O75962
EV
Gene name |
TRIO |
Protein name |
Triple functional domain protein |
Names |
EC 2.7.11.1 , PTPRF-interacting protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:7204 |
EC number |
2.7.11.1: Protein-serine/threonine kinases |
Protein Class |
|
Descriptions
TRIO is a guanine nucleotide exchange factor (GEF) that activates the small GTPase RhoA, influencing cell motility and gene transcription. It plays a crucial role in tumor growth in uveal melanoma. The GEF activity of TRIO’s C-terminal module (TrioC) is autoinhibited. The pleckstrin homology (PH) domain interacts with the Dbl homology (DH) domain, blocking the Rho GTPase binding site and preventing activation. Similar to ARHGEF25, Binding of Gαq also relieves the autoinhibition of TRIO. Furthermore, mutations in the DH-PH interface found in cancer patients can disrupt this autoinhibited state, leading to increased RhoA activation and mitogenic signaling, potentially driving cancer progression.
Autoinhibitory domains (AIDs)
Target domain |
1964-2156 (DH domain) |
Relief mechanism |
Partner binding |
Assay |
Structural analysis, Deletion assay, Mutagenesis experiment |
Accessory elements
2935-2957 (Activation loop from InterPro)
Target domain |
2796-3050 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
3034 variants for O75962
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV002548319 RCV000966936 rs1045136451 |
12 | A>T | Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes dbSNP gnomAD |
|
RCV002532609 RCV000591369 rs905287265 CA114683589 |
14 | S>F | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
RCV001647990 rs1006366530 RCV002539578 |
15 | S>F | Inborn genetic diseases [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001839401 rs1429556466 |
18 | A>G | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs1188365621 RCV001199267 |
27 | G>V | Intellectual developmental disorder, autosomal dominant 63, with macrocephaly [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs1795936426 RCV001266617 |
60 | M>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1735893497 RCV001262381 |
100 | R>missing | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001256092 rs961247277 |
137 | S>F | Intellectual disability [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000408638 COSM1063666 rs1057516029 CA10654751 |
212 | E>* | Variant assessed as Somatic; HIGH impact. endometrium Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1736840999 RCV001253412 RCV001268524 |
217 | R>missing | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs879255624 RCV000239483 CA10586187 |
217 | R>* | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002226932 rs2152284932 |
235 | E>missing | Intellectual developmental disorder, autosomal dominant 63, with macrocephaly [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2152285036 RCV002244306 |
280 | Q>* | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001816389 rs777932649 RCV002542479 RCV003883185 |
323 | Q>R | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2152285212 RCV001801274 RCV003487787 |
338 | Q>R | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1736873932 RCV001253172 |
345 | F>L | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs138722140 RCV000912659 RCV002542125 |
406 | N>S | Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003169930 RCV001374615 rs1398653793 |
440 | R>Q | Intellectual developmental disorder, autosomal dominant 63, with macrocephaly [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs1739400348 RCV001332885 |
526 | A>V | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1739405858 RCV001253649 |
548 | Q>H | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs2152305937 RCV002226961 |
555 | W>C* | Intellectual developmental disorder, autosomal dominant 63, with macrocephaly [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs140745100 RCV002274470 |
621 | Y>* | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs962795710 RCV001260814 |
624 | A>V | Intellectual disability [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001270885 rs1741439198 |
633 | Q>E | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1554057613 CA359193708 RCV000623298 |
644 | E>G | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001332886 rs1741443770 |
652 | L>P | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV003154196 rs1487014323 RCV001797030 |
702 | S>L | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome Developmental delay [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000791053 rs201514384 |
759 | T>M | Variant assessed as Somatic; MODERATE impact. Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [NCI-TCGA, ClinVar] | Yes |
ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1554062562 RCV001260792 RCV000624516 CA359206271 RCV001030437 |
768 | Q>* | Intellectual disability Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_083915 | 768 | Q>del | MRD44 [UniProt] | Yes | UniProt |
|
RCV000623260 rs1554062588 CA359207048 RCV000656255 |
787 | Q>* | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000888792 RCV002540080 rs370634993 |
827 | R>H | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001809173 rs2152340657 |
841 | L>V | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1744368530 RCV002272961 |
847 | H>Q | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs1435239428 RCV001003587 |
854 | Q>* | Microcephaly [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV002211056 rs2152340697 |
857 | N>missing | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002555969 COSM590400 rs199976501 RCV001093478 |
857 | N>S | lung Inborn genetic diseases [Cosmic, ClinVar] | Yes |
cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2152341262 RCV002273222 |
905 | Q>P | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs772072746 VAR_077093 |
924 | R>S | MRD44; uncertain significance [UniProt] | Yes |
UniProt ExAC dbSNP gnomAD |
|
RCV001095733 rs1471812228 |
964 | A>V | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV000623954 CA359216329 rs1554064863 |
1040 | W>* | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001266836 rs1744892960 |
1067 | K>Q | Inborn genetic diseases [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
COSM1288636 RCV001256180 VAR_083916 rs1745368018 |
1075 | T>I | Variant assessed as Somatic; MODERATE impact. autonomic_ganglia Intellectual developmental disorder, autosomal dominant 63, with macrocephaly MRD63; slightly increased occipitofrontal circumference; increased activation of RAC1-mediated signaling; increased lamellipodia formation [NCI-TCGA, Cosmic, ClinVar, UniProt] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs1554065887 COSM78702 RCV001030434 VAR_083919 VAR_083917 |
1078 | R>G | ovary Intellectual developmental disorder, autosomal dominant 63, with macrocephaly MRD63; increased activation of RAC1-mediated signaling; increased neurite outgrowth [Cosmic, ClinVar, UniProt] | Yes |
cosmic curated ClinVar UniProt TOPMed dbSNP |
|
COSM736535 RCV001579360 RCV001030435 VAR_083918 RCV002249637 RCV002552437 RCV003396623 rs1745369142 |
1078 | R>Q | lung TRIO-related condition Variant assessed as Somatic; MODERATE impact. large_intestine Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome Intellectual developmental disorder, autosomal dominant 63, with macrocephaly Inborn genetic diseases MRD63; increased activation of RAC1-mediated signaling; increased neurite outgrowth [Cosmic, ClinVar, NCI-TCGA, UniProt] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs1554065887 VAR_083919 |
1078 | R>W | MRD63; increased activation of RAC1-mediated signaling; increased neurite outgrowth [UniProt] | Yes |
UniProt dbSNP |
|
CA10586191 RCV001030053 RCV000239559 VAR_077094 rs879255628 |
1080 | N>I | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome Intellectual developmental disorder, autosomal dominant 63, with macrocephaly MRD63; slightly increased occipitofrontal circumference; increased activation of RAC1-mediated signaling; increased neurite outgrowth [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs61737134 RCV001258353 |
1082 | D>E | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs1745725808 RCV001266443 RCV002298920 |
1120 | E>G | Inborn genetic diseases [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs950757813 RCV002277752 RCV003147745 |
1187 | I>V | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome Intellectual developmental disorder, autosomal dominant 63, with macrocephaly [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001266533 rs1746645521 |
1213 | H>L | Inborn genetic diseases [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA645541050 RCV000598853 rs1554068529 RCV001706682 |
1220 | C>missing | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
VAR_077095 rs756004023 |
1238 | Y>H | MRD44; uncertain significance [UniProt] | Yes |
UniProt ExAC TOPMed dbSNP gnomAD |
|
rs1384265862 RCV001332887 |
1245 | A>T | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs879255623 RCV000239592 CA10586186 |
1251 | D>missing | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
VAR_083920 rs1746763024 RCV001030436 |
1299 | E>K | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome MRD44; severely decreased activation of RAC1-mediated signaling; severely decreased neurite outgrowth [ClinVar, UniProt] | Yes |
ClinVar UniProt Ensembl dbSNP |
|
RCV001261383 rs1746764895 |
1303 | T>I | Intellectual disability [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001267484 rs1746765254 |
1306 | A>T | Inborn genetic diseases [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001266780 rs56051871 |
1317 | T>R | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002274469 rs2152363791 |
1368 | D>G | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA10586185 rs879255622 RCV000239538 |
1376 | W>* | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001333621 rs1747347943 |
1414 | L>S | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000995907 rs1579522661 |
1426 | V>F | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA10586189 RCV001545744 COSM3209842 RCV000239597 RCV003391011 rs879255626 VAR_077096 |
1428 | R>Q | TRIO-related condition Variant assessed as Somatic; MODERATE impact. Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome MRD44; severely decreased activation of RAC1-mediated signaling; severely decreased neurite outgrowth [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV001266463 rs1747351918 RCV003399038 |
1431 | K>M | TRIO-related condition Inborn genetic diseases [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001334640 rs1747352673 RCV002282522 |
1434 | L>F | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001256181 RCV001260786 VAR_083921 rs1747667518 |
1461 | P>L | Intellectual disability Intellectual developmental disorder, autosomal dominant 63, with macrocephaly MRD63; slightly increased occipitofrontal circumference; slightly increased RAC1-mediated signaling; slightly increased neurite outgrowth [ClinVar, UniProt] | Yes |
ClinVar UniProt Ensembl dbSNP |
|
rs1747667518 RCV002262173 |
1461 | P>R | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs879255627 VAR_077097 RCV000239509 CA10586190 |
1461 | P>T | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome MRD44; no effect on RAC1-mediated signaling; no effect on neurite outgrowth [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs748670822 RCV001260912 RCV001775162 |
1463 | R>* | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome Intellectual developmental disorder, autosomal dominant 63, with macrocephaly [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
RCV001254176 RCV003230654 RCV003147600 rs1747669042 RCV002508954 RCV001823187 |
1465 | N>S | TRIO-Related Disorders Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome Intellectual developmental disorder, autosomal dominant 63, with macrocephaly TRIO-Related Disorder [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA359233767 VAR_083922 RCV001256179 RCV000656302 rs1554070777 |
1469 | H>R | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome MRD44; decreased activation of RAC1-mediated signaling; severely decreased neurite outgrowth [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1338354694 RCV001332888 |
1477 | D>E | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV000239545 rs879255625 CA10586188 |
1489 | Q>missing | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV001814904 rs2152373759 |
1499 | T>missing | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001262797 rs1747843990 |
1512 | F>S | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
CA359234855 RCV000623156 rs1554071179 |
1524 | D>G | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002250843 rs2152380313 |
1584 | K>M | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001779652 RCV002541108 rs775980433 |
1641 | A>T | Variant assessed as Somatic; MODERATE impact. Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2152389359 RCV002227644 |
1660 | L>M | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs749494831 RCV001254985 |
1686 | L>V | Intellectual disability [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs1053063993 RCV001253270 |
1747 | P>S | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV001266681 rs1753758481 |
1759 | G>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
rs766716332 RCV000786914 |
1796 | L>M | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1753778152 RCV001265921 |
1807 | R>C | Inborn genetic diseases [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs760274582 RCV001332890 |
1829 | T>R | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
rs1554083396 CA359231005 RCV000624528 |
1863 | G>R | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1753935398 RCV001332891 |
1879 | S>N | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV002226844 rs2126522675 |
1894 | L>I | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
| VAR_077098 | 1922 | A>T | MRD44; uncertain significance [UniProt] | Yes | UniProt |
| VAR_077099 | 1939 | S>N | MRD44; uncertain significance [UniProt] | Yes | UniProt |
|
rs2126551592 RCV001780049 |
1960 | E>A | Neurodevelopmental disorder [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs780065387 COSM146046 RCV001198351 |
1982 | R>H | Intellectual developmental disorder, autosomal dominant 63, with macrocephaly haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002568955 RCV001544586 rs114451941 |
1997 | A>T | Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001383860 rs752676391 RCV001775172 |
2030 | F>* | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002272390 RCV002252297 RCV001260798 rs752676391 RCV001030438 |
2031 | L>missing | Intellectual disability Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002273323 rs1425641656 |
2125 | T>I | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
rs2126611738 RCV001724747 |
2185 | E>missing | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_077100 rs771342869 |
2201 | L>V | MRD44; uncertain significance [UniProt] | Yes |
UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000513819 RCV003403204 rs1394971633 CA359235980 |
2239 | T>A | TRIO-related condition [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
VAR_077101 rs1258664728 |
2247 | E>D | MRD44; uncertain significance [UniProt] | Yes |
UniProt TOPMed dbSNP gnomAD |
|
COSM4851630 RCV003264056 rs750947029 RCV001541681 |
2259 | R>Q | Variant assessed as Somatic; MODERATE impact. Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV003160056 rs377126633 RCV000593158 CA3207232 |
2274 | R>H | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001332893 rs1756015567 |
2289 | N>S | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV002541571 RCV001726473 rs749785358 RCV001260863 |
2297 | G>missing | Intellectual disability Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002548356 RCV000971211 rs749785358 |
2298 | G>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002544301 rs1460639961 RCV001786830 |
2308 | S>G | Inborn genetic diseases [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs892410126 RCV001566079 RCV002573197 |
2310 | G>V | Inborn genetic diseases [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV002244491 rs1009798604 RCV003395427 |
2311 | G>S | TRIO-related condition [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001839048 rs375274497 RCV001550063 |
2334 | S>T | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [ClinVar] | Yes |
ClinVar ESP TOPMed dbSNP gnomAD |
|
rs754870679 RCV003136183 RCV001825238 |
2350 | P>R | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs746654944 RCV002471262 RCV002244603 |
2351 | V>missing | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001270886 rs746319480 |
2360 | Q>H | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002573324 rs781081298 RCV001583893 |
2379 | P>R | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002244168 rs761969823 |
2386 | G>R | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs868112751 RCV001332895 |
2408 | P>A | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs927883781 RCV002266709 |
2417 | S>N | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs1469803121 RCV002244169 |
2422 | A>T | Variant assessed as Somatic; MODERATE impact. Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1756094324 RCV001332896 |
2434 | A>V | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs1300607085 CA359237271 RCV000622654 |
2445 | P>L | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs759324474 RCV000622313 CA3207375 |
2446 | L>F | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs373471708 RCV002539791 RCV001730218 |
2466 | P>L | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000972413 RCV002503088 rs140308852 |
2486 | W>S | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003433100 rs1400453441 RCV001270887 |
2532 | A>V | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV001815939 RCV003289100 rs750714090 |
2618 | I>N | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001266637 rs1756936101 |
2654 | K>* | Inborn genetic diseases [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001090988 rs748596743 RCV002555944 |
2660 | R>W | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001591369 rs150431198 RCV003302957 CA3207705 RCV000602049 |
2676 | N>S | Intellectual developmental disorder, autosomal dominant 63, with macrocephaly Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002275361 RCV001334642 rs1032913640 COSM1063724 |
2695 | T>M | Variant assessed as Somatic; MODERATE impact. endometrium Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs747166529 RCV001205927 RCV002508951 |
2707 | R>* | Variant assessed as Somatic; HIGH impact. Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [NCI-TCGA, ClinVar] | Yes |
ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001291795 RCV002292624 RCV001291794 VAR_077102 rs768858988 RCV002499518 COSM3728366 |
2707 | R>Q | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome Intellectual developmental disorder, autosomal dominant 63, with macrocephaly haematopoietic_and_lymphoid_tissue MRD44; uncertain significance [ClinVar, Cosmic, UniProt] | Yes |
cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001334643 rs1757054340 |
2746 | I>T | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP |
|
RCV001611521 rs144114662 RCV002538504 |
2787 | T>S | Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs944775553 RCV001256073 |
2795 | F>L | Autism [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
CA359239948 RCV000622914 rs1554092927 |
2815 | Q>E | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1438153964 RCV001332897 |
2883 | R>* | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV002266699 rs1422150009 |
2896 | L>M | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs2126720106 RCV001843733 |
2917 | K>T | Developmental disorder [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV003424318 RCV002535270 RCV000732388 RCV002466576 rs377248579 |
2942 | Q>E | TRIO-related condition Inborn genetic diseases Intellectual disability, autosomal dominant 40 [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000888979 RCV002539383 rs143213427 RCV001818650 |
2944 | N>S | Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001270888 rs574639687 |
2945 | T>M | Variant assessed as Somatic; MODERATE impact. Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [NCI-TCGA, ClinVar] | Yes |
ClinVar 1000Genomes ExAC NCI-TCGA dbSNP gnomAD |
|
rs1321773037 RCV003346658 RCV001733273 |
3038 | R>C | Variant assessed as Somatic; MODERATE impact. Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000922305 rs149252703 RCV002487996 |
3060 | V>I | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1214523593 RCV001266318 |
3086 | K>R | Inborn genetic diseases [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
RCV001638089 rs145985294 RCV002554092 RCV001420638 |
3093 | L>F | Intellectual developmental disorder, autosomal dominant 63, with macrocephaly Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
| rs1466244559 | 3 | G>C | No |
TOPMed gnomAD |
|
| rs934616360 | 3 | G>D | No | TOPMed | |
| rs1466244559 | 3 | G>R | No |
TOPMed gnomAD |
|
| rs1787315957 | 4 | S>R | No | Ensembl | |
| rs1052849519 | 5 | S>G | No |
TOPMed gnomAD |
|
| rs1787316634 | 7 | G>E | No | TOPMed | |
| rs2152110591 | 8 | A>P | No | Ensembl | |
| rs1787316924 | 8 | A>V | No | Ensembl | |
| rs2152110597 | 9 | A>G | No | Ensembl | |
| rs1554020571 | 9 | A>P | No | Ensembl | |
| rs1554020571 | 9 | A>T | No | Ensembl | |
| rs1581221588 | 10 | A>D | No |
TOPMed gnomAD |
|
| rs1581221588 | 10 | A>G | No |
TOPMed gnomAD |
|
| rs1581221588 | 10 | A>V | No |
TOPMed gnomAD |
|
| rs1045136451 | 12 | A>P | No |
1000Genomes gnomAD |
|
| rs1787318362 | 13 | A>S | No | gnomAD | |
| rs1787318467 | 13 | A>V | No | Ensembl | |
| rs1006366530 | 15 | S>C | No |
TOPMed gnomAD |
|
| rs2152110611 | 15 | S>P | No | Ensembl | |
| rs1787319127 | 16 | G>C | No | TOPMed | |
| rs1332937106 | 16 | G>D | No |
TOPMed gnomAD |
|
| rs1787319127 | 16 | G>R | No | TOPMed | |
| rs1332937106 | 16 | G>V | No |
TOPMed gnomAD |
|
| rs1787319675 | 17 | P>H | No | Ensembl | |
| rs1376919961 | 17 | P>S | No |
TOPMed gnomAD |
|
| rs1787319961 | 18 | A>T | No | gnomAD | |
| rs1787320475 | 19 | A>E | No | gnomAD | |
| rs1581221675 | 20 | A>V | No | gnomAD | |
| rs1581221694 | 21 | A>D | No | Ensembl | |
| rs1581221694 | 21 | A>G | No | Ensembl | |
| rs1191523899 | 22 | S>R | No | gnomAD | |
| rs566570633 | 23 | A>S | No |
1000Genomes gnomAD |
|
|
RCV000887398 rs566570633 |
23 | A>T | No |
ClinVar 1000Genomes dbSNP gnomAD |
|
| rs2152110642 | 24 | A>V | No | 1000Genomes | |
|
RCV001589366 rs1179257010 |
26 | S>* | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1179257010 | 26 | S>L | No |
TOPMed gnomAD |
|
| rs2152110643 | 26 | S>P | No | Ensembl | |
| rs1179257010 | 26 | S>W | No |
TOPMed gnomAD |
|
| rs1403994088 | 27 | G>S | No | gnomAD | |
| rs1787322056 | 28 | C>F | No |
TOPMed gnomAD |
|
| rs1425763829 | 28 | C>R | No |
TOPMed gnomAD |
|
| rs1787322056 | 28 | C>S | No |
TOPMed gnomAD |
|
| rs1787322472 | 30 | G>D | No |
TOPMed gnomAD |
|
| rs1321401363 | 32 | A>G | No |
TOPMed gnomAD |
|
| rs1321401363 | 32 | A>V | No |
TOPMed gnomAD |
|
| rs1383665350 | 34 | E>D | No |
TOPMed gnomAD |
|
| rs1293204286 | 36 | A>P | No |
TOPMed gnomAD |
|
| rs1293204286 | 36 | A>T | No |
TOPMed gnomAD |
|
| rs1554020597 | 37 | E>* | No | Ensembl | |
| rs1787323808 | 38 | E>K | No | Ensembl | |
| rs1193248427 | 39 | A>E | No | gnomAD | |
| rs1193248427 | 39 | A>V | No | gnomAD | |
| rs1561129756 | 41 | K>M | No | Ensembl | |
|
RCV002248911 rs1283038205 |
44 | A>V | No |
ClinVar Ensembl dbSNP |
|
| rs1244944340 | 46 | I>M | No | TOPMed | |
| rs1787324834 | 47 | A>S | No |
TOPMed gnomAD |
|
| rs1356939566 | 47 | A>V | No | TOPMed | |
| rs1409584675 | 49 | F>Y | No | Ensembl | |
| rs1787325624 | 51 | R>* | No | Ensembl | |
| rs1287870854 | 53 | G>A | No |
TOPMed gnomAD |
|
| rs1404051215 | 53 | G>R | No | TOPMed | |
| rs1359262571 | 55 | R>G | No | gnomAD | |
|
COSM4926449 rs1383482299 |
55 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs780218609 | 56 | K>E | No |
ExAC TOPMed gnomAD |
|
| rs1318239714 | 56 | K>R | No |
TOPMed gnomAD |
|
| rs548162957 | 57 | N>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1030442513 | 57 | N>S | No |
TOPMed gnomAD |
|
|
rs1030442513 COSM1434831 |
57 | N>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
TOPMed gnomAD NCI-TCGA Cosmic |
| rs781554454 | 58 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs1490598742 | 58 | D>N | No |
TOPMed gnomAD |
|
| rs1795936903 | 60 | M>I | No | Ensembl | |
| rs769633911 | 60 | M>V | No |
ExAC gnomAD |
|
|
RCV001770588 rs2152269636 |
61 | K>Q | No |
ClinVar Ensembl dbSNP |
|
| rs777369125 | 62 | A>D | No |
ExAC gnomAD |
|
| rs1188414460 | 63 | M>L | No |
TOPMed gnomAD |
|
| rs1188414460 | 63 | M>V | No |
TOPMed gnomAD |
|
| rs201815516 | 65 | V>G | No | Ensembl | |
| rs146453151 | 67 | P>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
RCV001762875 rs146644309 |
68 | I>V | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1158098621 | 73 | V>F | No | gnomAD | |
| rs775129821 | 74 | A>G | No |
ExAC gnomAD |
|
| COSM3919223 | 76 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1795938824 | 77 | S>P | No | TOPMed | |
| COSM1434833 | 78 | G>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs768166826 | 83 | R>H | No |
ExAC gnomAD |
|
| rs1735890578 | 89 | T>M | No | gnomAD | |
| rs763216004 | 90 | F>L | No |
ExAC gnomAD |
|
| rs767063550 | 91 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs767063550 | 91 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs1735891610 | 92 | A>S | No | TOPMed | |
| rs1735891783 | 92 | A>V | No | gnomAD | |
| rs767723793 | 93 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs376866089 | 93 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP NCI-TCGA TOPMed gnomAD |
| rs376866089 | 93 | R>P | No |
ESP TOPMed gnomAD |
|
| rs1481458428 | 95 | N>S | No |
TOPMed gnomAD |
|
| rs368206547 | 96 | H>R | No |
ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 97 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 98 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1394171124 | 99 | I>L | No | gnomAD | |
| rs1452167763 | 99 | I>T | No | gnomAD | |
| rs372468155 | 100 | R>P | No |
ESP TOPMed gnomAD |
|
| rs372468155 | 100 | R>Q | No |
ESP TOPMed gnomAD |
|
| rs756398190 | 101 | Q>P | No |
ExAC TOPMed gnomAD |
|
| rs1041016285 | 105 | R>K | No | Ensembl | |
| rs1353129222 | 106 | R>G | No | gnomAD | |
| COSM3611868 | 106 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1390795101 | 106 | R>S | No |
TOPMed gnomAD |
|
| rs1444903893 | 107 | L>V | No | gnomAD | |
| rs753722635 | 108 | I>F | No |
ExAC TOPMed gnomAD |
|
