2659853 rs780470124 |
231 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs201019971 CA2659858 |
235 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765371581 CA2659869 |
238 | G>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 238 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2659872 rs373488474 |
242 | E>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA |
|
CA354913052 rs1245464556 |
244 | S>* | No |
ClinGen TOPMed |
|
|
rs752034836 CA2659876 |
245 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA2659877 rs755372867 |
245 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1221372362 CA354913137 |
248 | S>* | No |
ClinGen TOPMed |
|
|
CA2659878 rs781494097 |
249 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA2659879 rs545439652 |
254 | C>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1411770408 CA354913249 |
254 | C>W | No |
ClinGen TOPMed gnomAD |
|
|
CA354913308 rs1378684648 |
257 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs756796449 CA2659880 |
259 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs778626931 CA2659881 |
261 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 261 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354913409 rs1576666625 |
263 | E>G | No |
ClinGen Ensembl |
|
| TCGA novel | 265 | S>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA85493940 rs903384018 |
265 | S>N | No |
ClinGen Ensembl |
|
|
rs1240210016 CA354913458 |
265 | S>R | No |
ClinGen TOPMed |
|
|
rs376398872 CA85493942 |
266 | E>G | No |
ClinGen ESP TOPMed |
|
|
CA85493947 rs1057018509 |
268 | S>F | No |
ClinGen TOPMed |
|
|
CA2659882 rs745431040 |
269 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs752004185 CA2659883 |
272 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1483725751 CA354913535 |
273 | T>I | No |
ClinGen gnomAD |
|
|
rs1483725751 CA354913533 |
273 | T>R | No |
ClinGen gnomAD |
|
|
CA85493963 rs998964541 |
274 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs768596431 CA2659887 |
276 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA2659888 rs369702803 |
277 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2659890 rs373328893 |
277 | T>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs373328893 CA2659889 |
277 | T>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs200882543 CA85493999 |
280 | A>P | No |
ClinGen 1000Genomes |
|
|
CA354913605 rs1423947091 |
281 | D>E | No |
ClinGen gnomAD |
|
|
CA354913599 rs1553751665 |
281 | D>N | No |
ClinGen Ensembl |
|
| TCGA novel | 282 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354913607 rs1466844700 |
282 | E>K | No |
ClinGen gnomAD |
|
|
CA2659892 rs773468722 |
286 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1022637234 CA85494013 |
287 | S>A | No |
ClinGen Ensembl |
|
|
CA354913667 rs1576666852 |
288 | H>P | No |
ClinGen Ensembl |
|
|
CA354913672 rs1191911069 |
289 | F>L | No |
ClinGen TOPMed |
|
|
CA2659894 rs766446900 |
290 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1576666880 CA354913690 |
291 | H>P | No |
ClinGen Ensembl |
|
|
CA354913689 rs1436493554 |
291 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs752087954 CA2659895 |
294 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200156408 CA85494052 |
294 | Y>C | No |
ClinGen 1000Genomes gnomAD |
|
|
CA2659896 rs759983514 |
295 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA2659929 rs137952312 |
296 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2659930 rs137952312 |
296 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs141832148 CA2659931 |
296 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA85494304 rs137952312 |
296 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373049759 CA2659933 |
298 | A>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs373049759 CA85494323 |
298 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs758012717 CA2659932 |
298 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs751180573 CA2659934 |
299 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2659935 rs754520795 |
300 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 301 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2659936 rs781327575 |
302 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354913830 rs1386793979 |
303 | S>C | No |
ClinGen gnomAD |
|
|
CA2659937 rs748088057 |
304 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769503746 CA2659938 |
306 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2659940 rs377428730 |
307 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2659939 rs377428730 |
307 | S>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771072752 CA2659941 |
308 | D>E | No |
ClinGen ExAC |
|
|
rs371430031 CA2659942 |
311 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200395770 CA2659943 |
311 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2659946 rs536794577 |
315 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2659945 rs536794577 |
315 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2659948 rs764381762 |
316 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs764381762 CA2659947 |
316 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA354913976 rs1225447105 CA354913978 |
316 | Q>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 316 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354913981 rs1269608722 |
317 | L>V | No |
ClinGen gnomAD |
|
|
rs1576667303 CA354913992 |
318 | L>P | No |
ClinGen Ensembl |
|
| TCGA novel | 318 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2659949 rs762077425 |
318 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs944688815 CA85494433 |
319 | P>R | No |
ClinGen Ensembl |
|
|
CA85494435 rs1040463306 |
320 | I>V | No |
ClinGen Ensembl |
|
|
CA354914033 rs1470656695 |
322 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA354914035 rs1470656695 |
322 | Q>R | No |
ClinGen TOPMed gnomAD |
|
| rs199556788 | 323 | T>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354915307 rs1342043525 |
324 | G>V | No |
ClinGen gnomAD |
|
|
rs767145551 CA2659972 |
325 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs575943583 CA2659974 |
327 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM581977 rs575943583 CA2659973 |
327 | T>R | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 328 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757079213 CA2659976 |
