Q8IY17
PR
Gene name |
PNPLA6 |
Protein name |
Patatin-like phospholipase domain-containing protein 6 |
Names |
Neuropathy target esterase |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10908 |
EC number |
3.1.1.5: Carboxylic ester hydrolases |
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 Q8IY17
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8IY17-F1 | Predicted | AlphaFoldDB |
1111 variants for Q8IY17
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV001753703 rs765249233 RCV000227296 |
1 | M>T | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1418357285 RCV001847149 RCV001074174 |
4 | P>Q | Hereditary spastic paraplegia Retinal dystrophy [ClinVar] | Yes |
ClinVar dbSNP |
|
rs759671675 RCV000269062 CA9139290 |
4 | P>S | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001046027 rs2022812491 |
5 | L>G | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1035379229 RCV001204423 |
5 | L>Q | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA9139342 RCV001131325 rs372169542 |
53 | P>L | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs770929257 RCV001214326 CA9139345 |
59 | L>F | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs867376735 RCV001205962 |
66 | G>R | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000382066 RCV000305384 CA9139351 RCV000471944 rs188353745 RCV001848048 RCV000314678 |
67 | V>A | Mucolipidosis type IV Hereditary spastic paraplegia Hereditary spastic paraplegia 39 Spastic Paraplegia, Recessive [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001658065 RCV000228464 CA9139354 rs112732576 RCV000266445 RCV002500797 RCV001847968 RCV000360128 RCV001711637 |
70 | V>L | Mucolipidosis type IV Hereditary spastic paraplegia Hereditary spastic paraplegia 39 Ataxia-hypogonadism-choroidal dystrophy syndrome Spastic Paraplegia, Recessive [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2022847854 RCV001207404 |
77 | L>F | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA9139371 rs749575421 RCV001350789 |
85 | V>M | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2022862975 RCV001205703 |
98 | F>missing | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001301772 TCGA novel rs769226316 |
125 | T>I | Variant assessed as Somatic; impact. Hereditary spastic paraplegia 39 [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
|
CA9139437 rs147490830 RCV001245355 |
129 | A>T | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP |
|
RCV000374579 rs886054696 CA10643451 |
129 | A>V | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA304863328 RCV001134325 rs865966998 |
155 | T>M | Variant assessed as Somatic; 0.0 impact. Hereditary spastic paraplegia 39 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000261230 rs376396266 CA9139470 |
160 | R>Q | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001351872 rs767940871 RCV002261353 CA9139472 |
166 | A>S | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001063371 CA403101284 rs1370160653 |
174 | E>K | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001233789 CA9139517 rs535890270 |
215 | R>Q | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002538357 RCV000850447 CA9139523 rs777837588 |
225 | P>L | Hereditary spastic paraplegia 39 Marfanoid habitus and intellectual disability [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs150620708 RCV001095519 |
226 | G>C | Amyotrophic lateral sclerosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs150620708 RCV001773553 RCV001244357 CA9139525 |
226 | G>S | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001237565 CA403104279 rs1246188701 |
228 | P>R | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2023070805 RCV001319928 |
245 | P>S | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000479440 RCV001339583 CA9139531 rs765649401 |
246 | G>E | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001507923 RCV001229201 rs763499274 CA9139533 |
247 | P>L | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA345455 VAR_071091 RCV000087301 rs587777184 |
263 | V>I | Variant assessed as Somatic; impact. Hereditary spastic paraplegia 39 SPG39 [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt NCI-TCGA TOPMed dbSNP |
|
RCV001343191 rs2023091581 |
270 | L>R | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA9139591 RCV001201928 rs746313026 |
290 | D>G | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001847144 rs756180538 CA9139603 RCV002555823 RCV001063537 |
303 | A>V | Hereditary spastic paraplegia Hereditary spastic paraplegia 39 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000415321 rs1057518936 CA16043563 |
309 | P>A | Hypogonadotropic hypogonadism 7 with or without anosmia [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1057518936 RCV001059737 |
309 | P>T | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA304864234 RCV001352232 rs866964055 |
314 | R>W | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001304756 rs2023131773 |
322 | R>Q | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs745677326 CA9139659 RCV000792053 |
350 | R>L | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000712777 CA9139666 rs751885710 RCV001861977 |
361 | T>P | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs948393107 RCV001297837 CA304864551 |
369 | R>K | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA9139670 RCV001211720 rs756600765 |
372 | S>N | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001227145 rs533164657 CA9139671 |
375 | A>P | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1490230776 RCV001352579 |
377 | D>E | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs200897068 RCV001325161 |
379 | P>H | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs200897068 RCV000863645 CA9139673 RCV001577509 |
379 | P>L | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001222451 CA403109804 rs1163920380 |
384 | G>E | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs780122556 CA403109815 RCV001038194 |
385 | R>W | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1372004040 CA403109858 RCV001298625 |
388 | D>N | Variant assessed as Somatic; impact. Hereditary spastic paraplegia 39 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
RCV000449492 RCV001848798 RCV001042164 CA9139712 rs372193709 |
411 | S>L | Hereditary spastic paraplegia Variant assessed as Somatic; 0.0 impact. Hereditary spastic paraplegia 39 Peripheral neuropathy [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001847706 RCV000386271 RCV000117998 CA154706 RCV000992666 VAR_032949 rs17854645 |
412 | A>P | Hereditary spastic paraplegia Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP |
|
RCV001208614 RCV002561693 rs765307463 |
414 | L>missing | Hereditary spastic paraplegia 39 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
CA304864899 RCV001318860 rs998008899 |
417 | R>C | Hereditary spastic paraplegia 39 Variant assessed as Somatic; 5.947e-05 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA9139718 RCV001128801 rs150500586 |
417 | R>H | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000686893 rs150500586 CA9139719 |
417 | R>L | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000712779 CA9139720 RCV001056230 rs369465821 |
419 | V>I | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000144694 rs587777853 |
424 | D>missing | Ataxia-hypogonadism-choroidal dystrophy syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA403110650 RCV001074173 rs1238038334 |
425 | I>V | Retinal dystrophy [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001312389 CA403111516 rs1245401993 |
432 | P>R | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000548038 CA9139750 rs763561590 RCV002526165 |
433 | R>C | Hereditary spastic paraplegia 39 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001295090 rs369286019 CA9139751 |
433 | R>H | Variant assessed as Somatic; 0.0 impact. Hereditary spastic paraplegia 39 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA9139757 rs373050796 RCV001061063 |
440 | Y>C | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV001213086 CA304866495 rs376174058 |
444 | R>Q | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV001318392 rs752915572 CA9139761 |
447 | V>M | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2023204790 RCV001240898 |
450 | Q>* | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1599277847 RCV000811141 CA403111921 |
453 | A>D | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001131467 CA9139768 CA9139767 rs573529919 RCV001847167 RCV002558275 |
455 | G>R | Hereditary spastic paraplegia Hereditary spastic paraplegia 39 Inborn genetic diseases Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD NCI-TCGA |
|
CA304866578 rs373883256 RCV001233593 |
456 | G>R | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA9139774 RCV001246814 rs144028775 RCV002069313 |
457 | S>C | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001083172 CA9139778 RCV000712780 rs761591000 |
462 | A>T | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000591806 RCV001320816 rs762850838 |
469 | P>missing | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA9139805 rs375366178 RCV001344971 RCV000419980 |
469 | P>L | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000516407 CA403113279 RCV001857918 rs1555745911 |
485 | E>D | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001321274 rs2023217607 |
486 | S>A | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA9139813 RCV001535780 rs140929996 RCV000687606 RCV002227486 |
486 | S>L | Hereditary spastic paraplegia 39 Ataxia-hypogonadism-choroidal dystrophy syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs937353646 CA304866784 RCV001300114 |
492 | P>L | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001084647 RCV000515015 rs145191932 CA9139820 RCV001847963 RCV000280617 |
495 | P>L | Hereditary spastic paraplegia Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001343875 rs2023219350 |
497 | Q>L | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA403113795 RCV001053042 rs1458269938 |
499 | R>C | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs372128647 RCV000536479 CA9139826 |
506 | E>Q | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs375397452 RCV000660384 RCV001321547 CA9139827 |
507 | A>T | Ataxia-hypogonadism-choroidal dystrophy syndrome Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs777484615 CA9139831 COSM1195284 RCV000457865 |
517 | R>W | lung Hereditary spastic paraplegia 39 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
RCV001052062 CA304866834 rs1017141420 |
519 | E>V | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1351660925 RCV002275344 RCV001304144 CA403114708 |
522 | S>F | Variant assessed as Somatic; 0.0 impact. Hereditary spastic paraplegia 39 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
CA9139866 COSM2728961 COSM2728960 RCV000646159 rs763642095 RCV000483365 |
533 | A>T | central_nervous_system Hereditary spastic paraplegia 39 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA9139870 rs745665473 RCV000343435 |
541 | R>C | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA403119498 rs1568415448 RCV000695444 |
569 | D>N | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA9139905 RCV001301644 rs777182371 |
574 | V>I | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2023573612 RCV001351987 |
577 | P>A | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587777615 VAR_071092 RCV000133462 CA345762 |
578 | G>W | Ataxia-hypogonadism-choroidal dystrophy syndrome BNHS [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA9139917 rs757260835 RCV001349841 |
596 | L>V | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001331612 rs2023576110 |
599 | Q>P | Laurence-Moon syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000995612 rs568356836 COSM1221386 CA9139954 COSM1221387 RCV001644886 |
627 | A>V | large_intestine Ataxia-hypogonadism-choroidal dystrophy syndrome Hereditary spastic paraplegia 39 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1484050135 RCV001060134 CA403122463 |
635 | S>A | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001134445 rs2023589639 |
637 | F>L | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001341283 rs2023598783 |
670 | L>R | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA403123395 rs1568416066 RCV000686509 |
671 | N>K | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002549287 rs765221332 RCV001008380 |
682 | S>missing | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2023600344 RCV001135914 |
686 | E>D | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2023621348 RCV001248439 |
717 | D>H | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1425497937 RCV000813416 RCV001759575 CA403124627 |
725 | E>D | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