| rs753722635 | 108 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| COSM3611869 | 109 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1581516400 | 110 | Y>F | No | Ensembl | |
| rs758293182 | 111 | L>I | No |
ExAC gnomAD |
|
| rs779580501 | 115 | P>L | No |
ExAC gnomAD |
|
| rs769526836 | 117 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs149046966 | 119 | V>F | No |
ESP TOPMed gnomAD |
|
| rs149046966 | 119 | V>L | No |
ESP TOPMed gnomAD |
|
| rs1190465839 | 122 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs774892381 | 122 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs774892381 | 122 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs774892381 | 122 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs866736903 | 126 | V>M | No | Ensembl | |
| rs1736489332 | 128 | V>M | No | TOPMed | |
| rs1736490010 | 130 | M>T | No | Ensembl | |
| rs1736489681 | 130 | M>V | No | TOPMed | |
|
rs1736490330 COSM181395 |
131 | R>C | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated gnomAD |
| COSM1319248 | 131 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs772763347 | 132 | G>E | No |
ExAC gnomAD |
|
| rs1337870238 | 138 | I>N | No |
TOPMed gnomAD |
|
| rs972632701 | 139 | K>R | No | gnomAD | |
| rs2152281747 | 140 | P>L | No | Ensembl | |
| rs1204128261 | 144 | I>V | No | Ensembl | |
| TCGA novel | 148 | S>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1234973830 | 150 | P>H | No | gnomAD | |
| rs765423904 | 150 | P>S | No |
ExAC gnomAD |
|
| rs1349555789 | 151 | C>F | No | gnomAD | |
| rs750280385 | 151 | C>S | No |
ExAC gnomAD |
|
| rs1436278091 | 153 | I>F | No | TOPMed | |
| rs766133734 | 153 | I>M | No |
ExAC gnomAD |
|
| rs1736496612 | 153 | I>T | No | Ensembl | |
| rs1367695132 | 154 | H>R | No |
TOPMed gnomAD |
|
| TCGA novel | 156 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1217993478 | 157 | L>P | No | gnomAD | |
| rs774550508 | 162 | D>V | No | Ensembl | |
| COSM285964 | 171 | N>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1736499897 RCV001171839 |
174 | S>T | No |
ClinVar Ensembl dbSNP |
|
| rs752219223 | 175 | S>Y | No |
ExAC gnomAD |
|
| rs1581531619 | 176 | K>N | No | Ensembl | |
| COSM6169729 | 178 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs769879501 | 182 | N>I | No |
ExAC TOPMed gnomAD |
|
| rs769879501 | 182 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs769879501 | 182 | N>T | No |
ExAC TOPMed gnomAD |
|
| rs1736834950 | 183 | M>R | No | gnomAD | |
| rs138818919 | 183 | M>V | No | ESP | |
| rs773231295 | 185 | S>A | No |
ExAC gnomAD |
|
| rs1321666936 | 186 | L>S | No | Ensembl | |
|
rs1736835991 RCV001093477 |
187 | E>G | No |
ClinVar Ensembl dbSNP |
|
| rs1011865659 | 190 | T>N | No |
TOPMed gnomAD |
|
| COSM1063664 | 192 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs774060768 | 193 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| COSM1288635 | 194 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1239893693 | 194 | D>G | No |
TOPMed gnomAD |
|
| rs1736837525 | 195 | P>A | No | Ensembl | |
|
rs2152284838 RCV001538337 |
196 | S>A | No |
ClinVar Ensembl dbSNP |
|
| rs2152284838 | 196 | S>P | No | Ensembl | |
| rs1736838148 | 200 | P>L | No | gnomAD | |
| rs1736837942 | 200 | P>S | No | Ensembl | |
| COSM4824502 | 201 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1736838569 | 203 | D>N | No | TOPMed | |
| rs1736838801 | 207 | E>V | No | gnomAD | |
| rs1736839196 | 209 | N>K | No | Ensembl | |
| rs1561298179 | 209 | N>S | No | Ensembl | |
|
rs538529734 COSM1063665 |
211 | E>K | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs1400708238 | 214 | I>L | No | gnomAD | |
| rs1460616662 | 214 | I>M | No | gnomAD | |
| TCGA novel | 214 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM1486455 | 215 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1736841293 | 217 | R>I | No | Ensembl | |
| rs760632116 | 218 | V>A | No |
ExAC gnomAD |
|
| rs556482968 | 219 | A>T | No |
1000Genomes ExAC gnomAD |
|
| rs753369139 | 222 | D>H | No |
ExAC gnomAD |
|
| rs764931748 | 223 | Y>C | No |
ExAC gnomAD |
|
| rs367568938 | 223 | Y>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs370355156 | 224 | I>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs755378395 | 224 | I>S | No |
ExAC TOPMed gnomAD |
|
| rs370355156 | 224 | I>V | No |
ESP ExAC TOPMed gnomAD |
|
|
TCGA novel rs1213307648 |
225 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1213307648 | 225 | S>T | No | gnomAD | |
| rs1271580394 | 226 | N>S | No | gnomAD | |
| rs781482212 | 227 | A>V | No |
ExAC gnomAD |
|
| rs748679640 | 230 | M>V | No | ExAC | |
| rs756570638 | 233 | R>P | No |
ExAC gnomAD |
|
| rs756570638 | 233 | R>Q | No |
ExAC gnomAD |
|
| rs76253382 | 235 | E>G | No |
ExAC gnomAD |
|
| rs76253382 | 235 | E>V | No |
ExAC gnomAD |
|
| rs1424087244 | 236 | E>G | No | gnomAD | |
| rs749363168 | 238 | Q>E | No |
ExAC gnomAD |
|
| rs1162520614 | 238 | Q>P | No | gnomAD | |
| rs771114176 | 239 | D>G | No |
ExAC gnomAD |
|
| rs1287816131 | 243 | K>Q | No | gnomAD | |
| rs1581541548 | 244 | K>Q | No | Ensembl | |
| rs771914128 | 245 | E>Q | No |
ExAC gnomAD |
|
| rs775375272 | 246 | L>V | No |
ExAC gnomAD |
|
| COSM3852338 | 247 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs776340582 | 252 | G>R | No |
ExAC gnomAD |
|
| rs1159361660 | 254 | R>G | No |
TOPMed gnomAD |
|
| rs928651686 | 254 | R>Q | No | Ensembl | |
| TCGA novel | 254 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs761383860 | 255 | N>S | No |
ExAC gnomAD |
|
| rs372338229 | 256 | M>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs764588376 | 256 | M>T | No |
ExAC TOPMed gnomAD |
|
| rs561868959 | 257 | I>M | No |
ExAC TOPMed gnomAD |
|
| rs1263899335 | 257 | I>N | No | gnomAD | |
| rs1736852365 | 258 | E>K | No |
TOPMed gnomAD |
|
| rs767903872 | 258 | E>V | No |
ExAC gnomAD |
|
|
rs1415644561 RCV001310844 |
259 | E>D | No |
ClinVar dbSNP gnomAD |
|
| rs1424053422 | 261 | S>A | No | gnomAD | |
| rs1157847642 | 261 | S>C | No | gnomAD | |
| rs778237655 | 265 | K>M | No |
ExAC TOPMed gnomAD |
|
| rs778237655 | 265 | K>R | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 266 | K>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1736854895 | 267 | V>M | No | Ensembl | |
| rs757362147 | 268 | I>L | No |
ExAC gnomAD |
|
| rs574806772 | 268 | I>M | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs2152285007 RCV002265275 |
269 | K>R | No |
ClinVar Ensembl dbSNP |
|
| rs2152285011 | 270 | A>V | No | 1000Genomes | |
| rs1736856101 | 272 | I>T | No | TOPMed | |
| rs780045433 | 273 | E>D | No |
ExAC gnomAD |
|
|
rs772378892 COSM1063667 |
273 | E>K | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
| rs1242476335 | 274 | D>G | No | gnomAD | |
| rs1444949345 | 274 | D>H | No | TOPMed | |
| rs746787700 | 281 | K>N | No |
ExAC TOPMed gnomAD |
|
| rs768782698 | 282 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs1736858105 | 283 | L>F | No | TOPMed | |
| rs1471200455 | 283 | L>R | No | Ensembl | |
| rs1355149129 | 286 | I>L | No |
TOPMed gnomAD |
|
| rs61736757 | 287 | Q>R | No | TOPMed | |
| rs1239001632 | 288 | S>G | No | gnomAD | |
| rs1300605466 | 288 | S>R | No |
TOPMed gnomAD |
|
| rs776637146 | 289 | S>G | No |
ExAC gnomAD |
|
| rs761601084 | 289 | S>N | No |
ExAC gnomAD |
|
| rs13176883 | 290 | E>Q | No | Ensembl | |
| rs55772118 | 291 | S>I | No |
ExAC TOPMed gnomAD |
|
|
VAR_041899 rs55772118 |
291 | S>T | No |
UniProt ExAC TOPMed dbSNP gnomAD |
|
| rs2152285076 | 292 | F>L | No | Ensembl | |
| TCGA novel | 293 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM3852339 | 294 | K>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1736861059 | 294 | K>Q | No | TOPMed | |
| rs1736861265 | 294 | K>R | No | Ensembl | |
| TCGA novel | 295 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1158763615 RCV001816388 |
297 | S>* | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1158763615 | 297 | S>L | No |
TOPMed gnomAD |
|
| rs2152285081 | 297 | S>T | No | Ensembl | |
| TCGA novel | 298 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1736861702 | 299 | S>A | No | TOPMed | |
| rs1393909660 | 299 | S>L | No |
TOPMed gnomAD |
|
| rs1736862205 | 300 | G>D | No | TOPMed | |
| rs765989161 | 301 | N>I | No |
ExAC TOPMed gnomAD |
|
| rs1736862669 | 301 | N>K | No | Ensembl | |
| rs765989161 | 301 | N>S | No |
ExAC TOPMed gnomAD |
|
|
COSM6169728 rs761019734 COSM1542418 |
302 | A>V | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs1449299807 | 304 | L>M | No |
TOPMed gnomAD |
|
| rs1297950210 | 305 | Q>P | No | gnomAD | |
| rs1449227973 | 307 | L>F | No | gnomAD | |
| rs1449227973 | 307 | L>I | No | gnomAD | |
| rs1736864243 | 307 | L>P | No | TOPMed | |
|
COSM3852340 rs1310109027 |
309 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs1561298933 | 310 | K>E | No |
TOPMed gnomAD |
|
| rs754380650 | 310 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs1736865288 | 312 | S>P | No | Ensembl | |
| rs1280738734 | 313 | T>A | No | gnomAD | |
| rs757656465 | 313 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs1736866351 | 314 | M>V | No | TOPMed | |
| rs1736866563 | 316 | D>A | No | Ensembl | |
| rs758751391 | 317 | R>Q | No |
ExAC gnomAD |
|
|
RCV001814750 COSM3852341 rs368654118 |
317 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs1262031774 | 319 | H>D | No | TOPMed | |
| rs1216955678 | 319 | H>L | No | TOPMed | |
|
rs1262031774 RCV001774218 |
319 | H>Y | No |
ClinVar TOPMed dbSNP |
|
| rs201886294 | 320 | S>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1427934255 | 322 | R>Q | No |
TOPMed gnomAD |
|
| rs1192424311 | 322 | R>W | No | gnomAD | |
| rs540383553 | 323 | Q>H | No |
TOPMed gnomAD |
|
| rs1398497776 | 324 | H>R | No | gnomAD | |
| rs1313318619 | 324 | H>Y | No |
TOPMed gnomAD |
|
| TCGA novel | 327 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1370527119 | 328 | M>I | No | gnomAD | |
| rs1332218483 | 328 | M>L | No | gnomAD | |
| rs1332218483 | 328 | M>V | No | gnomAD | |
| rs769591904 | 329 | W>C | No |
ExAC gnomAD |
|
| rs1736870777 | 330 | H>N | No | Ensembl | |
| rs1736870989 | 331 | V>M | No |
TOPMed gnomAD |
|
| rs1276669173 | 332 | R>G | No |
TOPMed gnomAD |
|
| rs1736871714 | 335 | K>E | No | gnomAD | |
| rs772824996 | 335 | K>T | No |
ExAC TOPMed gnomAD |
|
| rs773993903 | 338 | Q>H | No |
ExAC TOPMed gnomAD |
|
| rs764462386 | 342 | L>M | No |
ExAC TOPMed gnomAD |
|
|
VAR_059802 rs16903367 |
348 | D>E | No |
UniProt Ensembl dbSNP |
|
| COSM6169726 | 351 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 353 | F>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1312904411 | 354 | D>E | No | TOPMed | |
| rs1737043562 | 354 | D>H | No |
TOPMed gnomAD |
|
| rs1737043961 | 356 | I>L | No | TOPMed | |
| rs763508047 | 358 | H>P | No |
ExAC gnomAD |
|
| rs1737044412 | 358 | H>Y | No | Ensembl | |
| rs766600736 | 359 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs751661847 | 361 | G>A | No |
ExAC TOPMed gnomAD |
|
| rs751661847 | 361 | G>D | No |
ExAC TOPMed gnomAD |
|
| rs751661847 | 361 | G>V | No |
ExAC TOPMed gnomAD |
|
|
COSM165153 rs767616589 |
364 | L>V | breast [Cosmic] | No |
cosmic curated ExAC gnomAD |
| rs1255916908 | 367 | Y>C | No | gnomAD | |
| rs953259205 | 367 | Y>H | No |
TOPMed gnomAD |
|
|
COSM3983976 rs1440979630 |
370 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs1737046990 | 375 | P>L | No | TOPMed | |
| rs1338434899 | 375 | P>S | No | TOPMed | |
| rs752600355 | 376 | H>D | No |
ExAC TOPMed gnomAD |
|
| rs1238325790 | 376 | H>L | No |
TOPMed gnomAD |
|
| rs752600355 | 376 | H>Y | No |
ExAC TOPMed gnomAD |
|
| rs777563367 | 377 | A>T | No |
ExAC gnomAD |
|
| rs573799858 | 378 | M>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
RCV001268136 rs1737048333 |
379 | E>* | No |
ClinVar Ensembl dbSNP |
|
|
RCV001192407 rs369621289 |
381 | Q>H | No |
ClinVar ESP TOPMed dbSNP gnomAD |
|
| rs1420247491 | 382 | T>M | No |
TOPMed gnomAD |
|
| rs1737049454 | 385 | N>D | No | gnomAD | |
| rs745359110 | 385 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs1194393216 | 386 | H>N | No | TOPMed | |
| rs1334849636 | 387 | F>L | No | gnomAD | |
| COSM1063669 | 388 | A>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs775010431 | 389 | M>V | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 391 | C>E | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs746616447 | 391 | C>F | No |
ExAC gnomAD |
|
| rs746616447 | 391 | C>Y | No |
ExAC gnomAD |
|
| rs923928916 | 392 | M>V | No |
TOPMed gnomAD |
|
| rs1737424132 | 393 | N>S | No | TOPMed | |
| rs1275833555 | 394 | V>M | No |
TOPMed gnomAD |
|
| rs1317606169 | 395 | Y>C | No |
TOPMed gnomAD |
|
| rs779569507 | 398 | I>M | No |
ExAC TOPMed gnomAD |
|
| rs1376568561 | 398 | I>R | No | gnomAD | |
| rs1737426317 | 399 | N>K | No | TOPMed | |
| rs959111835 | 400 | R>C | No | Ensembl | |
| rs377745794 | 400 | R>H | No |
ESP TOPMed gnomAD |
|
| rs1362736159 | 402 | M>I | No | TOPMed | |
| rs1561306182 | 402 | M>K | No | Ensembl | |
| rs768326007 | 402 | M>V | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 403 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1561306221 | 404 | V>A | No | Ensembl | |
| rs1737428534 | 405 | A>T | No | Ensembl | |
| rs1199418740 | 406 | N>D | No | gnomAD | |
|
rs771628411 COSM5461475 |
407 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
|
rs775000376 COSM673681 |
407 | R>H | endometrium [Cosmic] | No |
cosmic curated ExAC gnomAD |
| rs775000376 | 407 | R>L | No |
ExAC gnomAD |
|
| rs1737430286 | 408 | L>V | No | Ensembl | |
| rs951795219 | 409 | V>A | No |
TOPMed gnomAD |
|
| rs951795219 | 409 | V>G | No |
TOPMed gnomAD |
|
| rs1737430501 | 409 | V>M | No | TOPMed | |
| rs760028502 | 411 | S>F | No |
ExAC gnomAD |
|
| rs772064848 | 412 | G>D | No |
ExAC gnomAD |
|
| rs775597120 | 413 | H>Y | No |
ExAC gnomAD |
|
| rs1737432352 | 414 | Y>F | No | TOPMed | |
| rs764278202 | 416 | S>L | No |
ExAC TOPMed gnomAD |
|
| rs761601976 | 418 | Q>H | No |
ExAC gnomAD |
|
| rs764954869 | 419 | I>L | No | ExAC | |
| rs750351439 | 419 | I>M | No |
ExAC gnomAD |
|
| rs1737434053 | 420 | R>G | No | Ensembl | |
| rs907544573 | 420 | R>S | No | gnomAD | |
| rs1581558198 | 421 | Q>E | No | Ensembl | |
| rs758317514 | 422 | I>M | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 422 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs779473594 | 423 | A>G | No |
ExAC TOPMed gnomAD |
|
| rs1263777171 | 423 | A>T | No |
TOPMed gnomAD |
|
| rs779473594 | 423 | A>V | No |
ExAC TOPMed gnomAD |
|
|
rs1737435979 RCV001763574 |
424 | S>G | No |
ClinVar TOPMed dbSNP |
|
| rs754648881 | 424 | S>N | No |
ExAC TOPMed gnomAD |
|
| rs780992368 | 425 | Q>H | No |
ExAC TOPMed gnomAD |
|
|
COSM736546 rs747731735 |
427 | E>Q | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
| rs771432335 | 429 | E>G | No |
ExAC TOPMed gnomAD |
|
| rs1424019273 | 429 | E>K | No |
TOPMed gnomAD |
|
| rs1050284498 | 432 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| rs1249893377 | 432 | A>V | No | TOPMed | |
| rs1737439096 | 433 | F>L | No | gnomAD | |
| rs772598492 | 434 | A>E | No |
ExAC TOPMed gnomAD |
|
|
rs772598492 COSM1063672 |
434 | A>V | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs1581558415 | 437 | L>P | No | Ensembl | |
| rs1401791837 | 440 | R>W | No |
TOPMed gnomAD |
|
| COSM3852342 | 446 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV002225251 rs2152290090 |
446 | M>T | No |
ClinVar Ensembl dbSNP |
|
| rs760794456 | 446 | M>V | No |
ExAC gnomAD |
|
| rs1737441691 | 448 | S>C | No | TOPMed | |
| rs1737441913 | 449 | I>F | No | TOPMed | |
| rs1737441913 | 449 | I>V | No | TOPMed | |
| rs1737442691 | 451 | H>Q | No | TOPMed | |
| rs1395679870 | 451 | H>R | No | gnomAD | |
| rs1561306544 | 451 | H>Y | No | Ensembl | |
| rs1323712509 | 454 | A>T | No | gnomAD | |
| rs1350273887 | 455 | E>A | No | gnomAD | |
| rs757422994 | 457 | Y>C | No |
TOPMed gnomAD |
|
| rs757422994 | 457 | Y>F | No |
TOPMed gnomAD |
|
| rs998709797 | 458 | M>T | No | Ensembl | |
| rs1207806113 | 458 | M>V | No | gnomAD | |
| rs748407607 | 459 | S>N | No |
ExAC gnomAD |
|
| rs1271035905 | 461 | V>A | No |
TOPMed gnomAD |
|
| rs769978944 | 461 | V>M | No |
ExAC gnomAD |
|
| TCGA novel | 462 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1738188244 | 463 | S>A | No | gnomAD | |
| rs772934278 | 465 | C>Y | No |
ExAC gnomAD |
|
| rs1402056642 | 467 | A>V | No | TOPMed | |
|
RCV002265522 rs1014767267 |
468 | C>W | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs146347032 | 469 | G>D | No |
ESP gnomAD |
|
| rs762800062 | 469 | G>S | No |
ExAC gnomAD |
|
| rs146347032 | 469 | G>V | No |
ESP gnomAD |
|
| TCGA novel | 473 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs766016794 | 474 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs139674608 | 474 | P>S | No |
ESP TOPMed gnomAD |
|
| COSM3776389 | 475 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1738190630 | 475 | S>T | No | TOPMed | |
| rs1183394288 | 476 | E>V | No | gnomAD | |
| rs1174434796 | 478 | Q>H | No | gnomAD | |
| TCGA novel | 478 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1738191241 | 481 | E>D | No | Ensembl | |
| COSM3611870 | 481 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs774362448 | 482 | D>A | No |
ExAC gnomAD |
|
| rs774362448 | 482 | D>G | No |
ExAC gnomAD |
|
| rs1177993409 | 485 | H>R | No |
TOPMed gnomAD |
|
| rs1230769653 | 486 | H>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1330852840 | 487 | H>Y | No | gnomAD | |
| rs1398362558 | 488 | Q>L | No | gnomAD | |
| rs1366860763 | 490 | I>M | No | gnomAD | |
| rs767169936 | 490 | I>V | No |
ExAC gnomAD |
|
| TCGA novel | 492 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs777551741 | 493 | H>D | No | TOPMed | |
| rs1193992552 | 494 | I>M | No |
TOPMed gnomAD |
|
| rs752225450 | 494 | I>T | No |
ExAC TOPMed gnomAD |
|
| rs755881570 | 495 | T>I | No |
ExAC TOPMed gnomAD |
|
|
COSM3429119 rs755881570 |
495 | T>S | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs1197779278 | 496 | L>I | No |
TOPMed gnomAD |
|
|
RCV001758031 rs1197779278 |
496 | L>V | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs763790629 | 497 | A>G | No |
ExAC gnomAD |
|
| rs763790629 | 497 | A>V | No |
ExAC gnomAD |
|
| rs750820152 | 499 | S>A | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 500 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs144438502 | 501 | V>F | No |
ESP ExAC TOPMed gnomAD |
|
| rs144438502 | 501 | V>I | No |
ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 504 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1379959734 | 506 | K>N | No | Ensembl | |
| rs201650861 | 507 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs1292772983 | 509 | L>V | No | TOPMed | |
| rs1739396272 | 511 | K>R | No | TOPMed | |
| rs1458189675 | 514 | R>Q | No | TOPMed | |
| rs1039138278 | 518 | P>A | No | Ensembl | |
| rs1739398561 | 519 | G>A | No | TOPMed | |
| TCGA novel | 519 | G>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs753246698 | 519 | G>S | No |
ExAC TOPMed gnomAD |
|
| rs202028964 | 520 | S>N | No |
TOPMed gnomAD |
|
| rs202028964 | 520 | S>T | No |
TOPMed gnomAD |
|
| rs745646251 | 522 | D>N | No |
ExAC TOPMed gnomAD |
|
| rs75604913 | 523 | S>P | No | Ensembl | |
|
rs775573411 RCV001665311 |
528 | A>T | No |
ClinVar ExAC dbSNP gnomAD |
|
| rs1561330944 | 529 | N>K | No | Ensembl | |
| rs1739400997 | 529 | N>S | No | TOPMed | |
| rs1185529960 | 530 | Y>H | No | gnomAD | |
| rs760640480 | 531 | S>P | No |
ExAC TOPMed gnomAD |
|
| rs775971526 | 534 | V>M | No |
ExAC TOPMed gnomAD |
|
|
RCV002226175 rs2152305881 |
536 | H>L | No |
ClinVar Ensembl dbSNP |
|
| rs1739402785 | 536 | H>Q | No | TOPMed | |
| rs2152305891 | 539 | D>N | No | Ensembl | |
| rs1739403728 | 541 | I>F | No | Ensembl | |
|
rs751984960 COSM3768213 |
543 | E>K | liver [Cosmic] | No |
cosmic curated ExAC gnomAD |
| rs751984960 | 543 | E>Q | No |
ExAC gnomAD |
|
|
RCV001774661 rs1315157839 |
544 | V>L | No |
ClinVar dbSNP gnomAD |
|
| rs1315157839 | 544 | V>M | No | gnomAD | |
| rs1739404957 | 546 | H>Y | No | Ensembl | |
| rs1739405420 | 548 | Q>E | No | gnomAD | |
| rs767807319 | 548 | Q>R | No |
ExAC gnomAD |
|
| rs753228607 | 549 | R>Q | No |
ExAC gnomAD |
|
| rs1739406494 | 550 | Q>H | No | TOPMed | |
| rs1387226467 | 551 | L>V | No | TOPMed | |
| rs1581602723 | 552 | E>G | No | Ensembl | |
| rs1278308018 | 553 | N>K | No |
TOPMed gnomAD |
|
|
rs1440927699 COSM1434837 |
554 | I>V | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| rs753842516 | 558 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs1739408543 | 558 | R>H | No |
TOPMed gnomAD |
|
| rs1739408543 | 558 | R>L | No |
TOPMed gnomAD |
|
| rs1739409001 | 559 | K>E | No | TOPMed | |
| rs779275458 | 559 | K>R | No |
ExAC gnomAD |
|
| rs746022148 | 560 | V>L | No |
ExAC gnomAD |
|
| rs761067835 | 561 | R>G | No |
TOPMed gnomAD |
|
|
rs772006621 RCV001816390 |
561 | R>Q | No |
ClinVar ExAC dbSNP gnomAD |
|
|
COSM5004825 rs761067835 |
561 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| COSM1063673 | 568 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV001200469 rs1739412011 |
568 | L>R | No |
ClinVar Ensembl dbSNP |
|
| rs969344896 | 569 | C>G | No |
TOPMed gnomAD |
|
| rs1739412977 | 571 | F>L | No | Ensembl | |
| rs1739413192 | 572 | Q>R | No | TOPMed | |
|
RCV000584887 CA359229053 rs1554054155 |
573 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs528544343 | 575 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs767903993 | 576 | Q>H | No |
ExAC gnomAD |
|
| rs762540584 | 576 | Q>R | No |
ExAC gnomAD |
|
| COSM3697055 | 582 | I>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 583 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1215175918 | 584 | N>K | No |
TOPMed gnomAD |
|
|
rs1740838436 RCV001589700 |
586 | G>R | No |
ClinVar Ensembl dbSNP |
|
| rs2152315642 | 587 | E>K | No | Ensembl | |
| rs1172004134 | 588 | A>V | No | gnomAD | |
| rs1157647105 | 589 | F>V | No | TOPMed | |
| rs775983297 | 596 | V>L | No | ExAC | |
| rs764454794 | 599 | S>Y | No |
ExAC TOPMed gnomAD |
|
| rs762333652 | 600 | L>I | No |
ExAC gnomAD |
|
| COSM736540 | 602 | R>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1311719411 | 602 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1340215037 | 607 | Q>K | No | gnomAD | |
| rs765447455 | 608 | K>I | No | ExAC | |
| rs1246353846 | 609 | R>C | No |
TOPMed gnomAD |
|
| rs1479463486 | 609 | R>H | No | Ensembl | |
| rs1326846194 | 610 | H>Q | No | gnomAD | |
| rs1298070926 | 610 | H>R | No | gnomAD | |
| rs1244204101 | 617 | A>E | No | gnomAD | |
| rs1335434931 | 620 | T>A | No |
TOPMed gnomAD |
|
|
RCV001268769 rs1741436306 |
621 | Y>missing | No |
ClinVar dbSNP |
|
| rs962795710 | 624 | A>G | No |
TOPMed gnomAD |
|
| rs1363784876 | 624 | A>T | No |
TOPMed gnomAD |
|
| rs2152319276 | 625 | D>H | No | Ensembl | |
|
RCV002255021 rs997387706 |
632 | E>K | No |
ClinVar TOPMed dbSNP |
|
|
RCV001765868 rs200911185 |
636 | Q>H | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 637 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2152319294 | 638 | G>E | No | Ensembl | |
| rs2152319294 | 638 | G>V | No | Ensembl | |
| TCGA novel | 639 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1380265259 | 642 | P>H | No | gnomAD | |
| rs918238000 | 643 | E>K | No | gnomAD | |
| TCGA novel | 644 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM736537 | 644 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs759760873 | 645 | I>T | No |
ExAC gnomAD |
|
| rs752518769 | 646 | Y>C | No |
ExAC gnomAD |
|
| rs752518769 | 646 | Y>F | No |
ExAC gnomAD |
|
| rs866011235 | 647 | Q>* | No | Ensembl | |
| rs2152319317 | 648 | A>S | No | Ensembl | |
| rs2152319317 | 648 | A>T | No | Ensembl | |
| rs756104781 | 649 | A>D | No |
ExAC TOPMed gnomAD |
|
| rs756104781 | 649 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs1408560528 | 650 | H>R | No | gnomAD | |
| rs540891545 | 654 | D>E | No |
1000Genomes ExAC gnomAD |
|
|
COSM4943633 rs753710560 |
655 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs1741444211 | 655 | R>W | No | TOPMed | |
| rs2152319343 | 657 | Q>R | No | Ensembl | |
| rs951055069 | 660 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs778437231 | 661 | R>Q | No |
ExAC TOPMed gnomAD |
|
|
COSM174878 RCV001763307 rs986707175 |
661 | R>W | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA TOPMed dbSNP |
| rs1741445718 | 662 | R>C | No | Ensembl | |
|
COSM1063676 rs2152319357 |
662 | R>H | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2152319360 | 664 | E>K | No | Ensembl | |
| rs2152319368 | 665 | Q>* | No | Ensembl | |
|
COSM3947087 rs2152319368 |
665 | Q>K | lung [Cosmic] | No |
cosmic curated Ensembl |
|
TCGA novel rs1741445944 RCV001268694 |
666 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ClinVar NCI-TCGA dbSNP gnomAD |
| rs2152319372 | 666 | R>Q | No | Ensembl | |
| rs770215880 | 671 | D>G | No |
ExAC gnomAD |
|
| rs748516875 | 671 | D>N | No |
ExAC gnomAD |
|
| rs1480780205 | 672 | M>T | No | gnomAD | |
|
RCV001752349 rs1280426987 |
672 | M>V | No |
ClinVar TOPMed dbSNP |
|
| rs2152319398 | 675 | S>T | No | Ensembl | |
| rs1741449874 | 679 | H>N | No | gnomAD | |
|
COSM1230433 rs1179399647 |
679 | H>R | large_intestine [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs1741449874 | 679 | H>Y | No | gnomAD | |
| rs1741450349 | 680 | V>M | No |
TOPMed gnomAD |
|
| rs2152335815 | 684 | W>G | No | Ensembl | |
| rs2152335815 | 684 | W>R | No | Ensembl | |
| rs1006572960 | 685 | T>A | No |
TOPMed gnomAD |
|
| rs760839749 | 685 | T>M | No |
ExAC TOPMed gnomAD |
|
| rs1006572960 | 685 | T>S | No |
TOPMed gnomAD |
|
| rs2152335830 | 686 | W>* | No | Ensembl | |
| rs2152335824 | 686 | W>R | No | Ensembl | |
| rs2152335832 | 687 | L>V | No | Ensembl | |
| rs776380654 | 688 | E>G | No |
ExAC gnomAD |
|
| rs776380654 | 688 | E>V | No |
ExAC gnomAD |
|
|
rs1743813042 RCV001583800 |
689 | E>D | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs761713558 | 689 | E>G | No |
ExAC gnomAD |
|
| rs1743812578 | 689 | E>K | No | TOPMed | |
| rs2152335856 | 690 | L>P | No | Ensembl | |
| rs1579420011 | 690 | L>V | No | Ensembl | |
| rs1743813775 | 691 | Q>K | No | Ensembl | |
| rs765216363 | 691 | Q>P | No | ExAC | |
| rs757939055 | 692 | K>N | No |
ExAC gnomAD |
|
| rs2152335870 | 693 | E>G | No | Ensembl | |
| rs1192892984 | 695 | L>M | No | gnomAD | |
| rs572666630 | 696 | D>E | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs778327240 | 697 | D>E | No |
ExAC gnomAD |
|
|
rs1476490075 COSM268097 |
697 | D>N | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| rs2152335887 | 697 | D>V | No | Ensembl | |
| rs2152335894 | 698 | V>E | No | Ensembl | |
| rs1743816087 | 698 | V>L | No | gnomAD | |
|
COSM129913 rs1743816087 |
698 | V>M | upper_aerodigestive_tract Variant assessed as Somatic; MODERATE impact. breast [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated gnomAD |
| rs1018676600 | 699 | Y>C | No | TOPMed | |
| rs2152335898 | 699 | Y>D | No | Ensembl | |