329 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354915406 rs1254366266 |
330 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs778630258 CA2659979 |
332 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA2659980 rs778630258 |
332 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA2659981 rs758549653 |
333 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM334506 rs1174849391 CA354915513 |
335 | Q>* | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA354915543 rs1418479099 |
336 | E>G | No |
ClinGen gnomAD |
|
|
rs180754391 CA85497778 |
336 | E>K | No |
ClinGen 1000Genomes |
|
|
rs747203465 CA85497779 |
338 | E>G | No |
ClinGen Ensembl |
|
|
CA354915568 rs1172448451 |
338 | E>Q | No |
ClinGen gnomAD |
|
|
rs1373091328 CA354915582 |
339 | L>S | No |
ClinGen gnomAD |
|
|
rs138254267 CA2659983 |
341 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354915609 rs1407804657 |
342 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1337789289 CA354915628 |
343 | F>L | No |
ClinGen gnomAD |
|
|
rs1452976388 RCV001228715 |
344 | C>missing | No |
ClinVar dbSNP |
|
|
rs966713954 CA354915637 |
344 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
CA85497786 rs966713954 |
344 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1427624982 CA354915650 |
345 | F>L | No |
ClinGen TOPMed |
|
|
rs768593961 CA2659984 |
345 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs777231166 CA354915663 |
346 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748621350 CA2659986 |
348 | L>S | No |
ClinGen ExAC |
|
|
rs770304143 CA85497811 |
349 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770304143 CA2659987 |
349 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs941581965 CA85497822 |
351 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs759266104 CA2659989 |
352 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs773653443 CA2659988 |
352 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA354915733 rs1484776662 |
354 | L>F | No |
ClinGen gnomAD |
|
|
rs1188145047 CA354915746 |
355 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA2659991 rs774985673 |
363 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1432561980 CA354915813 |
364 | M>I | No |
ClinGen gnomAD |
|
|
rs763472428 CA2659993 |
366 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1722736328 RCV001058880 |
367 | Y>* | No |
ClinVar dbSNP |
|
|
rs1349881223 CA354915835 |
368 | Q>* | No |
ClinGen TOPMed |
|
|
CA2659995 rs761685684 |
369 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs765025074 CA2659996 |
370 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750288537 CA2659997 |
372 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs374685364 CA2659998 |
372 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354915923 rs1313494594 |
378 | L>R | No |
ClinGen TOPMed |
|
|
rs1314865936 CA354916026 |
386 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs771171459 CA2660008 |
387 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771171459 CA2660007 |
387 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354917016 rs1162175762 |
390 | N>K | No |
ClinGen gnomAD |
|
|
CA354917026 rs1425900826 |
392 | Q>E | No |
ClinGen gnomAD |
|
|
CA354917024 rs1425900826 |
392 | Q>K | No |
ClinGen gnomAD |
|
|
CA2660025 rs779088731 |
393 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA85501938 rs913619917 |
394 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
CA354917055 rs1298976710 |
394 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2660026 rs746682122 |
394 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA2660027 rs768263139 |
396 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_035928 CA2660028 COSM33370 rs747708121 |
397 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine a colorectal cancer sample; somatic mutation [NCI-TCGA, Cosmic, UniProt] | No |
ClinGen cosmic curated UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA354917089 rs1360046176 |
398 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs138874465 CA2660029 |
400 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs142082044 CA2660031 |
401 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1182108600 CA354917141 |
403 | A>S | No |
ClinGen gnomAD |
|
|
rs935052337 CA85501972 |
404 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs773843901 CA85501973 |
404 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs773843901 CA354917154 |
404 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs773843901 CA354917152 |
404 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1438554198 CA354917172 |
405 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1417397266 CA354917164 |
405 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA354917167 rs1417397266 |
405 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1411753545 COSM3774619 CA354917178 |
406 | E>K | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA2660035 rs767908300 |
408 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs759370887 CA2660034 |
408 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 409 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1357937427 CA354917255 |
409 | Y>H | No |
ClinGen TOPMed |
|
|
rs756295432 CA2660038 |
410 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2660040 rs369102790 |
415 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA85502011 rs373896557 |
415 | K>R | No |
ClinGen ESP |
|
|
CA2660058 rs567188396 |
416 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs567188396 CA354918813 |
416 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs567188396 CA354918811 |
416 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1347237480 CA354918816 |
416 | A>V | No |
ClinGen TOPMed |
|
|
rs757349201 CA2660059 |
417 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs1268192836 CA354918836 |
417 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA2660060 rs765716158 |
418 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs538941082 CA2660061 |
420 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA354918935 rs1237118255 |
422 | M>T | No |
ClinGen TOPMed |
|
|
CA354918963 rs1325152912 |
424 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA2660062 rs758791534 |
425 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA85504373 rs952333745 |