| VAR_073409 | 726 | G>R | LNMS [UniProt] | Yes | UniProt |
|
rs2023644797 RCV001295913 |
756 | Q>E | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA403126662 rs1354212753 RCV001128918 |
792 | A>T | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000516319 RCV000487803 CA9140064 RCV001848857 RCV000613986 rs145988230 |
797 | V>M | Hereditary spastic paraplegia Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA9140070 RCV001128919 rs144206674 |
806 | A>S | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1009954378 RCV002546962 RCV001342611 CA304878509 |
812 | P>L | Variant assessed as Somatic; 0.0 impact. Hereditary spastic paraplegia 39 Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
rs1555749683 RCV000525529 |
813 | T>missing | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA304878510 RCV001060507 rs374789348 |
813 | T>M | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV001586143 CA9140105 rs531445564 RCV001350677 |
824 | R>C | Variant assessed as Somatic; 0.0 impact. Hereditary spastic paraplegia 39 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002275129 rs756542477 RCV000690203 |
838 | L>missing | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA150712 RCV000087302 rs587777185 VAR_071093 |
840 | G>E | Hereditary spastic paraplegia 39 SPG39 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA403128564 RCV001766388 RCV000646160 rs1244234383 |
840 | G>R | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000996726 RCV001316241 rs1599303242 CA403128674 RCV003160136 |
850 | R>C | Hereditary spastic paraplegia 39 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000355065 rs748903229 CA9140141 |
853 | L>V | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001202398 rs774188638 |
855 | Q>E | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001347077 rs760534400 CA9140147 |
858 | A>V | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs775179789 CA9140164 RCV000260175 |
881 | D>E | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA403129077 rs1333226218 RCV001298284 |
885 | T>P | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA403129647 RCV001319905 rs1319203305 |
913 | A>V | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001234297 rs2023809980 |
926 | S>G | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA403130049 rs765924753 RCV001206288 |
938 | R>C | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
VAR_044409 rs121434416 RCV000006985 CA118370 |
938 | R>H | Variant assessed as Somatic; impact. Hereditary spastic paraplegia 39 SPG39 [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV000779271 rs1568420077 |
945 | S>missing | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001309511 CA304879302 rs958813626 |
955 | K>E | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001064955 rs2023826142 |
962 | D>G | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA9140252 rs10411650 RCV001212306 |
962 | D>H | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001296153 rs2023828884 |
980 | A>T | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2023829631 RCV001207768 |
984 | G>V | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA403130971 RCV000812187 rs1599305317 |
985 | G>E | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1161640444 CA403131001 RCV001057723 |
987 | G>R | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA9140284 rs201902695 RCV000705033 RCV001592904 |
990 | G>A | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1335354975 RCV001060765 CA403131722 |
1015 | I>F | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002554562 rs775899903 RCV001847147 CA9140298 RCV001069071 |
1017 | S>A | Hereditary spastic paraplegia Hereditary spastic paraplegia 39 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA9140300 RCV002555975 rs768107851 RCV001095520 |
1020 | G>R | Hereditary spastic paraplegia 39 Amyotrophic lateral sclerosis [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA9140301 RCV001343843 rs776289656 |
1021 | A>V | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs606231167 RCV001847592 RCV000162351 RCV002476938 RCV000627436 RCV000162350 RCV001559126 RCV000006986 RCV000779272 RCV001266496 |
1031 | R>missing | PNPLA6-related disorders Hereditary spastic paraplegia Trichomegaly-retina pigmentary degeneration-dwarfism syndrome Ataxia-hypogonadism-choroidal dystrophy syndrome Hereditary spastic paraplegia 39 Laurence-Moon syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
CA9140341 RCV002519800 RCV000765481 RCV000233462 rs377449787 |
1042 | S>T | Ataxia-hypogonadism-choroidal dystrophy syndrome Hereditary spastic paraplegia 39 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs541098659 VAR_071094 CA9140343 |
1045 | S>L | Variant assessed as Somatic; 0.0 impact. BNHS [NCI-TCGA, UniProt] | Yes |
ClinGen UniProt 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA9140346 rs765313440 RCV001314782 |
1047 | L>V | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001208520 RCV000722499 CA403133010 rs1291359628 |
1051 | L>S | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
VAR_071095 RCV000087297 RCV001854508 rs587777181 CA150705 |
1058 | T>I | Ataxia-hypogonadism-choroidal dystrophy syndrome Hereditary spastic paraplegia 39 BNHS [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001559128 rs121434415 VAR_044410 CA118368 RCV000006984 |
1060 | M>V | Hereditary spastic paraplegia 39 Ataxia-hypogonadism-choroidal dystrophy syndrome SPG39 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
CA150710 RCV000087300 rs587777183 VAR_071096 |
1066 | F>S | Ataxia-hypogonadism-choroidal dystrophy syndrome BNHS [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs753273617 RCV001071428 CA9140353 RCV001760056 |
1071 | H>Y | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs375118832 RCV001326687 CA9140355 |
1072 | R>W | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs786201037 RCV001092940 RCV000162354 RCV002515124 VAR_073410 RCV001559129 CA186152 |
1099 | R>Q | Trichomegaly-retina pigmentary degeneration-dwarfism syndrome Hereditary spastic paraplegia 39 Ataxia-hypogonadism-choroidal dystrophy syndrome OMCS [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs754429587 CA403133549 RCV001266497 |
1100 | V>G | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA9140421 RCV001236547 rs756056332 |
1108 | R>Q | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002515780 rs587777182 RCV001196947 RCV000087299 VAR_071098 CA150708 |
1110 | V>M | Trichomegaly-retina pigmentary degeneration-dwarfism syndrome Hereditary spastic paraplegia 39 Ataxia-hypogonadism-choroidal dystrophy syndrome BNHS [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV000692309 rs756591718 |
1111 | R>missing | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA403133730 RCV001059736 rs1236012815 |
1112 | A>T | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA403133770 RCV000686819 rs1202026658 RCV002051883 |
1115 | T>M | Variant assessed as Somatic; 0.0 impact. Hereditary spastic paraplegia 39 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs748506175 VAR_071099 CA9140430 |
1122 | P>L | BNHS [UniProt] | Yes |
ClinGen UniProt ExAC dbSNP gnomAD |
|
RCV001303054 rs748506175 |
1122 | P>Q | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1210970179 RCV001226390 |
1123 | L>M | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA9140433 RCV000470254 rs762434726 |
1125 | D>G | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs773955314 CA9140435 RCV001643173 CA403133910 RCV000466086 RCV002290969 RCV001821279 VAR_073411 |
1129 | G>R | Trichomegaly-retina pigmentary degeneration-dwarfism syndrome Ataxia-hypogonadism-choroidal dystrophy syndrome Hereditary spastic paraplegia 39 OMCS [ClinVar, UniProt] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD UniProt |
|
RCV001847246 rs1361220718 CA403134454 RCV001345782 |
1143 | A>V | Hereditary spastic paraplegia Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001071909 rs765257753 CA9140484 |
1146 | A>T | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
COSM1003285 rs587777854 RCV000144695 RCV003114288 VAR_073412 CA170918 COSM1590421 |
1147 | R>C | Variant assessed as Somatic; 0.0 impact. skin endometrium Ataxia-hypogonadism-choroidal dystrophy syndrome Hereditary spastic paraplegia 39 BNHS [NCI-TCGA, Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs142294971 RCV001339473 CA9140487 |
1153 | T>M | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000820360 rs754198302 CA9140490 |
1157 | I>V | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001304699 rs1176067979 CA403134684 |
1164 | E>G | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
VAR_073413 rs1555751592 CA403134806 |
1175 | S>C | BNHS [UniProt] | Yes |
ClinGen UniProt Ensembl dbSNP |
|
rs142422525 RCV001242294 VAR_073414 RCV000162353 CA186150 RCV001268592 |
1176 | G>S | Trichomegaly-retina pigmentary degeneration-dwarfism syndrome Hereditary spastic paraplegia 39 OMCS [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs1555751597 RCV000539525 CA403134838 |
1178 | W>* | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000696127 rs1057517802 CA16043120 RCV001376230 RCV000413765 |
1183 | R>Q | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA9140502 rs766389806 RCV000814583 RCV003153854 |
1183 | R>W | Variant assessed as Somatic; 0.0 impact. Hereditary spastic paraplegia 39 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001218498 CA9140507 rs757555345 |
1193 | V>G | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs746492824 RCV001236282 CA9140512 |
1207 | S>Y | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs754590075 RCV001338478 RCV002473272 CA9140513 |
1210 | R>W | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001049696 VAR_073415 CA403135483 rs1211079280 |
1215 | V>A | Hereditary spastic paraplegia 39 OMCS [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
rs138454923 RCV001038872 CA9140521 |
1222 | E>K | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001135997 rs2024003949 |
1223 | Y>C | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002564070 CA9140526 RCV001243647 rs762047744 |
1226 | P>L | Hereditary spastic paraplegia 39 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001345216 RCV000761983 rs370060935 CA9140530 |
1229 | D>N | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001237442 rs780878126 CA9140533 |
1237 | G>V | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA9140534 rs747752100 RCV001070111 |
1240 | D>N | Variant assessed as Somatic; 0.0 impact. Hereditary spastic paraplegia 39 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000585501 RCV000464478 RCV000517395 rs375024068 CA9140535 |
1241 | Q>E | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA9140558 RCV002245664 rs143072391 RCV000779273 RCV002536857 |
1248 | Q>E | Hereditary spastic paraplegia 39 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA9140559 RCV001232293 rs143072391 |
1248 | Q>K | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001220814 rs1347589242 |
1251 | K>N | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002516326 RCV000233673 CA9140562 rs755872517 |
1252 | A>T | Hereditary spastic paraplegia 39 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA9140567 rs768125081 RCV001326923 |
1257 | W>R | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001051886 CA403137575 rs1000008449 RCV002553269 |
1258 | S>R | Hereditary spastic paraplegia 39 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001331613 CA9140569 RCV001297699 rs760038069 |
1259 | R>H | Hereditary spastic paraplegia 39 Laurence-Moon syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA9140571 RCV001219144 rs753386551 |
1262 | V>I | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000228637 CA10583869 rs878854905 |
1266 | M>I | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001344491 rs758242525 CA9140575 |
1270 | R>Q | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1354670102 CA403137792 RCV002473216 RCV001205900 |
1271 | R>Q | Variant assessed as Somatic; 0.0 impact. Hereditary spastic paraplegia 39 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV001543520 RCV001313282 rs2024064953 |
1279 | R>C | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003159674 CA9140579 rs140155524 RCV000522908 |
1279 | R>H | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA403138190 rs1164847477 RCV001129028 |
1283 | V>M | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA9140616 rs764729340 RCV001232064 |
1300 | R>Q | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000527999 CA9140615 rs369159451 |
1300 | R>W | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000646161 rs758549829 CA9140621 |