| TCGA novel | 699 | Y>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2152335908 | 700 | A>D | No | Ensembl | |
|
TCGA novel rs2152335906 |
700 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
|
rs2152335908 COSM231052 |
700 | A>V | skin [Cosmic] | No |
cosmic curated Ensembl |
| rs746306727 | 701 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs779481625 | 701 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs779481625 | 701 | E>Q | No |
ExAC TOPMed gnomAD |
|
| rs2152335917 | 702 | S>T | No | Ensembl | |
| rs1487014323 | 702 | S>W | No |
TOPMed gnomAD |
|
| rs1346633484 | 703 | V>A | No | gnomAD | |
| rs1346633484 | 703 | V>E | No | gnomAD | |
| rs1346633484 | 703 | V>G | No | gnomAD | |
| rs2152335923 | 703 | V>M | No | Ensembl | |
| rs2152335927 | 704 | E>G | No | Ensembl | |
| rs867222123 | 705 | A>G | No | TOPMed | |
| rs2152335929 | 705 | A>T | No | Ensembl | |
| rs867222123 | 705 | A>V | No | TOPMed | |
| rs2152335939 | 706 | V>E | No | Ensembl | |
| rs2152335939 | 706 | V>G | No | Ensembl | |
| COSM1329010 | 706 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2152335936 | 706 | V>M | No | Ensembl | |
|
RCV001567941 rs2152335941 |
707 | Q>* | No |
ClinVar Ensembl dbSNP |
|
| COSM6169723 | 707 | Q>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2152335943 | 707 | Q>R | No | Ensembl | |
| rs2152335954 | 708 | D>E | No | Ensembl | |
| rs776477154 | 708 | D>G | No |
ExAC gnomAD |
|
| COSM1486456 | 708 | D>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2152335945 | 708 | D>N | No | Ensembl | |
| rs1743820352 | 710 | I>T | No | TOPMed | |
| rs1743820617 | 711 | K>R | No |
TOPMed gnomAD |
|
| rs199843575 | 712 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP NCI-TCGA TOPMed gnomAD |
| rs370241914 | 712 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs370241914 | 712 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs199843575 | 712 | R>S | No |
ESP TOPMed gnomAD |
|
| rs2152335974 | 715 | Q>H | No | Ensembl | |
| rs2152335978 | 716 | Q>* | No | Ensembl | |
| rs1425892699 | 716 | Q>R | No | TOPMed | |
| rs1743822462 | 717 | Q>* | No | TOPMed | |
| rs1743822462 | 717 | Q>E | No | TOPMed | |
| rs2152335979 | 718 | Q>* | No | Ensembl | |
| rs957301202 | 718 | Q>H | No | Ensembl | |
| rs1182069823 | 719 | T>S | No |
TOPMed gnomAD |
|
| TCGA novel | 720 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs764882044 | 721 | L>V | No |
ExAC gnomAD |
|
|
TCGA novel rs2152335990 |
722 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2152335994 | 724 | T>I | No | Ensembl | |
| rs2152335994 | 724 | T>S | No | Ensembl | |
| rs1743823594 | 725 | V>I | No | Ensembl | |
| rs762757315 | 726 | N>K | No |
ExAC TOPMed gnomAD |
|
| rs773220678 | 726 | N>S | No |
ExAC TOPMed gnomAD |
|
|
rs748582661 COSM3941158 |
727 | V>M | Variant assessed as Somatic; MODERATE impact. oesophagus [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs754740027 | 728 | I>M | No |
ExAC gnomAD |
|
| rs2152336017 | 730 | E>K | No | Ensembl | |
| rs1469532105 | 731 | G>R | No |
TOPMed gnomAD |
|
| rs1469532105 | 731 | G>W | No |
TOPMed gnomAD |
|
| rs2152336026 | 732 | E>G | No | Ensembl | |
| TCGA novel | 732 | E>G | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1743825373 | 733 | D>E | No | Ensembl | |
| rs2152336030 | 733 | D>V | No | Ensembl | |
| rs374608016 | 734 | L>F | No |
ESP TOPMed |
|
| rs374608016 | 734 | L>I | No |
ESP TOPMed |
|
| rs1743825859 | 734 | L>P | No | gnomAD | |
| rs2152336041 | 737 | Q>* | No | Ensembl | |
| rs2152336046 | 739 | R>G | No | Ensembl | |
| rs1400935442 | 739 | R>T | No | gnomAD | |
| rs2152336046 | 739 | R>W | No | Ensembl | |
| rs1317529578 | 740 | D>G | No |
TOPMed gnomAD |
|
| rs777679500 | 740 | D>N | No |
ExAC TOPMed gnomAD |
|
| rs200680465 | 741 | S>P | No |
TOPMed gnomAD |
|
| rs1743921113 | 741 | S>Y | No | Ensembl | |
| rs749035614 | 742 | A>S | No |
ExAC gnomAD |
|
| rs917571624 | 743 | I>M | No |
TOPMed gnomAD |
|
| rs372417753 | 744 | S>A | No |
ESP TOPMed gnomAD |
|
| rs1237569354 | 745 | S>C | No | gnomAD | |
| rs569978674 | 746 | N>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs774448501 | 747 | K>R | No |
ExAC gnomAD |
|
| rs759501512 | 748 | T>N | No |
ExAC TOPMed gnomAD |
|
| rs1579423779 | 748 | T>P | No | Ensembl | |
| rs1443527118 | 749 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs1298397950 | 750 | H>D | No |
TOPMed gnomAD |
|
| rs1298397950 | 750 | H>N | No |
TOPMed gnomAD |
|
| rs1326041769 | 750 | H>Q | No | gnomAD | |
| TCGA novel | 750 | H>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 751 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs771740751 | 752 | S>N | No |
ExAC gnomAD |
|
| COSM6102476 | 753 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1253102448 | 754 | I>V | No | gnomAD | |
| rs1743925426 | 755 | N>S | No | TOPMed | |
| rs1743926511 | 757 | I>M | No | Ensembl | |
| rs1221562766 | 757 | I>T | No |
TOPMed gnomAD |
|
| rs1743925932 | 757 | I>V | No | Ensembl | |
| rs2152336829 | 759 | T>S | No | Ensembl | |
| rs763318267 | 760 | V>L | No |
ExAC gnomAD |
|
| rs752091643 | 762 | Q>R | No |
ExAC TOPMed gnomAD |
|
| rs2152336839 | 763 | Q>H | No | Ensembl | |
| rs1743929012 | 765 | D>G | No | TOPMed | |
| rs1743929802 | 766 | E>K | No | gnomAD | |
| rs781377350 | 767 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1743931431 | 769 | S>L | No | Ensembl | |
| rs1004065571 | 771 | M>L | No | TOPMed | |
| rs1417536192 | 771 | M>T | No | gnomAD | |
| rs1004065571 | 771 | M>V | No | TOPMed | |
| rs749981207 | 772 | E>A | No |
ExAC TOPMed gnomAD |
|
| COSM420853 | 772 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1427002018 | 773 | E>D | No |
TOPMed gnomAD |
|
| rs2152336884 | 773 | E>V | No | Ensembl | |
| rs757145033 | 775 | F>L | No |
ExAC TOPMed gnomAD |
|
| rs749466286 | 775 | F>S | No |
ExAC gnomAD |
|
| rs778813839 | 778 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs1297820764 | 778 | R>H | No | gnomAD | |
| rs771882752 | 779 | K>R | No |
ExAC TOPMed gnomAD |
|
|
rs1312892908 RCV000998356 COSM1162078 |
780 | I>M | kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
| TCGA novel | 781 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs369594884 | 786 | L>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs1222994738 | 789 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
|
rs1743938450 COSM1063688 |
789 | R>H | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated TOPMed gnomAD |
| rs1257590697 | 790 | I>T | No | Ensembl | |
| rs1561388764 | 790 | I>V | No | Ensembl | |
| rs1484699012 | 791 | F>L | No | gnomAD | |
|
rs1460535762 COSM1063689 |
795 | A>T | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs766766691 | 796 | I>N | No |
ExAC gnomAD |
|
| rs761413731 | 796 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs544836641 | 797 | D>E | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1743941042 | 797 | D>N | No | TOPMed | |
| rs750349254 | 803 | E>K | No | Ensembl | |
| COSM3674339 | 804 | S>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM3919227 RCV001268644 rs1744357992 |
805 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ClinVar Ensembl dbSNP NCI-TCGA Cosmic |
| rs1744358705 | 810 | S>F | No | TOPMed | |
| COSM6102475 | 811 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs201842997 | 811 | Q>R | No |
1000Genomes ExAC |
|
| rs1744359183 | 812 | Q>K | No | Ensembl | |
| rs754917832 | 813 | M>V | No |
ExAC gnomAD |
|
| rs200493238 | 814 | N>D | No |
1000Genomes ExAC TOPMed |
|
| rs1744360200 | 814 | N>K | No | TOPMed | |
| rs1221215729 | 814 | N>S | No |
TOPMed gnomAD |
|
| rs200493238 | 814 | N>Y | No |
1000Genomes ExAC TOPMed |
|
| COSM3852352 | 815 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1243976587 | 816 | F>S | No | gnomAD | |
| rs1179345610 | 816 | F>V | No | gnomAD | |
| rs146974332 | 817 | D>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs146974332 | 817 | D>N | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs748924196 | 818 | T>R | No |
ExAC gnomAD |
|
| rs1744362025 | 819 | E>D | No | Ensembl | |
|
rs772357380 RCV001310845 |
822 | T>M | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1744363454 | 825 | E>Q | No | Ensembl | |
| rs1288172279 | 826 | Q>H | No |
TOPMed gnomAD |
|
| rs1463408921 | 827 | R>C | No |
TOPMed gnomAD |
|
| rs534274585 | 830 | H>R | No | Ensembl | |
| rs1402857414 | 831 | H>R | No | gnomAD | |
| rs765357818 | 835 | A>T | No |
ExAC gnomAD |
|
| rs920184389 | 838 | M>K | No | Ensembl | |
| COSM1434847 | 838 | M>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs750704071 | 838 | M>V | No |
ExAC TOPMed gnomAD |
|
| rs763202605 | 839 | N>D | No |
ExAC gnomAD |
|
| TCGA novel | 841 | L>F | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs55642404 | 844 | D>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs149099057 | 845 | V>I | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1463619156 | 846 | I>V | No |
TOPMed gnomAD |
|
| rs1744369064 | 849 | G>R | No | Ensembl | |
| rs1744369521 | 851 | D>N | No | Ensembl | |
| rs755646315 | 852 | L>I | No |
ExAC TOPMed gnomAD |
|
| rs1744370913 | 854 | Q>H | No | TOPMed | |
| rs1435239428 | 854 | Q>K | No |
TOPMed gnomAD |
|
|
rs2152340689 RCV001557558 |
854 | Q>R | No |
ClinVar Ensembl dbSNP |
|
| rs1406401723 | 855 | Y>C | No | gnomAD | |
| COSM482268 | 856 | V>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs199976501 | 857 | N>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs770599683 | 858 | E>D | No |
ExAC gnomAD |
|
| rs748937366 | 858 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs1250515244 | 859 | V>A | No |
TOPMed gnomAD |
|
| rs370010304 | 864 | V>M | No |
ESP ExAC gnomAD |
|
| rs781661494 | 870 | R>K | No |
ExAC gnomAD |
|
| rs1744440458 | 870 | R>S | No | Ensembl | |
| rs2152341166 | 871 | D>Y | No | Ensembl | |
| rs550257170 | 872 | V>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1370909108 | 875 | A>G | No | Ensembl | |
| rs773226590 | 876 | T>A | No |
ExAC TOPMed gnomAD |
|
| rs1209461973 | 876 | T>S | No | gnomAD | |
| rs201818413 | 877 | R>P | No |
1000Genomes ExAC gnomAD |
|
| rs201818413 | 877 | R>Q | No |
1000Genomes ExAC gnomAD |
|
| COSM1063692 | 877 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1744442735 | 878 | V>L | No |
TOPMed gnomAD |
|
| COSM3611883 | 879 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA359212099 rs1554063913 RCV000523207 |
879 | Q>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs2152341194 | 882 | L>M | No | Ensembl | |
| rs1744444678 | 883 | E>D | No | Ensembl | |
| rs1473175637 | 887 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
|
RCV001770595 rs2152341207 |
888 | K>R | No |
ClinVar Ensembl dbSNP |
|
| rs1156562048 | 889 | Q>R | No | gnomAD | |
| rs775246507 | 891 | E>K | No |
ExAC gnomAD |
|
| rs775246507 | 891 | E>Q | No |
ExAC gnomAD |
|
| rs1561395959 | 893 | D>G | No | Ensembl | |
| rs1744447370 | 894 | L>V | No | Ensembl | |
| rs1744447836 | 895 | A>T | No | gnomAD | |
| rs879063035 | 895 | A>V | No | Ensembl | |
| rs1744448321 | 896 | A>* | No | Ensembl | |
| rs753652108 | 896 | A>S | No |
ExAC TOPMed gnomAD |
|
|
COSM181400 rs753652108 RCV001572742 |
896 | A>T | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs756805966 | 896 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs1336772535 | 898 | Q>H | No | gnomAD | |
| rs1057024282 | 898 | Q>K | No |
TOPMed gnomAD |
|
| rs1744450456 | 900 | R>G | No | gnomAD | |
| rs1179962549 | 900 | R>Q | No | TOPMed | |
| rs1189367979 | 901 | K>T | No | Ensembl | |
| rs1744451400 | 903 | L>R | No | TOPMed | |
| rs764604909 | 907 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs764604909 | 907 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs750128261 | 908 | Q>H | No |
ExAC gnomAD |
|
| rs1579439230 | 908 | Q>R | No | Ensembl | |
| rs1744452684 | 909 | L>V | No | Ensembl | |
| rs535720184 | 910 | R>C | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs781727544 | 910 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs1420870813 | 911 | H>R | No | Ensembl | |
| rs1744453886 | 916 | V>L | No | TOPMed | |
| rs1744454404 | 918 | Q>L | No | Ensembl | |
| COSM1063693 | 919 | V>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs780268669 | 924 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs1744644855 | 926 | G>A | No | Ensembl | |
| COSM4878787 | 926 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs761866494 | 928 | S>A | No | ExAC | |
| rs1226245080 | 929 | M>T | No | gnomAD | |
| rs1744646056 | 931 | N>H | No | Ensembl | |
|
rs1400510509 RCV001665275 |
931 | N>S | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs773217476 | 933 | G>E | No |
ExAC gnomAD |
|
| rs1245002176 | 934 | L>P | No | gnomAD | |
| rs762562255 | 935 | I>T | No |
ExAC TOPMed gnomAD |
|
| rs1744647684 | 935 | I>V | No | gnomAD | |
| rs146329050 | 936 | T>I | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM3852354 rs751285174 |
937 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs1744649258 | 938 | S>T | No | gnomAD | |
| rs1744650392 | 941 | Q>* | No | TOPMed | |
| rs1744650392 | 941 | Q>K | No | TOPMed | |
| rs779397277 | 948 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs1217397707 | 949 | E>V | No |
TOPMed gnomAD |
|
| rs1744651716 | 951 | E>K | No |
TOPMed gnomAD |
|
| rs1744651716 | 951 | E>Q | No |
TOPMed gnomAD |
|
| rs1744652236 | 952 | Q>E | No | TOPMed | |
| rs1744652458 | 952 | Q>H | No | TOPMed | |
| rs2152342645 | 956 | A>V | No | Ensembl | |
| rs758498399 | 957 | I>V | No |
ExAC gnomAD |
|
| rs1275859993 | 961 | H>Y | No | Ensembl | |
|
rs139892017 COSM3209793 |
964 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs1412943132 | 966 | Q>P | No | gnomAD | |
| rs1480174905 | 967 | V>L | No | gnomAD | |
| rs1744814725 | 970 | K>N | No | TOPMed | |
| rs781279804 | 973 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs1466435104 | 974 | M>I | No | gnomAD | |
| rs1360850805 | 974 | M>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs748352066 | 975 | L>I | No |
ExAC gnomAD |
|
| rs748352066 | 975 | L>V | No |
ExAC gnomAD |
|
| rs1744816827 | 978 | N>I | No | Ensembl | |
| rs1358386000 | 979 | H>D | No | TOPMed | |
|
rs1358386000 RCV002269765 |
979 | H>N | No |
ClinVar TOPMed dbSNP |
|
| rs749289922 | 979 | H>R | No |
ExAC gnomAD |
|
| rs1358386000 | 979 | H>Y | No | TOPMed | |
|
rs2152343920 RCV001761042 |
980 | Y>H | No |
ClinVar Ensembl dbSNP |
|
| rs774072211 | 981 | D>N | No |
ExAC TOPMed gnomAD |
|
|
rs1744820101 TCGA novel |
982 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs1314464978 | 982 | M>T | No |
TOPMed gnomAD |
|
| rs140274783 | 982 | M>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs775030885 | 983 | D>E | No |
ExAC gnomAD |
|
| rs771556580 | 983 | D>V | No |
ExAC TOPMed gnomAD |
|
| rs1744820465 | 983 | D>Y | No | Ensembl | |
| rs765632935 | 984 | M>I | No |
ExAC gnomAD |
|
| TCGA novel | 984 | M>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs760337633 | 984 | M>L | No |
ExAC TOPMed gnomAD |
|
| rs760337633 | 984 | M>V | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 986 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1744822788 | 987 | D>N | No | Ensembl | |
| rs1292430926 | 989 | A>T | No | gnomAD | |
| rs2152343954 | 989 | A>V | No | Ensembl | |
| rs1744824975 | 990 | E>G | No | TOPMed | |
| rs766872962 | 990 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs1744825654 | 991 | K>N | No | TOPMed | |
| rs752042446 | 993 | A>S | No |
ExAC gnomAD |
|
| COSM4736287 | 993 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1388227601 | 994 | S>C | No | gnomAD | |
|
CA359215696 rs1554064737 RCV000656251 |
996 | W>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs1380434826 | 997 | Q>H | No | Ensembl | |
| rs1744827822 | 999 | L>F | No | TOPMed | |
| rs1744828229 | 1001 | L>F | No | Ensembl | |
| rs1452772134 | 1002 | K>R | No | gnomAD | |
| rs1054729465 | 1003 | M>V | No | gnomAD | |
|
rs1180113077 COSM1063695 |
1006 | R>C | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed |
|
TCGA novel rs1744829616 |
1006 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1180113077 | 1006 | R>S | No | TOPMed | |
|
rs1050603011 RCV001797520 |
1010 | V>F | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1050603011 | 1010 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1297562884 | 1011 | N>S | No |
TOPMed gnomAD |
|
| rs2152343995 | 1013 | S>C | No | Ensembl | |
|
rs1579448914 RCV001008964 |
1014 | V>missing | No |
ClinVar dbSNP |
|
| rs757047365 | 1014 | V>L | No |
ExAC gnomAD |
|
| rs745774257 | 1015 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs1744833042 | 1021 | E>G | No | TOPMed | |
| rs1248662338 | 1022 | Q>K | No | gnomAD | |
| rs768093679 | 1024 | C>R | No |
ExAC gnomAD |
|
| COSM6102473 | 1025 | S>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1295198271 | 1027 | L>V | No | TOPMed | |
| rs774754250 | 1028 | E>K | No |
ExAC TOPMed gnomAD |
|
| COSM1434848 | 1028 | E>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1744882903 | 1032 | Q>H | No | TOPMed | |
| rs372172691 | 1035 | K>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs1340365688 | 1037 | E>D | No |
TOPMed gnomAD |
|
| rs760851187 | 1038 | E>D | No |
ExAC gnomAD |
|
| rs1365790555 | 1039 | D>H | No | TOPMed | |
| rs1197074430 | 1041 | C>F | No |
TOPMed gnomAD |
|
| TCGA novel | 1042 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762100141 RCV001555948 |
1043 | G>R | No |
ClinVar ExAC dbSNP gnomAD |
|
| rs1228082689 | 1044 | A>G | No |
TOPMed gnomAD |
|
| rs1744886304 | 1044 | A>T | No | gnomAD | |
| rs1331373351 | 1045 | D>G | No |
TOPMed gnomAD |
|
| COSM3852356 | 1046 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs750222077 | 1047 | L>R | No |
ExAC gnomAD |
|
| rs758059464 | 1048 | G>A | No |
ExAC gnomAD |
|
| rs1277867380 | 1048 | G>C | No | gnomAD | |
| rs1277867380 | 1048 | G>S | No | gnomAD | |
|
RCV001570234 rs200954380 |
1050 | N>I | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs200954380 | 1050 | N>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs754511053 | 1053 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs566882830 | 1055 | H>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs755777586 RCV001264643 |
1056 | V>L | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs755777586 | 1056 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs779211429 | 1057 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs772267354 | 1059 | M>I | No |
ExAC gnomAD |
|
| rs776163909 | 1060 | I>M | No |
ExAC TOPMed gnomAD |
|
| rs1336709209 | 1060 | I>S | No | gnomAD | |
| rs1286732042 | 1065 | E>Q | No | gnomAD | |
| COSM1329008 | 1066 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs2152344481 RCV001363316 |
1071 | L>R | No |
ClinVar Ensembl dbSNP |
|
| rs1254202009 | 1073 | A>V | No | gnomAD | |
|
RCV002259444 rs2152348001 |
1075 | T>A | No |
ClinVar Ensembl dbSNP |
|
| rs1745368549 | 1077 | A>S | No | Ensembl | |
|
RCV001596591 rs2152348013 |
1079 | R>K | No |
ClinVar Ensembl dbSNP |
|
| rs1392488427 | 1080 | N>D | No |
TOPMed gnomAD |
|
|
rs1554065893 RCV000627468 CA658796507 |
1088 | L>missing | No |
ClinGen ClinVar dbSNP |
|
| rs766210272 | 1092 | S>G | No |
ExAC gnomAD |
|
| rs145133665 | 1092 | S>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs767445416 | 1093 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs1432889185 | 1095 | M>I | No | gnomAD | |
| rs752574345 | 1095 | M>V | No |
ExAC TOPMed gnomAD |
|
| COSM1434850 | 1096 | P>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV001093479 rs866655659 |
1096 | P>S | No |
ClinVar Ensembl dbSNP |
|
| rs1260959519 | 1098 | M>R | No |
TOPMed gnomAD |
|
| rs1260959519 | 1098 | M>T | No |
TOPMed gnomAD |
|
| rs755673302 | 1100 | T>M | No |
ExAC gnomAD |
|
| rs763472464 | 1102 | I>V | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 1103 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1240839606 | 1103 | K>R | No | TOPMed | |
| rs866628206 | 1111 | N>S | No | Ensembl | |
| rs1254429898 | 1112 | I>F | No | gnomAD | |
| rs1223245746 | 1112 | I>T | No |
TOPMed gnomAD |
|
| rs373335645 | 1119 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs1745725093 | 1119 | R>W | No | Ensembl | |
| rs761628061 | 1120 | E>* | No |
ExAC gnomAD |
|
| rs764989914 | 1122 | R>G | No |
ExAC gnomAD |
|
| rs1423073045 | 1122 | R>K | No | gnomAD | |
| COSM3852357 | 1122 | R>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs755423049 | 1123 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs781659744 | 1124 | L>F | No |
ExAC gnomAD |
|
| rs1415148491 | 1125 | H>R | No |
TOPMed gnomAD |
|
| rs1745727900 | 1128 | T>A | No | gnomAD | |
| rs1307069995 | 1129 | M>V | No | gnomAD | |
| rs370765048 | 1130 | R>K | No | Ensembl | |
| TCGA novel | 1131 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1326362026 | 1132 | R>K | No | gnomAD | |
| rs756564362 | 1133 | R>W | No |
ExAC gnomAD |
|
| rs1307018857 | 1136 | Q>H | No | gnomAD | |
|
RCV001813873 rs2152351208 |
1139 | Q>* | No |
ClinVar Ensembl dbSNP |
|
| rs1217013472 | 1141 | V>M | No | Ensembl | |
| rs1233227636 | 1144 | E>D | No |
TOPMed gnomAD |
|
| rs1254742885 | 1145 | R>K | No | gnomAD | |
| rs1486879519 | 1146 | S>G | No | gnomAD | |
| rs1745732031 | 1147 | A>T | No | Ensembl | |
| rs749331753 | 1148 | K>N | No |
ExAC gnomAD |
|
| rs1388167953 | 1150 | A>S | No | gnomAD | |
| rs1431373722 | 1151 | L>F | No | gnomAD | |
| rs150972552 | 1157 | N>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs2152354111 | 1158 | G>C | No | Ensembl | |
| rs1746067377 | 1158 | G>D | No | TOPMed | |
| rs2152354118 | 1159 | E>D | No | Ensembl | |
| rs1746067912 | 1161 | Y>C | No | gnomAD | |
| rs1746068213 | 1162 | L>P | No | Ensembl | |
| rs1746068448 | 1163 | S>Y | No | TOPMed | |
| rs2152354130 | 1164 | T>A | No | Ensembl | |
| rs1746069160 | 1167 | S>A | No | Ensembl | |
|
RCV002267222 rs779970506 |
1168 | T>M | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| COSM1310809 | 1170 | S>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs530189496 | 1171 | S>N | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1746070797 | 1172 | I>M | No | gnomAD | |
| rs1274016680 | 1175 | T>S | No |
TOPMed gnomAD |
|
| rs772831079 | 1177 | E>D | No |
ExAC gnomAD |
|
| rs773995062 | 1181 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
|
rs764481461 RCV002253036 |
1183 | E>K | No |
ClinVar ExAC dbSNP gnomAD |
|
| rs764481461 | 1183 | E>Q | No |
ExAC gnomAD |
|
| rs1412634820 | 1185 | F>V | No | gnomAD | |
|
RCV001195636 rs1746074176 |
1188 | T>A | No |
ClinVar Ensembl dbSNP |
|
| rs1746074393 | 1190 | K>E | No | Ensembl | |
| rs1482492170 | 1192 | T>A | No | gnomAD | |
| rs1056110989 | 1193 | K>E | No |
TOPMed gnomAD |
|
| TCGA novel | 1195 | R>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1328026877 | 1195 | R>K | No | Ensembl | |
| TCGA novel | 1200 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs917625867 | 1201 | Q>E | No | gnomAD | |
| rs1455784522 | 1201 | Q>H | No |
TOPMed gnomAD |
|
| rs1746643092 | 1201 | Q>L | No | Ensembl | |
| rs1470190534 | 1203 | A>S | No | gnomAD | |
| TCGA novel | 1204 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1746643808 | 1204 | D>V | No | gnomAD | |
| rs1159706044 | 1205 | G>D | No | gnomAD | |
| COSM1310810 | 1207 | C>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM1288637 | 1212 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs76375698 | 1213 | H>N | No | Ensembl | |
| rs373893038 | 1214 | A>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs887593117 | 1215 | A>G | No | gnomAD | |
| rs1254270154 | 1215 | A>S | No |
TOPMed gnomAD |
|
| rs1306390691 | 1216 | E>D | No | gnomAD | |
| COSM1434852 | 1219 | K>N | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM4613649 rs1554068529 |
1220 | C>M | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
| rs1287178289 | 1220 | C>R | No | gnomAD | |
| rs1287178289 | 1220 | C>S | No | gnomAD | |
| TCGA novel | 1221 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs150161940 | 1222 | T>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs773745036 | 1224 | V>A | No |
ExAC TOPMed gnomAD |
|
| rs1236239270 | 1224 | V>M | No | gnomAD | |
| rs763490348 | 1225 | D>H | No |
ExAC TOPMed gnomAD |
|
| rs763490348 | 1225 | D>N | No |
ExAC TOPMed gnomAD |
|
| rs766425343 | 1226 | K>E | No |
ExAC TOPMed gnomAD |
|
| rs1252208341 | 1227 | R>K | No | gnomAD | |
| TCGA novel | 1229 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs751652253 | 1229 | R>S | No |
ExAC TOPMed gnomAD |
|
|
rs1255328445 COSM3852361 |
1231 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic gnomAD |
| rs1746651570 | 1232 | S>F | No |
TOPMed gnomAD |
|
| TCGA novel | 1233 | L>C | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs759465759 | 1233 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs145664044 | 1234 | R>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV001668999 rs145664044 |
1234 | R>Q | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs767863522 | 1234 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs2152361581 | 1235 | M>I | No | Ensembl | |
| rs1326049633 | 1236 | E>A | No |
TOPMed gnomAD |
|
| rs1326049633 | 1236 | E>G | No |
TOPMed gnomAD |
|
| rs1746653120 | 1237 | K>T | No | Ensembl | |
| rs777680453 | 1239 | R>G | No |
ExAC gnomAD |
|
|
RCV002271670 RCV001779792 rs2152361600 |
1239 | R>K | No |
ClinVar Ensembl dbSNP |
|
| rs768135308 | 1244 | K>E | No | TOPMed | |
| rs1746655227 | 1246 | L>V | No | TOPMed | |
| COSM1063699 | 1247 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 1248 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs778354815 | 1249 | S>Y | No |
ExAC gnomAD |
|
| rs377220745 | 1250 | S>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs771516339 | 1251 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs1443100763 | 1252 | S>T | No | gnomAD | |
| rs886533520 | 1253 | N>S | No | TOPMed | |
| rs1304059147 | 1255 | S>A | No | gnomAD | |
| rs201215276 | 1255 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs969394458 | 1256 | S>G | No | gnomAD | |
| rs977578066 | 1256 | S>N | No | gnomAD | |
| rs771149297 | 1257 | K>R | No |
ExAC gnomAD |
|
| rs1746670604 | 1258 | S>T | No |
TOPMed gnomAD |
|
| rs774952720 | 1259 | L>H | No | ExAC | |
| rs772327666 | 1262 | D>E | No | ExAC | |
| rs1188366783 | 1262 | D>G | No | TOPMed | |
| rs1746672004 | 1262 | D>N | No | Ensembl | |
| rs1188366783 | 1262 | D>V | No | TOPMed | |
| rs775698231 | 1263 | I>F | No |
ExAC gnomAD |
|
| rs761047512 | 1263 | I>T | No | ExAC | |
| rs775698231 | 1263 | I>V | No |
ExAC gnomAD |
|
| rs764417636 | 1264 | I>F | No |
ExAC gnomAD |
|
| rs764417636 | 1264 | I>L | No |
ExAC gnomAD |
|
| rs1579504958 | 1265 | P>A | No | Ensembl | |
| rs1746674430 | 1267 | S>G | No | Ensembl | |
| rs1451621383 | 1267 | S>T | No | gnomAD | |
| rs761692707 | 1268 | I>S | No |
ExAC TOPMed gnomAD |
|
| rs1746674920 | 1268 | I>V | No | TOPMed | |
|
rs1746675692 RCV001268451 |
1269 | P>missing | No |
ClinVar dbSNP |