429 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1201904632 CA354919070 |
430 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA354919110 rs1255784382 |
432 | F>L | No |
ClinGen gnomAD |
|
|
CA354919120 rs1457009586 |
433 | I>K | No |
ClinGen gnomAD |
|
|
CA354919138 CA2660064 rs747808313 |
435 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA354919133 rs1302486191 |
435 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA2660065 rs755693293 |
436 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs1303276008 CA354919149 |
437 | A>D | No |
ClinGen gnomAD |
|
|
CA354919146 rs1576681720 |
437 | A>T | No |
ClinGen Ensembl |
|
|
rs1576681736 CA354919152 |
438 | I>L | No |
ClinGen Ensembl |
|
|
rs1334784891 CA354919155 |
438 | I>N | No |
ClinGen gnomAD |
|
|
CA354919174 rs1374285300 |
440 | H>Q | No |
ClinGen TOPMed |
|
|
rs986828483 CA354919181 |
441 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2660066 rs777477391 |
443 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs910718077 CA85504395 |
443 | N>K | No |
ClinGen gnomAD |
|
|
rs374182680 CA2660068 |
445 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA85504426 rs963232399 |
446 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1040128896 CA85504428 |
451 | A>P | No |
ClinGen Ensembl |
|
|
rs1208963521 CA354919245 |
451 | A>V | No |
ClinGen TOPMed |
|
|
rs1485414787 CA354919254 |
452 | E>D | No |
ClinGen TOPMed |
|
|
rs745772179 CA2660070 |
452 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA354919261 rs1576681828 |
454 | E>K | No |
ClinGen Ensembl |
|
|
CA354919274 rs1437457811 |
455 | A>V | No |
ClinGen gnomAD |
|
|
CA354919286 rs1559917098 |
457 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs760542432 CA2660073 |
458 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs927043897 CA85504461 |
459 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs150594462 CA2660075 |
459 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2660074 rs769060778 |
459 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA354919300 rs1395230157 |
460 | R>I | No |
ClinGen gnomAD |
|
|
CA354919311 rs1389256926 |
461 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1389256926 CA354919309 |
461 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA354919317 RCV001063606 rs1330496818 |
462 | S>* | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs373939378 CA2660077 |
463 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1559917152 CA354919325 |
464 | K>Q | No |
ClinGen Ensembl |
|
|
CA85504475 rs376265967 |
466 | L>F | No |
ClinGen ESP TOPMed |
|
|
CA85505672 rs371551313 |
468 | S>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1576683380 CA354919397 |
469 | R>G | No |
ClinGen Ensembl |
|
|
rs1022212143 CA85505687 |
471 | D>G | No |
ClinGen TOPMed |
|
|
CA2660095 rs769774599 |
472 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354919488 rs1314095455 |
472 | T>N | No |
ClinGen gnomAD |
|
|
rs1405017032 CA354919507 |
473 | S>N | No |
ClinGen TOPMed |
|
| TCGA novel | 475 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354919753 rs1165091492 |
484 | A>P | No |
ClinGen TOPMed |
|
|
rs766928384 CA2660098 |
485 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1723367742 RCV001222744 |
486 | W>missing | No |
ClinVar dbSNP |
|
|
CA2660099 rs372811531 |
486 | W>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1576683452 CA354919812 |
486 | W>G | No |
ClinGen Ensembl |
|
|
CA85505719 rs756186027 |
487 | N>D | No |
ClinGen Ensembl |
|
|
rs759932177 CA2660100 |
489 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 493 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 493 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354920045 rs1204172323 |
494 | I>V | No |
ClinGen gnomAD |
|
|
rs377021906 CA85505737 |
495 | S>* | No |
ClinGen ESP TOPMed |
|
|
rs377021906 CA85505739 |
495 | S>L | No |
ClinGen ESP TOPMed |
|
|
CA2660103 rs764792492 |
496 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs754169264 CA85505762 |
497 | V>G | No |
ClinGen Ensembl |
|
|
rs750012989 CA2660104 |
497 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1035427075 CA85505767 |
498 | Q>* | No |
ClinGen gnomAD |
|
|
rs6440589 CA354920149 |
498 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA354920204 rs1404302412 |
503 | M>L | No |
ClinGen gnomAD |
|
|
rs1361196608 CA354921126 |
504 | V>I | No |
ClinGen gnomAD |
|
|
CA354921146 rs1404449056 |
505 | D>G | No |
ClinGen gnomAD |
|
|
rs375394383 CA2660120 |
506 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751610735 CA354921177 |
507 | S>C | No |
ClinGen gnomAD |
|
|
rs751610735 CA85507335 |
507 | S>G | No |
ClinGen gnomAD |
|
|
CA2660121 rs764993541 |
507 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750074214 CA2660122 |
509 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs369455349 CA2660124 |
510 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2660123 rs758015968 |
510 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA2660126 rs754875039 |
513 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA354921329 rs1315490018 |
514 | K>E | No |
ClinGen TOPMed |
|
|
rs983900459 CA85507363 |
514 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 520 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1488601274 CA354921479 |
520 | H>Y | No |
ClinGen gnomAD |
|
|
rs780982970 CA2660128 |
521 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA354921554 rs1375045289 |
523 | S>R | No |
ClinGen TOPMed |
|
|
CA85507392 rs754476949 |
523 | S>T | No |
ClinGen Ensembl |
|
|
CA354921585 rs1417730911 |
524 | E>G | No |
ClinGen gnomAD |
|
|
CA85507394 rs920976021 |
526 | H>R | No |
ClinGen Ensembl |
|
|
CA2660129 rs145586365 |
529 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354921681 rs1161868721 |
529 | V>M | No |
ClinGen gnomAD |
|
|
CA2660130 rs755841847 RCV001231243 |
530 | R>* | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs933726474 CA85507419 |
530 | R>Q | No |
ClinGen gnomAD |
|
|
CA354921717 rs1424599347 |
531 | A>G | No |
ClinGen TOPMed |
|
|
rs756611897 CA2660127 |
533 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1165935284 CA354921733 |
534 | M>K | No |
ClinGen TOPMed |
|
| TCGA novel | 534 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA85507445 rs372479893 |
