CleftGeneDB-Search

Gene: DICER1

Basic information

Tag	Content
Uniprot ID	Q9UPY3; A7E2D3; B3KRG4; E0AD28; O95943; Q9UQ02;
Entrez ID	23405
Genbank protein ID	CAB38857.2; ADK25182.1; BAA76772.2; EAW81596.1; BAA78691.1; BAG52376.1; AAI50288.1;
Genbank nucleotide ID	NM_001291628.1; XM_011536599.1; NM_001271282.2; XM_011536602.2; NM_177438.2; NM_001195573.1; XM_017021121.1; XM_011536601.2; NM_030621.4; XM_017021120.1; XM_011536600.2;
Ensembl protein ID	ENSP00000444719; ENSP00000435681; ENSP00000343745; ENSP00000376783; ENSP00000451041; ENSP00000437256;
Ensembl nucleotide ID	ENSG00000100697
Gene name	Endoribonuclease Dicer
Gene symbol	DICER1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	28232668
Functional description	Double-stranded RNA (dsRNA) endoribonuclease playing a central role in short dsRNA-mediated post-transcriptional gene silencing. Cleaves naturally occurring long dsRNAs and short hairpin pre-microRNAs (miRNA) into fragments of twenty-one to twenty-three nucleotides with 3' overhang of two nucleotides, producing respectively short interfering RNAs (siRNA) and mature microRNAs. SiRNAs and miRNAs serve as guide to direct the RNA-induced silencing complex (RISC) to complementary RNAs to degrade them or prevent their translation. Gene silencing mediated by siRNAs, also called RNA interference, controls the elimination of transcripts from mobile and repetitive DNA elements of the genome but also the degradation of exogenous RNA of viral origin for instance. The miRNA pathway on the other side is a mean to specifically regulate the expression of target genes.
Sequence	MKSPALQPLS MAGLQLMTPA SSPMGPFFGL PWQQEAIHDN IYTPRKYQVE LLEAALDHNT 60 IVCLNTGSGK TFIAVLLTKE LSYQIRGDFS RNGKRTVFLV NSANQVAQQV SAVRTHSDLK 120 VGEYSNLEVN ASWTKERWNQ EFTKHQVLIM TCYVALNVLK NGYLSLSDIN LLVFDECHLA 180 ILDHPYREIM KLCENCPSCP RILGLTASIL NGKCDPEELE EKIQKLEKIL KSNAETATDL 240 VVLDRYTSQP CEIVVDCGPF TDRSGLYERL LMELEEALNF INDCNISVHS KERDSTLISK 300 QILSDCRAVL VVLGPWCADK VAGMMVRELQ KYIKHEQEEL HRKFLLFTDT FLRKIHALCE 360 EHFSPASLDL KFVTPKVIKL LEILRKYKPY ERQQFESVEW YNNRNQDNYV SWSDSEDDDE 420 DEEIEEKEKP ETNFPSPFTN ILCGIIFVER RYTAVVLNRL IKEAGKQDPE LAYISSNFIT 480 GHGIGKNQPR NKQMEAEFRK QEEVLRKFRA HETNLLIATS IVEEGVDIPK CNLVVRFDLP 540 TEYRSYVQSK GRARAPISNY IMLADTDKIK SFEEDLKTYK AIEKILRNKC SKSVDTGETD 600 IDPVMDDDDV FPPYVLRPDD GGPRVTINTA IGHINRYCAR LPSDPFTHLA PKCRTRELPD 660 GTFYSTLYLP INSPLRASIV GPPMSCVRLA ERVVALICCE KLHKIGELDD HLMPVGKETV 720 KYEEELDLHD EEETSVPGRP GSTKRRQCYP KAIPECLRDS YPRPDQPCYL YVIGMVLTTP 780 LPDELNFRRR KLYPPEDTTR CFGILTAKPI PQIPHFPVYT RSGEVTISIE LKKSGFMLSL 840 QMLELITRLH QYIFSHILRL EKPALEFKPT DADSAYCVLP LNVVNDSSTL DIDFKFMEDI 900 EKSEARIGIP STKYTKETPF VFKLEDYQDA VIIPRYRNFD QPHRFYVADV YTDLTPLSKF 960 PSPEYETFAE YYKTKYNLDL TNLNQPLLDV DHTSSRLNLL TPRHLNQKGK ALPLSSAEKR 1020 KAKWESLQNK QILVPELCAI HPIPASLWRK AVCLPSILYR LHCLLTAEEL RAQTASDAGV 1080 GVRSLPADFR YPNLDFGWKK SIDSKSFISI SNSSSAENDN YCKHSTIVPE NAAHQGANRT 1140 SSLENHDQMS VNCRTLLSES PGKLHVEVSA DLTAINGLSY NQNLANGSYD LANRDFCQGN 1200 QLNYYKQEIP VQPTTSYSIQ NLYSYENQPQ PSDECTLLSN KYLDGNANKS TSDGSPVMAV 1260 MPGTTDTIQV LKGRMDSEQS PSIGYSSRTL GPNPGLILQA LTLSNASDGF NLERLEMLGD 1320 SFLKHAITTY LFCTYPDAHE GRLSYMRSKK VSNCNLYRLG KKKGLPSRMV VSIFDPPVNW 1380 LPPGYVVNQD KSNTDKWEKD EMTKDCMLAN GKLDEDYEEE DEEEESLMWR APKEEADYED 1440 DFLEYDQEHI RFIDNMLMGS GAFVKKISLS PFSTTDSAYE WKMPKKSSLG SMPFSSDFED 1500 FDYSSWDAMC YLDPSKAVEE DDFVVGFWNP SEENCGVDTG KQSISYDLHT EQCIADKSIA 1560 DCVEALLGCY LTSCGERAAQ LFLCSLGLKV LPVIKRTDRE KALCPTRENF NSQQKNLSVS 1620 CAAASVASSR SSVLKDSEYG CLKIPPRCMF DHPDADKTLN HLISGFENFE KKINYRFKNK 1680 AYLLQAFTHA SYHYNTITDC YQRLEFLGDA ILDYLITKHL YEDPRQHSPG VLTDLRSALV 1740 NNTIFASLAV KYDYHKYFKA VSPELFHVID DFVQFQLEKN EMQGMDSELR RSEEDEEKEE 1800 DIEVPKAMGD IFESLAGAIY MDSGMSLETV WQVYYPMMRP LIEKFSANVP RSPVRELLEM 1860 EPETAKFSPA ERTYDGKVRV TVEVVGKGKF KGVGRSYRIA KSAAARRALR SLKANQPQVP 1920 NS 1922

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
2EB1
4NGB
4NGC
4NGD
4NGF
4NGG
4NH3
4NH5
4NH6
4NHA
4WYQ
5ZAK
5ZAL
5ZAM
2EB1
4NGD

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	DICER1	480426	E2RIN4		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	DICER1	102175335	A0A452ESG3		Capra hircus	Prediction	More>>
1:1 ortholog	DICER1	23405	Q9UPY3		Homo sapiens	Publication	More>>
1:1 ortholog	Dicer1		Q8R418	CPO	Mus musculus	Publication	More>>
1:1 ortholog	DICER1	453137	H2R458		Pan troglodytes	Prediction	More>>
1:1 ortholog	DICER1		A0A287A263		Sus scrofa	Prediction	More>>
1:1 ortholog	Dicer1	299284	E9PU15		Rattus norvegicus	Prediction	More>>
1:1 ortholog	dicer1	324724	Q6TV19		Danio rerio	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
DICER1	rs1243572A>G	GWAS	28232668
DICER1	rs1243573A>C	GWAS	28232668