|
| rs151049431 | 1269 | P>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs151049431 | 1269 | P>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1031853907 | 1269 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| rs1746676538 | 1270 | G>D | No | Ensembl | |
| COSM1063700 | 1271 | S>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1438335608 | 1273 | V>M | No | TOPMed | |
| COSM1063701 | 1276 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs956438598 | 1276 | R>Q | No | TOPMed | |
| rs777888578 | 1280 | H>R | No | gnomAD | |
| rs1356931026 | 1280 | H>Y | No | gnomAD | |
| rs373162656 | 1281 | E>G | No |
ESP ExAC TOPMed gnomAD |
|
| COSM1310811 | 1285 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1237610546 | 1287 | R>G | No |
TOPMed gnomAD |
|
| rs917572077 | 1287 | R>Q | No | Ensembl | |
| rs1237610546 | 1287 | R>W | No |
TOPMed gnomAD |
|
| rs751071022 | 1290 | A>S | No |
ExAC gnomAD |
|
| rs751071022 | 1290 | A>T | No |
ExAC gnomAD |
|
|
RCV001765891 rs1255705093 |
1291 | R>C | No |
ClinVar dbSNP gnomAD |
|
| TCGA novel | 1291 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1746681452 | 1291 | R>L | No | gnomAD | |
| rs1486745845 | 1293 | K>I | No | gnomAD | |
| rs1746762655 | 1298 | A>S | No | TOPMed | |
| rs1167626123 | 1300 | L>V | No | gnomAD | |
| rs1225438572 | 1301 | I>L | No | TOPMed | |
| rs1326101425 | 1301 | I>M | No |
TOPMed gnomAD |
|
| rs1746764192 | 1301 | I>T | No | Ensembl | |
| rs368226960 | 1307 | Y>* | No |
ESP ExAC TOPMed gnomAD |
|
| rs1309123516 | 1309 | R>T | No | gnomAD | |
| rs1579507506 | 1310 | D>A | No | Ensembl | |
| rs1366279708 | 1311 | L>V | No |
TOPMed gnomAD |
|
| rs1301844875 | 1312 | R>Q | No |
TOPMed gnomAD |
|
| rs372065440 | 1312 | R>W | No |
ESP ExAC gnomAD |
|
| rs1235421696 | 1315 | M>I | No | gnomAD | |
| rs1373713920 | 1315 | M>T | No |
TOPMed gnomAD |
|
|
rs752164149 COSM1063702 |
1317 | T>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
|
COSM1434853 rs1746837695 |
1317 | T>A | large_intestine [Cosmic] | No |
cosmic curated Ensembl |
| rs56051871 | 1317 | T>K | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM18260 rs56051871 |
1317 | T>M | large_intestine skin [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
| rs1746839215 | 1321 | E>K | No | Ensembl | |
| rs1746839479 | 1322 | M>K | No |
TOPMed gnomAD |
|
| rs1746839479 | 1322 | M>T | No |
TOPMed gnomAD |
|
| rs1433294246 | 1323 | T>S | No | gnomAD | |
| rs1289689951 | 1324 | S>G | No | gnomAD | |
|
COSM3852363 rs1746840636 |
1326 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs1746841449 | 1327 | E>G | No | Ensembl | |
| rs1413013050 | 1327 | E>K | No | gnomAD | |
| COSM420852 | 1328 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs939763283 | 1330 | P>Q | No | TOPMed | |
| TCGA novel | 1330 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001356411 rs866249802 |
1331 | P>S | No |
ClinVar TOPMed dbSNP gnomAD |
|
|
COSM3409964 rs770762103 |
1333 | I>V | Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
| rs1746843565 | 1334 | V>I | No | gnomAD | |
| rs1256376026 | 1336 | K>N | No | gnomAD | |
| rs1746844351 | 1338 | L>F | No |
TOPMed gnomAD |
|
| rs1746844606 | 1339 | I>V | No | TOPMed | |
| rs1484452911 | 1340 | I>T | No | gnomAD | |
| COSM1063703 | 1342 | G>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1746846230 | 1342 | G>V | No | Ensembl | |
| rs1469154563 | 1344 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs2152363196 | 1344 | M>T | No | Ensembl | |
| rs1746846840 | 1345 | Q>* | No | gnomAD | |
| rs2152363203 | 1345 | Q>L | No | Ensembl | |
|
rs1746847394 RCV001200470 |
1346 | E>D | No |
ClinVar Ensembl dbSNP |
|
| rs1158543747 | 1347 | I>V | No | gnomAD | |
|
RCV001586375 rs1160204718 |
1349 | E>K | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1160204718 | 1349 | E>Q | No |
TOPMed gnomAD |
|
| rs763659125 | 1350 | F>L | No |
ExAC TOPMed gnomAD |
|
| rs1267010781 | 1353 | N>Y | No |
TOPMed gnomAD |
|
| rs1456582788 | 1354 | I>M | No |
TOPMed gnomAD |
|
| rs771852812 | 1354 | I>V | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 1358 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1746937444 | 1359 | L>M | No | TOPMed | |
|
rs1445993986 RCV001762864 |
1361 | K>I | No |
ClinVar TOPMed dbSNP |
|
| VAR_069371 | 1368 | D>V | found in patient with severe intellectual disability; uncertain significance [UniProt] | No | UniProt |
| rs1034411530 | 1369 | V>I | No | Ensembl | |
|
RCV001665313 rs2152363798 |
1371 | H>R | No |
ClinVar Ensembl dbSNP |
|
| TCGA novel | 1372 | C>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1746943553 | 1373 | F>C | No | Ensembl | |
| rs79341256 | 1376 | W>L | No | Ensembl | |
|
rs79341256 RCV001294572 |
1376 | W>S | No |
ClinVar Ensembl dbSNP |
|
| rs2152364291 | 1378 | D>A | No | Ensembl | |
| rs1462998768 | 1378 | D>Y | No | gnomAD | |
| TCGA novel | 1379 | K>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1163765517 | 1381 | Q>R | No |
TOPMed gnomAD |
|
|
RCV001769366 rs372498676 |
1382 | M>I | No |
ClinVar ESP ExAC dbSNP gnomAD |
|
| rs1747029047 | 1382 | M>T | No | TOPMed | |
| TCGA novel | 1384 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs762642572 | 1394 | T>A | No |
ExAC gnomAD |
|
| TCGA novel | 1394 | T>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1395 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs772377862 | 1396 | L>M | No |
ExAC gnomAD |
|
| rs1579513850 | 1400 | H>D | No | Ensembl | |
| rs1235720731 | 1400 | H>R | No | gnomAD | |
| rs1579513850 | 1400 | H>Y | No | Ensembl | |
|
RCV002276302 rs2152364327 |
1401 | A>S | No |
ClinVar Ensembl dbSNP |
|
| rs775917864 | 1403 | S>F | No |
ExAC gnomAD |
|
|
rs2152364335 RCV001814935 |
1405 | F>S | No |
ClinVar Ensembl dbSNP |
|
| rs1747345681 | 1409 | Q>E | No |
TOPMed gnomAD |
|
| rs1380725872 | 1409 | Q>H | No |
TOPMed gnomAD |
|
| rs1747345681 | 1409 | Q>K | No |
TOPMed gnomAD |
|
| rs1171388235 | 1410 | Q>H | No | gnomAD | |
| rs1446517702 | 1410 | Q>K | No |
TOPMed gnomAD |
|
| rs1453552751 | 1410 | Q>R | No | gnomAD | |
| rs1376853061 | 1411 | R>Q | No | gnomAD | |
| rs1747347414 | 1412 | H>P | No | TOPMed | |
| rs141536428 | 1415 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs1747348436 | 1415 | A>V | No |
TOPMed gnomAD |
|
| rs1393674842 | 1416 | N>S | No | gnomAD | |
| rs765316023 | 1418 | I>M | No |
ExAC gnomAD |
|
| rs1312054348 | 1418 | I>T | No | gnomAD | |
|
rs1390231561 RCV000901597 |
1418 | I>V | No |
ClinVar dbSNP gnomAD |
|
|
rs1747350463 RCV001321867 |
1423 | I>F | No |
ClinVar Ensembl dbSNP |
|
|
rs1747351128 RCV001311641 |
1428 | R>* | No |
ClinVar Ensembl dbSNP |
|
| TCGA novel | 1431 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1437 | K>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
| rs756064813 | 1439 | L>M | No |
ExAC gnomAD |
|
|
COSM1063704 RCV001765187 rs763926725 |
1441 | T>M | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs2152371808 RCV001756953 |
1443 | C>Y | No |
ClinVar Ensembl dbSNP |
|
| rs1288545285 | 1447 | K>T | No |
TOPMed gnomAD |
|
| TCGA novel | 1450 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1360047628 | 1451 | K>* | No | gnomAD | |
| rs1401936177 | 1451 | K>R | No | gnomAD | |
| rs1278981126 | 1453 | G>D | No | gnomAD | |
| rs1747662599 | 1453 | G>S | No | Ensembl | |
| rs765680821 | 1459 | S>G | No |
ExAC TOPMed gnomAD |
|
| rs1747663772 | 1459 | S>N | No | Ensembl | |
| rs1031338685 | 1460 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs748670822 | 1463 | R>G | No |
ExAC gnomAD |
|
| rs373502206 | 1463 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs1315411534 | 1467 | A>G | No | TOPMed | |
| TCGA novel | 1471 | S>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1256246659 | 1472 | M>L | No |
TOPMed gnomAD |
|
| rs774720729 | 1474 | E>K | No |
ExAC gnomAD |
|
| rs1441444611 | 1475 | G>V | No | gnomAD | |
| rs746065357 | 1479 | N>I | No |
ExAC gnomAD |
|
| rs772463265 | 1480 | I>V | No |
ExAC gnomAD |
|
| rs776083725 | 1481 | E>A | No |
ExAC gnomAD |
|
| rs1302244780 | 1481 | E>Q | No | gnomAD | |
| rs1747840364 | 1482 | S>T | No | Ensembl | |
| rs1747840592 | 1483 | Q>R | No | Ensembl | |
| TCGA novel | 1488 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1436691374 | 1492 | F>I | No | gnomAD | |
|
RCV001757034 rs2152373752 |
1493 | Q>L | No |
ClinVar Ensembl dbSNP |
|
| rs1189151966 | 1494 | V>A | No | gnomAD | |
| TCGA novel | 1498 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM3776392 | 1500 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM1063705 | 1502 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs888023247 | 1502 | R>G | No | Ensembl | |
| COSM3827303 | 1502 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM1063706 rs1394849486 |
1507 | R>Q | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
|
rs2152373766 TCGA novel RCV002248912 |
1507 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar NCI-TCGA Ensembl dbSNP |
| rs1747843787 | 1511 | L>F | No | Ensembl | |
| rs1747844413 | 1514 | M>I | No | TOPMed | |
| rs942320175 | 1514 | M>V | No | Ensembl | |
| rs1459391903 | 1515 | S>A | No | gnomAD | |
| TCGA novel | 1515 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs761874352 | 1516 | L>F | No |
ExAC gnomAD |
|
| rs765000562 | 1517 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs765000562 | 1517 | V>L | No |
ExAC TOPMed gnomAD |
|
|
RCV002274430 rs2152373800 |
1518 | F>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 1521 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1561441777 | 1522 | V>M | No | gnomAD | |
| rs1747846331 | 1523 | K>R | No | TOPMed | |
| rs1747846731 | 1527 | G>A | No | Ensembl | |
| rs1036925874 | 1529 | S>N | No |
TOPMed gnomAD |
|
|
RCV001764038 rs2152373824 |
1531 | Y>C | No |
ClinVar Ensembl dbSNP |
|
| rs1329266250 | 1532 | L>F | No | gnomAD | |
|
rs1402288721 COSM449032 |
1533 | Y>H | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 1535 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1535 | S>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1447265432 | 1535 | S>T | No | gnomAD | |
| rs897968134 | 1536 | K>E | No | Ensembl | |
|
rs2152373843 RCV001769451 |
1536 | K>T | No |
ClinVar Ensembl dbSNP |
|
| TCGA novel | 1538 | F>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs780608673 | 1539 | T>I | No | gnomAD | |
| rs1748027004 | 1542 | L>V | No |
TOPMed gnomAD |
|
| COSM3852365 | 1545 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs929230316 | 1547 | H>L | No |
TOPMed gnomAD |
|
| rs929230316 | 1547 | H>R | No |
TOPMed gnomAD |
|
| rs1247614231 | 1548 | V>A | No |
TOPMed gnomAD |
|
| rs767231612 | 1548 | V>F | No |
ExAC gnomAD |
|
| rs775090467 | 1559 | V>A | No |
ExAC gnomAD |
|
| TCGA novel | 1565 | S>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM1063707 | 1568 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2152375511 | 1569 | I>T | No | Ensembl | |
| rs1748029795 | 1570 | V>A | No | Ensembl | |
| rs1214778988 | 1570 | V>F | No |
TOPMed gnomAD |
|
| rs1214778988 | 1570 | V>I | No |
TOPMed gnomAD |
|
| COSM3611897 | 1573 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1748661363 RCV001757036 |
1574 | S>F | No |
ClinVar TOPMed dbSNP |
|
| rs527512383 | 1575 | S>N | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs756378628 RCV001769210 |
1575 | S>R | No |
ClinVar ExAC dbSNP gnomAD |
|
| rs1748663041 | 1576 | I>M | No | Ensembl | |
| rs1748662818 | 1576 | I>T | No | TOPMed | |
|
COSM99028 rs200972870 |
1576 | I>V | stomach [Cosmic] | No |
cosmic curated 1000Genomes ExAC TOPMed gnomAD |
| TCGA novel | 1579 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1748663758 RCV001090986 |
1582 | W>* | No |
ClinVar TOPMed dbSNP |
|
| rs1466058224 | 1583 | I>K | No | gnomAD | |
| COSM1063708 | 1584 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs865814983 | 1585 | H>N | No | gnomAD | |
| TCGA novel | 1585 | H>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs865814983 | 1585 | H>Y | No | gnomAD | |
| rs1325412771 | 1586 | I>V | No | gnomAD | |
| rs1561451961 | 1587 | R>C | No | Ensembl | |
| rs753950455 | 1587 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 1588 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2152380324 | 1588 | E>K | No | Ensembl | |
| rs1333857941 | 1589 | V>F | No | gnomAD | |
| rs1333857941 | 1589 | V>I | No | gnomAD | |
| rs1561451989 | 1590 | I>V | No | Ensembl | |
| rs1579562278 | 1592 | E>D | No | Ensembl | |
|
RCV001224177 rs1404663085 |
1593 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar Ensembl NCI-TCGA dbSNP |
| rs778923312 | 1593 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs1748667690 | 1594 | T>M | No | TOPMed | |
| rs866698569 | 1596 | H>Q | No | Ensembl | |
| rs1257363066 | 1598 | K>R | No |
TOPMed gnomAD |
|
| rs765425921 | 1602 | K>Q | No | Ensembl | |
| rs746634561 | 1603 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs368358934 | 1603 | E>Q | No |
ESP ExAC TOPMed gnomAD |
|
| COSM1063709 | 1604 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs868052719 | 1606 | H>N | No | TOPMed | |
| rs868052719 | 1606 | H>Y | No | TOPMed | |
| rs1238605443 | 1607 | I>F | No | gnomAD | |
| rs1467847680 | 1607 | I>M | No |
TOPMed gnomAD |
|
| rs1238605443 | 1607 | I>V | No | gnomAD | |
| rs768460425 | 1608 | P>R | No |
ExAC gnomAD |
|
| rs77243955 | 1610 | T>P | No | gnomAD | |
| rs771279874 | 1611 | A>S | No |
ExAC TOPMed gnomAD |
|
|
rs771279874 RCV001773837 |
1611 | A>T | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs371141413 | 1611 | A>V | No |
ESP ExAC gnomAD |
|
| rs753101783 | 1612 | P>H | No |
ExAC gnomAD |
|
| rs886351752 | 1612 | P>S | No |
TOPMed gnomAD |
|
| rs16903474 | 1613 | A>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000972732 rs16903474 VAR_059803 |
1613 | A>T | No |
ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1748677783 | 1614 | T>A | No | TOPMed | |
| rs1748677783 | 1614 | T>S | No | TOPMed | |
| rs1748678233 | 1616 | Q>H | No | gnomAD | |
| rs1579562633 | 1617 | K>R | No | Ensembl | |
| rs757362316 | 1618 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs751338228 | 1621 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs1412249861 | 1621 | D>N | No |
TOPMed gnomAD |
|
| rs751338228 | 1621 | D>V | No |
ExAC gnomAD |
|
| rs1412249861 | 1621 | D>Y | No |
TOPMed gnomAD |
|
| rs754819062 | 1622 | G>R | No |
ExAC gnomAD |
|
| rs2152380841 | 1622 | G>V | No | Ensembl | |
| rs1416475027 | 1623 | E>D | No | gnomAD | |
|
RCV001756851 rs2152380846 |
1625 | L>P | No |
ClinVar Ensembl dbSNP |
|
| rs1445568217 | 1630 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
|
COSM5918838 rs1266639450 |
1631 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs1748741954 | 1635 | P>L | No | gnomAD | |
| rs755765988 | 1637 | T>K | No |
ExAC TOPMed gnomAD |
|
| rs755765988 | 1637 | T>M | No |
ExAC TOPMed gnomAD |
|
| rs373049743 | 1638 | I>V | No |
ESP ExAC gnomAD |
|
| rs147339578 | 1640 | I>M | No |
ESP ExAC TOPMed gnomAD |
|
|
rs2152380871 RCV002244411 |
1640 | I>V | No |
ClinVar Ensembl dbSNP |
|
| rs775980433 | 1641 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs1239079174 | 1643 | R>G | No |
TOPMed gnomAD |
|
| rs1016306493 | 1643 | R>Q | No | Ensembl | |
|
COSM1195899 rs1239079174 |
1643 | R>W | lung [Cosmic] | No |
cosmic curated TOPMed gnomAD |
|
rs55687522 VAR_041900 RCV002211015 COSM1063710 |
1644 | T>M | endometrium [Cosmic] | No |
cosmic curated ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
| rs1748744983 | 1646 | Q>E | No | Ensembl | |
| rs1748745211 | 1646 | Q>R | No | gnomAD | |
| rs1240418711 | 1648 | T>M | No |
TOPMed gnomAD |
|
| rs1440179550 | 1650 | D>G | No | gnomAD | |
| rs1208672776 | 1651 | S>N | No | gnomAD | |
| rs1164262930 | 1652 | D>E | No | gnomAD | |
| rs765405800 | 1652 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs1749960611 | 1657 | G>S | No | TOPMed | |
| rs1749960848 | 1658 | C>F | No | TOPMed | |
| rs911915894 | 1661 | T>A | No |
TOPMed gnomAD |
|
| rs1221017035 | 1662 | V>E | No | TOPMed | |
| rs1749961528 | 1662 | V>L | No | gnomAD | |
| rs1749962474 | 1665 | H>D | No |
TOPMed gnomAD |
|
| rs977407455 | 1665 | H>R | No | Ensembl | |
| rs1749962897 | 1666 | D>N | No | Ensembl | |
| rs1340086164 | 1668 | T>A | No | Ensembl | |
| rs1274992482 | 1669 | A>T | No | gnomAD | |
| rs1218616446 | 1671 | N>H | No | gnomAD | |
| COSM73068 | 1671 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1367579543 | 1671 | N>S | No | TOPMed | |
| rs1218616446 | 1671 | N>Y | No | gnomAD | |
| rs1320480206 | 1672 | S>R | No |
TOPMed gnomAD |
|
| TCGA novel | 1673 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1196692026 | 1673 | N>S | No | gnomAD | |
| rs756952464 | 1674 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs1224011067 | 1676 | T>A | No | gnomAD | |
|
rs749963113 COSM3852367 |
1678 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| rs936180723 | 1678 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs755460231 | 1679 | R>P | No |
ExAC TOPMed gnomAD |
|
|
COSM3393307 rs755460231 |
1679 | R>Q | pancreas [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
|
rs1281217104 RCV003152094 |
1679 | R>W | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs149901641 | 1683 | V>M | No |
ESP TOPMed gnomAD |
|
| rs778333314 | 1685 | V>F | No |
ExAC gnomAD |
|
| rs778333314 | 1685 | V>I | No |
ExAC gnomAD |
|
| rs749494831 | 1686 | L>M | No |
ExAC gnomAD |
|
| rs774524324 | 1688 | R>Q | No |
ExAC gnomAD |
|
| rs771313562 | 1688 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs759701866 | 1689 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
|
VAR_041901 rs56292586 |
1690 | H>R | No |
UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1749970757 | 1691 | D>N | No | gnomAD | |
| rs374111666 | 1695 | W>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs763773654 | 1696 | C>R | No |
ExAC gnomAD |
|
| rs1229225071 | 1696 | C>Y | No |
TOPMed gnomAD |
|
| rs1230266015 | 1697 | L>V | No |
TOPMed gnomAD |
|
|
TCGA novel rs1749972724 |
1699 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs753673776 | 1699 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs1488008567 | 1700 | T>A | No |
TOPMed gnomAD |
|
| rs749873262 | 1701 | T>I | No |
ExAC gnomAD |
|
|
rs143962916 COSM376831 |
1703 | R>C | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
| rs372237041 | 1703 | R>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs143962916 | 1703 | R>S | No |
1000Genomes ExAC gnomAD |
|
| rs1749974660 | 1706 | A>S | No | TOPMed | |
| rs753125237 | 1706 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs778247459 | 1707 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs1749975855 | 1708 | E>K | No | Ensembl | |
| rs1749976647 | 1709 | G>C | No | TOPMed | |
|
rs1749977574 COSM305604 |
1712 | P>L | central_nervous_system [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs1385014214 | 1712 | P>S | No |
TOPMed gnomAD |
|
| rs1385014214 | 1712 | P>T | No |
TOPMed gnomAD |
|
| rs1383320728 | 1713 | C>Y | No | gnomAD | |
| rs1339113561 | 1714 | G>S | No | gnomAD | |
| rs1305138600 | 1715 | S>P | No |
TOPMed gnomAD |
|
| rs1749979425 | 1717 | C>G | No | Ensembl | |
| rs757498072 | 1717 | C>Y | No |
ExAC gnomAD |
|
| rs746170840 | 1719 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs746170840 | 1719 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs888944222 | 1720 | H>Y | No | Ensembl | |
| rs1749981280 | 1722 | R>G | No | gnomAD | |
| rs1749981553 | 1723 | S>G | No | TOPMed | |
| rs2152389554 | 1727 | M>V | No | Ensembl | |
| rs1288296616 | 1729 | G>D | No | gnomAD | |
| rs1749982453 | 1730 | I>V | No | Ensembl | |
| rs1749982662 | 1732 | N>T | No | TOPMed | |
| rs2152389573 | 1733 | H>P | No | Ensembl | |
| rs368342075 | 1733 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs1163580196 | 1734 | K>R | No | TOPMed | |
|
RCV001590549 rs2126496013 |
1735 | D>E | No |
ClinVar Ensembl dbSNP |
|
|
rs557007717 COSM1434857 |
1736 | S>L | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated TOPMed |
| rs773680695 | 1736 | S>P | No |
ExAC gnomAD |
|
| rs557007717 | 1736 | S>W | No | TOPMed | |
| rs2126496085 | 1737 | L>F | No | Ensembl | |
| rs1224074421 | 1738 | S>C | No |
TOPMed gnomAD |
|
| rs1315846530 | 1739 | V>I | No | gnomAD | |
| rs1372819532 | 1740 | S>F | No | Ensembl | |
|
rs1206287803 RCV001820493 |
1741 | S>G | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1251663747 | 1741 | S>N | No | gnomAD | |
| rs762460319 | 1742 | N>S | No |
ExAC TOPMed gnomAD |
|
|
RCV001770977 rs757662406 |
1743 | D>E | No |
TOPMed gnomAD ClinVar dbSNP |
|
| rs1268899674 | 1743 | D>G | No |
TOPMed gnomAD |
|
| rs1207662910 | 1743 | D>N | No | gnomAD | |
| rs1421941634 | 1744 | A>T | No |
TOPMed gnomAD |
|
| TCGA novel | 1745 | S>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1053063993 | 1747 | P>T | No | TOPMed | |
| rs1173060432 | 1748 | A>P | No |
TOPMed gnomAD |
|
| rs1173060432 | 1748 | A>S | No |
TOPMed gnomAD |
|
|
RCV001280731 rs1753753122 |
1748 | A>V | No |
ClinVar TOPMed dbSNP |
|
|
TCGA novel rs1291954783 |
1750 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1291954783 | 1750 | V>M | No |
TOPMed gnomAD |
|
| rs374250319 | 1751 | A>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs542199264 | 1752 | S>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1338416960 | 1753 | L>F | No |
TOPMed gnomAD |
|
| rs1320863306 | 1755 | P>S | No |
TOPMed gnomAD |
|
| rs1320863306 | 1755 | P>T | No |
TOPMed gnomAD |
|
| rs1242183653 | 1756 | H>Y | No | gnomAD | |
| rs748049747 | 1757 | M>I | No |
ExAC gnomAD |
|
| rs1293441157 | 1757 | M>V | No | gnomAD | |
| rs1286894031 | 1758 | I>V | No | TOPMed | |
| rs1753759232 | 1759 | G>A | No | TOPMed | |
| rs769756833 | 1759 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD NCI-TCGA |
| rs1373643972 | 1760 | A>T | No |
TOPMed gnomAD |
|
|
RCV001822041 rs1753760161 |
1760 | A>V | No |
ClinVar TOPMed dbSNP |
|
| rs1753761012 | 1761 | Q>H | No | TOPMed | |
| rs1260389697 | 1761 | Q>R | No | gnomAD | |
| rs2126496893 | 1763 | S>L | No | Ensembl | |
| rs1753761692 | 1764 | P>L | No | TOPMed | |
|
rs1753762422 RCV001211138 |
1766 | P>R | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs974007643 | 1767 | K>R | No |
TOPMed gnomAD |
|
| rs1753763077 | 1768 | R>Q | No | Ensembl | |
| rs919874730 | 1769 | P>S | No |
TOPMed gnomAD |
|
| rs1423561500 | 1774 | R>C | No | gnomAD | |
| rs1753765280 | 1774 | R>L | No | Ensembl | |
|
rs1753765280 RCV002265459 |
1774 | R>P | No |
ClinVar Ensembl dbSNP |
|
| rs1753765889 | 1775 | K>Q | No | TOPMed | |
|
RCV001577229 rs1387254331 |
1775 | K>R | No |
ClinVar TOPMed dbSNP gnomAD |
|
|
rs1561518112 RCV000760600 |
1776 | W>* | No |
ClinVar Ensembl dbSNP |
|
| rs1358672246 | 1778 | T>I | No |
TOPMed gnomAD |
|
| rs1158198749 | 1778 | T>P | No | gnomAD | |
| rs1358672246 | 1778 | T>S | No |
TOPMed gnomAD |
|
| rs1487542998 | 1781 | V>M | No |
TOPMed gnomAD |
|
| rs1393999161 | 1782 | R>W | No | gnomAD | |
| rs1316730953 | 1783 | R>W | No | gnomAD | |
| rs1238969830 | 1784 | L>F | No | gnomAD | |
| rs372071741 | 1787 | G>C | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM1230437 rs372071741 |
1787 | G>S | large_intestine [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
| rs1337630405 | 1788 | K>E | No | TOPMed | |
| rs1238803932 | 1789 | A>G | No | TOPMed | |
| rs1005748704 | 1789 | A>T | No |
TOPMed gnomAD |
|
| rs762368269 | 1790 | D>E | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 1790 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001171840 rs1753772282 |
1790 | D>N | No |
ClinVar Ensembl dbSNP |
|
|
RCV001532035 rs746360543 |
1793 | V>L | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1452357416 | 1794 | K>R | No |
TOPMed gnomAD |
|
| rs755240047 | 1797 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1753775449 | 1798 | H>Y | No | TOPMed | |
| rs1753775839 | 1800 | H>Q | No | TOPMed | |
| rs1753776276 | 1801 | K>N | No |
TOPMed gnomAD |
|
|
COSM590394 rs781211254 |
1801 | K>R | lung [Cosmic] | No |
cosmic curated ExAC gnomAD |
| rs1365388352 | 1803 | S>G | No | gnomAD | |
| rs1753777265 | 1805 | E>D | No | Ensembl | |
| rs1579724092 | 1806 | V>I | No | gnomAD | |
| rs200080176 | 1807 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs200080176 | 1807 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs200080176 | 1807 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs1753779100 | 1808 | K>R | No | Ensembl | |
| rs375051424 | 1809 | S>G | No |
ESP TOPMed gnomAD |
|
| rs996619808 | 1809 | S>T | No |
TOPMed gnomAD |
|
| rs368043617 | 1810 | A>T | No |
ESP TOPMed gnomAD |
|
| rs1202301270 | 1810 | A>V | No |
TOPMed gnomAD |
|
| rs1753780917 | 1811 | D>E | No | gnomAD | |
| TCGA novel | 1811 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1486397259 | 1811 | D>N | No |
TOPMed gnomAD |
|
| rs770747129 | 1812 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs1753781299 | 1812 | A>V | No | gnomAD | |
| rs867350427 | 1813 | G>D | No | Ensembl | |
| rs1025988315 | 1813 | G>S | No |
TOPMed gnomAD |
|
| rs867350427 | 1813 | G>V | No | Ensembl | |
| rs2278692 | 1817 | D>E | No | TOPMed | |
| rs1753783186 | 1818 | S>Y | No | TOPMed | |
| rs1753783570 | 1819 | D>N | No | gnomAD | |
| rs1178441230 | 1821 | S>G | No | gnomAD | |
| rs1753784150 | 1821 | S>N | No | gnomAD | |
| rs1020387949 | 1822 | A>G | No | Ensembl | |
|
rs1464849957 COSM400640 |
1825 | P>L | lung [Cosmic] | No |
cosmic curated gnomAD |
| rs1753785338 | 1826 | Q>E | No | TOPMed | |
| rs546441900 | 1826 | Q>H | No | 1000Genomes | |
| rs1273776886 | 1829 | T>A | No | gnomAD | |
| rs760274582 | 1829 | T>K | No |
ExAC gnomAD |
|
| rs760274582 | 1829 | T>M | No |
ExAC gnomAD |
|
| rs2126498567 | 1830 | V>F | No | Ensembl | |
| rs1579724523 | 1830 | V>G | No | Ensembl | |
| rs1222242178 | 1831 | E>* | No | gnomAD | |
| rs1753787660 | 1831 | E>D | No |
TOPMed gnomAD |
|
| rs1222242178 | 1831 | E>K | No | gnomAD | |
| TCGA novel | 1833 | R>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
| rs775676229 | 1834 | G>S | No |
ExAC gnomAD |
|
| rs1431858701 | 1835 | R>Q | No |
TOPMed gnomAD |
|
| rs1033002168 | 1835 | R>W | No |
TOPMed gnomAD |
|
| rs1213389210 | 1836 | N>Y | No |
TOPMed gnomAD |
|
| rs1753925789 | 1837 | E>K | No | TOPMed | |
| rs1753925973 | 1838 | G>V | No | TOPMed | |
| rs1292652060 | 1841 | S>R | No |
TOPMed gnomAD |
|
| rs866973003 | 1844 | L>F | No | Ensembl | |
|
rs1013435822 COSM4817742 |
1850 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed |
|
RCV001532036 rs2126507060 |
1850 | S>missing | No |
ClinVar dbSNP |
|
| rs1013435822 | 1850 | S>W | No | TOPMed | |
| COSM3611910 | 1851 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV001800108 rs2126507141 |
1851 | G>R | No |
ClinVar Ensembl dbSNP |
|
| COSM6102470 | 1851 | G>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 1853 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM3852370 | 1860 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM3611911 | 1860 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1753929684 | 1862 | E>D | No | TOPMed | |