534 | M>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs762130243 CA85507461 |
535 | D>A | No |
ClinGen Ensembl |
|
|
rs774349540 CA2660134 |
536 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA85507500 rs866371559 |
536 | A>V | No |
ClinGen Ensembl |
|
|
rs1381930551 CA354921787 |
538 | Q>E | No |
ClinGen gnomAD |
|
|
rs913557292 CA85507507 |
540 | E>K | No |
ClinGen Ensembl |
|
|
CA85507518 rs945061653 |
541 | P>S | No |
ClinGen Ensembl |
|
|
CA2660137 rs775838782 |
542 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA2660140 rs773023675 |
543 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs764517887 CA2660139 |
543 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs761144920 CA2660138 |
543 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA354921920 rs1481436085 |
547 | L>V | No |
ClinGen gnomAD |
|
|
CA354921957 rs1239236325 |
549 | E>D | No |
ClinGen gnomAD |
|
|
CA2660141 COSM1327816 rs762633341 |
549 | E>K | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA2660142 rs765988765 |
550 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA354921989 rs1438006377 |
551 | F>C | No |
ClinGen TOPMed |
|
|
CA2660143 rs751176902 |
555 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA354922066 rs1182300500 |
555 | C>S | No |
ClinGen gnomAD |
|
|
CA354922121 rs758952091 COSM325511 |
557 | H>Q | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1252060860 CA354922115 |
557 | H>R | No |
ClinGen TOPMed |
|
|
rs1406056173 CA354922106 |
557 | H>Y | No |
ClinGen gnomAD |
|
|
rs547126954 CA85507579 |
558 | L>F | No |
ClinGen 1000Genomes |
|
|
rs1352957239 CA354922137 |
558 | L>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1352957239 CA354922141 |
558 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA2660146 rs767538487 |
561 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354922191 rs767538487 |
561 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354922236 rs1043628216 CA85507595 |
563 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA354922257 rs1218805667 |
565 | L>F | No |
ClinGen gnomAD |
|
|
CA2660164 rs377137645 |
567 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354922286 rs1162698396 |
569 | H>R | No |
ClinGen gnomAD |
|
|
rs1576687286 TCGA novel CA354922293 |
570 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
| TCGA novel | 573 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs764016043 CA2660166 |
577 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1014862535 CA85508390 |
577 | Y>H | No |
ClinGen Ensembl |
|
|
CA354922382 rs1301856469 |
579 | M>I | No |
ClinGen TOPMed |
|
|
rs1215710049 CA354922400 |
581 | G>D | No |
ClinGen gnomAD |
|
|
CA85508391 rs963517693 |
581 | G>R | No |
ClinGen TOPMed |
|
|
rs557369434 CA2660167 |
582 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1559919835 CA354922412 |
582 | L>S | No |
ClinGen Ensembl |
|
|
rs779147729 CA85508417 |
583 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779147729 CA2660169 |
583 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs982777508 CA85508442 |
584 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA2660170 rs574234110 |
584 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1398540381 CA354922455 |
586 | E>K | No |
ClinGen Ensembl |
|
|
rs758530382 CA2660171 |
589 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 589 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376188195 COSM1209943 CA2660174 |
591 | T>M | pancreas large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1302012677 CA354922552 |
593 | W>* | No |
ClinGen gnomAD |
|
|
rs770250894 CA2660177 |
594 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA354922669 rs1319513052 |
601 | K>N | No |
ClinGen gnomAD |
|
|
rs141973813 CA2660183 |
602 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2660184 rs143804526 |
603 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354922708 rs1489900687 |
604 | R>S | No |
ClinGen gnomAD |
|
|
CA2660186 rs764894549 |
604 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA354922712 rs1201360618 |
605 | G>R | No |
ClinGen gnomAD |
|
|
rs766616358 CA2660189 |
608 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2660190 rs751644652 |
610 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs1346681680 CA354922809 |
612 | H>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 618 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2660193 rs748625015 |
619 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA354922919 RCV000806167 rs1488175163 |
621 | E>* | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs1194776984 CA354922935 |
623 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs765089574 CA2660205 |
627 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA354922980 rs780374149 |
628 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA2660206 rs780374149 |
628 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA354922985 rs1211884944 |
629 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1055229710 CA85509632 |
629 | K>T | No |
ClinGen TOPMed |
|
|
CA354923009 rs1338910310 |
632 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA354923006 rs1267635630 |
632 | Q>P | No |
ClinGen TOPMed |
|
|
CA2660207 rs762791698 |
633 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 634 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354923055 rs1458084785 |
637 | A>S | No |
ClinGen gnomAD |
|
|
rs1202922570 CA354923063 |
637 | A>V | No |
ClinGen gnomAD |
|
|
CA85509667 rs920301782 |
642 | V>L | No |
ClinGen TOPMed |
|
|
CA85509654 rs920301782 |
642 | V>M | No |
ClinGen TOPMed |
|
|
CA2660209 rs751796775 |
643 | P>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 643 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1187565647 CA354923148 |
644 | H>R | No |
ClinGen gnomAD |
|
|
rs1372002095 CA354923155 |
645 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs767654406 CA2660211 |
646 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 646 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767654406 CA354923168 |
646 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1426194457 CA354923183 |
647 | C>F | No |
ClinGen gnomAD |
|
|
CA354923192 rs1336513370 |
648 | S>G | No |
ClinGen gnomAD |
|
|
CA354923211 rs1400622155 |
649 | P>S | No |
ClinGen gnomAD |
|
|
rs756510967 CA2660213 |