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
RCV000227003	p.Met1Thr	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133457A>G	ClinVar
RCV000562389	p.Met1Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95133457A>G	ClinVar
rs1416298002	p.Lys2Asn	missense variant	-	NC_000014.9:g.95133453T>G	gnomAD
rs772433602	p.Pro4Ser	missense variant	-	NC_000014.9:g.95133449G>A	ExAC,TOPMed,gnomAD
rs777350127	p.Leu6Phe	missense variant	-	NC_000014.9:g.95133441C>A	ExAC,TOPMed,gnomAD
RCV000206043	p.Gln7Arg	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133439T>C	ClinVar
rs117358479	p.Gln7Arg	missense variant	-	NC_000014.9:g.95133439T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs748788519	p.Pro8Ser	missense variant	-	NC_000014.9:g.95133437G>A	ExAC,gnomAD
rs1482976224	p.Leu9Phe	missense variant	-	NC_000014.9:g.95133434G>A	TOPMed,gnomAD
RCV000654432	p.Leu9Phe	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133434G>A	ClinVar
RCV000476538	p.Gly13Asp	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133421C>T	ClinVar
rs1060503610	p.Gly13Asp	missense variant	-	NC_000014.9:g.95133421C>T	-
rs779753946	p.Leu14Met	missense variant	-	NC_000014.9:g.95133419G>T	ExAC,gnomAD
rs1555376589	p.Gln15Arg	missense variant	-	NC_000014.9:g.95133415T>C	-
RCV000654403	p.Gln15Arg	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133415T>C	ClinVar
rs1555376587	p.Met17Leu	missense variant	-	NC_000014.9:g.95133410T>G	-
RCV000654398	p.Met17Leu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133410T>G	ClinVar
RCV000468835	p.Pro19Thr	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133404G>T	ClinVar
RCV000120632	p.Pro19Leu	missense variant	-	NC_000014.9:g.95133403G>A	ClinVar
rs587778227	p.Pro19Leu	missense variant	-	NC_000014.9:g.95133403G>A	gnomAD
rs1060503638	p.Pro19Thr	missense variant	-	NC_000014.9:g.95133404G>T	-
RCV000120633	p.Ala20Val	missense variant	-	NC_000014.9:g.95133400G>A	ClinVar
rs147660793	p.Ala20Val	missense variant	-	NC_000014.9:g.95133400G>A	ESP,ExAC,TOPMed,gnomAD
rs1555376579	p.Ala20Thr	missense variant	-	NC_000014.9:g.95133401C>T	-
RCV000654440	p.Ala20Thr	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133401C>T	ClinVar
rs1289924579	p.Ser21Phe	missense variant	-	NC_000014.9:g.95133397G>A	gnomAD
RCV000461365	p.Ser22Leu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133394G>A	ClinVar
rs1060503626	p.Ser22Leu	missense variant	-	NC_000014.9:g.95133394G>A	gnomAD
rs1555376567	p.Pro23Ser	missense variant	-	NC_000014.9:g.95133392G>A	-
RCV000531961	p.Pro23Ser	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133392G>A	ClinVar
RCV000226545	p.Met24Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133389T>C	ClinVar
RCV000804944	p.Met24Ile	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133387C>T	ClinVar
RCV000572085	p.Met24Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95133387C>T	ClinVar
rs1349780844	p.Met24Thr	missense variant	-	NC_000014.9:g.95133388A>G	gnomAD
rs751520020	p.Met24Ile	missense variant	-	NC_000014.9:g.95133387C>T	ExAC,gnomAD
rs751520020	p.Met24Ile	missense variant	-	NC_000014.9:g.95133387C>A	ExAC,gnomAD
RCV000563130	p.Met24Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95133389T>C	ClinVar
rs754439528	p.Met24Val	missense variant	-	NC_000014.9:g.95133389T>C	TOPMed
RCV000561019	p.Gly25Asp	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95133385C>T	ClinVar
rs1555376566	p.Gly25Asp	missense variant	-	NC_000014.9:g.95133385C>T	-
RCV000565379	p.Pro26Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95133382G>A	ClinVar
RCV000537230	p.Pro26Leu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133382G>A	ClinVar
RCV000761003	p.Pro26Leu	missense variant	Medulloblastoma (MDB)	NC_000014.9:g.95133382G>A	ClinVar
rs201358110	p.Pro26Leu	missense variant	-	NC_000014.9:g.95133382G>A	1000Genomes,ExAC,gnomAD
RCV000654388	p.Phe27Leu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133378G>C	ClinVar
rs1555376563	p.Phe27Leu	missense variant	-	NC_000014.9:g.95133378G>C	-
rs61729796	p.Phe28Cys	missense variant	-	NC_000014.9:g.95133376A>C	ExAC,TOPMed,gnomAD
RCV000460921	p.Phe28Ser	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133376A>G	ClinVar
rs61729796	p.Phe28Ser	missense variant	-	NC_000014.9:g.95133376A>G	ExAC,TOPMed,gnomAD
rs1333617601	p.Phe28Val	missense variant	-	NC_000014.9:g.95133377A>C	gnomAD
rs766491650	p.Gly29Ala	missense variant	-	NC_000014.9:g.95133373C>G	ExAC,gnomAD
COSM959284	p.Trp32Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95133365A>G	NCI-TCGA Cosmic
rs773456851	p.Gln33His	missense variant	-	NC_000014.9:g.95133360T>A	ExAC,TOPMed,gnomAD
RCV000654373	p.Gln34Ter	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133359G>A	ClinVar
rs1555376548	p.Gln34Ter	stop gained	-	NC_000014.9:g.95133359G>A	-
RCV000471095	p.Ile37Phe	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133350T>A	ClinVar
rs772381832	p.Ile37Phe	missense variant	-	NC_000014.9:g.95133350T>A	ExAC,TOPMed,gnomAD
rs748564911	p.Asp39Gly	missense variant	-	NC_000014.9:g.95133343T>C	ExAC,gnomAD
rs1482582825	p.Asn40Asp	missense variant	-	NC_000014.9:g.95133341T>C	gnomAD
RCV000497812	p.Thr43Arg	missense variant	-	NC_000014.9:g.95133331G>C	ClinVar
RCV000571554	p.Thr43Met	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95133331G>A	ClinVar
RCV000474678	p.Thr43Met	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133331G>A	ClinVar
rs367797765	p.Thr43Met	missense variant	-	NC_000014.9:g.95133331G>A	ESP,ExAC,TOPMed,gnomAD
rs367797765	p.Thr43Arg	missense variant	-	NC_000014.9:g.95133331G>C	ESP,ExAC,TOPMed,gnomAD
COSM1371858	p.Arg45Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95133325C>T	NCI-TCGA Cosmic
RCV000699235	p.Lys46Gln	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95133323T>G	ClinVar
RCV000456605	p.Val49Ala	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132676A>G	ClinVar
RCV000563819	p.Val49Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95132677C>G	ClinVar
rs1060503624	p.Val49Ala	missense variant	-	NC_000014.9:g.95132676A>G	-
rs1555376413	p.Val49Leu	missense variant	-	NC_000014.9:g.95132677C>G	-
NCI-TCGA novel	p.Ala54Thr	missense variant	-	NC_000014.9:g.95132662C>T	NCI-TCGA
rs769164427	p.Ala55Pro	missense variant	-	NC_000014.9:g.95132659C>G	ExAC,gnomAD
rs769164427	p.Ala55Thr	missense variant	-	NC_000014.9:g.95132659C>T	ExAC,gnomAD
RCV000539270	p.Ala55Thr	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132659C>T	ClinVar
rs570871959	p.Asp57His	missense variant	-	NC_000014.9:g.95132653C>G	1000Genomes,ExAC
NCI-TCGA novel	p.Asp57Asn	missense variant	-	NC_000014.9:g.95132653C>T	NCI-TCGA
RCV000552718	p.His58Asp	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132650G>C	ClinVar
rs1555376409	p.His58Asp	missense variant	-	NC_000014.9:g.95132650G>C	-
rs1368593353	p.Asn59Asp	missense variant	-	NC_000014.9:g.95132647T>C	gnomAD
RCV000230149	p.Thr60Ile	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132643G>A	ClinVar
RCV000567350	p.Thr60Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95132643G>A	ClinVar
rs587778228	p.Thr60Ile	missense variant	-	NC_000014.9:g.95132643G>A	ExAC,TOPMed,gnomAD
RCV000458877	p.Ile61Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132641T>C	ClinVar
rs1060503646	p.Ile61Val	missense variant	-	NC_000014.9:g.95132641T>C	-
RCV000654380	p.Val62Ile	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132638C>T	ClinVar
rs746671039	p.Val62Ile	missense variant	-	NC_000014.9:g.95132638C>T	ExAC,TOPMed,gnomAD
RCV000531832	p.Leu64Phe	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132630T>A	ClinVar
rs1231822339	p.Leu64Phe	missense variant	-	NC_000014.9:g.95132630T>A	TOPMed
RCV000654470	p.Thr66Ala	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132626T>C	ClinVar
rs777362732	p.Thr66Ile	missense variant	-	NC_000014.9:g.95132625G>A	ExAC,gnomAD
rs1555376402	p.Thr66Ala	missense variant	-	NC_000014.9:g.95132626T>C	-
NCI-TCGA novel	p.Thr71Ile	missense variant	-	NC_000014.9:g.95132610G>A	NCI-TCGA
rs376657431	p.Thr71Arg	missense variant	-	NC_000014.9:g.95132610G>C	ESP,ExAC,TOPMed,gnomAD
rs1312551730	p.Ile73Thr	missense variant	-	NC_000014.9:g.95132604A>G	TOPMed
RCV000690532	p.Ala74Leu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132601_95132602delinsAA	ClinVar
rs202181696	p.Ala74Ser	missense variant	-	NC_000014.9:g.95132602C>A	1000Genomes,ExAC,gnomAD
rs200331768	p.Ala74Val	missense variant	-	NC_000014.9:g.95132601G>A	1000Genomes,ExAC,gnomAD
rs899822269	p.Val75Leu	missense variant	-	NC_000014.9:g.95132599C>A	TOPMed
NCI-TCGA novel	p.Val75Ala	missense variant	-	NC_000014.9:g.95132598A>G	NCI-TCGA
RCV000696264	p.Thr78Ala	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132590T>C	ClinVar
rs1249513421	p.Glu80Val	missense variant	-	NC_000014.9:g.95132583T>A	TOPMed
rs751813700	p.Ser82Tyr	missense variant	-	NC_000014.9:g.95132577G>T	ExAC,gnomAD
NCI-TCGA novel	p.Ser82IlePheSerTerUnkUnk	frameshift	-	NC_000014.9:g.95132576_95132579GGAC>-	NCI-TCGA
RCV000574980	p.Tyr83Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95132574T>C	ClinVar
rs373646414	p.Tyr83Cys	missense variant	-	NC_000014.9:g.95132574T>C	ESP,ExAC,TOPMed,gnomAD
RCV000231291	p.Tyr83Cys	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132574T>C	ClinVar
RCV000573094	p.Ile85Met	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95132567G>C	ClinVar
rs763422772	p.Ile85Met	missense variant	-	NC_000014.9:g.95132567G>C	ExAC,TOPMed,gnomAD
RCV000569742	p.Arg86Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95132566T>C	ClinVar
RCV000534037	p.Arg86Ter	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132566del	ClinVar
rs1555376374	p.Arg86Gly	missense variant	-	NC_000014.9:g.95132566T>C	-
rs775828379	p.Asp88Val	missense variant	-	NC_000014.9:g.95132559T>A	ExAC,TOPMed,gnomAD
RCV000472522	p.Asp88Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132559T>A	ClinVar
RCV000225966	p.Arg91Lys	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132550C>T	ClinVar
rs878855252	p.Arg91Lys	missense variant	-	NC_000014.9:g.95132550C>T	gnomAD
RCV000465833	p.Gly93Glu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132544C>T	ClinVar
RCV000564923	p.Gly93Glu	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95132544C>T	ClinVar
rs776219930	p.Gly93Glu	missense variant	-	NC_000014.9:g.95132544C>T	ExAC,gnomAD
RCV000558690	p.Arg95Ter	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132542_95132543dup	ClinVar
rs770567567	p.Thr96Met	missense variant	-	NC_000014.9:g.95132535G>A	ExAC,TOPMed,gnomAD
RCV000464977	p.Val97Ala	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95132532A>G	ClinVar
rs1060503582	p.Val97Ala	missense variant	-	NC_000014.9:g.95132532A>G	-
rs1390907504	p.Val100Gly	missense variant	-	NC_000014.9:g.95132523A>C	TOPMed
RCV000465807	p.Ala107Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131627G>A	ClinVar
rs1060503655	p.Ala107Val	missense variant	-	NC_000014.9:g.95131627G>A	-
RCV000688162	p.Gln108Arg	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131624T>C	ClinVar
COSM5576192	p.Gln108Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95131625G>C	NCI-TCGA Cosmic
rs1555376190	p.Val110Met	missense variant	-	NC_000014.9:g.95131619C>T	-
RCV000654424	p.Val110Met	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131619C>T	ClinVar
RCV000542109	p.Ala112Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131612G>A	ClinVar
rs1555376185	p.Ala112Val	missense variant	-	NC_000014.9:g.95131612G>A	-
rs1442952372	p.Asp118Val	missense variant	-	NC_000014.9:g.95131594T>A	TOPMed,gnomAD
rs557182925	p.Asp118Asn	missense variant	-	NC_000014.9:g.95131595C>T	1000Genomes,ExAC,gnomAD
rs1442952372	p.Asp118Ala	missense variant	-	NC_000014.9:g.95131594T>G	TOPMed,gnomAD
RCV000457510	p.Leu119Phe	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131592G>A	ClinVar
rs760049904	p.Leu119His	missense variant	-	NC_000014.9:g.95131591A>T	ExAC,gnomAD
rs1060503661	p.Leu119Phe	missense variant	-	NC_000014.9:g.95131592G>A	-
RCV000474331	p.Lys120Met	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131588T>A	ClinVar
RCV000765199	p.Lys120Met	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131588T>A	ClinVar
RCV000566901	p.Lys120Met	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95131588T>A	ClinVar
rs1060503608	p.Lys120Met	missense variant	-	NC_000014.9:g.95131588T>A	gnomAD
rs1482258814	p.Glu123Ter	stop gained	-	NC_000014.9:g.95131580C>A	gnomAD
NCI-TCGA novel	p.Tyr124Cys	missense variant	-	NC_000014.9:g.95131576T>C	NCI-TCGA
RCV000654365	p.Ser125Leu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131573G>A	ClinVar
rs377669634	p.Ser125Leu	missense variant	-	NC_000014.9:g.95131573G>A	ESP,ExAC,TOPMed,gnomAD
RCV000568690	p.Asn126Asp	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95131571T>C	ClinVar
RCV000803170	p.Asn126Asp	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131571T>C	ClinVar
RCV000464564	p.Asn126Ser	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131570T>C	ClinVar
rs1060503593	p.Asn126Ser	missense variant	-	NC_000014.9:g.95131570T>C	-
rs373734886	p.Asn126Asp	missense variant	-	NC_000014.9:g.95131571T>C	ESP,ExAC,TOPMed,gnomAD
RCV000559895	p.Leu127Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131568G>C	ClinVar
RCV000567723	p.Leu127Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95131568G>C	ClinVar
rs560739585	p.Leu127Val	missense variant	-	NC_000014.9:g.95131568G>C	ExAC,TOPMed,gnomAD
RCV000702359	p.Glu128Ala	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131564T>G	ClinVar
rs1345117803	p.Glu128Ala	missense variant	-	NC_000014.9:g.95131564T>G	TOPMed
rs774138190	p.Ala131Val	missense variant	-	NC_000014.9:g.95131555G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala131Pro	missense variant	-	NC_000014.9:g.95131556C>G	NCI-TCGA
RCV000554347	p.Glu136Ala	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131540T>G	ClinVar
rs768445477	p.Glu136Gln	missense variant	-	NC_000014.9:g.95131541C>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu136Ter	stop gained	-	NC_000014.9:g.95131541C>A	NCI-TCGA
rs1037879170	p.Glu136Ala	missense variant	-	NC_000014.9:g.95131540T>G	TOPMed,gnomAD
NCI-TCGA novel	p.Glu141Ter	stop gained	-	NC_000014.9:g.95131526C>A	NCI-TCGA
rs780014291	p.Phe142Leu	missense variant	-	NC_000014.9:g.95131521A>T	ExAC,gnomAD
RCV000458595	p.Thr143Ala	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131520T>C	ClinVar
rs1060503612	p.Thr143Ala	missense variant	-	NC_000014.9:g.95131520T>C	gnomAD
RCV000471774	p.Lys144Met	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131516T>A	ClinVar
RCV000654392	p.Lys144Asn	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95131515C>G	ClinVar
rs370784723	p.Lys144Asn	missense variant	-	NC_000014.9:g.95131515C>G	ESP,ExAC,TOPMed,gnomAD
rs1060503629	p.Lys144Met	missense variant	-	NC_000014.9:g.95131516T>A	-
rs747179239	p.His145Arg	missense variant	-	NC_000014.9:g.95131513T>C	ExAC,gnomAD
rs1473045432	p.His145Gln	missense variant	-	NC_000014.9:g.95131512G>C	gnomAD
COSM4840308	p.Val147Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95130191A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Val147Ile	missense variant	-	NC_000014.9:g.95130192C>T	NCI-TCGA
RCV000692554	p.Val147Phe	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130192C>A	ClinVar
RCV000463130	p.Ile149Thr	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130185A>G	ClinVar
rs549001286	p.Ile149Thr	missense variant	-	NC_000014.9:g.95130185A>G	1000Genomes,ExAC,gnomAD
RCV000809322	p.Met150Leu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130183T>A	ClinVar
RCV000568271	p.Met150Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95130183T>A	ClinVar
rs1447817443	p.Met150Val	missense variant	-	NC_000014.9:g.95130183T>C	gnomAD
rs1447817443	p.Met150Leu	missense variant	-	NC_000014.9:g.95130183T>A	gnomAD
rs769827245	p.Tyr153Cys	missense variant	-	NC_000014.9:g.95130173T>C	ExAC,TOPMed,gnomAD
RCV000524590	p.Val154Ter	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130172dup	ClinVar
RCV000227833	p.Ala155Thr	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130168C>T	ClinVar
rs745802492	p.Ala155Thr	missense variant	-	NC_000014.9:g.95130168C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu159Phe	missense variant	-	NC_000014.9:g.95130154C>G	NCI-TCGA
rs777839118	p.Lys160Glu	missense variant	-	NC_000014.9:g.95130153T>C	ExAC,gnomAD
rs373532001	p.Asn161Asp	missense variant	-	NC_000014.9:g.95130150T>C	ESP,ExAC
rs373532001	p.Asn161His	missense variant	-	NC_000014.9:g.95130150T>G	ESP,ExAC
RCV000494493	p.Gly162Asp	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95130146C>T	ClinVar
rs142815547	p.Gly162Asp	missense variant	-	NC_000014.9:g.95130146C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000205672	p.Tyr163Ter	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130142G>C	ClinVar
rs1274642595	p.Tyr163Asn	missense variant	-	NC_000014.9:g.95130144A>T	gnomAD
rs864622626	p.Tyr163Ter	stop gained	-	NC_000014.9:g.95130142G>C	-
rs1274642595	p.Tyr163His	missense variant	-	NC_000014.9:g.95130144A>G	gnomAD
RCV000476646	p.Ser165Pro	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130138A>G	ClinVar
RCV000568030	p.Ser165Pro	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95130138A>G	ClinVar
rs894664317	p.Ser165Pro	missense variant	-	NC_000014.9:g.95130138A>G	TOPMed
rs766984054	p.Asp175Gly	missense variant	-	NC_000014.9:g.95130107T>C	ExAC
RCV000654370	p.Glu176Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130104T>A	ClinVar
rs756586319	p.Glu176Val	missense variant	-	NC_000014.9:g.95130104T>A	ExAC,gnomAD
rs1177718322	p.Glu176Lys	missense variant	-	NC_000014.9:g.95130105C>T	TOPMed,gnomAD
rs201239474	p.His178Leu	missense variant	-	NC_000014.9:g.95130098T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs201239474	p.His178Arg	missense variant	-	NC_000014.9:g.95130098T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs375454363	p.Ala180Gly	missense variant	-	NC_000014.9:g.95130092G>C	ESP,ExAC,gnomAD
rs375454363	p.Ala180Val	missense variant	-	NC_000014.9:g.95130092G>A	ESP,ExAC,gnomAD
RCV000555663	p.Ala180Ter	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130096del	ClinVar
rs761253717	p.Ile181Val	missense variant	-	NC_000014.9:g.95130090T>C	ExAC,gnomAD
RCV000460261	p.Asp183Glu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130082G>C	ClinVar
rs1060503587	p.Asp183Glu	missense variant	-	NC_000014.9:g.95130082G>C	-
rs1170562259	p.Pro185Arg	missense variant	-	NC_000014.9:g.95130077G>C	gnomAD
RCV000543718	p.Arg187Gln	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130071C>T	ClinVar
RCV000654367	p.Arg187Gly	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130072G>C	ClinVar
rs775207591	p.Arg187Pro	missense variant	-	NC_000014.9:g.95130071C>G	ExAC,gnomAD
rs775207591	p.Arg187Gln	missense variant	-	NC_000014.9:g.95130071C>T	ExAC,gnomAD
rs763801533	p.Arg187Gly	missense variant	-	NC_000014.9:g.95130072G>C	ExAC,TOPMed,gnomAD
RCV000206588	p.Arg187Ter	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95130072G>A	ClinVar
rs763801533	p.Arg187Ter	stop gained	-	NC_000014.9:g.95130072G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu188Ter	stop gained	-	NC_000014.9:g.95130069C>A	NCI-TCGA
RCV000568748	p.Met190Lys	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95130062A>T	ClinVar
rs1555375918	p.Met190Lys	missense variant	-	NC_000014.9:g.95130062A>T	-
rs769477041	p.Met190Val	missense variant	-	NC_000014.9:g.95130063T>C	ExAC
rs1162746497	p.Lys191Arg	missense variant	-	NC_000014.9:g.95130059T>C	TOPMed
rs770842365	p.Asn195His	missense variant	-	NC_000014.9:g.95129623T>G	ExAC,gnomAD
RCV000458293	p.Asn195His	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129623T>G	ClinVar
rs1060503642	p.Pro197Leu	missense variant	-	NC_000014.9:g.95129616G>A	gnomAD
RCV000548749	p.Pro197Ser	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129617G>A	ClinVar
RCV000573122	p.Pro197Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95129617G>A	ClinVar
RCV000472039	p.Pro197Leu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129616G>A	ClinVar
rs375689793	p.Pro197Ala	missense variant	-	NC_000014.9:g.95129617G>C	ESP,TOPMed,gnomAD
rs375689793	p.Pro197Ser	missense variant	-	NC_000014.9:g.95129617G>A	ESP,TOPMed,gnomAD
rs1024665554	p.Ser198Leu	missense variant	-	NC_000014.9:g.95129613G>A	TOPMed
RCV000654448	p.Arg201Cys	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129605G>A	ClinVar
rs749484792	p.Arg201Pro	missense variant	-	NC_000014.9:g.95129604C>G	ExAC,TOPMed,gnomAD
rs774514314	p.Arg201Cys	missense variant	-	NC_000014.9:g.95129605G>A	ExAC,gnomAD
rs749484792	p.Arg201His	missense variant	-	NC_000014.9:g.95129604C>T	ExAC,TOPMed,gnomAD
rs774514314	p.Arg201Ser	missense variant	-	NC_000014.9:g.95129605G>T	ExAC,gnomAD
rs749484792	p.Arg201Leu	missense variant	-	NC_000014.9:g.95129604C>A	ExAC,TOPMed,gnomAD
rs1424652177	p.Ser208Phe	missense variant	-	NC_000014.9:g.95129583G>A	TOPMed
RCV000575811	p.Leu210Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95129577A>G	ClinVar
RCV000240938	p.del210del	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129577A>C	ClinVar
RCV000240938	p.Leu210Ter	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129577A>C	ClinVar
rs886037730	p.Leu210Ser	missense variant	-	NC_000014.9:g.95129577A>G	TOPMed
rs886037730	p.Leu210Ter	stop gained	-	NC_000014.9:g.95129577A>C	TOPMed
rs1392979238	p.Asn211Asp	missense variant	-	NC_000014.9:g.95129575T>C	TOPMed
rs781713298	p.Asp215Asn	missense variant	-	NC_000014.9:g.95129563C>T	ExAC,gnomAD
rs757700482	p.Pro216Thr	missense variant	-	NC_000014.9:g.95129560G>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro216Ser	missense variant	-	NC_000014.9:g.95129560G>A	NCI-TCGA
RCV000692066	p.Glu217Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129556T>A	ClinVar
NCI-TCGA novel	p.Glu217Asp	missense variant	-	NC_000014.9:g.95129555C>A	NCI-TCGA
RCV000474822	p.Glu218Lys	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129554C>T	ClinVar
COSM297364	p.Glu218Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.95129554C>A	NCI-TCGA Cosmic
rs747514493	p.Glu218Lys	missense variant	-	NC_000014.9:g.95129554C>T	ExAC,gnomAD
RCV000542050	p.Glu220Asp	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129546T>G	ClinVar
rs1555375819	p.Glu220Asp	missense variant	-	NC_000014.9:g.95129546T>G	-
RCV000814385	p.Glu221Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129544T>A	ClinVar
rs757925350	p.Glu221Val	missense variant	-	NC_000014.9:g.95129544T>A	ExAC,TOPMed,gnomAD
RCV000569381	p.Glu221Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95129544T>A	ClinVar
rs752322804	p.Lys222Glu	missense variant	-	NC_000014.9:g.95129542T>C	ExAC,gnomAD
COSM959282	p.Lys222Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95129540C>A	NCI-TCGA Cosmic
RCV000654408	p.Gln224Leu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129535T>A	ClinVar
rs1555375816	p.Gln224Leu	missense variant	-	NC_000014.9:g.95129535T>A	-
rs1445983492	p.Lys225Arg	missense variant	-	NC_000014.9:g.95129532T>C	gnomAD
rs764839440	p.Lys225Gln	missense variant	-	NC_000014.9:g.95129533T>G	ExAC
NCI-TCGA novel	p.Glu227Asp	missense variant	-	NC_000014.9:g.95129525C>A	NCI-TCGA
RCV000463769	p.Lys228Arg	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129523T>C	ClinVar
rs1060503659	p.Lys228Arg	missense variant	-	NC_000014.9:g.95129523T>C	-
NCI-TCGA novel	p.Leu230Ile	missense variant	-	NC_000014.9:g.95129518G>T	NCI-TCGA
rs754799308	p.Lys231Arg	missense variant	-	NC_000014.9:g.95129514T>C	ExAC,gnomAD
rs1465088683	p.Asn233Ser	missense variant	-	NC_000014.9:g.95129508T>C	gnomAD
rs760627991	p.Thr238Ala	missense variant	-	NC_000014.9:g.95129494T>C	ExAC,gnomAD
rs1555375788	p.Asp239Gly	missense variant	-	NC_000014.9:g.95129490T>C	-
RCV000654445	p.Asp239Gly	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129490T>C	ClinVar
rs1060503615	p.Leu240Val	missense variant	-	NC_000014.9:g.95129488G>C	-
RCV000460684	p.Leu240Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95129488G>C	ClinVar
rs1312732514	p.Val241Leu	missense variant	-	NC_000014.9:g.95129485C>A	TOPMed
rs1290563406	p.Val242Ile	missense variant	-	NC_000014.9:g.95129482C>T	gnomAD
rs764223602	p.Asp244Gly	missense variant	-	NC_000014.9:g.95129475T>C	ExAC,gnomAD
rs767605412	p.Arg245Ser	missense variant	-	NC_000014.9:g.95126748C>A	ExAC,gnomAD
COSM959281	p.Arg245Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95129472C>T	NCI-TCGA Cosmic
RCV000531119	p.Arg245Ser	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126748C>A	ClinVar
RCV000546158	p.Tyr246Cys	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126746T>C	ClinVar
rs775370673	p.Tyr246Cys	missense variant	-	NC_000014.9:g.95126746T>C	ExAC,TOPMed,gnomAD
rs775370673	p.Tyr246Phe	missense variant	-	NC_000014.9:g.95126746T>A	ExAC,TOPMed,gnomAD
RCV000560829	p.Thr247Ala	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126744T>C	ClinVar
rs369189695	p.Thr247Ala	missense variant	-	NC_000014.9:g.95126744T>C	ESP,ExAC,TOPMed,gnomAD
rs759633210	p.Ser248Thr	missense variant	-	NC_000014.9:g.95126741A>T	ExAC,gnomAD
RCV000463647	p.Ser248Thr	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126741A>T	ClinVar
RCV000240901	p.Gln249Ter	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126738G>A	ClinVar
RCV000240901	p.del249del	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126738G>A	ClinVar
rs776934552	p.Gln249Arg	missense variant	-	NC_000014.9:g.95126737T>C	ExAC,gnomAD
rs886037732	p.Gln249Ter	stop gained	-	NC_000014.9:g.95126738G>A	-
rs1353008772	p.Cys251Arg	missense variant	-	NC_000014.9:g.95126732A>G	-
rs1167822359	p.Cys251Tyr	missense variant	-	NC_000014.9:g.95126731C>T	gnomAD
RCV000654449	p.Cys251Arg	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126732A>G	ClinVar
RCV000654362	p.Ile253Ter	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126726dup	ClinVar
rs1418479189	p.Ile253Val	missense variant	-	NC_000014.9:g.95126726T>C	TOPMed,gnomAD
RCV000324795	p.Gly258Val	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95126710C>A	ClinVar
rs188327838	p.Gly258Val	missense variant	-	NC_000014.9:g.95126710C>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000576081	p.Pro259Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95126707G>A	ClinVar
RCV000558887	p.Pro259Leu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126707G>A	ClinVar
rs566464225	p.Pro259Leu	missense variant	-	NC_000014.9:g.95126707G>A	1000Genomes,ExAC,gnomAD
rs772627278	p.Leu266Phe	missense variant	-	NC_000014.9:g.95126687G>A	ExAC,gnomAD
RCV000470858	p.Glu268Gly	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126680T>C	ClinVar
rs774554682	p.Glu268Gly	missense variant	-	NC_000014.9:g.95126680T>C	gnomAD
rs1251925935	p.Glu268Lys	missense variant	-	NC_000014.9:g.95126681C>T	gnomAD
RCV000699253	p.Met272Ile	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126667C>G	ClinVar
COSM3499500	p.Met272Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95126667C>T	NCI-TCGA Cosmic
RCV000691517	p.Glu273Ala	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126665T>G	ClinVar
RCV000568089	p.Leu274Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95126663A>C	ClinVar
RCV000474599	p.Leu274Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126663A>C	ClinVar
rs778219828	p.Leu274Val	missense variant	-	NC_000014.9:g.95126663A>C	ExAC,gnomAD
COSM1323310	p.Glu275Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95126659T>G	NCI-TCGA Cosmic
rs1555375333	p.Glu275Ter	stop gained	-	NC_000014.9:g.95126660C>A	-
RCV000536462	p.Glu275Ter	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126660C>A	ClinVar
RCV000476889	p.Ala277Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126653G>A	ClinVar
rs986916694	p.Ala277Val	missense variant	-	NC_000014.9:g.95126653G>A	TOPMed,gnomAD
RCV000240941	p.Leu278Phe	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126651G>A	ClinVar
rs768248216	p.Leu278Phe	missense variant	-	NC_000014.9:g.95126651G>A	ExAC,gnomAD
RCV000687219	p.Asn279Tyr	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126648T>A	ClinVar
rs1345404696	p.Asn279Tyr	missense variant	-	NC_000014.9:g.95126648T>A	gnomAD
rs1422024152	p.Asn279Ser	missense variant	-	NC_000014.9:g.95126647T>C	TOPMed
NCI-TCGA novel	p.Phe280Leu	missense variant	-	NC_000014.9:g.95126643A>C	NCI-TCGA
RCV000686266	p.Asp283Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126635T>A	ClinVar
RCV000696424	p.Cys284Tyr	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126632C>T	ClinVar
rs1412252643	p.Cys284Arg	missense variant	-	NC_000014.9:g.95126633A>G	gnomAD
rs748847398	p.Asn285Ser	missense variant	-	NC_000014.9:g.95126629T>C	ExAC,gnomAD
RCV000571313	p.Asn285Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95126629T>C	ClinVar
RCV000469952	p.Ser287Cys	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126623G>C	ClinVar
rs1060503600	p.Ser287Cys	missense variant	-	NC_000014.9:g.95126623G>C	-
RCV000654405	p.Val288Ile	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126621C>T	ClinVar
rs1555375302	p.Val288Ile	missense variant	-	NC_000014.9:g.95126621C>T	-
NCI-TCGA novel	p.Ser290Leu	missense variant	-	NC_000014.9:g.95126614G>A	NCI-TCGA
RCV000493107	p.Arg293Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95126603_95126606del	ClinVar
RCV000493010	p.Arg293Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95126608del	ClinVar
RCV000225818	p.Arg293Gly	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126606T>C	ClinVar
RCV000240877	p.Arg293Ter	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126603_95126606del	ClinVar
rs878855277	p.Arg293Gly	missense variant	-	NC_000014.9:g.95126606T>C	TOPMed,gnomAD
RCV000566029	p.Ser295Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95126599G>C	ClinVar
rs548231008	p.Ser295Cys	missense variant	-	NC_000014.9:g.95126599G>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000232640	p.Ser299Leu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126587G>A	ClinVar
RCV000565567	p.Ser299Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95126587G>A	ClinVar
rs755944755	p.Ser299Leu	missense variant	-	NC_000014.9:g.95126587G>A	ExAC,TOPMed,gnomAD
rs1428486464	p.Lys300Glu	missense variant	-	NC_000014.9:g.95126585T>C	gnomAD
RCV000526362	p.Gln301Ter	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95126582G>A	ClinVar
rs781144010	p.Gln301Ter	stop gained	-	NC_000014.9:g.95126582G>A	ExAC,gnomAD
rs781144010	p.Gln301Glu	missense variant	-	NC_000014.9:g.95126582G>C	ExAC,gnomAD
rs1555374864	p.Ile302Leu	missense variant	-	NC_000014.9:g.95124668T>G	-
RCV000654366	p.Ile302Leu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124668T>G	ClinVar
RCV000568506	p.Arg307Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124653G>A	ClinVar
RCV000551570	p.Arg307Cys	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124653G>A	ClinVar
RCV000226203	p.Arg307His	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124652C>T	ClinVar
RCV000570173	p.Arg307His	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124652C>T	ClinVar
rs772431718	p.Arg307Gly	missense variant	-	NC_000014.9:g.95124653G>C	ExAC,TOPMed,gnomAD
rs772431718	p.Arg307Cys	missense variant	-	NC_000014.9:g.95124653G>A	ExAC,TOPMed,gnomAD
rs149718671	p.Arg307His	missense variant	-	NC_000014.9:g.95124652C>T	ESP,ExAC,TOPMed,gnomAD
rs1047347414	p.Ala308Thr	missense variant	-	NC_000014.9:g.95124650C>T	TOPMed,gnomAD
rs1047347414	p.Ala308Ser	missense variant	-	NC_000014.9:g.95124650C>A	TOPMed,gnomAD
RCV000525307	p.Val309Ile	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124647C>T	ClinVar
RCV000569084	p.Val309Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124647C>T	ClinVar
rs1181141404	p.Val309Ile	missense variant	-	NC_000014.9:g.95124647C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Leu310Phe	missense variant	-	NC_000014.9:g.95124642C>A	NCI-TCGA
RCV000493641	p.Leu313Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124635dup	ClinVar
rs956714281	p.Pro315Leu	missense variant	-	NC_000014.9:g.95124628G>A	TOPMed
RCV000493574	p.Trp316Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124612_95124625del	ClinVar
RCV000654416	p.Trp316Ter	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124625C>T	ClinVar
RCV000851487	p.Trp316Ter	nonsense	-	NC_000014.9:g.95124625C>T	ClinVar
rs1555374839	p.Trp316Ter	stop gained	-	NC_000014.9:g.95124625C>T	-
RCV000463070	p.Lys320Arg	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124613T>C	ClinVar
rs1461043339	p.Lys320Glu	missense variant	-	NC_000014.9:g.95124614T>C	gnomAD
rs779851333	p.Lys320Arg	missense variant	-	NC_000014.9:g.95124613T>C	ExAC
rs769510530	p.Val321Ala	missense variant	-	NC_000014.9:g.95124610A>G	ExAC,gnomAD
RCV000540314	p.Gly323Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124604C>A	ClinVar
RCV000563980	p.Gly323Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124604C>A	ClinVar
rs906299601	p.Gly323Val	missense variant	-	NC_000014.9:g.95124604C>A	gnomAD
RCV000654395	p.Met324Ile	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124600C>T	ClinVar
rs1452957166	p.Met324Val	missense variant	-	NC_000014.9:g.95124602T>C	gnomAD
rs1555374806	p.Met324Ile	missense variant	-	NC_000014.9:g.95124600C>T	-
RCV000654430	p.Met325Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124599T>C	ClinVar
rs1555374801	p.Met325Val	missense variant	-	NC_000014.9:g.95124599T>C	-
rs1260695579	p.Met325Ile	missense variant	-	NC_000014.9:g.95124597C>T	gnomAD
RCV000654443	p.Val326Ile	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124596C>T	ClinVar
COSM4053291	p.Val326Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95124595A>G	NCI-TCGA Cosmic
rs1555374798	p.Val326Ile	missense variant	-	NC_000014.9:g.95124596C>T	-
rs1555374798	p.Val326Leu	missense variant	-	NC_000014.9:g.95124596C>G	-
NCI-TCGA novel	p.Val326Leu	missense variant	-	NC_000014.9:g.95124596C>A	NCI-TCGA
RCV000566754	p.Val326Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124596C>G	ClinVar
RCV000654393	p.Val326Leu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124596C>G	ClinVar
RCV000554989	p.Arg327Gly	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124593T>C	ClinVar
rs1555374797	p.Arg327Gly	missense variant	-	NC_000014.9:g.95124593T>C	-
COSM1371857	p.Glu328Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.95124590C>A	NCI-TCGA Cosmic
RCV000240904	p.Tyr332Ter	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124576G>T	ClinVar
rs757094384	p.Tyr332Ter	stop gained	-	NC_000014.9:g.95124576G>T	ExAC,TOPMed,gnomAD
RCV000471033	p.His335Arg	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124568T>C	ClinVar
RCV000696809	p.His335Gln	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124567A>C	ClinVar
RCV000573917	p.His335Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124568T>C	ClinVar
rs1060503602	p.His335Arg	missense variant	-	NC_000014.9:g.95124568T>C	TOPMed,gnomAD
rs556647675	p.His335Tyr	missense variant	-	NC_000014.9:g.95124569G>A	1000Genomes,ExAC,gnomAD
rs1383771176	p.Gln337His	missense variant	-	NC_000014.9:g.95124561T>G	gnomAD
RCV000692200	p.Gln337His	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124561T>G	ClinVar
RCV000120644	p.Glu338Ala	missense variant	-	NC_000014.9:g.95124559T>G	ClinVar
rs587778232	p.Glu338Ala	missense variant	-	NC_000014.9:g.95124559T>G	ExAC,TOPMed,gnomAD
RCV000654438	p.Glu339Asp	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124555C>G	ClinVar
rs1555374783	p.Glu339Leu	missense variant	-	NC_000014.9:g.95124556_95124557delinsAA	-
rs755007541	p.Glu339Asp	missense variant	-	NC_000014.9:g.95124555C>G	ExAC,TOPMed,gnomAD
RCV000535438	p.Glu339Leu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124556_95124557delinsAA	ClinVar
rs753974932	p.Leu340Pro	missense variant	-	NC_000014.9:g.95124553A>G	ExAC,gnomAD
COSM959279	p.His341Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95124550T>G	NCI-TCGA Cosmic
RCV000493822	p.Arg342Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124548del	ClinVar
COSM3499499	p.Arg342Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95124546C>G	NCI-TCGA Cosmic
RCV000550323	p.Phe344Ter	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124545dup	ClinVar
RCV000851433	p.Phe344Ter	frameshift	-	NC_000014.9:g.95124545dup	ClinVar
RCV000533944	p.Phe344Leu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124540A>C	ClinVar
NCI-TCGA novel	p.Phe344Ile	missense variant	-	NC_000014.9:g.95124542A>T	NCI-TCGA
rs1161765608	p.Phe344Leu	missense variant	-	NC_000014.9:g.95124540A>C	gnomAD
RCV000695217	p.Leu346Phe	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124534C>A	ClinVar
rs1444222157	p.Leu346Ter	stop gained	-	NC_000014.9:g.95124535A>T	gnomAD
rs1195740384	p.Thr348Ile	missense variant	-	NC_000014.9:g.95124529G>A	gnomAD
rs1555374767	p.Thr348Ala	missense variant	-	NC_000014.9:g.95124530T>C	-
RCV000548854	p.Thr348Ala	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124530T>C	ClinVar
rs1358609309	p.Phe351Leu	missense variant	-	NC_000014.9:g.95124519G>C	gnomAD
RCV000561726	p.His356Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124505T>C	ClinVar
rs1212942890	p.His356Arg	missense variant	-	NC_000014.9:g.95124505T>C	TOPMed
NCI-TCGA novel	p.His356Leu	missense variant	-	NC_000014.9:g.95124505T>A	NCI-TCGA
RCV000542132	p.Ala357Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124502G>A	ClinVar
rs760821185	p.Ala357Thr	missense variant	-	NC_000014.9:g.95124503C>T	ExAC,TOPMed,gnomAD
rs1555374756	p.Ala357Val	missense variant	-	NC_000014.9:g.95124502G>A	-
NCI-TCGA novel	p.Cys359Tyr	missense variant	-	NC_000014.9:g.95124496C>T	NCI-TCGA
RCV000566742	p.Glu361Lys	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124491C>T	ClinVar
rs878855238	p.Glu361Lys	missense variant	-	NC_000014.9:g.95124491C>T	TOPMed,gnomAD
RCV000232128	p.Glu361Lys	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124491C>T	ClinVar
RCV000474601	p.His362Arg	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124487T>C	ClinVar
rs767729028	p.His362Arg	missense variant	-	NC_000014.9:g.95124487T>C	ExAC,TOPMed,gnomAD
rs878855239	p.Phe363Leu	missense variant	-	NC_000014.9:g.95124483G>T	gnomAD
rs762290893	p.Phe363Val	missense variant	-	NC_000014.9:g.95124485A>C	ExAC,gnomAD
RCV000654434	p.Ser364Leu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124481G>A	ClinVar
rs1555374748	p.Ser364Leu	missense variant	-	NC_000014.9:g.95124481G>A	-
RCV000467606	p.Pro365Leu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124478G>A	ClinVar
rs1060503598	p.Pro365Arg	missense variant	-	NC_000014.9:g.95124478G>C	gnomAD
rs1060503598	p.Pro365Leu	missense variant	-	NC_000014.9:g.95124478G>A	gnomAD
rs774693190	p.Ala366Val	missense variant	-	NC_000014.9:g.95124475G>A	ExAC,gnomAD
RCV000574059	p.Leu368Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124470G>T	ClinVar
RCV000547415	p.Leu368Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124470G>C	ClinVar
rs1555374747	p.Leu368Val	missense variant	-	NC_000014.9:g.95124470G>C	-
rs1555374747	p.Leu368Ile	missense variant	-	NC_000014.9:g.95124470G>T	-
RCV000525847	p.Asp369Glu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124465G>T	ClinVar
rs1441684309	p.Asp369Gly	missense variant	-	NC_000014.9:g.95124466T>C	TOPMed
rs1555374745	p.Asp369Glu	missense variant	-	NC_000014.9:g.95124465G>T	-
RCV000229751	p.Leu370Pro	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124463A>G	ClinVar
rs878855240	p.Leu370Pro	missense variant	-	NC_000014.9:g.95124463A>G	TOPMed,gnomAD
RCV000540691	p.Val373Leu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124455C>G	ClinVar
rs369145814	p.Val373Leu	missense variant	-	NC_000014.9:g.95124455C>G	ESP,TOPMed
RCV000761116	p.Pro375Arg	missense variant	Neuroblastoma (NBLST1)	NC_000014.9:g.95124448G>C	ClinVar
RCV000570796	p.Pro375Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124448G>C	ClinVar
rs148758903	p.Pro375Arg	missense variant	-	NC_000014.9:g.95124448G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000231396	p.Pro375Arg	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124448G>C	ClinVar
NCI-TCGA novel	p.Lys376AsnPheSerTerUnkUnk	frameshift	-	NC_000014.9:g.95124440_95124444TTACT>-	NCI-TCGA
rs1390995232	p.Val377Ala	missense variant	-	NC_000014.9:g.95124442A>G	gnomAD
COSM959278	p.Ile378Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95124440T>A	NCI-TCGA Cosmic
rs769457054	p.Ile378Met	missense variant	-	NC_000014.9:g.95124438G>C	ExAC,gnomAD
rs775070199	p.Ile378Asn	missense variant	-	NC_000014.9:g.95124439A>T	ExAC,gnomAD
RCV000528753	p.Lys379Ter	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124437del	ClinVar
rs1372798580	p.Leu380Gln	missense variant	-	NC_000014.9:g.95124433A>T	gnomAD
RCV000493341	p.del382del	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124428C>A	ClinVar
RCV000493341	p.Glu382Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124428C>A	ClinVar
RCV000240937	p.Glu382Ter	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124428C>A	ClinVar
RCV000240937	p.del382del	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124428C>A	ClinVar
rs886037667	p.Glu382Ter	stop gained	-	NC_000014.9:g.95124428C>A	gnomAD
rs886037667	p.Glu382Lys	missense variant	-	NC_000014.9:g.95124428C>T	gnomAD
rs1219577339	p.Ile383Met	missense variant	-	NC_000014.9:g.95124423G>C	gnomAD
RCV000567826	p.Arg385Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124419G>C	ClinVar
rs746886465	p.Arg385Gly	missense variant	-	NC_000014.9:g.95124419G>C	ExAC,TOPMed,gnomAD
rs746886465	p.Arg385Cys	missense variant	-	NC_000014.9:g.95124419G>A	ExAC,TOPMed,gnomAD
rs746886465	p.Arg385Ser	missense variant	-	NC_000014.9:g.95124419G>T	ExAC,TOPMed,gnomAD
rs1273140956	p.Arg385His	missense variant	-	NC_000014.9:g.95124418C>T	TOPMed,gnomAD
RCV000654459	p.Lys386Arg	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124415T>C	ClinVar
RCV000565916	p.Lys386Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124415T>C	ClinVar
rs777556655	p.Lys386Arg	missense variant	-	NC_000014.9:g.95124415T>C	ExAC,TOPMed,gnomAD
RCV000654450	p.Lys388Glu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124410T>C	ClinVar
rs1555374717	p.Lys388Glu	missense variant	-	NC_000014.9:g.95124410T>C	-
RCV000851434	p.Tyr390His	missense variant	-	NC_000014.9:g.95124404A>G	ClinVar
rs878855241	p.Tyr390His	missense variant	-	NC_000014.9:g.95124404A>G	-
rs1269365429	p.Glu391Asp	missense variant	-	NC_000014.9:g.95124399C>A	gnomAD
RCV000851396	p.Arg392Ter	nonsense	-	NC_000014.9:g.95124398G>A	ClinVar
rs142635816	p.Arg392Gln	missense variant	-	NC_000014.9:g.95124397C>T	ESP,ExAC,TOPMed,gnomAD
rs1131691211	p.Arg392Ter	stop gained	-	NC_000014.9:g.95124398G>A	-
RCV000552764	p.Glu396Gly	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124385T>C	ClinVar
RCV000493573	p.Glu396Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124385_95124387delinsG	ClinVar
RCV000493573	p.del396del	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124385_95124387delinsG	ClinVar
RCV000240876	p.Glu396Ter	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124385_95124387delinsG	ClinVar
RCV000240876	p.del396del	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124385_95124387delinsG	ClinVar
rs1555374707	p.Glu396Gly	missense variant	-	NC_000014.9:g.95124385T>C	-
rs1347290726	p.Ser397Asn	missense variant	-	NC_000014.9:g.95124382C>T	gnomAD
RCV000571846	p.Ser397Asn	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124382C>T	ClinVar
RCV000687412	p.Val398Ile	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124380C>T	ClinVar
rs1404281132	p.Val398Ile	missense variant	-	NC_000014.9:g.95124380C>T	TOPMed,gnomAD
rs1555374703	p.Glu399Ala	missense variant	-	NC_000014.9:g.95124376T>G	-
RCV000654433	p.Glu399Ala	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124376T>G	ClinVar
RCV000240914	p.Tyr401Ter	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124370dup	ClinVar
rs886037669	p.Tyr401Ter	stop gained	-	NC_000014.9:g.95124370dup	-
rs1355146488	p.Tyr401Cys	missense variant	-	NC_000014.9:g.95124370T>C	gnomAD
COSM959277	p.Arg404Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95124361C>A	NCI-TCGA Cosmic
rs1024226278	p.Asn405Ser	missense variant	-	NC_000014.9:g.95124358T>C	TOPMed
RCV000574527	p.Asn405His	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124359T>G	ClinVar