| TCGA novel | 1864 | A>P | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV002253141 rs758263284 |
1864 | A>S | No |
ClinVar ExAC dbSNP gnomAD |
|
| rs758263284 | 1864 | A>T | No |
ExAC gnomAD |
|
| rs141266137 | 1864 | A>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs2126507345 | 1865 | D>A | No | Ensembl | |
| rs1753930790 | 1865 | D>N | No | Ensembl | |
| rs373008762 | 1866 | A>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs373008762 | 1866 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs1753931890 | 1867 | V>E | No | TOPMed | |
| rs774835487 | 1867 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| COSM2156630 | 1870 | P>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM3661559 rs1454798337 |
1870 | P>L | liver [Cosmic] | No |
cosmic curated gnomAD |
| rs1753933885 | 1874 | A>T | No | gnomAD | |
| rs1335255649 | 1874 | A>V | No | gnomAD | |
| rs1262558633 | 1876 | Q>* | No | gnomAD | |
|
RCV001757011 rs2126507617 |
1878 | H>Y | No |
ClinVar Ensembl dbSNP |
|
| TCGA novel | 1879 | S>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs760914653 | 1880 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs760914653 | 1880 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs1462449676 | 1881 | L>I | No | gnomAD | |
| rs1222498491 | 1882 | Q>H | No | gnomAD | |
| rs1203938489 | 1882 | Q>K | No | gnomAD | |
| TCGA novel | 1887 | D>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs776711607 | 1887 | D>V | No |
ExAC gnomAD |
|
| rs1753937829 | 1887 | D>Y | No | TOPMed | |
| rs761799560 | 1889 | K>M | No |
ExAC TOPMed gnomAD |
|
| rs761799560 | 1889 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs147906245 | 1890 | A>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
RCV001650757 rs138840811 |
1891 | S>P | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1251458322 | 1892 | S>C | No | gnomAD | |
| TCGA novel | 1892 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1222550687 | 1893 | R>Q | No |
TOPMed gnomAD |
|
| rs576819283 | 1893 | R>W | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1579737226 | 1896 | V>A | No | Ensembl | |
| rs752274649 | 1897 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs755807866 | 1897 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs755807866 | 1897 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs1490996101 | 1898 | P>H | No | gnomAD | |
| rs1200758855 | 1899 | T>S | No |
TOPMed gnomAD |
|
|
RCV001555197 rs1754193473 |
1900 | S>I | No |
ClinVar TOPMed dbSNP |
|
| rs1754193695 | 1901 | S>T | No | Ensembl | |
| rs1754193888 | 1901 | S>Y | No | TOPMed | |
| rs1427068563 | 1902 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1754194474 | 1903 | T>I | No | gnomAD | |
| rs780426892 | 1904 | P>L | No |
ExAC TOPMed gnomAD |
|
| COSM3919232 | 1904 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1754195225 | 1905 | S>R | No | Ensembl | |
| rs781657366 | 1908 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs773375329 | 1910 | V>I | No |
ExAC TOPMed gnomAD |
|
|
rs2126523052 RCV002224624 |
1911 | S>N | No |
ClinVar Ensembl dbSNP |
|
| COSM1434860 | 1913 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1174403108 | 1917 | V>L | No |
TOPMed gnomAD |
|
| rs1174403108 | 1917 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1242039162 | 1918 | K>E | No |
TOPMed gnomAD |
|
| rs774142817 | 1919 | S>N | No |
ExAC TOPMed gnomAD |
|
| rs1754198554 | 1920 | K>R | No | TOPMed | |
| rs760465543 | 1923 | L>P | No |
ExAC gnomAD |
|
| rs1176759682 | 1924 | E>G | No |
TOPMed gnomAD |
|
| rs1176759682 | 1924 | E>V | No |
TOPMed gnomAD |
|
| rs1316646160 | 1925 | D>Y | No | Ensembl | |
|
COSM1695465 rs1006559556 |
1926 | R>C | skin [Cosmic] | No |
cosmic curated gnomAD |
|
rs375877998 RCV001768901 COSM1230440 |
1926 | R>H | large_intestine [Cosmic] | No |
cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
| rs1405123547 | 1927 | P>L | No | gnomAD | |
| rs1754668423 | 1927 | P>S | No | TOPMed | |
| rs764621228 | 1928 | S>N | No |
ExAC gnomAD |
|
| rs1338309662 | 1930 | L>F | No |
TOPMed gnomAD |
|
| rs1338309662 | 1930 | L>V | No |
TOPMed gnomAD |
|
| rs2126550841 | 1931 | L>F | No | Ensembl | |
| rs749979050 | 1931 | L>P | No |
ExAC TOPMed gnomAD |
|
| rs749979050 | 1931 | L>R | No |
ExAC TOPMed gnomAD |
|
| rs755389822 | 1932 | V>A | No |
ExAC gnomAD |
|
|
RCV001794831 rs768080581 |
1934 | Q>R | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1754670939 | 1936 | D>G | No | gnomAD | |
| rs1754670749 | 1936 | D>H | No | gnomAD | |
| rs1226007267 | 1937 | S>G | No | gnomAD | |
| rs528546190 | 1939 | S>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs201630329 | 1943 | N>D | No |
1000Genomes gnomAD |
|
| rs745976496 | 1943 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs2126551145 | 1944 | P>H | No | Ensembl | |
|
COSM1063715 rs771840207 |
1945 | S>L | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs1250600493 | 1946 | D>G | No | gnomAD | |
| rs1202218968 | 1946 | D>H | No | gnomAD | |
| rs1202218968 | 1946 | D>Y | No | gnomAD | |
| rs1754674183 | 1947 | N>K | No |
TOPMed gnomAD |
|
| rs1483531322 | 1949 | L>F | No | gnomAD | |
| COSM1063716 | 1950 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1225859273 | 1951 | S>C | No | TOPMed | |
| rs1754675384 | 1952 | S>F | No | gnomAD | |
| TCGA novel | 1953 | S>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs866567869 | 1954 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs1479408104 | 1955 | P>S | No | gnomAD | |
| rs1754677308 | 1956 | I>T | No | TOPMed | |
| rs1425578563 | 1956 | I>V | No | gnomAD | |
| COSM3611912 | 1958 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV002265458 rs1754678323 |
1959 | M>T | No |
ClinVar TOPMed dbSNP |
|
| rs761331509 | 1959 | M>V | No |
ExAC gnomAD |
|
| rs1026091842 | 1960 | E>K | No |
TOPMed gnomAD |
|
| rs1754678961 | 1961 | E>G | No | Ensembl | |
| rs1754679156 | 1964 | S>F | No |
TOPMed gnomAD |
|
| rs769509085 | 1965 | S>N | No |
ExAC TOPMed gnomAD |
|
| rs769509085 | 1965 | S>T | No |
ExAC TOPMed gnomAD |
|
| COSM3994087 | 1966 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs956541028 | 1966 | S>P | No | Ensembl | |
| rs772538034 | 1966 | S>Y | No |
ExAC gnomAD |
|
| rs1219649882 | 1967 | L>S | No | TOPMed | |
| rs991969714 | 1968 | K>E | No | gnomAD | |
| rs1327761288 | 1969 | R>G | No |
TOPMed gnomAD |
|
| rs1345508748 | 1969 | R>K | No |
TOPMed gnomAD |
|
| rs1345508748 | 1969 | R>T | No |
TOPMed gnomAD |
|
| rs2126551775 | 1970 | R>I | No | Ensembl | |
| rs1754681209 | 1971 | H>R | No | Ensembl | |
| rs1754770177 | 1972 | Y>C | No | TOPMed | |
| rs1391228082 | 1973 | V>I | No | gnomAD | |
| rs952144832 | 1976 | E>Q | No |
TOPMed gnomAD |
|
| VAR_041902 | 1978 | V>M | a metastatic melanoma sample; somatic mutation [UniProt] | No | UniProt |
| rs1754771087 | 1979 | E>K | No | gnomAD | |
| rs758584601 | 1982 | R>C | No |
ExAC gnomAD |
|
| rs1349917608 | 1986 | R>Q | No |
TOPMed gnomAD |
|
|
COSM5506177 rs1754772193 |
1986 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs1221237278 | 1987 | D>E | No | TOPMed | |
| rs1754772776 | 1987 | D>N | No | TOPMed | |
| rs754850989 | 1990 | Y>C | No |
ExAC TOPMed gnomAD |
|
| COSM449034 | 1991 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1349779209 | 1992 | V>A | No | TOPMed | |
| rs1754774017 | 1992 | V>I | No |
TOPMed gnomAD |
|
|
rs2126558718 COSM420851 |
1993 | E>K | Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs1199220345 | 1994 | G>C | No | Ensembl | |
| rs1414909559 | 1995 | Y>C | No | gnomAD | |
| rs1754866519 | 1996 | M>I | No | gnomAD | |
| rs777577295 | 1996 | M>V | No |
ExAC gnomAD |
|
| rs114451941 | 1997 | A>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs756908340 | 1998 | L>F | No |
ExAC gnomAD |
|
|
rs921799828 COSM3611913 |
1999 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs778707112 | 1999 | M>T | No |
ExAC gnomAD |
|
| rs1395873098 | 2000 | K>Q | No | gnomAD | |
| rs1430200282 | 2002 | D>G | No | gnomAD | |
| rs1389690285 | 2003 | G>S | No | gnomAD | |
| rs1351103922 | 2007 | D>N | No | gnomAD | |
| rs1754868605 | 2008 | M>V | No | TOPMed | |
| rs1754868818 | 2010 | G>E | No | TOPMed | |
| rs1404226075 | 2012 | D>N | No | gnomAD | |
| rs771683628 | 2013 | K>R | No |
ExAC gnomAD |
|
| rs1474782626 | 2014 | I>T | No | TOPMed | |
| rs748644291 | 2017 | G>C | No |
ExAC TOPMed gnomAD |
|
| rs748644291 | 2017 | G>S | No |
ExAC TOPMed gnomAD |
|
| rs564617134 | 2020 | H>R | No |
1000Genomes ExAC gnomAD |
|
| rs1337027272 | 2021 | Q>R | No | gnomAD | |
| rs1561532250 | 2022 | I>V | No | Ensembl | |
|
RCV001242328 rs1754871642 |
2024 | D>E | No |
ClinVar Ensembl dbSNP |
|
| rs935800102 | 2024 | D>N | No |
TOPMed gnomAD |
|
| COSM6102469 | 2025 | W>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs763311887 | 2027 | R>K | No |
ExAC gnomAD |
|
| rs371806945 | 2028 | D>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs766795150 | 2028 | D>N | No |
ExAC gnomAD |
|
| rs1267253933 | 2028 | D>V | No | gnomAD | |
|
rs752676391 COSM1241852 |
2031 | L>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
| rs779577841 | 2031 | L>F | No |
ExAC gnomAD |
|
| rs1755120107 | 2033 | E>A | No | Ensembl | |
| rs1382445656 | 2033 | E>K | No | gnomAD | |
| TCGA novel | 2035 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1462442547 | 2036 | K>N | No |
TOPMed gnomAD |
|
| rs143747764 | 2036 | K>R | No |
ESP ExAC TOPMed gnomAD |
|
|
rs374834393 RCV001587153 |
2039 | E>D | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| COSM285965 | 2044 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs779192709 | 2046 | S>F | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 2048 | F>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV002265425 rs1222922516 |
2049 | V>L | No |
ClinVar TOPMed dbSNP gnomAD |
|
|
rs746238974 COSM482270 |
2051 | H>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
|
CA359233654 rs1554086647 RCV000594700 |
2053 | R>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs1755337514 | 2053 | R>K | No | Ensembl | |
| rs780511129 | 2054 | R>K | No |
ExAC TOPMed gnomAD |
|
| rs1473531448 | 2054 | R>S | No | gnomAD | |
| rs780511129 | 2054 | R>T | No |
ExAC TOPMed gnomAD |
|
| rs1248677850 | 2055 | L>S | No | TOPMed | |
| rs1159689033 | 2056 | H>Y | No | gnomAD | |
| rs2126593483 | 2057 | M>I | No | Ensembl | |
| rs1428312348 | 2060 | A>P | No | gnomAD | |
| rs1428312348 | 2060 | A>T | No | gnomAD | |
| rs2126593508 | 2060 | A>V | No | Ensembl | |
| rs1467928418 | 2062 | C>G | No | gnomAD | |
| rs1467928418 | 2062 | C>S | No | gnomAD | |
| rs768941009 | 2063 | Q>E | No |
ExAC TOPMed gnomAD |
|
| rs1295940544 | 2066 | P>S | No | gnomAD | |
| rs138476223 | 2067 | K>M | No |
ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 2068 | S>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs762996577 | 2070 | H>R | No | ExAC | |
| rs1323219369 | 2070 | H>Y | No | gnomAD | |
| rs781504120 | 2071 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs1755342140 | 2074 | E>G | No | TOPMed | |
| COSM1063718 | 2074 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs867358819 | 2075 | Y>* | No | Ensembl | |
| rs991268514 | 2076 | I>T | No | TOPMed | |
| rs1755342689 | 2076 | I>V | No | Ensembl | |
| TCGA novel | 2077 | D>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1229307488 | 2085 | Q>L | No |
TOPMed gnomAD |
|
|
COSM230057 rs1229307488 |
2085 | Q>R | NS [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs781722470 | 2086 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs752936485 | 2086 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1290362862 | 2088 | G>S | No |
TOPMed gnomAD |
|
| rs777656961 | 2090 | R>G | No |
ExAC gnomAD |
|
| rs1755391527 | 2090 | R>S | No | TOPMed | |
| rs144053719 | 2092 | Q>K | No |
ESP ExAC TOPMed gnomAD |
|
| rs1561538437 | 2094 | T>I | No | Ensembl | |
| TCGA novel | 2096 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1164482398 | 2098 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs778898788 | 2098 | I>N | No |
ExAC gnomAD |
|
| rs778898788 | 2098 | I>T | No |
ExAC gnomAD |
|
|
TCGA novel rs1755393323 |
2101 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1393377604 | 2102 | Q>R | No |
TOPMed gnomAD |
|
| rs771827238 | 2105 | M>I | No |
ExAC gnomAD |
|
|
RCV000658076 rs1554086815 |
2105 | M>R | No |
ClinVar Ensembl dbSNP |
|
| rs775298137 | 2106 | K>N | No |
ExAC gnomAD |
|
| TCGA novel | 2107 | Y>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs928851546 | 2109 | L>V | No | TOPMed | |
| COSM1063719 | 2110 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs2126598524 RCV001756959 |
2112 | K>R | No |
ClinVar Ensembl dbSNP |
|
| rs768400008 | 2113 | D>N | No |
ExAC gnomAD |
|
|
rs1755489464 RCV002269746 |
2114 | F>L | No |
ClinVar dbSNP gnomAD |
|
| rs1407899441 | 2116 | K>R | No |
TOPMed gnomAD |
|
| rs761419186 | 2119 | K>Q | No |
ExAC gnomAD |
|
| rs188033742 | 2122 | S>N | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs188033742 | 2122 | S>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1755491319 | 2124 | D>G | No | Ensembl | |
| rs1755491530 | 2125 | T>S | No | TOPMed | |
| rs1271651625 | 2128 | L>* | No | gnomAD | |
| rs1755517030 | 2130 | R>K | No | Ensembl | |
| rs1755517454 | 2133 | E>Q | No | Ensembl | |
| rs1291590908 | 2135 | M>I | No | gnomAD | |
| rs1755517839 | 2135 | M>L | No | gnomAD | |
| rs1755518041 | 2135 | M>T | No | Ensembl | |
| rs1392564980 | 2137 | I>T | No | gnomAD | |
|
rs1561540197 RCV000762144 |
2138 | V>I | No |
ClinVar Ensembl dbSNP |
|
| COSM3661560 | 2140 | R>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs147335955 | 2141 | R>L | No |
1000Genomes ESP ExAC gnomAD |
|
|
rs147335955 COSM1268604 |
2141 | R>Q | oesophagus [Cosmic] | No |
cosmic curated 1000Genomes ESP ExAC gnomAD |
| rs751465413 | 2141 | R>W | No |
ExAC gnomAD |
|
|
rs2126606723 RCV002254880 |
2143 | N>S | No |
ClinVar Ensembl dbSNP |
|
| rs747908803 | 2144 | D>N | No |
ExAC gnomAD |
|
| rs925194090 | 2145 | M>I | No | Ensembl | |
| rs1476535810 | 2145 | M>L | No | gnomAD | |
| rs756004915 | 2145 | M>T | No | ExAC | |
| rs1476535810 | 2145 | M>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
|
TCGA novel rs1755521266 |
2146 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1561540239 | 2146 | M>V | No | Ensembl | |
| rs915775173 | 2148 | V>L | No |
TOPMed gnomAD |
|
| rs915775173 | 2148 | V>M | No |
TOPMed gnomAD |
|
|
COSM1642646 rs182423419 RCV001769232 |
2150 | R>Q | stomach [Cosmic] | No |
cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
| rs1264087949 | 2150 | R>W | No |
TOPMed gnomAD |
|
| rs948553103 | 2152 | Q>E | No |
TOPMed gnomAD |
|
| COSM3827306 | 2153 | G>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1463713199 | 2154 | F>C | No | gnomAD | |
|
rs187902032 RCV001771426 |
2155 | D>E | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs1345683995 | 2155 | D>N | No |
TOPMed gnomAD |
|
| rs1159359192 | 2157 | K>E | No | gnomAD | |
| rs1033952658 | 2158 | I>F | No | TOPMed | |
| COSM4613650 | 2158 | I>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1755609566 | 2158 | I>T | No | Ensembl | |
| rs575356098 | 2159 | V>F | No |
1000Genomes ExAC gnomAD |
|
| rs575356098 | 2159 | V>I | No |
1000Genomes ExAC gnomAD |
|
| rs1561541437 | 2162 | G>D | No | Ensembl | |
| rs1755610653 | 2163 | K>Q | No | Ensembl | |
| rs1382022038 | 2168 | D>N | No | gnomAD | |
| rs1308284765 | 2169 | T>I | No | gnomAD | |
| COSM3827307 | 2170 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1348942786 | 2173 | T>I | No | gnomAD | |
| rs763111259 | 2176 | D>H | No |
ExAC gnomAD |
|
| rs763111259 | 2176 | D>N | No |
ExAC gnomAD |
|
| rs1162182542 | 2177 | A>T | No |
TOPMed gnomAD |
|
| rs1755613017 | 2177 | A>V | No | Ensembl | |
| rs370640168 | 2180 | L>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs760728211 | 2181 | P>S | No |
ExAC gnomAD |
|
|
COSM4405411 rs373321656 |
2182 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs753703369 | 2182 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs756906651 | 2183 | C>F | No |
ExAC gnomAD |
|
|
rs2126611738 RCV001584949 |
2186 | R>missing | No |
ClinVar dbSNP |
|
|
COSM1063720 rs1038296002 |
2187 | R>C | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
|
RCV001355049 rs1177557321 |
2187 | R>H | No |
ClinVar TOPMed dbSNP gnomAD |
|
|
COSM1619784 rs1177557321 |
2187 | R>L | liver [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs757822070 | 2188 | I>V | No |
ExAC gnomAD |
|
|
RCV002041138 rs982795600 |
2190 | L>F | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1755616218 | 2193 | Q>H | No | gnomAD | |
| rs1439814618 | 2194 | I>V | No | TOPMed | |
| rs201465691 | 2195 | V>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1755617322 | 2196 | I>M | No | TOPMed | |
| rs1191383932 | 2196 | I>T | No | gnomAD | |
| rs573060787 | 2196 | I>V | No | 1000Genomes | |
| rs1336100440 | 2197 | F>L | No |
TOPMed gnomAD |
|
| rs778053561 | 2199 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs749657022 | 2200 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs774414588 | 2201 | L>H | No | ExAC | |
| rs1280470283 | 2202 | D>G | No |
TOPMed gnomAD |
|
| rs746142541 | 2202 | D>N | No |
ExAC gnomAD |
|
| rs1755619635 | 2203 | K>E | No | TOPMed | |
| rs772007518 | 2203 | K>I | No |
ExAC TOPMed gnomAD |
|
| rs1217637443 | 2204 | K>Q | No | gnomAD | |
|
RCV000899520 COSM1542406 RCV001818740 rs141648983 |
2204 | K>R | lung [Cosmic] | No |
cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
| rs141648983 | 2204 | K>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs373870873 | 2207 | F>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs761683305 | 2208 | S>F | No |
ExAC TOPMed gnomAD |
|
| rs765126280 | 2209 | M>I | No |
ExAC TOPMed gnomAD |
|
| rs1039871643 | 2209 | M>L | No | TOPMed | |
|
rs750016484 RCV001769424 COSM3611916 |
2210 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs1755622143 | 2210 | P>S | No | Ensembl | |
| rs765759248 | 2212 | F>L | No |
ExAC TOPMed gnomAD |
|
| rs1448409694 | 2214 | F>L | No | gnomAD | |
| rs1755624205 | 2215 | K>N | No | TOPMed | |
| rs751085008 | 2216 | N>K | No |
ExAC gnomAD |
|
| rs756113889 | 2217 | S>N | No | gnomAD | |
|
rs1755624786 RCV002254998 |
2218 | I>V | No |
ClinVar TOPMed dbSNP |
|
| rs1329996334 | 2219 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1329996334 | 2219 | K>Q | No |
TOPMed gnomAD |
|
| rs747288436 | 2220 | V>G | No |
ExAC gnomAD |
|
| rs531972830 | 2220 | V>L | No |
ExAC gnomAD |
|
| rs531972830 | 2220 | V>M | No |
ExAC gnomAD |
|
| rs1755821655 | 2221 | S>C | No | gnomAD | |
| rs1755821655 | 2221 | S>G | No | gnomAD | |
| rs1190578334 | 2221 | S>I | No | gnomAD | |
| rs2126624149 | 2224 | C>Y | No | Ensembl | |
| rs984804041 | 2226 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs2126624219 | 2228 | N>Y | No | Ensembl | |
| rs1333552469 | 2233 | P>L | No | gnomAD | |
| rs61748186 | 2233 | P>S | No |
ESP ExAC TOPMed gnomAD |
|
|
rs61748186 RCV002052376 |
2233 | P>T | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1338677356 | 2235 | K>E | No |
TOPMed gnomAD |
|
| COSM482271 | 2235 | K>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1338677356 | 2235 | K>Q | No |
TOPMed gnomAD |
|
| TCGA novel | 2236 | F>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs975185210 | 2238 | L>V | No |
TOPMed gnomAD |
|
| rs375075483 | 2239 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA gnomAD |
| COSM3852371 | 2240 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs55916212 COSM3852372 VAR_041903 RCV000897498 |
2242 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ClinVar UniProt 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs55916212 | 2242 | T>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1422643969 | 2243 | G>D | No |
TOPMed gnomAD |
|
| rs1755825968 | 2243 | G>S | No | gnomAD | |
| rs1755826325 | 2244 | D>N | No | TOPMed | |
| rs766963203 | 2245 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs766963203 | 2245 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs200931566 | 2246 | V>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs779233977 | 2248 | T>A | No | Ensembl | |
| rs779233977 | 2248 | T>P | No | Ensembl | |
| rs779233977 | 2248 | T>S | No | Ensembl | |
| COSM736526 | 2250 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM3776394 rs1369327322 |
2250 | I>V | Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs1755828211 | 2252 | H>Q | No | TOPMed | |
| rs1755828583 | 2257 | S>N | No | TOPMed | |
| rs1755828784 | 2258 | V>I | No |
TOPMed gnomAD |
|
|
TCGA novel RCV001794777 rs2126624668 |
2259 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar NCI-TCGA Ensembl dbSNP |
| rs1440726041 | 2260 | Q>H | No | gnomAD | |
|
rs2126624722 RCV001755021 |
2262 | W>G | No |
ClinVar Ensembl dbSNP |
|
| rs1365799771 | 2264 | H>D | No | gnomAD | |
| rs1308369042 | 2264 | H>R | No | gnomAD | |
| rs1318770211 | 2265 | E>D | No |
TOPMed gnomAD |
|
| rs544029922 | 2269 | I>V | No | gnomAD | |
| rs1257748564 | 2270 | L>S | No |
TOPMed gnomAD |
|
| rs1199676069 | 2272 | N>H | No | TOPMed | |
| rs372939293 | 2274 | R>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs377126633 | 2274 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs748265956 | 2275 | N>D | No |
ExAC gnomAD |
|
| TCGA novel | 2275 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1369860736 | 2275 | N>S | No |
TOPMed gnomAD |
|
| TCGA novel | 2276 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs769831956 | 2276 | F>V | No |
ExAC TOPMed gnomAD |
|
|
rs1561544632 COSM4994533 |
2277 | L>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
|
rs746676823 COSM3611917 |
2282 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| rs2126633811 | 2283 | P>T | No | Ensembl | |
| rs2126633832 | 2284 | I>M | No | Ensembl | |
| rs768176704 | 2284 | I>V | No |
ExAC gnomAD |
|
| rs776030839 | 2285 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs776030839 | 2285 | E>Q | No |
ExAC gnomAD |
|
| rs1756014782 | 2286 | Y>C | No | TOPMed | |
| rs1756015332 | 2288 | R>W | No | gnomAD | |
| TCGA novel | 2289 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1756015567 | 2289 | N>T | No | gnomAD | |
| rs1756016502 | 2291 | S>N | No | TOPMed | |
| rs1457273476 | 2291 | S>R | No |
TOPMed gnomAD |
|
| rs1756017393 | 2292 | G>R | No | gnomAD | |
| rs1756020276 | 2294 | G>A | No |
TOPMed gnomAD |
|
| rs468203 | 2294 | G>S | No | Ensembl | |
| rs768043316 | 2295 | G>S | No |
ExAC gnomAD |
|
|
RCV001068965 rs1756023411 |
2297 | G>missing | No |
ClinVar dbSNP |
|
| rs753865163 | 2297 | G>D | No |
ExAC TOPMed gnomAD |
|
| rs1756026423 | 2298 | G>D | No | gnomAD | |
| rs778805953 | 2298 | G>S | No |
ExAC gnomAD |
|
|
rs749785358 RCV001541180 |
2298 | G>missing | No |
ClinVar dbSNP |
|
| rs745851077 | 2299 | S>G | No |
ExAC gnomAD |
|
| rs1240699317 | 2299 | S>T | No | TOPMed | |
| rs1756028158 | 2300 | G>R | No |
TOPMed gnomAD |
|
| rs1756028158 | 2300 | G>W | No |
TOPMed gnomAD |
|
| rs1271637211 | 2301 | G>D | No |
TOPMed gnomAD |
|
| rs1271637211 | 2301 | G>V | No |
TOPMed gnomAD |
|
| rs758154355 | 2302 | S>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
|
COSM1619785 rs779748437 |
2303 | G>D | liver [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs2126634631 | 2303 | G>R | No | Ensembl | |
| rs779748437 | 2303 | G>V | No |
ExAC TOPMed gnomAD |
|
|
rs768209828 COSM226127 |
2304 | G>R | NS [Cosmic] | No |
cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
RCV001818643 RCV000888325 rs552613615 |
2305 | G>D | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1262429321 | 2305 | G>S | No |
TOPMed gnomAD |
|
| rs1260206871 | 2306 | G>A | No |
TOPMed gnomAD |
|
| rs1756033542 | 2306 | G>R | No | Ensembl | |
| rs1756034637 | 2307 | G>D | No | TOPMed | |
|
RCV001772877 rs2126634805 |
2308 | S>missing | No |
ClinVar dbSNP |
|
|
RCV001572282 rs899466808 |
2308 | S>missing | No |
ClinVar dbSNP |
|
| rs1194072475 | 2308 | S>R | No |
TOPMed gnomAD |
|
| rs1053601846 | 2309 | G>C | No |
TOPMed gnomAD |
|
| rs1053601846 | 2309 | G>R | No |
TOPMed gnomAD |
|
| rs1053601846 | 2309 | G>S | No |
TOPMed gnomAD |
|
| rs892410126 | 2310 | G>D | No |
TOPMed gnomAD |
|
| rs1756036849 | 2310 | G>S | No | Ensembl | |
| rs1166836374 | 2311 | G>V | No | Ensembl | |
| rs1756038938 | 2312 | G>R | No | Ensembl | |
| rs1450697143 | 2313 | A>D | No |
TOPMed gnomAD |
|
|
rs2126635053 RCV001752442 |
2313 | A>P | No |
ClinVar Ensembl dbSNP |
|
| rs1450697143 | 2313 | A>V | No |
TOPMed gnomAD |
|
| rs2126635087 | 2314 | P>S | No | Ensembl | |
| rs1474704462 | 2315 | S>N | No |
TOPMed gnomAD |
|
| rs1756040366 | 2316 | G>S | No | TOPMed | |
| rs769488074 | 2317 | G>A | No |
ExAC gnomAD |
|
| rs769488074 | 2317 | G>D | No |
ExAC gnomAD |
|
| rs1756040774 | 2317 | G>R | No | TOPMed | |
|
TCGA novel rs1756040774 |
2317 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs1024850374 | 2318 | S>G | No | TOPMed | |
| rs907275452 | 2318 | S>N | No | Ensembl | |
|
rs1303675005 RCV001797492 |
2318 | S>missing | No |
ClinVar dbSNP |
|
| rs1756042423 | 2319 | G>A | No |
TOPMed gnomAD |
|
| rs774976248 | 2319 | G>S | No |
ExAC TOPMed gnomAD |
|
| rs1002927132 | 2320 | H>P | No |
TOPMed gnomAD |
|
| rs1002927132 | 2320 | H>R | No |
TOPMed gnomAD |
|
| rs1579802193 | 2323 | G>C | No | TOPMed | |
| rs1579802193 | 2323 | G>R | No | TOPMed | |
| rs1579802193 | 2323 | G>S | No | TOPMed | |
|
rs2126635452 RCV001558528 |
2324 | P>A | No |
ClinVar Ensembl dbSNP |
|
| rs1579802247 | 2325 | S>R | No | Ensembl | |
| rs2126635469 | 2325 | S>R | No | Ensembl | |
| rs1298121207 | 2325 | S>T | No | gnomAD | |
| rs1756045968 | 2326 | S>N | No | Ensembl | |
| rs1398009433 | 2329 | G>S | No |
TOPMed gnomAD |
|
| rs2126635560 | 2331 | P>A | No | Ensembl | |
| rs2126635571 | 2331 | P>L | No | Ensembl | |
| rs1234149106 | 2332 | S>C | No | gnomAD | |
| rs1234149106 | 2332 | S>R | No | gnomAD | |
| rs767873945 | 2333 | T>K | No |
ExAC TOPMed gnomAD |
|
| rs767873945 | 2333 | T>M | No |
ExAC TOPMed gnomAD |
|
| rs2126635623 | 2333 | T>P | No | Ensembl | |
| rs767873945 | 2333 | T>R | No |
ExAC TOPMed gnomAD |
|
| rs375274497 | 2334 | S>N | No |
ESP TOPMed gnomAD |
|
| rs2126635662 | 2334 | S>R | No | Ensembl | |
| rs2126635707 | 2336 | S>R | No | Ensembl | |
| rs760882236 | 2337 | R>P | No |
ExAC gnomAD |
|
| rs760882236 | 2337 | R>Q | No |
ExAC gnomAD |
|
| rs2126635731 | 2339 | S>A | No | Ensembl | |
| rs1416730940 | 2341 | I>M | No | gnomAD | |
| rs2126635773 | 2341 | I>S | No | Ensembl | |
| rs2126635760 | 2341 | I>V | No | Ensembl | |
|
RCV001268026 rs1261331062 |
2343 | Q>missing | No |
ClinVar dbSNP |
|
| rs2126635805 | 2343 | Q>P | No | Ensembl | |
| rs1482901881 | 2344 | P>L | No | gnomAD | |
| rs1482901881 | 2344 | P>R | No | gnomAD | |
| rs1259367928 | 2345 | V>F | No | gnomAD | |
| rs761855758 | 2346 | R>Q | No |
ExAC TOPMed gnomAD |