653 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1325989866 CA354923280 |
654 | I>S | No |
ClinGen gnomAD |
|
|
CA354923293 rs1217006749 |
655 | N>T | No |
ClinGen gnomAD |
|
|
rs1376584652 CA354923303 |
656 | P>A | No |
ClinGen gnomAD |
|
|
COSM74943 rs1280378060 CA354923307 |
656 | P>L | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA85509744 rs78280605 |
657 | L>* | No |
ClinGen Ensembl |
|
|
CA354923430 rs1222620533 |
666 | L>M | No |
ClinGen gnomAD |
|
|
rs1201029834 CA354923450 |
667 | D>G | No |
ClinGen gnomAD |
|
|
rs749664182 CA2660215 |
667 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA354923470 rs1260411341 |
669 | S>C | No |
ClinGen gnomAD |
|
|
CA354923480 rs1444825722 |
670 | G>E | No |
ClinGen gnomAD |
|
|
CA354923514 rs1195256211 |
672 | S>L | No |
ClinGen gnomAD |
|
|
CA354923524 rs141023798 |
673 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2660218 rs141023798 |
673 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA85509838 rs966592739 |
674 | I>N | No |
ClinGen TOPMed |
|
|
CA2660221 rs747655575 |
681 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs769673859 CA2660223 |
683 | V>L | No |
ClinGen ExAC |
|
|
CA2660224 rs773175664 |
684 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA2660226 rs770716422 |
687 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1559920852 CA354923652 |
689 | D>G | No |
ClinGen Ensembl |
|
|
rs774734982 CA2660227 |
691 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1260037693 CA354923690 |
694 | R>I | No |
ClinGen gnomAD |
|
| TCGA novel | 696 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1351452283 CA354923711 |
697 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA354923710 rs1351452283 |
697 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs75017522 CA2660230 |
700 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA85509969 rs75017522 |
700 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1482438538 CA354923839 |
703 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA2660243 rs770644016 |
703 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 705 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774222600 CA2660244 |
706 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs759399338 CA2660245 |
707 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA354923875 rs1327659129 |
709 | F>V | No |
ClinGen TOPMed |
|
|
rs775824563 CA2660247 |
711 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1559922420 CA354923899 |
712 | E>D | No |
ClinGen Ensembl |
|
|
CA2660250 rs764187008 |
714 | R>L | No |
ClinGen ExAC gnomAD |
|
|
COSM1209945 CA2660249 rs764187008 |
714 | R>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA2660248 rs760701467 |
714 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142018758 CA85514011 |
715 | L>V | No |
ClinGen ESP gnomAD |
|
|
rs971971183 CA85514013 |
718 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs762317347 CA2660251 |
720 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA354923948 rs1380971964 |
721 | K>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 722 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA85514019 rs866231304 |
723 | Q>K | No |
ClinGen TOPMed |
|
|
rs567265532 CA354923981 |
726 | P>S | No |
ClinGen gnomAD |
|
|
rs567265532 CA85514034 |
726 | P>T | No |
ClinGen gnomAD |
|
|
CA2660254 rs758736477 |
728 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs780859070 CA2660255 |
730 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1463013005 CA354924012 |
731 | L>F | No |
ClinGen TOPMed |
|
|
CA2660258 rs777278124 |
733 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA354924047 rs1559922536 |
736 | T>A | No |
ClinGen Ensembl |
|
|
rs749184890 CA85514088 |
736 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749184890 CA2660260 |
736 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771058291 CA2660261 |
737 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs913384287 CA85514097 |
738 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA354924058 rs913384287 |
738 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
COSM375779 rs1465298673 CA354924072 |
740 | L>F | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs886058079 CA354924080 |
742 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2660264 rs771953424 |
743 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs76493030 CA85514122 |
744 | S>L | No |
ClinGen Ensembl |
|
|
rs1483219181 CA354924097 |
745 | V>F | No |
ClinGen gnomAD |
|
|
rs1483219181 CA354924095 |
745 | V>I | No |
ClinGen gnomAD |
|
|
CA85514135 rs868194242 |
747 | G>D | No |
ClinGen gnomAD |
|
|
CA85514147 rs369185387 |
748 | L>F | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs747197669 CA2660266 |
750 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA354924133 rs1559922662 |
751 | N>D | No |
ClinGen Ensembl |
|
|
CA85514176 rs768624877 |
751 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs575460100 CA2660268 |
752 | N>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA354924149 rs765786180 |
753 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs765786180 CA2660270 |
753 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA354924165 rs1405190453 |
755 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2660271 rs755571250 |
756 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354924176 rs1576694175 |
757 | E>A | No |
ClinGen Ensembl |
|
|
CA85514235 rs905615105 |
757 | E>Q | No |
ClinGen Ensembl |
|
|
rs1001729830 CA85514236 |
758 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA354924189 rs1379332815 |
759 | A>V | No |
ClinGen gnomAD |
|
|
CA2660273 rs201624572 |
760 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354924193 rs1324102028 |
760 | D>Y | No |
ClinGen TOPMed |
|
|
rs1576694231 CA354924201 |
761 | S>A | No |
ClinGen Ensembl |
|
|
rs752303581 CA2660274 |
763 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA85514237 rs934323844 |
764 | K>Q | No |
ClinGen TOPMed |
|
|
rs754819849 CA2660326 |
770 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs138184769 CA2660327 |
771 | E>G | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
CA2660328 rs752917772 |
772 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs1450433255 CA354924290 |
772 | D>E | No |
ClinGen gnomAD |
|
|
CA354924306 rs1317543874 |
775 | P>A | No |