RCV000531172	p.Asn405His	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124359T>G	ClinVar
rs551460901	p.Asn405His	missense variant	-	NC_000014.9:g.95124359T>G	ExAC,gnomAD
NCI-TCGA novel	p.Gln406Ter	stop gained	-	NC_000014.9:g.95124356G>A	NCI-TCGA
rs750625383	p.Asn408Asp	missense variant	-	NC_000014.9:g.95124350T>C	ExAC,gnomAD
RCV000692244	p.Ser411Ala	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124341A>C	ClinVar
RCV000523257	p.Trp412Ter	frameshift	-	NC_000014.9:g.95124338del	ClinVar
RCV000704373	p.Ser413Arg	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124335T>G	ClinVar
rs1555374678	p.Ser413Arg	missense variant	-	NC_000014.9:g.95124335T>G	-
NCI-TCGA novel	p.Ser413Gly	missense variant	-	NC_000014.9:g.95124335T>C	NCI-TCGA
RCV000574576	p.Ser413Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124335T>G	ClinVar
rs1344560237	p.Asp414Gly	missense variant	-	NC_000014.9:g.95124331T>C	TOPMed
RCV000493435	p.Glu416Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124326C>A	ClinVar
rs1131691220	p.Glu416Ter	stop gained	-	NC_000014.9:g.95124326C>A	-
RCV000541482	p.Asp417Glu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124321A>C	ClinVar
rs899404083	p.Asp417Glu	missense variant	-	NC_000014.9:g.95124321A>C	TOPMed
rs150714784	p.Asp417Asn	missense variant	-	NC_000014.9:g.95124323C>T	ESP,ExAC
RCV000466450	p.Asp419Gly	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124316T>C	ClinVar
rs1060503623	p.Asp419Gly	missense variant	-	NC_000014.9:g.95124316T>C	-
rs1555374663	p.Glu420Lys	missense variant	-	NC_000014.9:g.95124314C>T	-
rs1280386879	p.Glu420Gly	missense variant	-	NC_000014.9:g.95124313T>C	TOPMed
RCV000654435	p.Glu420Lys	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124314C>T	ClinVar
rs764367623	p.Asp421Gly	missense variant	-	NC_000014.9:g.95124310T>C	ExAC,gnomAD
RCV000704087	p.Glu422Lys	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124308C>T	ClinVar
rs763512012	p.Ile424Thr	missense variant	-	NC_000014.9:g.95124301A>G	ExAC,gnomAD
rs1435715607	p.Glu425Lys	missense variant	-	NC_000014.9:g.95124299C>T	gnomAD
COSM959276	p.Glu426Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.95124296C>A	NCI-TCGA Cosmic
rs776158166	p.Glu426Lys	missense variant	-	NC_000014.9:g.95124296C>T	ExAC,gnomAD
rs776158166	p.Glu426Gln	missense variant	-	NC_000014.9:g.95124296C>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu428Gln	missense variant	-	NC_000014.9:g.95124290C>G	NCI-TCGA
rs1325355975	p.Lys429Met	missense variant	-	NC_000014.9:g.95124286T>A	gnomAD
RCV000462069	p.Pro430Ala	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124284G>C	ClinVar
RCV000574018	p.Pro430Ala	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124284G>C	ClinVar
rs1060503601	p.Pro430Ala	missense variant	-	NC_000014.9:g.95124284G>C	TOPMed
NCI-TCGA novel	p.Asn433Lys	missense variant	-	NC_000014.9:g.95124273A>T	NCI-TCGA
rs1222748384	p.Pro435Ser	missense variant	-	NC_000014.9:g.95124269G>A	gnomAD
VAR_081917	p.Pro435Leu	Missense	-	-	UniProt
RCV000465655	p.Ser436Pro	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124266A>G	ClinVar
rs1060503595	p.Ser436Pro	missense variant	-	NC_000014.9:g.95124266A>G	-
rs1213682122	p.Ser436Phe	missense variant	-	NC_000014.9:g.95124265G>A	gnomAD
NCI-TCGA novel	p.Pro437Ala	missense variant	-	NC_000014.9:g.95124263G>C	NCI-TCGA
RCV000687785	p.Thr439Ser	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124256G>C	ClinVar
RCV000493723	p.Leu442Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124250dup	ClinVar
rs1440194810	p.Gly444Arg	missense variant	-	NC_000014.9:g.95124242C>T	gnomAD
rs1376773899	p.Ile446Val	missense variant	-	NC_000014.9:g.95124236T>C	TOPMed
rs1555374618	p.Val448Met	missense variant	-	NC_000014.9:g.95124230C>T	-
RCV000654369	p.Val448Met	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124230C>T	ClinVar
RCV000494670	p.Tyr452Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95124216G>C	ClinVar
rs1131691219	p.Tyr452Ter	stop gained	-	NC_000014.9:g.95124216G>C	-
rs368535616	p.Ala454Thr	missense variant	-	NC_000014.9:g.95124212C>T	ESP,ExAC,gnomAD
RCV000689168	p.Arg459Gly	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95124197T>C	ClinVar
rs1555373260	p.Leu460Phe	missense variant	-	NC_000014.9:g.95117751C>G	-
RCV000572584	p.Leu460Phe	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117751C>G	ClinVar
RCV000818349	p.Ile461Leu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117750T>A	ClinVar
RCV000574882	p.Ile461Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117750T>A	ClinVar
rs141163928	p.Ile461Leu	missense variant	-	NC_000014.9:g.95117750T>A	ESP,ExAC,TOPMed,gnomAD
RCV000331637	p.Ile461Val	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95117750T>C	ClinVar
rs141163928	p.Ile461Val	missense variant	-	NC_000014.9:g.95117750T>C	ESP,ExAC,TOPMed,gnomAD
RCV000574921	p.Lys462Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117746T>C	ClinVar
RCV000544563	p.Lys462Arg	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117746T>C	ClinVar
rs1555373256	p.Lys462Arg	missense variant	-	NC_000014.9:g.95117746T>C	-
rs761639108	p.Ala464Gly	missense variant	-	NC_000014.9:g.95117740G>C	ExAC,TOPMed,gnomAD
RCV000563971	p.Ala464Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117740G>C	ClinVar
RCV000797427	p.Ala464Gly	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117740G>C	ClinVar
RCV000493643	p.Gln467Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117730_95117731del	ClinVar
rs536815965	p.Asp468Gly	missense variant	-	NC_000014.9:g.95117728T>C	1000Genomes
RCV000494242	p.Glu470Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117723C>A	ClinVar
RCV000494242	p.del470del	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117723C>A	ClinVar
RCV000559384	p.Glu470Asp	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117721C>G	ClinVar
RCV000240880	p.Glu470Ter	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117723C>A	ClinVar
RCV000240880	p.del470del	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117723C>A	ClinVar
rs774271782	p.Glu470Asp	missense variant	-	NC_000014.9:g.95117721C>G	ExAC,TOPMed,gnomAD
rs886037671	p.Glu470Ter	stop gained	-	NC_000014.9:g.95117723C>A	-
rs1374595292	p.Ala472Thr	missense variant	-	NC_000014.9:g.95117717C>T	gnomAD
RCV000654415	p.Tyr473Ser	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117713T>G	ClinVar
RCV000543044	p.Tyr473Ter	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117715del	ClinVar
rs1314692347	p.Tyr473Ser	missense variant	-	NC_000014.9:g.95117713T>G	gnomAD
rs1314692347	p.Tyr473Cys	missense variant	-	NC_000014.9:g.95117713T>C	gnomAD
RCV000470835	p.Ile474Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117711T>C	ClinVar
rs1060503581	p.Ile474Val	missense variant	-	NC_000014.9:g.95117711T>C	-
rs768640312	p.Ile474Met	missense variant	-	NC_000014.9:g.95117709G>C	ExAC,gnomAD
RCV000573989	p.Ser475Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117708T>A	ClinVar
RCV000472646	p.Ser475Cys	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117708T>A	ClinVar
rs1060503594	p.Ser475Cys	missense variant	-	NC_000014.9:g.95117708T>A	TOPMed,gnomAD
RCV000475639	p.Asn477Ser	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117701T>C	ClinVar
RCV000564585	p.Asn477Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117701T>C	ClinVar
rs1060503630	p.Asn477Ser	missense variant	-	NC_000014.9:g.95117701T>C	TOPMed,gnomAD
rs1293949005	p.Ile479Val	missense variant	-	NC_000014.9:g.95117696T>C	TOPMed
rs1307281391	p.Gly481Val	missense variant	-	NC_000014.9:g.95117689C>A	TOPMed
RCV000654452	p.His482Arg	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117686T>C	ClinVar
rs749240414	p.His482Arg	missense variant	-	NC_000014.9:g.95117686T>C	ExAC,TOPMed,gnomAD
RCV000556393	p.Gly485Arg	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117678C>T	ClinVar
rs762155753	p.Gly485Arg	missense variant	-	NC_000014.9:g.95117678C>T	gnomAD
RCV000476049	p.Asn487Tyr	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117672T>A	ClinVar
rs1060503590	p.Asn487Tyr	missense variant	-	NC_000014.9:g.95117672T>A	-
RCV000493763	p.Gln488Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117669dup	ClinVar
rs770934736	p.Gln488His	missense variant	-	NC_000014.9:g.95117667C>A	ExAC,gnomAD
RCV000472468	p.Pro489Leu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117665G>A	ClinVar
rs200866760	p.Pro489Leu	missense variant	-	NC_000014.9:g.95117665G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000534895	p.Arg490His	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117662C>T	ClinVar
rs777894117	p.Arg490Cys	missense variant	-	NC_000014.9:g.95117663G>A	ExAC,TOPMed,gnomAD
RCV000570166	p.Arg490Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117663G>A	ClinVar
RCV000472281	p.Arg490Ser	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117663G>T	ClinVar
rs1006363970	p.Arg490Leu	missense variant	-	NC_000014.9:g.95117662C>A	TOPMed,gnomAD
rs777894117	p.Arg490Ser	missense variant	-	NC_000014.9:g.95117663G>T	ExAC,TOPMed,gnomAD
rs1006363970	p.Arg490His	missense variant	-	NC_000014.9:g.95117662C>T	TOPMed,gnomAD
RCV000227215	p.Arg490Cys	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117663G>A	ClinVar
RCV000654469	p.Lys492Arg	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117656T>C	ClinVar
rs758829946	p.Lys492Arg	missense variant	-	NC_000014.9:g.95117656T>C	ExAC,gnomAD
rs1184987398	p.Gln493Glu	missense variant	-	NC_000014.9:g.95117654G>C	TOPMed
RCV000572347	p.Met494Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117649C>T	ClinVar
RCV000803105	p.Met494Ile	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117649C>T	ClinVar
rs878855243	p.Met494Val	missense variant	-	NC_000014.9:g.95117651T>C	-
RCV000231243	p.Met494Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117651T>C	ClinVar
rs1224788557	p.Met494Ile	missense variant	-	NC_000014.9:g.95117649C>T	gnomAD
RCV000549790	p.Met494Thr	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117650A>G	ClinVar
rs1269571329	p.Met494Thr	missense variant	-	NC_000014.9:g.95117650A>G	TOPMed,gnomAD
rs779431881	p.Ala496Thr	missense variant	-	NC_000014.9:g.95117645C>T	ExAC,gnomAD
COSM3815608	p.Glu497Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95117641T>G	NCI-TCGA Cosmic
rs1205403584	p.Arg499Gly	missense variant	-	NC_000014.9:g.95117636T>C	gnomAD
RCV000211121	p.Lys500Ter	nonsense	Pineoblastoma	NC_000014.9:g.95117633T>A	ClinVar
rs875989782	p.Lys500Ter	stop gained	-	NC_000014.9:g.95117633T>A	-
NCI-TCGA novel	p.Glu502Gly	missense variant	-	NC_000014.9:g.95117626T>C	NCI-TCGA
rs137852977	p.Glu503Gln	missense variant	Pleuropulmonary blastoma (ppb)	NC_000014.9:g.95117624C>G	-
RCV000493893	p.Glu503Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95117624C>A	ClinVar
RCV000240918	p.Glu503Ter	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117624C>A	ClinVar
RCV000654409	p.Glu503Gln	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95117624C>G	ClinVar
RCV000004726	p.Glu503Ter	nonsense	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95117624C>A	ClinVar
rs137852977	p.Glu503Ter	stop gained	Pleuropulmonary blastoma (ppb)	NC_000014.9:g.95117624C>A	-
NCI-TCGA novel	p.Val504Leu	missense variant	-	NC_000014.9:g.95116695C>A	NCI-TCGA
rs748384175	p.Val504Ile	missense variant	-	NC_000014.9:g.95116695C>T	ExAC,gnomAD
RCV000851442	p.Arg509Ter	nonsense	-	NC_000014.9:g.95116680G>A	ClinVar
RCV000240959	p.Arg509Ter	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116680G>A	ClinVar
RCV000494034	p.Arg509Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95116680G>A	ClinVar
rs886037672	p.Arg509Ter	stop gained	-	NC_000014.9:g.95116680G>A	-
RCV000540230	p.Glu512Gly	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116670T>C	ClinVar
rs1375042165	p.Glu512Asp	missense variant	-	NC_000014.9:g.95116669C>G	gnomAD
rs1555372903	p.Glu512Gly	missense variant	-	NC_000014.9:g.95116670T>C	-
rs750188806	p.Asn514Ser	missense variant	-	NC_000014.9:g.95116664T>C	ExAC,gnomAD
RCV000696372	p.Ala518Gly	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116652G>C	ClinVar
RCV000695734	p.Thr519Ala	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116650T>C	ClinVar
rs966168689	p.Ile521Val	missense variant	-	NC_000014.9:g.95116644T>C	TOPMed
rs1178338521	p.Val522Ala	missense variant	-	NC_000014.9:g.95116640A>G	gnomAD
NCI-TCGA novel	p.Glu524Ter	stop gained	-	NC_000014.9:g.95116635C>A	NCI-TCGA
RCV000470173	p.Val526Ile	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116629C>T	ClinVar
rs1060503660	p.Val526Ile	missense variant	-	NC_000014.9:g.95116629C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Val526Ala	missense variant	-	NC_000014.9:g.95116628A>G	NCI-TCGA
RCV000232020	p.Ile528Thr	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116622A>G	ClinVar
rs755649018	p.Ile528Val	missense variant	-	NC_000014.9:g.95116623T>C	ExAC,TOPMed,gnomAD
rs143099538	p.Ile528Thr	missense variant	-	NC_000014.9:g.95116622A>G	ESP,ExAC,TOPMed,gnomAD
RCV000575192	p.Ile528Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95116622A>G	ClinVar
rs755649018	p.Ile528Leu	missense variant	-	NC_000014.9:g.95116623T>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile528Met	missense variant	-	NC_000014.9:g.95116621T>C	NCI-TCGA
RCV000706694	p.Lys530Arg	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116616T>C	ClinVar
RCV000573426	p.Arg536Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95116599G>A	ClinVar
rs1007754435	p.Arg536Cys	missense variant	-	NC_000014.9:g.95116599G>A	TOPMed,gnomAD
COSM959274	p.Leu539CysPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.95116589A>-	NCI-TCGA Cosmic
rs761391603	p.Glu542Gly	missense variant	-	NC_000014.9:g.95116580T>C	ExAC,gnomAD
RCV000570700	p.Glu542Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95116580T>C	ClinVar
RCV000550573	p.Glu542Gly	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116580T>C	ClinVar
NCI-TCGA novel	p.Glu542Lys	missense variant	-	NC_000014.9:g.95116581C>T	NCI-TCGA
RCV000851443	p.Arg544Ter	nonsense	-	NC_000014.9:g.95116575G>A	ClinVar
RCV000004729	p.Arg544Ter	nonsense	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95116575G>A	ClinVar
RCV000240896	p.Arg544Ter	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116575G>A	ClinVar
RCV000528971	p.Arg544Gln	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116574C>T	ClinVar
rs143533680	p.Arg544Gln	missense variant	-	NC_000014.9:g.95116574C>T	ESP,ExAC,TOPMed,gnomAD
rs137852979	p.Arg544Ter	stop gained	Pleuropulmonary blastoma (ppb)	NC_000014.9:g.95116575G>A	-
rs1344891057	p.Ser545Phe	missense variant	-	NC_000014.9:g.95116571G>A	gnomAD
rs1261880466	p.Gln548Leu	missense variant	-	NC_000014.9:g.95116562T>A	gnomAD
RCV000240932	p.Gly551Ter	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116554C>A	ClinVar
RCV000240932	p.del551del	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116554C>A	ClinVar
rs886037673	p.Gly551Ter	stop gained	-	NC_000014.9:g.95116554C>A	-
rs148532788	p.Arg554Gly	missense variant	-	NC_000014.9:g.95116545T>C	1000Genomes,ExAC,gnomAD
RCV000697921	p.Ala555Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116541G>A	ClinVar
COSM699745	p.Ile557Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95116534G>C	NCI-TCGA Cosmic
rs139198222	p.Ile557Val	missense variant	-	NC_000014.9:g.95116536T>C	ESP,ExAC,TOPMed,gnomAD
COSM959273	p.Tyr560Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95116526T>C	NCI-TCGA Cosmic
rs147493562	p.Ile561Val	missense variant	-	NC_000014.9:g.95116524T>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000553612	p.Ile561Thr	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116523A>G	ClinVar
RCV000233675	p.Ile561Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116524T>C	ClinVar
rs1383145692	p.Ile561Thr	missense variant	-	NC_000014.9:g.95116523A>G	TOPMed,gnomAD
RCV000240961	p.Met562Ter	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116520_95116521del	ClinVar
RCV000240961	p.del562del	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116520_95116521del	ClinVar
RCV000456479	p.Ala564Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116514G>A	ClinVar
RCV000654417	p.Ala564Gly	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116514G>C	ClinVar
RCV000571889	p.Ala564Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95116514G>A	ClinVar
rs201298288	p.Ala564Val	missense variant	-	NC_000014.9:g.95116514G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs773357230	p.Ala564Thr	missense variant	-	NC_000014.9:g.95116515C>T	ExAC,gnomAD
rs201298288	p.Ala564Gly	missense variant	-	NC_000014.9:g.95116514G>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000542373	p.Asp565Ter	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116511del	ClinVar
rs1342138544	p.Asp565Val	missense variant	-	NC_000014.9:g.95116511T>A	TOPMed
RCV000240898	p.Thr566Ter	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116510_95116511del	ClinVar
RCV000240898	p.del566del	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116510_95116511del	ClinVar
rs1229773803	p.Asp567Glu	missense variant	-	NC_000014.9:g.95116504G>C	TOPMed
RCV000705667	p.Lys568Arg	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116502T>C	ClinVar
RCV000459141	p.Ile569Ter	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116499_95116503del	ClinVar
RCV000654465	p.Ile569Thr	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116499A>G	ClinVar
RCV000460011	p.Ile569Met	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116498T>C	ClinVar
rs1555372847	p.Ile569Thr	missense variant	-	NC_000014.9:g.95116499A>G	-
rs774765473	p.Ile569Met	missense variant	-	NC_000014.9:g.95116498T>C	ExAC,TOPMed,gnomAD
RCV000240934	p.Phe572Ter	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116492del	ClinVar
RCV000240934	p.del572del	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116492del	ClinVar
RCV000465908	p.Asp575Glu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116480G>T	ClinVar
rs1060503652	p.Asp575Glu	missense variant	-	NC_000014.9:g.95116480G>T	-
rs1310449725	p.Leu576Phe	missense variant	-	NC_000014.9:g.95116479G>A	TOPMed
RCV000561602	p.Thr578Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95116480del	ClinVar
RCV000564125	p.Thr578Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95116472G>C	ClinVar
RCV000459495	p.Thr578Ser	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116472G>C	ClinVar
RCV000493051	p.Thr578Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95116476dup	ClinVar
rs1060503586	p.Thr578Ser	missense variant	-	NC_000014.9:g.95116472G>C	TOPMed
RCV000530577	p.Tyr579Cys	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116469T>C	ClinVar
rs769034924	p.Tyr579Cys	missense variant	-	NC_000014.9:g.95116469T>C	ExAC,gnomAD
RCV000654390	p.Lys580Glu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116467T>C	ClinVar
rs1555372824	p.Lys580Glu	missense variant	-	NC_000014.9:g.95116467T>C	-
RCV000545455	p.Ala581Gly	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116463G>C	ClinVar
rs1555372822	p.Ala581Gly	missense variant	-	NC_000014.9:g.95116463G>C	-
RCV000240873	p.Ile582Thr	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116460A>G	ClinVar
rs749686370	p.Ile582Thr	missense variant	-	NC_000014.9:g.95116460A>G	ExAC,gnomAD
RCV000493199	p.Glu583Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95116454_95116458del	ClinVar
RCV000464540	p.Glu583Ter	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95116458del	ClinVar
rs1159702656	p.Ile585Val	missense variant	-	NC_000014.9:g.95115821T>C	TOPMed
rs1555372652	p.Asn588Lys	missense variant	-	NC_000014.9:g.95115810G>T	-
rs1251715969	p.Asn588Thr	missense variant	-	NC_000014.9:g.95115811T>G	gnomAD
RCV000543973	p.Asn588Lys	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115810G>T	ClinVar
RCV000466596	p.Lys589Ter	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115807del	ClinVar
RCV000575465	p.Cys590Phe	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115805C>A	ClinVar
rs1555372646	p.Cys590Phe	missense variant	-	NC_000014.9:g.95115805C>A	-
RCV000691080	p.Cys590Phe	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115805C>A	ClinVar
COSM1477878	p.Ser591Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95115802G>C	NCI-TCGA Cosmic
RCV000558799	p.Ser591Phe	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115802G>A	ClinVar
rs1406205603	p.Ser591Ala	missense variant	-	NC_000014.9:g.95115803A>C	TOPMed
rs1555372631	p.Ser591Phe	missense variant	-	NC_000014.9:g.95115802G>A	-
rs757920193	p.Lys592Gln	missense variant	-	NC_000014.9:g.95115800T>G	ExAC,gnomAD
rs752424727	p.Ser593Leu	missense variant	-	NC_000014.9:g.95115796G>A	ExAC,gnomAD
RCV000470722	p.Asp595Gly	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115790T>C	ClinVar
rs1060503611	p.Asp595Gly	missense variant	-	NC_000014.9:g.95115790T>C	gnomAD
RCV000573803	p.Thr596Asn	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115787G>T	ClinVar
RCV000226251	p.Thr596Asn	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115787G>T	ClinVar
rs754852266	p.Thr596Ile	missense variant	-	NC_000014.9:g.95115787G>A	ExAC,TOPMed,gnomAD
RCV000494138	p.Thr596Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115787del	ClinVar
RCV000494138	p.del596del	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115787del	ClinVar
RCV000240926	p.Thr596Ter	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115787del	ClinVar
RCV000240926	p.del596del	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115787del	ClinVar
rs754852266	p.Thr596Asn	missense variant	-	NC_000014.9:g.95115787G>T	ExAC,TOPMed,gnomAD
RCV000654411	p.Gly597Ser	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115785C>T	ClinVar
rs1277436466	p.Gly597Ser	missense variant	-	NC_000014.9:g.95115785C>T	TOPMed,gnomAD
rs753796042	p.Glu598Lys	missense variant	-	NC_000014.9:g.95115782C>T	ExAC,TOPMed,gnomAD
RCV000654372	p.Thr599Ala	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115779T>C	ClinVar
rs766492523	p.Thr599Ala	missense variant	-	NC_000014.9:g.95115779T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp600Glu	missense variant	-	NC_000014.9:g.95115774G>T	NCI-TCGA
RCV000704838	p.Ile601Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115773T>C	ClinVar
rs564224919	p.Ile601Val	missense variant	-	NC_000014.9:g.95115773T>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000654420	p.Ile601Thr	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115772A>G	ClinVar
rs760966585	p.Ile601Thr	missense variant	-	NC_000014.9:g.95115772A>G	ExAC,gnomAD
NCI-TCGA novel	p.Asp602Gly	missense variant	-	NC_000014.9:g.95115769T>C	NCI-TCGA
RCV000474757	p.Pro603Thr	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115767G>T	ClinVar
rs1060503614	p.Pro603Thr	missense variant	-	NC_000014.9:g.95115767G>T	TOPMed,gnomAD
rs960381662	p.Val604Ile	missense variant	-	NC_000014.9:g.95115764C>T	TOPMed,gnomAD
RCV000569184	p.Met605Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115761T>C	ClinVar
rs1249693564	p.Met605Thr	missense variant	-	NC_000014.9:g.95115760A>G	TOPMed
rs759958601	p.Met605Val	missense variant	-	NC_000014.9:g.95115761T>C	ExAC,gnomAD
RCV000654422	p.Met605Thr	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115760A>G	ClinVar
rs545651708	p.Asp606Gly	missense variant	-	NC_000014.9:g.95115757T>C	1000Genomes
RCV000548401	p.Asp608Gly	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115751T>C	ClinVar
rs1270338113	p.Asp608Gly	missense variant	-	NC_000014.9:g.95115751T>C	TOPMed,gnomAD
RCV000698469	p.Asp608Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115751T>A	ClinVar
RCV000231934	p.Asp609Tyr	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115749C>A	ClinVar
rs114947750	p.Asp609Tyr	missense variant	-	NC_000014.9:g.95115749C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000240861	p.del610del	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115746_95115747insCT	ClinVar
RCV000240861	p.Val610Ter	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115746_95115747insCT	ClinVar
RCV000654396	p.Val610Ile	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115746C>T	ClinVar
RCV000536557	p.Val610Leu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115746C>G	ClinVar
RCV000493528	p.Val610Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115746_95115747insCT	ClinVar
RCV000493528	p.del610del	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115746_95115747insCT	ClinVar
rs1336108562	p.Val610Ile	missense variant	-	NC_000014.9:g.95115746C>T	gnomAD
rs1336108562	p.Val610Leu	missense variant	-	NC_000014.9:g.95115746C>G	gnomAD
NCI-TCGA novel	p.Phe611SerPheSerTerUnk	frameshift	-	NC_000014.9:g.95115742A>-	NCI-TCGA
RCV000456159	p.Pro613Ser	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115737G>A	ClinVar
rs201553563	p.Pro613Ser	missense variant	-	NC_000014.9:g.95115737G>A	1000Genomes,ExAC,gnomAD
RCV000493225	p.Tyr614Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115735del	ClinVar
rs1315795741	p.Val615Met	missense variant	-	NC_000014.9:g.95115731C>T	TOPMed,gnomAD
rs1315795741	p.Val615Leu	missense variant	-	NC_000014.9:g.95115731C>A	TOPMed,gnomAD
rs771634025	p.Leu616Trp	missense variant	-	NC_000014.9:g.95115727A>C	ExAC,gnomAD
rs1555372566	p.Pro618Arg	missense variant	-	NC_000014.9:g.95115721G>C	-
RCV000654442	p.Pro618Arg	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115721G>C	ClinVar
rs1426451842	p.Asp619Gly	missense variant	-	NC_000014.9:g.95115718T>C	TOPMed
COSM6076801	p.Asp620Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95115716C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp620Asn	missense variant	-	NC_000014.9:g.95115716C>T	NCI-TCGA
rs1369399401	p.Gly621Ala	missense variant	-	NC_000014.9:g.95115712C>G	TOPMed
RCV000703553	p.Gly621Asp	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115712C>T	ClinVar
rs1555372556	p.Gly622Ser	missense variant	-	NC_000014.9:g.95115710C>T	-
RCV000654431	p.Gly622Ser	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115710C>T	ClinVar
RCV000539624	p.Pro623Ser	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115707G>A	ClinVar
rs778668024	p.Pro623Ser	missense variant	-	NC_000014.9:g.95115707G>A	ExAC,TOPMed,gnomAD
RCV000493744	p.Arg624Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115704G>A	ClinVar
RCV000240902	p.Arg624Ter	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115704G>A	ClinVar
RCV000851400	p.Arg624Ter	nonsense	-	NC_000014.9:g.95115704G>A	ClinVar
rs753746305	p.Arg624Gln	missense variant	-	NC_000014.9:g.95115703C>T	ExAC,TOPMed,gnomAD
rs754818927	p.Arg624Gly	missense variant	-	NC_000014.9:g.95115704G>C	ExAC,gnomAD
rs754818927	p.Arg624Ter	stop gained	-	NC_000014.9:g.95115704G>A	ExAC,gnomAD
NCI-TCGA novel	p.Val625Gly	missense variant	-	NC_000014.9:g.95115700A>C	NCI-TCGA
RCV000554505	p.Thr626Lys	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115697G>T	ClinVar
rs375579739	p.Thr626Lys	missense variant	-	NC_000014.9:g.95115697G>T	ESP,ExAC,TOPMed,gnomAD
RCV000240940	p.del627del	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115694_95115697del	ClinVar
RCV000240940	p.Ile627Ter	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115694_95115697del	ClinVar
RCV000494355	p.Ile627Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115694_95115697del	ClinVar
RCV000482671	p.Ile627Ter	frameshift	-	NC_000014.9:g.95115694_95115697del	ClinVar
RCV000482671	p.del627del	frameshift	-	NC_000014.9:g.95115694_95115697del	ClinVar
RCV000494355	p.del627del	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115694_95115697del	ClinVar
rs1312425649	p.Ile627Val	missense variant	-	NC_000014.9:g.95115695T>C	TOPMed
RCV000569558	p.Asn628Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115691T>C	ClinVar
RCV000458073	p.Asn628Ser	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115691T>C	ClinVar
RCV000761009	p.Asn628Thr	missense variant	Diffuse astrocytoma	NC_000014.9:g.95115691T>G	ClinVar
rs756051157	p.Asn628Ser	missense variant	-	NC_000014.9:g.95115691T>C	ExAC,TOPMed,gnomAD
RCV000528058	p.Thr629Met	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115688G>A	ClinVar
RCV000565943	p.Thr629Met	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115688G>A	ClinVar
rs1177614630	p.Thr629Ala	missense variant	-	NC_000014.9:g.95115689T>C	gnomAD
rs750410087	p.Thr629Met	missense variant	-	NC_000014.9:g.95115688G>A	ExAC,TOPMed,gnomAD
rs878855245	p.Ile631Val	missense variant	-	NC_000014.9:g.95115683T>C	TOPMed,gnomAD
RCV000229468	p.Ile631Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115683T>C	ClinVar
rs878855245	p.Ile631Leu	missense variant	-	NC_000014.9:g.95115683T>G	TOPMed,gnomAD
rs878855245	p.Ile631Phe	missense variant	-	NC_000014.9:g.95115683T>A	TOPMed,gnomAD
rs763129150	p.His633Leu	missense variant	-	NC_000014.9:g.95115676T>A	ExAC,gnomAD
rs752853448	p.Ile634Val	missense variant	-	NC_000014.9:g.95115674T>C	ExAC,gnomAD
RCV000575691	p.Asn635Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95115670T>C	ClinVar
RCV000654414	p.Asn635Ser	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95115670T>C	ClinVar
rs765551529	p.Asn635Ser	missense variant	-	NC_000014.9:g.95115670T>C	ExAC,gnomAD
RCV000240903	p.Tyr637Ter	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113222dup	ClinVar
rs886037682	p.Tyr637Ter	stop gained	-	NC_000014.9:g.95113222dup	-
RCV000654375	p.Arg640Gly	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113214T>C	ClinVar
rs1555372107	p.Arg640Gly	missense variant	-	NC_000014.9:g.95113214T>C	-
rs1235554768	p.Pro642Thr	missense variant	-	NC_000014.9:g.95113208G>T	gnomAD
NCI-TCGA novel	p.Asp644Tyr	missense variant	-	NC_000014.9:g.95113202C>A	NCI-TCGA
rs781253567	p.Pro645Leu	missense variant	-	NC_000014.9:g.95113198G>A	ExAC,TOPMed,gnomAD
RCV000463332	p.Pro645Leu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113198G>A	ClinVar
COSM959272	p.Phe646Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95113196A>G	NCI-TCGA Cosmic
rs1238144220	p.Thr647Asn	missense variant	-	NC_000014.9:g.95113192G>T	gnomAD
rs752761725	p.Leu649Arg	missense variant	-	NC_000014.9:g.95113186A>C	ExAC,gnomAD
rs1315942457	p.Pro651Ser	missense variant	-	NC_000014.9:g.95113181G>A	gnomAD
rs1315942457	p.Pro651Ala	missense variant	-	NC_000014.9:g.95113181G>C	gnomAD
RCV000546568	p.Lys652Thr	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113177T>G	ClinVar
rs755150419	p.Lys652Thr	missense variant	-	NC_000014.9:g.95113177T>G	ExAC,TOPMed,gnomAD
rs1339343858	p.Lys652Gln	missense variant	-	NC_000014.9:g.95113178T>G	TOPMed
rs755150419	p.Lys652Ile	missense variant	-	NC_000014.9:g.95113177T>A	ExAC,TOPMed,gnomAD
rs1022513649	p.Cys653Phe	missense variant	-	NC_000014.9:g.95113174C>A	TOPMed
RCV000552179	p.Arg654Gly	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113172T>C	ClinVar
rs1555372083	p.Arg654Gly	missense variant	-	NC_000014.9:g.95113172T>C	-
NCI-TCGA novel	p.Arg654Lys	missense variant	-	NC_000014.9:g.95113171C>T	NCI-TCGA
RCV000494166	p.Arg656Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95113166G>A	ClinVar
RCV000532187	p.Arg656Gln	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113165C>T	ClinVar
RCV000240942	p.Arg656Ter	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113166G>A	ClinVar
rs754081635	p.Arg656Gly	missense variant	-	NC_000014.9:g.95113166G>C	ExAC,gnomAD
rs766707302	p.Arg656Gln	missense variant	-	NC_000014.9:g.95113165C>T	ExAC,TOPMed,gnomAD
RCV000851447	p.Arg656Ter	nonsense	-	NC_000014.9:g.95113166G>A	ClinVar
rs754081635	p.Arg656Ter	stop gained	-	NC_000014.9:g.95113166G>A	ExAC,gnomAD
rs1347537043	p.Pro659Ser	missense variant	-	NC_000014.9:g.95113157G>A	gnomAD
RCV000566256	p.Pro659Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95113157G>A	ClinVar
rs773588526	p.Asp660His	missense variant	-	NC_000014.9:g.95113154C>G	ExAC,gnomAD
RCV000654451	p.Asp660Gly	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113153T>C	ClinVar
RCV000573224	p.Asp660Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95113153T>C	ClinVar
rs773588526	p.Asp660Asn	missense variant	-	NC_000014.9:g.95113154C>T	ExAC,gnomAD
rs151272381	p.Asp660Gly	missense variant	-	NC_000014.9:g.95113153T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1163780413	p.Thr662Ala	missense variant	-	NC_000014.9:g.95113148T>C	gnomAD
RCV000654426	p.Tyr664Cys	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113141T>C	ClinVar
rs1555372066	p.Tyr664Cys	missense variant	-	NC_000014.9:g.95113141T>C	-
COSM959271	p.Ser665Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95113138G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu667Val	missense variant	-	NC_000014.9:g.95113133G>C	NCI-TCGA
RCV000546133	p.Tyr668Asp	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113130A>C	ClinVar
rs1555372059	p.Tyr668Asp	missense variant	-	NC_000014.9:g.95113130A>C	-
RCV000459832	p.Ile671Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113121T>C	ClinVar
RCV000565131	p.Ile671Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95113121T>C	ClinVar
rs768315203	p.Ile671Val	missense variant	-	NC_000014.9:g.95113121T>C	ExAC,TOPMed,gnomAD
rs748905178	p.Asn672Lys	missense variant	-	NC_000014.9:g.95113116G>C	ExAC,gnomAD
COSM3499494	p.Pro674Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95113111G>A	NCI-TCGA Cosmic
rs775336086	p.Pro674Arg	missense variant	-	NC_000014.9:g.95113111G>C	ExAC
RCV000697938	p.Leu675Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113109G>C	ClinVar
rs1201056619	p.Leu675Val	missense variant	-	NC_000014.9:g.95113109G>C	TOPMed
RCV000494079	p.Arg676Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95113106G>A	ClinVar
RCV000226155	p.Arg676Ter	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113106G>A	ClinVar
RCV000560799	p.Arg676Pro	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113105C>G	ClinVar
RCV000562090	p.Arg676Pro	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95113105C>G	ClinVar
RCV000851448	p.Arg676Ter	nonsense	-	NC_000014.9:g.95113106G>A	ClinVar
rs892971080	p.Arg676Pro	missense variant	-	NC_000014.9:g.95113105C>G	TOPMed,gnomAD
rs878855246	p.Arg676Ter	stop gained	-	NC_000014.9:g.95113106G>A	-
rs892971080	p.Arg676Gln	missense variant	-	NC_000014.9:g.95113105C>T	TOPMed,gnomAD
rs1555372041	p.Ala677Thr	missense variant	-	NC_000014.9:g.95113103C>T	-
RCV000654364	p.Ala677Thr	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113103C>T	ClinVar
RCV000230060	p.Ser678Phe	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113099G>A	ClinVar
rs377269341	p.Ser678Ala	missense variant	-	NC_000014.9:g.95113100A>C	ESP
RCV000573377	p.Ser678Phe	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95113099G>A	ClinVar
RCV000460461	p.Ser678Ala	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113100A>C	ClinVar
rs544623004	p.Ser678Phe	missense variant	-	NC_000014.9:g.95113099G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1224940599	p.Ile679Val	missense variant	-	NC_000014.9:g.95113097T>C	gnomAD
RCV000476569	p.Val680Ile	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95113094C>T	ClinVar
COSM959269	p.Val680Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95113093A>G	NCI-TCGA Cosmic
RCV000571758	p.Val680Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95113094C>T	ClinVar
rs201883449	p.Val680Ile	missense variant	-	NC_000014.9:g.95113094C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000654376	p.Pro682Gln	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95112243G>T	ClinVar
rs752621393	p.Pro682Gln	missense variant	-	NC_000014.9:g.95112243G>T	-
RCV000549330	p.Pro683Arg	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95112240G>C	ClinVar
rs373914672	p.Pro683Arg	missense variant	-	NC_000014.9:g.95112240G>C	ESP,ExAC,TOPMed,gnomAD
rs1319798252	p.Met684Thr	missense variant	-	NC_000014.9:g.95112237A>G	gnomAD
rs142300389	p.Met684Val	missense variant	-	NC_000014.9:g.95112238T>C	ESP,ExAC,TOPMed,gnomAD
RCV000567909	p.Met684Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95112237A>G	ClinVar
rs142300389	p.Met684Leu	missense variant	-	NC_000014.9:g.95112238T>A	ESP,ExAC,TOPMed,gnomAD
rs1003714112	p.Ser685Cys	missense variant	-	NC_000014.9:g.95112235T>A	TOPMed
NCI-TCGA novel	p.Ser685Asn	missense variant	-	NC_000014.9:g.95112234C>T	NCI-TCGA
rs769510378	p.Cys686Tyr	missense variant	-	NC_000014.9:g.95112231C>T	ExAC,gnomAD
NCI-TCGA novel	p.Val687Ala	missense variant	-	NC_000014.9:g.95112228A>G	NCI-TCGA
RCV000493794	p.Arg688Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95112226G>A	ClinVar
RCV000240958	p.Arg688Ter	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95112226G>A	ClinVar
RCV000467565	p.Arg688Gln	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95112225C>T	ClinVar
RCV000567747	p.Arg688Gln	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95112225C>T	ClinVar
RCV000384144	p.Arg688Ter	nonsense	-	NC_000014.9:g.95112226G>A	ClinVar
rs542398644	p.Arg688Leu	missense variant	-	NC_000014.9:g.95112225C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs886037684	p.Arg688Ter	stop gained	-	NC_000014.9:g.95112226G>A	gnomAD
rs542398644	p.Arg688Gln	missense variant	-	NC_000014.9:g.95112225C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1158581801	p.Glu691Gln	missense variant	-	NC_000014.9:g.95112217C>G	gnomAD
RCV000567897	p.Arg692Lys	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95112213C>T	ClinVar
RCV000685928	p.Arg692Lys	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95112213C>T	ClinVar
rs1555371838	p.Arg692Lys	missense variant	-	NC_000014.9:g.95112213C>T	-
rs770652592	p.Val694Ile	missense variant	-	NC_000014.9:g.95112208C>T	ExAC,TOPMed,gnomAD
COSM3815607	p.Ala695Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95112204G>A	NCI-TCGA Cosmic
rs746941761	p.Ile697Met	missense variant	-	NC_000014.9:g.95112197A>C	ExAC,gnomAD
rs1168346305	p.Cys699Gly	missense variant	-	NC_000014.9:g.95112193A>C	gnomAD
RCV000526994	p.Glu700Gly	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95112189T>C	ClinVar
rs376691754	p.Glu700Gly	missense variant	-	NC_000014.9:g.95112189T>C	ESP,ExAC,gnomAD
rs1555371818	p.Leu702Val	missense variant	-	NC_000014.9:g.95112184G>C	-
RCV000537187	p.Leu702Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95112184G>C	ClinVar
RCV000692763	p.Lys704Arg	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95112177T>C	ClinVar
RCV000575302	p.Lys704Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95112177T>C	ClinVar
rs749428279	p.Lys704Arg	missense variant	-	NC_000014.9:g.95112177T>C	ExAC,gnomAD
rs752868874	p.Ile705Val	missense variant	-	NC_000014.9:g.95112175T>C	ExAC,gnomAD
RCV000792504	p.Glu707Lys	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111454C>T	ClinVar
rs1555371642	p.Glu707Lys	missense variant	-	NC_000014.9:g.95111454C>T	-
RCV000562699	p.Glu707Lys	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95111454C>T	ClinVar
rs911090648	p.Pro714Thr	missense variant	-	NC_000014.9:g.95111433G>T	TOPMed
rs1254898247	p.Val715Phe	missense variant	-	NC_000014.9:g.95111430C>A	gnomAD
RCV000570251	p.Glu718Asp	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95111419C>G	ClinVar
RCV000540972	p.Glu718Asp	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111419C>G	ClinVar
rs1555371628	p.Glu718Asp	missense variant	-	NC_000014.9:g.95111419C>G	-
RCV000493808	p.Thr719Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95111415_95111416del	ClinVar
RCV000240883	p.Thr719Ter	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111415_95111416del	ClinVar
rs1342513692	p.Thr719Ser	missense variant	-	NC_000014.9:g.95111417G>C	gnomAD
rs997546722	p.Asp727Gly	missense variant	-	NC_000014.9:g.95111393T>C	-
rs1376232943	p.Leu728Phe	missense variant	-	NC_000014.9:g.95111389C>G	TOPMed
RCV000468577	p.His729Arg	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111387T>C	ClinVar
rs748084431	p.His729Arg	missense variant	-	NC_000014.9:g.95111387T>C	ExAC,gnomAD
RCV000494351	p.Asp730PheAlaTer	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95111386_95111392dup	ClinVar
rs780069801	p.Asp730Gly	missense variant	-	NC_000014.9:g.95111384T>C	ExAC,gnomAD
RCV000460175	p.Glu731Lys	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111382C>T	ClinVar
rs1555371605	p.Glu732Gly	missense variant	-	NC_000014.9:g.95111378T>C	-
NCI-TCGA novel	p.Glu732Ter	stop gained	-	NC_000014.9:g.95111379C>A	NCI-TCGA
RCV000654457	p.Glu732Gly	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111378T>C	ClinVar
RCV000467449	p.Thr734Ser	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111372G>C	ClinVar
RCV000555693	p.Thr734Ter	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111374_95111375CT[3]	ClinVar
rs781312991	p.Thr734Ser	missense variant	-	NC_000014.9:g.95111372G>C	ExAC,TOPMed,gnomAD
rs1039684913	p.Ser735Gly	missense variant	-	NC_000014.9:g.95111370T>C	-
COSM3499493	p.Pro737Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95111363G>A	NCI-TCGA Cosmic
rs778284198	p.Pro737Ala	missense variant	-	NC_000014.9:g.95111364G>C	ExAC,TOPMed,gnomAD
rs778284198	p.Pro737Ser	missense variant	-	NC_000014.9:g.95111364G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser742Thr	missense variant	-	NC_000014.9:g.95111349A>T	NCI-TCGA
RCV000471984	p.Thr743Met	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111345G>A	ClinVar
rs758932000	p.Thr743Met	missense variant	-	NC_000014.9:g.95111345G>A	ExAC,gnomAD
RCV000459736	p.Arg745Ter	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111340G>A	ClinVar
NCI-TCGA novel	p.Arg745Gln	missense variant	-	NC_000014.9:g.95111339C>T	NCI-TCGA
rs1060503584	p.Arg745Ter	stop gained	-	NC_000014.9:g.95111340G>A	-
RCV000240921	p.Arg746Gly	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111337T>C	ClinVar
rs886037686	p.Arg746Gly	missense variant	-	NC_000014.9:g.95111337T>C	-
RCV000240962	p.Cys748Ter	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111329_95111330delinsTT	ClinVar
RCV000240899	p.Cys748Ter	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111329_95111330insTAGT	ClinVar
RCV000494492	p.Cys748Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95111329_95111330delinsTT	ClinVar
rs886037687	p.Cys748Ter	stop gained	-	NC_000014.9:g.95111329_95111330delinsTT	-
rs886037688	p.Cys748TerLeuUnk	stop gained	-	NC_000014.9:g.95111329_95111330insTAGT	-
RCV000493504	p.Tyr749Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95111326G>T	ClinVar
RCV000240935	p.Tyr749Ter	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111326G>T	ClinVar
RCV000480985	p.Tyr749Ter	nonsense	-	NC_000014.9:g.95111326G>T	ClinVar
RCV000556009	p.Tyr749Phe	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111327T>A	ClinVar
rs1309961626	p.Tyr749Phe	missense variant	-	NC_000014.9:g.95111327T>A	TOPMed
rs886037689	p.Tyr749Ter	stop gained	-	NC_000014.9:g.95111326G>T	-
RCV000226942	p.Pro750Arg	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111324G>C	ClinVar
RCV000541292	p.Pro750Ter	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95111326_95111329dup	ClinVar
rs878855249	p.Pro750Arg	missense variant	-	NC_000014.9:g.95111324G>C	-
RCV000561928	p.Glu755Lys	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95108497C>T	ClinVar
rs1555370957	p.Glu755Lys	missense variant	-	NC_000014.9:g.95108497C>T	-
RCV000654402	p.Leu757Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108491A>C	ClinVar
rs1555370956	p.Leu757Val	missense variant	-	NC_000014.9:g.95108491A>C	-
rs1288856698	p.Asp759Val	missense variant	-	NC_000014.9:g.95108484T>A	TOPMed
RCV000471625	p.Ser760Asn	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108481C>T	ClinVar
rs761639070	p.Ser760Arg	missense variant	-	NC_000014.9:g.95108482T>G	ExAC,TOPMed,gnomAD
rs1060503621	p.Ser760Asn	missense variant	-	NC_000014.9:g.95108481C>T	-
COSM4820787	p.Arg763Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95108472C>T	NCI-TCGA Cosmic
RCV000544525	p.Arg763Thr	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108472C>G	ClinVar
rs774344152	p.Arg763Thr	missense variant	-	NC_000014.9:g.95108472C>G	ExAC,gnomAD
NCI-TCGA novel	p.Pro764Ser	missense variant	-	NC_000014.9:g.95108470G>A	NCI-TCGA
rs940468676	p.Gln766Arg	missense variant	-	NC_000014.9:g.95108463T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Gln766Lys	missense variant	-	NC_000014.9:g.95108464G>T	NCI-TCGA