|
|
RCV001268499 rs1756051391 |
2347 | H>missing | No |
ClinVar dbSNP |
|
| rs765336109 | 2347 | H>Y | No |
ExAC gnomAD |
|
| rs1756051735 | 2348 | H>P | No | gnomAD | |
| rs758358609 | 2349 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs2126635946 | 2349 | P>L | No | Ensembl | |
| rs758358609 | 2349 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs758358609 | 2349 | P>T | No |
ExAC TOPMed gnomAD |
|
| rs779844024 | 2350 | P>A | No |
1000Genomes ExAC gnomAD |
|
| rs754870679 | 2350 | P>H | No |
ExAC TOPMed gnomAD |
|
| rs754870679 | 2350 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs779844024 | 2350 | P>S | No |
1000Genomes ExAC gnomAD |
|
| rs779844024 | 2350 | P>T | No |
1000Genomes ExAC gnomAD |
|
|
COSM1434868 rs746654944 |
2351 | V>C | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
| rs199638306 | 2351 | V>L | No |
ESP ExAC gnomAD |
|
| rs199638306 | 2351 | V>M | No |
ESP ExAC gnomAD |
|
|
COSM1288638 rs746654944 |
2351 | V>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
| rs1410469326 | 2353 | V>I | No | TOPMed | |
| rs1756056443 | 2354 | S>A | No | TOPMed | |
| rs1756056634 | 2354 | S>F | No | gnomAD | |
| rs777447174 | 2355 | S>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs1756057027 | 2355 | S>P | No | Ensembl | |
| rs777447174 | 2355 | S>Y | No |
ExAC gnomAD |
|
|
TCGA novel rs2126636133 |
2358 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs1756057822 | 2358 | S>P | No | gnomAD | |
| rs983345820 | 2359 | S>N | No | gnomAD | |
| rs912696628 | 2359 | S>R | No | Ensembl | |
| rs1579802648 | 2360 | Q>L | No |
TOPMed gnomAD |
|
| rs1579802648 | 2360 | Q>P | No |
TOPMed gnomAD |
|
| rs1579802648 | 2360 | Q>R | No |
TOPMed gnomAD |
|
|
rs1756058470 RCV001062043 |
2362 | E>missing | No |
ClinVar dbSNP |
|
| rs760932079 | 2364 | D>E | No |
ExAC gnomAD |
|
| rs772460643 | 2364 | D>G | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 2364 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs772460643 | 2364 | D>V | No |
ExAC TOPMed gnomAD |
|
| rs769110926 | 2365 | K>N | No |
ExAC gnomAD |
|
| rs1481429543 | 2367 | S>L | No | gnomAD | |
| rs944204611 | 2369 | T>M | No |
1000Genomes TOPMed gnomAD |
|
| rs975107010 | 2372 | P>A | No |
TOPMed gnomAD |
|
|
RCV000970118 rs199631028 |
2372 | P>L | No |
ClinVar 1000Genomes ESP ExAC dbSNP gnomAD |
|
| rs975107010 | 2372 | P>T | No |
TOPMed gnomAD |
|
| rs1266154392 | 2373 | G>E | No | Ensembl | |
| rs1452094943 | 2373 | G>R | No | gnomAD | |
| rs377055423 | 2374 | P>L | No |
ESP ExAC gnomAD |
|
| rs1174974356 | 2374 | P>S | No |
TOPMed gnomAD |
|
| rs1485982641 | 2375 | S>A | No |
1000Genomes gnomAD |
|
| rs1177359280 | 2375 | S>P | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1485982641 | 2375 | S>P | No |
1000Genomes gnomAD |
|
| rs1168379940 | 2376 | L>P | No | gnomAD | |
| rs1212377979 | 2377 | P>L | No | gnomAD | |
| rs892376440 | 2378 | P>A | No | TOPMed | |
|
COSM138473 rs766225305 |
2378 | P>L | skin [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs751572944 | 2379 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs781081298 | 2379 | P>H | No |
ExAC TOPMed gnomAD |
|
| rs781081298 | 2379 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs751572944 | 2379 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs751572944 | 2379 | P>T | No |
ExAC TOPMed gnomAD |
|
| rs1332218859 | 2381 | A>P | No |
TOPMed gnomAD |
|
| rs1332218859 | 2381 | A>S | No |
TOPMed gnomAD |
|
| rs1756066534 | 2381 | A>V | No | Ensembl | |
| rs1756066999 | 2382 | A>T | No | Ensembl | |
| rs777352114 | 2383 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs1245841159 | 2383 | P>L | No |
1000Genomes TOPMed gnomAD |
|
| rs777352114 | 2383 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs777352114 | 2383 | P>T | No |
ExAC TOPMed gnomAD |
|
| rs768857998 | 2384 | E>A | No |
ExAC gnomAD |
|
| rs780400179 | 2384 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs780400179 | 2384 | E>Q | No |
ExAC TOPMed gnomAD |
|
| rs768857998 | 2384 | E>V | No |
ExAC gnomAD |
|
| rs1396174601 | 2385 | A>G | No |
TOPMed gnomAD |
|
| rs776998623 | 2385 | A>S | No | ExAC | |
| rs761969823 | 2386 | G>C | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs761969823 | 2386 | G>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1756070447 | 2386 | G>V | No | gnomAD | |
| rs770011777 | 2388 | S>G | No |
ExAC gnomAD |
|
| rs559376311 | 2388 | S>R | No |
1000Genomes TOPMed |
|
| rs1394086150 | 2389 | A>T | No | gnomAD | |
|
rs533386148 RCV001676277 |
2389 | A>V | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs1328042700 | 2390 | P>S | No |
TOPMed gnomAD |
|
| rs1374995361 | 2391 | S>C | No |
TOPMed gnomAD |
|
| rs1756073044 | 2391 | S>R | No | TOPMed | |
| rs762931775 | 2392 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs1277059896 | 2392 | R>T | No |
TOPMed gnomAD |
|
| rs1434301383 | 2392 | R>W | No | gnomAD | |
| rs1363987424 | 2393 | R>G | No | gnomAD | |
| rs1290867150 | 2393 | R>Q | No | gnomAD | |
| rs1403489053 | 2394 | P>A | No | TOPMed | |
| rs766530950 | 2394 | P>H | No |
ExAC TOPMed gnomAD |
|
| rs766530950 | 2394 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs1403489053 | 2394 | P>T | No | TOPMed | |
| rs1403729862 | 2395 | P>A | No |
TOPMed gnomAD |
|
| rs1756075687 | 2395 | P>L | No | TOPMed | |
|
RCV001009277 rs1436796227 |
2396 | G>missing | No |
ClinVar dbSNP |
|
| rs774125964 | 2396 | G>S | No |
ExAC TOPMed gnomAD |
|
| rs1020302223 | 2396 | G>V | No |
TOPMed gnomAD |
|
|
RCV001008960 rs1579803563 |
2397 | A>missing | No |
ClinVar dbSNP |
|
| rs1273280153 | 2397 | A>T | No | gnomAD | |
| rs1442578346 | 2397 | A>V | No | TOPMed | |
| rs767362125 | 2398 | D>G | No |
ExAC TOPMed gnomAD |
|
| rs1756077958 | 2398 | D>Y | No | Ensembl | |
| rs1209702075 | 2399 | A>T | No | Ensembl | |
| rs2126637155 | 2399 | A>V | No | 1000Genomes | |
| rs920993463 | 2400 | E>K | No |
TOPMed gnomAD |
|
| rs1194570377 | 2401 | G>A | No |
TOPMed gnomAD |
|
|
rs2126637191 RCV002275780 |
2401 | G>EG | No |
ClinVar dbSNP |
|
| rs2126637218 | 2402 | S>A | No | Ensembl | |
| rs957824211 | 2402 | S>F | No |
TOPMed gnomAD |
|
| rs1579803701 | 2403 | E>K | No | Ensembl | |
| rs1579803701 | 2403 | E>Q | No | Ensembl | |
|
rs2126637259 RCV001727313 |
2404 | R>* | No |
ClinVar Ensembl dbSNP |
|
| rs1756080198 | 2404 | R>P | No | TOPMed | |
| rs1756080198 | 2404 | R>Q | No | TOPMed | |
| rs752544277 | 2406 | A>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs763823109 | 2408 | P>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs763823109 | 2408 | P>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs868112751 | 2408 | P>S | No |
TOPMed gnomAD |
|
| rs753590324 | 2409 | I>F | No |
ExAC TOPMed gnomAD |
|
| rs1170439184 | 2409 | I>T | No | TOPMed | |
| rs1756082241 | 2410 | P>L | No | TOPMed | |
| rs1756082026 | 2410 | P>T | No | gnomAD | |
| rs1431308669 | 2411 | K>E | No | gnomAD | |
|
RCV001786693 rs945042285 |
2412 | M>T | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1283417726 | 2412 | M>V | No |
TOPMed gnomAD |
|
| rs1243521830 | 2413 | K>E | No | gnomAD | |
| TCGA novel | 2413 | K>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1234883887 | 2415 | L>P | No | gnomAD | |
| rs927883781 | 2417 | S>I | No |
TOPMed gnomAD |
|
| rs1202913193 | 2417 | S>R | No | gnomAD | |
| rs1179793413 | 2418 | P>A | No | TOPMed | |
| rs756688384 | 2418 | P>L | No |
ExAC gnomAD |
|
| rs1756085423 | 2419 | R>G | No |
TOPMed gnomAD |
|
| rs1474458357 | 2420 | K>E | No | gnomAD | |
| rs2126637573 | 2421 | G>C | No | Ensembl | |
| rs867969777 | 2421 | G>D | No | gnomAD | |
| COSM4629185 | 2422 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs894555448 | 2423 | A>E | No | TOPMed | |
| rs1054989069 | 2423 | A>S | No |
TOPMed gnomAD |
|
| rs1054989069 | 2423 | A>T | No |
TOPMed gnomAD |
|
| rs894555448 | 2423 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs1401244540 | 2424 | N>K | No |
TOPMed gnomAD |
|
| rs1254080392 | 2424 | N>S | No | gnomAD | |
| rs755526606 | 2425 | A>T | No |
ExAC gnomAD |
|
| rs1380947157 | 2425 | A>V | No |
TOPMed gnomAD |
|
| rs868431157 | 2426 | S>* | No | TOPMed | |
| rs1455960623 | 2427 | G>A | No |
TOPMed gnomAD |
|
| rs1455960623 | 2427 | G>E | No |
TOPMed gnomAD |
|
| rs1455960623 | 2427 | G>V | No |
TOPMed gnomAD |
|
| rs1416463220 | 2428 | S>L | No |
TOPMed gnomAD |
|
| rs1416463220 | 2428 | S>W | No |
TOPMed gnomAD |
|
| rs1756090742 | 2429 | S>R | No | Ensembl | |
| rs1004632084 | 2429 | S>R | No | TOPMed | |
| rs1309704643 | 2429 | S>T | No | TOPMed | |
| rs1236350732 | 2430 | P>L | No |
TOPMed gnomAD |
|
| rs1334819048 | 2430 | P>S | No |
1000Genomes gnomAD |
|
| rs1334819048 | 2430 | P>T | No |
1000Genomes gnomAD |
|
| rs1756092380 | 2431 | D>G | No | gnomAD | |
| rs1756092169 | 2431 | D>H | No | gnomAD | |
| rs1218106910 | 2432 | A>D | No | gnomAD | |
| rs1350703833 | 2432 | A>S | No | gnomAD | |
| rs1350703833 | 2432 | A>T | No | gnomAD | |
|
rs966036357 RCV001556832 |
2434 | A>missing | No |
ClinVar dbSNP |
|
| rs925730493 | 2434 | A>T | No |
TOPMed gnomAD |
|
| rs996969519 | 2436 | D>E | No |
TOPMed gnomAD |
|
| rs1470578179 | 2437 | A>E | No |
TOPMed gnomAD |
|
| rs773401747 | 2437 | A>S | No |
ExAC TOPMed gnomAD |
|
|
rs773401747 RCV002214345 |
2437 | A>T | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1470578179 | 2437 | A>V | No |
TOPMed gnomAD |
|
| rs1756096540 | 2438 | R>C | No | TOPMed | |
| rs1393257693 | 2438 | R>H | No | gnomAD | |
| rs1323906637 | 2439 | A>D | No | TOPMed | |
| rs1174036266 | 2439 | A>T | No |
TOPMed gnomAD |
|
| TCGA novel | 2440 | S>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs958210461 | 2440 | S>T | No | TOPMed | |
|
RCV001548184 rs2126638222 |
2440 | S>missing | No |
ClinVar dbSNP |
|
| rs950025956 | 2441 | L>M | No |
TOPMed gnomAD |
|
| rs950025956 | 2441 | L>V | No |
TOPMed gnomAD |
|
| rs1554089000 | 2442 | G>D | No | gnomAD | |
| rs749567393 | 2443 | T>A | No |
ExAC TOPMed gnomAD |
|
| rs770877119 | 2443 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs749567393 | 2443 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs1439606868 | 2444 | L>P | No | gnomAD | |
| rs774513044 | 2444 | L>V | No |
ExAC TOPMed gnomAD |
|
|
rs1300607085 RCV001769073 |
2445 | P>Q | No |
ClinVar TOPMed dbSNP gnomAD |
|
| TCGA novel | 2445 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1256980174 | 2447 | G>R | No | gnomAD | |
| rs1339198627 | 2447 | G>V | No | gnomAD | |
| rs1756101577 | 2448 | K>N | No | gnomAD | |
| rs1253010371 | 2449 | P>L | No | gnomAD | |
| rs1756101886 | 2449 | P>S | No | gnomAD | |
| rs767558234 | 2450 | R>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs775624524 | 2450 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs767558234 | 2450 | R>W | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs753390682 | 2451 | A>D | No |
ExAC TOPMed gnomAD |
|
| rs753390682 | 2451 | A>G | No |
ExAC TOPMed gnomAD |
|
| rs764017310 | 2451 | A>P | No |
ExAC gnomAD |
|
|
RCV002255022 rs764017310 |
2451 | A>T | No |
ClinVar ExAC dbSNP gnomAD |
|
| rs753390682 | 2451 | A>V | No |
ExAC TOPMed gnomAD |
|
|
RCV001574940 rs749958296 |
2452 | G>A | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs764590474 | 2452 | G>R | No |
ExAC gnomAD |
|
|
rs1579804792 RCV001008430 |
2453 | A>missing | No |
ClinVar dbSNP |
|
|
rs1372405222 RCV000733697 |
2453 | A>missing | No |
ClinVar dbSNP |
|
|
rs1561549124 RCV001311643 |
2454 | A>missing | No |
ClinVar dbSNP |
|
| rs1460538487 | 2454 | A>P | No | gnomAD | |
| rs1460538487 | 2454 | A>S | No | gnomAD | |
| rs1440981769 | 2455 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
|
rs75338052 RCV000888588 |
2456 | P>L | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs748706115 | 2456 | P>T | No |
ExAC gnomAD |
|
| rs749422883 | 2458 | N>K | No |
ExAC TOPMed gnomAD |
|
| rs1271372458 | 2459 | S>P | No |
TOPMed gnomAD |
|
|
rs771188369 RCV002225063 |
2460 | P>L | No |
ClinVar ExAC dbSNP gnomAD |
|
| rs771188369 | 2460 | P>Q | No |
ExAC gnomAD |
|
| rs1469916281 | 2460 | P>S | No |
TOPMed gnomAD |
|
| rs1048442617 | 2461 | L>F | No |
TOPMed gnomAD |
|
| rs1756113294 | 2461 | L>P | No | TOPMed | |
| rs1048442617 | 2461 | L>V | No |
TOPMed gnomAD |
|
| rs1373363803 | 2462 | S>C | No |
TOPMed gnomAD |
|
| rs1373363803 | 2462 | S>F | No |
TOPMed gnomAD |
|
| rs1162280967 | 2463 | S>G | No | gnomAD | |
|
rs772325508 COSM3669425 |
2463 | S>I | liver [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs772325508 | 2463 | S>N | No |
ExAC TOPMed gnomAD |
|
|
RCV001765873 rs772325508 |
2463 | S>T | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs775534455 | 2464 | A>S | No |
ExAC gnomAD |
|
| rs775534455 | 2464 | A>T | No |
ExAC gnomAD |
|
|
CA3207395 RCV000513895 rs115054458 |
2464 | A>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1664001606 | 2465 | V>A | No | Ensembl | |
| rs2126639003 | 2465 | V>I | No | Ensembl | |
| rs567279839 | 2466 | P>A | No |
1000Genomes TOPMed gnomAD |
|
| rs567279839 | 2466 | P>S | No |
1000Genomes TOPMed gnomAD |
|
| rs567279839 | 2466 | P>T | No |
1000Genomes TOPMed gnomAD |
|
| rs1233033472 | 2467 | S>F | No | gnomAD | |
| rs1337219256 | 2468 | L>F | No | gnomAD | |
| rs764941819 | 2468 | L>P | No |
ExAC gnomAD |
|
|
rs1337219256 RCV002269686 |
2468 | L>V | No |
ClinVar dbSNP gnomAD |
|
| rs1456850463 | 2469 | G>A | No |
TOPMed gnomAD |
|
|
RCV001596388 rs750105964 |
2469 | G>S | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1456850463 | 2469 | G>V | No |
TOPMed gnomAD |
|
| rs756638265 | 2472 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs753162969 | 2472 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs754225119 | 2473 | F>L | No |
ExAC TOPMed gnomAD |
|
| rs2126639234 | 2473 | F>S | No | Ensembl | |
|
rs779173803 RCV001557175 |
2474 | P>H | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs779173803 | 2474 | P>L | No |
ExAC TOPMed gnomAD |
|
|
RCV001571777 rs779173803 |
2474 | P>R | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1361519406 | 2474 | P>S | No | gnomAD | |
|
rs780299553 RCV002254049 |
2475 | P>A | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs768715447 | 2475 | P>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs768715447 | 2475 | P>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs768715447 RCV001763732 |
2475 | P>R | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs780299553 | 2475 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs780299553 | 2475 | P>T | No |
ExAC TOPMed gnomAD |
|
|
RCV000591289 rs774597492 CA558340849 |
2476 | S>missing | No |
ClinGen ClinVar dbSNP |
|
|
COSM391752 rs774597492 |
2476 | S>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
| TCGA novel | 2476 | S>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 2476 | S>P | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1756126174 | 2476 | S>R | No | gnomAD | |
|
RCV001593489 rs2126639435 |
2477 | S>I | No |
ClinVar Ensembl dbSNP |
|
| rs769530289 | 2477 | S>I | No |
ExAC gnomAD |
|
| rs769530289 | 2477 | S>N | No |
ExAC gnomAD |
|
| rs2126639409 | 2477 | S>R | No | Ensembl | |
| rs772892807 | 2477 | S>R | No |
ExAC TOPMed gnomAD |
|
| rs927233695 | 2478 | P>L | No |
TOPMed gnomAD |
|
| rs927233695 | 2478 | P>R | No |
TOPMed gnomAD |
|
| rs1315149477 | 2478 | P>T | No | gnomAD | |
| rs2126639499 | 2479 | L>R | No | Ensembl | |
| rs200727118 | 2480 | Q>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs765826959 | 2480 | Q>R | No |
ExAC gnomAD |
|
|
rs759112471 RCV000901935 |
2481 | K>M | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs764647221 | 2481 | K>N | No |
ExAC TOPMed gnomAD |
|
| rs571329736 | 2482 | G>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs571329736 | 2482 | G>W | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs750620270 | 2483 | G>A | No |
ExAC TOPMed gnomAD |
|
| rs1259278819 | 2483 | G>R | No |
TOPMed gnomAD |
|
|
TCGA novel rs1756132533 |
2484 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs868393538 | 2485 | F>C | No | Ensembl | |
| rs747084220 | 2485 | F>C | No |
ExAC gnomAD |
|
| rs780213298 | 2485 | F>L | No |
ExAC TOPMed gnomAD |
|
| rs768679760 | 2485 | F>L | No |
ExAC TOPMed gnomAD |
|
|
COSM736525 rs748080841 |
2488 | S>C | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
| rs748080841 | 2488 | S>F | No |
ExAC gnomAD |
|
| rs1411046488 | 2488 | S>T | No |
TOPMed gnomAD |
|
| rs1756137497 | 2489 | I>F | No |
TOPMed gnomAD |
|
| rs772904946 | 2489 | I>S | No |
ExAC gnomAD |
|
| rs772904946 | 2489 | I>T | No |
ExAC gnomAD |
|
| rs1756137497 | 2489 | I>V | No |
TOPMed gnomAD |
|
| rs1756139172 | 2490 | P>H | No | Ensembl | |
| rs1756139172 | 2490 | P>L | No | Ensembl | |
| rs866983924 | 2490 | P>S | No | Ensembl | |
| rs1345246762 | 2491 | A>D | No |
TOPMed gnomAD |
|
| rs770576249 | 2491 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs770576249 | 2491 | A>T | No |
ExAC gnomAD |
|
| rs1345246762 | 2491 | A>V | No |
TOPMed gnomAD |
|
| rs774046957 | 2492 | S>F | No |
ExAC gnomAD |
|
| rs983753658 | 2492 | S>P | No | Ensembl | |
| rs774046957 | 2492 | S>Y | No |
ExAC gnomAD |
|
|
rs759022594 RCV000998358 |
2493 | P>A | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs766976574 | 2493 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs759022594 | 2493 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs759022594 | 2493 | P>T | No |
ExAC TOPMed gnomAD |
|
| rs765576014 | 2494 | A>P | No |
ExAC TOPMed gnomAD |
|
| rs765576014 | 2494 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1249325273 | 2494 | A>V | No |
TOPMed gnomAD |
|
| rs1481403237 | 2495 | S>G | No | gnomAD | |
| rs370830333 | 2495 | S>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs370830333 | 2495 | S>T | No |
ESP ExAC TOPMed gnomAD |
|
| COSM1434870 | 2496 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs751881856 | 2496 | R>G | No |
ExAC gnomAD |
|
| rs375694147 | 2496 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs375694147 | 2496 | R>P | No |
ESP ExAC TOPMed gnomAD |
|
|
rs375694147 COSM1230432 RCV001090987 |
2496 | R>Q | large_intestine [Cosmic] | No |
cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001548572 rs575340932 |
2497 | P>L | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs1415439827 | 2497 | P>S | No |
TOPMed gnomAD |
|
| rs1041144653 | 2498 | G>C | No | gnomAD | |
| rs1041144653 | 2498 | G>S | No | gnomAD | |
| rs1756147707 | 2499 | S>F | No | TOPMed | |
| rs1756148439 | 2501 | T>P | No | gnomAD | |
| rs1579806377 | 2501 | T>S | No | Ensembl | |
| rs749067851 | 2502 | F>L | No |
ExAC TOPMed gnomAD |
|
| rs770760244 | 2503 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs770760244 | 2503 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs1322173897 | 2503 | P>S | No |
TOPMed gnomAD |
|
| rs774871473 | 2504 | G>E | No |
ExAC TOPMed gnomAD |
|
| rs771558397 | 2504 | G>R | No |
ExAC gnomAD |
|
| rs774871473 | 2504 | G>V | No |
ExAC TOPMed gnomAD |
|
| rs1756151451 | 2505 | D>H | No | Ensembl | |
| rs762311483 | 2507 | D>N | No |
ExAC TOPMed gnomAD |
|
| rs1756152395 | 2508 | S>A | No |
TOPMed gnomAD |
|
| rs1294923975 | 2508 | S>C | No |
TOPMed gnomAD |
|
| rs1294923975 | 2508 | S>F | No |
TOPMed gnomAD |
|
| rs1018229670 | 2509 | L>R | No | Ensembl | |
| TCGA novel | 2510 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs765654860 | 2511 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs1249029623 | 2511 | R>Q | No | gnomAD | |
| rs765654860 | 2511 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs1756155529 | 2513 | T>I | No | TOPMed | |
| rs763389313 | 2514 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs1417767323 | 2514 | P>H | No |
TOPMed gnomAD |
|
| rs1417767323 | 2514 | P>L | No |
TOPMed gnomAD |
|
| rs763389313 | 2514 | P>S | No |
ExAC TOPMed gnomAD |
|
|
COSM3611920 rs766894115 RCV001320675 |
2515 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
| rs766894115 | 2515 | R>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1049938411 | 2515 | R>H | No |
TOPMed gnomAD |
|
| rs1049938411 | 2515 | R>L | No |
TOPMed gnomAD |
|
| rs1049938411 | 2515 | R>P | No |
TOPMed gnomAD |
|
|
RCV001773957 rs766894115 |
2515 | R>S | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs755179110 | 2517 | A>E | No |
ExAC TOPMed gnomAD |
|
|
RCV001581740 rs747483418 |
2517 | A>T | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs755179110 | 2517 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs767575412 | 2518 | A>D | No |
ExAC TOPMed gnomAD |
|
| rs767575412 | 2518 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs756285607 | 2519 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs988972885 | 2519 | P>S | No | TOPMed | |
| rs749262784 | 2520 | G>A | No |
ExAC TOPMed gnomAD |
|
| rs1218987215 | 2520 | G>S | No | gnomAD | |
| rs749262784 | 2520 | G>V | No |
ExAC TOPMed gnomAD |
|
| rs778701654 | 2522 | D>Y | No |
ExAC TOPMed gnomAD |
|
| rs1452730056 | 2523 | T>I | No |
TOPMed gnomAD |
|
| rs1215645270 | 2524 | D>E | No | gnomAD | |
|
rs1240842058 COSM3852375 |
2525 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
|
rs1756164006 RCV002248913 |
2525 | R>H | No |
ClinVar TOPMed dbSNP |
|
| rs1756164006 | 2525 | R>L | No | TOPMed | |
| rs1194842157 | 2526 | M>I | No | gnomAD | |
| rs1474315055 | 2528 | T>K | No | gnomAD | |
| rs771623442 | 2529 | C>Y | No |
ExAC gnomAD |
|
| rs971132384 | 2530 | S>F | No |
TOPMed gnomAD |
|
| rs779821138 | 2530 | S>P | No |
ExAC TOPMed gnomAD |
|
| rs1316188563 | 2531 | S>L | No | gnomAD | |
| rs1756166726 | 2532 | A>T | No | Ensembl | |
|
RCV001768574 rs1399435042 |
2533 | S>G | No |
ClinVar TOPMed dbSNP |
|
| rs1399435042 | 2533 | S>R | No | TOPMed | |
| TCGA novel | 2534 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000998359 rs1579806969 |
2534 | E>K | No |
ClinVar Ensembl dbSNP |
|
| rs2081618458 | 2536 | S>Y | No | Ensembl | |
| rs763589608 | 2537 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
|
RCV001840919 rs763589608 |
2537 | V>M | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1416206354 | 2538 | Q>P | No | gnomAD | |
| rs771377092 | 2539 | S>P | No |
ExAC TOPMed gnomAD |
|
| rs1034785220 | 2540 | T>A | No |
TOPMed gnomAD |
|
| rs1756169545 | 2542 | S>N | No | Ensembl | |
| rs1356452026 | 2544 | G>A | No |
TOPMed gnomAD |
|
| rs1282852477 | 2544 | G>R | No | gnomAD | |
| TCGA novel | 2545 | S>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2126659496 | 2545 | S>R | No | Ensembl | |
| rs149694127 | 2545 | S>T | No |
ESP TOPMed gnomAD |
|
| rs1756567707 | 2546 | E>A | No | TOPMed | |
| rs1756567525 | 2546 | E>K | No | Ensembl | |
| rs1756568053 | 2549 | S>C | No | Ensembl | |
| rs551360394 | 2550 | S>G | No |
TOPMed gnomAD |
|
| rs994340578 | 2550 | S>I | No |
TOPMed gnomAD |
|
| rs994340578 | 2550 | S>N | No |
TOPMed gnomAD |
|
| rs1756568893 | 2552 | N>D | No |
TOPMed gnomAD |
|
| rs775622371 | 2553 | I>T | No | ExAC | |
| rs986018906 | 2556 | M>I | No | TOPMed | |
|
RCV001658999 rs1756569627 |
2556 | M>T | No |
ClinVar TOPMed dbSNP |
|
| rs955511080 | 2556 | M>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs1756570400 | 2558 | V>A | No | TOPMed | |
| rs1756570591 | 2559 | T>I | No | TOPMed | |
| rs1399228299 | 2561 | D>N | No |
TOPMed gnomAD |
|
| rs1399228299 | 2561 | D>Y | No |
TOPMed gnomAD |
|
|
VAR_069372 RCV000998360 rs751663099 |
2563 | T>M | found in patient with severe intellectual disability; uncertain significance [UniProt] | No |
ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
| rs751663099 | 2563 | T>R | No |
ExAC TOPMed gnomAD |
|
| rs1400184056 | 2564 | A>S | No | gnomAD | |
|
COSM3373733 COSM3373734 |
2564 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1756571993 | 2568 | D>G | No | TOPMed | |
| rs772715145 | 2568 | D>N | No |
ExAC gnomAD |
|
| rs762518084 | 2569 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs768003700 | 2571 | N>D | No |
ExAC gnomAD |
|
| rs964812285 | 2571 | N>S | No | TOPMed | |
| rs768003700 | 2571 | N>Y | No |
ExAC gnomAD |
|
| rs756473641 | 2572 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs756473641 | 2572 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs764400338 | 2573 | Y>C | No |
ExAC gnomAD |
|
| rs1328391081 | 2574 | Q>H | No | gnomAD | |
| rs1561556139 | 2574 | Q>R | No | gnomAD | |
| rs1286646770 | 2575 | G>R | No | Ensembl | |
| rs372401976 | 2578 | V>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs1194719957 | 2580 | I>T | No | gnomAD | |
| TCGA novel | 2582 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs758599930 | 2583 | S>G | No |
ExAC TOPMed gnomAD |
|
| rs1756575581 | 2583 | S>R | No | Ensembl | |
| rs1418946312 | 2586 | Q>* | No | gnomAD | |
| rs375858476 | 2586 | Q>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs2126660137 RCV001391005 |
2588 | M>missing | No |
ClinVar dbSNP |
|
|
rs368253813 COSM420850 |
2588 | M>I | Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ESP NCI-TCGA |
| rs1756576762 | 2588 | M>K | No | Ensembl | |
| rs1333139819 | 2592 | F>L | No | gnomAD | |
| rs1338324455 | 2593 | R>* | No | gnomAD | |
| rs201937199 | 2593 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs759385450 | 2594 | A>S | No |
ExAC TOPMed gnomAD |
|
|
rs759385450 RCV000998361 |
2594 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs1756578213 | 2594 | A>V | No |
TOPMed gnomAD |
|
|
COSM3852379 COSM3852378 rs369051747 |
2595 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs1224521379 | 2598 | Q>R | No | TOPMed | |
| rs776028227 | 2600 | P>L | No |
ExAC gnomAD |
|
| rs2126660334 | 2600 | P>S | No | Ensembl | |
| rs544970837 | 2601 | A>V | No |
1000Genomes ExAC gnomAD |
|
| rs1756580711 | 2603 | E>D | No | Ensembl | |
| rs1440848092 | 2604 | G>S | No | gnomAD | |
| rs754145953 | 2608 | G>D | No |
ExAC gnomAD |
|
| rs1756581399 | 2609 | F>L | No | TOPMed | |
| TCGA novel | 2613 | H>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1319737772 | 2614 | T>A | No | TOPMed | |
|
RCV001786070 rs2126660520 |
2615 | S>N | No |
ClinVar Ensembl dbSNP |
|
| rs1468110165 | 2616 | A>T | No | TOPMed | |
| rs1335783894 | 2616 | A>V | No | gnomAD | |
| rs1756584092 | 2617 | V>L | No | Ensembl | |
| rs371688546 | 2619 | V>M | No |
ESP ExAC TOPMed gnomAD |
|
|
RCV000912141 rs746908833 |
2620 | E>Q | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1756585689 | 2621 | N>T | No | TOPMed | |
| rs575988358 | 2622 | P>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs575988358 | 2622 | P>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs146525516 | 2622 | P>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV002245128 rs146525516 |
2622 | P>T | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs748973838 | 2623 | D>N | No |
ExAC TOPMed gnomAD |
|
| rs2126660759 | 2623 | D>V | No | Ensembl | |
|
RCV001709854 rs149134122 |
2624 | G>E | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs770382076 | 2624 | G>R | No |
ExAC gnomAD |
|
|
rs375286965 RCV001814945 |
2625 | T>I | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1420374088 | 2627 | K>R | No |