ClinGen gnomAD |
|
|
CA354924323 rs1259759316 |
777 | L>P | No |
ClinGen gnomAD |
|
|
CA2660331 rs749417974 |
782 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA354924372 rs1291838587 |
784 | A>S | No |
ClinGen TOPMed |
|
|
CA354924380 rs1187673602 |
785 | Q>R | No |
ClinGen gnomAD |
|
|
rs112002460 CA85514741 |
786 | L>P | No |
ClinGen Ensembl |
|
|
rs1462927883 CA354924428 |
793 | V>M | No |
ClinGen gnomAD |
|
|
rs1400736402 CA354924433 |
794 | V>I | No |
ClinGen gnomAD |
|
|
rs1724008890 RCV001298439 |
796 | Q>R | No |
ClinVar dbSNP |
|
|
CA2660338 rs536290881 |
797 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 799 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354924475 rs1340042690 |
800 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 801 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1325262911 CA354924485 |
801 | K>T | No |
ClinGen TOPMed |
|
|
rs1217032727 CA354924500 |
803 | T>I | No |
ClinGen gnomAD |
|
|
CA2660341 rs552963632 |
804 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1397308056 CA354924508 |
805 | Q>E | No |
ClinGen TOPMed |
|
|
CA354924513 rs1257586851 |
805 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1326857116 CA354924519 |
806 | Y>C | No |
ClinGen gnomAD |
|
|
rs751525171 CA2660343 |
807 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs575323437 CA2660344 |
808 | W>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA354924536 rs1210901974 |
808 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs755880020 CA2660347 |
811 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354924554 rs778009938 |
811 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs755880020 CA354924551 |
811 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2660348 rs778009938 |
811 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA354924569 rs1250672717 |
813 | R>S | No |
ClinGen TOPMed |
|
|
CA2660349 rs754010323 |
815 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1429446149 CA354924580 |
815 | P>S | No |
ClinGen gnomAD |
|
|
CA354924588 rs1376371250 |
816 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1206651876 CA354924593 |
817 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs757372543 CA354924601 |
818 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA2660350 rs757372543 |
818 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1248391070 CA354924603 |
819 | T>A | No |
ClinGen TOPMed |
|
|
rs1418072038 CA354924622 |
822 | R>Q | No |
ClinGen gnomAD |
|
|
RCV001247663 rs373037058 |
824 | S>* | No |
ClinVar dbSNP |
|
|
CA2660354 rs373037058 |
824 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769105869 CA2660356 |
825 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1312069400 CA354924640 |
825 | E>G | No |
ClinGen Ensembl |
|
|
rs1559923620 CA354924645 |
826 | D>Y | No |
ClinGen Ensembl |
|
|
rs148688043 CA2660358 |
827 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770550121 CA2660378 |
828 | I>R | No |
ClinGen ExAC |
|
|
CA2660379 rs774033948 |
830 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA2660380 rs745410758 |
830 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA354924693 rs1199235899 |
832 | S>R | No |
ClinGen TOPMed |
|
|
CA2660381 rs771530969 |
834 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs374858345 CA2660382 |
835 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA354924725 rs1271131796 |
836 | L>* | No |
ClinGen TOPMed |
|
|
rs186872520 CA2660383 |
837 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA354924742 rs1362870541 |
839 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1216442323 CA354924751 |
840 | W>* | No |
ClinGen gnomAD |
|
|
CA2660384 rs764013864 |
841 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs3732557 CA354924768 |
842 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2660388 rs758569835 |
844 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs766512956 CA2660389 |
846 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA2660390 rs752120907 |
848 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs1314383446 CA354924798 |
848 | D>N | No |
ClinGen gnomAD |
|
|
rs371304067 CA2660392 |
849 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2660391 rs755612681 |
849 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA2660393 rs753053771 |
851 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs527824858 CA2660396 |
855 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA354924848 rs527824858 |
855 | Y>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA354924855 rs779605157 |
856 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs779605157 CA2660398 |
856 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA2660399 rs746506828 |
858 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354925235 rs1178638282 |
864 | S>F | No |
ClinGen TOPMed |
|
|
CA354925222 rs1253094469 |
864 | S>P | No |
ClinGen TOPMed |
|
|
rs565634870 CA85517789 |
865 | L>F | No |
ClinGen Ensembl |
|
|
CA2660423 rs564057556 |
866 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1158481035 CA354925259 |
866 | I>R | No |
ClinGen gnomAD |
|
|
CA354925264 rs1158481035 |
866 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 872 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA354925378 rs1576706258 |
873 | I>L | No |
ClinGen Ensembl |
|
|
COSM1693577 rs145093021 CA2660426 |
878 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA2660428 rs774685745 |
879 | F>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1470297994 CA354925491 |
880 | L>S | No |
ClinGen gnomAD |
|
|
rs1308893916 CA354925500 |
881 | E>D | No |
ClinGen TOPMed |
|
|
rs767585461 CA2660430 |
887 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs753157984 CA2660431 |
888 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2660433 rs760447134 |
890 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1446775566 CA354925560 |
891 | L>F | No |
ClinGen gnomAD |
|
|
CA354925569 rs1326919741 |
892 | S>I | No |
ClinGen gnomAD |
|
| TCGA novel | 893 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1406897595 CA354925588 |
894 | H>Q | No |
ClinGen TOPMed |
|
|
rs1443164383 CA354925592 |
895 | V>I | No |
ClinGen gnomAD |
|
|
CA354925619 rs1283774552 |
897 | C>Y | No |
ClinGen gnomAD |
|
|
rs528504188 COSM1039747 CA2660435 |