rs1283309784	p.Pro767Ser	missense variant	-	NC_000014.9:g.95108461G>A	TOPMed
rs764001016	p.Pro767His	missense variant	-	NC_000014.9:g.95108460G>T	ExAC,gnomAD
rs776530416	p.Tyr769Ter	stop gained	-	NC_000014.9:g.95108453G>C	ExAC,gnomAD
rs1060503618	p.Val776Gly	missense variant	-	NC_000014.9:g.95108433A>C	-
RCV000463888	p.Val776Gly	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108433A>C	ClinVar
COSM433549	p.Val776Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95108434C>A	NCI-TCGA Cosmic
rs1555370931	p.Thr779Ala	missense variant	-	NC_000014.9:g.95108425T>C	-
RCV000543737	p.Thr779Ala	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108425T>C	ClinVar
COSM699747	p.Pro780Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95108421G>A	NCI-TCGA Cosmic
RCV000493374	p.Glu784Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95108410C>A	ClinVar
rs1131691210	p.Glu784Ter	stop gained	-	NC_000014.9:g.95108410C>A	-
rs367950170	p.Phe787Leu	missense variant	-	NC_000014.9:g.95108399A>C	TOPMed,gnomAD
RCV000703508	p.Arg789Lys	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108394C>T	ClinVar
rs762784970	p.Arg790Gln	missense variant	-	NC_000014.9:g.95108391C>T	-
rs748518606	p.Lys791Arg	missense variant	-	NC_000014.9:g.95108388T>C	ExAC,gnomAD
RCV000654467	p.Leu792Ter	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108388_95108391dup	ClinVar
RCV000566994	p.Tyr793Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95108382T>C	ClinVar
RCV000463608	p.Tyr793Cys	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108382T>C	ClinVar
rs527568726	p.Tyr793Cys	missense variant	-	NC_000014.9:g.95108382T>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000462319	p.Pro794Ser	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108380G>A	ClinVar
rs1060503620	p.Pro794Ser	missense variant	-	NC_000014.9:g.95108380G>A	-
rs755375348	p.Asp797Gly	missense variant	-	NC_000014.9:g.95108370T>C	ExAC,gnomAD
RCV000546389	p.Asp797Gly	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108370T>C	ClinVar
RCV000563012	p.Asp797Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95108370T>C	ClinVar
RCV000240963	p.Thr798Ter	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108368dup	ClinVar
RCV000240963	p.del798del	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108368dup	ClinVar
RCV000493145	p.Thr798Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95108368dup	ClinVar
RCV000493145	p.del798del	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95108368dup	ClinVar
rs1191387730	p.Thr798Ala	missense variant	-	NC_000014.9:g.95108368T>C	gnomAD
RCV000564417	p.Arg800Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95108362T>C	ClinVar
RCV000493596	p.Arg800Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95108361del	ClinVar
rs1555370905	p.Arg800Gly	missense variant	-	NC_000014.9:g.95108362T>C	-
RCV000463309	p.Cys801Gly	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108359A>C	ClinVar
rs1060503599	p.Cys801Gly	missense variant	-	NC_000014.9:g.95108359A>C	TOPMed,gnomAD
RCV000467724	p.Thr806Met	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108343G>A	ClinVar
rs749834289	p.Thr806Met	missense variant	-	NC_000014.9:g.95108343G>A	ExAC,TOPMed,gnomAD
rs1232785791	p.Lys808Ile	missense variant	-	NC_000014.9:g.95108337T>A	gnomAD
NCI-TCGA novel	p.Lys808Thr	missense variant	-	NC_000014.9:g.95108337T>G	NCI-TCGA
RCV000566847	p.Ile810Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95108332T>C	ClinVar
NCI-TCGA novel	p.Ile810Thr	missense variant	-	NC_000014.9:g.95108331A>G	NCI-TCGA
rs1555370881	p.Ile810Val	missense variant	-	NC_000014.9:g.95108332T>C	-
COSM4053290	p.Pro811His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95108328G>T	NCI-TCGA Cosmic
RCV000556511	p.Gln812Arg	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108325T>C	ClinVar
rs750049051	p.Gln812Arg	missense variant	-	NC_000014.9:g.95108325T>C	ExAC,gnomAD
rs750049051	p.Gln812Pro	missense variant	-	NC_000014.9:g.95108325T>G	ExAC,gnomAD
rs1354652606	p.Ile813Val	missense variant	-	NC_000014.9:g.95108093T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Ile813Ser	missense variant	-	NC_000014.9:g.95108092A>C	NCI-TCGA
NCI-TCGA novel	p.Phe816IlePheSerTerUnkUnk	frameshift	-	NC_000014.9:g.95108084_95108085insCCTTGAAGAT	NCI-TCGA
rs774540239	p.Pro817Ala	missense variant	-	NC_000014.9:g.95108081G>C	ExAC,gnomAD
RCV000562879	p.Tyr819His	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95108075A>G	ClinVar
rs1238286921	p.Tyr819His	missense variant	-	NC_000014.9:g.95108075A>G	TOPMed,gnomAD
rs1328529319	p.Thr826Ala	missense variant	-	NC_000014.9:g.95108054T>C	TOPMed
COSM3499492	p.Ser828Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95108047G>A	NCI-TCGA Cosmic
RCV000654378	p.Ile829Thr	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108044A>G	ClinVar
RCV000654368	p.Ile829Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108045T>C	ClinVar
rs1038939677	p.Ile829Val	missense variant	-	NC_000014.9:g.95108045T>C	TOPMed
rs1555370828	p.Ile829Thr	missense variant	-	NC_000014.9:g.95108044A>G	-
RCV000465553	p.Lys832Glu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108036T>C	ClinVar
RCV000765198	p.Lys832Glu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108036T>C	ClinVar
RCV000340356	p.Lys832Asn	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95108034C>G	ClinVar
rs769292296	p.Lys832Asn	missense variant	-	NC_000014.9:g.95108034C>G	ExAC,gnomAD
rs1060503613	p.Lys832Glu	missense variant	-	NC_000014.9:g.95108036T>C	-
rs780581268	p.Lys832Arg	missense variant	-	NC_000014.9:g.95108035T>C	ExAC,gnomAD
RCV000476393	p.Phe836Ter	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108022_95108023del	ClinVar
RCV000689913	p.Phe836Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108024A>C	ClinVar
rs1360646143	p.Met837Ile	missense variant	-	NC_000014.9:g.95108019C>A	gnomAD
rs745444772	p.Leu838Val	missense variant	-	NC_000014.9:g.95108018A>C	ExAC,gnomAD
RCV000023526	p.Ser839Phe	missense variant	Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors (MNG1)	NC_000014.9:g.95108014G>A	ClinVar
rs387906934	p.Ser839Phe	missense variant	Goiter multinodular 1, with or without Sertoli-Leydig cell tumors (MNG1)	NC_000014.9:g.95108014G>A	UniProt,dbSNP
VAR_065301	p.Ser839Phe	missense variant	Goiter multinodular 1, with or without Sertoli-Leydig cell tumors (MNG1)	NC_000014.9:g.95108014G>A	UniProt
rs387906934	p.Ser839Phe	missense variant	-	NC_000014.9:g.95108014G>A	-
RCV000706036	p.Gln841Arg	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95108008T>C	ClinVar
rs1417502290	p.Gln841Arg	missense variant	-	NC_000014.9:g.95108008T>C	gnomAD
RCV000561754	p.Leu843Phe	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95108003G>A	ClinVar
rs1555370815	p.Leu843Phe	missense variant	-	NC_000014.9:g.95108003G>A	-
RCV000654374	p.Leu845Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107997A>C	ClinVar
rs1182299033	p.Leu845Val	missense variant	-	NC_000014.9:g.95107997A>C	TOPMed,gnomAD
RCV000765197	p.Ile846Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107994T>C	ClinVar
RCV000560280	p.Ile846Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107994T>C	ClinVar
RCV000566427	p.Ile846Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95107994T>C	ClinVar
rs201212908	p.Ile846Val	missense variant	-	NC_000014.9:g.95107994T>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000462537	p.Thr847Ala	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107991T>C	ClinVar
rs1060503641	p.Thr847Ala	missense variant	-	NC_000014.9:g.95107991T>C	-
NCI-TCGA novel	p.Arg848Ile	missense variant	-	NC_000014.9:g.95107987C>A	NCI-TCGA
RCV000562908	p.Tyr852Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95107975T>C	ClinVar
rs1555370802	p.Tyr852Cys	missense variant	-	NC_000014.9:g.95107975T>C	-
RCV000563365	p.Ile853Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95107973T>C	ClinVar
rs61729795	p.Ile853Val	missense variant	-	NC_000014.9:g.95107973T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000654423	p.Phe854Leu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107968G>T	ClinVar
rs1555370794	p.Phe854Leu	missense variant	-	NC_000014.9:g.95107968G>T	-
rs567006441	p.Ile857Val	missense variant	-	NC_000014.9:g.95107961T>C	gnomAD
rs1290998883	p.Ile857Thr	missense variant	-	NC_000014.9:g.95107960A>G	gnomAD
rs765333464	p.Arg859Gln	missense variant	-	NC_000014.9:g.95107954C>T	ExAC,gnomAD
rs144649926	p.Arg859Trp	missense variant	-	NC_000014.9:g.95107955G>A	ESP,gnomAD
RCV000231736	p.Arg859Trp	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107955G>A	ClinVar
NCI-TCGA novel	p.Ala864Thr	missense variant	-	NC_000014.9:g.95107940C>T	NCI-TCGA
RCV000686840	p.Thr870Ala	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107922T>C	ClinVar
RCV000528728	p.Asp871Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107918T>A	ClinVar
rs759827733	p.Asp871Glu	missense variant	-	NC_000014.9:g.95107917G>C	ExAC,TOPMed,gnomAD
rs1555370776	p.Asp871Val	missense variant	-	NC_000014.9:g.95107918T>A	-
RCV000226630	p.Ala872Thr	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107916C>T	ClinVar
rs149242330	p.Ala872Thr	missense variant	-	NC_000014.9:g.95107916C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000570993	p.Asp873His	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95107913C>G	ClinVar
rs1555370765	p.Asp873Gly	missense variant	-	NC_000014.9:g.95107912T>C	-
rs774672421	p.Asp873His	missense variant	-	NC_000014.9:g.95107913C>G	ExAC,TOPMed,gnomAD
RCV000477212	p.Asp873His	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107913C>G	ClinVar
RCV000538878	p.Asp873Gly	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107912T>C	ClinVar
RCV000549111	p.Ala875Ser	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107907C>A	ClinVar
rs1555370761	p.Ala875Ser	missense variant	-	NC_000014.9:g.95107907C>A	-
rs1165182865	p.Tyr876Cys	missense variant	-	NC_000014.9:g.95107903T>C	gnomAD
rs1411395826	p.Cys877Ser	missense variant	-	NC_000014.9:g.95107901A>T	gnomAD
rs1456764595	p.Pro880Leu	missense variant	-	NC_000014.9:g.95107891G>A	TOPMed
rs1293281390	p.Leu881Val	missense variant	-	NC_000014.9:g.95107889G>C	TOPMed
RCV000693049	p.Asn882Asp	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107886T>C	ClinVar
RCV000654399	p.Val883Ile	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107883C>T	ClinVar
rs1407338094	p.Val883Ile	missense variant	-	NC_000014.9:g.95107883C>T	TOPMed
rs1164049706	p.Val883Ala	missense variant	-	NC_000014.9:g.95107882A>G	gnomAD
RCV000542681	p.Ser887Phe	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107752G>A	ClinVar
RCV000228429	p.Ser887Pro	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107753A>G	ClinVar
rs139441077	p.Ser887Tyr	missense variant	-	NC_000014.9:g.95107752G>T	ESP,ExAC,TOPMed,gnomAD
RCV000654456	p.Ser887Tyr	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107752G>T	ClinVar
RCV000575011	p.Ser887Phe	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95107752G>A	ClinVar
NCI-TCGA novel	p.Ser887Cys	missense variant	-	NC_000014.9:g.95107752G>C	NCI-TCGA
rs878855251	p.Ser887Pro	missense variant	-	NC_000014.9:g.95107753A>G	TOPMed
rs139441077	p.Ser887Phe	missense variant	-	NC_000014.9:g.95107752G>A	ESP,ExAC,TOPMed,gnomAD
rs1228272276	p.Asp891Gly	missense variant	-	NC_000014.9:g.95107740T>C	gnomAD
NCI-TCGA novel	p.Asp893Asn	missense variant	-	NC_000014.9:g.95107735C>T	NCI-TCGA
RCV000552892	p.Phe894Leu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107730A>C	ClinVar
rs760009604	p.Phe894Leu	missense variant	-	NC_000014.9:g.95107730A>C	ExAC,gnomAD
RCV000458127	p.Met897Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107723T>C	ClinVar
rs373729361	p.Met897Val	missense variant	-	NC_000014.9:g.95107723T>C	ESP,TOPMed
rs1302387713	p.Ile900Leu	missense variant	-	NC_000014.9:g.95107714T>G	gnomAD
rs777174247	p.Ile900Thr	missense variant	-	NC_000014.9:g.95107713A>G	ExAC,gnomAD
rs1402233762	p.Lys902Glu	missense variant	-	NC_000014.9:g.95107708T>C	gnomAD
rs1377401799	p.Lys902Arg	missense variant	-	NC_000014.9:g.95107707T>C	gnomAD
RCV000232332	p.Arg906His	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107695C>T	ClinVar
rs150510758	p.Arg906Leu	missense variant	-	NC_000014.9:g.95107695C>A	ESP,TOPMed,gnomAD
rs150510758	p.Arg906His	missense variant	-	NC_000014.9:g.95107695C>T	ESP,TOPMed,gnomAD
RCV000531168	p.Arg906Leu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107695C>A	ClinVar
RCV000654400	p.Arg906Cys	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107696G>A	ClinVar
rs770335698	p.Arg906Cys	missense variant	-	NC_000014.9:g.95107696G>A	ExAC,TOPMed,gnomAD
RCV000574505	p.Ile907Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95107692A>G	ClinVar
RCV000472819	p.Ile907Thr	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107692A>G	ClinVar
RCV000761114	p.Ile907Thr	missense variant	Acute megakaryoblastic leukemia	NC_000014.9:g.95107692A>G	ClinVar
rs200408568	p.Ile907Thr	missense variant	-	NC_000014.9:g.95107692A>G	ExAC,TOPMed,gnomAD
rs1178414622	p.Ile907Val	missense variant	-	NC_000014.9:g.95107693T>C	TOPMed,gnomAD
rs200408568	p.Ile907Arg	missense variant	-	NC_000014.9:g.95107692A>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile907Leu	missense variant	-	NC_000014.9:g.95107693T>A	NCI-TCGA
rs1178414622	p.Ile907Leu	missense variant	-	NC_000014.9:g.95107693T>G	TOPMed,gnomAD
NCI-TCGA novel	p.Gly908Val	missense variant	-	NC_000014.9:g.95107689C>A	NCI-TCGA
NCI-TCGA novel	p.Gly908Asp	missense variant	-	NC_000014.9:g.95107689C>T	NCI-TCGA
RCV000697264	p.Ile909Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107687T>C	ClinVar
rs1167073557	p.Ile909Val	missense variant	-	NC_000014.9:g.95107687T>C	TOPMed
RCV000555481	p.Ser911Asn	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107680C>T	ClinVar
COSM280383	p.Ser911Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95107680C>A	NCI-TCGA Cosmic
rs771697618	p.Ser911Asn	missense variant	-	NC_000014.9:g.95107680C>T	ExAC,TOPMed,gnomAD
RCV000472190	p.Lys913Thr	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107674T>G	ClinVar
rs1060503649	p.Lys913Arg	missense variant	-	NC_000014.9:g.95107674T>C	gnomAD
NCI-TCGA novel	p.Lys913Asn	missense variant	-	NC_000014.9:g.95107673C>G	NCI-TCGA
rs1060503649	p.Lys913Thr	missense variant	-	NC_000014.9:g.95107674T>G	gnomAD
RCV000699754	p.Tyr914Cys	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107671T>C	ClinVar
RCV000529269	p.Thr915Ala	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107669T>C	ClinVar
rs1179517249	p.Thr915Ala	missense variant	-	NC_000014.9:g.95107669T>C	gnomAD
rs747825442	p.Lys916Thr	missense variant	-	NC_000014.9:g.95107665T>G	ExAC,gnomAD
RCV000494012	p.del917del	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95107663C>A	ClinVar
RCV000494012	p.Glu917Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95107663C>A	ClinVar
RCV000240925	p.del917del	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107663C>A	ClinVar
RCV000240925	p.Glu917Ter	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107663C>A	ClinVar
rs886037692	p.Glu917Ter	stop gained	-	NC_000014.9:g.95107663C>A	-
RCV000572375	p.Thr918Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95107660T>A	ClinVar
rs377326167	p.Thr918Ser	missense variant	-	NC_000014.9:g.95107660T>A	ESP,ExAC,TOPMed,gnomAD
RCV000229873	p.Thr918Ser	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107660T>A	ClinVar
rs377326167	p.Thr918Ala	missense variant	-	NC_000014.9:g.95107660T>C	ESP,ExAC,TOPMed,gnomAD
COSM6076803	p.Val921Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95107651C>A	NCI-TCGA Cosmic
rs1357513890	p.Lys923Gln	missense variant	-	NC_000014.9:g.95107645T>G	TOPMed
RCV000460548	p.Asp926His	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95107636C>G	ClinVar
rs1060503645	p.Asp926His	missense variant	-	NC_000014.9:g.95107636C>G	-
rs1256068472	p.Val931Ile	missense variant	-	NC_000014.9:g.95107621C>T	gnomAD
rs1211667485	p.Pro934Leu	missense variant	-	NC_000014.9:g.95107611G>A	gnomAD
rs757277030	p.Arg935Lys	missense variant	-	NC_000014.9:g.95107608C>T	ExAC,gnomAD
COSM5453158	p.Arg937His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95106218C>T	NCI-TCGA Cosmic
rs1354833117	p.Arg937Cys	missense variant	-	NC_000014.9:g.95106219G>A	gnomAD
RCV000467203	p.Gln941Glu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106207G>C	ClinVar
rs1060503588	p.Gln941Glu	missense variant	-	NC_000014.9:g.95106207G>C	-
RCV000240862	p.Arg944Ter	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106198G>A	ClinVar
RCV000004727	p.Arg944Ter	nonsense	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95106198G>A	ClinVar
RCV000493701	p.Arg944Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95106198G>A	ClinVar
RCV000654383	p.Arg944Gln	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106197C>T	ClinVar
rs137852978	p.Arg944Ter	stop gained	Pleuropulmonary blastoma (ppb)	NC_000014.9:g.95106198G>A	-
rs1555370340	p.Arg944Gln	missense variant	-	NC_000014.9:g.95106197C>T	-
NCI-TCGA novel	p.Asp949Tyr	missense variant	-	NC_000014.9:g.95106183C>A	NCI-TCGA
NCI-TCGA novel	p.Tyr951His	missense variant	-	NC_000014.9:g.95106177A>G	NCI-TCGA
RCV000467314	p.Thr952Ala	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106174T>C	ClinVar
RCV000566505	p.Thr952Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95106174T>A	ClinVar
rs1060503636	p.Thr952Ser	missense variant	-	NC_000014.9:g.95106174T>A	TOPMed
rs1060503636	p.Thr952Ala	missense variant	-	NC_000014.9:g.95106174T>C	TOPMed
rs745810853	p.Asp953Asn	missense variant	-	NC_000014.9:g.95106171C>T	ExAC,gnomAD
rs1458698147	p.Leu954Phe	missense variant	-	NC_000014.9:g.95106168G>A	gnomAD
RCV000240900	p.Thr955Ter	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106165del	ClinVar
RCV000240900	p.del955del	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106165del	ClinVar
rs1167965153	p.Thr955Ile	missense variant	-	NC_000014.9:g.95106164G>A	TOPMed
RCV000240927	p.Pro956Ter	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106159_95106161delinsTT	ClinVar
RCV000240927	p.del956del	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106159_95106161delinsTT	ClinVar
RCV000466824	p.Leu957Phe	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106159G>A	ClinVar
rs1060503634	p.Leu957Phe	missense variant	-	NC_000014.9:g.95106159G>A	-
RCV000562549	p.Ser958Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95106156T>C	ClinVar
RCV000226550	p.Ser958Gly	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106156T>C	ClinVar
rs752905540	p.Ser958Gly	missense variant	-	NC_000014.9:g.95106156T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys959Ile	missense variant	-	NC_000014.9:g.95106152T>A	NCI-TCGA
NCI-TCGA novel	p.Lys959Thr	missense variant	-	NC_000014.9:g.95106152T>G	NCI-TCGA
COSM959264	p.Phe960Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95106149A>C	NCI-TCGA Cosmic
RCV000240864	p.Pro963Ter	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106139_95106140del	ClinVar
RCV000240864	p.del963del	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106139_95106140del	ClinVar
RCV000494157	p.del963del	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95106139_95106140del	ClinVar
RCV000494157	p.Pro963Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95106139_95106140del	ClinVar
rs917082902	p.Pro963Leu	missense variant	-	NC_000014.9:g.95106140G>A	TOPMed
RCV000233100	p.Ala969Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106122G>A	ClinVar
rs878855253	p.Ala969Val	missense variant	-	NC_000014.9:g.95106122G>A	-
RCV000572780	p.Glu970Gln	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95106120C>G	ClinVar
rs1555370302	p.Glu970Gln	missense variant	-	NC_000014.9:g.95106120C>G	-
rs1555370297	p.Lys973Asn	missense variant	-	NC_000014.9:g.95106109T>G	-
RCV000533030	p.Lys973Asn	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106109T>G	ClinVar
rs1227283210	p.Asn977Ser	missense variant	-	NC_000014.9:g.95106098T>C	TOPMed
NCI-TCGA novel	p.Leu978Arg	missense variant	-	NC_000014.9:g.95106095A>C	NCI-TCGA
RCV000462016	p.Asn982Lys	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106082A>T	ClinVar
RCV000696284	p.Asn982Ser	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106083T>C	ClinVar
rs1060503631	p.Asn982Lys	missense variant	-	NC_000014.9:g.95106082A>T	-
rs1376668585	p.Asn982Ser	missense variant	-	NC_000014.9:g.95106083T>C	gnomAD
rs1267003109	p.Leu983Val	missense variant	-	NC_000014.9:g.95106081G>C	gnomAD
rs1267003109	p.Leu983Phe	missense variant	-	NC_000014.9:g.95106081G>A	gnomAD
rs766675570	p.Leu983Pro	missense variant	-	NC_000014.9:g.95106080A>G	ExAC,gnomAD
rs766675570	p.Leu983Arg	missense variant	-	NC_000014.9:g.95106080A>C	ExAC,gnomAD
RCV000465498	p.Asn984Ser	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106077T>C	ClinVar
RCV000563512	p.Asn984Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95106077T>C	ClinVar
rs750932552	p.Asn984Thr	missense variant	-	NC_000014.9:g.95106077T>G	ExAC,TOPMed,gnomAD
rs750932552	p.Asn984Ser	missense variant	-	NC_000014.9:g.95106077T>C	ExAC,TOPMed,gnomAD
RCV000468167	p.Gln985Ter	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106076del	ClinVar
RCV000654466	p.Gln985Ter	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95106073delinsAA	ClinVar
rs1443445976	p.Val990Met	missense variant	-	NC_000014.9:g.95106060C>T	gnomAD
COSM959263	p.Thr993Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95106050G>A	NCI-TCGA Cosmic
rs756484303	p.Thr1001Ile	missense variant	-	NC_000014.9:g.95105769G>A	ExAC,gnomAD
RCV000465236	p.Arg1003Ter	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105764G>A	ClinVar
RCV000851456	p.Arg1003Ter	nonsense	-	NC_000014.9:g.95105764G>A	ClinVar
COSM2253693	p.Arg1003Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95105763C>T	NCI-TCGA Cosmic
rs1060503605	p.Arg1003Ter	stop gained	-	NC_000014.9:g.95105764G>A	gnomAD
RCV000492911	p.Gln1007Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95105752G>A	ClinVar
RCV000524088	p.Gln1007Ter	nonsense	-	NC_000014.9:g.95105752G>A	ClinVar
rs1131691189	p.Gln1007Ter	stop gained	-	NC_000014.9:g.95105752G>A	-
rs750927764	p.Lys1008Asn	missense variant	-	NC_000014.9:g.95105747C>A	ExAC,gnomAD
rs772243498	p.Ala1011Val	missense variant	-	NC_000014.9:g.95105739G>A	TOPMed,gnomAD
RCV000654436	p.Ala1011Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105739G>A	ClinVar
NCI-TCGA novel	p.Pro1013Thr	missense variant	-	NC_000014.9:g.95105734G>T	NCI-TCGA
NCI-TCGA novel	p.Pro1013Ser	missense variant	-	NC_000014.9:g.95105734G>A	NCI-TCGA
RCV000689357	p.Ser1016Asn	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105724C>T	ClinVar
rs762411266	p.Lys1023Arg	missense variant	-	NC_000014.9:g.95105703T>C	ExAC,gnomAD
rs751053813	p.Trp1024Leu	missense variant	-	NC_000014.9:g.95105700C>A	ExAC,gnomAD
RCV000493873	p.Glu1025Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95105698C>A	ClinVar
RCV000521958	p.Glu1025Ter	nonsense	-	NC_000014.9:g.95105698C>A	ClinVar
RCV000537842	p.Glu1025Gly	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105697T>C	ClinVar
rs1131691225	p.Glu1025Ter	stop gained	-	NC_000014.9:g.95105698C>A	-
rs1191384264	p.Glu1025Gly	missense variant	-	NC_000014.9:g.95105697T>C	gnomAD
rs763715930	p.Ser1026Gly	missense variant	-	NC_000014.9:g.95105695T>C	ExAC,gnomAD
NCI-TCGA novel	p.Gln1028Ter	stop gained	-	NC_000014.9:g.95105689G>A	NCI-TCGA
NCI-TCGA novel	p.Gln1028Leu	missense variant	-	NC_000014.9:g.95105688T>A	NCI-TCGA
NCI-TCGA novel	p.Lys1030Glu	missense variant	-	NC_000014.9:g.95105683T>C	NCI-TCGA
rs749392411	p.Glu1036Lys	missense variant	-	NC_000014.9:g.95105234C>T	ExAC,gnomAD
COSM959262	p.Ala1039Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95105224G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala1039Gly	missense variant	-	NC_000014.9:g.95105224G>C	NCI-TCGA
RCV000685635	p.Ile1040Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105222T>C	ClinVar
RCV000497463	p.Ile1040Val	missense variant	-	NC_000014.9:g.95105222T>C	ClinVar
rs1555370052	p.Ile1040Val	missense variant	-	NC_000014.9:g.95105222T>C	-
rs1195908211	p.Ile1040Met	missense variant	-	NC_000014.9:g.95105220T>C	TOPMed
RCV000561799	p.Pro1042Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95105216G>A	ClinVar
rs1555370050	p.Pro1042Ser	missense variant	-	NC_000014.9:g.95105216G>A	-
RCV000465152	p.Ile1043Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105213T>C	ClinVar
RCV000564082	p.Ile1043Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95105213T>C	ClinVar
rs1060503592	p.Ile1043Val	missense variant	-	NC_000014.9:g.95105213T>C	TOPMed,gnomAD
RCV000230898	p.Ala1045Pro	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105207C>G	ClinVar
rs878855255	p.Ala1045Pro	missense variant	-	NC_000014.9:g.95105207C>G	-
RCV000240905	p.Ser1046Ter	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105203_95105205delinsCATGAGTTCA	ClinVar
RCV000240905	p.del1046del	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105203_95105205delinsCATGAGTTCA	ClinVar
NCI-TCGA novel	p.Leu1054Phe	missense variant	-	NC_000014.9:g.95105180G>A	NCI-TCGA
RCV000691310	p.Leu1054Pro	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105179A>G	ClinVar
rs1413756805	p.Pro1055Leu	missense variant	-	NC_000014.9:g.95105176G>A	gnomAD
rs769846317	p.Ile1057Val	missense variant	-	NC_000014.9:g.95105171T>C	ExAC,gnomAD
rs976698124	p.Ile1057Met	missense variant	-	NC_000014.9:g.95105169T>C	TOPMed
RCV000558190	p.Leu1058Ile	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105168G>T	ClinVar
rs1555370024	p.Leu1058Ile	missense variant	-	NC_000014.9:g.95105168G>T	-
RCV000240943	p.Tyr1059Ter	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105167dup	ClinVar
RCV000498545	p.Arg1060Cys	missense variant	-	NC_000014.9:g.95105162G>A	ClinVar
rs1555370020	p.Arg1060Cys	missense variant	-	NC_000014.9:g.95105162G>A	-
RCV000687493	p.Arg1060Leu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105161C>A	ClinVar
rs1398724408	p.His1062Arg	missense variant	-	NC_000014.9:g.95105155T>C	TOPMed
COSM3499488	p.Cys1063Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95105153A>C	NCI-TCGA Cosmic
rs1313061695	p.Thr1066Ile	missense variant	-	NC_000014.9:g.95105143G>A	gnomAD
rs1385079711	p.Ala1067Thr	missense variant	-	NC_000014.9:g.95105141C>T	gnomAD
COSM6076805	p.Glu1068Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95105138C>T	NCI-TCGA Cosmic
RCV000472928	p.Thr1074Ile	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105119G>A	ClinVar
rs1060503653	p.Thr1074Ile	missense variant	-	NC_000014.9:g.95105119G>A	-
RCV000476968	p.Ser1076Asn	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105113C>T	ClinVar
RCV000569044	p.Ser1076Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95105112G>T	ClinVar
rs778494781	p.Ser1076Asn	missense variant	-	NC_000014.9:g.95105113C>T	ExAC,TOPMed,gnomAD
RCV000654460	p.Asp1077Asn	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105111C>T	ClinVar
rs373412959	p.Asp1077His	missense variant	-	NC_000014.9:g.95105111C>G	ESP,ExAC,gnomAD
rs373412959	p.Asp1077Asn	missense variant	-	NC_000014.9:g.95105111C>T	ESP,ExAC,gnomAD
rs1488726216	p.Ala1078Ser	missense variant	-	NC_000014.9:g.95105108C>A	gnomAD
COSM3786392	p.Val1080Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95105102C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly1081Arg	missense variant	-	NC_000014.9:g.95105099C>T	NCI-TCGA
RCV000654421	p.Arg1083Ser	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105091T>A	ClinVar
RCV000459111	p.Arg1083Thr	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105092C>G	ClinVar
rs1060503616	p.Arg1083Thr	missense variant	-	NC_000014.9:g.95105092C>G	-
rs1291112028	p.Arg1083Ser	missense variant	-	NC_000014.9:g.95105091T>A	TOPMed,gnomAD
NCI-TCGA novel	p.Pro1086LeuPheSerTerUnk	frameshift	-	NC_000014.9:g.95105083G>-	NCI-TCGA
RCV000471385	p.Ala1087Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105080G>A	ClinVar
RCV000572177	p.Ala1087Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95105080G>A	ClinVar
RCV000561162	p.Ala1087Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95105080G>C	ClinVar
RCV000551807	p.Ala1087Glu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105080G>T	ClinVar
RCV000525561	p.Ala1087Gly	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95105080G>C	ClinVar
rs180918578	p.Ala1087Val	missense variant	-	NC_000014.9:g.95105080G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs180918578	p.Ala1087Gly	missense variant	-	NC_000014.9:g.95105080G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs180918578	p.Ala1087Glu	missense variant	-	NC_000014.9:g.95105080G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs376110719	p.Asp1088Glu	missense variant	-	NC_000014.9:g.95105076A>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe1089Leu	missense variant	-	NC_000014.9:g.95105073A>C	NCI-TCGA
RCV000540270	p.Tyr1091Phe	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104124T>A	ClinVar
RCV000240881	p.Tyr1091Ter	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104123G>C	ClinVar
RCV000851457	p.Tyr1091Ter	nonsense	-	NC_000014.9:g.95104123G>C	ClinVar
rs1442769827	p.Tyr1091Phe	missense variant	-	NC_000014.9:g.95104124T>A	TOPMed,gnomAD
RCV000240906	p.Pro1092Ter	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104118_95104121del	ClinVar
RCV000493882	p.Pro1092Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95104118_95104121del	ClinVar
rs1196047547	p.Pro1092Arg	missense variant	-	NC_000014.9:g.95104121G>C	TOPMed
RCV000240906	p.del1093del	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104118_95104121del	ClinVar
RCV000493882	p.del1093del	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95104118_95104121del	ClinVar
RCV000706333	p.Gly1097Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104106C>A	ClinVar
rs1466088737	p.Gly1097Arg	missense variant	-	NC_000014.9:g.95104107C>T	gnomAD
RCV000695400	p.Lys1099Glu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104101T>C	ClinVar
rs1356351330	p.Lys1099Arg	missense variant	-	NC_000014.9:g.95104100T>C	TOPMed,gnomAD
RCV000690410	p.Lys1099Arg	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104100T>C	ClinVar
RCV000493122	p.Lys1100Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95104101del	ClinVar
RCV000493122	p.del1100del	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95104101del	ClinVar
RCV000240946	p.del1100del	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104101del	ClinVar
RCV000240946	p.Lys1100Ter	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104101del	ClinVar
rs1417728231	p.Lys1100Asn	missense variant	-	NC_000014.9:g.95104096T>G	TOPMed
RCV000553084	p.Ser1101Cys	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104094G>C	ClinVar
rs779748717	p.Ser1101Cys	missense variant	-	NC_000014.9:g.95104094G>C	ExAC,gnomAD
rs750159753	p.Ile1102Val	missense variant	-	NC_000014.9:g.95104092T>C	ExAC,TOPMed,gnomAD
rs750159753	p.Ile1102Phe	missense variant	-	NC_000014.9:g.95104092T>A	ExAC,TOPMed,gnomAD
RCV000696513	p.Asp1103Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104088T>A	ClinVar
RCV000654384	p.Ser1104Arg	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104084G>C	ClinVar
rs1555369738	p.Ser1104Arg	missense variant	-	NC_000014.9:g.95104084G>C	-
NCI-TCGA novel	p.Lys1105Thr	missense variant	-	NC_000014.9:g.95104082T>G	NCI-TCGA
rs761613375	p.Ser1106Tyr	missense variant	-	NC_000014.9:g.95104079G>T	ExAC,gnomAD
rs751551790	p.Ile1108Val	missense variant	-	NC_000014.9:g.95104074T>C	ExAC,gnomAD
RCV000561530	p.Ile1110Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95104067A>C	ClinVar
RCV000697698	p.Ile1110Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104068T>C	ClinVar
rs759760077	p.Ile1110Ser	missense variant	-	NC_000014.9:g.95104067A>C	ExAC,gnomAD
RCV000458245	p.Ile1110Ser	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104067A>C	ClinVar
RCV000280432	p.Asn1112Asp	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95104062T>C	ClinVar
RCV000462299	p.Asn1112Asp	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104062T>C	ClinVar
rs587778229	p.Asn1112Asp	missense variant	-	NC_000014.9:g.95104062T>C	ExAC,TOPMed,gnomAD
RCV000571981	p.Ser1113Tyr	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95104058G>T	ClinVar
RCV000476785	p.Ser1113Tyr	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104058G>T	ClinVar
rs143841809	p.Ser1113Tyr	missense variant	-	NC_000014.9:g.95104058G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs143841809	p.Ser1113Phe	missense variant	-	NC_000014.9:g.95104058G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000687116	p.Ser1114Cys	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104055G>C	ClinVar
rs1278843875	p.Ser1114Cys	missense variant	-	NC_000014.9:g.95104055G>C	gnomAD
rs1255583940	p.Ser1115Ter	stop gained	-	NC_000014.9:g.95104052G>C	TOPMed,gnomAD
RCV000493717	p.Ala1116Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95104051dup	ClinVar
rs1236050119	p.Ala1116Asp	missense variant	-	NC_000014.9:g.95104049G>T	gnomAD
RCV000468408	p.Glu1117Ter	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104047C>A	ClinVar
rs1060503617	p.Glu1117Ter	stop gained	-	NC_000014.9:g.95104047C>A	-
RCV000471510	p.Asn1118Ser	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104043T>C	ClinVar
rs773410751	p.Asn1118Ser	missense variant	-	NC_000014.9:g.95104043T>C	ExAC,gnomAD
rs1555369701	p.Asn1120Ser	missense variant	-	NC_000014.9:g.95104037T>C	-
RCV000654468	p.Asn1120Ser	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104037T>C	ClinVar
NCI-TCGA novel	p.Asn1120His	missense variant	-	NC_000014.9:g.95104038T>G	NCI-TCGA
RCV000552304	p.Cys1122Arg	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104032A>G	ClinVar
rs1555369696	p.Cys1122Arg	missense variant	-	NC_000014.9:g.95104032A>G	-
rs534996867	p.His1124Pro	missense variant	-	NC_000014.9:g.95104025T>G	1000Genomes,ExAC,gnomAD
RCV000234636	p.Ser1125Asn	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104022C>T	ClinVar
RCV000568324	p.Ser1125Asn	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95104022C>T	ClinVar
rs748581847	p.Ser1125Asn	missense variant	-	NC_000014.9:g.95104022C>T	ExAC,gnomAD
rs1296404230	p.Thr1126Ala	missense variant	-	NC_000014.9:g.95104020T>C	gnomAD
RCV000476694	p.Ile1127Ser	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104016A>C	ClinVar
RCV000564833	p.Ile1127Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95104016A>C	ClinVar
RCV000530594	p.Ile1127Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104017T>C	ClinVar
rs779530679	p.Ile1127Val	missense variant	-	NC_000014.9:g.95104017T>C	ExAC,gnomAD
rs567895583	p.Ile1127Ser	missense variant	-	NC_000014.9:g.95104016A>C	1000Genomes,ExAC,gnomAD
rs1175693367	p.Pro1129Ser	missense variant	-	NC_000014.9:g.95104011G>A	gnomAD
rs748728275	p.Glu1130Ala	missense variant	-	NC_000014.9:g.95104007T>G	ExAC,gnomAD
rs1555369685	p.Glu1130Lys	missense variant	-	NC_000014.9:g.95104008C>T	-
RCV000654471	p.Glu1130Lys	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104008C>T	ClinVar
RCV000468980	p.Asn1131Ser	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95104004T>C	ClinVar
rs200651335	p.Asn1131Ser	missense variant	-	NC_000014.9:g.95104004T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000563850	p.Ala1133Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103999C>T	ClinVar
rs1555369675	p.Ala1133Thr	missense variant	-	NC_000014.9:g.95103999C>T	-
rs1159674119	p.His1134Leu	missense variant	-	NC_000014.9:g.95103995T>A	TOPMed,gnomAD
RCV000654377	p.Gln1135Lys	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103993G>T	ClinVar
rs755711684	p.Gln1135Lys	missense variant	-	NC_000014.9:g.95103993G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln1135Glu	missense variant	-	NC_000014.9:g.95103993G>C	NCI-TCGA
RCV000572785	p.Arg1139Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103979T>A	ClinVar
rs750104632	p.Arg1139Ser	missense variant	-	NC_000014.9:g.95103979T>A	ExAC,TOPMed,gnomAD
RCV000456808	p.Arg1139Ser	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103979T>A	ClinVar
RCV000477099	p.Ser1141Phe	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103974G>A	ClinVar
RCV000570654	p.Ser1141Phe	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103974G>A	ClinVar
rs780815020	p.Ser1141Phe	missense variant	-	NC_000014.9:g.95103974G>A	ExAC,TOPMed,gnomAD
RCV000699665	p.Ser1142Pro	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103972A>G	ClinVar
rs1212563071	p.Ser1142Phe	missense variant	-	NC_000014.9:g.95103971G>A	gnomAD
rs1257619891	p.Ser1142Pro	missense variant	-	NC_000014.9:g.95103972A>G	TOPMed,gnomAD
RCV000564869	p.Leu1143Pro	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103968A>G	ClinVar
rs139786661	p.Leu1143Pro	missense variant	-	NC_000014.9:g.95103968A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs375211466	p.Leu1143Ile	missense variant	-	NC_000014.9:g.95103969G>T	ESP,ExAC,TOPMed,gnomAD
RCV000686020	p.His1146Arg	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103959T>C	ClinVar
rs1240541454	p.His1146Asp	missense variant	-	NC_000014.9:g.95103960G>C	gnomAD
COSM3793992	p.Gln1148Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95103954G>C	NCI-TCGA Cosmic
rs764029077	p.Gln1148Arg	missense variant	-	NC_000014.9:g.95103953T>C	ExAC,gnomAD
RCV000557215	p.Met1149Ile	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103949C>G	ClinVar
rs1304695583	p.Met1149Ile	missense variant	-	NC_000014.9:g.95103949C>G	gnomAD
rs1304695583	p.Met1149Ile	missense variant	-	NC_000014.9:g.95103949C>T	gnomAD
RCV000701612	p.Ser1150Phe	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103947G>A	ClinVar
RCV000564921	p.Val1151Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103943_95103944CA[1]	ClinVar
rs1321219152	p.Val1151Ala	missense variant	-	NC_000014.9:g.95103944A>G	TOPMed
RCV000468990	p.Cys1153Gly	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103939A>C	ClinVar
RCV000654401	p.Cys1153Phe	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103938C>A	ClinVar
rs762999390	p.Cys1153Tyr	missense variant	-	NC_000014.9:g.95103938C>T	ExAC,TOPMed,gnomAD
rs1060503607	p.Cys1153Gly	missense variant	-	NC_000014.9:g.95103939A>C	-
rs762999390	p.Cys1153Phe	missense variant	-	NC_000014.9:g.95103938C>A	ExAC,TOPMed,gnomAD
RCV000530978	p.Arg1154Ile	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103935C>A	ClinVar
RCV000545736	p.Arg1154Ser	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103934T>G	ClinVar
rs192822778	p.Arg1154Ser	missense variant	-	NC_000014.9:g.95103934T>G	1000Genomes,ExAC,gnomAD
rs1555369626	p.Arg1154Ile	missense variant	-	NC_000014.9:g.95103935C>A	-
rs766598800	p.Thr1155Met	missense variant	-	NC_000014.9:g.95103932G>A	ExAC,gnomAD
RCV000206633	p.Leu1156Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103930A>C	ClinVar
rs760950917	p.Leu1156Val	missense variant	-	NC_000014.9:g.95103930A>C	ExAC,gnomAD
RCV000654371	p.Ser1158Cys	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103924T>A	ClinVar
rs949633145	p.Ser1158Cys	missense variant	-	NC_000014.9:g.95103924T>A	TOPMed,gnomAD
RCV000654385	p.Glu1159Lys	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103921C>T	ClinVar
rs145693584	p.Glu1159Lys	missense variant	-	NC_000014.9:g.95103921C>T	ESP,ExAC,TOPMed,gnomAD
rs145693584	p.Glu1159Gln	missense variant	-	NC_000014.9:g.95103921C>G	ESP,ExAC,TOPMed,gnomAD
RCV000565593	p.Ser1160Tyr	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103917G>T	ClinVar
rs1354557070	p.Ser1160Thr	missense variant	-	NC_000014.9:g.95103918A>T	TOPMed
rs774583162	p.Ser1160Tyr	missense variant	-	NC_000014.9:g.95103917G>T	ExAC,TOPMed,gnomAD
RCV000228406	p.Ser1160Tyr	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103917G>T	ClinVar
rs1476564840	p.Pro1161Ser	missense variant	-	NC_000014.9:g.95103915G>A	gnomAD
rs1287752405	p.Gly1162Ser	missense variant	-	NC_000014.9:g.95103912C>T	TOPMed
rs1424957932	p.Leu1164His	missense variant	-	NC_000014.9:g.95103905A>T	gnomAD
rs372581591	p.His1165Gln	missense variant	-	NC_000014.9:g.95103901G>T	ESP,ExAC,TOPMed,gnomAD
rs372581591	p.His1165Gln	missense variant	-	NC_000014.9:g.95103901G>C	ESP,ExAC,TOPMed,gnomAD
RCV000232173	p.Val1166Ile	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103900C>T	ClinVar
rs368588781	p.Val1166Ile	missense variant	-	NC_000014.9:g.95103900C>T	ESP,ExAC,TOPMed,gnomAD
RCV000544961	p.Glu1167Asp	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103895T>A	ClinVar
RCV000654391	p.Glu1167Lys	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103897C>T	ClinVar
rs1456267980	p.Glu1167Lys	missense variant	-	NC_000014.9:g.95103897C>T	TOPMed
RCV000706636	p.Ala1170Thr	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103888C>T	ClinVar
rs1484416477	p.Ala1170Gly	missense variant	-	NC_000014.9:g.95103887G>C	gnomAD
rs953998753	p.Asp1171Gly	missense variant	-	NC_000014.9:g.95103884T>C	TOPMed
RCV000240884	p.Leu1172Ter	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103871_95103881delinsT	ClinVar
RCV000494025	p.Leu1172Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103871_95103881delinsT	ClinVar
RCV000240884	p.del1172del	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103871_95103881delinsT	ClinVar
RCV000494025	p.del1172del	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103871_95103881delinsT	ClinVar
rs1028179766	p.Leu1172Ile	missense variant	-	NC_000014.9:g.95103882G>T	TOPMed
RCV000472462	p.Thr1173Ile	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103878G>A	ClinVar
rs769329149	p.Thr1173Lys	missense variant	-	NC_000014.9:g.95103878G>T	ExAC,TOPMed,gnomAD
rs769329149	p.Thr1173Ile	missense variant	-	NC_000014.9:g.95103878G>A	ExAC,TOPMed,gnomAD
RCV000537925	p.Asn1176Ser	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103869T>C	ClinVar
rs1555369577	p.Asn1176Ser	missense variant	-	NC_000014.9:g.95103869T>C	-
RCV000563568	p.Gly1177Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103866C>A	ClinVar
rs1160985143	p.Gly1177Val	missense variant	-	NC_000014.9:g.95103866C>A	TOPMed
rs1486689185	p.Gly1177Cys	missense variant	-	NC_000014.9:g.95103867C>A	gnomAD
RCV000547588	p.Leu1178Phe	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103864G>A	ClinVar
rs780952666	p.Leu1178Phe	missense variant	-	NC_000014.9:g.95103864G>A	ExAC,gnomAD
rs1412362102	p.Leu1178Arg	missense variant	-	NC_000014.9:g.95103863A>C	TOPMed
RCV000575641	p.Ser1179Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103860G>C	ClinVar
RCV000493223	p.Ser1179Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103858_95103861AAGA[1]	ClinVar
RCV000464700	p.Ser1179Cys	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103860G>C	ClinVar
RCV000240923	p.Ser1179Ter	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103861_95103862insTT	ClinVar
RCV000240923	p.del1179del	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103861_95103862insTT	ClinVar
rs1060503585	p.Ser1179Cys	missense variant	-	NC_000014.9:g.95103860G>C	gnomAD
RCV000240949	p.Tyr1180Ter	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103857_95103858del	ClinVar
RCV000240887	p.Tyr1180Ter	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103856G>T	ClinVar
RCV000627259	p.Tyr1180Ter	nonsense	-	NC_000014.9:g.95103856G>T	ClinVar
RCV000494658	p.Tyr1180Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103856G>T	ClinVar
RCV000492848	p.Tyr1180Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103857_95103858del	ClinVar
rs886037704	p.Tyr1180Ter	stop gained	-	NC_000014.9:g.95103856G>T	-
rs1238231746	p.Asn1183Ser	missense variant	-	NC_000014.9:g.95103848T>C	gnomAD
RCV000573896	p.Ala1185Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103843C>T	ClinVar
RCV000761100	p.Ala1185Thr	missense variant	Acute myeloid leukemia (AML)	NC_000014.9:g.95103843C>T	ClinVar
RCV000231625	p.Ala1185Thr	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103843C>T	ClinVar
rs150514959	p.Ala1185Thr	missense variant	-	NC_000014.9:g.95103843C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000536034	p.Asn1186Ser	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103839T>C	ClinVar