TOPMed gnomAD |
|
| rs1172229268 | 2628 | K>N | No | gnomAD | |
| rs1756930616 | 2631 | S>F | No | Ensembl | |
| rs576263725 | 2632 | W>* | No | 1000Genomes | |
| rs763172575 | 2632 | W>G | No | Ensembl | |
| rs141187569 | 2633 | H>N | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1171604867 | 2634 | T>I | No |
TOPMed gnomAD |
|
|
COSM3661562 rs759506714 COSM3661561 |
2637 | R>C | liver Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs759506714 | 2637 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs373487081 | 2637 | R>H | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM3994088 COSM3994089 |
2637 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs377442700 | 2639 | R>K | No |
ESP TOPMed gnomAD |
|
| rs1340162874 | 2639 | R>S | No | gnomAD | |
| rs377442700 | 2639 | R>T | No |
ESP TOPMed gnomAD |
|
|
RCV001255011 rs200539540 RCV001552103 |
2641 | K>T | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs764247547 | 2642 | S>C | No | TOPMed | |
| rs1756932990 | 2642 | S>P | No | Ensembl | |
| rs764247547 | 2642 | S>Y | No | TOPMed | |
| rs917707330 | 2645 | K>N | No | TOPMed | |
| rs527326999 | 2646 | D>H | No |
ExAC TOPMed gnomAD |
|
| rs527326999 | 2646 | D>N | No |
ExAC TOPMed gnomAD |
|
| rs1756934408 | 2646 | D>V | No | Ensembl | |
|
rs527326999 RCV002260824 |
2646 | D>Y | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs2126677228 | 2647 | K>E | No | Ensembl | |
| rs980405395 | 2647 | K>R | No |
TOPMed gnomAD |
|
| rs574902109 | 2648 | D>E | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1756934972 | 2648 | D>H | No | Ensembl | |
|
rs560268826 RCV001769425 |
2649 | G>A | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs200240991 | 2649 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs1756936101 | 2654 | K>E | No | Ensembl | |
|
rs771433340 RCV002267229 |
2656 | E>K | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1036308877 | 2657 | N>K | No |
TOPMed gnomAD |
|
|
COSM1063723 rs552382011 |
2658 | G>S | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs1756937076 | 2659 | Y>C | No | Ensembl | |
| rs770422456 | 2660 | R>Q | No |
ExAC gnomAD |
|
| rs1184761487 | 2662 | S>L | No |
TOPMed gnomAD |
|
| rs1367240779 | 2663 | R>G | No |
TOPMed gnomAD |
|
| rs759013979 | 2663 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs1367240779 | 2663 | R>W | No |
TOPMed gnomAD |
|
|
COSM1310812 rs1372320588 |
2665 | G>E | Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed |
| rs749594684 | 2665 | G>R | No |
ExAC gnomAD |
|
| rs774400283 | 2666 | L>H | No |
ExAC gnomAD |
|
| rs151253542 | 2667 | S>G | No |
ESP TOPMed gnomAD |
|
| rs1189643630 | 2667 | S>R | No | gnomAD | |
| rs1412012668 | 2668 | N>H | No | gnomAD | |
| rs1385932901 | 2669 | K>E | No | gnomAD | |
| rs1021651189 | 2670 | V>A | No | TOPMed | |
| rs759829470 | 2670 | V>I | No |
ExAC TOPMed gnomAD |
|
|
rs759829470 COSM3994091 COSM3994090 |
2670 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD NCI-TCGA Cosmic |
| rs760800617 | 2671 | S>P | No |
ExAC TOPMed gnomAD |
|
| COSM482272 | 2671 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1756940617 | 2672 | V>A | No |
TOPMed gnomAD |
|
|
rs753808954 RCV001763044 |
2672 | V>L | No |
ExAC gnomAD ClinVar dbSNP |
|
| rs753808954 | 2672 | V>M | No |
ExAC gnomAD |
|
| rs756958239 | 2673 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs756958239 | 2673 | K>T | No |
ExAC TOPMed gnomAD |
|
| rs1757000799 | 2674 | L>F | No | Ensembl | |
| TCGA novel | 2674 | L>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs150431198 | 2676 | N>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs150431198 | 2676 | N>T | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM4394491 COSM4394492 |
2677 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs978593068 | 2678 | N>S | No | TOPMed | |
| rs1257364977 | 2680 | I>L | No | gnomAD | |
| rs1461434284 | 2680 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1257364977 | 2680 | I>V | No | gnomAD | |
|
RCV001586909 rs764872076 |
2681 | Y>S | No |
ClinVar ExAC dbSNP |
|
| rs1757002274 | 2683 | V>I | No | Ensembl | |
| rs1466171905 | 2684 | P>L | No | TOPMed | |
| rs1233930670 | 2684 | P>S | No | gnomAD | |
| rs769759491 | 2685 | P>A | No |
ExAC gnomAD |
|
| rs1271334003 | 2685 | P>L | No | gnomAD | |
| rs371720824 | 2687 | F>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs374896197 | 2688 | V>I | No |
ESP ExAC TOPMed gnomAD |
|
|
rs142582947 RCV001576586 |
2689 | I>T | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs766309424 | 2689 | I>V | No |
ExAC gnomAD |
|
|
TCGA novel rs1757017760 |
2690 | P>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs1757018967 | 2695 | T>A | No | Ensembl | |
| rs1757019760 | 2697 | E>G | No |
TOPMed gnomAD |
|
| rs1398949634 | 2697 | E>K | No | gnomAD | |
| rs1243975878 | 2699 | G>R | No | TOPMed | |
| rs755625124 | 2700 | E>Q | No |
ExAC gnomAD |
|
|
rs200412299 RCV000924231 |
2702 | V>I | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 2705 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1274392898 | 2705 | R>K | No | gnomAD | |
| rs1321582196 | 2706 | C>Y | No | gnomAD | |
| rs781325291 | 2709 | C>Y | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 2710 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001768575 rs373515068 |
2711 | R>C | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs375871711 | 2711 | R>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs927270114 | 2713 | K>T | No | Ensembl | |
| rs1757023079 | 2714 | A>T | No | Ensembl | |
| rs867105587 | 2714 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| rs773161554 | 2716 | I>V | No |
ExAC gnomAD |
|
| rs1757023556 | 2717 | T>I | No | TOPMed | |
| rs1167562369 | 2718 | W>C | No |
TOPMed gnomAD |
|
| rs1187128965 | 2718 | W>R | No | gnomAD | |
| rs1369497590 | 2718 | W>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs763007498 | 2719 | K>N | No |
ExAC gnomAD |
|
| rs774297322 | 2720 | G>C | No |
ExAC TOPMed gnomAD |
|
| rs567169688 | 2720 | G>D | No |
ExAC TOPMed gnomAD |
|
|
rs774297322 COSM345720 |
2720 | G>R | lung [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs770557515 | 2721 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs1038616132 | 2721 | P>R | No | Ensembl | |
| rs770557515 | 2721 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs760190115 | 2723 | H>Y | No |
ExAC gnomAD |
|
| rs576174268 | 2725 | T>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs373399151 | 2728 | N>D | No |
ESP ExAC TOPMed gnomAD |
|
| rs1757026738 | 2728 | N>S | No | gnomAD | |
| rs751905605 | 2729 | D>N | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 2731 | H>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1757027786 | 2733 | S>G | No | TOPMed | |
| rs939762811 | 2733 | S>I | No | TOPMed | |
| rs1051241584 | 2734 | I>M | No | Ensembl | |
| rs1757028278 | 2734 | I>T | No | Ensembl | |
| rs781446814 | 2734 | I>V | No |
ExAC gnomAD |
|
| rs1757028585 | 2736 | Y>C | No | gnomAD | |
| rs1296826383 | 2737 | S>N | No | gnomAD | |
| rs767859765 | 2737 | S>R | No |
ExAC TOPMed gnomAD |
|
|
COSM3852382 COSM3852381 |
2738 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV000901936 rs148564401 |
2739 | L>P | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1561563818 | 2739 | L>V | No | gnomAD | |
| rs139314793 | 2743 | T>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs139314793 | 2743 | T>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1012969286 | 2744 | L>P | No |
TOPMed gnomAD |
|
| rs1757053788 | 2744 | L>V | No | Ensembl | |
| rs757359336 | 2746 | I>M | No |
ExAC TOPMed gnomAD |
|
| rs149437604 | 2747 | V>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs149437604 | 2747 | V>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs750305752 | 2748 | G>S | No |
ExAC gnomAD |
|
| rs143848658 | 2749 | V>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs1757055641 | 2750 | T>A | No | Ensembl | |
| rs746758470 | 2751 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs780783674 | 2752 | E>K | No |
ExAC gnomAD |
|
| rs1757057345 | 2756 | I>F | No | TOPMed | |
| rs1163805120 | 2757 | Y>C | No | TOPMed | |
| rs148196343 | 2758 | T>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs148196343 | 2758 | T>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM3852383 COSM3852384 |
2759 | C>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs772446694 | 2760 | I>T | No |
ExAC gnomAD |
|
| rs1024629093 | 2761 | A>S | No |
TOPMed gnomAD |
|
| rs1024629093 | 2761 | A>T | No |
TOPMed gnomAD |
|
| TCGA novel | 2761 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1284138207 | 2762 | V>A | No | gnomAD | |
|
RCV000728800 rs141199137 |
2763 | N>D | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs764571214 | 2763 | N>S | No |
ExAC gnomAD |
|
|
COSM3852385 COSM3852386 |
2764 | D>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs754050792 | 2764 | D>N | No |
ExAC gnomAD |
|
| rs754050792 | 2764 | D>Y | No |
ExAC gnomAD |
|
|
RCV000599090 rs1554091578 CA658796505 |
2765 | M>missing | No |
ClinGen ClinVar dbSNP |
|
| rs367779826 | 2765 | M>T | No |
ESP TOPMed gnomAD |
|
|
RCV001659444 rs537149506 |
2765 | M>V | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs1449967521 | 2766 | G>A | No | TOPMed | |
|
COSM1063725 RCV000895195 rs146227809 |
2767 | S>L | endometrium [Cosmic] | No |
cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
| rs1757061331 | 2768 | A>S | No | Ensembl | |
|
RCV001200511 rs1757061331 |
2768 | A>T | No |
ClinVar Ensembl dbSNP |
|
| rs1490774175 | 2769 | S>L | No | gnomAD | |
|
RCV001797341 rs750455503 |
2770 | S>L | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1757062013 | 2771 | S>L | No |
TOPMed gnomAD |
|
|
COSM6169717 COSM6169716 |
2773 | S>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM1486458 COSM5212570 rs1757062544 |
2773 | S>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed |
| rs1757062360 | 2773 | S>T | No |
TOPMed gnomAD |
|
| rs2126683415 | 2775 | R>S | No | Ensembl | |
| rs779824023 | 2776 | V>F | No |
ExAC gnomAD |
|
| rs1476003558 | 2777 | L>V | No | gnomAD | |
| rs1016603860 | 2778 | G>D | No |
TOPMed gnomAD |
|
|
COSM1619786 rs1016603860 |
2778 | G>V | liver [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs745436046 | 2779 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs769269295 | 2780 | G>E | No |
ExAC TOPMed gnomAD |
|
| rs1159586289 | 2781 | M>T | No | TOPMed | |
| rs777324793 | 2781 | M>V | No | ExAC | |
| rs770313992 | 2785 | M>I | No |
ExAC TOPMed gnomAD |
|
| rs1757375550 | 2785 | M>V | No | TOPMed | |
| rs1438619187 | 2786 | V>E | No | Ensembl | |
| rs1189498482 | 2786 | V>M | No |
TOPMed gnomAD |
|
| rs763250311 | 2787 | T>I | No |
ExAC gnomAD |
|
| TCGA novel | 2788 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1465615917 RCV001753982 |
2790 | D>G | No |
ClinVar dbSNP gnomAD |
|
| rs1408247076 | 2793 | D>G | No | gnomAD | |
| rs1216169817 | 2794 | S>T | No | TOPMed | |
| rs944775553 | 2795 | F>I | No |
TOPMed gnomAD |
|
| rs774486579 | 2797 | S>C | No |
ExAC gnomAD |
|
| rs971909975 | 2798 | E>G | No | TOPMed | |
| rs1757378858 | 2800 | A>S | No | Ensembl | |
| rs1757379008 | 2800 | A>V | No | Ensembl | |
| TCGA novel | 2805 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3674342 COSM3674343 rs1252197672 |
2805 | G>S | Variant assessed as Somatic; MODERATE impact. prostate [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 2806 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1178662992 | 2809 | V>A | No |
TOPMed gnomAD |
|
| rs753188120 | 2810 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs1757517795 | 2812 | K>* | No | TOPMed | |
| rs1480837521 | 2814 | D>G | No | gnomAD | |
|
RCV001752401 rs1757518739 |
2815 | Q>R | No |
ClinVar TOPMed dbSNP |
|
| rs981802669 | 2816 | K>N | No | TOPMed | |
|
RCV000972734 rs73749289 |
2816 | K>R | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1254723482 | 2817 | G>E | No | Ensembl | |
| rs928559459 | 2818 | T>S | No | TOPMed | |
| rs1579855752 | 2819 | K>R | No | Ensembl | |
| rs778203334 | 2820 | R>* | No |
ExAC TOPMed gnomAD |
|
| rs778203334 | 2820 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs149746078 | 2820 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs1757520523 | 2822 | V>A | No |
TOPMed gnomAD |
|
| rs1224958882 | 2822 | V>M | No |
TOPMed gnomAD |
|
| rs771243216 | 2823 | A>T | No |
ExAC gnomAD |
|
| TCGA novel | 2823 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1757521228 | 2824 | T>I | No | Ensembl | |
| rs1365755018 | 2831 | L>M | No | gnomAD | |
| rs139268252 | 2831 | L>S | No | 1000Genomes | |
| rs746116088 | 2832 | M>I | No |
ExAC gnomAD |
|
| TCGA novel | 2832 | M>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs772068570 | 2833 | K>R | No |
ExAC gnomAD |
|
| rs56400458 | 2834 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
RCV001816391 rs1219411556 |
2834 | R>H | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs768614002 | 2835 | D>H | No |
ExAC gnomAD |
|
|
rs768614002 COSM3209958 COSM3852389 |
2835 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| rs1359255718 | 2836 | Q>R | No |
TOPMed gnomAD |
|
|
RCV001764932 rs2126708891 |
2837 | V>F | No |
ClinVar Ensembl dbSNP |
|
| rs1023456783 | 2838 | T>I | No |
TOPMed gnomAD |
|
| rs1294234947 | 2840 | E>D | No | gnomAD | |
| rs1757524806 | 2843 | I>V | No | TOPMed | |
| COSM1063728 | 2845 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs980177928 | 2845 | Q>R | No |
TOPMed gnomAD |
|
| rs761627287 | 2846 | S>G | No |
ExAC TOPMed gnomAD |
|
|
rs764963809 RCV001568665 |
2846 | S>N | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs761627287 | 2846 | S>R | No |
ExAC TOPMed gnomAD |
|
| rs750037919 | 2847 | L>F | No |
ExAC gnomAD |
|
|
rs2126708999 RCV001532040 |
2847 | L>H | No |
ClinVar Ensembl dbSNP |
|
| rs1579856097 | 2849 | H>P | No | Ensembl | |
| rs867577569 | 2849 | H>Q | No | TOPMed | |
| rs567783973 | 2850 | P>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs751102997 | 2852 | L>F | No |
ExAC gnomAD |
|
| rs1757527491 | 2853 | V>A | No | TOPMed | |
| rs1757527321 | 2853 | V>I | No | TOPMed | |
| rs778314493 | 2854 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1186181939 | 2855 | L>F | No |
TOPMed gnomAD |
|
| rs757595983 | 2857 | D>N | No |
ExAC gnomAD |
|
| rs1193947864 | 2858 | T>I | No |
TOPMed gnomAD |
|
| rs779266567 | 2859 | F>S | No |
ExAC gnomAD |
|
| rs746294156 | 2860 | E>V | No |
ExAC TOPMed gnomAD |
|
| rs1200336379 | 2862 | P>L | No |
TOPMed gnomAD |
|
| rs1200336379 | 2862 | P>R | No |
TOPMed gnomAD |
|
| rs1317550916 | 2862 | P>S | No |
TOPMed gnomAD |
|
| rs1757530428 | 2863 | T>A | No | Ensembl | |
| rs1757530600 | 2863 | T>I | No | Ensembl | |
| rs1223468714 | 2867 | L>P | No | gnomAD | |
| rs1249793204 | 2870 | E>D | No | gnomAD | |
|
rs2126709386 RCV001823353 |
2871 | M>L | No |
ClinVar Ensembl dbSNP |
|
| rs1216511682 | 2871 | M>T | No | gnomAD | |
|
rs2126719484 RCV001767304 |
2872 | A>T | No |
ClinVar Ensembl dbSNP |
|
| rs1757745001 | 2874 | Q>R | No | Ensembl | |
|
rs755026998 RCV002214347 COSM3852391 COSM20978 |
2876 | R>C | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM1310813 rs781136104 |
2876 | R>H | Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM3827311 COSM3827310 rs748327260 |
2877 | L>F | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs1225416228 | 2878 | L>R | No | gnomAD | |
| rs769841215 | 2878 | L>V | No |
ExAC gnomAD |
|
| rs1757746755 | 2880 | C>R | No | Ensembl | |
| rs770882597 | 2881 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs1159993254 | 2882 | V>L | No | TOPMed | |
| rs377385359 | 2883 | R>Q | No |
ESP ExAC gnomAD |
|
|
COSM3827313 COSM3827312 |
2885 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs766990520 | 2885 | G>R | No |
ExAC gnomAD |
|
| rs1757750467 | 2886 | S>G | No | TOPMed | |
| rs148938868 | 2886 | S>N | No |
ESP TOPMed gnomAD |
|
| rs765700098 | 2889 | E>* | No |
ExAC gnomAD |
|
|
COSM4817407 rs750957870 COSM4817408 |
2891 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC gnomAD NCI-TCGA Cosmic |
| rs1269889829 | 2891 | K>R | No | Ensembl | |
| rs200337620 | 2894 | A>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs200337620 | 2894 | A>V | No |
ESP ExAC TOPMed gnomAD |
|
| COSM736521 | 2895 | H>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1302839878 | 2898 | E>G | No | gnomAD | |
| rs2126719882 | 2898 | E>K | No | Ensembl | |
| rs751736444 | 2899 | V>L | No |
ExAC gnomAD |
|
| rs755150790 | 2901 | E>D | No |
ExAC gnomAD |
|
| rs1446247668 | 2901 | E>G | No | gnomAD | |
| rs781534921 | 2902 | A>G | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 2903 | V>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs182365882 RCV002214348 |
2904 | R>L | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs182365882 | 2904 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
COSM3611925 COSM3611924 rs748154890 |
2904 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| rs2126719996 | 2907 | H>P | No | Ensembl | |
| TCGA novel | 2907 | H>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs770794689 | 2909 | C>R | No |
ExAC TOPMed gnomAD |
|
| rs1332808924 | 2910 | R>K | No | TOPMed | |
| rs894401731 | 2911 | I>V | No | TOPMed | |
| rs919290345 | 2912 | A>V | No | TOPMed | |
| rs1381503814 | 2913 | H>Q | No |
TOPMed gnomAD |
|
| rs774025851 | 2913 | H>Y | No |
ExAC gnomAD |
|
| rs1757757559 | 2915 | D>G | No | Ensembl | |
| rs771926422 | 2921 | I>M | No |
ExAC TOPMed gnomAD |
|
| rs1757819609 | 2921 | I>V | No | gnomAD | |
| rs1012669462 | 2923 | V>G | No | TOPMed | |
| rs200758734 | 2923 | V>M | No |
TOPMed gnomAD |
|
| rs746670367 | 2925 | E>* | No |
ExAC gnomAD |
|
| rs776107170 | 2925 | E>D | No |
ExAC gnomAD |
|
| rs746670367 | 2925 | E>K | No |
ExAC gnomAD |
|
| rs777707114 | 2926 | S>R | No |
ExAC TOPMed gnomAD |
|
| rs1757821002 | 2927 | L>F | No | Ensembl | |
| rs1757821187 | 2928 | A>G | No | Ensembl | |
| TCGA novel | 2929 | K>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2126723233 | 2929 | K>T | No | Ensembl | |
| rs1190449797 | 2930 | P>L | No | gnomAD | |
| rs1389312406 | 2930 | P>S | No | gnomAD | |
| rs771310735 | 2931 | T>A | No |
ExAC TOPMed gnomAD |
|
| rs1387734304 | 2931 | T>N | No | gnomAD | |
| rs201908582 | 2933 | K>R | No | TOPMed | |
| rs560128704 | 2935 | A>S | No | Ensembl | |
| rs1396381285 | 2935 | A>V | No |
TOPMed gnomAD |
|
| rs767953889 | 2941 | V>F | No |
ExAC TOPMed gnomAD |
|
| rs767953889 | 2941 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs767953889 | 2941 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs764464796 | 2942 | Q>P | No |
ExAC TOPMed gnomAD |
|
| rs145444034 | 2944 | N>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs961302746 | 2945 | T>A | No |
TOPMed gnomAD |
|
| rs922435466 | 2948 | Y>C | No |
TOPMed gnomAD |
|
|
COSM3674345 COSM3674344 |
2948 | Y>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs200262568 | 2949 | I>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs142452362 | 2951 | Q>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs1466367699 | 2955 | N>S | No | gnomAD | |
| rs1342268937 | 2956 | P>A | No | TOPMed | |
| rs780863165 | 2959 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs780863165 | 2959 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| COSM1063729 | 2960 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1344382897 | 2961 | P>L | No | gnomAD | |
| rs1757828338 | 2962 | E>D | No | Ensembl | |
| rs1757828687 | 2965 | L>F | No | TOPMed | |
| rs1276750547 | 2965 | L>H | No |
TOPMed gnomAD |
|
| rs1276750547 | 2965 | L>R | No |
TOPMed gnomAD |
|
| rs903212005 | 2966 | G>E | No |
TOPMed gnomAD |
|
| rs201455780 | 2966 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs772264976 | 2967 | N>I | No |
ExAC gnomAD |
|
| rs775980255 | 2969 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs764393228 | 2972 | T>N | No |
ExAC gnomAD |
|
| rs188618696 | 2975 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs1757831443 | 2978 | V>F | No | TOPMed | |
| rs1427221024 | 2980 | V>A | No | gnomAD | |
| rs201842117 | 2980 | V>M | No |
1000Genomes ExAC gnomAD |
|
| rs1433655618 | 2981 | L>I | No | gnomAD | |
|
rs1187134596 RCV001758477 |
2982 | T>I | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs146710788 | 2984 | V>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs1402592422 | 2985 | L>I | No |
TOPMed gnomAD |
|
| rs1757834130 | 2987 | S>G | No | TOPMed | |
| rs2126724088 | 2988 | G>C | No | Ensembl | |
| rs1272193322 | 2989 | V>A | No |
TOPMed gnomAD |
|
| rs373416203 | 2989 | V>M | No |
ESP TOPMed gnomAD |
|
| rs1365664345 | 2991 | P>A | No | TOPMed | |
| rs980240232 | 2993 | L>V | No | gnomAD | |
|
COSM165152 rs1358951761 |
2995 | D>N | breast [Cosmic] | No |
cosmic curated gnomAD |
| TCGA novel | 2996 | S>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs888185233 | 3001 | C>* | No |
TOPMed gnomAD |
|
| rs776176447 | 3001 | C>Y | No |
ExAC gnomAD |
|
| rs769177234 | 3004 | I>V | No |
ExAC gnomAD |
|
|
rs926370862 COSM331448 |
3006 | R>C | lung [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs55892819 | 3006 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs55892819 | 3006 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs926370862 | 3006 | R>S | No |
TOPMed gnomAD |
|
| rs959137976 | 3007 | L>S | No | Ensembl | |
| rs1391195691 | 3008 | D>G | No | Ensembl | |
| rs973156766 | 3009 | F>L | No |
TOPMed gnomAD |
|
| rs973156766 | 3009 | F>V | No |
TOPMed gnomAD |
|
| rs765437526 | 3012 | P>Q | No |
ExAC gnomAD |
|
| rs773898427 | 3013 | D>G | No | Ensembl | |
|
rs928977803 RCV001090989 |
3013 | D>N | No |
ClinVar dbSNP gnomAD |
|
| rs773337839 | 3014 | D>A | No |
ExAC gnomAD |
|
| rs1015250052 | 3014 | D>Y | No |
TOPMed gnomAD |
|
| rs2126724409 | 3015 | Y>C | No | Ensembl | |
| rs1579868458 | 3015 | Y>H | No | TOPMed | |
| rs1757840246 | 3016 | F>L | No | gnomAD | |
| rs1757840410 | 3017 | K>* | No | TOPMed | |
| rs376399006 | 3017 | K>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs752230107 | 3021 | Q>* | No |
ExAC TOPMed gnomAD |
|
| rs1244109483 | 3021 | Q>R | No |
TOPMed gnomAD |
|
| rs755775534 | 3022 | K>R | No |
ExAC gnomAD |
|
| rs1215074455 | 3023 | A>V | No | gnomAD | |
| rs202205709 | 3024 | K>R | No | gnomAD | |
| rs565906189 | 3027 | V>M | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs747525769 | 3028 | C>S | No |
ExAC TOPMed gnomAD |
|
|
rs2126724644 RCV003138127 RCV002253146 |
3030 | L>F | No |
ClinVar Ensembl dbSNP |
|
| rs1561577369 | 3032 | Q>* | No | Ensembl | |
| rs1342545757 | 3032 | Q>R | No |
TOPMed gnomAD |
|
| rs769087158 | 3033 | E>K | No |
ExAC gnomAD |
|
| rs1579868753 | 3034 | D>A | No | Ensembl | |
| rs1216528816 | 3034 | D>E | No |
TOPMed gnomAD |
|
| rs944561153 | 3035 | P>A | No | gnomAD | |
|
rs1283674675 RCV001774795 |
3036 | A>T | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs369820818 | 3037 | K>E | No |
ESP ExAC TOPMed gnomAD |
|
|
RCV000514829 CA3208045 rs55900671 |
3037 | K>M | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs773355648 COSM340726 |
3038 | R>H | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
| rs1450897777 | 3039 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs763039654 | 3040 | S>L | No |
ExAC TOPMed gnomAD |
|
| rs759482240 | 3042 | A>E | No |
ExAC TOPMed gnomAD |
|
| rs1757848392 | 3042 | A>T | No | TOPMed | |
|
rs759482240 COSM20792 |
3042 | A>V | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs1209351102 | 3043 | L>R | No | gnomAD | |
| rs1459826824 | 3044 | A>T | No |
TOPMed gnomAD |
|
| rs375059973 | 3044 | A>V | No |
ESP TOPMed gnomAD |
|
| rs1469268341 | 3045 | L>F | No | gnomAD | |
| rs1409155730 | 3046 | Q>R | No |
TOPMed gnomAD |
|
| rs936112257 | 3049 | W>C | No | Ensembl | |
| rs1175097357 | 3051 | Q>E | No | gnomAD | |
| rs753468657 | 3053 | G>A | No | ExAC | |
| rs753468657 | 3053 | G>D | No | ExAC | |
|
rs774938828 RCV001311644 |
3053 | G>S | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs753468657 | 3053 | G>V | No | ExAC | |
| rs778582494 | 3055 | G>C | No |
ExAC TOPMed gnomAD |
|
| rs778582494 | 3055 | G>S | No |
ExAC TOPMed gnomAD |
|
| rs1234157497 | 3056 | R>K | No | Ensembl | |
| rs755538582 | 3057 | S>N | No |
ExAC TOPMed gnomAD |
|
| rs755538582 | 3057 | S>T | No |
ExAC TOPMed gnomAD |
|
|
RCV001582323 rs201718893 |
3058 | T>M | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1654436134 | 3059 | G>S | No |
TOPMed gnomAD |
|
| rs774398593 | 3062 | D>N | No |
ExAC TOPMed gnomAD |
|
| rs1757856687 | 3063 | T>A | No | Ensembl | |
| rs759676716 | 3063 | T>M | No |
ExAC TOPMed gnomAD |
|
| rs775335606 | 3067 | T>A | No |
ExAC gnomAD |
|
| rs760482451 | 3068 | S>A | No |
ExAC gnomAD |
|
| rs1198016867 | 3068 | S>F | No | gnomAD | |
| rs1561577685 | 3070 | I>T | No | Ensembl | |
| rs202157396 | 3072 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs1757860245 | 3072 | R>W | No | TOPMed | |
| rs761546634 | 3073 | R>C | No |
ExAC gnomAD |
|
|
COSM3852392 COSM301075 |
3073 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1757861463 | 3074 | K>E | No | TOPMed | |
| rs1306415027 | 3075 | H>R | No | gnomAD | |
| TCGA novel | 3076 | Q>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1579869515 | 3079 | V>A | No | Ensembl | |
|
COSM3919238 COSM3919237 |
3080 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs768021053 | 3080 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs1275365657 | 3082 | I>V | No | gnomAD | |
|
RCV000966937 rs61740945 |
3083 | R>C | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs200154985 | 3083 | R>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs61740945 | 3083 | R>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1276372590 | 3084 | S>G | No | gnomAD | |
| rs950436735 | 3084 | S>N | No | Ensembl | |
| rs950436735 | 3084 | S>T | No | Ensembl | |
|
RCV001531413 rs778010546 |
3086 | K>N | No |
ClinVar ExAC dbSNP gnomAD |
|
| rs1157396902 | 3088 | F>L | No | gnomAD | |
|
rs983114845 RCV001799913 |
3088 | F>L | No |
ClinVar Ensembl dbSNP |
|
| rs749709896 | 3089 | L>P | No |
ExAC gnomAD |
|
| rs757462970 | 3090 | Q>* | No |
ExAC gnomAD |
|
| rs1201715859 | 3090 | Q>H | No |
TOPMed gnomAD |
|
| rs745922335 | 3092 | R>G | No |
ExAC gnomAD |
|
| rs2126725850 | 3092 | R>M | No | Ensembl | |
| rs772062902 | 3092 | R>S | No |
ExAC gnomAD |
|
| rs1430703650 | 3094 | L>P | No | gnomAD | |
| rs746938246 | 3095 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs746938246 | 3095 | P>R | No |
ExAC TOPMed gnomAD |
|
|
rs2126725906 RCV002265228 |
3097 | V>D | No |
ClinVar Ensembl dbSNP |
2 associated diseases with O75962
[MIM: 617061]: Intellectual developmental disorder, autosomal dominant 44, with microcephaly (MRD44)
A disorder characterized by developmental delay, variable intellectual disability, distinctive facial features, and abnormalities of the fingers. Most patients also have microcephaly. . Note=The disease may be caused by variants affecting the gene represented in this entry.