1305 | T>M | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1060502664 RCV000462018 |
1319 | D>missing | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001067014 rs2024087885 |
1323 | E>A | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001131715 rs140568070 RCV001849475 CA9140651 |
1329 | G>R | Variant assessed as Somatic; 0.0 impact. Hereditary spastic paraplegia 39 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001221899 CA403139448 rs1269084486 |
1335 | D>N | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001237672 rs2024089279 |
1336 | E>A | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555752329 CA403139514 RCV000553505 |
1337 | G>W | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001054280 rs753221489 |
1339 | S>missing | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA403139624 rs1385761016 RCV001131717 |
1343 | A>E | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001535779 RCV002293441 RCV000470003 rs151264767 CA9140664 |
1345 | P>S | Hereditary spastic paraplegia 39 Ataxia-hypogonadism-choroidal dystrophy syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001213008 rs376402887 RCV002562389 CA9140668 |
1350 | E>K | Hereditary spastic paraplegia 39 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_073416 RCV000415064 RCV001643137 rs374434303 CA9140693 RCV001861448 RCV001268258 RCV000414761 |
1359 | R>W | Ataxia-hypogonadism-choroidal dystrophy syndrome Hereditary spastic paraplegia 39 Hypogonadotropic hypogonadism 7 with or without anosmia BNHS [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs2024100609 RCV001054821 |
1362 | R>H | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000489232 rs746687452 RCV001056938 CA9140697 |
1362 | R>H | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs746687452 CA9140698 RCV001321183 |
1362 | R>P | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001295760 RCV002305592 rs150392453 CA9140700 |
1364 | L>V | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1198155966 RCV001299534 |
1367 | E>D | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000861262 RCV000518428 rs116012798 CA9140701 |
1368 | P>L | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001847951 RCV001079450 RCV000224252 CA9140705 RCV000266021 rs145178162 |
1370 | G>S | Hereditary spastic paraplegia Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001298759 rs2024103130 |
1376 | A>E | Hereditary spastic paraplegia 39 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs774226322 CA9139289 |
3 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1418357285 CA403093446 |
4 | P>L | No |
ClinGen gnomAD |
|
|
CA403093452 rs1035379229 |
5 | L>P | No |
ClinGen gnomAD |
|
|
CA304859646 rs1035379229 |
5 | L>R | No |
ClinGen gnomAD |
|
|
rs1002975344 CA304859640 |
5 | L>V | No |
ClinGen gnomAD |
|
|
CA9139293 rs752959129 |
9 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9139292 rs767760553 |
9 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA304859691 rs767760553 |
9 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1426439155 CA403093931 |
11 | G>E | No |
ClinGen TOPMed |
|
| TCGA novel | 11 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA304860066 rs375243281 |
12 | T>S | No |
ClinGen ESP TOPMed |
|
|
CA9139323 rs747810712 |
15 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs1238018035 CA403094040 |
15 | H>Y | No |
ClinGen gnomAD |
|
|
CA304860092 rs1019685884 |
16 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA403094094 rs1019685884 |
16 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs769621958 CA9139324 CA304860078 |
16 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304860088 rs769621958 |
16 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1264373126 CA403094128 |
18 | A>P | No |
ClinGen gnomAD |
|
|
CA9139325 rs777466386 |
19 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749218773 CA9139326 |
20 | N>T | No |
ClinGen ExAC TOPMed |
|
|
rs1568403617 CA403094210 |
20 | N>Y | No |
ClinGen Ensembl |
|
|
RCV000599030 CA9139327 rs771019262 |
22 | S>* | No |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
|
rs1421803435 CA403094291 |
23 | G>E | No |
ClinGen gnomAD |
|
|
rs570742880 CA9139329 |
26 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9139328 rs775673669 |
26 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403094391 rs775673669 |
26 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9139330 rs768704457 |
27 | A>P | No |
ClinGen ExAC |
|
|
rs1290544878 CA403094441 |
28 | E>* | No |
ClinGen gnomAD |
|
|
CA403094520 rs1447670303 |
29 | R>S | No |
ClinGen TOPMed |
|
|
CA304860122 rs774415666 |
30 | D>N | No |
ClinGen Ensembl |
|
|
CA304860135 rs914512235 |
33 | Q>* | No |
ClinGen gnomAD |
|
|
CA304860138 rs1044676031 |
34 | D>G | No |
ClinGen gnomAD |
|
|
CA304860137 rs947342898 |
34 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA403094702 rs1220074088 |
35 | V>D | No |
ClinGen gnomAD |
|
|
CA403094695 rs1319394454 |
35 | V>I | No |
ClinGen gnomAD |
|
|
rs1599262970 CA403094749 |
36 | L>R | No |
ClinGen Ensembl |
|
|
CA9139335 rs574148850 |
38 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1193421885 CA403094806 |
39 | G>R | No |
ClinGen gnomAD |
|
|
rs1182661908 CA403094852 |
40 | E>G | No |
ClinGen gnomAD |
|
|
CA9139336 rs763407713 |
40 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1056939040 CA304860159 |
41 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA9139337 rs563334501 |
41 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1056939040 CA403094924 |
41 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs751010496 CA9139338 |
42 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1418966300 CA403094958 |
43 | A>T | No |
ClinGen gnomAD |
|
|
CA9139339 rs368578158 |
48 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs867547103 CA304860185 |
48 | G>D | No |
ClinGen Ensembl |
|
|
rs780629364 CA403095074 |
49 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403095073 rs1376976303 |
49 | A>S | No |
ClinGen gnomAD |
|
|
rs1376976303 CA403095071 |
49 | A>T | No |
ClinGen gnomAD |
|
|
CA9139340 rs780629364 |
49 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1169497972 CA403095111 |
50 | Q>K | No |
ClinGen gnomAD |
|
|
RCV001812922 rs2022842151 |
51 | P>S | No |
ClinVar dbSNP |
|
|
rs908461148 CA304860199 |
53 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA403095955 rs1284411185 |
55 | V>F | No |
ClinGen gnomAD |
|
|
CA9139344 rs749129099 |
56 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs777579622 CA9139343 |
56 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748025799 CA304860225 |
59 | L>R | No |
ClinGen Ensembl |
|
|
rs1227367891 CA403096098 |
60 | G>D | No |
ClinGen TOPMed |
|
|
CA403096105 rs1179046687 |
61 | V>M | No |
ClinGen gnomAD |
|
|
rs1380428189 CA403096175 |
63 | I>F | No |
ClinGen TOPMed |
|
|
rs1380428189 CA403096167 |
63 | I>L | No |
ClinGen TOPMed |
|
|
CA403096174 rs1380428189 |
63 | I>V | No |
ClinGen TOPMed |
|
|
CA9139348 rs745860694 |
64 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs146421269 CA304860236 |
65 | A>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA403096251 rs1370447514 |
65 | A>V | No |
ClinGen TOPMed |
|
|
CA304860239 rs867376735 |
66 | G>* | No |
ClinGen gnomAD |
|
|
CA9139350 rs776614485 |
67 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1331444810 CA403096361 |
68 | A>E | No |
ClinGen gnomAD |
|
|
rs1331444810 CA403096350 |
68 | A>V | No |
ClinGen gnomAD |
|
|
CA9139353 rs773497620 |
69 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs769940615 CA9139352 |
69 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA9139355 rs766785139 |
70 | V>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 71 | V>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA304860284 rs964910024 |
72 | T>M | No |
ClinGen TOPMed |
|
|
CA403096492 rs1206804100 |
73 | A>T | No |
ClinGen gnomAD |
|
|
CA403096527 rs1250896472 |
74 | V>M | No |
ClinGen TOPMed |
|
| TCGA novel | 75 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1053077306 CA304860320 |
77 | L>R | No |
ClinGen TOPMed |
|
|
rs781291417 CA9139367 |
82 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403096936 rs1170936253 |
84 | R>* | No |
ClinGen gnomAD |
|
|
CA403097308 rs1476638109 |
88 | T>N | No |
ClinGen gnomAD |
|
|
CA9139392 rs772575811 |
89 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761312306 CA9139394 |
90 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304860583 rs1052800312 |
94 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA304860582 rs1030473292 |
94 | P>T | No |
ClinGen Ensembl |
|
|
COSM3723121 COSM3723122 CA9139396 rs776332081 |
95 | R>Q | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1255862253 CA403097646 |
96 | Y>* | No |
ClinGen TOPMed |
|
|
CA403097664 rs1289016055 |
97 | R>Q | No |
ClinGen Ensembl |
|
| TCGA novel | 100 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403098091 rs1341188649 |
108 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 110 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403098172 rs1282451359 |
111 | I>F | No |
ClinGen gnomAD |
|
|
rs909622359 CA304860842 |
120 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs909622359 CA403098596 |
120 | S>Y | No |
ClinGen gnomAD |
|
|
CA403098610 rs1193422027 |
121 | S>T | No |
ClinGen gnomAD |
|
|
CA9139432 rs780234609 |
122 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA403098672 rs1275173256 |
123 | V>M | No |
ClinGen TOPMed |
|
|
rs769226316 CA9139435 |
125 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA403098820 rs886054696 |
129 | A>G | No |
ClinGen gnomAD |
|
|
CA403098883 rs1264673659 |
130 | T>I | No |
ClinGen TOPMed |
|
|
rs113349608 CA304860865 |
131 | S>A | No |
ClinGen Ensembl |
|
| TCGA novel | 131 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762461650 CA9139440 |
134 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs770644846 CA9139441 |
135 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA9139442 rs368029801 |
136 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759341701 CA403099046 |
136 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403099059 rs1275829665 |
137 | K>* | No |
ClinGen gnomAD |
|
|
CA403099062 rs1335874599 |
137 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 140 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 146 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000722547 rs1568407023 |
150 | R>missing | No |
ClinVar dbSNP |
|
|
CA9139466 rs764125789 |
150 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA9139467 rs773099865 |
150 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs773099865 CA304863323 |
150 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304863326 rs868697445 |
152 | Q>K | No |
ClinGen Ensembl |
|
|
rs983462140 CA304863347 |
157 | T>A | No |
ClinGen TOPMed |
|
|
rs1438952854 CA403100881 |
157 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA403100899 rs1426922559 |
158 | L>P | No |
ClinGen gnomAD |
|
|
rs924207953 CA304863358 |
160 | R>W | No |
ClinGen Ensembl |
|
|
CA403101070 rs1403318450 |
164 | P>L | No |
ClinGen gnomAD |
|
|
rs767940871 CA9139473 |
166 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001095521 rs2023055005 |
170 | A>missing | No |
ClinVar dbSNP |
|
|
rs1220080233 CA403101317 |
174 | E>D | No |
ClinGen gnomAD |
|
|
rs1200625604 CA403102649 |
183 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 191 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1225361978 CA403103255 |
195 | V>L | No |
ClinGen gnomAD |
|
|
CA403103495 rs1489134518 |
202 | P>S | No |
ClinGen gnomAD |
|
|
rs1457152564 CA403103601 |
204 | F>C | No |
ClinGen gnomAD |
|
|
CA403103613 rs1444870210 |
205 | L>M | No |
ClinGen gnomAD |
|
|
rs749879325 CA9139515 |
209 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1163488767 CA403103877 |
214 | Q>* | No |
ClinGen gnomAD |
|
|
CA9139518 rs751202036 RCV000992668 |
216 | L>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1336321413 CA403103992 |
217 | G>D | No |
ClinGen gnomAD |
|
|
rs1599272052 CA403104006 |
218 | Q>P | No |
ClinGen Ensembl |
|
|
rs780995803 CA9139520 |
219 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA304863539 rs1018645754 |
222 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs769793855 CA9139522 |
224 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403104175 rs1240624512 |
224 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA9139526 rs534775987 |
227 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1442027160 CA403104466 |
234 | V>M | No |
ClinGen gnomAD |
|
|
CA403104557 rs1599272157 |
235 | V>G | No |
ClinGen Ensembl |
|
|
CA403104567 rs1363584164 |
236 | Q>* | No |
ClinGen gnomAD |
|
|
rs1363584164 CA403104560 RCV000516523 |