898 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA2660437 rs751160941 |
900 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1366000709 CA354925668 |
901 | L>V | No |
ClinGen TOPMed |
|
|
CA2660439 rs780682781 |
902 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354925706 rs969561466 |
903 | E>A | No |
ClinGen TOPMed |
|
|
rs747611171 CA2660440 |
903 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA85517907 rs969561466 |
903 | E>G | No |
ClinGen TOPMed |
|
|
CA354925808 rs1338969633 |
908 | I>L | No |
ClinGen TOPMed |
|
|
rs1235325378 CA354925821 |
909 | D>V | No |
ClinGen gnomAD |
|
|
rs749137475 CA2660443 |
910 | I>V | No |
ClinGen ExAC gnomAD |
|
|
RCV001268790 rs1724509208 |
913 | E>missing | No |
ClinVar dbSNP |
|
|
CA2660445 rs770812638 |
913 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 913 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs528838257 CA2660446 |
915 | C>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2660448 rs186659271 |
916 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2660449 rs186659271 |
916 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1353793188 CA354925911 |
917 | E>K | No |
ClinGen gnomAD |
|
|
CA354925939 rs1576706741 |
919 | V>I | No |
ClinGen Ensembl |
|
|
CA354925952 rs1235813833 |
920 | I>F | No |
ClinGen gnomAD |
|
|
CA354925957 rs1293661121 |
920 | I>S | No |
ClinGen gnomAD |
|
|
CA2660450 rs760647222 |
922 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1225577011 CA354926013 |
924 | N>S | No |
ClinGen TOPMed |
|
| TCGA novel | 926 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765524486 CA2660454 |
926 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2660455 rs751213841 |
927 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1486438694 CA354926064 |
928 | K>E | No |
ClinGen gnomAD |
|
|
CA354926110 rs551986971 |
930 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs754731485 CA2660457 |
930 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs374197403 CA2660459 |
932 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs777890661 CA2660461 |
932 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374197403 CA2660460 |
932 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2660477 rs752254530 |
935 | W>* | No |
ClinGen ExAC TOPMed |
|
|
CA354926249 rs1290395505 |
935 | W>G | No |
ClinGen gnomAD |
|
|
rs760255783 CA2660478 |
936 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA85518533 rs11537808 |
938 | K>* | No |
ClinGen Ensembl |
|
|
rs1386112864 CA354926349 |
941 | P>A | No |
ClinGen gnomAD |
|
|
CA2660479 rs763642390 |
941 | P>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 942 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1373124710 CA354926364 |
942 | E>K | No |
ClinGen gnomAD |
|
|
rs753830955 CA2660480 |
943 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1314753041 CA354926383 |
944 | C>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 946 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA85518554 rs369619705 |
946 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1351803827 CA354926405 |
947 | I>T | No |
ClinGen gnomAD |
|
|
CA2660481 rs368605717 |
947 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA85518584 rs778588670 |
949 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA2660483 rs542575938 |
950 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1194331459 CA354926427 |
950 | G>V | No |
ClinGen gnomAD |
|
|
CA85518605 rs371658926 |
951 | G>R | No |
ClinGen ESP TOPMed |
|
|
CA2660484 rs750271056 |
952 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA85518606 rs917888974 |
957 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA85518608 rs1027421371 |
959 | S>L | No |
ClinGen Ensembl |
|
|
CA2660486 rs780343349 |
960 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1162542307 CA354926507 |
963 | E>K | No |
ClinGen gnomAD |
|
|
rs1355708969 CA354927038 |
966 | S>L | No |
ClinGen TOPMed |
|
|
CA2660505 rs200136665 |
967 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1233251756 CA354927074 |
969 | A>V | No |
ClinGen TOPMed |
|
|
rs751361480 CA2660508 |
973 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354927134 rs1306281704 COSM257128 |
977 | F>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA2660509 rs755248178 |
979 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2660511 rs781373708 |
979 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA354927204 rs1259912926 |
985 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA85522112 rs118124441 |
986 | T>I | No |
ClinGen 1000Genomes |
|
|
CA354927238 rs1417222671 |
988 | T>K | No |
ClinGen gnomAD |
|
|
CA85522120 rs1042706528 |
992 | P>R | No |
ClinGen Ensembl |
|
|
CA354927329 rs1432440973 |
993 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1489252070 CA354927333 |
994 | L>V | No |
ClinGen TOPMed |
|
|
rs367699256 CA354927339 |
995 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2660515 rs367699256 |
995 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1209961720 CA354927347 |
996 | Y>C | No |
ClinGen TOPMed |
|
|
rs771333512 CA2660517 |
997 | C>R | No |
ClinGen ExAC |
|
|
rs774646241 CA354927366 COSM1419835 |
999 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs774646241 CA2660518 |
999 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2660519 rs527240120 |
999 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2660520 rs527240120 |
999 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA354927375 rs1360482890 |
1000 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1216880047 CA354927400 |
1004 | T>S | No |
ClinGen gnomAD |
1 associated diseases with Q969F9
[MIM: 614072]: Hermansky-Pudlak syndrome 3 (HPS3)
A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. {ECO:0000269|PubMed:11455388, ECO:0000269|PubMed:11590544}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterized by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects. This syndrome results from defects of diverse cytoplasmic organelles including melanosomes, platelet dense granules and lysosomes. Ceroid storage in the lungs is associated with pulmonary fibrosis, a common cause of premature death in individuals with HPS. {ECO:0000269|PubMed:11455388, ECO:0000269|PubMed:11590544}. Note=The disease is caused by variants affecting the gene represented in this entry.