rs201523588	p.Asn1186Ser	missense variant	-	NC_000014.9:g.95103839T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs201523588	p.Asn1186Ile	missense variant	-	NC_000014.9:g.95103839T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs559078811	p.Gly1187Asp	missense variant	-	NC_000014.9:g.95103836C>T	1000Genomes,ExAC,gnomAD
rs1258777784	p.Tyr1189Asn	missense variant	-	NC_000014.9:g.95103831A>T	gnomAD
rs1316149579	p.Leu1191Phe	missense variant	-	NC_000014.9:g.95103823T>G	gnomAD
RCV000765196	p.Asn1193Ser	missense variant	Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors (MNG1)	NC_000014.9:g.95103818T>C	ClinVar
RCV000240911	p.Asn1193Ter	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103817_95103818del	ClinVar
rs1383245596	p.Asn1193Asp	missense variant	-	NC_000014.9:g.95103819T>C	gnomAD
RCV000690265	p.Asn1193Ser	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103818T>C	ClinVar
rs1288723916	p.Asn1193Ser	missense variant	-	NC_000014.9:g.95103818T>C	TOPMed,gnomAD
rs766545351	p.Arg1194Gly	missense variant	-	NC_000014.9:g.95103816T>C	ExAC,gnomAD
RCV000569208	p.Asp1195His	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103813C>G	ClinVar
COSM959261	p.Asp1195Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95103813C>T	NCI-TCGA Cosmic
rs1555369546	p.Asp1195His	missense variant	-	NC_000014.9:g.95103813C>G	-
RCV000240953	p.del1197del	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103810del	ClinVar
RCV000240953	p.Cys1197Ter	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103810del	ClinVar
RCV000492875	p.del1197del	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103810del	ClinVar
RCV000492875	p.Cys1197Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103810del	ClinVar
RCV000698895	p.Cys1197Ter	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103805G>T	ClinVar
rs966682402	p.Asn1200Asp	missense variant	-	NC_000014.9:g.95103798T>C	gnomAD
RCV000689751	p.Gln1201Glu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103795G>C	ClinVar
COSM699749	p.Asn1203Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95103789T>A	NCI-TCGA Cosmic
RCV000056333	p.Tyr1204Ter	frameshift	Rhabdomyosarcoma, embryonal, 2 (RMSE2)	NC_000014.9:g.95103780_95103785delinsA	ClinVar
RCV000386930	p.Lys1206Glu	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95103780T>C	ClinVar
rs886050942	p.Lys1206Glu	missense variant	-	NC_000014.9:g.95103780T>C	-
rs761954648	p.Lys1206Arg	missense variant	-	NC_000014.9:g.95103779T>C	ExAC,gnomAD
RCV000466992	p.Pro1210Ser	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103768G>A	ClinVar
RCV000570577	p.Pro1210Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103768G>A	ClinVar
rs200925349	p.Pro1210Ser	missense variant	-	NC_000014.9:g.95103768G>A	TOPMed
RCV000525096	p.Val1211Met	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103765C>T	ClinVar
RCV000568526	p.Val1211Met	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103765C>T	ClinVar
RCV000474677	p.Val1211Leu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103765C>G	ClinVar
rs764470378	p.Val1211Leu	missense variant	-	NC_000014.9:g.95103765C>A	ExAC,TOPMed,gnomAD
rs764470378	p.Val1211Leu	missense variant	-	NC_000014.9:g.95103765C>G	ExAC,TOPMed,gnomAD
RCV000571532	p.Val1211Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103765C>A	ClinVar
rs764470378	p.Val1211Met	missense variant	-	NC_000014.9:g.95103765C>T	ExAC,TOPMed,gnomAD
RCV000539806	p.Gln1212Pro	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103761T>G	ClinVar
rs763415569	p.Gln1212Pro	missense variant	-	NC_000014.9:g.95103761T>G	ExAC,gnomAD
RCV000554547	p.Pro1213Ala	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103759G>C	ClinVar
rs965289045	p.Pro1213Ala	missense variant	-	NC_000014.9:g.95103759G>C	TOPMed,gnomAD
RCV000654473	p.Thr1214Ile	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103755G>A	ClinVar
rs769277842	p.Thr1214Ile	missense variant	-	NC_000014.9:g.95103755G>A	ExAC,gnomAD
RCV000528300	p.Thr1214Ala	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103756T>C	ClinVar
rs776023608	p.Thr1214Ala	missense variant	-	NC_000014.9:g.95103756T>C	ExAC,TOPMed,gnomAD
RCV000570947	p.Thr1214Ala	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103756T>C	ClinVar
NCI-TCGA novel	p.Ser1216Leu	missense variant	-	NC_000014.9:g.95103749G>A	NCI-TCGA
RCV000540029	p.Ser1218Cys	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103743G>C	ClinVar
RCV000706017	p.Ser1218Tyr	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103743G>T	ClinVar
rs1197755223	p.Ser1218Cys	missense variant	-	NC_000014.9:g.95103743G>C	TOPMed
RCV000240890	p.Gln1220Ter	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103738G>A	ClinVar
rs776020604	p.Gln1220Pro	missense variant	-	NC_000014.9:g.95103737T>G	ExAC,TOPMed,gnomAD
RCV000654404	p.Gln1220Pro	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103737T>G	ClinVar
RCV000494215	p.Gln1220Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103738G>A	ClinVar
rs886037707	p.Gln1220Ter	stop gained	-	NC_000014.9:g.95103738G>A	-
rs776020604	p.Gln1220Arg	missense variant	-	NC_000014.9:g.95103737T>C	ExAC,TOPMed,gnomAD
RCV000461690	p.Tyr1223His	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103729A>G	ClinVar
rs1006671935	p.Tyr1223His	missense variant	-	NC_000014.9:g.95103729A>G	-
RCV000554774	p.Ser1224Asn	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103725C>T	ClinVar
rs1555369495	p.Ser1224Asn	missense variant	-	NC_000014.9:g.95103725C>T	-
rs146584765	p.Tyr1225Cys	missense variant	-	NC_000014.9:g.95103722T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs184830847	p.Tyr1225Ter	stop gained	-	NC_000014.9:g.95103721G>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000330036	p.Tyr1225Cys	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95103722T>C	ClinVar
RCV000494286	p.Tyr1225Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103721G>C	ClinVar
RCV000569335	p.Glu1226Lys	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103720C>T	ClinVar
RCV000240916	p.del1226del	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103720C>A	ClinVar
RCV000464309	p.Glu1226Lys	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103720C>T	ClinVar
RCV000240916	p.Glu1226Ter	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103720C>A	ClinVar
RCV000823417	p.Glu1226Ala	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103719T>G	ClinVar
RCV000561188	p.Glu1226Ala	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103719T>G	ClinVar
rs748087536	p.Glu1226Ter	stop gained	-	NC_000014.9:g.95103720C>A	ExAC,TOPMed,gnomAD
rs748087536	p.Glu1226Lys	missense variant	-	NC_000014.9:g.95103720C>T	ExAC,TOPMed,gnomAD
rs779062746	p.Glu1226Ala	missense variant	-	NC_000014.9:g.95103719T>G	ExAC,TOPMed,gnomAD
RCV000533075	p.Asn1227Lys	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103715G>T	ClinVar
rs750457254	p.Asn1227Lys	missense variant	-	NC_000014.9:g.95103715G>T	ExAC,TOPMed,gnomAD
RCV000761893	p.Gln1228Ter	nonsense	-	NC_000014.9:g.95103714G>A	ClinVar
rs1370940293	p.Pro1229Arg	missense variant	-	NC_000014.9:g.95103710G>C	gnomAD
RCV000699486	p.Gln1230Ter	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103708G>A	ClinVar
COSM3499484	p.Pro1231Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95103705G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro1231Leu	missense variant	-	NC_000014.9:g.95103704G>A	NCI-TCGA
RCV000469516	p.Ser1232Asn	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103701C>T	ClinVar
rs1060503597	p.Ser1232Asn	missense variant	-	NC_000014.9:g.95103701C>T	-
RCV000532307	p.Asp1233Asn	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103699C>T	ClinVar
rs1454503348	p.Asp1233Asn	missense variant	-	NC_000014.9:g.95103699C>T	TOPMed,gnomAD
RCV000564362	p.Asp1233Asn	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103699C>T	ClinVar
rs1464737401	p.Cys1235Tyr	missense variant	-	NC_000014.9:g.95103692C>T	TOPMed
rs757460313	p.Leu1237Phe	missense variant	-	NC_000014.9:g.95103687G>A	ExAC,gnomAD
RCV000472528	p.Leu1238Pro	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103683A>G	ClinVar
rs1060503603	p.Leu1238Pro	missense variant	-	NC_000014.9:g.95103683A>G	-
rs751765488	p.Ser1239Gly	missense variant	-	NC_000014.9:g.95103681T>C	ExAC,gnomAD
RCV000765195	p.Lys1241Arg	missense variant	Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors (MNG1)	NC_000014.9:g.95103674T>C	ClinVar
RCV000567535	p.Lys1241Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103674T>C	ClinVar
rs764415288	p.Lys1241Arg	missense variant	-	NC_000014.9:g.95103674T>C	ExAC,TOPMed,gnomAD
RCV000547038	p.Lys1241Arg	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103674T>C	ClinVar
RCV000494497	p.Tyr1242Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103670G>T	ClinVar
RCV000493027	p.Tyr1242Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103670G>C	ClinVar
RCV000240955	p.Tyr1242Ter	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103670G>T	ClinVar
rs886037708	p.Tyr1242Ter	stop gained	-	NC_000014.9:g.95103670G>T	gnomAD
rs1273768047	p.Tyr1242Asp	missense variant	-	NC_000014.9:g.95103672A>C	gnomAD
RCV000561586	p.Tyr1242Asp	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103672A>C	ClinVar
rs886037708	p.Tyr1242Ter	stop gained	-	NC_000014.9:g.95103670G>C	gnomAD
RCV000562517	p.Leu1243Pro	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103668A>G	ClinVar
RCV000556615	p.Leu1243Pro	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103668A>G	ClinVar
rs561584807	p.Leu1243Pro	missense variant	-	NC_000014.9:g.95103668A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1250903139	p.Asp1244His	missense variant	-	NC_000014.9:g.95103666C>G	gnomAD
RCV000459857	p.Lys1249Arg	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103650T>C	ClinVar
rs527872690	p.Lys1249Arg	missense variant	-	NC_000014.9:g.95103650T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Lys1249Thr	missense variant	-	NC_000014.9:g.95103650T>G	NCI-TCGA
rs1440770707	p.Gly1254Glu	missense variant	-	NC_000014.9:g.95103635C>T	gnomAD
rs199526737	p.Ser1255Thr	missense variant	-	NC_000014.9:g.95103632C>G	1000Genomes,ExAC,gnomAD
rs1392282413	p.Val1257Leu	missense variant	-	NC_000014.9:g.95103627C>A	gnomAD
NCI-TCGA novel	p.Val1257Ala	missense variant	-	NC_000014.9:g.95103626A>G	NCI-TCGA
RCV000467810	p.Met1258Thr	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103623A>G	ClinVar
rs144095207	p.Met1258Thr	missense variant	-	NC_000014.9:g.95103623A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1392589360	p.Met1258Ile	missense variant	-	NC_000014.9:g.95103622C>A	gnomAD
RCV000463245	p.Val1260Ile	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103618C>T	ClinVar
RCV000240892	p.Val1260Ter	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103620dup	ClinVar
RCV000240892	p.del1260del	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103620dup	ClinVar
rs763425076	p.Val1260Ile	missense variant	-	NC_000014.9:g.95103618C>T	ExAC,TOPMed,gnomAD
rs771990285	p.Gly1263Ala	missense variant	-	NC_000014.9:g.95103608C>G	ExAC,TOPMed,gnomAD
rs771990285	p.Gly1263Asp	missense variant	-	NC_000014.9:g.95103608C>T	ExAC,TOPMed,gnomAD
RCV000459272	p.Thr1264Met	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103605G>A	ClinVar
rs139346443	p.Thr1264Met	missense variant	-	NC_000014.9:g.95103605G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000569382	p.Thr1264Met	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103605G>A	ClinVar
RCV000459002	p.Asp1266His	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103600C>G	ClinVar
RCV000699111	p.Asp1266Glu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103598G>C	ClinVar
rs1183908844	p.Asp1266Glu	missense variant	-	NC_000014.9:g.95103598G>C	TOPMed,gnomAD
rs368610812	p.Asp1266Ala	missense variant	-	NC_000014.9:g.95103599T>G	ESP,ExAC,gnomAD
rs1060503654	p.Asp1266His	missense variant	-	NC_000014.9:g.95103600C>G	-
rs953855540	p.Thr1267Ala	missense variant	-	NC_000014.9:g.95103597T>C	TOPMed
rs1277796753	p.Gln1269Glu	missense variant	-	NC_000014.9:g.95103591G>C	TOPMed
RCV000700769	p.Val1270Met	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103588C>T	ClinVar
RCV000702550	p.Leu1271Phe	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103585G>A	ClinVar
rs1249975103	p.Leu1271Phe	missense variant	-	NC_000014.9:g.95103585G>A	TOPMed,gnomAD
rs1178292163	p.Leu1271Pro	missense variant	-	NC_000014.9:g.95103584A>G	gnomAD
RCV000695971	p.Lys1272Asn	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103580C>G	ClinVar
RCV000534087	p.Lys1272Arg	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103581T>C	ClinVar
rs151197809	p.Lys1272Arg	missense variant	-	NC_000014.9:g.95103581T>C	ESP,TOPMed,gnomAD
COSM959260	p.Arg1274Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95103575C>A	NCI-TCGA Cosmic
rs142193936	p.Arg1274Gly	missense variant	-	NC_000014.9:g.95103576T>C	ESP,ExAC,TOPMed,gnomAD
rs751764482	p.Met1275Val	missense variant	-	NC_000014.9:g.95103573T>C	ExAC,TOPMed,gnomAD
RCV000561792	p.Met1275Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103573T>C	ClinVar
RCV000225860	p.Met1275Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103573T>C	ClinVar
rs778033280	p.Met1275Ile	missense variant	-	NC_000014.9:g.95103571C>A	ExAC,gnomAD
rs758636143	p.Asp1276Gly	missense variant	-	NC_000014.9:g.95103569T>C	ExAC,gnomAD
RCV000472875	p.Asp1276Gly	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103569T>C	ClinVar
rs753013678	p.Asp1276Glu	missense variant	-	NC_000014.9:g.95103568A>T	ExAC,gnomAD
rs148696745	p.Ser1280Cys	missense variant	-	NC_000014.9:g.95103558T>A	ESP,ExAC,gnomAD
RCV000654464	p.Ser1280Cys	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103558T>A	ClinVar
rs148696745	p.Ser1280Gly	missense variant	-	NC_000014.9:g.95103558T>C	ESP,ExAC,gnomAD
RCV000549005	p.Pro1281Leu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103554G>A	ClinVar
rs1306948597	p.Pro1281Leu	missense variant	-	NC_000014.9:g.95103554G>A	gnomAD
RCV000527104	p.Ile1283Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103549T>C	ClinVar
RCV000576059	p.Ile1283Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103549T>C	ClinVar
rs754352488	p.Ile1283Thr	missense variant	-	NC_000014.9:g.95103548A>G	ExAC,TOPMed,gnomAD
rs548255758	p.Ile1283Val	missense variant	-	NC_000014.9:g.95103549T>C	ExAC,TOPMed,gnomAD
RCV000229624	p.Ile1283Thr	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103548A>G	ClinVar
RCV000571006	p.Gly1284Ala	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103545C>G	ClinVar
rs563395930	p.Gly1284Ala	missense variant	-	NC_000014.9:g.95103545C>G	1000Genomes,ExAC,gnomAD
rs111495226	p.Ser1286Ala	missense variant	-	NC_000014.9:g.95103540A>C	TOPMed
RCV000699923	p.Ser1286Phe	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103539G>A	ClinVar
rs373980178	p.Ser1287Ala	missense variant	-	NC_000014.9:g.95103537A>C	ESP,TOPMed
rs1263628434	p.Ser1287Leu	missense variant	-	NC_000014.9:g.95103536G>A	gnomAD
RCV000456821	p.Leu1290Phe	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103528G>A	ClinVar
rs1060503650	p.Leu1290Phe	missense variant	-	NC_000014.9:g.95103528G>A	-
RCV000240929	p.del1292del	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103518_95103521del	ClinVar
RCV000240929	p.Pro1292Ter	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103518_95103521del	ClinVar
rs1415495347	p.Pro1292Thr	missense variant	-	NC_000014.9:g.95103522G>T	TOPMed
RCV000575772	p.Asn1293Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103518T>C	ClinVar
rs772855134	p.Asn1293Thr	missense variant	-	NC_000014.9:g.95103518T>G	ExAC,TOPMed,gnomAD
RCV000537430	p.Asn1293Ser	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103518T>C	ClinVar
rs772855134	p.Asn1293Ser	missense variant	-	NC_000014.9:g.95103518T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly1295Val	missense variant	-	NC_000014.9:g.95103512C>A	NCI-TCGA
RCV000765194	p.Ile1297Thr	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103506A>G	ClinVar
rs761578934	p.Ile1297Asn	missense variant	-	NC_000014.9:g.95103506A>T	ExAC,gnomAD
RCV000654472	p.Ile1297Thr	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103506A>G	ClinVar
rs761578934	p.Ile1297Thr	missense variant	-	NC_000014.9:g.95103506A>G	ExAC,gnomAD
rs774248214	p.Ala1300Asp	missense variant	-	NC_000014.9:g.95103497G>T	ExAC,gnomAD
RCV000233539	p.Ala1300Thr	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103498C>T	ClinVar
rs878855260	p.Ala1300Thr	missense variant	-	NC_000014.9:g.95103498C>T	-
NCI-TCGA novel	p.Leu1301Met	missense variant	-	NC_000014.9:g.95103495A>T	NCI-TCGA
rs1363268262	p.Leu1301Ser	missense variant	-	NC_000014.9:g.95103494A>G	gnomAD
RCV000056332	p.Leu1303Ter	frameshift	Rhabdomyosarcoma, embryonal, 2 (RMSE2)	NC_000014.9:g.95103488_95103489AG[1]	ClinVar
NCI-TCGA novel	p.Arg1314Trp	missense variant	-	NC_000014.9:g.95103456G>A	NCI-TCGA
RCV000691665	p.Leu1315Phe	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103453G>A	ClinVar
rs779909779	p.Leu1315His	missense variant	-	NC_000014.9:g.95103452A>T	ExAC,gnomAD
rs779909779	p.Leu1315Pro	missense variant	-	NC_000014.9:g.95103452A>G	ExAC,gnomAD
rs771037069	p.Glu1316Ter	stop gained	-	NC_000014.9:g.95103450C>A	ExAC,gnomAD
RCV000542192	p.Leu1318Phe	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103444G>A	ClinVar
rs1555369315	p.Leu1318Phe	missense variant	-	NC_000014.9:g.95103444G>A	-
RCV000851463	p.Asp1320Ter	frameshift	-	NC_000014.9:g.95103439dup	ClinVar
NCI-TCGA novel	p.Asp1320Asn	missense variant	-	NC_000014.9:g.95103438C>T	NCI-TCGA
RCV000697367	p.Asp1320Ter	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103439dup	ClinVar
rs1273980412	p.Lys1324Ter	stop gained	-	NC_000014.9:g.95103426T>A	TOPMed
RCV000232820	p.Thr1329Arg	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103410G>C	ClinVar
rs878855261	p.Thr1329Arg	missense variant	-	NC_000014.9:g.95103410G>C	-
RCV000493021	p.Tyr1330Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103406_95103407AT[1]	ClinVar
NCI-TCGA novel	p.Tyr1330His	missense variant	-	NC_000014.9:g.95103408A>G	NCI-TCGA
RCV000526668	p.Thr1334Ile	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103395G>A	ClinVar
rs1555369296	p.Thr1334Ile	missense variant	-	NC_000014.9:g.95103395G>A	-
RCV000227857	p.Tyr1335Ter	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103392dup	ClinVar
rs878855262	p.Tyr1335Ter	stop gained	-	NC_000014.9:g.95103392dup	-
rs755357184	p.Tyr1335Ter	stop gained	-	NC_000014.9:g.95103391G>C	ExAC,gnomAD
RCV000556120	p.Ala1338Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103383G>A	ClinVar
rs766732310	p.Ala1338Val	missense variant	-	NC_000014.9:g.95103383G>A	ExAC,gnomAD
COSM3815606	p.Glu1340Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95103378C>G	NCI-TCGA Cosmic
RCV000477127	p.Arg1342Cys	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103372G>A	ClinVar
rs767166092	p.Arg1342His	missense variant	-	NC_000014.9:g.95103371C>T	ExAC,gnomAD
rs776854466	p.Arg1342Cys	missense variant	-	NC_000014.9:g.95103372G>A	TOPMed
RCV000707071	p.Ser1344Ter	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103365G>C	ClinVar
COSM959258	p.Ser1344Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95103365G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser1344Thr	missense variant	-	NC_000014.9:g.95103366A>T	NCI-TCGA
rs1323719137	p.Tyr1345Ter	stop gained	-	NC_000014.9:g.95103361A>T	gnomAD
RCV000691934	p.Met1346Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95103360T>C	ClinVar
rs1387749836	p.Met1346Ile	missense variant	-	NC_000014.9:g.95103358C>T	gnomAD
rs1455097358	p.Met1346Val	missense variant	-	NC_000014.9:g.95103360T>C	TOPMed
rs1398853735	p.Met1346Lys	missense variant	-	NC_000014.9:g.95103359A>T	gnomAD
rs1165606053	p.Arg1347Lys	missense variant	-	NC_000014.9:g.95103356C>T	gnomAD
RCV000494261	p.Ser1348Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103352del	ClinVar
rs1415791238	p.Ser1348Arg	missense variant	-	NC_000014.9:g.95103352G>T	gnomAD
rs1476191950	p.Ser1348Asn	missense variant	-	NC_000014.9:g.95103353C>T	gnomAD
RCV000569667	p.Lys1350Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95103347T>G	ClinVar
rs1555369270	p.Lys1350Thr	missense variant	-	NC_000014.9:g.95103347T>G	-
NCI-TCGA novel	p.Lys1350ArgPheSerTerUnkUnk	frameshift	-	NC_000014.9:g.95103347T>-	NCI-TCGA
RCV000530034	p.Cys1354Ser	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099926A>T	ClinVar
rs749559682	p.Cys1354Ser	missense variant	-	NC_000014.9:g.95099926A>T	ExAC,gnomAD
NCI-TCGA novel	p.Tyr1357Cys	missense variant	-	NC_000014.9:g.95099916T>C	NCI-TCGA
RCV000575051	p.Arg1358Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95099914G>A	ClinVar
RCV000493217	p.Arg1358Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95099915dup	ClinVar
RCV000469750	p.Arg1358His	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099913C>T	ClinVar
rs1185001854	p.Arg1358Cys	missense variant	-	NC_000014.9:g.95099914G>A	gnomAD
rs780488568	p.Arg1358His	missense variant	-	NC_000014.9:g.95099913C>T	ExAC,TOPMed,gnomAD
rs1555368619	p.Lys1361Arg	missense variant	-	NC_000014.9:g.95099904T>C	-
RCV000654429	p.Lys1361Arg	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099904T>C	ClinVar
RCV000493819	p.Lys1363Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95099906dup	ClinVar
RCV000569409	p.Gly1364Ala	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95099895C>G	ClinVar
RCV000542831	p.Gly1364Ala	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099895C>G	ClinVar
rs1467554488	p.Gly1364Ala	missense variant	-	NC_000014.9:g.95099895C>G	gnomAD
rs1196046363	p.Gly1364Arg	missense variant	-	NC_000014.9:g.95099896C>T	gnomAD
rs1250570322	p.Leu1365Ile	missense variant	-	NC_000014.9:g.95099893G>T	TOPMed,gnomAD
RCV000573313	p.Leu1365Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95099893G>T	ClinVar
RCV000557954	p.Leu1365Ile	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099893G>T	ClinVar
RCV000230621	p.Arg1368Cys	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099884G>A	ClinVar
RCV000574570	p.Arg1368Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95099884G>A	ClinVar
RCV000654419	p.Arg1368His	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099883C>T	ClinVar
rs752740048	p.Arg1368Cys	missense variant	-	NC_000014.9:g.95099884G>A	ExAC,TOPMed,gnomAD
rs767112987	p.Arg1368His	missense variant	-	NC_000014.9:g.95099883C>T	ExAC,TOPMed,gnomAD
rs767112987	p.Arg1368Leu	missense variant	-	NC_000014.9:g.95099883C>A	ExAC,TOPMed,gnomAD
rs1276560984	p.Val1371Met	missense variant	-	NC_000014.9:g.95099875C>T	TOPMed
NCI-TCGA novel	p.Ile1373ArgPheSerTerUnk	stop gained	-	NC_000014.9:g.95099868_95099869insATTTGTTTTATTAATTTTTTGTTTCATTTTC	NCI-TCGA
RCV000464109	p.Pro1377Ter	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099860del	ClinVar
COSM4677489	p.Pro1377LeuPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.95099856G>-	NCI-TCGA Cosmic
RCV000494426	p.Pro1377Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95099860del	ClinVar
rs888888762	p.Pro1377Ala	missense variant	-	NC_000014.9:g.95099857G>C	TOPMed
rs1555368579	p.Asn1379Tyr	missense variant	-	NC_000014.9:g.95099851T>A	-
RCV000654410	p.Asn1379Tyr	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099851T>A	ClinVar
RCV000851415	p.Trp1380Ter	nonsense	-	NC_000014.9:g.95099846C>T	ClinVar
rs1131691205	p.Trp1380Ter	stop gained	-	NC_000014.9:g.95099846C>T	-
RCV000701333	p.Pro1382Ser	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099842G>A	ClinVar
RCV000469100	p.Gly1384Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099835C>A	ClinVar
rs1060503664	p.Gly1384Val	missense variant	-	NC_000014.9:g.95099835C>A	gnomAD
rs1060503664	p.Gly1384Ala	missense variant	-	NC_000014.9:g.95099835C>G	gnomAD
rs1199615826	p.Val1386Ile	missense variant	-	NC_000014.9:g.95099830C>T	TOPMed
NCI-TCGA novel	p.Val1386Ala	missense variant	-	NC_000014.9:g.95099829A>G	NCI-TCGA
rs1555368569	p.Asn1388Asp	missense variant	-	NC_000014.9:g.95099824T>C	-
RCV000562141	p.Asn1388Asp	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95099824T>C	ClinVar
RCV000654461	p.Ser1392Asn	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099811C>T	ClinVar
rs1425420979	p.Ser1392Arg	missense variant	-	NC_000014.9:g.95099810G>C	TOPMed
rs751216539	p.Ser1392Asn	missense variant	-	NC_000014.9:g.95099811C>T	ExAC,gnomAD
rs751216539	p.Ser1392Thr	missense variant	-	NC_000014.9:g.95099811C>G	ExAC,gnomAD
rs763583825	p.Thr1394Ala	missense variant	-	NC_000014.9:g.95099806T>C	ExAC,TOPMed
RCV000486377	p.Trp1397Arg	missense variant	-	NC_000014.9:g.95099797A>G	ClinVar
RCV000575344	p.Trp1397Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95099797A>G	ClinVar
RCV000493645	p.Trp1397Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95099796C>T	ClinVar
RCV000240865	p.Trp1397Ter	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099796C>T	ClinVar
RCV000227035	p.Trp1397Arg	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099797A>G	ClinVar
rs762677393	p.Trp1397Arg	missense variant	-	NC_000014.9:g.95099797A>G	ExAC,TOPMed,gnomAD
rs886037711	p.Trp1397Ter	stop gained	-	NC_000014.9:g.95099796C>T	-
RCV000464861	p.Asp1400Gly	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099787T>C	ClinVar
RCV000654394	p.Asp1400Glu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099786A>T	ClinVar
rs941973586	p.Asp1400Glu	missense variant	-	NC_000014.9:g.95099786A>T	gnomAD
RCV000851469	p.Asp1400Gly	missense variant	-	NC_000014.9:g.95099787T>C	ClinVar
rs139536688	p.Asp1400Gly	missense variant	-	NC_000014.9:g.95099787T>C	ESP,ExAC,TOPMed,gnomAD
RCV000703015	p.Glu1401Lys	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099785C>T	ClinVar
RCV000539126	p.Met1402Ile	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95099780C>T	ClinVar
rs1356366359	p.Met1402Val	missense variant	-	NC_000014.9:g.95099782T>C	gnomAD
rs866519895	p.Met1402Ile	missense variant	-	NC_000014.9:g.95099780C>T	gnomAD
rs866519895	p.Met1402Ile	missense variant	-	NC_000014.9:g.95099780C>A	gnomAD
rs147391538	p.Thr1403Ser	missense variant	-	NC_000014.9:g.95096713T>A	ESP,ExAC,TOPMed
RCV000800950	p.Asp1405Glu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096705G>C	ClinVar
RCV000654428	p.Asp1405Ter	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096711del	ClinVar
rs1555367924	p.Asp1405Glu	missense variant	-	NC_000014.9:g.95096705G>C	-
RCV000574723	p.Asp1405Glu	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096705G>C	ClinVar
rs1295287147	p.Cys1406Phe	missense variant	-	NC_000014.9:g.95096703C>A	gnomAD
RCV000574324	p.Cys1406Phe	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096703C>A	ClinVar
rs1356179383	p.Cys1406Arg	missense variant	-	NC_000014.9:g.95096704A>G	gnomAD
RCV000541658	p.Met1407Arg	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096700A>C	ClinVar
RCV000561317	p.Met1407Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096700A>C	ClinVar
RCV000462665	p.Met1407Ile	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096699C>A	ClinVar
rs759394379	p.Met1407Leu	missense variant	-	NC_000014.9:g.95096701T>G	ExAC,gnomAD
rs759394379	p.Met1407Val	missense variant	-	NC_000014.9:g.95096701T>C	ExAC,gnomAD
rs1060503589	p.Met1407Ile	missense variant	-	NC_000014.9:g.95096699C>A	-
rs1555367920	p.Met1407Arg	missense variant	-	NC_000014.9:g.95096700A>C	-
rs1004274014	p.Ala1409Thr	missense variant	-	NC_000014.9:g.95096695C>T	TOPMed
rs776416084	p.Ala1409Glu	missense variant	-	NC_000014.9:g.95096694G>T	ExAC,TOPMed,gnomAD
rs776416084	p.Ala1409Val	missense variant	-	NC_000014.9:g.95096694G>A	ExAC,TOPMed,gnomAD
rs776416084	p.Ala1409Gly	missense variant	-	NC_000014.9:g.95096694G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly1411Asp	missense variant	-	NC_000014.9:g.95096688C>T	NCI-TCGA
rs1343899610	p.Glu1415Gly	missense variant	-	NC_000014.9:g.95096676T>C	gnomAD
rs768820364	p.Tyr1417Phe	missense variant	-	NC_000014.9:g.95096670T>A	ExAC,gnomAD
rs1421729263	p.Glu1418Lys	missense variant	-	NC_000014.9:g.95096668C>T	gnomAD
rs775839852	p.Glu1419Gln	missense variant	-	NC_000014.9:g.95096665C>G	ExAC,gnomAD
rs770273518	p.Glu1419Val	missense variant	-	NC_000014.9:g.95096664T>A	ExAC,gnomAD
rs1486741089	p.Glu1419Asp	missense variant	-	NC_000014.9:g.95096663C>A	TOPMed,gnomAD
RCV000567188	p.Asp1421Glu	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096657A>C	ClinVar
rs1219156713	p.Asp1421Glu	missense variant	-	NC_000014.9:g.95096657A>C	TOPMed
RCV000493195	p.Glu1422Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096656dup	ClinVar
rs746164022	p.Glu1422Asp	missense variant	-	NC_000014.9:g.95096654C>G	ExAC,gnomAD
RCV000555614	p.Glu1422Asp	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096654C>A	ClinVar
rs746164022	p.Glu1422Asp	missense variant	-	NC_000014.9:g.95096654C>A	ExAC,gnomAD
COSM959257	p.Glu1424Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95096649T>C	NCI-TCGA Cosmic
COSM3987847	p.Glu1425Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95096645C>A	NCI-TCGA Cosmic
RCV000462711	p.Ser1426Asn	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096643C>T	ClinVar
rs1060503648	p.Ser1426Asn	missense variant	-	NC_000014.9:g.95096643C>T	gnomAD
NCI-TCGA novel	p.Ser1426Cys	missense variant	-	NC_000014.9:g.95096644T>A	NCI-TCGA
RCV000562615	p.Met1428Lys	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096637A>T	ClinVar
RCV000459122	p.Met1428Lys	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096637A>T	ClinVar
rs996633792	p.Met1428Lys	missense variant	-	NC_000014.9:g.95096637A>T	TOPMed,gnomAD
RCV000492934	p.Trp1429Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096635del	ClinVar
RCV000545818	p.Arg1430Gly	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096632T>C	ClinVar
rs771513798	p.Arg1430Gly	missense variant	-	NC_000014.9:g.95096632T>C	ExAC,TOPMed,gnomAD
rs1256249012	p.Ala1431Pro	missense variant	-	NC_000014.9:g.95096629C>G	TOPMed
NCI-TCGA novel	p.Ala1431Ser	missense variant	-	NC_000014.9:g.95096629C>A	NCI-TCGA
RCV000566953	p.Pro1432Ala	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096626G>C	ClinVar
RCV000560637	p.Pro1432Leu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096625G>A	ClinVar
rs747593690	p.Pro1432Leu	missense variant	-	NC_000014.9:g.95096625G>A	ExAC,gnomAD
rs1555367862	p.Pro1432Ala	missense variant	-	NC_000014.9:g.95096626G>C	-
RCV000698151	p.Glu1435Asp	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096615C>A	ClinVar
RCV000563455	p.Ala1436Asp	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096613G>T	ClinVar
RCV000476530	p.Ala1436Asp	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096613G>T	ClinVar
rs1360320875	p.Ala1436Ser	missense variant	-	NC_000014.9:g.95096614C>A	gnomAD
rs777127946	p.Ala1436Asp	missense variant	-	NC_000014.9:g.95096613G>T	ExAC,gnomAD
RCV000851471	p.Asp1437Ter	frameshift	-	NC_000014.9:g.95096610_95096613del	ClinVar
RCV000493485	p.Asp1437Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096610_95096613del	ClinVar
RCV000240895	p.Asp1437Ter	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096610_95096613del	ClinVar
RCV000228106	p.Tyr1438Asn	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096608A>T	ClinVar
rs878855264	p.Tyr1438Asn	missense variant	-	NC_000014.9:g.95096608A>T	-
rs1202589148	p.Tyr1438Cys	missense variant	-	NC_000014.9:g.95096607T>C	TOPMed
rs1394532756	p.Glu1439Asp	missense variant	-	NC_000014.9:g.95096603T>G	gnomAD
rs752291344	p.Asp1441Tyr	missense variant	-	NC_000014.9:g.95096599C>A	ExAC,gnomAD
COSM959256	p.Phe1442Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95096594G>T	NCI-TCGA Cosmic
rs1455952908	p.Glu1444Lys	missense variant	-	NC_000014.9:g.95096590C>T	gnomAD
rs1367487931	p.Glu1444Asp	missense variant	-	NC_000014.9:g.95096588C>G	gnomAD
rs899635943	p.Asp1446Asn	missense variant	-	NC_000014.9:g.95096584C>T	TOPMed
rs1430019327	p.Ile1450Leu	missense variant	-	NC_000014.9:g.95096572T>G	gnomAD
NCI-TCGA novel	p.Phe1452LeuPheSerTerUnk	frameshift	-	NC_000014.9:g.95096564A>-	NCI-TCGA
rs1040361162	p.Ile1453Val	missense variant	-	NC_000014.9:g.95096563T>C	gnomAD
RCV000231875	p.Asn1455Thr	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096556T>G	ClinVar
RCV000687068	p.Asn1455Asp	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096557T>C	ClinVar
rs878855265	p.Asn1455Thr	missense variant	-	NC_000014.9:g.95096556T>G	-
rs1187851945	p.Met1456Ile	missense variant	-	NC_000014.9:g.95096552C>T	gnomAD
rs1488281692	p.Met1458Ile	missense variant	-	NC_000014.9:g.95096546C>A	TOPMed
RCV000654407	p.Gly1459Glu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096544C>T	ClinVar
rs1043584252	p.Gly1459Glu	missense variant	-	NC_000014.9:g.95096544C>T	TOPMed,gnomAD
RCV000654437	p.Ala1462Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096535G>A	ClinVar
rs1555367829	p.Ala1462Val	missense variant	-	NC_000014.9:g.95096535G>A	-
RCV000700566	p.Val1464Leu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096530C>A	ClinVar
rs1208091143	p.Val1464Ile	missense variant	-	NC_000014.9:g.95096530C>T	gnomAD
NCI-TCGA novel	p.Ile1467Met	missense variant	-	NC_000014.9:g.95096519G>C	NCI-TCGA
RCV000694811	p.Ser1468Cys	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096517G>C	ClinVar
RCV000561994	p.Ser1468Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096517G>C	ClinVar
rs753582860	p.Ser1468Phe	missense variant	-	NC_000014.9:g.95096517G>A	ExAC,gnomAD
rs753582860	p.Ser1468Cys	missense variant	-	NC_000014.9:g.95096517G>C	ExAC,gnomAD
RCV000544557	p.Leu1469Pro	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096514A>G	ClinVar
RCV000561747	p.Leu1469Pro	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096514A>G	ClinVar
RCV000654427	p.Leu1469Ter	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096515_95096516GA[2]	ClinVar
RCV000478954	p.Leu1469Ter	frameshift	-	NC_000014.9:g.95096515_95096516GA[2]	ClinVar
RCV000476492	p.Leu1469Ile	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096515G>T	ClinVar
rs200890670	p.Leu1469Pro	missense variant	-	NC_000014.9:g.95096514A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs766194200	p.Leu1469Ile	missense variant	-	NC_000014.9:g.95096515G>T	ExAC,TOPMed,gnomAD
RCV000240868	p.Ser1470Ter	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096513_95096516del	ClinVar
RCV000494649	p.Ser1470Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096513_95096516del	ClinVar
RCV000211112	p.Ser1470Ter	frameshift	Pineoblastoma	NC_000014.9:g.95096513_95096516del	ClinVar
RCV000468028	p.Pro1471Leu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096508G>A	ClinVar
RCV000561516	p.Pro1471Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096508G>A	ClinVar
RCV000654406	p.Pro1471Ser	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096509G>A	ClinVar
RCV000240930	p.del1471del	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096513_95096514del	ClinVar
RCV000240930	p.Pro1471Ter	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096513_95096514del	ClinVar
RCV000492956	p.Pro1471Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096513_95096514del	ClinVar
RCV000492956	p.del1471del	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096513_95096514del	ClinVar
rs1060503657	p.Pro1471Leu	missense variant	-	NC_000014.9:g.95096508G>A	-
rs764066711	p.Pro1471Ser	missense variant	-	NC_000014.9:g.95096509G>A	ExAC,gnomAD
rs763155602	p.Phe1472Val	missense variant	-	NC_000014.9:g.95096506A>C	ExAC,TOPMed,gnomAD
rs763155602	p.Phe1472Leu	missense variant	-	NC_000014.9:g.95096506A>G	ExAC,TOPMed,gnomAD
COSM1371849	p.Ser1473PhePheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.95096502_95096503insA	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser1473GlnPheSerTerUnkUnk	frameshift	-	NC_000014.9:g.95096503A>-	NCI-TCGA
rs150883389	p.Thr1475Ala	missense variant	-	NC_000014.9:g.95096497T>C	ESP,ExAC,TOPMed,gnomAD
RCV000538120	p.Thr1475Ala	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096497T>C	ClinVar
RCV000240907	p.Asp1476Ter	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096493_95096494insA	ClinVar
rs759857552	p.Asp1476Tyr	missense variant	-	NC_000014.9:g.95096494C>A	ExAC,TOPMed,gnomAD
rs1463264407	p.Ser1477Phe	missense variant	-	NC_000014.9:g.95096490G>A	TOPMed,gnomAD
RCV000548183	p.Ser1477Phe	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096490G>A	ClinVar
NCI-TCGA novel	p.Ser1477Cys	missense variant	-	NC_000014.9:g.95096490G>C	NCI-TCGA
rs771378631	p.Ala1478Val	missense variant	-	NC_000014.9:g.95096487G>A	ExAC
RCV000558444	p.Tyr1479Cys	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096484T>C	ClinVar
rs1218181729	p.Tyr1479Cys	missense variant	-	NC_000014.9:g.95096484T>C	TOPMed
rs778414751	p.Trp1481Arg	missense variant	-	NC_000014.9:g.95096479A>G	ExAC
COSM959255	p.Lys1482Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95096474T>G	NCI-TCGA Cosmic
RCV000699832	p.Met1483Ile	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096471C>T	ClinVar
RCV000765193	p.Met1483Ile	missense variant	Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors (MNG1)	NC_000014.9:g.95096471C>T	ClinVar
rs1454569806	p.Met1483Ile	missense variant	-	NC_000014.9:g.95096471C>T	gnomAD
rs1184743227	p.Pro1484Thr	missense variant	-	NC_000014.9:g.95096470G>T	gnomAD
rs772462662	p.Lys1485Gln	missense variant	-	NC_000014.9:g.95096467T>G	ExAC
COSM1371848	p.Lys1486AsnPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.95096462T>-	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys1486Gln	missense variant	-	NC_000014.9:g.95096464T>G	NCI-TCGA
RCV000493389	p.Ser1487Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096467dup	ClinVar
RCV000811512	p.Ser1487Ter	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096467dup	ClinVar
RCV000657269	p.Ser1487Ter	frameshift	-	NC_000014.9:g.95096467dup	ClinVar
NCI-TCGA novel	p.Ser1487IlePheSerTerUnk	frameshift	-	NC_000014.9:g.95096461_95096462insT	NCI-TCGA
RCV000229691	p.Ser1491Ile	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096448C>A	ClinVar
rs878855267	p.Ser1491Ile	missense variant	-	NC_000014.9:g.95096448C>A	-
RCV000765192	p.Met1492Thr	missense variant	Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors (MNG1)	NC_000014.9:g.95096445A>G	ClinVar
RCV000561694	p.Met1492Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096445A>G	ClinVar
RCV000654444	p.Met1492Thr	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096445A>G	ClinVar
rs756830706	p.Met1492Val	missense variant	-	NC_000014.9:g.95096446T>C	TOPMed,gnomAD
rs1186397655	p.Met1492Ile	missense variant	-	NC_000014.9:g.95096444C>T	gnomAD
RCV000562003	p.Met1492Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096446T>C	ClinVar
RCV000536096	p.Met1492Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096446T>C	ClinVar
rs370947079	p.Met1492Thr	missense variant	-	NC_000014.9:g.95096445A>G	ESP,ExAC,TOPMed,gnomAD
rs753527258	p.Ser1495Leu	missense variant	-	NC_000014.9:g.95096436G>A	ExAC,TOPMed,gnomAD
RCV000550982	p.Ser1495Leu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096436G>A	ClinVar
rs767679076	p.Ser1495Pro	missense variant	-	NC_000014.9:g.95096437A>G	ExAC,gnomAD
RCV000566167	p.Asp1497Asn	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096431C>T	ClinVar
RCV000232473	p.Asp1497Asn	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096431C>T	ClinVar
rs878855268	p.Asp1497Asn	missense variant	-	NC_000014.9:g.95096431C>T	TOPMed,gnomAD
rs779801642	p.Phe1498Leu	missense variant	-	NC_000014.9:g.95096426A>C	ExAC,gnomAD
rs1350503269	p.Glu1499Gln	missense variant	-	NC_000014.9:g.95096425C>G	gnomAD
RCV000808428	p.Asp1502Asn	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096416C>T	ClinVar
rs1273522896	p.Asp1502Asn	missense variant	-	NC_000014.9:g.95096416C>T	TOPMed,gnomAD
RCV000570957	p.Asp1502Asn	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096416C>T	ClinVar
RCV000240947	p.del1504del	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096409del	ClinVar
RCV000240947	p.Ser1504Ter	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096409del	ClinVar
COSM959254	p.Ser1504Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95096409C>T	NCI-TCGA Cosmic
COSM1300936	p.Ser1505Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95096406G>C	NCI-TCGA Cosmic
COSM6141743	p.Ser1505Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95096406G>A	NCI-TCGA Cosmic
rs1329994791	p.Ser1505Pro	missense variant	-	NC_000014.9:g.95096407A>G	gnomAD
RCV000240870	p.Trp1506Ter	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096403C>T	ClinVar
RCV000493299	p.Trp1506Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096403C>T	ClinVar
rs886037716	p.Trp1506Ter	stop gained	-	NC_000014.9:g.95096403C>T	TOPMed
NCI-TCGA novel	p.Trp1506Ter	stop gained	-	NC_000014.9:g.95096402C>T	NCI-TCGA
COSM1477876	p.Cys1510Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95096391C>T	NCI-TCGA Cosmic
RCV000494424	p.Tyr1511Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096387A>T	ClinVar
rs1131691206	p.Tyr1511Ter	stop gained	-	NC_000014.9:g.95096387A>T	gnomAD
rs1316786303	p.Asp1513Tyr	missense variant	-	NC_000014.9:g.95096383C>A	gnomAD
rs761666375	p.Ser1515Asn	missense variant	-	NC_000014.9:g.95096376C>T	ExAC,gnomAD
COSM699752	p.Lys1516Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95096372T>A	NCI-TCGA Cosmic
RCV000493125	p.Glu1519Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096365del	ClinVar
RCV000457105	p.Glu1519Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096364T>A	ClinVar
rs1060503622	p.Glu1519Val	missense variant	-	NC_000014.9:g.95096364T>A	-
rs1170730150	p.Glu1520Gln	missense variant	-	NC_000014.9:g.95096362C>G	gnomAD
rs1434924094	p.Asp1521Gly	missense variant	-	NC_000014.9:g.95096358T>C	TOPMed
NCI-TCGA novel	p.Asp1521Tyr	missense variant	-	NC_000014.9:g.95096359C>A	NCI-TCGA
rs1364431792	p.Asp1522Glu	missense variant	-	NC_000014.9:g.95096354G>C	gnomAD
NCI-TCGA novel	p.Glu1532Gly	missense variant	-	NC_000014.9:g.95096325T>C	NCI-TCGA
rs777054659	p.Glu1533Asp	missense variant	-	NC_000014.9:g.95096321T>G	ExAC,gnomAD
RCV000851419	p.Cys1535Ter	frameshift	-	NC_000014.9:g.95096314_95096315CA[1]	ClinVar
RCV000851419	p.del1535del	frameshift	-	NC_000014.9:g.95096314_95096315CA[1]	ClinVar
RCV000494288	p.del1535del	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096314_95096315CA[1]	ClinVar
RCV000494288	p.Cys1535Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096314_95096315CA[1]	ClinVar
RCV000240909	p.del1535del	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096314_95096315CA[1]	ClinVar
RCV000240909	p.Cys1535Ter	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096314_95096315CA[1]	ClinVar
rs1211879881	p.Cys1535Tyr	missense variant	-	NC_000014.9:g.95096316C>T	gnomAD
rs1486849070	p.Gly1536Asp	missense variant	-	NC_000014.9:g.95096313C>T	gnomAD
rs766652674	p.Val1537Ile	missense variant	-	NC_000014.9:g.95096311C>T	ExAC,gnomAD
rs761038319	p.Asp1538Glu	missense variant	-	NC_000014.9:g.95096306G>C	ExAC,gnomAD
RCV000471006	p.Thr1539Lys	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096304G>T	ClinVar
RCV000232937	p.Thr1539Met	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096304G>A	ClinVar
RCV000494503	p.Thr1539Met	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096304G>A	ClinVar
rs747901058	p.Thr1539Met	missense variant	-	NC_000014.9:g.95096304G>A	ExAC,TOPMed,gnomAD
rs747901058	p.Thr1539Lys	missense variant	-	NC_000014.9:g.95096304G>T	ExAC,TOPMed,gnomAD
RCV000493604	p.Lys1541Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096299T>A	ClinVar
RCV000493604	p.del1541del	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096299T>A	ClinVar
RCV000240950	p.Lys1541Ter	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096299T>A	ClinVar
RCV000240950	p.del1541del	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096299T>A	ClinVar
rs886037718	p.Lys1541Ter	stop gained	-	NC_000014.9:g.95096299T>A	-
RCV000240874	p.Gln1542Ter	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096294del	ClinVar
rs1555367720	p.Ile1544Val	missense variant	-	NC_000014.9:g.95096290T>C	-
rs541733582	p.Ile1544Asn	missense variant	-	NC_000014.9:g.95096289A>T	1000Genomes,ExAC,gnomAD
RCV000823820	p.Ile1544Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096290T>C	ClinVar