236 | Q>K | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA403104598 rs1174515690 |
238 | G>R | No |
ClinGen gnomAD |
|
|
CA403104613 rs1469380750 |
239 | L>V | No |
ClinGen gnomAD |
|
|
rs1398640691 CA403104633 |
240 | L>V | No |
ClinGen gnomAD |
|
|
rs111278968 CA304863556 |
242 | L>P | No |
ClinGen gnomAD |
|
|
CA403104781 rs1240081108 |
244 | L>P | No |
ClinGen TOPMed |
|
|
CA304863577 rs763499274 |
247 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304863834 rs867030351 |
249 | G>E | No |
ClinGen Ensembl |
|
|
rs1429166549 CA403105203 |
252 | C>G | No |
ClinGen gnomAD |
|
|
CA9139550 rs773587782 |
256 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403105469 rs1459319427 |
261 | D>Y | No |
ClinGen gnomAD |
|
|
rs1364724170 CA403105584 |
265 | S>R | No |
ClinGen gnomAD |
|
|
rs1198987570 CA403105602 |
266 | L>R | No |
ClinGen gnomAD |
|
|
CA9139554 rs767119455 |
272 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304863876 rs930635227 |
273 | I>T | No |
ClinGen Ensembl |
|
|
COSM1680572 COSM1680571 rs777955057 CA9139586 |
275 | G>R | breast [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs749575342 CA9139587 |
278 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9139588 rs771167270 |
279 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1382702507 CA403106012 |
279 | P>S | No |
ClinGen gnomAD |
|
|
CA403106054 rs1281699720 |
280 | Q>H | No |
ClinGen gnomAD |
|
|
CA403106117 rs1305177616 |
283 | V>L | No |
ClinGen gnomAD |
|
|
CA403106163 rs1275934806 |
284 | S>F | No |
ClinGen gnomAD |
|
|
rs1314118399 CA403106201 |
286 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1314118399 CA403106207 |
286 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA403106210 rs1204396839 |
287 | A>T | No |
ClinGen gnomAD |
|
|
CA403106238 rs1433313104 |
287 | A>V | No |
ClinGen TOPMed |
|
| TCGA novel | 288 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403106253 rs1459975794 |
288 | A>V | No |
ClinGen gnomAD |
|
|
CA403106257 rs779386400 |
289 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1176299190 CA403106265 |
289 | R>Q | No |
ClinGen TOPMed |
|
|
CA9139590 rs779386400 |
289 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1200437017 CA403106289 |
290 | D>Y | No |
ClinGen gnomAD |
|
|
CA304864143 rs772665971 |
292 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9139592 rs772665971 |
292 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1209232493 CA403106435 |
294 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA403106437 rs1209232493 |
294 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1057094403 CA304864156 |
295 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA9139595 rs199798011 |
295 | R>P | No |
ClinGen ExAC gnomAD |
|
|
COSM3389510 rs776421268 COSM3389509 CA9139596 |
297 | P>L | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs764890160 CA9139598 |
300 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs146126523 CA9139599 |
301 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9139600 rs762728805 |
301 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA403106654 rs1441967962 |
302 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA403106646 rs1441967962 |
302 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA9139602 rs751555397 |
303 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1282788048 CA403106674 |
304 | V>F | No |
ClinGen gnomAD |
|
|
rs1282788048 CA403106672 |
304 | V>I | No |
ClinGen gnomAD |
|
|
CA403106754 rs777868937 |
306 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA9139604 rs777868937 |
306 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA403106843 rs1568408269 |
308 | Y>* | No |
ClinGen Ensembl |
|
|
CA403106813 rs1224769122 |
308 | Y>H | No |
ClinGen gnomAD |
|
|
rs753983870 CA9139605 |
309 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1216733185 CA403107086 |
312 | L>S | No |
ClinGen TOPMed |
|
| TCGA novel | 316 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs934487299 CA304864254 |
316 | V>M | No |
ClinGen Ensembl |
|
|
rs947135990 CA304864374 |
320 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA403107749 rs1289246978 |
324 | Q>P | No |
ClinGen gnomAD |
|
|
CA403107791 rs1205336479 |
325 | R>P | No |
ClinGen gnomAD |
|
|
rs1183371584 CA403108198 |
339 | N>S | No |
ClinGen gnomAD |
|
| rs769241929 | 344 | H>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1221113503 CA403108706 |
346 | I>F | No |
ClinGen gnomAD |
|
|
rs748888087 CA304864485 |
348 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs748888087 COSM1711702 COSM1711701 CA9139654 |
348 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs778613851 CA9139656 |
350 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs745677326 CA9139657 |
350 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA9139658 rs745677326 |
350 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA403108893 rs1201825806 |
352 | F>L | No |
ClinGen gnomAD |
|
|
rs1322500958 CA403108920 |
353 | P>L | No |
ClinGen TOPMed |
|
|
CA403108979 rs1480167412 |
355 | P>S | No |
ClinGen gnomAD |
|
|
CA9139660 rs760573469 |
356 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403109076 rs1462373079 |
358 | P>S | No |
ClinGen gnomAD |
|
|
CA9139661 rs367652625 |
359 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs370328961 CA9139662 |
359 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370328961 CA304864520 |
359 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763199334 CA403109138 |
360 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763199334 CA403109152 |
360 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763199334 CA9139664 |
360 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304864542 rs374546823 |
362 | S>R | No |
ClinGen ESP TOPMed |
|
|
rs1309856946 CA403109260 |
363 | P>A | No |
ClinGen gnomAD |
|
|
CA403109293 rs1228780002 |
363 | P>L | No |
ClinGen gnomAD |
|
|
CA403109273 RCV000712778 rs1309856946 |
363 | P>S | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA403109298 rs1182298822 |
364 | V>M | No |
ClinGen TOPMed |
|
|
rs1444621209 CA403109347 |
365 | R>L | No |
ClinGen TOPMed |
|
|
rs1444621209 CA403109345 |
365 | R>P | No |
ClinGen TOPMed |
|
|
rs767812620 CA9139668 |
365 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs753225629 CA9139669 |
366 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1212382450 CA403109441 |
368 | K>N | No |
ClinGen TOPMed |
|
| TCGA novel | 374 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9139672 rs753353345 |
378 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA403109726 rs753353345 |
378 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs867211179 CA304864563 |
380 | R>M | No |
ClinGen Ensembl |
|
|
rs1180388654 CA403109755 |
381 | E>K | No |
ClinGen Ensembl |
|
|
CA9139674 rs778523909 |
382 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9139676 rs771873138 |
383 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs867497531 CA304864577 |
383 | P>T | No |
ClinGen Ensembl |
|
|
rs1426342690 CA403109798 |
384 | G>R | No |
ClinGen gnomAD |
|
|
CA9139678 rs746918859 |
386 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA304864595 rs768479733 |
387 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403109844 rs1362018954 |
387 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA403109836 rs768479733 |
387 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9139679 rs768479733 |
387 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1568409015 CA403109877 |
389 | P>A | No |
ClinGen Ensembl |
|
|
CA9139680 rs773365134 |
389 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs773365134 CA403109889 |
389 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA403109910 CA403109912 rs1248639336 |
391 | G>R | No |
ClinGen gnomAD |
|
|
rs774683671 CA403109929 |
392 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9139683 rs774683671 |
392 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9139684 rs759886083 |
393 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1262607946 CA403109949 |
393 | P>S | No |
ClinGen gnomAD |
|
|
CA403109987 rs1446302318 |
395 | P>S | No |
ClinGen gnomAD |
|
|
rs1184041673 CA403110031 |
397 | P>L | No |
ClinGen gnomAD |
|
|
CA9139686 rs753033234 |
399 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA9139703 rs772187334 |
400 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs760936292 CA9139705 |
401 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs747540497 CA304864828 |
402 | V>E | No |
ClinGen Ensembl |
|
|
rs764509267 CA9139706 |
403 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA9139708 rs529887259 |
404 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs529887259 CA403110335 |
404 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs777094785 CA9139707 |
404 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1409484495 CA403110337 |
405 | T>A | No |
ClinGen gnomAD |
|
|
CA304864843 rs867504421 |
406 | S>F | No |
ClinGen Ensembl |
|
|
CA403110421 rs1306432122 |
409 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA403110414 rs1306432122 |
409 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA403110428 rs764680494 |
410 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9139709 rs764680494 |
410 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372193709 CA9139711 |
411 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs17854645 CA9139715 |
412 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed |
|
|
rs1202700642 CA403110509 |
415 | L>M | No |
ClinGen gnomAD |
|
| TCGA novel | 417 | R>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1032668743 CA403110570 |
418 | C>W | No |
ClinGen TOPMed gnomAD |
|
|
CA9139721 rs369465821 |
419 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1010222129 CA304864937 |
420 | S>F | No |
ClinGen Ensembl |
|
|
rs1182861534 CA403110592 |
421 | M>L | No |
ClinGen TOPMed |
|
|
CA304864953 rs768468367 |
422 | P>S | No |
ClinGen Ensembl |
|
|
CA403110618 rs1420792590 |
423 | G>R | No |
ClinGen gnomAD |
|
|
CA304864970 rs1021583331 |
424 | D>G | No |
ClinGen TOPMed |
|
|
CA403110629 rs1167041375 |
424 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA403110637 rs1167041375 |
424 | D>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 426 | S>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403111411 rs1352325200 |
428 | L>V | No |
ClinGen gnomAD |
|
|
CA9139746 rs748495615 |
430 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9139748 rs568194904 |
432 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1245401993 CA403111511 |
432 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9139747 rs568194904 |
432 | P>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9139749 rs763561590 |
433 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9139754 rs752456382 |
435 | D>N | No |
ClinGen ExAC gnomAD |
|
|
COSM569015 CA9139755 COSM1649551 rs760544239 |
437 | D>N | lung Variant assessed as Somatic; 0.0001853 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA403111734 COSM1397569 COSM1397570 rs111999972 |
442 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs111999972 CA304866487 |
442 | R>S | No |
ClinGen Ensembl |
|
|
CA403111765 rs1197085007 |
443 | G>D | No |
ClinGen gnomAD |
|
|
CA304866489 rs779962662 |
444 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9139759 rs779962662 |
444 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304866506 rs370908683 |
445 | I>L | No |
ClinGen ESP TOPMed |
|
|
rs1251079199 CA403111819 |
446 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9139762 rs752915572 |
447 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9139763 rs553624764 |
452 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs376965424 CA9139771 |
456 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9139770 rs373883256 |
456 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1223584441 CA403112023 |
457 | S>P | No |
ClinGen TOPMed |
|
|
rs1430915125 CA403112088 |
458 | L>P | No |
ClinGen gnomAD |
|
|
CA9139775 rs763749160 |
459 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 461 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9139777 rs761591000 |
462 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304866630 rs1016628214 |
463 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs370626406 CA9139779 |
463 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs1016628214 CA403112166 |
463 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1266155380 CA403112368 |
465 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA403112432 rs1488216480 |
467 | Q>E | No |
ClinGen gnomAD |
|
|
rs1302513719 CA403112439 |
467 | Q>H | No |
ClinGen TOPMed |
|
|
rs1208089387 CA403112436 |
467 | Q>R | No |
ClinGen gnomAD |
|
|
rs1263781626 CA403112441 |