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| BLOC-2 complex | A protein complex required for the biogenesis of specialized organelles of the endosomal-lysosomal system, such as melanosomes and platelet dense granules. The human complex contains the Hps3, Hps5, and Hps6 proteins; the mouse complex contains ru2 and ru. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| early endosome | A membrane-bounded organelle that receives incoming material from primary endocytic vesicles that have been generated by clathrin-dependent and clathrin-independent endocytosis; vesicles fuse with the early endosome to deliver cargo for sorting into recycling or degradation pathways. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| intracellular transport | The directed movement of substances within a cell. |
| melanosome assembly | The aggregation, arrangement and bonding together of a set of components to form a melanosome, a tissue-specific, membrane-bounded cytoplasmic organelle within which melanin pigments are synthesized and stored. |
| organelle organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an organelle within a cell. An organelle is an organized structure of distinctive morphology and function. Includes the nucleus, mitochondria, plastids, vacuoles, vesicles, ribosomes and the cytoskeleton. Excludes the plasma membrane. |
| platelet dense granule organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a platelet dense granule. A platelet dense granule is an electron-dense granule occurring in blood platelets that stores and secretes adenosine nucleotides and serotonin. They contain a highly condensed core consisting of serotonin, histamine, calcium, magnesium, ATP, ADP, pyrophosphate and membrane lysosomal proteins. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MVQLYNLHPF | GSQQVVPCKL | EPDRFCGGGR | DALFVAAGCK | VEAFAVAGQE | LCQPRCAFST |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LGRVLRLAYS | EAGDYLVAIE | EKNKATFLRA | YVNWRNKRTE | NSRVCIRMIG | HNVEGPFSKA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| FRDQMYIIEM | PLSEAPLCIS | CCPVKGDLLV | GCTNKLVLFS | LKYQIINEEF | SLLDFERSLI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| IHIDNITPVE | VSFCVGYVAV | MSDLEVLIVK | LESGPKNGER | VHHHPHKTNN | RIRRTEEGIS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| NEISQLESDD | FVICQKPLEL | LGEKSEQSGL | SVTLESTGLA | DEKRKYSHFQ | HLLYRRFAPD |
| 310 | 320 | 330 | 340 | 350 | 360 |
| ISSYVLSDDI | KLHSLQLLPI | YQTGSLTSDG | KNLSQEKELL | SLFCFFSLPH | VGYLYMVVKS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VELMSVYQYP | EKSQQAVLTP | QFLHVITSNN | LQCFTVRCSA | AAAREEDPYM | DTTLKACPPV |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SMDVCALRIQ | LFIGLKAICH | FKNHIILLTK | AEPEAIPERR | QSPKRLLSRK | DTSVKIKIPP |
| 490 | 500 | 510 | 520 | 530 | 540 |
| VAEAGWNLYI | VNTISPVQLY | KEMVDYSNTY | KTVKTQSCIH | LLSEAHLLVR | AALMDASQLE |
| 550 | 560 | 570 | 580 | 590 | 600 |
| PGEKAELLEA | FKESCGHLGD | CYSRLDSQHS | HLTLPYYKMS | GLSMAEVLAR | TDWTVEDGLQ |
| 610 | 620 | 630 | 640 | 650 | 660 |
| KYERGLIFYI | NHSLYENLDE | ELNEELAAKV | VQMFYVAEPK | QVPHILCSPS | MKNINPLTAM |
| 670 | 680 | 690 | 700 | 710 | 720 |
| SYLRKLDTSG | FSSILVTLTK | AAVALKMGDL | DMHRNEMKSH | SEMKLVCGFI | LEPRLLIQQR |
| 730 | 740 | 750 | 760 | 770 | 780 |
| KGQIVPTELA | LHLKETQPGL | LVASVLGLQK | NNKIGIEEAD | SFFKVLCAKD | EDTIPQLLVD |
| 790 | 800 | 810 | 820 | 830 | 840 |
| FWEAQLVACL | PDVVLQELFF | KLTSQYIWRL | SKRQPPDTTP | LRTSEDLINA | CSHYGLIYPW |
| 850 | 860 | 870 | 880 | 890 | 900 |
| VHVVISSDSL | ADKNYTEDLS | KLQSLICGPS | FDIASIIPFL | EPLSEDTIAG | LSVHVLCRTR |
| 910 | 920 | 930 | 940 | 950 | 960 |
| LKEYEQCIDI | LLERCPEAVI | PYANHELKEE | NRTLWWKKLL | PELCQRIKCG | GEKYQLYLSS |
| 970 | 980 | 990 | 1000 | ||
| LKETLSIVAV | ELELKDFMNV | LPEDGTATFF | LPYLLYCSRK | KPLT |