RCV000569957	p.Ile1544Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096290T>C	ClinVar
RCV000851420	p.Ser1545Ter	frameshift	-	NC_000014.9:g.95096289dup	ClinVar
RCV000211108	p.Ser1545Ter	frameshift	Pineoblastoma	NC_000014.9:g.95096289dup	ClinVar
RCV000539434	p.Tyr1546Ter	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096282G>T	ClinVar
RCV000494101	p.Tyr1546Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096283dup	ClinVar
rs1131691221	p.Tyr1546Ter	stop gained	-	NC_000014.9:g.95096283dup	-
rs773822569	p.Tyr1546Ter	stop gained	-	NC_000014.9:g.95096282G>T	ExAC,TOPMed,gnomAD
RCV000476197	p.Leu1548Phe	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096276C>G	ClinVar
rs1060503619	p.Leu1548Phe	missense variant	-	NC_000014.9:g.95096276C>G	-
COSM3499483	p.Thr1550Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95096271G>A	NCI-TCGA Cosmic
rs1435663556	p.Thr1550Ser	missense variant	-	NC_000014.9:g.95096271G>C	TOPMed
RCV000851421	p.Gln1552Ter	nonsense	-	NC_000014.9:g.95096266G>A	ClinVar
rs1131691208	p.Gln1552Ter	stop gained	-	NC_000014.9:g.95096266G>A	-
RCV000494085	p.Cys1553Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096263dup	ClinVar
COSM6141744	p.Lys1557Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95096251T>C	NCI-TCGA Cosmic
rs779823153	p.Ser1558Thr	missense variant	-	NC_000014.9:g.95096247C>G	ExAC,gnomAD
rs377409989	p.Ile1559Val	missense variant	-	NC_000014.9:g.95096245T>C	ESP,TOPMed
rs1555367694	p.Ile1559Arg	missense variant	-	NC_000014.9:g.95096244A>C	-
rs755726950	p.Ile1559Met	missense variant	-	NC_000014.9:g.95096243T>C	ExAC,gnomAD
RCV000570672	p.Ile1559Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096244A>C	ClinVar
COSM3690264	p.Ala1560Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95096241G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala1560Thr	missense variant	-	NC_000014.9:g.95096242C>T	NCI-TCGA
rs765396989	p.Tyr1570Cys	missense variant	-	NC_000014.9:g.95096211T>C	ExAC,gnomAD
rs765396989	p.Tyr1570Phe	missense variant	-	NC_000014.9:g.95096211T>A	ExAC,gnomAD
RCV000233254	p.Tyr1570Cys	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096211T>C	ClinVar
NCI-TCGA novel	p.Tyr1570Ter	stop gained	-	NC_000014.9:g.95096210A>T	NCI-TCGA
RCV000553405	p.Ser1573Thr	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096202C>G	ClinVar
rs1555367674	p.Ser1573Thr	missense variant	-	NC_000014.9:g.95096202C>G	-
rs1236067722	p.Cys1574Ser	missense variant	-	NC_000014.9:g.95096199C>G	TOPMed,gnomAD
RCV000461106	p.Gly1575Arg	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096197C>G	ClinVar
rs1060503609	p.Gly1575Arg	missense variant	-	NC_000014.9:g.95096197C>G	-
rs753976236	p.Glu1576Asp	missense variant	-	NC_000014.9:g.95096192C>A	ExAC,TOPMed,gnomAD
rs1447972626	p.Arg1577Lys	missense variant	-	NC_000014.9:g.95096190C>T	gnomAD
rs760830088	p.Ala1578Thr	missense variant	-	NC_000014.9:g.95096188C>T	ExAC,gnomAD
rs1466171960	p.Ala1579Val	missense variant	-	NC_000014.9:g.95096184G>A	gnomAD
RCV000574285	p.Gln1580His	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096180C>A	ClinVar
RCV000468344	p.Gln1580His	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096180C>A	ClinVar
rs369465519	p.Gln1580His	missense variant	-	NC_000014.9:g.95096180C>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln1580Lys	missense variant	-	NC_000014.9:g.95096182G>T	NCI-TCGA
RCV000004725	p.Leu1583Arg	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95096172A>C	ClinVar
RCV000240912	p.Leu1583Arg	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096172A>C	ClinVar
rs137852976	p.Leu1583Arg	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95096172A>C	UniProt,dbSNP
VAR_063150	p.Leu1583Arg	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95096172A>C	UniProt
rs137852976	p.Leu1583Arg	missense variant	Pleuropulmonary blastoma (ppb)	NC_000014.9:g.95096172A>C	-
RCV000240939	p.Ser1585Ter	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096166G>C	ClinVar
RCV000211120	p.Ser1585Ter	nonsense	Pineoblastoma	NC_000014.9:g.95096166G>C	ClinVar
rs875989779	p.Ser1585Ter	stop gained	-	NC_000014.9:g.95096166G>C	-
RCV000691984	p.Gly1587Ter	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096158del	ClinVar
rs1237854658	p.Gly1587Val	missense variant	-	NC_000014.9:g.95096160C>A	TOPMed
rs1237854658	p.Gly1587Glu	missense variant	-	NC_000014.9:g.95096160C>T	TOPMed
rs768146959	p.Lys1589Met	missense variant	-	NC_000014.9:g.95096154T>A	ExAC,gnomAD
rs1446931608	p.Leu1591Phe	missense variant	-	NC_000014.9:g.95096149G>A	gnomAD
COSM1371847	p.Pro1592Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95096145G>A	NCI-TCGA Cosmic
RCV000472687	p.Val1593Leu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096143C>G	ClinVar
rs1060503644	p.Val1593Leu	missense variant	-	NC_000014.9:g.95096143C>G	gnomAD
rs1387955483	p.Thr1597Asn	missense variant	-	NC_000014.9:g.95096130G>T	gnomAD
rs757177980	p.Asp1598Asn	missense variant	-	NC_000014.9:g.95096128C>T	ExAC,gnomAD
RCV000532384	p.Arg1599Gly	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096125G>C	ClinVar
RCV000809626	p.Arg1599Trp	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096125G>A	ClinVar
RCV000562129	p.Arg1599Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096125G>C	ClinVar
RCV000457830	p.Arg1599Gln	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096124C>T	ClinVar
rs569615549	p.Arg1599Gln	missense variant	-	NC_000014.9:g.95096124C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000547257	p.Arg1599Leu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096124C>A	ClinVar
rs569615549	p.Arg1599Leu	missense variant	-	NC_000014.9:g.95096124C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs587778230	p.Arg1599Trp	missense variant	-	NC_000014.9:g.95096125G>A	ExAC,TOPMed,gnomAD
rs587778230	p.Arg1599Gly	missense variant	-	NC_000014.9:g.95096125G>C	ExAC,TOPMed,gnomAD
rs181018393	p.Lys1601Met	missense variant	-	NC_000014.9:g.95096118T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys1601Asn	missense variant	-	NC_000014.9:g.95096117C>G	NCI-TCGA
RCV000401929	p.Lys1601Met	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95096118T>A	ClinVar
RCV000569711	p.Ala1602Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096115G>C	ClinVar
rs145669719	p.Ala1602Thr	missense variant	-	NC_000014.9:g.95096116C>T	ESP,ExAC,TOPMed,gnomAD
RCV000654386	p.Ala1602Gly	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096115G>C	ClinVar
RCV000561152	p.Ala1602Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096116C>T	ClinVar
RCV000457948	p.Ala1602Thr	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096116C>T	ClinVar
rs148955573	p.Ala1602Gly	missense variant	-	NC_000014.9:g.95096115G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu1603Met	missense variant	-	NC_000014.9:g.95096113G>T	NCI-TCGA
rs1464874776	p.Leu1603Pro	missense variant	-	NC_000014.9:g.95096112A>G	gnomAD
RCV000492888	p.Cys1604Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096108G>T	ClinVar
rs1131691201	p.Cys1604Ter	stop gained	-	NC_000014.9:g.95096108G>T	-
rs1254200271	p.Cys1604Phe	missense variant	-	NC_000014.9:g.95096109C>A	gnomAD
rs939314926	p.Pro1605Arg	missense variant	-	NC_000014.9:g.95096106G>C	TOPMed
rs767907056	p.Thr1606Ala	missense variant	-	NC_000014.9:g.95096104T>C	ExAC,gnomAD
RCV000465086	p.Arg1607Gln	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096100C>T	ClinVar
RCV000570497	p.Arg1607Gln	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096100C>T	ClinVar
RCV000335071	p.Arg1607Trp	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95096101G>A	ClinVar
rs368963384	p.Arg1607Gln	missense variant	-	NC_000014.9:g.95096100C>T	ESP,ExAC,TOPMed,gnomAD
rs189119295	p.Arg1607Trp	missense variant	-	NC_000014.9:g.95096101G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM5477045	p.Glu1608Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95096096C>A	NCI-TCGA Cosmic
RCV000552752	p.Asn1609Ser	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096094T>C	ClinVar
rs1228069910	p.Asn1609Ser	missense variant	-	NC_000014.9:g.95096094T>C	TOPMed
rs1314094025	p.Phe1610Leu	missense variant	-	NC_000014.9:g.95096090G>C	TOPMed
rs763472931	p.Asn1611Thr	missense variant	-	NC_000014.9:g.95096088T>G	ExAC,TOPMed,gnomAD
rs763472931	p.Asn1611Ser	missense variant	-	NC_000014.9:g.95096088T>C	ExAC,TOPMed,gnomAD
rs775024028	p.Gln1613Leu	missense variant	-	NC_000014.9:g.95096082T>A	ExAC,gnomAD
RCV000575624	p.Gln1613Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096082T>A	ClinVar
rs775024028	p.Gln1613Arg	missense variant	-	NC_000014.9:g.95096082T>C	ExAC,gnomAD
RCV000531188	p.Gln1614Arg	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096079T>C	ClinVar
rs769225805	p.Gln1614Leu	missense variant	-	NC_000014.9:g.95096079T>A	ExAC,gnomAD
rs769225805	p.Gln1614Arg	missense variant	-	NC_000014.9:g.95096079T>C	ExAC,gnomAD
NCI-TCGA novel	p.Lys1615Asn	missense variant	-	NC_000014.9:g.95096075C>A	NCI-TCGA
RCV000545218	p.Asn1616Ser	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096073T>C	ClinVar
rs1257498722	p.Asn1616Ser	missense variant	-	NC_000014.9:g.95096073T>C	TOPMed
RCV000560028	p.Leu1617Pro	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096070A>G	ClinVar
COSM1371846	p.Leu1617Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95096071G>T	NCI-TCGA Cosmic
rs1555367614	p.Leu1617Pro	missense variant	-	NC_000014.9:g.95096070A>G	-
NCI-TCGA novel	p.Leu1617His	missense variant	-	NC_000014.9:g.95096070A>T	NCI-TCGA
RCV000494069	p.Ser1618Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096067G>T	ClinVar
RCV000230338	p.Ser1618Leu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096067G>A	ClinVar
rs377205344	p.Ser1618Ter	stop gained	-	NC_000014.9:g.95096067G>T	ESP,ExAC,TOPMed,gnomAD
rs377205344	p.Ser1618Leu	missense variant	-	NC_000014.9:g.95096067G>A	ESP,ExAC,TOPMed,gnomAD
rs1438625170	p.Val1619Met	missense variant	-	NC_000014.9:g.95096065C>T	gnomAD
RCV000533667	p.Ser1620Asn	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096061C>T	ClinVar
rs1555367601	p.Ser1620Asn	missense variant	-	NC_000014.9:g.95096061C>T	-
NCI-TCGA novel	p.Ala1622Asp	missense variant	-	NC_000014.9:g.95096055G>T	NCI-TCGA
rs372967646	p.Ala1624Pro	missense variant	-	NC_000014.9:g.95096050C>G	ESP,ExAC,TOPMed,gnomAD
RCV000696826	p.Ala1624Pro	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096050C>G	ClinVar
RCV000566395	p.Ala1624Pro	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096050C>G	ClinVar
RCV000563354	p.Ala1624Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096049G>A	ClinVar
RCV000761082	p.Ala1624Pro	missense variant	-	NC_000014.9:g.95096050C>G	ClinVar
rs1555367596	p.Ala1624Val	missense variant	-	NC_000014.9:g.95096049G>A	-
RCV000811928	p.Ala1624Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096049G>A	ClinVar
RCV000543986	p.Ser1625Phe	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096046G>A	ClinVar
RCV000229012	p.Ser1625Cys	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096046G>C	ClinVar
RCV000471778	p.Ser1625Pro	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096047A>G	ClinVar
RCV000205591	p.Ser1625Tyr	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096046G>T	ClinVar
RCV000565933	p.Ser1625Tyr	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096046G>T	ClinVar
rs864622653	p.Ser1625Cys	missense variant	-	NC_000014.9:g.95096046G>C	gnomAD
rs864622653	p.Ser1625Tyr	missense variant	-	NC_000014.9:g.95096046G>T	gnomAD
rs864622653	p.Ser1625Phe	missense variant	-	NC_000014.9:g.95096046G>A	gnomAD
rs529131866	p.Ser1625Pro	missense variant	-	NC_000014.9:g.95096047A>G	1000Genomes,ExAC,TOPMed
RCV000562463	p.Val1626Met	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096044C>T	ClinVar
rs777737447	p.Val1626Gly	missense variant	-	NC_000014.9:g.95096043A>C	ExAC,gnomAD
rs1555367589	p.Val1626Met	missense variant	-	NC_000014.9:g.95096044C>T	-
rs777737447	p.Val1626Ala	missense variant	-	NC_000014.9:g.95096043A>G	ExAC,gnomAD
COSM4053283	p.Ala1627Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95096041C>T	NCI-TCGA Cosmic
rs748079162	p.Ser1628Gly	missense variant	-	NC_000014.9:g.95096038T>C	ExAC
rs1392384194	p.Ser1628Ile	missense variant	-	NC_000014.9:g.95096037C>A	gnomAD
rs1167159136	p.Ser1629Leu	missense variant	-	NC_000014.9:g.95096034G>A	gnomAD
RCV000565748	p.Arg1630His	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096031C>T	ClinVar
RCV000559079	p.Arg1630His	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096031C>T	ClinVar
RCV000571126	p.Arg1630Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096032G>A	ClinVar
RCV000467108	p.Arg1630Cys	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096032G>A	ClinVar
rs549532374	p.Arg1630Cys	missense variant	-	NC_000014.9:g.95096032G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs368343829	p.Arg1630His	missense variant	-	NC_000014.9:g.95096031C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs368343829	p.Arg1630Leu	missense variant	-	NC_000014.9:g.95096031C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000301109	p.Ser1631Ala	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95096029A>C	ClinVar
RCV000611518	p.Ser1631Ala	missense variant	-	NC_000014.9:g.95096029A>C	ClinVar
RCV000205231	p.Ser1631Ala	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096029A>C	ClinVar
rs145551486	p.Ser1631Ala	missense variant	-	NC_000014.9:g.95096029A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000567615	p.Ser1631Ala	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096029A>C	ClinVar
RCV000476667	p.Ser1632Pro	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096026A>G	ClinVar
RCV000568973	p.Ser1632Pro	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096026A>G	ClinVar
rs545392797	p.Ser1632Pro	missense variant	-	NC_000014.9:g.95096026A>G	1000Genomes,ExAC,gnomAD
RCV000466854	p.Val1633Ile	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096023C>T	ClinVar
rs1060503643	p.Val1633Ile	missense variant	-	NC_000014.9:g.95096023C>T	-
rs149723645	p.Leu1634Ser	missense variant	-	NC_000014.9:g.95096019A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000234713	p.Leu1634Ser	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096019A>G	ClinVar
RCV000706254	p.Lys1635Asn	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096015T>G	ClinVar
RCV000493303	p.Ser1637Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95096010G>A	ClinVar
RCV000228543	p.Ser1637Leu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95096010G>A	ClinVar
rs140875148	p.Ser1637Trp	missense variant	-	NC_000014.9:g.95096010G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs140875148	p.Ser1637Leu	missense variant	-	NC_000014.9:g.95096010G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000391880	p.Ser1637Leu	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95096010G>A	ClinVar
rs1350329738	p.Tyr1639Cys	missense variant	-	NC_000014.9:g.95096004T>C	gnomAD
RCV000494196	p.Gly1640Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95095997_95096000del	ClinVar
rs753190767	p.Gly1640Ser	missense variant	-	NC_000014.9:g.95096002C>T	ExAC,gnomAD
RCV000120642	p.Cys1641Trp	missense variant	-	NC_000014.9:g.95095997A>C	ClinVar
RCV000693614	p.Cys1641Gly	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095999A>C	ClinVar
rs587778231	p.Cys1641Trp	missense variant	-	NC_000014.9:g.95095997A>C	ExAC,TOPMed,gnomAD
rs146715213	p.Met1649Val	missense variant	-	NC_000014.9:g.95095975T>C	1000Genomes,ExAC,gnomAD
RCV000537552	p.Met1649Ile	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095973C>T	ClinVar
RCV000465635	p.Met1649Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095975T>C	ClinVar
rs1274381410	p.Met1649Ile	missense variant	-	NC_000014.9:g.95095973C>T	TOPMed,gnomAD
RCV000575142	p.Phe1650Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95095971A>C	ClinVar
rs760439905	p.Phe1650Cys	missense variant	-	NC_000014.9:g.95095971A>C	ExAC,TOPMed,gnomAD
RCV000547598	p.Phe1650Cys	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095971A>C	ClinVar
rs1372597986	p.His1652Tyr	missense variant	-	NC_000014.9:g.95095966G>A	gnomAD
RCV000526051	p.His1652Tyr	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095966G>A	ClinVar
rs773113605	p.Pro1653Gln	missense variant	-	NC_000014.9:g.95095962G>T	ExAC,gnomAD
RCV000493443	p.Asp1654Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95095960_95095961dup	ClinVar
RCV000240875	p.Asp1654Ter	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095960_95095961dup	ClinVar
NCI-TCGA novel	p.Asp1654Tyr	missense variant	-	NC_000014.9:g.95095960C>A	NCI-TCGA
rs1431986661	p.Asp1656Gly	missense variant	-	NC_000014.9:g.95095953T>C	gnomAD
NCI-TCGA novel	p.Asp1656TrpPheSerTerUnk	frameshift	-	NC_000014.9:g.95095954_95095955insCA	NCI-TCGA
rs748106400	p.Asp1656Asn	missense variant	-	NC_000014.9:g.95095954C>T	ExAC,gnomAD
RCV000570749	p.Lys1657Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95095950T>G	ClinVar
RCV000706444	p.Lys1657Thr	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095950T>G	ClinVar
rs778780063	p.Lys1657Thr	missense variant	-	NC_000014.9:g.95095950T>G	ExAC,TOPMed,gnomAD
rs778780063	p.Lys1657Ile	missense variant	-	NC_000014.9:g.95095950T>A	ExAC,TOPMed,gnomAD
rs768640549	p.Thr1658Ala	missense variant	-	NC_000014.9:g.95095948T>C	ExAC,gnomAD
NCI-TCGA novel	p.His1661Tyr	missense variant	-	NC_000014.9:g.95095939G>A	NCI-TCGA
RCV000493436	p.Ile1663Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95095937del	ClinVar
rs1555367530	p.Ile1663Val	missense variant	-	NC_000014.9:g.95095933T>C	-
rs1253443798	p.Ile1663Met	missense variant	-	NC_000014.9:g.95095931T>C	gnomAD
RCV000548128	p.Ile1663Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095933T>C	ClinVar
RCV000466310	p.Ser1664Leu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095929G>A	ClinVar
RCV000563940	p.Ser1664Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95095929G>A	ClinVar
rs988095775	p.Ser1664Leu	missense variant	-	NC_000014.9:g.95095929G>A	TOPMed,gnomAD
RCV000654387	p.Gly1665Arg	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095927C>T	ClinVar
rs1256442548	p.Gly1665Ala	missense variant	-	NC_000014.9:g.95095926C>G	gnomAD
rs1555367528	p.Gly1665Arg	missense variant	-	NC_000014.9:g.95095927C>T	-
RCV000654412	p.Glu1667Ter	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095921C>A	ClinVar
COSM1371845	p.Glu1667Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95095919T>G	NCI-TCGA Cosmic
rs1555367522	p.Glu1667Ter	stop gained	-	NC_000014.9:g.95095921C>A	-
rs1210643393	p.Phe1669Leu	missense variant	-	NC_000014.9:g.95095913A>C	TOPMed
RCV000654446	p.Lys1671Asn	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095907C>G	ClinVar
rs751819396	p.Lys1671Asn	missense variant	-	NC_000014.9:g.95095907C>A	ExAC,TOPMed,gnomAD
rs751819396	p.Lys1671Asn	missense variant	-	NC_000014.9:g.95095907C>G	ExAC,TOPMed,gnomAD
rs1484737767	p.Lys1671Glu	missense variant	-	NC_000014.9:g.95095909T>C	TOPMed
rs1438773814	p.Lys1672Asn	missense variant	-	NC_000014.9:g.95095904T>A	gnomAD
RCV000526250	p.Lys1672Asn	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095904T>A	ClinVar
RCV000693348	p.Asn1674Thr	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095899T>G	ClinVar
RCV000541146	p.Asn1674Asp	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095900T>C	ClinVar
rs1424203615	p.Asn1674Thr	missense variant	-	NC_000014.9:g.95095899T>G	TOPMed
rs1555367519	p.Asn1674Asp	missense variant	-	NC_000014.9:g.95095900T>C	-
RCV000556278	p.Tyr1675His	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095897A>G	ClinVar
rs1555367518	p.Tyr1675His	missense variant	-	NC_000014.9:g.95095897A>G	-
NCI-TCGA novel	p.Tyr1675Phe	missense variant	-	NC_000014.9:g.95095896T>A	NCI-TCGA
RCV000571843	p.Arg1676Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95095893C>G	ClinVar
RCV000687753	p.Arg1676Thr	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095893C>G	ClinVar
RCV000540216	p.Arg1676Ser	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095892T>A	ClinVar
rs375465466	p.Arg1676Thr	missense variant	-	NC_000014.9:g.95095893C>G	ESP,ExAC,TOPMed,gnomAD
rs375465466	p.Arg1676Lys	missense variant	-	NC_000014.9:g.95095893C>T	ESP,ExAC,TOPMed,gnomAD
rs1555367513	p.Arg1676Ser	missense variant	-	NC_000014.9:g.95095892T>A	-
rs753111453	p.Lys1678Asn	missense variant	-	NC_000014.9:g.95095886C>G	ExAC,gnomAD
rs758758363	p.Lys1678Glu	missense variant	-	NC_000014.9:g.95095888T>C	ExAC,gnomAD
rs1424077753	p.Asn1679Ser	missense variant	-	NC_000014.9:g.95095884T>C	TOPMed
RCV000476765	p.Lys1680Glu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095882T>C	ClinVar
RCV000566917	p.Lys1680Glu	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95095882T>C	ClinVar
rs1060503639	p.Lys1680Glu	missense variant	-	NC_000014.9:g.95095882T>C	gnomAD
rs1060503639	p.Lys1680Gln	missense variant	-	NC_000014.9:g.95095882T>G	gnomAD
RCV000570010	p.Ala1681Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95095879C>A	ClinVar
rs1555367505	p.Ala1681Ser	missense variant	-	NC_000014.9:g.95095879C>A	-
RCV000240917	p.Gln1685Ter	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095867G>A	ClinVar
rs886037721	p.Gln1685Ter	stop gained	-	NC_000014.9:g.95095867G>A	-
RCV000555084	p.Ala1686Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095863G>A	ClinVar
rs1555367498	p.Ala1686Val	missense variant	-	NC_000014.9:g.95095863G>A	-
RCV000532685	p.Thr1688Lys	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095857G>T	ClinVar
rs1555367495	p.Thr1688Lys	missense variant	-	NC_000014.9:g.95095857G>T	-
RCV000570079	p.His1693Asn	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95095843G>T	ClinVar
rs1359055040	p.His1693Arg	missense variant	-	NC_000014.9:g.95095842T>C	gnomAD
rs1555367487	p.His1693Asn	missense variant	-	NC_000014.9:g.95095843G>T	-
NCI-TCGA novel	p.Tyr1694Cys	missense variant	-	NC_000014.9:g.95095839T>C	NCI-TCGA
rs1160478379	p.Thr1696Ser	missense variant	-	NC_000014.9:g.95095833G>C	gnomAD
RCV000553062	p.Ile1697Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95095831T>C	ClinVar
rs753251774	p.Ile1697Met	missense variant	-	NC_000014.9:g.95095829G>C	ExAC,gnomAD
rs1457257809	p.Ile1697Val	missense variant	-	NC_000014.9:g.95095831T>C	gnomAD
NCI-TCGA novel	p.Asp1699Asn	missense variant	-	NC_000014.9:g.95095825C>T	NCI-TCGA
RCV000851423	p.Tyr1701Ter	nonsense	-	NC_000014.9:g.95094149G>T	ClinVar
RCV000654463	p.Tyr1701Ter	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094149G>C	ClinVar
RCV000627364	p.Tyr1701Ter	nonsense	-	NC_000014.9:g.95094149G>C	ClinVar
rs875989780	p.Tyr1701Ter	stop gained	-	NC_000014.9:g.95094149G>C	-
rs875989780	p.Tyr1701Ter	stop gained	-	NC_000014.9:g.95094149G>T	-
RCV000240919	p.Gln1702Ter	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094148G>A	ClinVar
RCV000494634	p.Gln1702Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95094148G>A	ClinVar
rs886037723	p.Gln1702Ter	stop gained	-	NC_000014.9:g.95094148G>A	-
COSM3499482	p.Arg1703Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95094145G>T	NCI-TCGA Cosmic
RCV000231550	p.Arg1703Cys	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094145G>A	ClinVar
rs878855272	p.Arg1703Cys	missense variant	-	NC_000014.9:g.95094145G>A	TOPMed,gnomAD
COSM1371844	p.Glu1705Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95094139C>G	NCI-TCGA Cosmic
COSM959251	p.Glu1705Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95094139C>T	NCI-TCGA Cosmic
COSM959250	p.Glu1705Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95094138T>G	NCI-TCGA Cosmic
VAR_067091	p.Glu1705Lys	Missense	-	-	UniProt
RCV000474549	p.Phe1706Leu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094134G>T	ClinVar
rs1060503635	p.Phe1706Leu	missense variant	-	NC_000014.9:g.95094134G>T	-
RCV000240960	p.Gly1708Glu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094129C>T	ClinVar
rs886037724	p.Gly1708Glu	missense variant	-	NC_000014.9:g.95094129C>T	-
RCV000546662	p.Asp1709Gly	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094126T>C	ClinVar
COSM959249	p.Asp1709Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95094127C>T	NCI-TCGA Cosmic
rs1555366979	p.Asp1709Gly	missense variant	-	NC_000014.9:g.95094126T>C	-
rs1555366979	p.Asp1709Gly	missense variant	-	NC_000014.9:g.95094126T>C	UniProt,dbSNP
VAR_067093	p.Asp1709Gly	missense variant	-	NC_000014.9:g.95094126T>C	UniProt
VAR_081918	p.Asp1709Tyr	Missense	Global developmental delay, lung cysts, overgrowth, and Wilms tumor (GLOW) [MIM:618272]	-	UniProt
VAR_067092	p.Asp1709Glu	Missense	-	-	UniProt
VAR_067094	p.Asp1709Asn	Missense	-	-	UniProt
NCI-TCGA novel	p.Asp1713Tyr	missense variant	-	NC_000014.9:g.95094115C>A	NCI-TCGA
VAR_081919	p.Asp1713Val	Missense	Global developmental delay, lung cysts, overgrowth, and Wilms tumor (GLOW) [MIM:618272]	-	UniProt
rs1433832479	p.Tyr1714His	missense variant	-	NC_000014.9:g.95094112A>G	gnomAD
NCI-TCGA novel	p.Tyr1714SerPheSerTerUnk	frameshift	-	NC_000014.9:g.95094112_95094113insGTGCT	NCI-TCGA
NCI-TCGA novel	p.Tyr1714Ter	stop gained	-	NC_000014.9:g.95094110_95094111insT	NCI-TCGA
rs1269643869	p.Leu1715Arg	missense variant	-	NC_000014.9:g.95094108A>C	gnomAD
rs1488309058	p.Lys1718Arg	missense variant	-	NC_000014.9:g.95094099T>C	gnomAD
NCI-TCGA novel	p.Glu1722Lys	missense variant	-	NC_000014.9:g.95094088C>T	NCI-TCGA
rs1555366914	p.Asp1723Glu	missense variant	-	NC_000014.9:g.95094083G>C	-
RCV000535105	p.Asp1723Glu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094083G>C	ClinVar
rs1207697357	p.Pro1724Ala	missense variant	-	NC_000014.9:g.95094082G>C	TOPMed,gnomAD
RCV000545467	p.Pro1724Gln	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094081G>T	ClinVar
NCI-TCGA novel	p.Pro1724Ser	missense variant	-	NC_000014.9:g.95094082G>A	NCI-TCGA
rs749900564	p.Pro1724Arg	missense variant	-	NC_000014.9:g.95094081G>C	ExAC,gnomAD
rs749900564	p.Pro1724Gln	missense variant	-	NC_000014.9:g.95094081G>T	ExAC,gnomAD
rs756827508	p.Arg1725Trp	missense variant	-	NC_000014.9:g.95094079G>A	ExAC,gnomAD
rs751273916	p.Arg1725Gln	missense variant	-	NC_000014.9:g.95094078C>T	ExAC,TOPMed,gnomAD
RCV000557161	p.Gln1726Leu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094075T>A	ClinVar
rs1555366877	p.Gln1726Leu	missense variant	-	NC_000014.9:g.95094075T>A	-
RCV000701569	p.His1727Arg	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094072T>C	ClinVar
rs1262583273	p.His1727Pro	missense variant	-	NC_000014.9:g.95094072T>G	TOPMed
rs762801582	p.Ser1728Phe	missense variant	-	NC_000014.9:g.95094069G>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro1729Gln	missense variant	-	NC_000014.9:g.95094066G>T	NCI-TCGA
RCV000550226	p.Val1731Leu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094061C>G	ClinVar
NCI-TCGA novel	p.Val1731SerPheSerTerUnk	frameshift	-	NC_000014.9:g.95094061C>-	NCI-TCGA
rs1555366846	p.Val1731Leu	missense variant	-	NC_000014.9:g.95094061C>G	-
RCV000240897	p.del1732del	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094059dup	ClinVar
RCV000240897	p.Leu1732Ter	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094059dup	ClinVar
NCI-TCGA novel	p.Asp1734ProPheSerTerUnkUnk	frameshift	-	NC_000014.9:g.95094040_95094053CAGACCGCAGGTCT>-	NCI-TCGA
COSM1300934	p.Asn1742Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95094027T>C	NCI-TCGA Cosmic
rs1196791933	p.Thr1743Ser	missense variant	-	NC_000014.9:g.95094025T>A	gnomAD
RCV000493704	p.Phe1745Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95094019del	ClinVar
COSM213707	p.Ser1747Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95094012G>A	NCI-TCGA Cosmic
rs1161123623	p.Ala1749Thr	missense variant	-	NC_000014.9:g.95094007C>T	TOPMed
RCV000572213	p.Val1750Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95094004C>T	ClinVar
RCV000534697	p.Val1750Ile	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094004C>T	ClinVar
rs1184678913	p.Val1750Ile	missense variant	-	NC_000014.9:g.95094004C>T	gnomAD
RCV000240933	p.del1751del	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094000_95094004del	ClinVar
RCV000240933	p.Lys1751Ter	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95094000_95094004del	ClinVar
RCV000527854	p.Asp1753Glu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95093993G>C	ClinVar
rs1165221864	p.Asp1753Glu	missense variant	-	NC_000014.9:g.95093993G>C	TOPMed
rs1460430963	p.Asp1753Asn	missense variant	-	NC_000014.9:g.95093995C>T	TOPMed
RCV000549329	p.Asp1753Asn	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95093995C>T	ClinVar
rs1423918933	p.Lys1756Arg	missense variant	-	NC_000014.9:g.95093985T>C	gnomAD
RCV000120643	p.Lys1759Arg	missense variant	-	NC_000014.9:g.95093976T>C	ClinVar
rs144259142	p.Lys1759Arg	missense variant	-	NC_000014.9:g.95093976T>C	ESP,ExAC,TOPMed,gnomAD
RCV000654389	p.Val1761Ile	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95093971C>T	ClinVar
rs1555366735	p.Val1761Ala	missense variant	-	NC_000014.9:g.95093970A>G	-
rs1555366740	p.Val1761Ile	missense variant	-	NC_000014.9:g.95093971C>T	-
RCV000565847	p.Val1761Ala	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95093970A>G	ClinVar
RCV000462050	p.Glu1764Ala	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95093961T>G	ClinVar
rs1060503637	p.Glu1764Ala	missense variant	-	NC_000014.9:g.95093961T>G	-
RCV000461220	p.His1767Gln	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95093951A>C	ClinVar
RCV000493189	p.His1767Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95093954del	ClinVar
RCV000240869	p.del1767del	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95093954del	ClinVar
RCV000240869	p.His1767Ter	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95093954del	ClinVar
RCV000493189	p.del1767del	frameshift	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95093954del	ClinVar
rs1060503656	p.His1767Gln	missense variant	-	NC_000014.9:g.95093951A>C	-
rs1296798488	p.His1767Arg	missense variant	-	NC_000014.9:g.95093952T>C	TOPMed
RCV000229765	p.Phe1772Ter	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95093937_95093938del	ClinVar
RCV000657418	p.Phe1772Ter	frameshift	-	NC_000014.9:g.95093937_95093938del	ClinVar
RCV000227591	p.Leu1777Phe	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95093923G>A	ClinVar
rs183879938	p.Leu1777Val	missense variant	-	NC_000014.9:g.95093923G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs780545199	p.Leu1777His	missense variant	-	NC_000014.9:g.95093922A>T	ExAC,gnomAD
rs183879938	p.Leu1777Phe	missense variant	-	NC_000014.9:g.95093923G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000525934	p.Lys1779Glu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95093917T>C	ClinVar
rs1555366685	p.Lys1779Glu	missense variant	-	NC_000014.9:g.95093917T>C	-
RCV000540658	p.Met1782Ile	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95093906C>T	ClinVar
rs1555366679	p.Met1782Ile	missense variant	-	NC_000014.9:g.95093906C>T	-
NCI-TCGA novel	p.Gln1783Ter	stop gained	-	NC_000014.9:g.95093905G>A	NCI-TCGA
RCV000692578	p.Arg1790Lys	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091361C>T	ClinVar
NCI-TCGA novel	p.Arg1791Ile	missense variant	-	NC_000014.9:g.95091358C>A	NCI-TCGA
RCV000565494	p.Ser1792Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95091355G>C	ClinVar
RCV000470444	p.Ser1792Pro	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091356A>G	ClinVar
rs1225830476	p.Ser1792Cys	missense variant	-	NC_000014.9:g.95091355G>C	TOPMed
rs1060503651	p.Ser1792Pro	missense variant	-	NC_000014.9:g.95091356A>G	-
rs766285402	p.Glu1794Asp	missense variant	-	NC_000014.9:g.95091348C>G	ExAC,gnomAD
rs1465785637	p.Asp1795Glu	missense variant	-	NC_000014.9:g.95091345A>T	gnomAD
COSM699754	p.Glu1796Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95091344C>T	NCI-TCGA Cosmic
RCV000240936	p.Glu1799Ter	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091338del	ClinVar
RCV000240936	p.del1799del	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091338del	ClinVar
COSM4053282	p.Asp1801Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95091329C>T	NCI-TCGA Cosmic
COSM959247	p.Glu1803Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95091323C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys1806Asn	missense variant	-	NC_000014.9:g.95091312C>A	NCI-TCGA
RCV000554604	p.Met1808Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091308T>C	ClinVar
rs763241498	p.Met1808Leu	missense variant	-	NC_000014.9:g.95091308T>G	ExAC,gnomAD
rs763241498	p.Met1808Val	missense variant	-	NC_000014.9:g.95091308T>C	ExAC,gnomAD
COSM4169595	p.Gly1809Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95091305C>T	NCI-TCGA Cosmic
COSM3370115	p.Asp1810His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95091302C>G	NCI-TCGA Cosmic
COSM3744763	p.Asp1810Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95091302C>A	NCI-TCGA Cosmic
COSM4169903	p.Asp1810Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95091301T>A	NCI-TCGA Cosmic
COSM959246	p.Asp1810Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95091301T>G	NCI-TCGA Cosmic
rs775912475	p.Asp1810Asn	missense variant	-	NC_000014.9:g.95091302C>T	UniProt,dbSNP
VAR_067096	p.Asp1810Asn	missense variant	-	NC_000014.9:g.95091302C>T	UniProt
rs775912475	p.Asp1810Asn	missense variant	-	NC_000014.9:g.95091302C>T	ExAC,gnomAD
VAR_067095	p.Asp1810His	Missense	-	-	UniProt
VAR_067097	p.Asp1810Tyr	Missense	-	-	UniProt
COSM959245	p.Glu1813Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95091292T>G	NCI-TCGA Cosmic
COSM3738451	p.Glu1813Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95091291C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu1813Gly	missense variant	-	NC_000014.9:g.95091292T>C	NCI-TCGA
VAR_067098	p.Glu1813Gly	Missense	-	-	UniProt
VAR_067100	p.Glu1813Gln	Missense	-	-	UniProt
VAR_067099	p.Glu1813Lys	Missense	-	-	UniProt
RCV000762934	p.Ser1814Leu	missense variant	Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors (MNG1)	NC_000014.9:g.95091289G>A	ClinVar
RCV000851480	p.Ser1814Leu	missense variant	-	NC_000014.9:g.95091289G>A	ClinVar
rs1060503625	p.Ser1814Leu	missense variant	-	NC_000014.9:g.95091289G>A	-
rs1282259682	p.Leu1815Phe	missense variant	-	NC_000014.9:g.95091287G>A	gnomAD
rs1244996889	p.Ala1816Val	missense variant	-	NC_000014.9:g.95091283G>A	gnomAD
NCI-TCGA novel	p.Gly1817Asp	missense variant	-	NC_000014.9:g.95091280C>T	NCI-TCGA
RCV000457347	p.Met1821Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091269T>C	ClinVar
RCV000458610	p.Met1821Leu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091269T>G	ClinVar
COSM959243	p.Met1821Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95091267C>T	NCI-TCGA Cosmic
rs1412965790	p.Met1821Lys	missense variant	-	NC_000014.9:g.95091268A>T	TOPMed
rs1060503604	p.Met1821Val	missense variant	-	NC_000014.9:g.95091269T>C	gnomAD
rs1060503604	p.Met1821Leu	missense variant	-	NC_000014.9:g.95091269T>G	gnomAD
RCV000492838	p.Asp1822Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95091265T>C	ClinVar
RCV000240872	p.Asp1822Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091265T>A	ClinVar
rs886037729	p.Asp1822Val	missense variant	-	NC_000014.9:g.95091265T>A	-
RCV000564741	p.Gly1824Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95091259C>A	ClinVar
RCV000459341	p.Gly1824Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091259C>A	ClinVar
RCV000693668	p.Gly1824Arg	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091260C>G	ClinVar
RCV000563783	p.Gly1824Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95091260C>G	ClinVar
rs752411788	p.Gly1824Arg	missense variant	-	NC_000014.9:g.95091260C>G	-
rs377685186	p.Gly1824Val	missense variant	-	NC_000014.9:g.95091259C>A	ESP,ExAC,TOPMed,gnomAD
COSM4053281	p.Ser1826Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95091254A>G	NCI-TCGA Cosmic
RCV000529758	p.Leu1827Ter	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091251del	ClinVar
RCV000851481	p.Leu1827Ter	frameshift	-	NC_000014.9:g.95091251del	ClinVar
RCV000654397	p.Thr1829Ile	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091244G>A	ClinVar
rs1555366196	p.Thr1829Ile	missense variant	-	NC_000014.9:g.95091244G>A	-
RCV000474798	p.Gln1832Ter	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091236G>A	ClinVar
rs1060503583	p.Gln1832Glu	missense variant	-	NC_000014.9:g.95091236G>C	gnomAD
rs1060503583	p.Gln1832Ter	stop gained	-	NC_000014.9:g.95091236G>A	gnomAD
rs1344743618	p.Gln1832His	missense variant	-	NC_000014.9:g.95091234C>G	gnomAD
RCV000700964	p.Gln1832Arg	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091235T>C	ClinVar
rs1324448543	p.Val1833Gly	missense variant	-	NC_000014.9:g.95091232A>C	gnomAD
RCV000851482	p.Tyr1835Cys	missense variant	-	NC_000014.9:g.95091226T>C	ClinVar
RCV000570256	p.Tyr1835Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95091226T>G	ClinVar
RCV000460203	p.Tyr1835Cys	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091226T>C	ClinVar
RCV000569795	p.Tyr1835Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95091226T>C	ClinVar
rs747510783	p.Tyr1835Cys	missense variant	-	NC_000014.9:g.95091226T>C	ExAC,TOPMed,gnomAD
rs747510783	p.Tyr1835Ser	missense variant	-	NC_000014.9:g.95091226T>G	ExAC,TOPMed,gnomAD
rs1407335437	p.Tyr1835His	missense variant	-	NC_000014.9:g.95091227A>G	gnomAD
RCV000687902	p.Tyr1835Ser	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091226T>G	ClinVar
RCV000706258	p.Tyr1835Ter	frameshift	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091223_95091226del	ClinVar
rs187288681	p.Pro1836Leu	missense variant	-	NC_000014.9:g.95091223G>A	1000Genomes,ExAC,gnomAD
rs187288681	p.Pro1836His	missense variant	-	NC_000014.9:g.95091223G>T	1000Genomes,ExAC,gnomAD
rs747798126	p.Met1837Ile	missense variant	-	NC_000014.9:g.95091219C>T	ExAC,gnomAD
rs1187244456	p.Met1838Ile	missense variant	-	NC_000014.9:g.95091216C>T	gnomAD
RCV000476806	p.Arg1839Gln	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091214C>T	ClinVar
RCV000566657	p.Arg1839Gln	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95091214C>T	ClinVar
RCV000698396	p.Arg1839Trp	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091215G>A	ClinVar
rs1447120867	p.Arg1839Trp	missense variant	-	NC_000014.9:g.95091215G>A	TOPMed,gnomAD
RCV000572507	p.Arg1839Trp	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95091215G>A	ClinVar
rs587778233	p.Arg1839Gln	missense variant	-	NC_000014.9:g.95091214C>T	ExAC,TOPMed,gnomAD
rs754642180	p.Leu1841Pro	missense variant	-	NC_000014.9:g.95091208A>G	ExAC,gnomAD
rs749059266	p.Ile1842Val	missense variant	-	NC_000014.9:g.95091206T>C	ExAC,gnomAD
RCV000227985	p.Ile1842Val	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95091206T>C	ClinVar
COSM4910183	p.Glu1843Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95091108T>A	NCI-TCGA Cosmic
rs1360182417	p.Lys1844Asn	missense variant	-	NC_000014.9:g.95091105C>G	gnomAD
rs1412433775	p.Ala1847Thr	missense variant	-	NC_000014.9:g.95091098C>T	TOPMed
rs748931250	p.Asn1848Asp	missense variant	-	NC_000014.9:g.95091095T>C	ExAC,TOPMed,gnomAD
COSM699755	p.Arg1851Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95091086G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg1851Leu	missense variant	-	NC_000014.9:g.95091085C>A	NCI-TCGA
rs1426678586	p.Arg1851His	missense variant	-	NC_000014.9:g.95091085C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Arg1855Ter	stop gained	-	NC_000014.9:g.95091074G>A	NCI-TCGA
rs1228225906	p.Met1860Ile	missense variant	-	NC_000014.9:g.95091057C>T	TOPMed
COSM2152526	p.Glu1861Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95091056C>T	NCI-TCGA Cosmic
rs1459884777	p.Pro1869Leu	missense variant	-	NC_000014.9:g.95090661G>A	gnomAD
RCV000654379	p.Pro1869Leu	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95090661G>A	ClinVar
NCI-TCGA novel	p.Pro1869Ser	missense variant	-	NC_000014.9:g.95090662G>A	NCI-TCGA
rs1555366012	p.Ala1870Ser	missense variant	-	NC_000014.9:g.95090659C>A	-
rs745601023	p.Asp1875Tyr	missense variant	-	NC_000014.9:g.95090644C>A	ExAC
rs745601023	p.Asp1875Asn	missense variant	-	NC_000014.9:g.95090644C>T	ExAC
rs770962059	p.Gly1876Arg	missense variant	-	NC_000014.9:g.95090641C>T	ExAC,gnomAD
rs1238684646	p.Gly1876Ala	missense variant	-	NC_000014.9:g.95090640C>G	gnomAD
rs746992218	p.Thr1881Ala	missense variant	-	NC_000014.9:g.95090626T>C	ExAC,gnomAD
rs1299000813	p.Glu1883Gly	missense variant	-	NC_000014.9:g.95090619T>C	gnomAD
rs753959216	p.Glu1883Asp	missense variant	-	NC_000014.9:g.95090618T>G	ExAC,gnomAD
NCI-TCGA novel	p.Val1885Ala	missense variant	-	NC_000014.9:g.95090613A>G	NCI-TCGA
RCV000696981	p.Gly1886Arg	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95090611C>G	ClinVar
COSM280382	p.Lys1889Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95090601T>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys1889AsnPheSerTerUnkUnk	frameshift	-	NC_000014.9:g.95090600T>-	NCI-TCGA
rs756385724	p.Gly1892Ala	missense variant	-	NC_000014.9:g.95090592C>G	ExAC,gnomAD
RCV000823022	p.Val1893Ala	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95090589A>G	ClinVar
RCV000575385	p.Val1893Ala	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95090589A>G	ClinVar
RCV000561341	p.Val1893Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95090590C>T	ClinVar
rs1555365992	p.Val1893Ile	missense variant	-	NC_000014.9:g.95090590C>T	-
rs1555365989	p.Val1893Ala	missense variant	-	NC_000014.9:g.95090589A>G	-
NCI-TCGA novel	p.Val1893Phe	missense variant	-	NC_000014.9:g.95090590C>A	NCI-TCGA
NCI-TCGA novel	p.Arg1895Ter	stop gained	-	NC_000014.9:g.95090584G>A	NCI-TCGA
NCI-TCGA novel	p.Arg1898Met	missense variant	-	NC_000014.9:g.95090574C>A	NCI-TCGA
VAR_081920	p.Arg1898Gly	Missense	-	-	UniProt
COSM4402578	p.Ser1902Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95090562G>A	NCI-TCGA Cosmic
COSM3370114	p.Arg1906Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95090549T>G	NCI-TCGA Cosmic
RCV000556473	p.Arg1910Pro	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95090538C>G	ClinVar
rs762281340	p.Arg1910Ter	stop gained	-	NC_000014.9:g.95090539G>A	ExAC,gnomAD
rs1555365979	p.Arg1910Pro	missense variant	-	NC_000014.9:g.95090538C>G	-
RCV000474828	p.Lys1913Arg	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95090529T>C	ClinVar
RCV000765190	p.Lys1913Arg	missense variant	Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors (MNG1)	NC_000014.9:g.95090529T>C	ClinVar
RCV000564664	p.Lys1913Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95090529T>C	ClinVar
rs752116341	p.Lys1913Arg	missense variant	-	NC_000014.9:g.95090529T>C	ExAC,TOPMed,gnomAD
RCV000389746	p.Lys1913Arg	missense variant	Pleuropulmonary blastoma (PPB)	NC_000014.9:g.95090529T>C	ClinVar
rs1178537434	p.Asn1915Ser	missense variant	-	NC_000014.9:g.95090523T>C	TOPMed
RCV000654413	p.Gln1916Ter	nonsense	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95090521G>A	ClinVar
rs1253131536	p.Gln1916Ter	stop gained	-	NC_000014.9:g.95090521G>A	TOPMed
RCV000564271	p.Pro1917Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95090517G>C	ClinVar
rs1555365972	p.Pro1917Arg	missense variant	-	NC_000014.9:g.95090517G>C	-
rs1451403510	p.Gln1918Arg	missense variant	-	NC_000014.9:g.95090514T>C	gnomAD
rs1451403510	p.Gln1918Leu	missense variant	-	NC_000014.9:g.95090514T>A	gnomAD
rs762301997	p.Val1919Ile	missense variant	-	NC_000014.9:g.95090512C>T	ExAC,gnomAD
RCV000574482	p.Asn1921Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000014.9:g.95090505T>C	ClinVar
RCV000538520	p.Asn1921Ser	missense variant	DICER1-related pleuropulmonary blastoma cancer predisposition syndrome (PPB)	NC_000014.9:g.95090505T>C	ClinVar
rs775077210	p.Asn1921His	missense variant	-	NC_000014.9:g.95090506T>G	ExAC,TOPMed,gnomAD
rs764747360	p.Asn1921Ser	missense variant	-	NC_000014.9:g.95090505T>C	ExAC,TOPMed,gnomAD
rs912470196	p.Ser1922Arg	missense variant	-	NC_000014.9:g.95090501G>C	TOPMed,gnomAD
rs1220636958	p.Ser1922Asn	missense variant	-	NC_000014.9:g.95090502C>T	gnomAD
rs886037698	p.Tyr1091Ter	stop gained	-	NC_000014.9:g.95104123G>C	-
rs878855258	p.Glu1167Asp	missense variant	-	NC_000014.9:g.95103895T>A	-
rs867768809	p.Ser1076Arg	missense variant	-	NC_000014.9:g.95105112G>T	-
rs886037729	p.Asp1822Gly	missense variant	-	NC_000014.9:g.95091265T>C	-