468 | E>K | No |
ClinGen gnomAD |
|
|
rs757610420 CA9139804 |
469 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304866708 rs913408477 |
470 | R>H | No |
ClinGen gnomAD |
|
|
CA403112530 rs1367478926 |
471 | E>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9139806 rs746329891 |
471 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759005895 CA9139807 |
473 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA403112665 rs1436451787 |
476 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs946189975 CA304866728 |
477 | C>R | No |
ClinGen Ensembl |
|
|
rs1253403240 CA403112829 |
478 | E>V | No |
ClinGen TOPMed |
|
|
CA9139809 rs746534091 |
482 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs780862773 CA9139811 |
483 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA9139810 rs768111979 |
483 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA403113235 rs1242705662 |
485 | E>G | No |
ClinGen gnomAD |
|
|
CA9139815 rs762809444 |
488 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs770866534 CA9139816 |
489 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs774330893 CA9139817 |
492 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA9139819 rs764120493 |
494 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403113581 rs764120493 |
494 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1055816694 CA304866792 |
495 | P>A | No |
ClinGen TOPMed |
|
|
rs1055816694 CA403113619 |
495 | P>T | No |
ClinGen TOPMed |
|
|
CA304866793 rs945919776 |
496 | Y>C | No |
ClinGen TOPMed |
|
|
rs1599278549 CA403113762 |
498 | G>C | No |
ClinGen Ensembl |
|
|
rs1159119005 CA403113812 |
499 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1159119005 CA403113819 |
499 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA9139822 rs765659725 |
503 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1599278605 CA403114051 |
503 | S>R | No |
ClinGen Ensembl |
|
|
CA9139824 rs758919596 |
505 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs372128647 CA403114123 |
506 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9139828 rs780586050 |
508 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA403114260 rs1236664270 |
509 | K>N | No |
ClinGen gnomAD |
|
|
CA304866830 rs1016670913 |
513 | A>S | No |
ClinGen Ensembl |
|
|
rs769437401 CA9139830 |
516 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1349179050 CA403114412 |
516 | M>R | No |
ClinGen gnomAD |
|
|
rs777484615 CA9139832 |
517 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA9139833 rs370094298 |
517 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1306308836 CA403114695 |
522 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs763286598 CA9139859 |
524 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1267280770 CA403114724 |
524 | L>V | No |
ClinGen TOPMed |
|
|
rs377397889 CA403114761 CA9139860 |
525 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774581091 CA9139861 |
526 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs767895320 CA9139863 |
531 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs753311777 CA9139865 |
532 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403114990 rs1290428543 |
536 | G>S | No |
ClinGen TOPMed |
|
|
CA403115021 rs1242279082 |
537 | T>A | No |
ClinGen gnomAD |
|
|
CA9139868 rs756934322 |
538 | I>F | No |
ClinGen ExAC |
|
|
CA403115040 rs1220111393 |
538 | I>S | No |
ClinGen gnomAD |
|
|
rs1246639539 CA10590127 |
539 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1487786926 CA403115062 |
540 | A>S | No |
ClinGen gnomAD |
|
|
COSM1590430 COSM1003274 CA9139871 rs374297942 |
541 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9139872 rs374297942 |
541 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1166984913 CA403115124 |
543 | G>R | No |
ClinGen gnomAD |
|
|
CA403115199 rs1416173690 |
545 | Q>* | No |
ClinGen gnomAD |
|
|
CA403118754 rs541798943 |
546 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA304872861 rs998963029 |
546 | D>N | No |
ClinGen TOPMed |
|
|
CA304872884 rs1050752297 |
550 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs184906487 CA304872894 |
551 | F>L | No |
ClinGen 1000Genomes |
|
|
rs1285663157 CA403118951 |
552 | V>L | No |
ClinGen TOPMed |
|
| TCGA novel | 556 | C>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM76002 rs868194151 CA304872915 COSM1680573 |
562 | R>H | ovary Variant assessed as Somatic; impact. haematopoietic_and_lymphoid_tissue [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs527328776 CA403119377 |
565 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs527328776 CA9139900 |
565 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1473620669 CA403119444 |
567 | A>E | No |
ClinGen gnomAD |
|
|
rs772275437 CA9139901 |
568 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA403119513 rs761103593 |
569 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403119555 rs1174150999 |
570 | V>A | No |
ClinGen gnomAD |
|
|
CA9139904 rs769165609 |
571 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA304872981 rs200855333 |
575 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9139906 rs200855333 |
575 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1590428 COSM1003276 rs1436415879 CA403119693 |
575 | A>V | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1409913498 CA403119736 |
577 | P>R | No |
ClinGen gnomAD |
|
|
rs1243380763 CA403119933 |
580 | L>R | No |
ClinGen TOPMed |
|
|
rs1184836575 CA403120100 |
585 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1599293489 CA403120113 |
586 | V>G | No |
ClinGen Ensembl |
|
|
CA9139919 rs374011818 |
597 | R>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1200948611 CA403120429 |
597 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA403120508 rs1477584397 |
598 | A>G | No |
ClinGen gnomAD |
|
|
CA9139920 COSM1527508 rs772343586 COSM1527507 |
598 | A>T | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA403120523 rs1170528752 |
599 | Q>E | No |
ClinGen gnomAD |
|
|
CA9139922 CA403120529 rs780340075 |
599 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 609 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9139927 rs772780080 |
611 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1342035267 CA403120908 |
612 | F>L | No |
ClinGen TOPMed |
|
|
CA403120904 rs1342035267 |
612 | F>V | No |
ClinGen TOPMed |
|
|
CA403120984 rs1232802019 |
613 | Y>* | No |
ClinGen TOPMed |
|
|
RCV000513338 CA403120974 rs1282912583 |
613 | Y>C | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA9139946 rs748824120 |
615 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs770604198 CA9139947 |
616 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs548509810 CA304874639 |
617 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA9139948 rs548509810 |
617 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9139950 rs767380580 |
618 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304874670 rs767380580 |
618 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403122090 rs1459374915 |
619 | Q>* | No |
ClinGen gnomAD |
|
|
CA403122115 rs1471397279 |
619 | Q>H | No |
ClinGen TOPMed |
|
|
CA9139951 rs775359901 |
620 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs936226841 CA304874707 |
621 | S>N | No |
ClinGen TOPMed |
|
|
rs760473122 CA9139952 |
621 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA304874739 rs904781006 |
625 | S>N | No |
ClinGen TOPMed |
|
|
rs1360212457 CA403122255 |
626 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA403122315 rs758444901 |
629 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA9139955 rs758444901 |
629 | T>R | No |
ClinGen ExAC gnomAD |
|
|
rs1329768421 CA403122327 |
630 | V>E | No |
ClinGen gnomAD |
|
|
CA9139956 rs766497226 |
630 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA9139957 rs751735684 |
632 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1555748239 CA403122402 |
633 | R>S | No |
ClinGen Ensembl |
|
|
rs755228050 CA9139958 |
633 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs781473840 CA9139959 |
636 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA403122508 rs1254986624 |
638 | V>M | No |
ClinGen gnomAD |
|
|
rs770178856 CA304874786 |
639 | R>C | No |
ClinGen Ensembl |
|
|
CA9139960 rs748529526 |
640 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1599294225 CA403122661 |
643 | F>S | No |
ClinGen Ensembl |
|
|
CA403122677 rs1599294237 |
644 | A>P | No |
ClinGen Ensembl |
|
| TCGA novel | 644 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403122751 TCGA novel rs1316404038 |
647 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen TOPMed |
|
CA9139961 rs756498926 |
648 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1375273299 CA403122936 |
655 | A>G | No |
ClinGen TOPMed |
|
| rs1482457640 | 658 | R>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA304874847 rs948845687 |
658 | R>G | No |
ClinGen Ensembl |
|
|
rs754305235 CA403123171 |
662 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754305235 CA9139981 |
662 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1489744966 COSM1680575 CA403123180 COSM1680574 |
662 | R>H | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated gnomAD |
| TCGA novel | 664 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403123315 rs1568416053 |
667 | Y>* | No |
ClinGen Ensembl |
|
|
CA403123351 rs1217120922 |
669 | V>A | No |
ClinGen gnomAD |
|
|
rs1452914355 CA403123359 |
670 | L>F | No |
ClinGen gnomAD |
|
|
rs1170739229 CA403123387 |
671 | N>S | No |
ClinGen gnomAD |
|
|
rs1168415207 CA403123530 |
678 | I>S | No |
ClinGen gnomAD |
|
| TCGA novel | 679 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771747017 CA9139985 |
680 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA304875042 rs986569956 |
681 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1568416093 CA403123650 |
686 | E>K | No |
ClinGen Ensembl |
|
| TCGA novel | 686 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1297901859 CA403123727 |
690 | E>K | No |
ClinGen gnomAD |
|
|
rs1435806098 CA403123783 |
691 | Y>C | No |
ClinGen TOPMed |
|
| TCGA novel | 691 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1435806098 CA403123785 |
691 | Y>S | No |
ClinGen TOPMed |
|
|
rs1291371715 CA403123819 |
693 | R>C | No |
ClinGen gnomAD |
|
|
rs776290979 CA9139990 |
693 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA403123898 rs1467426728 |
696 | L>I | No |
ClinGen gnomAD |
|
|
rs759611214 CA9139994 |
699 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 699 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403124133 rs1568416380 |
700 | V>G | No |
ClinGen Ensembl |
|
|
rs867338790 CA304875515 |
704 | T>P | No |
ClinGen gnomAD |
|
|
rs1252365178 CA403124221 |
705 | R>W | No |
ClinGen TOPMed |
|
|
CA403124241 rs1555748498 |
706 | Q>* | No |
ClinGen Ensembl |
|
|
CA403124235 rs1555748498 |
706 | Q>E | No |
ClinGen Ensembl |
|
|
rs933207932 CA304875528 |
708 | R>G | No |
ClinGen gnomAD |
|
|
CA403124294 rs1413707018 |
708 | R>L | No |
ClinGen gnomAD |
|
|
CA304875530 rs931291219 |
709 | A>P | No |
ClinGen gnomAD |
|
|
CA403124296 rs931291219 |
709 | A>T | No |
ClinGen gnomAD |
|
|
rs1354166294 CA403124311 |
709 | A>V | No |
ClinGen gnomAD |
|
|
rs1599295578 CA403124325 |
710 | T>M | No |
ClinGen Ensembl |
|
|
CA403124345 CA304875531 rs979155811 |
712 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA403124344 rs979155811 |
712 | V>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 714 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1210336076 CA403124392 |
715 | V>M | No |
ClinGen gnomAD |
|
|
CA403124462 rs1350887030 |
719 | E>K | No |
ClinGen TOPMed |
|
|
CA403124571 rs1464006255 |
723 | L>P | No |
ClinGen Ensembl |
|
|
CA403124594 rs1468413394 |
724 | P>L | No |
ClinGen gnomAD |
|
|
rs1555748547 CA403124576 |
724 | P>T | No |
ClinGen Ensembl |
|
|
CA403124681 rs1433689344 |
729 | G>S | No |
ClinGen gnomAD |
|
|
CA403124719 rs1443683193 |
730 | H>P | No |
ClinGen TOPMed |
|
|
CA403124756 rs1555748567 |
732 | K>E | No |
ClinGen Ensembl |
|
|
rs1310589378 CA403124802 |
734 | R>L | No |
ClinGen gnomAD |
|
|
rs1371904538 CA403124822 |
735 | Y>* | No |
ClinGen gnomAD |
|
|
CA403124838 rs1409966964 |
736 | P>R | No |
ClinGen gnomAD |
|
|
rs889723987 CA304875569 |
737 | Q>K | No |
ClinGen Ensembl |
|
|
CA9140033 rs768847027 |
748 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1455056109 CA403125146 |
748 | Q>H | No |
ClinGen TOPMed |
|
|
rs776979012 CA9140034 |
750 | I>L | No |
ClinGen ExAC TOPMed |
|
|
rs776979012 CA403125173 |
750 | I>V | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 751 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1367681979 CA403125288 |
757 | L>Q | No |
ClinGen gnomAD |
|
|
CA403125323 rs1382958368 |
759 | G>A | No |