[MIM: 618825]: Intellectual developmental disorder, autosomal dominant 63, with macrocephaly (MRD63)
An autosomal dominant form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD63 is characterized by moderate to severe impaired intellectual development with poor or absent speech, global developmental delay, and variable behavioral abnormalities. Variable dysmorphic features are preset in half of the patients. . Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A disorder characterized by developmental delay, variable intellectual disability, distinctive facial features, and abnormalities of the fingers. Most patients also have microcephaly. . Note=The disease may be caused by variants affecting the gene represented in this entry.
- An autosomal dominant form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD63 is characterized by moderate to severe impaired intellectual development with poor or absent speech, global developmental delay, and variable behavioral abnormalities. Variable dysmorphic features are preset in half of the patients. . Note=The disease is caused by variants affecting the gene represented in this entry.
24 regional properties for O75962
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Dbl homology (DH) domain | 1292 - 1467 | IPR000219-1 |
| domain | Dbl homology (DH) domain | 1969 - 2145 | IPR000219-2 |
| domain | Protein kinase domain | 2796 - 3050 | IPR000719 |
| domain | CRAL-TRIO lipid binding domain | 65 - 211 | IPR001251 |
| domain | SH3 domain | 1656 - 1721 | IPR001452-1 |
| domain | SH3 domain | 2551 - 2623 | IPR001452-2 |
| domain | Pleckstrin homology domain | 1479 - 1593 | IPR001849-1 |
| domain | Pleckstrin homology domain | 2157 - 2273 | IPR001849-2 |
| repeat | Spectrin repeat | 341 - 444 | IPR002017-1 |
| repeat | Spectrin repeat | 570 - 670 | IPR002017-2 |
| repeat | Spectrin repeat | 909 - 1006 | IPR002017-3 |
| repeat | Spectrin repeat | 1140 - 1243 | IPR002017-4 |
| domain | Immunoglobulin subtype 2 | 2697 - 2766 | IPR003598 |
| domain | Immunoglobulin subtype | 2691 - 2777 | IPR003599 |
| domain | Immunoglobulin-like domain | 2685 - 2775 | IPR007110 |
| active_site | Serine/threonine-protein kinase, active site | 2911 - 2923 | IPR008271 |
| domain | Immunoglobulin I-set | 2685 - 2776 | IPR013098 |
| repeat | Spectrin/alpha-actinin | 221 - 566 | IPR018159-1 |
| repeat | Spectrin/alpha-actinin | 567 - 783 | IPR018159-2 |
| repeat | Spectrin/alpha-actinin | 787 - 1137 | IPR018159-3 |
| repeat | Spectrin/alpha-actinin | 1139 - 1246 | IPR018159-4 |
| domain | Kalirin/Triple functional domain protein, SH3 domain 1 | 1659 - 1718 | IPR028570 |
| domain | Kalirin/Triple functional domain protein, SH3 domain 2 | 2555 - 2613 | IPR047053 |
| domain | Kalirin/Triple functional domain protein, pleckstrin homology (PH) domain 1 | 1472 - 1594 | IPR047054 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.11.1 | Protein-serine/threonine kinases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| cell projection | A prolongation or process extending from a cell, e.g. a flagellum or axon. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| extrinsic component of membrane | The component of a membrane consisting of gene products and protein complexes that are loosely bound to one of its surfaces, but not integrated into the hydrophobic region. |
| glutamatergic synapse | A synapse that uses glutamate as a neurotransmitter. |
| postsynapse | The part of a synapse that is part of the post-synaptic cell. |
| presynaptic active zone | A specialized region of the plasma membrane and cell cortex of a presynaptic neuron; encompasses a region of the plasma membrane where synaptic vesicles dock and fuse, and a specialized cortical cytoskeletal matrix. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| guanyl-nucleotide exchange factor activity | Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions. |
| protein serine kinase activity | Catalysis of the reactions |
| protein serine/threonine kinase activity | Catalysis of the reactions |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| axon guidance | The chemotaxis process that directs the migration of an axon growth cone to a specific target site in response to a combination of attractive and repulsive cues. |
| negative regulation of fat cell differentiation | Any process that stops, prevents, or reduces the frequency, rate or extent of adipocyte differentiation. |
| neuron projection morphogenesis | The process in which the anatomical structures of a neuron projection are generated and organized. A neuron projection is any process extending from a neural cell, such as axons or dendrites. |
| phosphorylation | The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide. |
| postsynaptic modulation of chemical synaptic transmission | Any process, acting in the postsynapse that results in modulation of chemical synaptic transmission. |
| regulation of small GTPase mediated signal transduction | Any process that modulates the frequency, rate or extent of small GTPase mediated signal transduction. |
| transmembrane receptor protein tyrosine phosphatase signaling pathway | The series of molecular signals initiated by an extracellular ligand binding to a receptor on the surface of the target cell where the receptor possesses protein tyrosine phosphatase activity, and ending with the regulation of a downstream cellular process, e.g. transcription. |
107 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A4IFM7 | MYLK2 | Myosin light chain kinase 2, skeletal/cardiac muscle | Bos taurus (Bovine) | SS |
| Q0V7M1 | PSKH1 | Serine/threonine-protein kinase H1 | Bos taurus (Bovine) | SS |
| Q0VD22 | STK33 | Serine/threonine-protein kinase 33 | Bos taurus (Bovine) | PR |
| Q96NX5 | CAMK1G | Calcium/calmodulin-dependent protein kinase type 1G | Homo sapiens (Human) | SS |
| O15075 | DCLK1 | Serine/threonine-protein kinase DCLK1 | Homo sapiens (Human) | EV |
| Q14012 | CAMK1 | Calcium/calmodulin-dependent protein kinase type 1 | Homo sapiens (Human) | EV |
| Q9UIK4 | DAPK2 | Death-associated protein kinase 2 | Homo sapiens (Human) | EV |
| O94768 | STK17B | Serine/threonine-protein kinase 17B | Homo sapiens (Human) | PR |
| Q86YV6 | MYLK4 | Myosin light chain kinase family member 4 | Homo sapiens (Human) | SS |
| Q16566 | CAMK4 | Calcium/calmodulin-dependent protein kinase type IV | Homo sapiens (Human) | SS |
| P11801 | PSKH1 | Serine/threonine-protein kinase H1 | Homo sapiens (Human) | SS |
| Q8N568 | DCLK2 | Serine/threonine-protein kinase DCLK2 | Homo sapiens (Human) | PR |
| Q9UEE5 | STK17A | Serine/threonine-protein kinase 17A | Homo sapiens (Human) | SS |
| Q9H1R3 | MYLK2 | Myosin light chain kinase 2, skeletal/cardiac muscle | Homo sapiens (Human) | EV |
| Q32MK0 | MYLK3 | Myosin light chain kinase 3 | Homo sapiens (Human) | SS |
| Q8WWF8 | CAPSL | Calcyphosin-like protein | Homo sapiens (Human) | PR |
| P53355 | DAPK1 | Death-associated protein kinase 1 | Homo sapiens (Human) | EV |
| Q6P2M8 | PNCK | Calcium/calmodulin-dependent protein kinase type 1B | Homo sapiens (Human) | SS |
| Q9BYT3 | STK33 | Serine/threonine-protein kinase 33 | Homo sapiens (Human) | PR |
| Q8NCB2 | CAMKV | CaM kinase-like vesicle-associated protein | Homo sapiens (Human) | SS |
| O43293 | DAPK3 | Death-associated protein kinase 3 | Homo sapiens (Human) | PR |
| Q8IU85 | CAMK1D | Calcium/calmodulin-dependent protein kinase type 1D | Homo sapiens (Human) | SS |
| Q86YR7 | MCF2L2 | Probable guanine nucleotide exchange factor MCF2L2 | Homo sapiens (Human) | SS |
| O60229 | KALRN | Kalirin | Homo sapiens (Human) | SS |
| Q86VW2 | ARHGEF25 | Rho guanine nucleotide exchange factor 25 | Homo sapiens (Human) | EV |
| P10911 | MCF2 | Proto-oncogene DBL | Homo sapiens (Human) | EV |
| O15068 | MCF2L | Guanine nucleotide exchange factor DBS | Homo sapiens (Human) | SS |
| Q9QYK9 | Pnck | Calcium/calmodulin-dependent protein kinase type 1B | Mus musculus (Mouse) | PR |
| Q91VB2 | Camk1g | Calcium/calmodulin-dependent protein kinase type 1G | Mus musculus (Mouse) | SS |
| Q8BG48 | Stk17b | Serine/threonine-protein kinase 17B | Mus musculus (Mouse) | PR |
| Q8VCR8 | Mylk2 | Myosin light chain kinase 2, skeletal/cardiac muscle | Mus musculus (Mouse) | SS |
| Q6PGN3 | Dclk2 | Serine/threonine-protein kinase DCLK2 | Mus musculus (Mouse) | PR |
| Q91YS8 | Camk1 | Calcium/calmodulin-dependent protein kinase type 1 | Mus musculus (Mouse) | SS |
| Q3UIZ8 | Mylk3 | Myosin light chain kinase 3 | Mus musculus (Mouse) | SS |
| Q8VDF3 | Dapk2 | Death-associated protein kinase 2 | Mus musculus (Mouse) | EV |
| Q6P8Y1 | Capsl | Calcyphosin-like protein | Mus musculus (Mouse) | PR |
| Q8BW96 | Camk1d | Calcium/calmodulin-dependent protein kinase type 1D | Mus musculus (Mouse) | SS |
| Q3UHL1 | Camkv | CaM kinase-like vesicle-associated protein | Mus musculus (Mouse) | SS |
| P08414 | Camk4 | Calcium/calmodulin-dependent protein kinase type IV | Mus musculus (Mouse) | SS |
| Q9JLM8 | Dclk1 | Serine/threonine-protein kinase DCLK1 | Mus musculus (Mouse) | SS |
| Q91YA2 | Pskh1 | Serine/threonine-protein kinase H1 | Mus musculus (Mouse) | SS |
| Q80YE7 | Dapk1 | Death-associated protein kinase 1 | Mus musculus (Mouse) | SS |
| Q62407 | Speg | Striated muscle-specific serine/threonine-protein kinase | Mus musculus (Mouse) | SS |
| Q924X7 | Stk33 | Serine/threonine-protein kinase 33 | Mus musculus (Mouse) | PR |
| O54784 | Dapk3 | Death-associated protein kinase 3 | Mus musculus (Mouse) | PR |
| Q64096 | Mcf2l | Guanine nucleotide exchange factor DBS | Mus musculus (Mouse) | SS |
| A2CG49 | Kalrn | Kalirin | Mus musculus (Mouse) | SS |
| Q0KL02 | Trio | Triple functional domain protein | Mus musculus (Mouse) | SS |
| Q7TNJ7 | Camk1g | Calcium/calmodulin-dependent protein kinase type 1G | Rattus norvegicus (Rat) | SS |
| P20689 | Mylk2 | Myosin light chain kinase 2, skeletal/cardiac muscle | Rattus norvegicus (Rat) | SS |
| Q91XS8 | Stk17b | Serine/threonine-protein kinase 17B | Rattus norvegicus (Rat) | PR |
| O08875 | Dclk1 | Serine/threonine-protein kinase DCLK1 | Rattus norvegicus (Rat) | PR |
| E9PT87 | Mylk3 | Myosin light chain kinase 3 | Rattus norvegicus (Rat) | SS |
| O70150 | Pnck | Calcium/calmodulin-dependent protein kinase type 1B | Rattus norvegicus (Rat) | PR |
| Q63092 | Camkv | CaM kinase-like vesicle-associated protein | Rattus norvegicus (Rat) | SS |
| Q63638 | Speg | Striated muscle-specific serine/threonine-protein kinase | Rattus norvegicus (Rat) | SS |
| O88764 | Dapk3 | Death-associated protein kinase 3 | Rattus norvegicus (Rat) | PR |
| P13234 | Camk4 | Calcium/calmodulin-dependent protein kinase type IV | Rattus norvegicus (Rat) | SS |
| Q63450 | Camk1 | Calcium/calmodulin-dependent protein kinase type 1 | Rattus norvegicus (Rat) | EV |
| P97924 | Kalrn | Kalirin | Rattus norvegicus (Rat) | SS |
| Q5MPA9 | Dclk2 | Serine/threonine-protein kinase DCLK2 | Rattus norvegicus (Rat) | PR |
| Q63406 | Mcf2l | Guanine nucleotide exchange factor DBS | Rattus norvegicus (Rat) | SS |
| F1M0Z1 | Trio | Triple functional domain protein | Rattus norvegicus (Rat) | SS |
| Q5VQQ5 | CPK2 | Calcium-dependent protein kinase 2 | Oryza sativa subsp. japonica (Rice) | SS |
| Q8LPZ7 | CPK3 | Calcium-dependent protein kinase 3 | Oryza sativa subsp. japonica (Rice) | SS |
| Q6K968 | CPK6 | Calcium-dependent protein kinase 6 | Oryza sativa subsp. japonica (Rice) | SS |
| P53684 | CPK7 | Calcium-dependent protein kinase 7 | Oryza sativa subsp japonica (Rice) | PR |
| Q75GE8 | CPK8 | Calcium-dependent protein kinase 8 | Oryza sativa subsp. japonica (Rice) | SS |
| Q6I5I8 | CPK16 | Calcium-dependent protein kinase 16 | Oryza sativa subsp. japonica (Rice) | SS |
| Q6AVM3 | CCAMK | Calcium and calcium/calmodulin-dependent serine/threonine-protein kinase | Oryza sativa subsp japonica (Rice) | PR |
| Q84SL0 | CPK20 | Calcium-dependent protein kinase 20 | Oryza sativa subsp. japonica (Rice) | SS |
| P53682 | CPK23 | Calcium-dependent protein kinase 23 | Oryza sativa subsp japonica (Rice) | PR |
| Q9TXJ0 | cmk-1 | Calcium/calmodulin-dependent protein kinase type 1 | Caenorhabditis elegans | PR |
| O44997 | dapk-1 | Death-associated protein kinase dapk-1 | Caenorhabditis elegans | SS |
| Q95QC4 | zyg-8 | Serine/threonine-protein kinase zyg-8 | Caenorhabditis elegans | PR |
| P28583 | Calcium-dependent protein kinase SK5 | Glycine max (Soybean) (Glycine hispida) | PR | |
| Q9M9V8 | CPK10 | Calcium-dependent protein kinase 10 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q39016 | CPK11 | Calcium-dependent protein kinase 11 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q9FX86 | CRK8 | CDPK-related kinase 8 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SSF8 | CPK30 | Calcium-dependent protein kinase 30 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q38872 | CPK6 | Calcium-dependent protein kinase 6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q7XJR9 | CPK16 | Calcium-dependent protein kinase 16 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SIQ7 | CPK24 | Calcium-dependent protein kinase 24 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SJ61 | CPK25 | Calcium-dependent protein kinase 25 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9ZV15 | CPK20 | Calcium-dependent protein kinase 20 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| P93759 | GK-1 | Calcium-dependent protein kinase 14 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8S8S2 | LPEAT2 | Lysophospholipid acyltransferase LPEAT2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q38870 | CPK2 | Calcium-dependent protein kinase 2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LJL9 | CRK2 | CDPK-related kinase 2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SG12 | CRK6 | CDPK-related kinase 6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SCS2 | CRK5 | CDPK-related kinase 5 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8W4I7 | CPK13 | Calcium-dependent protein kinase 13 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q6NLQ6 | CPK32 | Calcium-dependent protein kinase 32 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9ZSA4 | CPK27 | Calcium-dependent protein kinase 27 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q38869 | CPK4 | Calcium-dependent protein kinase 4 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q42479 | CPK3 | Calcium-dependent protein kinase 3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q1PE17 | CPK18 | Calcium-dependent protein kinase 18 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q06850 | CPK1 | Calcium-dependent protein kinase 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9FMP5 | CPK17 | Calcium-dependent protein kinase 17 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q38873 | CPK7 | Calcium-dependent protein kinase 7 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q3E9C0 | CPK34 | Calcium-dependent protein kinase 34 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q42438 | CPK8 | Calcium-dependent protein kinase 8 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q42396 | CPK12 | Calcium-dependent protein kinase 12 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q9FKW4 | CPK28 | Calcium-dependent protein kinase 28 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| A8C984 | mylk3 | Myosin light chain kinase 3 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| Q7SY49 | camkv | CaM kinase-like vesicle-associated protein | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| Q1LUA6 | trio | Triple functional domain protein | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSGSSGGAAA | PAASSGPAAA | ASAAGSGCGG | GAGEGAEEAA | KDLADIAAFF | RSGFRKNDEM |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KAMDVLPILK | EKVAYLSGGR | DKRGGPILTF | PARSNHDRIR | QEDLRRLISY | LACIPSEEVC |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KRGFTVIVDM | RGSKWDSIKP | LLKILQESFP | CCIHVALIIK | PDNFWQKQRT | NFGSSKFEFE |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TNMVSLEGLT | KVVDPSQLTP | EFDGCLEYNH | EEWIEIRVAF | EDYISNATHM | LSRLEELQDI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LAKKELPQDL | EGARNMIEEH | SQLKKKVIKA | PIEDLDLEGQ | KLLQRIQSSE | SFPKKNSGSG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| NADLQNLLPK | VSTMLDRLHS | TRQHLHQMWH | VRKLKLDQCF | QLRLFEQDAE | KMFDWITHNK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| GLFLNSYTEI | GTSHPHAMEL | QTQHNHFAMN | CMNVYVNINR | IMSVANRLVE | SGHYASQQIR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| QIASQLEQEW | KAFAAALDER | STLLDMSSIF | HQKAEKYMSN | VDSWCKACGE | VDLPSELQDL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| EDAIHHHQGI | YEHITLAYSE | VSQDGKSLLD | KLQRPLTPGS | SDSLTASANY | SKAVHHVLDV |
| 550 | 560 | 570 | 580 | 590 | 600 |
| IHEVLHHQRQ | LENIWQHRKV | RLHQRLQLCV | FQQDVQQVLD | WIENHGEAFL | SKHTGVGKSL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| HRARALQKRH | EDFEEVAQNT | YTNADKLLEA | AEQLAQTGEC | DPEEIYQAAH | QLEDRIQDFV |
| 670 | 680 | 690 | 700 | 710 | 720 |
| RRVEQRKILL | DMSVSFHTHV | KELWTWLEEL | QKELLDDVYA | ESVEAVQDLI | KRFGQQQQTT |
| 730 | 740 | 750 | 760 | 770 | 780 |
| LQVTVNVIKE | GEDLIQQLRD | SAISSNKTPH | NSSINHIETV | LQQLDEAQSQ | MEELFQERKI |
| 790 | 800 | 810 | 820 | 830 | 840 |
| KLELFLQLRI | FERDAIDIIS | DLESWNDELS | QQMNDFDTED | LTIAEQRLQH | HADKALTMNN |
| 850 | 860 | 870 | 880 | 890 | 900 |
| LTFDVIHQGQ | DLLQYVNEVQ | ASGVELLCDR | DVDMATRVQD | LLEFLHEKQQ | ELDLAAEQHR |
| 910 | 920 | 930 | 940 | 950 | 960 |
| KHLEQCVQLR | HLQAEVKQVL | GWIRNGESML | NAGLITASSL | QEAEQLQREH | EQFQHAIEKT |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| HQSALQVQQK | AEAMLQANHY | DMDMIRDCAE | KVASHWQQLM | LKMEDRLKLV | NASVAFYKTS |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| EQVCSVLESL | EQEYKREEDW | CGGADKLGPN | SETDHVTPMI | SKHLEQKEAF | LKACTLARRN |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| ADVFLKYLHR | NSVNMPGMVT | HIKAPEQQVK | NILNELFQRE | NRVLHYWTMR | KRRLDQCQQY |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| VVFERSAKQA | LEWIHDNGEF | YLSTHTSTGS | SIQHTQELLK | EHEEFQITAK | QTKERVKLLI |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| QLADGFCEKG | HAHAAEIKKC | VTAVDKRYRD | FSLRMEKYRT | SLEKALGISS | DSNKSSKSLQ |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| LDIIPASIPG | SEVKLRDAAH | ELNEEKRKSA | RRKEFIMAEL | IQTEKAYVRD | LRECMDTYLW |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| EMTSGVEEIP | PGIVNKELII | FGNMQEIYEF | HNNIFLKELE | KYEQLPEDVG | HCFVTWADKF |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| QMYVTYCKNK | PDSTQLILEH | AGSYFDEIQQ | RHGLANSISS | YLIKPVQRIT | KYQLLLKELL |
| 1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
| TCCEEGKGEI | KDGLEVMLSV | PKRANDAMHL | SMLEGFDENI | ESQGELILQE | SFQVWDPKTL |
| 1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
| IRKGRERHLF | LFEMSLVFSK | EVKDSSGRSK | YLYKSKLFTS | ELGVTEHVEG | DPCKFALWVG |
| 1570 | 1580 | 1590 | 1600 | 1610 | 1620 |
| RTPTSDNKIV | LKASSIENKQ | DWIKHIREVI | QERTIHLKGA | LKEPIHIPKT | APATRQKGRR |
| 1630 | 1640 | 1650 | 1660 | 1670 | 1680 |
| DGEDLDSQGD | GSSQPDTISI | ASRTSQNTLD | SDKLSGGCEL | TVVIHDFTAC | NSNELTIRRG |
| 1690 | 1700 | 1710 | 1720 | 1730 | 1740 |
| QTVEVLERPH | DKPDWCLVRT | TDRSPAAEGL | VPCGSLCIAH | SRSSMEMEGI | FNHKDSLSVS |
| 1750 | 1760 | 1770 | 1780 | 1790 | 1800 |
| SNDASPPASV | ASLQPHMIGA | QSSPGPKRPG | NTLRKWLTSP | VRRLSSGKAD | GHVKKLAHKH |
| 1810 | 1820 | 1830 | 1840 | 1850 | 1860 |
| KKSREVRKSA | DAGSQKDSDD | SAATPQDETV | EERGRNEGLS | SGTLSKSSSS | GMQSCGEEEG |
| 1870 | 1880 | 1890 | 1900 | 1910 | 1920 |
| EEGADAVPLP | PPMAIQQHSL | LQPDSQDDKA | SSRLLVRPTS | SETPSAAELV | SAIEELVKSK |
| 1930 | 1940 | 1950 | 1960 | 1970 | 1980 |
| MALEDRPSSL | LVDQGDSSSP | SFNPSDNSLL | SSSSPIDEME | ERKSSSLKRR | HYVLQELVET |
| 1990 | 2000 | 2010 | 2020 | 2030 | 2040 |
| ERDYVRDLGY | VVEGYMALMK | EDGVPDDMKG | KDKIVFGNIH | QIYDWHRDFF | LGELEKCLED |
| 2050 | 2060 | 2070 | 2080 | 2090 | 2100 |
| PEKLGSLFVK | HERRLHMYIA | YCQNKPKSEH | IVSEYIDTFF | EDLKQRLGHR | LQLTDLLIKP |
| 2110 | 2120 | 2130 | 2140 | 2150 | 2160 |
| VQRIMKYQLL | LKDFLKYSKK | ASLDTSELER | AVEVMCIVPR | RCNDMMNVGR | LQGFDGKIVA |
| 2170 | 2180 | 2190 | 2200 | 2210 | 2220 |
| QGKLLLQDTF | LVTDQDAGLL | PRCRERRIFL | FEQIVIFSEP | LDKKKGFSMP | GFLFKNSIKV |
| 2230 | 2240 | 2250 | 2260 | 2270 | 2280 |
| SCLCLEENVE | NDPCKFALTS | RTGDVVETFI | LHSSSPSVRQ | TWIHEINQIL | ENQRNFLNAL |
| 2290 | 2300 | 2310 | 2320 | 2330 | 2340 |
| TSPIEYQRNH | SGGGGGGGSG | GSGGGGGSGG | GGAPSGGSGH | SGGPSSCGGA | PSTSRSRPSR |
| 2350 | 2360 | 2370 | 2380 | 2390 | 2400 |
| IPQPVRHHPP | VLVSSAASSQ | AEADKMSGTS | TPGPSLPPPG | AAPEAGPSAP | SRRPPGADAE |
| 2410 | 2420 | 2430 | 2440 | 2450 | 2460 |
| GSEREAEPIP | KMKVLESPRK | GAANASGSSP | DAPAKDARAS | LGTLPLGKPR | AGAASPLNSP |
| 2470 | 2480 | 2490 | 2500 | 2510 | 2520 |
| LSSAVPSLGK | EPFPPSSPLQ | KGGSFWSSIP | ASPASRPGSF | TFPGDSDSLQ | RQTPRHAAPG |
| 2530 | 2540 | 2550 | 2560 | 2570 | 2580 |
| KDTDRMSTCS | SASEQSVQST | QSNGSESSSS | SNISTMLVTH | DYTAVKEDEI | NVYQGEVVQI |
| 2590 | 2600 | 2610 | 2620 | 2630 | 2640 |
| LASNQQNMFL | VFRAATDQCP | AAEGWIPGFV | LGHTSAVIVE | NPDGTLKKST | SWHTALRLRK |
| 2650 | 2660 | 2670 | 2680 | 2690 | 2700 |
| KSEKKDKDGK | REGKLENGYR | KSREGLSNKV | SVKLLNPNYI | YDVPPEFVIP | LSEVTCETGE |
| 2710 | 2720 | 2730 | 2740 | 2750 | 2760 |
| TVVLRCRVCG | RPKASITWKG | PEHNTLNNDG | HYSISYSDLG | EATLKIVGVT | TEDDGIYTCI |
| 2770 | 2780 | 2790 | 2800 | 2810 | 2820 |
| AVNDMGSASS | SASLRVLGPG | MDGIMVTWKD | NFDSFYSEVA | ELGRGRFSVV | KKCDQKGTKR |
| 2830 | 2840 | 2850 | 2860 | 2870 | 2880 |
| AVATKFVNKK | LMKRDQVTHE | LGILQSLQHP | LLVGLLDTFE | TPTSYILVLE | MADQGRLLDC |
| 2890 | 2900 | 2910 | 2920 | 2930 | 2940 |
| VVRWGSLTEG | KIRAHLGEVL | EAVRYLHNCR | IAHLDLKPEN | ILVDESLAKP | TIKLADFGDA |
| 2950 | 2960 | 2970 | 2980 | 2990 | 3000 |
| VQLNTTYYIH | QLLGNPEFAA | PEIILGNPVS | LTSDTWSVGV | LTYVLLSGVS | PFLDDSVEET |
| 3010 | 3020 | 3030 | 3040 | 3050 | 3060 |
| CLNICRLDFS | FPDDYFKGVS | QKAKEFVCFL | LQEDPAKRPS | AALALQEQWL | QAGNGRSTGV |
| 3070 | 3080 | 3090 | |||
| LDTSRLTSFI | ERRKHQNDVR | PIRSIKNFLQ | SRLLPRV |