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0001418	Adenocarcinoma	group	BEFREE;LHGDN
C0001430	Adenoma	group	BEFREE
C0002793	Anaplasia	disease	BEFREE
C0003810	Sertoli-Leydig cell tumor of ovary	disease	BEFREE;ORPHANET
C0003873	Rheumatoid Arthritis	disease	BEFREE
C0004364	Autoimmune Diseases	group	BEFREE
C0005684	Malignant neoplasm of urinary bladder	disease	BEFREE
C0005695	Bladder Neoplasm	group	BEFREE
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0006288	Bronchopulmonary Sequestration	disease	BEFREE
C0006826	Malignant Neoplasms	group	BEFREE;CGI
C0007102	Malignant tumor of colon	disease	BEFREE
C0007103	Malignant neoplasm of endometrium	disease	BEFREE
C0007117	Basal cell carcinoma	disease	HPO
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0007134	Renal Cell Carcinoma	disease	HPO
C0007193	Cardiomyopathy, Dilated	group	MGD
C0007847	Malignant tumor of cervix	disease	BEFREE
C0009402	Colorectal Carcinoma	disease	BEFREE
C0010709	Cyst	phenotype	BEFREE
C0011570	Mental Depression	disease	BEFREE
C0011581	Depressive disorder	disease	BEFREE
C0011860	Diabetes Mellitus, Non-Insulin-Dependent	disease	BEFREE
C0012236	DiGeorge Syndrome	disease	MGD
C0013080	Down Syndrome	disease	BEFREE
C0014175	Endometriosis	disease	BEFREE;CTD_human
C0016667	Fragile X Syndrome	disease	LHGDN
C0016781	Fuchs Endothelial Dystrophy	disease	BEFREE
C0017638	Glioma	disease	BEFREE
C0018022	Endemic goiter	disease	CLINVAR
C0018213	Graves Disease	disease	BEFREE
C0018413	Gynandroblastoma	disease	BEFREE;ORPHANET
C0018552	Hamartoma	group	BEFREE
C0019829	Hodgkin Disease	disease	BEFREE
C0021294	Infant, Premature	phenotype	BEFREE
C0021364	Male infertility	disease	BEFREE
C0021846	Intestinal Polyps	phenotype	BEFREE
C0023290	Leishmaniasis, Visceral	disease	BEFREE
C0023418	leukemia	disease	BEFREE
C0023434	Chronic Lymphocytic Leukemia	disease	BEFREE
C0023467	Leukemia, Myelocytic, Acute	disease	BEFREE
C0023903	Liver neoplasms	group	BEFREE
C0024121	Lung Neoplasms	group	BEFREE
C0024623	Malignant neoplasm of stomach	disease	BEFREE
C0025149	Medulloblastoma	disease	HPO
C0025202	melanoma	disease	BEFREE
C0025362	Mental Retardation	disease	BEFREE
C0026985	Myelodysplasia	disease	BEFREE
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0027651	Neoplasms	group	BEFREE
C0027672	Neoplastic Syndromes, Hereditary	group	BEFREE;CLINVAR
C0027708	Nephroblastoma	disease	BEFREE;CGI;CTD_human
C0027819	Neuroblastoma	group	BEFREE
C0027962	Melanocytic nevus	disease	BEFREE
C0028754	Obesity	disease	BEFREE
C0028960	Oligospermia	disease	CTD_human
C0029456	Osteoporosis	disease	BEFREE
C0029925	Ovarian Carcinoma	disease	BEFREE
C0032000	Pituitary Adenoma	disease	CGI
C0032002	Pituitary Diseases	group	BEFREE
C0032927	Precancerous Conditions	group	LHGDN
C0034065	Pulmonary Embolism	disease	BEFREE
C0035335	Retinoblastoma	disease	BEFREE
C0035412	Rhabdomyosarcoma	disease	BEFREE;CGI;HPO
C0036341	Schizophrenia	disease	BEFREE;PSYGENET
C0036631	Seminoma	disease	HPO
C0036769	Sertoli Cell Tumor	disease	ORPHANET
C0037286	Skin Neoplasms	group	BEFREE
C0038436	Post-Traumatic Stress Disorder	disease	BEFREE
C0039685	Tetralogy of Fallot	disease	BEFREE
C0040136	Thyroid Neoplasm	disease	BEFREE
C0040137	Thyroid Nodule	disease	BEFREE
C0040580	Tracheal Diseases	group	BEFREE
C0041107	Trisomy	group	BEFREE
C0042769	Virus Diseases	group	BEFREE
C0079772	T-Cell Lymphoma	disease	BEFREE
C0152013	Adenocarcinoma of lung (disorder)	disease	BEFREE
C0153381	Malignant neoplasm of mouth	disease	BEFREE
C0175754	Agenesis of corpus callosum	disease	BEFREE
C0178468	Autoimmune thyroid disease	disease	BEFREE
C0178874	Tumor Progression	phenotype	BEFREE
C0205851	Germ cell tumor	group	BEFREE
C0205898	pineoblastoma	disease	BEFREE;CLINVAR
C0206656	Embryonal Rhabdomyosarcoma	disease	BEFREE;HPO
C0206663	Neuroectodermal Tumor, Primitive	disease	BEFREE
C0206682	Follicular thyroid carcinoma	disease	BEFREE
C0206686	Adrenocortical carcinoma	disease	BEFREE
C0206694	Mucoepidermoid Carcinoma	disease	LHGDN
C0206723	Sertoli-Leydig Cell Tumor	disease	BEFREE;ORPHANET
C0206724	Sex Cord-Stromal Tumor	disease	BEFREE;CGI
C0220641	Lip and Oral Cavity Carcinoma	disease	BEFREE
C0220668	Congenital contractural arachnodactyly	disease	BEFREE
C0221273	Juvenile polyp	disease	BEFREE
C0221406	Pituitary-dependent Cushing's disease	disease	BEFREE
C0232940	Secondary physiologic amenorrhea	disease	BEFREE
C0235974	Pancreatic carcinoma	disease	BEFREE
C0238463	Papillary thyroid carcinoma	disease	HPO
C0242379	Malignant neoplasm of lung	disease	BEFREE
C0242383	Age related macular degeneration	disease	BEFREE
C0260037	Multiple tumors	phenotype	BEFREE
C0265325	Turcot syndrome (disorder)	disease	BEFREE
C0269102	Endometrioma	disease	CTD_human
C0278701	Gastric Adenocarcinoma	disease	BEFREE
C0278996	Malignant Head and Neck Neoplasm	disease	BEFREE
C0279612	Childhood Embryonal Rhabdomyosarcoma	disease	BEFREE
C0280100	Solid Neoplasm	phenotype	BEFREE
C0280317	Squamous cell carcinoma of tonsil	disease	BEFREE
C0280630	Uterine Carcinosarcoma	disease	BEFREE
C0282160	Aplasia Cutis Congenita	disease	BEFREE
C0302592	Cervix carcinoma	disease	BEFREE
C0302859	Euthyroid Goiter	disease	BEFREE;CTD_human;ORPHANET;UNIPROT
C0334401	Malignant Granulosa Cell Tumor	disease	ORPHANET
C0334596	Medulloepithelioma	disease	BEFREE
C0342208	Multinodular goiter	disease	BEFREE;HPO
C0346251	Sarcoma of kidney	disease	BEFREE
C0346647	Malignant neoplasm of pancreas	disease	BEFREE
C0376544	Hematopoietic Neoplasms	group	BEFREE
C0424605	Developmental delay (disorder)	disease	BEFREE
C0476089	Endometrial Carcinoma	disease	BEFREE
C0494165	Secondary malignant neoplasm of liver	disease	BEFREE
C0549473	Thyroid carcinoma	disease	BEFREE;CGI
C0557874	Global developmental delay	disease	BEFREE
C0596263	Carcinogenesis	phenotype	BEFREE
C0598935	Tumor Initiation	phenotype	BEFREE
C0600113	Stromal tumor of ovary	disease	BEFREE
C0600114	Testicular stromal tumor	disease	BEFREE
C0677886	Epithelial ovarian cancer	disease	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0684249	Carcinoma of lung	disease	BEFREE
C0686619	Secondary malignant neoplasm of lymph node	disease	BEFREE
C0699790	Colon Carcinoma	disease	BEFREE
C0699791	Stomach Carcinoma	disease	BEFREE
C0699885	Carcinoma of bladder	disease	BEFREE
C0700095	Central neuroblastoma	disease	BEFREE
C0879615	Stromal Neoplasm	disease	BEFREE
C0919267	ovarian neoplasm	disease	BEFREE;HPO;LHGDN
C0936282	Blastoma	disease	BEFREE
C0948380	Colorectal cancer metastatic	disease	BEFREE
C0949059	Polyp of large intestine	disease	HPO
C1140680	Malignant neoplasm of ovary	disease	BEFREE;HPO
C1168401	Squamous cell carcinoma of the head and neck	disease	BEFREE
C1261473	Sarcoma	group	BEFREE
C1264606	Persistent infection	phenotype	BEFREE
C1266047	Fetal adenocarcinoma	disease	BEFREE
C1266138	Benign cystic nephroma	disease	BEFREE
C1266139	Cystic Partially Differentiated Nephroblastoma	disease	BEFREE
C1266144	Pleuropulmonary blastoma	disease	BEFREE;CGI;CLINGEN;CLINVAR;CTD_human;HPO;UNIPROT
C1306459	Primary malignant neoplasm	group	BEFREE
C1306460	Primary malignant neoplasm of lung	disease	BEFREE
C1318541	Sertoli-Leydig cell tumor of intermediate differentiation	disease	BEFREE
C1320638	Bone marrow myeloid dysplasia	disease	BEFREE
C1337013	Differentiated Thyroid Gland Carcinoma	disease	BEFREE
C1458155	Mammary Neoplasms	group	BEFREE
C1527249	Colorectal Cancer	disease	BEFREE
C1536085	Geographic Atrophy	disease	BEFREE
C1567257	Granulosa Cell Cancer	disease	ORPHANET
C1611743	Familial (FPAH)	disease	BEFREE
C1704376	Uterine Corpus Carcinosarcoma	disease	BEFREE
C1708045	Fetal Lung Adenocarcinoma	disease	BEFREE
C1710499	Pleuropulmonary blastoma type III	disease	BEFREE
C1710501	Pleuropulmonary blastoma type I	disease	BEFREE
C1846034	Euthyroid multinodular goiter	disease	HPO
C1860787	DOWN SYNDROME CRITICAL REGION	disease	BEFREE
C1862314	Basal cell nevus	disease	HPO
C1867234	Rhabdomyosarcoma, Embryonal, 2	disease	CLINVAR;CTD_human
C1883486	Uterine Corpus Cancer	disease	BEFREE
C1883694	Intraocular Medulloepithelioma	disease	BEFREE
C1961099	Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	disease	BEFREE
C2062416	Sindbis virus infection	disease	BEFREE
C2239176	Liver carcinoma	disease	BEFREE
C2347761	Childhood Myelodysplastic Syndrome	disease	BEFREE
C2930471	Bilateral Wilms Tumor	disease	CTD_human
C2931822	Nasopharyngeal carcinoma	disease	BEFREE
C2986703	Overgrowth Syndrome	disease	BEFREE
C3280492	TUMOR PREDISPOSITION SYNDROME	disease	BEFREE
C3463824	MYELODYSPLASTIC SYNDROME	group	BEFREE
C3496549	Male Germ Cell Tumor	disease	CGI
C3501843	Non-medullary thyroid carcinoma	disease	BEFREE
C3501844	Familial Nonmedullary Thyroid Cancer	disease	BEFREE
C3642345	Luminal A Breast Carcinoma	disease	BEFREE
C3665593	Melanocytic nevus of skin	disease	BEFREE
C3714756	Intellectual Disability	group	BEFREE
C3838965	Microcystic stromal tumor	disease	BEFREE
C3839822	DICER1 syndrome	disease	BEFREE
C3900098	Adult Myelodysplastic Syndrome	disease	BEFREE
C4020704	Sertoli cell neoplasm	disease	HPO
C4021768	Abnormality of metabolism/homeostasis	group	HPO
C4048328	cervical cancer	disease	BEFREE
C4053514	Nasal Chondromesenchymal Hamartoma	disease	BEFREE
C4318844	Anaplastic sarcoma	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0003677	DNA binding	IEA
GO:0003723	RNA binding	IBA
GO:0003725	double-stranded RNA binding	IDA
GO:0003725	double-stranded RNA binding	IMP
GO:0004386	helicase activity	IEA
GO:0004521	endoribonuclease activity	IMP
GO:0004521	endoribonuclease activity	TAS
GO:0004521	endoribonuclease activity	IDA
GO:0004525	ribonuclease III activity	EXP
GO:0004525	ribonuclease III activity	IDA
GO:0004525	ribonuclease III activity	IBA
GO:0004530	deoxyribonuclease I activity	IBA
GO:0005515	protein binding	IPI
GO:0005524	ATP binding	IEA
GO:0019904	protein domain specific binding	IPI
GO:0035197	siRNA binding	IDA
GO:0046872	metal ion binding	IEA
GO:0070883	pre-miRNA binding	IDA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000122	negative regulation of transcription by RNA polymerase II	ISS
GO:0006309	apoptotic DNA fragmentation	IBA
GO:0010586	miRNA metabolic process	TAS
GO:0010626	negative regulation of Schwann cell proliferation	ISS
GO:0010629	negative regulation of gene expression	IMP
GO:0014040	positive regulation of Schwann cell differentiation	ISS
GO:0021675	nerve development	ISS
GO:0030422	production of siRNA involved in RNA interference	IDA
GO:0030422	production of siRNA involved in RNA interference	IBA
GO:0030422	production of siRNA involved in RNA interference	TAS
GO:0030423	targeting of mRNA for destruction involved in RNA interference	IMP
GO:0031054	pre-miRNA processing	IDA
GO:0031054	pre-miRNA processing	IBA
GO:0031643	positive regulation of myelination	ISS
GO:0032290	peripheral nervous system myelin formation	ISS
GO:0032720	negative regulation of tumor necrosis factor production	IMP
GO:0033168	conversion of ds siRNA to ss siRNA involved in RNA interference	IMP
GO:0035087	siRNA loading onto RISC involved in RNA interference	IDA
GO:0035148	tube formation	IMP
GO:0035196	production of miRNAs involved in gene silencing by miRNA	ISS
GO:0035196	production of miRNAs involved in gene silencing by miRNA	IDA
GO:0035196	production of miRNAs involved in gene silencing by miRNA	IMP
GO:0035280	miRNA loading onto RISC involved in gene silencing by miRNA	IDA
GO:0036404	conversion of ds siRNA to ss siRNA	IMP
GO:0038061	NIK/NF-kappaB signaling	IDA
GO:0048812	neuron projection morphogenesis	ISS
GO:0090501	RNA phosphodiester bond hydrolysis	IBA
GO:0090502	RNA phosphodiester bond hydrolysis, endonucleolytic	IDA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005634	nucleus	IBA
GO:0005737	cytoplasm	IBA
GO:0005793	endoplasmic reticulum-Golgi intermediate compartment	IEA
GO:0005829	cytosol	TAS
GO:0016442	RISC complex	IDA
GO:0016442	RISC complex	IBA
GO:0030425	dendrite	IEA
GO:0030426	growth cone	IEA
GO:0033167	ARC complex	IC
GO:0070062	extracellular exosome	IDA
GO:0070578	RISC-loading complex	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-203927	MicroRNA (miRNA) biogenesis	TAS
R-HSA-211000	Gene Silencing by RNA	TAS
R-HSA-426486	Small interfering RNA (siRNA) biogenesis	TAS
R-HSA-74160	Gene expression (Transcription)	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C023035	3,4,5,3',4'-pentachlorobiphenyl	3,4,5,3',4'-pentachlorobiphenyl results in increased expression of DICER1 mRNA	28973690
C568862	4-(6-bromo-1,3-benzodioxol-5-yl)-3a,4,5,9b-3H-cyclopenta(c)quinoline	[4-(6-bromo-1,3-benzodioxol-5-yl)-3a,4,5,9b-3H-cyclopenta(c)quinoline co-treated with bisphenol A] results in decreased expression of DICER1 mRNA	31266599
C568862	4-(6-bromo-1,3-benzodioxol-5-yl)-3a,4,5,9b-3H-cyclopenta(c)quinoline	[4-(6-bromo-1,3-benzodioxol-5-yl)-3a,4,5,9b-3H-cyclopenta(c)quinoline co-treated with tetrabromobisphenol A] results in decreased expression of DICER1 mRNA	31266599
C568862	4-(6-bromo-1,3-benzodioxol-5-yl)-3a,4,5,9b-3H-cyclopenta(c)quinoline	[4-(6-bromo-1,3-benzodioxol-5-yl)-3a,4,5,9b-3H-cyclopenta(c)quinoline co-treated with tetrabromobisphenol A] results in decreased expression of DICER1 protein	31266599
C568862	4-(6-bromo-1,3-benzodioxol-5-yl)-3a,4,5,9b-3H-cyclopenta(c)quinoline	[4-(6-bromo-1,3-benzodioxol-5-yl)-3a,4,5,9b-3H-cyclopenta(c)quinoline co-treated with tetrachlorodian] results in decreased expression of DICER1 mRNA	31266599
C568862	4-(6-bromo-1,3-benzodioxol-5-yl)-3a,4,5,9b-3H-cyclopenta(c)quinoline	[4-(6-bromo-1,3-benzodioxol-5-yl)-3a,4,5,9b-3H-cyclopenta(c)quinoline co-treated with tetrachlorodian] results in increased expression of DICER1 protein	31266599
C568862	4-(6-bromo-1,3-benzodioxol-5-yl)-3a,4,5,9b-3H-cyclopenta(c)quinoline	4-(6-bromo-1,3-benzodioxol-5-yl)-3a,4,5,9b-3H-cyclopenta(c)quinoline inhibits the reaction [bisphenol A results in decreased expression of DICER1 protein]	31266599
C568862	4-(6-bromo-1,3-benzodioxol-5-yl)-3a,4,5,9b-3H-cyclopenta(c)quinoline	4-(6-bromo-1,3-benzodioxol-5-yl)-3a,4,5,9b-3H-cyclopenta(c)quinoline results in decreased expression of DICER1 mRNA	31266599
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of DICER1 mRNA	19150397; 20018196;
D015127	9,10-Dimethyl-1,2-benzanthracene	9,10-Dimethyl-1,2-benzanthracene results in increased expression of DICER1 mRNA	24792773
D015127	9,10-Dimethyl-1,2-benzanthracene	9,10-Dimethyl-1,2-benzanthracene results in increased expression of DICER1 protein	24792773
D015127	9,10-Dimethyl-1,2-benzanthracene	Butyric Acid affects the reaction [9,10-Dimethyl-1,2-benzanthracene results in increased expression of DICER1 mRNA]	24792773
D015127	9,10-Dimethyl-1,2-benzanthracene	Butyric Acid affects the reaction [9,10-Dimethyl-1,2-benzanthracene results in increased expression of DICER1 protein]	24792773
D015127	9,10-Dimethyl-1,2-benzanthracene	Glucaric Acid affects the reaction [9,10-Dimethyl-1,2-benzanthracene results in increased expression of DICER1 mRNA]	24792773
D015127	9,10-Dimethyl-1,2-benzanthracene	Glucaric Acid affects the reaction [9,10-Dimethyl-1,2-benzanthracene results in increased expression of DICER1 protein]	24792773
D015127	9,10-Dimethyl-1,2-benzanthracene	Niacinamide affects the reaction [9,10-Dimethyl-1,2-benzanthracene results in increased expression of DICER1 mRNA]	24792773
D015127	9,10-Dimethyl-1,2-benzanthracene	Niacinamide affects the reaction [9,10-Dimethyl-1,2-benzanthracene results in increased expression of DICER1 protein]	24792773
D000082	Acetaminophen	Acetaminophen results in decreased expression of DICER1 mRNA	21420995
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of DICER1 gene	27153756
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of DICER1 mRNA	19770486
D000661	Amphetamine	Amphetamine results in decreased expression of DICER1 mRNA	30779732
D001151	Arsenic	Arsenic affects the methylation of DICER1 gene	25304211
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of DICER1 mRNA	20106945; 21632981;
C006780	bisphenol A	bisphenol A affects the expression of DICER1 mRNA	21786754
C006780	bisphenol A	bisphenol A results in decreased expression of DICER1 mRNA	25181051; 30816183;
C006780	bisphenol A	[4-(6-bromo-1,3-benzodioxol-5-yl)-3a,4,5,9b-3H-cyclopenta(c)quinoline co-treated with bisphenol A] results in decreased expression of DICER1 mRNA	31266599
C006780	bisphenol A	4-(6-bromo-1,3-benzodioxol-5-yl)-3a,4,5,9b-3H-cyclopenta(c)quinoline inhibits the reaction [bisphenol A results in decreased expression of DICER1 protein]	31266599
C006780	bisphenol A	bisphenol A results in decreased expression of DICER1 mRNA	31266599
C006780	bisphenol A	bisphenol A results in decreased expression of DICER1 protein	31266599
C018475	butyraldehyde	butyraldehyde results in decreased expression of DICER1 mRNA	26079696
D020148	Butyric Acid	Butyric Acid affects the reaction [9,10-Dimethyl-1,2-benzanthracene results in increased expression of DICER1 mRNA]	24792773
D020148	Butyric Acid	Butyric Acid affects the reaction [9,10-Dimethyl-1,2-benzanthracene results in increased expression of DICER1 protein]	24792773
C059041	calyculin A	calyculin A results in decreased expression of DICER1 mRNA	25270620
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of DICER1 gene	20938992
C031180	chrysene	chrysene results in increased expression of DICER1 mRNA	26377693
D002945	Cisplatin	Cisplatin results in decreased expression of DICER1 mRNA	27594783
D002945	Cisplatin	Cisplatin results in increased expression of DICER1 protein	21274007
D002945	Cisplatin	[Cisplatin results in increased expression of DICER1 protein] which results in increased metabolism of MIR630	21274007
D002945	Cisplatin	[Cisplatin results in increased phosphorylation of TP63 protein alternative form] promotes the reaction [TP63 protein modified form binds to DICER1 promoter]	21274007
D002945	Cisplatin	[Cisplatin results in increased phosphorylation of TP63 protein alternative form] promotes the reaction [TP63 protein modified form results in increased expression of DICER1 mRNA]	21274007
D002945	Cisplatin	DICER1 mutant form inhibits the reaction [Cisplatin results in increased cleavage of CASP3 protein]	25940438
D002945	Cisplatin	DICER1 mutant form inhibits the reaction [Cisplatin results in increased cleavage of CASP9 protein]	25940438
D002945	Cisplatin	DICER1 mutant form inhibits the reaction [Cisplatin results in increased cleavage of PARP1 protein]	25940438
D002945	Cisplatin	DICER1 protein results in increased susceptibility to Cisplatin	21274007
D007464	Clioquinol	[Clioquinol co-treated with zinc chloride] results in decreased expression of DICER1 protein	22415087
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of DICER1 mRNA	25351418
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of DICER1 protein	25351418
C018021	cobaltous chloride	EZH2 mRNA promotes the reaction [cobaltous chloride deficiency results in decreased expression of DICER1 mRNA]	25351418
D003042	Cocaine	Cocaine results in increased expression of DICER1 mRNA	23226419
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of DICER1 mRNA	19549813
D003375	Coumestrol	Coumestrol results in decreased expression of DICER1 mRNA	19167446
D016572	Cyclosporine	Cyclosporine results in decreased expression of DICER1 mRNA	21632981
D003676	Deferoxamine	Deferoxamine results in decreased expression of DICER1 mRNA	25351418
D003676	Deferoxamine	Deferoxamine results in decreased expression of DICER1 protein	25351418
D003907	Dexamethasone	Dexamethasone inhibits the reaction [RX3 gene mutant form affects the expression of DICER1 mRNA]	27941970
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of DICER1 mRNA	17361019
C036042	dicyclohexyl phthalate	dicyclohexyl phthalate affects the expression of DICER1 mRNA	26924002
C024629	dimethyl phthalate	dimethyl phthalate affects the expression of DICER1 mRNA	26924002
D004147	Dioxins	Dioxins affects the expression of DICER1 mRNA	20463971
D004317	Doxorubicin	Doxorubicin results in decreased expression of DICER1 mRNA	29803840
D004791	Enzyme Inhibitors	[Enzyme Inhibitors results in decreased activity of OGA protein] which results in increased O-linked glycosylation of DICER1 protein	23301498
D004958	Estradiol	Estradiol results in decreased expression of DICER1 mRNA	20106945; 21632981;
D004958	Estradiol	Estradiol results in increased expression of DICER1 mRNA	23019147
D005020	Ethyl Methanesulfonate	Ethyl Methanesulfonate results in decreased expression of DICER1 mRNA	23649840
D005038	Ethylnitrosourea	DICER1 protein affects the reaction [Ethylnitrosourea results in decreased expression of CCNE2 mRNA]	24478143
D005038	Ethylnitrosourea	DICER1 protein affects the reaction [Ethylnitrosourea results in decreased expression of CDKN1A mRNA]	24478143
D005038	Ethylnitrosourea	DICER1 protein affects the reaction [Ethylnitrosourea results in decreased expression of GADD45B mRNA]	24478143
D005038	Ethylnitrosourea	DICER1 protein affects the reaction [Ethylnitrosourea results in decreased expression of JUN mRNA]	24478143
D005038	Ethylnitrosourea	Ethylnitrosourea affects the reaction [DICER1 protein affects the expression of CCNE2 mRNA]	24478143
D005038	Ethylnitrosourea	Ethylnitrosourea results in increased mutagenesis of DICER1 exon	17156454
D005472	Fluorouracil	Fluorouracil results in decreased expression of DICER1 mRNA	16510598
D005485	Flutamide	Flutamide results in decreased expression of DICER1 mRNA	21126777
D005485	Flutamide	Flutamide results in increased expression of DICER1 mRNA	24136188
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of DICER1 gene	20938992
D005557	Formaldehyde	Formaldehyde results in decreased expression of DICER1 mRNA	23649840
D005937	Glucaric Acid	Glucaric Acid affects the reaction [9,10-Dimethyl-1,2-benzanthracene results in increased expression of DICER1 mRNA]	24792773
D005937	Glucaric Acid	Glucaric Acid affects the reaction [9,10-Dimethyl-1,2-benzanthracene results in increased expression of DICER1 protein]	24792773
C586265	GSK343	GSK343 results in increased expression of DICER1 mRNA	25351418
C000593030	GSK-J4	GSK-J4 results in decreased expression of DICER1 mRNA	25351418
D015759	Ionomycin	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of DICER1 mRNA	25613284
C544151	jinfukang	jinfukang results in decreased expression of DICER1 mRNA	27392435
C017461	lead nitrate	[nickel chloride co-treated with lead nitrate] results in increased expression of DICER1 mRNA	19187980
D008627	Mercuric Chloride	Mercuric Chloride affects the expression of DICER1 mRNA	20353558
D008694	Methamphetamine	Methamphetamine results in increased methylation of DICER1 promoter	26307267
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of DICER1 gene	20938992
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of DICER1 mRNA	23649840
C517284	monomethyl phthalate	monomethyl phthalate affects the expression of DICER1 mRNA	26924002
D009536	Niacinamide	Niacinamide affects the reaction [9,10-Dimethyl-1,2-benzanthracene results in increased expression of DICER1 mRNA]	24792773
D009536	Niacinamide	Niacinamide affects the reaction [9,10-Dimethyl-1,2-benzanthracene results in increased expression of DICER1 protein]	24792773
C022838	nickel chloride	[nickel chloride co-treated with lead nitrate] results in increased expression of DICER1 mRNA	19187980
C022838	nickel chloride	nickel chloride results in decreased expression of DICER1 mRNA	17312168
C044387	N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine	N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine results in decreased expression of DICER1 mRNA	12756304
D000077150	Oxaliplatin	[Oxaliplatin co-treated with Topotecan] results in decreased expression of DICER1 mRNA	25729387
D010100	Oxygen	DICER1 protein inhibits the reaction [Oxygen deficiency results in decreased cleavage of MIR200A mRNA]	25351418
D010100	Oxygen	DICER1 protein inhibits the reaction [Oxygen deficiency results in decreased cleavage of MIR200B mRNA]	25351418
D010100	Oxygen	DICER1 protein inhibits the reaction [Oxygen deficiency results in decreased cleavage of MIR429 mRNA]	25351418
D010100	Oxygen	DICER1 protein inhibits the reaction [Oxygen deficiency results in decreased expression of CDH1 mRNA]	25351418
D010100	Oxygen	DICER1 protein inhibits the reaction [Oxygen deficiency results in increased expression of ZEB1 mRNA]	25351418
D010100	Oxygen	Oxygen deficiency promotes the reaction [EZH2 protein binds to DICER1 promoter]	25351418
D010100	Oxygen	Oxygen deficiency promotes the reaction [KDM6A protein binds to DICER1 promoter]	25351418
D010100	Oxygen	Oxygen deficiency promotes the reaction [KDM6B protein binds to DICER1 promoter]	25351418
D010100	Oxygen	Oxygen deficiency results in decreased expression of DICER1 mRNA	25351418
D010100	Oxygen	Oxygen deficiency results in decreased expression of DICER1 protein	25351418
D052638	Particulate Matter	Particulate Matter results in decreased expression of DICER1 mRNA	15046786
D052638	Particulate Matter	Particulate Matter results in decreased expression of DICER1 protein	20658469
C076994	perfluorooctane sulfonic acid	perfluorooctane sulfonic acid results in decreased expression of DICER1 mRNA	27153767
D010795	Phthalic Acids	Phthalic Acids results in increased expression of DICER1 mRNA	21061450
C006253	pirinixic acid	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of DICER1 mRNA	19710929
D010936	Plant Extracts	Plant Extracts results in increased expression of DICER1 mRNA	23557933
D011374	Progesterone	Progesterone results in increased expression of DICER1 mRNA	20852728
D020849	Raloxifene Hydrochloride	Raloxifene Hydrochloride results in decreased expression of DICER1 mRNA	16497877
D012643	Selenium	Selenium results in decreased expression of DICER1 mRNA	19244175
C017947	sodium arsenite	DICER1 protein promotes the reaction [sodium arsenite results in increased cleavage of TRA-CGC3-1]	30442959
C017947	sodium arsenite	sodium arsenite results in increased expression of DICER1 mRNA	24431212
D053260	Soot	DICER1 gene SNP affects the susceptibility to Soot	20211803
D000077210	Sunitinib	Sunitinib results in increased expression of DICER1 mRNA	31533062
C020806	tetrabromobisphenol A	[4-(6-bromo-1,3-benzodioxol-5-yl)-3a,4,5,9b-3H-cyclopenta(c)quinoline co-treated with tetrabromobisphenol A] results in decreased expression of DICER1 mRNA	31266599
C020806	tetrabromobisphenol A	[4-(6-bromo-1,3-benzodioxol-5-yl)-3a,4,5,9b-3H-cyclopenta(c)quinoline co-treated with tetrabromobisphenol A] results in decreased expression of DICER1 protein	31266599
C020806	tetrabromobisphenol A	tetrabromobisphenol A results in decreased expression of DICER1 mRNA	31266599
C020806	tetrabromobisphenol A	tetrabromobisphenol A results in decreased expression of DICER1 protein	31266599
C041181	tetrachlorodian	[4-(6-bromo-1,3-benzodioxol-5-yl)-3a,4,5,9b-3H-cyclopenta(c)quinoline co-treated with tetrachlorodian] results in decreased expression of DICER1 mRNA	31266599
C041181	tetrachlorodian	[4-(6-bromo-1,3-benzodioxol-5-yl)-3a,4,5,9b-3H-cyclopenta(c)quinoline co-treated with tetrachlorodian] results in increased expression of DICER1 protein	31266599
C041181	tetrachlorodian	tetrachlorodian results in decreased expression of DICER1 mRNA	31266599
C041181	tetrachlorodian	tetrachlorodian results in increased expression of DICER1 protein	31266599
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of DICER1 mRNA	21570461
D013755	Tetradecanoylphorbol Acetate	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of DICER1 mRNA	25613284
D013792	Thalidomide	Thalidomide results in increased expression of DICER1 mRNA	28892372
D019772	Topotecan	[Oxaliplatin co-treated with Topotecan] results in decreased expression of DICER1 mRNA	25729387
D019772	Topotecan	Topotecan results in decreased expression of DICER1 mRNA	25729387
D014414	Tungsten	Tungsten results in decreased expression of DICER1 mRNA	30912803
D014415	Tunicamycin	Tunicamycin results in decreased expression of DICER1 mRNA	17127020
D014520	Urethane	Urethane results in decreased expression of DICER1 mRNA	28818685
D014635	Valproic Acid	Valproic Acid affects the expression of DICER1 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased expression of DICER1 mRNA	23179753; 27188386;
D014635	Valproic Acid	Valproic Acid results in decreased methylation of DICER1 gene	29154799
D014635	Valproic Acid	Valproic Acid affects the expression of DICER1 mRNA	17292431
D001335	Vehicle Emissions	Vehicle Emissions results in decreased expression of DICER1 mRNA	15046786
D001335	Vehicle Emissions	Vehicle Emissions results in decreased methylation of DICER1 gene	25560391
D014810	Vitamin E	Vitamin E results in decreased expression of DICER1 mRNA	19244175
C016837	zinc chloride	[Clioquinol co-treated with zinc chloride] results in decreased expression of DICER1 protein	22415087
D019287	Zinc Sulfate	Zinc Sulfate results in increased expression of DICER1 mRNA	12756304