ClinGen gnomAD |
|
|
CA403125325 rs1382958368 |
759 | G>V | No |
ClinGen gnomAD |
|
|
rs1049760147 CA304875997 |
760 | P>L | No |
ClinGen Ensembl |
|
|
rs773741175 CA9140037 |
761 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1247013636 CA403125374 |
763 | A>P | No |
ClinGen gnomAD |
|
|
rs1325650651 CA403126201 |
764 | G>V | No |
ClinGen gnomAD |
|
|
rs997296775 CA304878139 |
768 | G>S | No |
ClinGen Ensembl |
|
|
rs553676223 CA9140052 |
768 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9140053 rs776852454 |
769 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA403126332 rs1599301612 |
770 | P>L | No |
ClinGen Ensembl |
|
|
rs748337187 CA9140054 |
770 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA9140056 rs773612863 |
771 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA9140057 rs763226316 |
773 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1374962353 CA403126419 |
775 | L>I | No |
ClinGen gnomAD |
|
|
CA403126442 rs1599301650 |
776 | T>P | No |
ClinGen Ensembl |
|
|
rs774666660 CA9140059 |
777 | N>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 779 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000722276 rs1568418734 |
785 | V>missing | No |
ClinVar dbSNP |
|
|
CA403126619 rs1269539317 |
787 | I>M | No |
ClinGen TOPMed |
|
|
rs955786327 CA304878193 |
787 | I>N | No |
ClinGen Ensembl |
|
|
CA9140062 rs752227045 |
787 | I>V | No |
ClinGen ExAC gnomAD |
|
|
RCV001008967 rs757382473 |
790 | V>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 793 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403126690 rs1245124315 |
794 | V>A | No |
ClinGen gnomAD |
|
|
CA9140065 rs145988230 |
797 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403126726 rs1206595559 |
798 | A>S | No |
ClinGen gnomAD |
|
|
rs753592836 CA9140066 |
800 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9140067 rs756988726 |
803 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs138366337 CA9140068 |
804 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1248824646 CA403126849 |
805 | H>P | No |
ClinGen gnomAD |
|
|
CA304878225 rs144206674 |
806 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375584992 CA304878251 |
808 | Q>H | No |
ClinGen ESP TOPMed |
|
|
CA403126932 rs1433008029 |
809 | A>T | No |
ClinGen gnomAD |
|
|
CA403126949 rs985591537 |
810 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA9140071 rs781368732 |
810 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA304878260 rs985591537 |
810 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs575336561 CA9140073 |
811 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9140097 rs772492685 |
813 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA9140099 rs148308965 |
814 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs377445062 CA304878539 |
816 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA gnomAD |
|
CA403127212 rs1402183916 |
818 | S>R | No |
ClinGen gnomAD |
|
|
CA9140102 rs761319242 |
820 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1344229774 CA403127305 |
822 | R>G | No |
ClinGen gnomAD |
|
|
rs764917659 CA9140103 |
822 | R>P | No |
ClinGen ExAC gnomAD |
|
|
COSM1003279 rs764917659 COSM1590426 CA9140104 |
822 | R>Q | endometrium Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1568419112 CA403127322 |
823 | A>S | No |
ClinGen Ensembl |
|
|
rs766293333 CA9140106 |
824 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs754999850 CA9140108 |
827 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA9140112 rs779192117 |
831 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA403128479 rs1444957743 |
833 | I>V | No |
ClinGen gnomAD |
|
|
rs1041973883 CA304878867 |
834 | Q>* | No |
ClinGen TOPMed |
|
| TCGA novel | 834 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9140137 rs781718481 |
841 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA304878876 rs1001173506 |
845 | Q>E | No |
ClinGen TOPMed |
|
|
CA403128619 rs1293281721 |
845 | Q>R | No |
ClinGen TOPMed |
|
|
rs1272130769 CA403128653 |
848 | A>V | No |
ClinGen gnomAD |
|
|
CA403128664 rs1599303230 |
849 | H>P | No |
ClinGen Ensembl |
|
|
CA304878882 rs368814522 |
850 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9140139 rs368814522 |
850 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774188638 CA9140143 |
855 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA403128736 rs1169014768 |
856 | T>K | No |
ClinGen gnomAD |
|
|
rs150911550 CA403128756 |
858 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150911550 CA9140146 |
858 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403128770 rs1440481369 |
859 | S>W | No |
ClinGen gnomAD |
|
|
rs1599303349 CA403128782 |
861 | T>P | No |
ClinGen Ensembl |
|
|
rs1228158488 CA403128796 |
862 | P>L | No |
ClinGen gnomAD |
|
|
rs1181806975 CA403128799 |
863 | W>R | No |
ClinGen TOPMed |
|
|
rs763065828 CA9140150 |
864 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA9140151 rs144375033 CA9140152 |
865 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403128830 rs144375033 |
865 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9140153 rs755352257 |
866 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA403128857 rs1200832599 |
868 | L>M | No |
ClinGen TOPMed |
|
|
rs781417400 COSM459823 CA9140154 |
869 | R>* | cervix Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1263335402 CA403128870 |
869 | R>Q | No |
ClinGen gnomAD |
|
|
rs778476313 CA403128939 |
875 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs778476313 CA9140157 |
875 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs888797133 CA304878966 |
876 | I>T | No |
ClinGen TOPMed |
|
| TCGA novel | 878 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9140162 rs745522251 |
881 | D>H | No |
ClinGen ExAC gnomAD |
|
| rs780746994 | 881 | D>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771832387 CA9140163 |
881 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA403129059 rs768558145 |
883 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA304878992 rs200514263 |
886 | L>F | No |
ClinGen 1000Genomes gnomAD |
|
|
rs369420098 CA9140170 |
888 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403129238 rs1278964743 |
891 | Q>* | No |
ClinGen gnomAD |
|
|
rs1309884032 CA403129270 |
892 | M>I | No |
ClinGen gnomAD |
|
|
CA403129296 rs1208680116 |
894 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA9140199 rs1055418995 |
896 | T>M | No |
ClinGen gnomAD |
|
|
CA403129344 rs1055418995 |
896 | T>R | No |
ClinGen gnomAD |
|
|
rs1198393604 CA403129386 |
899 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1236647665 CA403129387 |
899 | R>H | No |
ClinGen gnomAD |
|
|
CA403129476 rs1599304124 |
904 | L>R | No |
ClinGen Ensembl |
|
|
CA9140202 rs749877949 |
905 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs749877949 CA403129480 |
905 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs1194397108 CA403129478 |
905 | V>L | No |
ClinGen gnomAD |
|
|
rs757965741 CA9140203 |
906 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA403129517 rs1464969945 |
907 | L>F | No |
ClinGen gnomAD |
|
|
CA403129529 rs1329008258 |
908 | H>Y | No |
ClinGen gnomAD |
|
|
rs1396289067 CA403129563 |
909 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1441208565 CA403129569 |
910 | E>K | No |
ClinGen gnomAD |
|
|
rs867048951 CA304879144 |
912 | G>S | No |
ClinGen gnomAD |
|
|
CA9140207 rs780967290 |
913 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1256533280 CA403129659 |
914 | G>D | No |
ClinGen gnomAD |
|
|
rs1301640279 CA403129688 |
915 | P>R | No |
ClinGen TOPMed |
|
|
RCV000722436 rs1568419950 |
916 | T>missing | No |
ClinVar dbSNP |
|
|
rs1246290726 CA403129702 |
916 | T>K | No |
ClinGen gnomAD |
|
|
rs1188357416 CA403129705 |
917 | R>S | No |
ClinGen gnomAD |
|
|
CA403129714 rs1350960604 |
918 | T>P | No |
ClinGen TOPMed |
|
|
rs1477442610 CA403129752 |
920 | E>* | No |
ClinGen gnomAD |
|
|
rs1168390078 CA403129757 |
920 | E>V | No |
ClinGen gnomAD |
|
|
rs1555750084 CA403129781 |
921 | W>* | No |
ClinGen Ensembl |
|
|
CA9140213 rs377171140 |
925 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA403129838 rs377171140 |
925 | R>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA403129870 rs1322488690 |
927 | W>* | No |
ClinGen gnomAD |
|
|
CA9140214 rs560373686 |
928 | C>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 928 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403129936 rs1218584397 |
931 | H>N | No |
ClinGen gnomAD |
|
|
rs373118087 CA403129950 |
931 | H>Q | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 935 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9140219 rs751002777 |
935 | R>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 935 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1289519304 CA403130019 |
936 | C>Y | No |
ClinGen gnomAD |
|
|
rs757828621 CA9140220 |
937 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 937 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9140221 rs765924753 |
938 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA403130063 rs1191422754 |
939 | R>C | No |
ClinGen gnomAD |
|
|
rs1191422754 CA403130061 |
939 | R>G | No |
ClinGen gnomAD |
|
|
rs1005074554 CA304879204 |
939 | R>H | No |
ClinGen TOPMed |
|
|
rs1005074554 CA403130070 |
939 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA9140222 rs751142538 |
940 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 940 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1162426854 CA403130128 |
943 | R>C | No |
ClinGen gnomAD |
|
|
CA304879207 rs1016403474 |
944 | R>C | No |
ClinGen gnomAD |
|
|
rs1402059816 CA403130164 |
945 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA403130169 rs1402059816 |
945 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA403130190 rs1359377496 |
947 | A>T | No |
ClinGen gnomAD |
|
|
rs777628706 CA9140246 |
950 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1568420253 CA403130333 |
952 | L>V | No |
ClinGen Ensembl |
|
|
rs1408191872 CA403130346 |
953 | Y>H | No |
ClinGen TOPMed |
|
|
rs369267842 CA9140247 |
954 | E>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA403130395 rs757241994 |
955 | K>N | No |
ClinGen ExAC gnomAD |
|
| rs1399899690 | 955 | K>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403130401 rs1331757268 |
956 | V>F | No |
ClinGen gnomAD |
|
|
rs1232610627 CA403130463 |
959 | R>S | No |
ClinGen gnomAD |
|
|
CA403130489 rs1341352356 |
961 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs768923785 CA9140251 |
961 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA304879317 rs10411650 |
962 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM3960697 CA403130529 rs1215182242 COSM3960696 |
963 | R>L | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA403130527 rs1215182242 |
963 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA403130541 rs1267543117 |
964 | H>P | No |
ClinGen gnomAD |
|
|
rs748411230 CA9140253 |
966 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1196128123 CA403130631 |
968 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs866606458 CA304879324 |
971 | A>E | No |
ClinGen Ensembl |
|
|
rs1599305157 CA403130699 |
972 | R>G | No |
ClinGen Ensembl |
|
|
CA403130716 rs1464327433 |
972 | R>M | No |
ClinGen gnomAD |
|
|
CA403130723 rs1328185840 |
972 | R>S | No |
ClinGen gnomAD |
|
|
rs1555750237 CA403130757 |
975 | T>A | No |
ClinGen Ensembl |
|
|
rs773654449 CA9140256 |
975 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA403130786 rs1321648904 |
976 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA403130796 rs1400572411 |
977 | N>D | No |
ClinGen gnomAD |
|
|
rs771439990 CA9140259 |
979 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403130869 rs1265732248 |
980 | A>V | No |
ClinGen gnomAD |
|
|
rs1355169288 CA403130877 |
981 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1207601722 CA403130881 |
981 | L>P | No |
ClinGen gnomAD |
|
|
rs759036949 CA9140261 |
982 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1195035937 CA403130924 |
983 | L>P | No |
ClinGen gnomAD |
|
|
rs760408832 CA9140264 |
988 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1420322286 CA403131031 |
989 | R>G | No |
ClinGen gnomAD |
|
|
rs1375956434 CA403131039 |
989 | R>M | No |
ClinGen Ensembl |
|
|
rs201902695 CA403131139 |
990 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765137215 CA9140285 |
992 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA9140287 rs758437738 |
994 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA403131298 rs1599306085 |
996 | V>G | No |
ClinGen Ensembl |
|
|
rs1400699469 CA403131288 |
996 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs756218650 CA9140290 |
997 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1442031678 CA403131335 |
998 | K>R | No |
ClinGen TOPMed |
|
|
CA304879538 rs969110433 |
999 | A>G | No |
ClinGen TOPMed |
|
|
rs1369120103 CA403131363 |
999 | A>S | No |
ClinGen gnomAD |
|
|
rs1369120103 CA403131354 |
999 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1272312405 CA403131434 |
1002 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 1003 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA304879540 rs899386761 |
1004 | G>R | No |
ClinGen Ensembl |
|
|
CA9140293 rs749490301 |
1005 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs991228411 CA304879542 |
1005 | V>G | No |
ClinGen Ensembl |
|
|
rs749490301 CA403131514 |
1005 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA403131617 rs1299140404 |
1009 | L>M | No |
ClinGen TOPMed |
|
|
CA403131662 rs1198252065 |
1010 | V>A | No |
ClinGen gnomAD |
|
|
CA9140297 rs772547801 |
1012 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403131686 rs772547801 |
1012 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304879554 rs772547801 |
1012 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403131705 rs1599306216 |
1013 | T>M | No |
ClinGen Ensembl |
|
|
CA403131721 rs1335354975 |
1015 | I>V | No |
ClinGen TOPMed |
|
|
rs1307911328 CA403131786 |
1017 | S>C | No |
ClinGen TOPMed |
|
|
CA403131816 rs1424438972 |
1018 | F>L | No |
ClinGen gnomAD |
|
|
CA403131874 rs1568420862 RCV000722266 |
1022 | L>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1161727779 CA884239165 |
1023 | Y>* | No |
ClinGen TOPMed |
|
|
COSM1590423 CA9140302 rs761558516 COSM1003283 |
1024 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs373605557 CA9140305 |
1029 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA403132015 rs1292411402 |
1030 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1425281497 CA403132018 |
1030 | S>N | No |
ClinGen TOPMed |
|
|
rs560309764 CA9140306 |
1031 | R>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA403132048 rs1403672280 |
1032 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
rs17854647 VAR_032950 CA304879560 |
1033 | K>R | No |
ClinGen UniProt Ensembl dbSNP |
|
|
COSM3773220 COSM3773219 CA9140307 rs751513186 |
1035 | R>Q | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 1036 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1218391370 CA403132122 |
1036 | A>V | No |
ClinGen gnomAD |
|
|
rs760753514 CA9140308 |
1037 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA403132159 rs1222525215 |
1039 | W>G | No |
ClinGen gnomAD |
|
|
rs1222525215 CA403132156 |
1039 | W>R | No |
ClinGen gnomAD |
|
|
CA403132191 rs1383464234 |
1040 | A>T | No |
ClinGen gnomAD |
|
|
rs745725479 CA9140342 |
1044 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA403132975 rs1458797839 |
1048 | E>K | No |
ClinGen gnomAD |
|
|
rs1599307799 CA403133022 |
1052 | D>A | No |
ClinGen Ensembl |
|
|
rs773356401 CA9140347 |
1053 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1379163374 CA403133044 |
1054 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1157401896 CA403133054 |
1055 | Y>C | No |
ClinGen gnomAD |
|
|
CA9140349 rs370629038 |
1056 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1599307849 CA403133080 |
1058 | T>P | No |
ClinGen Ensembl |
|
|
rs755407437 CA9140351 |
1061 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1402147082 CA403133139 |
1063 | G>E | No |
ClinGen TOPMed |
|
| TCGA novel | 1065 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403133168 rs1555750648 |
1066 | F>L | No |
ClinGen Ensembl |
|
|
rs768127106 CA9140352 |
1067 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA304879956 rs576986571 |
1068 | R>C | No |
ClinGen 1000Genomes TOPMed |
|
|
CA304879958 rs546006619 |
1068 | R>H | No |
ClinGen 1000Genomes gnomAD |
|
|
CA9140354 rs755621546 |
1071 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1376269845 CA403133220 |
1071 | H>R | No |
ClinGen gnomAD |
|
|
CA9140357 rs368449963 |
1072 | R>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9140356 rs368449963 |
1072 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
rs1218475493 CA403133230 |
1073 | V>I | No |
ClinGen gnomAD |
|
|
rs1458874254 CA403133285 |
1077 | K>N | No |
ClinGen gnomAD |
|
|
CA403133298 rs1198901019 |
1079 | I>T | No |
ClinGen gnomAD |
|
|
rs1599308250 CA403133346 |
1081 | D>A | No |
ClinGen Ensembl |
|
|
CA9140381 rs781147218 |
1081 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1165177141 CA403133365 |
1083 | W>* | No |
ClinGen gnomAD |
|
| TCGA novel | 1083 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9140382 rs749321933 |
1085 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA403133388 rs1282132705 |
1085 | P>R | No |
ClinGen Ensembl |
|
|
CA9140383 rs749321933 |
1085 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs761166024 CA9140388 |
1095 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA403133517 rs1207724350 |
1097 | A>V | No |
ClinGen TOPMed |
|
|
rs562113164 CA304880046 RCV001267930 |
1099 | R>* | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA9140390 rs754429587 |
1100 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1158367166 CA403133659 |
1104 | G>D | No |
ClinGen gnomAD |
|
|
CA403133695 rs1405021041 |
1108 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs777615874 RCV000415269 CA9140423 |
1111 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA9140425 rs758612152 |
1113 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA403133762 rs1323195200 |
1114 | M>I | No |
ClinGen gnomAD |
|
|
CA403133753 rs1176866323 |
1114 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 1116 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9140427 rs747237146 |
1118 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs769099356 CA9140428 |
1121 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1176651377 CA403133838 |
1122 | P>S | No |
ClinGen gnomAD |
|
|
rs1400535292 CA403133855 |
1124 | C>Y | No |
ClinGen gnomAD |
|
|
CA9140432 rs372763461 RCV001092941 |
1125 | D>N | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1389043015 CA403133882 |
1126 | P>L | No |
ClinGen gnomAD |
|
|
CA403133913 rs1555751016 |
1129 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1174781431 CA403133957 |
1133 | M>I | No |
ClinGen gnomAD |
|
|
CA9140437 rs759210636 |
1133 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs1204028385 CA403133985 |
1136 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 1137 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1249722955 CA403134027 |
1139 | N>S | No |
ClinGen gnomAD |
|
|
CA403134035 rs1489466760 |
1140 | N>D | No |
ClinGen gnomAD |
|
|
CA9140439 rs752506285 |
1140 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA403134474 rs1240608308 |
1145 | I>L | No |
ClinGen TOPMed |
|
|
rs587777854 CA403134497 |
1147 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9140485 rs777358859 |
1147 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA304882411 rs374637667 |
1148 | S>N | No |
ClinGen Ensembl |
|
|
CA403134527 rs1280504581 |
1149 | M>I | No |
ClinGen gnomAD |
|
|
CA9140486 rs767497839 |
1149 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA403134624 rs1231771618 |
1159 | V>M | No |
ClinGen gnomAD |
|
|
rs1427717043 CA403134646 |
1161 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 1162 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403134673 rs1333307739 |
1163 | D>G | No |
ClinGen TOPMed |
|
|
rs746368287 CA9140493 |
1163 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1404148214 CA403134698 |
1165 | T>M | No |
ClinGen gnomAD |
|
|
rs779449446 CA9140495 |
1168 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA403134743 rs1599313226 |
1169 | T>I | No |
ClinGen Ensembl |
|
|
CA9140496 rs746575756 |
1170 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403134746 rs1568423647 |
1170 | Y>H | No |
ClinGen Ensembl |
|
|
COSM1397582 rs776490050 CA9140498 CA403134757 COSM1397583 |
1171 | G>R | Variant assessed as Somatic; 9.261e-05 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 1172 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403134789 rs1157636398 |
1173 | S>R | No |
ClinGen TOPMed |
|
|
rs142422525 CA403134813 |
1176 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403134844 rs1555751600 |
1178 | W>C | No |
ClinGen Ensembl |
|
|
CA403134866 rs1599313357 |
1181 | W>G | No |
ClinGen Ensembl |
|
|
rs766389806 CA403134890 |
1183 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1599313396 CA403134905 |
1184 | L>R | No |
ClinGen Ensembl |
|
|
CA403134942 rs150230845 |
1187 | W>* | No |
ClinGen ESP gnomAD |
|
|
CA304882441 rs150230845 |
1187 | W>C | No |
ClinGen ESP gnomAD |
|
|
CA9140504 rs376279726 CA403134931 |
1187 | W>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1599313430 CA403134958 |
1188 | A>G | No |
ClinGen Ensembl |
|
|
CA9140505 rs201300867 |
1189 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA403135016 rs1599313455 |
1191 | V>G | No |
ClinGen Ensembl |
|
|
CA403135060 rs1281068107 |
1194 | P>S | No |
ClinGen TOPMed |
|
|
CA9140509 rs750897003 |
1199 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA403135220 rs1395876279 |
1202 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs896976341 CA304882450 |
1205 | Y>C | No |
ClinGen TOPMed |
|
| TCGA novel | 1206 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403135328 rs1568423795 |
1208 | C>* | No |
ClinGen Ensembl |
|
|
CA304882462 rs374471865 |
1210 | R>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA304882468 rs112133109 |
1211 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1211 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1336963402 CA403135444 |
1213 | E>D | No |
ClinGen gnomAD |
|
|
rs113241231 CA304882472 |
1214 | V>A | No |
ClinGen Ensembl |
|
|
rs113241231 CA403135460 |
1214 | V>G | No |
ClinGen Ensembl |
|
|
CA403135540 rs1490661867 |
1218 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA304882475 rs1005964763 |
1219 | S>C | No |
ClinGen Ensembl |
|
|
rs1017709942 CA304882477 |
1220 | Y>S | No |
ClinGen Ensembl |
|
|
CA9140519 rs770771137 |
1221 | C>F | No |
ClinGen ExAC |
|
|
CA403135622 rs1382619489 |
1221 | C>R | No |
ClinGen TOPMed |
|
|
rs138454923 CA403135648 |
1222 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1599313717 CA403135662 |
1223 | Y>D | No |
ClinGen Ensembl |
|
|
rs776795925 CA9140525 |
1226 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs769599840 CA9140523 |
1226 | P>S | No |
ClinGen ExAC |
|
|
rs750719951 CA9140528 |
1227 | P>A | No |
ClinGen ExAC |
|
|
CA9140532 rs113195435 |
1230 | C>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs113195435 CA9140531 |
1230 | C>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs745824417 CA304882495 |
1234 | M>T | No |
ClinGen TOPMed |
|
|
CA403135892 rs1599313796 |
1234 | M>V | No |
ClinGen Ensembl |
|
|
rs1555751691 CA403135981 |
1238 | K>R | No |
ClinGen Ensembl |
|
|
CA403136110 rs777550870 |
1243 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777550870 CA9140536 |
1243 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403136099 rs1568423984 |
1243 | Y>H | No |
ClinGen Ensembl |
|
|
rs778792847 CA9140556 |
1244 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA9140557 rs745714280 |
1245 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1419635322 CA403137362 |
1247 | Y>* | No |
ClinGen gnomAD |
|
|
rs769927461 CA9140561 |
1250 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403137433 rs1404861167 |
1251 | K>R | No |
ClinGen gnomAD |
|
|
CA9140563 rs763266245 |
1252 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760045636 CA9140566 |
1253 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774833130 CA9140565 |
1253 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA403137495 rs1198027439 |
1255 | G>R | No |
ClinGen TOPMed |
|
|
CA9140568 rs562876825 |
1259 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9140572 rs756916213 |
1268 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA403137769 rs1599316556 |
1269 | D>A | No |
ClinGen Ensembl |
|
|
rs370218891 CA9140574 |
1270 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs779906170 CA9140576 |
1271 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA403137806 rs1599316620 |
1272 | S>A | No |
ClinGen Ensembl |
|
|
rs1599316632 CA403137853 |
1274 | D>A | No |
ClinGen Ensembl |
|
|
CA403137893 rs1369226297 |
1276 | N>S | No |
ClinGen gnomAD |
|
|
rs1599316651 CA403137936 |
1278 | S>T | No |
ClinGen Ensembl |
|
|
CA304882920 rs141192340 |
1280 | R>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA9140580 rs150754330 |
1280 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs916917326 CA304882922 |
1281 | A>V | No |
ClinGen gnomAD |
|
|
CA403138194 rs1164847477 |
1283 | V>L | No |
ClinGen gnomAD |
|
|
CA304883011 rs139102273 |
1285 | A>P | No |
ClinGen ESP |
|
|
CA304883009 rs139102273 |
1285 | A>T | No |
ClinGen ESP |
|
|
CA403138252 rs1490240529 |
1286 | F>I | No |
ClinGen TOPMed |
|
|
CA9140611 rs747377799 |
1287 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747377799 CA403138284 |
1287 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9140612 rs769204878 |
1288 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA403138346 rs1346115103 |
1290 | G>S | No |
ClinGen gnomAD |
|
|
CA304883014 rs78328733 |
1292 | T>S | No |
ClinGen Ensembl |
|
|
rs1057518107 RCV000413299 |
1294 | L>missing | No |
ClinVar dbSNP |
|
|
rs1318719241 CA403138471 |
1296 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs777058420 CA9140614 |
1298 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1314357511 CA403138534 |
1299 | S>F | No |
ClinGen gnomAD |
|
|
CA9140617 rs772809227 |
1302 | E>D | No |
ClinGen ExAC TOPMed |
|
|
rs1277956441 CA403138608 |
1303 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA403138599 rs1316060830 |
1303 | P>S | No |
ClinGen gnomAD |
|
|
rs894257083 CA304883023 |
1304 | P>S | No |
ClinGen Ensembl |
|
|
rs754195561 RCV001092942 |
1305 | T>missing | No |
ClinVar dbSNP |
|
|
CA403138638 rs758549829 |
1305 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9140623 rs767432114 |
1306 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA403138769 rs1350448949 |
1311 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs149871062 CA403138844 |
1314 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403138850 rs1179395840 |
1315 | G>R | Variant assessed as Somatic; 5.131e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 1316 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9140645 rs764170217 |
1316 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs141102875 CA304883065 |
1316 | E>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA gnomAD |
| TCGA novel | 1316 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1490612925 CA403138965 |
1317 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 1320 | C>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1376097194 CA403139047 |
1320 | C>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 1323 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9140647 rs758612343 |
1326 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369490282 CA403139261 CA9140649 |
1327 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403139279 rs1418840264 |
1328 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA403139336 rs1366024462 |
1330 | P>L | No |
ClinGen gnomAD |
|
|
rs144558473 CA9140653 |
1331 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA403139347 rs144558473 |
1331 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9140654 rs147822708 |
1333 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1599318072 CA403139548 |
1339 | S>P | No |
ClinGen Ensembl |
|
|
rs1360662712 CA403139554 |
1339 | S>Y | No |
ClinGen gnomAD |
|
|
rs1247505739 CA403139599 |
1341 | E>D | No |
ClinGen gnomAD |
|
|
CA9140659 rs371906206 |
1341 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9140660 rs771807857 |
1341 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA9140662 rs143280550 |
1343 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403139636 rs1457301684 |
1344 | S>N | No |
ClinGen gnomAD |
|
|
CA304883086 rs746192300 |
1346 | S>I | No |
ClinGen Ensembl |
|
|
rs763056445 CA9140665 |
1347 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9140666 rs766397068 |
1348 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1454093755 CA403139713 |
1349 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs12974798 CA304883146 |
1352 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1301649286 CA403139808 |
1353 | E>K | No |
ClinGen gnomAD |
|
|
CA304883151 rs977865061 |
1356 | S>L | No |
ClinGen gnomAD |
|
|
CA9140691 rs754251416 |
1356 | S>P | No |
ClinGen ExAC gnomAD |
|
|
COSM1590418 COSM1003288 CA403139874 rs1225642722 |
1358 | L>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs368661376 CA9140694 |
1359 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9140695 rs370033046 |
1361 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9140696 rs779790168 |
1361 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1204274988 CA403139928 |
1362 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA403139926 rs1204274988 VAR_071100 |
1362 | R>G | found in a patient with Gordon-Holmes syndrome; unknown pathological significance [UniProt] | No |
ClinGen UniProt dbSNP gnomAD |
|
rs1199783436 CA403139963 |
1365 | P>S | No |
ClinGen gnomAD |
|
|
CA403139983 rs1431001621 |
1367 | E>K | No |
ClinGen gnomAD |
|
|
rs1171943418 CA403139998 |
1368 | P>S | No |
ClinGen gnomAD |
|
|
rs1171943418 CA403140000 |
1368 | P>T | No |
ClinGen gnomAD |
|
|
rs767615252 CA9140706 |
1371 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1407111266 CA403140070 |
1374 | D>N | No |
ClinGen gnomAD |
|
|
rs1294387281 CA403140100 |
1375 | A>G | No |
ClinGen gnomAD |
|
| rs1367193489 | 1376 | A>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
4 associated diseases with Q8IY17
[MIM: 612020]: Spastic paraplegia 39, autosomal recessive (SPG39)
A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG39 is associated with a motor axonopathy affecting upper and lower limbs and resulting in progressive wasting of distal upper and lower extremity muscles. {ECO:0000269|PubMed:18313024, ECO:0000269|PubMed:24355708}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 215470]: Boucher-Neuhauser syndrome (BNHS)
An autosomal recessive disorder characterized by spinocerebellar ataxia, hypogonadotropic hypogonadism, and visual impairment due to chorioretinal dystrophy. The age at onset is variable, but most patients develop 1 or more symptoms in the first decade of life. Chorioretinal dystrophy may not always be present. {ECO:0000269|PubMed:24355708, ECO:0000269|PubMed:25033069}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 245800]: Laurence-Moon syndrome (LNMS)
An autosomal recessive syndrome characterized by progressive spinocerebellar degeneration, spastic paraplegia, intellectual disability, hypogonadism, dwarfism, and chorioretinopathy. Trichomegaly is absent. {ECO:0000269|PubMed:25480986}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 275400]: Oliver-McFarlane syndrome (OMCS)
A rare autosomal recessive, congenital syndrome characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies. It results in intellectual impairment and dwarfism, if untreated. Clinical features include hypogonadotropic hypogonadism during puberty, pigmentary retinal degeneration, ataxia, spastic paraplegia, and peripheral neuropathy. {ECO:0000269|PubMed:25480986}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG39 is associated with a motor axonopathy affecting upper and lower limbs and resulting in progressive wasting of distal upper and lower extremity muscles. {ECO:0000269|PubMed:18313024, ECO:0000269|PubMed:24355708}. Note=The disease is caused by variants affecting the gene represented in this entry.
- An autosomal recessive disorder characterized by spinocerebellar ataxia, hypogonadotropic hypogonadism, and visual impairment due to chorioretinal dystrophy. The age at onset is variable, but most patients develop 1 or more symptoms in the first decade of life. Chorioretinal dystrophy may not always be present. {ECO:0000269|PubMed:24355708, ECO:0000269|PubMed:25033069}. Note=The disease is caused by variants affecting the gene represented in this entry.
- An autosomal recessive syndrome characterized by progressive spinocerebellar degeneration, spastic paraplegia, intellectual disability, hypogonadism, dwarfism, and chorioretinopathy. Trichomegaly is absent. {ECO:0000269|PubMed:25480986}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A rare autosomal recessive, congenital syndrome characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies. It results in intellectual impairment and dwarfism, if untreated. Clinical features include hypogonadotropic hypogonadism during puberty, pigmentary retinal degeneration, ataxia, spastic paraplegia, and peripheral neuropathy. {ECO:0000269|PubMed:25480986}. Note=The disease is caused by variants affecting the gene represented in this entry.
5 regional properties for Q8IY17
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Cyclic nucleotide-binding domain | 195 - 322 | IPR000595-1 |
| domain | Cyclic nucleotide-binding domain | 511 - 631 | IPR000595-2 |
| domain | Cyclic nucleotide-binding domain | 634 - 750 | IPR000595-3 |
| conserved_site | Lysophospholipase patatin, conserved site | 984 - 1016 | IPR001423 |
| domain | Patatin-like phospholipase domain | 981 - 1147 | IPR002641 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.1.1.5 | Carboxylic ester hydrolases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| endoplasmic reticulum membrane | The lipid bilayer surrounding the endoplasmic reticulum. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| lysophospholipase activity | Catalysis of the reaction: 2-lysophosphatidylcholine + H2O = glycerophosphocholine + a carboxylate. |
| phosphatidyl phospholipase B activity | Catalysis of the reaction: 2 H2O + a phosphatidylcholine = sn-glycero-3-phosphocholine + 2 H+ + 2 a carboxylate. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| glycerophospholipid catabolic process | The chemical reactions and pathways resulting in the breakdown of glycerophospholipids, any derivative of glycerophosphate that contains at least one O-acyl, O-alkyl, or O-alkenyl group attached to the glycerol residue. |
| phosphatidylcholine metabolic process | The chemical reactions and pathways involving phosphatidylcholines, any of a class of glycerophospholipids in which the phosphatidyl group is esterified to the hydroxyl group of choline. They are important constituents of cell membranes. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEAPLQTGMM | GTSSHGLATN | SSGAKVAERD | GFQDVLAPGE | GSAGRICGAQ | PVPFVPQVLG |
| 70 | 80 | 90 | 100 | 110 | 120 |
| VMIGAGVAVV | VTAVLILLVV | RRLRVPKTPA | PDGPRYRFRK | RDKVLFYGRK | IMRKVSQSTS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| SLVDTSVSAT | SRPRMRKKLK | MLNIAKKILR | IQKETPTLQR | KEPPPAVLEA | DLTEGDLANS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| HLPSEVLYML | KNVRVLGHFE | KPLFLELCRH | MVFQRLGQGD | YVFRPGQPDA | SIYVVQDGLL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ELCLPGPDGK | ECVVKEVVPG | DSVNSLLSIL | DVITGHQHPQ | RTVSARAARD | STVLRLPVEA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| FSAVFTKYPE | SLVRVVQIIM | VRLQRVTFLA | LHNYLGLTNE | LFSHEIQPLR | LFPSPGLPTR |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TSPVRGSKRM | VSTSATDEPR | ETPGRPPDPT | GAPLPGPTGD | PVKPTSLETP | SAPLLSRCVS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| MPGDISGLQG | GPRSDFDMAY | ERGRISVSLQ | EEASGGSLAA | PARTPTQEPR | EQPAGACEYS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| YCEDESATGG | CPFGPYQGRQ | TSSIFEAAKQ | ELAKLMRIED | PSLLNSRVLL | HHAKAGTIIA |
| 550 | 560 | 570 | 580 | 590 | 600 |
| RQGDQDVSLH | FVLWGCLHVY | QRMIDKAEDV | CLFVAQPGEL | VGQLAVLTGE | PLIFTLRAQR |
| 610 | 620 | 630 | 640 | 650 | 660 |
| DCTFLRISKS | DFYEIMRAQP | SVVLSAAHTV | AARMSPFVRQ | MDFAIDWTAV | EAGRALYRQG |
| 670 | 680 | 690 | 700 | 710 | 720 |
| DRSDCTYIVL | NGRLRSVIQR | GSGKKELVGE | YGRGDLIGVV | EALTRQPRAT | TVHAVRDTEL |
| 730 | 740 | 750 | 760 | 770 | 780 |
| AKLPEGTLGH | IKRRYPQVVT | RLIHLLSQKI | LGNLQQLQGP | FPAGSGLGVP | PHSELTNPAS |
| 790 | 800 | 810 | 820 | 830 | 840 |
| NLATVAILPV | CAEVPMVAFT | LELQHALQAI | GPTLLLNSDI | IRARLGASAL | DSIQEFRLSG |
| 850 | 860 | 870 | 880 | 890 | 900 |
| WLAQQEDAHR | IVLYQTDASL | TPWTVRCLRQ | ADCILIVGLG | DQEPTLGQLE | QMLENTAVRA |
| 910 | 920 | 930 | 940 | 950 | 960 |
| LKQLVLLHRE | EGAGPTRTVE | WLNMRSWCSG | HLHLRCPRRL | FSRRSPAKLH | ELYEKVFSRR |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| ADRHSDFSRL | ARVLTGNTIA | LVLGGGGARG | CSHIGVLKAL | EEAGVPVDLV | GGTSIGSFIG |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| ALYAEERSAS | RTKQRAREWA | KSMTSVLEPV | LDLTYPVTSM | FTGSAFNRSI | HRVFQDKQIE |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| DLWLPYFNVT | TDITASAMRV | HKDGSLWRYV | RASMTLSGYL | PPLCDPKDGH | LLMDGGYINN |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| LPADIARSMG | AKTVIAIDVG | SQDETDLSTY | GDSLSGWWLL | WKRLNPWADK | VKVPDMAEIQ |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| SRLAYVSCVR | QLEVVKSSSY | CEYLRPPIDC | FKTMDFGKFD | QIYDVGYQYG | KAVFGGWSRG |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| NVIEKMLTDR | RSTDLNESRR | ADVLAFPSSG | FTDLAEIVSR | IEPPTSYVSD | GCADGEESDC |
| 1330 | 1340 | 1350 | 1360 | 1370 | |
| LTEYEEDAGP | DCSRDEGGSP | EGASPSTASE | MEEEKSILRQ | RRCLPQEPPG | SATDA |