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0025	Alternative splicing
KW-0067	ATP-binding
KW-0963	Cytoplasm
KW-0225	Disease mutation
KW-0255	Endonuclease
KW-0347	Helicase
KW-0378	Hydrolase
KW-0460	Magnesium
KW-0464	Manganese
KW-0479	Metal-binding
KW-0540	Nuclease
KW-0547	Nucleotide-binding
KW-0597	Phosphoprotein
KW-1185	Reference proteome
KW-0677	Repeat
KW-0694	RNA-binding
KW-0943	RNA-mediated gene silencing

Interpro

InterPro ID	InterPro Term
IPR038248	Dicer_dimer_sf
IPR005034	Dicer_dimerisation_dom
IPR014720	dsRBD_dom
IPR006935	Helicase/UvrB_N
IPR014001	Helicase_ATP-bd
IPR001650	Helicase_C
IPR027417	P-loop_NTPase
IPR003100	PAZ_dom
IPR036085	PAZ_dom_sf
IPR000999	RNase_III_dom
IPR036389	RNase_III_sf

PROSITE

PROSITE ID	PROSITE Term
PS51327	DICER_DSRBF
PS50137	DS_RBD
PS51192	HELICASE_ATP_BIND_1
PS51194	HELICASE_CTER
PS50821	PAZ
PS00517	RNASE_3_1
PS50142	RNASE_3_2

Pfam

Pfam ID	Pfam Term
PF03368	Dicer_dimer
PF00271	Helicase_C
PF02170	PAZ
PF04851	ResIII
PF00636	Ribonuclease_3

Gene: DICER1

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Identified variants/mutations related to cleft phenotype

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction