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	Gene Summary
	Translation studies in PubMed
	Exon Skipping Events
	Expression
	Expression Regulation
	Associated Genes
	Protein 3D Structure
	Protein-Protein Interaction
	Mutations
	Prognostic Analysis
	Gender Association
	Age Association
	Related Drugs
	Related Diseases

Translation Factor: HNRNPU (NCBI Gene ID:3192)

Gene Summary

Gene Summary

Gene Information	Gene Name: HNRNPU
	Gene ID: 3192
	Gene Symbol	HNRNPU
	Gene ID	3192
	Gene Name	heterogeneous nuclear ribonucleoprotein U
	Synonyms	EIEE54\|GRIP120\|HNRNPU-AS1\|HNRPU\|SAF-A\|SAFA\|U21.1\|hnRNP U\|pp120
	Cytomap	1q44
	Type of Gene	protein-coding
	Description	heterogeneous nuclear ribonucleoprotein UHNRNPU antisense RNA 1heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)nuclear p120 ribonucleoproteinp120 nuclear protein
	Modification date	20200313
	UniProtAcc	Q00839

Child GO biological process term(s) under GO:0006412

GO ID	GO term
GO:0017148	Negative regulation of translation
GO:0006417	Regulation of translation
GO:0045727	Positive regulation of translation
GO:0002181	Cytoplasmic translation
GO:0006412	Translation

Gene ontology of translaction factor with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Hgene	HNRNPU	GO:0000381	regulation of alternative mRNA splicing, via spliceosome	22325991
Hgene	HNRNPU	GO:0048255	mRNA stabilization	17174306
Hgene	HNRNPU	GO:0071385	cellular response to glucocorticoid stimulus	9353307

Inferred gene age of translation factor.

Gene	Inferred gene age group among (0 - 67.6], (67.6 - 355.7], (355.7 - 733], (733 - 1119.25], >1119.25
HNRNPU	(355.7 - 733]

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Translation Studies in PubMed

We searched PubMed using 'HNRNPU[title] AND translation [title] AND human.'

Gene	Title	PMID
HNRNPU	.	.

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Exon Skipping Events

Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure.
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
For more annotations, please visit our ExonSkipDB.

Open reading frame (ORF) analsis of exon skipping events based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.

ENST

Exon skip start (DNA)

Exon Skip end (DNA)

ORF

Exon skipping position in the amino acid sequence.

ENST

Exon skip start (DNA)

Exon Skip end (DNA)

Len(transcript seq)

Exon skip start (mRNA)

Exon Skip end (mRNA)

Len(amino acid seq)

Exon skip start (AA)

Exon Skip end (AA)

Potentially (partially) lost protein functional features of UniProt.

UniProtAcc

Exon skip start (AA)

Exon Skip end (AA)

Function feature start (AA)

Function feature end (AA)

Functional feature type

Functional feature desc.

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Expression

Gene expression level across TCGA pancancer

Gene expression level across GTEx pantissue

Expression level of gene isoforms across TCGA pancancer

Expression level of gene isoforms across GTEx pantissue

Cancer(tissue) type-specific expression level of Translation factor using z-score distriution

Differential expression between tumor and matched normal (in the cancer types with more than 10 matched samples)

Cancer type	Translation factor	FC	adj.pval
COAD	HNRNPU	-3.25414367586013	0.000109195709228516
KICH	HNRNPU	1.45270865891102	0.000376403331756592
PRAD	HNRNPU	-3.59255010200453	0.00074054058184854
STAD	HNRNPU	-1.26566952320815	2.26888805627823e-05
LIHC	HNRNPU	-1.06098658215773	2.35319665208461e-06

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Expression Regulation

Translation factor expression regulation through miRNA binding

Cancer type	Gene	miRNA	TargetScan binding score (Context++ score percentile)	Coefficient	Pvalue
LIHC	HNRNPU	hsa-miR-132-3p	95	0.306588148693412	0.00688951977991919

Translation factor expression regulation through methylation in the promoter of Translation factor

Cancer type

Gene

methyl group b

methyl group a

DEG pval

avg methyl in b

avg methyl in a

avg exp in b

avg exp in a

Translation factor expression regulation through methylation in the gene body of Translation factor (positive regulation)

Cancer type

Gene

methyl group b

methyl group a

DEG pval

avg methyl in b

avg methyl in a

avg exp in b

avg exp in a

Translation factor expression regulation through copy number variation of Translation factor

Cancer type	Gene	Coefficient	Pvalue
PCPG	HNRNPU	-0.176341935	0.02837665

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Associated Genes

Strongly correlated genes belong to cellular important gene groups with HNRNPU (coefficient>0.8, pval<0.05, node color based on FC between tumor and matched normal). Significantly associated important genes in the individual cancer types. * Cell metabolism gene: cell metabolism genes from REACTOME (black edge), IUPHAR: drug target genes from IUPHAR (blue edge), Kinase: human kinase genes (brown edge), CGC: cancer gene census genes (orange edge), TSG: tumor suppresor genes (purple edge), Epifactor: epigenetic factors (light blue edge), TF: transcription factors (green)

Cancer type	Gene group	Translation factor	Correlated gene	Coefficient	Pvalue
CHOL	Cell metabolism gene	HNRNPU	POLR3C	0.806073312	2.37E-11
CHOL	Cell metabolism gene	HNRNPU	TOMM20	0.806668125	2.24E-11
CHOL	Cell metabolism gene	HNRNPU	CCT3	0.811098327	1.42E-11
CHOL	Cell metabolism gene	HNRNPU	EPRS	0.826850443	2.59E-12
CHOL	Cell metabolism gene	HNRNPU	SMG7	0.854196171	8.59E-14
CHOL	TF	HNRNPU	ZNF496	0.801637184	3.68E-11
CHOL	TF	HNRNPU	POGK	0.835125459	9.87E-13
TGCT	CGC	HNRNPU	SFPQ	0.815869699	1.81E-38
TGCT	Epifactor	HNRNPU	SFPQ	0.815869699	1.81E-38
THYM	Cell metabolism gene	HNRNPU	POLE3	0.800824645	1.73E-28
THYM	Cell metabolism gene	HNRNPU	HPRT1	0.801724004	1.36E-28
THYM	Cell metabolism gene	HNRNPU	PPP2CA	0.818014139	1.33E-30
THYM	CGC	HNRNPU	STIL	0.835066259	6.25E-33
THYM	CGC	HNRNPU	HNRNPA2B1	0.83794635	2.38E-33
THYM	Epifactor	HNRNPU	POLE3	0.800824645	1.73E-28
THYM	Epifactor	HNRNPU	TAF5	0.81165662	8.55E-30
THYM	Epifactor	HNRNPU	PPP2CA	0.818014139	1.33E-30
THYM	Epifactor	HNRNPU	RAD54B	0.823757204	2.34E-31
THYM	Epifactor	HNRNPU	WHSC1	0.829905045	3.37E-32
THYM	Epifactor	HNRNPU	HELLS	0.834241754	8.21E-33
THYM	Epifactor	HNRNPU	UBR7	0.847907372	7.23E-35
THYM	Epifactor	HNRNPU	ATAD2	0.848804595	5.21E-35
THYM	Epifactor	HNRNPU	ANP32E	0.86418413	1.35E-37
THYM	IUPHAR	HNRNPU	ATAD2	0.848804595	5.21E-35
THYM	TF	HNRNPU	ZNF367	0.822903995	3.04E-31
THYM	TSG	HNRNPU	ECT2	0.801484277	1.45E-28
THYM	TSG	HNRNPU	PPP2CA	0.818014139	1.33E-30
THYM	TSG	HNRNPU	PTENP1	0.824755833	1.72E-31
UCS	Cell metabolism gene	HNRNPU	POLE3	0.800824645	1.73E-28
UCS	Cell metabolism gene	HNRNPU	HPRT1	0.801724004	1.36E-28
UCS	Cell metabolism gene	HNRNPU	PPP2CA	0.818014139	1.33E-30
UCS	CGC	HNRNPU	STIL	0.835066259	6.25E-33
UCS	CGC	HNRNPU	HNRNPA2B1	0.83794635	2.38E-33
UCS	Epifactor	HNRNPU	POLE3	0.800824645	1.73E-28
UCS	Epifactor	HNRNPU	TAF5	0.81165662	8.55E-30
UCS	Epifactor	HNRNPU	PPP2CA	0.818014139	1.33E-30
UCS	Epifactor	HNRNPU	RAD54B	0.823757204	2.34E-31
UCS	Epifactor	HNRNPU	WHSC1	0.829905045	3.37E-32
UCS	Epifactor	HNRNPU	HELLS	0.834241754	8.21E-33
UCS	Epifactor	HNRNPU	UBR7	0.847907372	7.23E-35
UCS	Epifactor	HNRNPU	ATAD2	0.848804595	5.21E-35
UCS	Epifactor	HNRNPU	ANP32E	0.86418413	1.35E-37
UCS	IUPHAR	HNRNPU	ATAD2	0.848804595	5.21E-35
UCS	TF	HNRNPU	ZNF367	0.822903995	3.04E-31
UCS	TSG	HNRNPU	ECT2	0.801484277	1.45E-28
UCS	TSG	HNRNPU	PPP2CA	0.818014139	1.33E-30
UCS	TSG	HNRNPU	PTENP1	0.824755833	1.72E-31

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Protein structure

Protein 3D structure
Visit iCn3D.

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Protein-Protein Interaction

Protein-protein interaction networks
* Overlap between up-regulated DEGs (log2FC<-1 and adj.P<0.05) and STRING PPI network (center: Translation factor, node: DEGs, edges: weighted by -log2(adj.P))

Overlap between down-regulated DEGs (log2FC>1 and adj.P<0.05) and STRING PPI network (center: Translation factor, node: DEGs, edges: weighted by -log2(adj.P))

* Edge colors based on TCGA cancer types.

* Overlap between DEGs (log2FC>1 and adj.P<0.05) and STRING PPI network per cancer (center: Translation factor, node: DEGs, node color: log2FC, edges: weighted by -log2(adj.P))

Cancer type	Translation factor	Interacting protein coding gene	FC	adj.pval
STAD	HNRNPU	DHX9	-1.35515869279777	0.00016188295558095
BLCA	HNRNPU	DHX9	2.25372387794619	0.00026702880859375
LUAD	HNRNPU	HNRNPA1	-1.17680399824906	0.000379797766386831
KIRP	HNRNPU	HNRNPM	1.09986207254202	0.000557802151888609
ESCA	HNRNPU	HNRNPD	-3.95797649272358	0.0009765625
ESCA	HNRNPU	HNRNPL	-1.16655433995144	0.0009765625
HNSC	HNRNPU	HNRNPC	-1.91657217726541	0.00135036232768471
ESCA	HNRNPU	HNRNPA2B1	-2.24071084404038	0.001953125
HNSC	HNRNPU	HNRNPM	1.0802378757943	0.00213058477788764
STAD	HNRNPU	SYNCRIP	-3.24695040489934	0.00222697434946895
COAD	HNRNPU	HNRNPD	-6.12601039633597	0.00427913665771485
LIHC	HNRNPU	HNRNPC	-1.08887561103821	0.00496795806084514
COAD	HNRNPU	HNRNPH1	-2.11871535965424	0.00513318181037904
KICH	HNRNPU	HNRNPD	-1.0797746293114	0.00737094879150391
THCA	HNRNPU	HNRNPK	-8.73422542563389	0.00797530353045887
ESCA	HNRNPU	HNRNPM	-1.56536258867093	0.013671875
UCEC	HNRNPU	HNRNPC	1.18749806735276	0.03125
UCEC	HNRNPU	HNRNPK	1.64532744504864	0.03125
BRCA	HNRNPU	HNRNPM	-2.73301500774431	1.13298150184532e-06
LUAD	HNRNPU	HNRNPD	-3.62564314494355	1.52449212829498e-06
STAD	HNRNPU	HNRNPM	-1.22623521570847	1.72760337591171e-07
THCA	HNRNPU	SYNCRIP	-3.15946429809988	2.46790521879123e-10
BRCA	HNRNPU	HNRNPL	-8.42108765925633	3.18828038788597e-25
LUAD	HNRNPU	HNRNPA2B1	-2.16187850025926	3.35714679190986e-07
STAD	HNRNPU	HNRNPA2B1	-2.06227271079898	4.5965425670147e-06
KIRC	HNRNPU	HNRNPA1	-6.80688842701016	6.00852501097204e-09
LUSC	HNRNPU	HNRNPA1	-2.597423841764	9.46872220956927e-06

Protein-protein interactors with this translation factor (BIOGRID-3.4.160)

PPI interactors with HNRNPU

SFN, EP300, PRMT1, NR3C1, GTF2F1, POLR2A, CDK7, NDN, GPN1, CDK9, RUVBL2, HNRNPH1, POLR2J, MYC, MAX, PML, RARA, EMD, MORF4L1, MORF4L2, MRGBP, DOT1L, NPM1, UBC, SNW1, DGCR8, RBM39, NOP56, DYRK2, STAU1, Trim69, Ybx1, Recql4, Cdk1, Ctcf, AI837181, Ndc80, IKBKB, NFKBIA, EBNA-LP, BTRC, VHL, RNF146, SMARCAD1, SREK1, KDM4B, RAD21, NDRG1, HDGF, CENPA, ACTB, SF3A2, ARRB1, ARRB2, ERG, ISG15, NFX1, CUL3, CUL5, CUL2, CDK2, CUL1, COPS5, DCUN1D1, CAND1, NEDD8, GRK5, INPPL1, GRB2, UBXN6, HNRNPK, HNRNPA1, YBX1, EFTUD2, SRSF1, SNRPA1, HNRNPA3, SNRPD1, PRPF8, SNRNP200, SRSF7, PTBP1, U2AF2, U2AF1, SF3A1, PABPC1, NHP2L1, RNPS1, SRSF11, SNRPA, SRSF3, PRPF4, SNRNP70, RPS15A, RPS23, RPL19, RPL6, RPL7A, RPL18, RPS13, RSL1D1, RPS6, RPL7, RPL12, RPS2, RPL18A, RPLP0, RPL23A, EIF4A3, RPS3, NONO, RPS26, TRA2B, RPS4X, HNRNPA0, UPF1, RPS11, RPS24, RPL5, RPLP1, RALY, SART1, RPS16, RPS8, SRRM2, RPLP2, NOP58, RPS14, RPL30, SMU1, USP39, MCM5, LUC7L3, SAP18, EIF6, MYH9, IK, NOP2, THRAP3, GTF3C1, WDR18, MRPS16, FTSJ3, RRS1, LAMP2, TPBG, MRPL52, RRP7A, TRIM55, MRPL42, PCDHA2, NFIA, MRPS34, KRT3, MARCKS, UTP14A, SEPT7, LBR, PDHA2, TRA2A, PRPH, LIMS1, MRPS28, MTCH1, MTCH2, SLC7A5, PGRMC1, RFC4, ATP6V1B1, LAPTM4A, VTN, TMX2, RHOB, KIAA2013, MRPL23, PCDH7, NCSTN, RPL10L, SND1, PTCD1, MRPL44, MRPL48, ZC3H18, ICT1, ITGB4, PTPN1, MRPL51, LMAN1, TPR, SLC25A17, SEPT2, VDAC2, KRT14, ITGA5, MRPL10, LSM14A, S100A9, MRPL13, WBSCR16, SLC25A32, MAGOH, SMURF1, PNKP, FN1, VCAM1, SYNCRIP, HNRNPD, HNRNPH3, IFIT3, IL7R, MAP1LC3A, vif, UBL4A, ITGA4, DHX9, K3, ZNF689, PAN2, CD81, IGSF8, ICAM1, ADRB2, BAG3, CDKN2A, TARDBP, PARK2, TCERG1, PRPF40A, WBP4, GAS7, NEDD4, PIN1, G3BP1, ABCF1, C14orf166, NELFB, YBX3, DDX1, DIMT1, EIF2B2, EIF2B3, EIF3C, EIF3D, FKBP3, FUS, IGF2BP3, ILF2, KRT18, NMT1, RPL35, RPS27, RPS29, MRE11A, rev, SHFM1, RPA3, RPA2, RPA1, WWOX, HSPA5, UBASH3B, LGR4, IVNS1ABP, MDM2, AURKA, AURKB, CEP250, CEP57, HAUS2, CEP70, CEP76, LGALS3BP, MAGED2, NEDD1, TP53, TUBG1, TUBGCP3, TUBGCP4, HUWE1, FBXW11, KAT2B, PHF6, CUL7, OBSL1, CCDC8, UBE2I, EED, RNF2, TXNDC16, PRMT8, RPS6KB2, HSPB1, UNK, NTRK1, CALR, ATP5A1, BTF3L4, EIF3J, HSPA9, MATR3, MDC1, PDCD6, RAB2A, RPL22, RPS25, RPS3A, SAFB, SLC25A5, SMEK2, TRIP10, WRAP53, HSP90B1, PSMD6, RPN1, SCARNA22, Pou3f4, PTEN, AHSA1, CACNA2D1, CHD1, DDX5, EIF2B1, ERCC6, FBL, HIST1H1B, HNRNPA2B1, HNRNPAB, HNRNPC, HNRNPL, RPL10, EXOSC4, MRPL50, CDKN2AIP, HSD17B4, IFI16, IGHMBP2, ILF3, RPSA, RPL10A, NVL, EXOSC10, RFC1, RFC2, RFC3, RFC5, RPL3, RPL4, RPL8, RPL9, RPL11, RPL13, RPL15, RPL17, RPL21, RPL24, RPL27, RPL27A, RPL28, RPL32, RPL36A, RPS5, RPS7, RPS9, RPS10, RPS12, RPS15, RPS17, RPS18, RPS19, RPS21, SRP72, SURF6, TOP2A, TPD52, UBA52, UBTF, DAP3, HIST1H2BL, SMARCA5, PABPC4, DDX18, EIF2B4, H1FX, BAZ1B, DDX21, RPL23, TTC37, PHF14, ESPL1, KIAA0020, HNRNPDL, CEBPZ, ALYREF, HNRNPR, NPM3, MYBBP1A, RPP38, TBL3, IGF2BP1, WDR3, POP1, EBNA1BP2, KRR1, SUPT16H, XRN2, DHX30, PDCD11, RBM34, RRP1B, MRPS27, PHF8, METAP1, FAM120A, RRP12, LARP1, RPL13A, GTPBP4, C3orf17, RPL36, SPATS2L, SERBP1, NOC2L, FBXL6, GNL3, AATF, MRPL46, TRUB2, STAU2, C19orf53, UHRF1, GNL2, PKN3, HP1BP3, RRP15, FCF1, UTP18, MRPS2, MRTO4, HERC5, DDX47, MRPL27, NIP7, RTCB, ESF1, MRPS33, DHX29, GNL3L, GTPBP2, FOCAD, FAM120C, CDCA4, RBM28, SRBD1, NAT10, BRIX1, LYAR, DDX27, TSR1, RIOK2, NKRF, MEPCE, BCCIP, PNO1, DHX33, DDX24, AVEN, REXO4, THAP11, CBX8, USP36, MRPS35, EEFSEC, MRPS14, NOC3L, MRPS25, DDX31, YTHDC2, C12orf43, MRPS15, MRPS9, MRPL38, NBEAL1, NOL6, KRI1, SPATS2, DDX50, DDX54, CCDC86, C14orf169, MUS81, PRR3, TRMT1L, C18orf21, UTP23, GLYR1, MINA, LTV1, SAMD1, ZNF622, TADA1, KRBA2, WDR36, RPP25L, EME1, CENPV, POC1B, CCDC137, Eif3a, Eif3e, Sart3, Rpl35, Srp72, Rrbp1, Fbxw11, GAN, CRY1, UBQLN2, MACROD1, TRIM29, MCM2, CDC5L, SHC1, RC3H1, CRBN, NCL, CYLD, TRIM25, CENPW, BRCA1, LMNA, MTF1, RNF169, HDAC6, IFNAR1, FBXO7, API5, CTNNB1, GSK3A, PCBP1, TMPO, PPIE, YAP1, BCL2L1, BMP4, GALE, HDAC4, TGFB1, TRIP4, AAR2, PIH1D1, CHD3, CHD4, RNF4, LARP7, RNF31, TNF, SPDL1, RIOK1, HEXIM1, RUNX1, RNF123, PPT1, SNAI1, AGR2, RECQL4, DCPS, GPC1, REST, ZFP36L2, KRT17, METTL3, METTL14, WTAP, KIAA1429, EIF4B, RC3H2, ZBTB7A, PHB, FAF1, RBX1, SSBP1, ARMC12, TMEM41B, CHEK2, USP14, HIV2gp3, NR2C2, ZFYVE21, CTCF, ATXN3, BRF1, VRK1, VRK3, GBAS, HIST1H4A, APEX1, OASL, Dppa3, TAF15, ITFG1, GSK3B, ARAF, HMGB1, BIRC3, WWP2, BRD7, SOX2, TRIM28, CMTR1, RBPMS2, ARIH2, PLEKHA4, MAGEA3, PINK1, TFCP2, WHSC1, FANCD2, HCVgp1, RAB5A, RPS6KA3, DLG1, HIST3H3, GNPTAB, FRY, OTUD6B, MAP10, MAP4K5, SH3GL3, LRRIQ3, PAX4, RAD17, H1F0, DBT, ZNF35, ITGAL, PRDM2, EIF3A, GOLGB1, CNGA3, HIST2H2BE, CDC42BPA, ATRNL1, TTC33, ZC3H14, FGD6, SBF2, TMEM139, SORCS2, SLC35A5, NT5C1A, EBPL, C5orf42, ZNF442, DNAH1, BAIAP2L1, EXOC7, ARFGEF1, AK1, KIAA0753, GK3P, GOLGA8CP, STXBP3, PLCH2, TOM1L1, CCR1, SLC44A4, NAA16, SERTAD1, CCDC178, SNIP1, S, SMC1A, SMC3, STAG2, MAU2, CELF1, ELAVL1, DUX4, CIT, ANLN, CHMP4B, ECT2, KIF14, KIF20A, KIF23, PRC1, INS, SUMO2, BRD4, RBM45, CIC, N, Apc2, FBP1, MKRN1, LGALS9, EIF3F, USP10, vpr, RIN3, EIF3H, POU2F1, BAG5, SPOP, AR, UFL1, DDRGK1, DDX39B, TRIM37, ATG3, FZR1, WDR5, PAGE4, NUDCD2, NAA40, BGLT3, MRPL32, MRPL16, MCAT, MRPS11, MTERF3, MRPS30, MRPL45, MRPS21, ZFR, MRPS22, MRPL40, SPPL3, SART3, MRPL47, MRPS5, MRPL39, NGRN, PTCD3, MOV10, MRPS26, MRPL35, CLTCL1, C20orf197, YARS2, MRPL55, MRPS31, KPNA2, YTHDC1, FASTKD2, MRPL4, RPUSD4, STRBP, DHX36, MRPS10, MRPL49, MRPS18B, NUP153, MRPS24, LARP1B, MRPL57, KPNB1, MRPL28, MRPL1, MRPL9, SUPV3L1, MRPL24, MRPL21, MRPL15, MRPL30, MRPL17, MRPS18C, APOBEC3F, NOA1, MRPL2, GADD45GIP1, ANGEL2, MRPL3, DTX3, SPRTN, USP11, BTF3, NLRP7, AGO2, AGO1, RCHY1, DIDO1, CCNF, CALCOCO2, RB1CC1, MAGEL2, ZEB1, MKRN3,

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Mutations

Clinically associated variants from ClinVar.

Gene	Chr	Position	RefSeq	VarSeq	RefSeeq	VarType	Pathogenic	Disease	VarInfo
HNRNPU	chr1	245017464	T	TA	Duplication	Benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
HNRNPU	chr1	245017464	T	TAA	Duplication	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
HNRNPU	chr1	245017464	TA	T	Deletion	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
HNRNPU	chr1	245017758	AT	TC	Indel	Pathogenic	Epileptic_encephalopathy,_early_infantile,_54	SO:0001587\|nonsense	SO:0001587\|nonsense
HNRNPU	chr1	245017764	T	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245017766	G	A	single_nucleotide_variant	Benign	Myoclonic_absence_seizure	SO:0001587\|nonsense	SO:0001587\|nonsense
HNRNPU	chr1	245017807	T	A	single_nucleotide_variant	Likely_pathogenic	Epileptic_encephalopathy,_early_infantile,_54	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
HNRNPU	chr1	245017807	T	C	single_nucleotide_variant	Pathogenic	Epileptic_encephalopathy,_early_infantile,_54	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
HNRNPU	chr1	245017812	G	A	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245018259	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245018291	T	C	single_nucleotide_variant	Uncertain_significance	Epileptic_encephalopathy,_early_infantile,_54\|heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245018296	G	A	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245018324	T	C	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245018456	TAGCA	T	Microsatellite	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245018624	C	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245018712	T	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245018728	G	C	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245018737	T	C	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245018744	G	A	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245018757	CCT	C	Microsatellite	Likely_pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
HNRNPU	chr1	245018765	G	A	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245018772	CCT	C	Microsatellite	Pathogenic	Intellectual_disability_and_seizures	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
HNRNPU	chr1	245018775	CTGTT	C	Deletion	Conflicting_interpretations_of_pathogenicity	Inborn_genetic_diseases\|heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
HNRNPU	chr1	245018783	G	GTAAC	Duplication	Pathogenic	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001587\|nonsense	SO:0001587\|nonsense
HNRNPU	chr1	245018789	A	AC	Duplication	Pathogenic	Intellectual_disability	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
HNRNPU	chr1	245018793	C	T	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245018806	CAG	C	Deletion	Pathogenic	Epileptic_encephalopathy\|not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
HNRNPU	chr1	245018809	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245018812	C	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245018815	G	A	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245018817	GGGTAT	G	Deletion	Pathogenic	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
HNRNPU	chr1	245018830	C	T	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245018831	G	A	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_54	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245018837	ACCACTTCCT	A	Deletion	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
HNRNPU	chr1	245018851	C	T	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245018852	G	A	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245018879	C	A	single_nucleotide_variant	Uncertain_significance	Inborn_genetic_diseases	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245018885	A	G	single_nucleotide_variant	Benign/Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245018894	G	A	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245018909	G	A	single_nucleotide_variant	Benign/Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human\|History_of_neurodevelopmental_disorder\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245018910	G	A	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245018910	GC	G	Deletion	Likely_pathogenic	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
HNRNPU	chr1	245018911	C	A	single_nucleotide_variant	Pathogenic	not_provided	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
HNRNPU	chr1	245018914	AAAGAC	A	Deletion	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245018919	C	CA	Duplication	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245018922	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245019167	G	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245019204	GCCT	G	Microsatellite	Conflicting_interpretations_of_pathogenicity	Epileptic_encephalopathy,_early_infantile,_54\|heterogeneous_nuclear_ribonucleoprotein_G,_human\|History_of_neurodevelopmental_disorder\|not_provided
HNRNPU	chr1	245019207	T	G	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245019207	T	TCC	Duplication	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
HNRNPU	chr1	245019254	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245019255	A	G	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245019262	C	T	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245019287	C	CA	Duplication	Pathogenic	Inborn_genetic_diseases\|History_of_neurodevelopmental_disorder	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
HNRNPU	chr1	245019290	T	C	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245019314	A	G	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245019321	G	A	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245019328	T	C	single_nucleotide_variant	Uncertain_significance	HNRNPU-related_developmental_and_epileptic_encephalopathy	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245019330	C	T	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245019360	T	C	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245019364	T	C	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245019377	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245019405	T	C	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245019419	T	C	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245019421	T	G	single_nucleotide_variant	Benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245019444	T	G	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245019447	G	A	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245019461	C	T	single_nucleotide_variant	Pathogenic	not_provided	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
HNRNPU	chr1	245019467	G	C	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245019724	A	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245019776	G	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245019778	A	G	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245019796	C	G	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245019803	ACTT	A	Deletion	Uncertain_significance	not_provided	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
HNRNPU	chr1	245019819	G	A	single_nucleotide_variant	Pathogenic	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
HNRNPU	chr1	245019845	T	C	single_nucleotide_variant	Uncertain_significance	Epileptic_encephalopathy,_early_infantile,_54	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245019846	T	C	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245019858	C	CA	Duplication	Pathogenic	Epileptic_encephalopathy,_early_infantile,_54	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
HNRNPU	chr1	245019870	G	A	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
HNRNPU	chr1	245019877	G	A	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245019886	C	T	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245019901	C	T	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245019931	T	TA	Duplication	Benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245019964	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245019974	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245020020	T	G	single_nucleotide_variant	Benign	heterogeneous_nuclear_ribonucleoprotein_G,_human\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245020022	C	A	single_nucleotide_variant	Benign/Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245020022	C	T	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245020024	GC	G	Deletion	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245020026	G	A	single_nucleotide_variant	Benign	heterogeneous_nuclear_ribonucleoprotein_G,_human\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245020030	C	G	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245020030	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245020035	C	T	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245020059	G	A	single_nucleotide_variant	Pathogenic	Intellectual_disability\|Seizures\|Epileptic_encephalopathy	SO:0001587\|nonsense	SO:0001587\|nonsense
HNRNPU	chr1	245020063	A	G	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_54\|heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245020091	T	TG	Duplication	Pathogenic	Epileptic_encephalopathy,_early_infantile,_54\|heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
HNRNPU	chr1	245020092	G	A	single_nucleotide_variant	Pathogenic	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
HNRNPU	chr1	245020098	C	CT	Duplication	Pathogenic	Intellectual_disability	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
HNRNPU	chr1	245020104	G	A	single_nucleotide_variant	Pathogenic	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
HNRNPU	chr1	245020108	CA	C	Deletion	Pathogenic	Epileptic_encephalopathy,_early_infantile,_54	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
HNRNPU	chr1	245020119	G	A	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245020131	C	T	single_nucleotide_variant	Uncertain_significance	Epileptic_encephalopathy,_early_infantile,_54\|heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245020144	C	T	single_nucleotide_variant	Likely_benign	History_of_neurodevelopmental_disorder	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245020149	AACCTGCC	A	Deletion	Likely_pathogenic	not_provided
HNRNPU	chr1	245020166	C	G	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245020168	A	G	single_nucleotide_variant	Benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245020285	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245020367	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245020442	AACTT	A	Deletion	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245020563	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245020893	T	C	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245020922	T	C	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245020924	T	C	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245020939	A	G	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245020948	T	C	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245020966	T	C	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245020970	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245020971	T	C	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245020978	G	A	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245020995	CT	C	Deletion	Pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
HNRNPU	chr1	245020998	G	A	single_nucleotide_variant	Uncertain_significance	Inborn_genetic_diseases	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245021005	AATC	A	Microsatellite	Likely_pathogenic	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
HNRNPU	chr1	245021012	A	C	single_nucleotide_variant	Uncertain_significance	Inborn_genetic_diseases	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245021022	A	G	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245021132	C	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245021151	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245021291	TA	T	Deletion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245021306	C	A	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245021314	T	TCA	Microsatellite	Pathogenic	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
HNRNPU	chr1	245021319	A	G	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245021320	T	C	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245021330	C	T	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245021347	C	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	heterogeneous_nuclear_ribonucleoprotein_G,_human\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245021349	T	C	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245021356	C	T	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245021357	G	A	single_nucleotide_variant	Pathogenic	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
HNRNPU	chr1	245021368	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	heterogeneous_nuclear_ribonucleoprotein_G,_human\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245021373	G	A	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245021378	G	A	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
HNRNPU	chr1	245021383	A	C	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245021385	A	C	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245021386	G	T	single_nucleotide_variant	Uncertain_significance	Epileptic_encephalopathy,_early_infantile,_54	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245021394	T	C	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245021396	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245021402	T	C	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245021403	T	C	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245021412	T	C	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245021416	T	C	single_nucleotide_variant	Benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245021439	T	G	single_nucleotide_variant	Uncertain_significance	Epileptic_encephalopathy,_early_infantile,_54	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245021457	G	A	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245021469	C	A	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245021478	T	C	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245021483	G	A	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245021488	G	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Epileptic_encephalopathy,_early_infantile,_54\|heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245021515	G	C	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245021519	C	T	single_nucleotide_variant	Uncertain_significance	Epileptic_encephalopathy,_early_infantile,_54\|heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245021520	G	A	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245021524	AG	A	Deletion	Pathogenic	Epileptic_encephalopathy,_early_infantile,_54	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
HNRNPU	chr1	245021525	G	C	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245021533	C	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Epileptic_encephalopathy,_early_infantile,_54\|heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245021535	A	G	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_54\|heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245021539	T	C	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human\|History_of_neurodevelopmental_disorder	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245021547	C	A	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245021547	C	T	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245021548	G	A	single_nucleotide_variant	Uncertain_significance	Epileptic_encephalopathy,_early_infantile,_54\|heterogeneous_nuclear_ribonucleoprotein_G,_human\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245021556	T	C	single_nucleotide_variant	Benign/Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human\|History_of_neurodevelopmental_disorder\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245021563	T	C	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245021581	T	C	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245021776	A	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245021905	AC	A	Deletion	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245021984	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245022023	T	G	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245022026	C	T	single_nucleotide_variant	Pathogenic	Epileptic_encephalopathy,_early_infantile,_54\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245022045	T	C	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245022046	C	T	single_nucleotide_variant	Benign/Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human\|History_of_neurodevelopmental_disorder\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245022047	A	G	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245022053	T	G	single_nucleotide_variant	Benign/Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245022055	TTCA	T	Microsatellite	Likely_benign	not_provided	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
HNRNPU	chr1	245022072	C	T	single_nucleotide_variant	Uncertain_significance	Intellectual_disability\|Seizures	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245022073	A	G	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245022075	A	G	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245022078	C	G	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245022079	T	C	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245022086	TCA	T	Microsatellite	Pathogenic	Epileptic_encephalopathy,_early_infantile,_54	SO:0001587\|nonsense	SO:0001587\|nonsense
HNRNPU	chr1	245022092	T	G	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245022094	G	A	single_nucleotide_variant	Likely_benign	not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245022103	T	TA	Duplication	Pathogenic	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
HNRNPU	chr1	245022105	T	C	single_nucleotide_variant	Uncertain_significance	Epileptic_encephalopathy,_early_infantile,_54\|heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245022123	C	CA	Duplication	Pathogenic	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
HNRNPU	chr1	245022132	ATTC	A	Microsatellite	Uncertain_significance	not_provided	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
HNRNPU	chr1	245022142	A	C	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245022144	C	T	single_nucleotide_variant	Likely_pathogenic	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
HNRNPU	chr1	245022145	TAAGAA	T	Deletion	Conflicting_interpretations_of_pathogenicity	heterogeneous_nuclear_ribonucleoprotein_G,_human\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245022149	A	G	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245022152	A	G	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245022152	ATAAT	A	Microsatellite	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245022173	G	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245022424	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245022553	A	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245022568	A	C	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245022571	C	A	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245022576	C	G	single_nucleotide_variant	Likely_pathogenic	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
HNRNPU	chr1	245022588	C	G	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245022605	C	G	single_nucleotide_variant	Uncertain_significance	History_of_neurodevelopmental_disorder	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245022605	C	T	single_nucleotide_variant	Pathogenic	Epileptic_encephalopathy	SO:0001587\|nonsense	SO:0001587\|nonsense
HNRNPU	chr1	245022607	AG	A	Deletion	Pathogenic	Inborn_genetic_diseases	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
HNRNPU	chr1	245022608	G	A	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245022608	GC	G	Deletion	Pathogenic	Inborn_genetic_diseases	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
HNRNPU	chr1	245022613	T	C	single_nucleotide_variant	Uncertain_significance	Epileptic_encephalopathy,_early_infantile,_54\|heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245022630	T	A	single_nucleotide_variant	Uncertain_significance	Epileptic_encephalopathy,_early_infantile,_54	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245022632	AAT	A	Microsatellite	Pathogenic	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
HNRNPU	chr1	245022659	T	C	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245022684	T	A	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245022689	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245023311	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245023365	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245023494	TGA	T	Microsatellite	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245023520	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245023587	A	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245023627	T	C	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245023629	G	A	single_nucleotide_variant	Benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245023638	T	G	single_nucleotide_variant	Uncertain_significance	Intellectual_disability	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245023654	C	G	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245023656	T	G	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245023673	A	G	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_54\|heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245023684	T	C	single_nucleotide_variant	Likely_pathogenic	Inborn_genetic_diseases	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245023718	T	C	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245023727	A	G	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245023740	C	T	single_nucleotide_variant	Uncertain_significance	Epileptic_encephalopathy,_early_infantile,_54	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245023746	C	A	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245023779	G	A	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245023785	A	G	single_nucleotide_variant	Benign	heterogeneous_nuclear_ribonucleoprotein_G,_human\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245023786	T	C	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245023845	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245023870	C	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245025692	A	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245025693	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245025716	A	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245025765	G	A	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245025774	C	A	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245025791	G	A	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245025800	ATCT	A	Microsatellite	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human\|not_provided	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
HNRNPU	chr1	245025801	T	C	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245025803	T	A	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245025823	G	T	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245025827	A	C	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245025839	G	A	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245025843	G	A	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245025910	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245025919	A	G	single_nucleotide_variant	Likely_pathogenic	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
HNRNPU	chr1	245025921	C	T	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245025970	C	A	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245025974	TCGTGGTC	T	Deletion	Pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
HNRNPU	chr1	245026019	T	C	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245026035	A	G	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245026349	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245026377	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245026697	G	GAC	Microsatellite	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245026697	G	GACAC	Microsatellite	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245026697	GAC	G	Microsatellite	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245026697	GACAC	G	Microsatellite	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245026720	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245026722	A	ACACG	Insertion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245026722	A	ACG	Microsatellite	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245026722	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245026793	C	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245026856	TG	T	Deletion	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
HNRNPU	chr1	245026927	G	C	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
HNRNPU	chr1	245026930	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	heterogeneous_nuclear_ribonucleoprotein_G,_human\|not_provided	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
HNRNPU	chr1	245026941	ACCGCCGCCT	A	Microsatellite	Conflicting_interpretations_of_pathogenicity	heterogeneous_nuclear_ribonucleoprotein_G,_human\|not_provided	SO:0001822\|inframe_deletion,SO:0001627\|intron_variant	SO:0001822\|inframe_deletion,SO:0001627\|intron_variant
HNRNPU	chr1	245026946	C	T	single_nucleotide_variant	Uncertain_significance	not_specified	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
HNRNPU	chr1	245026949	C	CTCCGCCGCCT	Duplication	Pathogenic	not_provided	SO:0001589\|frameshift_variant,SO:0001627\|intron_variant	SO:0001589\|frameshift_variant,SO:0001627\|intron_variant
HNRNPU	chr1	245026949	CTCCGCCGCCT	C	Deletion	Conflicting_interpretations_of_pathogenicity	Epileptic_encephalopathy\|Epileptic_encephalopathy,_early_infantile,_54\|heterogeneous_nuclear_ribonucleoprotein_G,_human\|not_provided	SO:0001589\|frameshift_variant,SO:0001627\|intron_variant	SO:0001589\|frameshift_variant,SO:0001627\|intron_variant
HNRNPU	chr1	245026951	C	A	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
HNRNPU	chr1	245026964	CCTT	C	Microsatellite	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001822\|inframe_deletion,SO:0001627\|intron_variant	SO:0001822\|inframe_deletion,SO:0001627\|intron_variant
HNRNPU	chr1	245026966	TT	GC	Indel	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
HNRNPU	chr1	245026981	G	GC	Duplication	Pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
HNRNPU	chr1	245026988	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Epileptic_encephalopathy,_early_infantile,_54\|heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001587\|nonsense	SO:0001587\|nonsense
HNRNPU	chr1	245026988	G	C	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245026989	C	G	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245026989	C	T	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human\|History_of_neurodevelopmental_disorder\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245026995	C	T	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245026996	T	C	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245026999	C	G	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245027001	C	T	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245027002	G	T	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245027003	C	T	single_nucleotide_variant	Uncertain_significance	not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245027007	G	A	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245027007	G	C	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245027009	G	A	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245027013	C	CG	Duplication	Likely_pathogenic	Intellectual_disability	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
HNRNPU	chr1	245027014	G	A	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245027032	AGCGAGGTGGGGCCGCT	A	Deletion	Pathogenic	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
HNRNPU	chr1	245027035	G	T	single_nucleotide_variant	Pathogenic	Epileptic_encephalopathy,_early_infantile,_54	SO:0001587\|nonsense	SO:0001587\|nonsense
HNRNPU	chr1	245027038	G	GTGGGGCCGCTGCTCTTCCCCGC	Duplication	Pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
HNRNPU	chr1	245027042	G	C	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245027043	G	A	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245027049	G	A	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245027056	C	A	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245027057	C	T	single_nucleotide_variant	Uncertain_significance	Epileptic_encephalopathy,_early_infantile,_54	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245027059	G	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245027068	T	C	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245027069	T	C	single_nucleotide_variant	Uncertain_significance	Epileptic_encephalopathy,_early_infantile,_54	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245027077	C	G	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245027079	G	T	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245027089	T	C	single_nucleotide_variant	Uncertain_significance	Seizures	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245027090	G	A	single_nucleotide_variant	Pathogenic	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
HNRNPU	chr1	245027094	C	G	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245027099	G	A	single_nucleotide_variant	Pathogenic	Epileptic_encephalopathy,_early_infantile,_54	SO:0001587\|nonsense	SO:0001587\|nonsense
HNRNPU	chr1	245027103	C	G	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245027103	C	T	single_nucleotide_variant	Benign/Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human\|History_of_neurodevelopmental_disorder\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245027115	C	T	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245027118	T	C	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245027125	TG	T	Deletion	Pathogenic	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
HNRNPU	chr1	245027129	G	A	single_nucleotide_variant	Pathogenic	Epileptic_encephalopathy,_early_infantile,_54\|heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001587\|nonsense	SO:0001587\|nonsense
HNRNPU	chr1	245027140	C	T	single_nucleotide_variant	Uncertain_significance	Epileptic_encephalopathy,_early_infantile,_54	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245027141	C	G	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245027145	C	A	single_nucleotide_variant	Uncertain_significance	Epileptic_encephalopathy,_early_infantile,_54	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245027152	C	T	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245027153	C	G	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245027155	G	A	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245027157	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245027169	G	C	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245027169	G	T	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245027171	C	A	single_nucleotide_variant	Uncertain_significance	History_of_neurodevelopmental_disorder	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245027171	C	T	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245027181	A	G	single_nucleotide_variant	Benign	Epileptic_encephalopathy,_early_infantile,_54\|heterogeneous_nuclear_ribonucleoprotein_G,_human\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245027187	C	A	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245027190	T	G	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245027192	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245027195	G	A	single_nucleotide_variant	Likely_pathogenic	Epileptic_encephalopathy,_early_infantile,_54	SO:0001587\|nonsense	SO:0001587\|nonsense
HNRNPU	chr1	245027207	CGT	C	Deletion	Likely_pathogenic	Epileptic_encephalopathy,_early_infantile,_54	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
HNRNPU	chr1	245027208	G	A	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245027216	T	C	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245027217	C	T	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245027220	G	A	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245027226	C	T	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245027230	G	A	single_nucleotide_variant	Uncertain_significance	Epileptic_encephalopathy,_early_infantile,_54\|heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245027233	G	GCCT	Microsatellite	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001821\|inframe_insertion	SO:0001821\|inframe_insertion
HNRNPU	chr1	245027233	GCCT	G	Microsatellite	Conflicting_interpretations_of_pathogenicity	Epileptic_encephalopathy,_early_infantile,_54\|heterogeneous_nuclear_ribonucleoprotein_G,_human\|not_provided	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
HNRNPU	chr1	245027235	C	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245027235	CT	GG	Indel	Benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245027236	T	G	single_nucleotide_variant	Benign/Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245027249	T	C	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245027251	G	C	single_nucleotide_variant	Benign	heterogeneous_nuclear_ribonucleoprotein_G,_human\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245027257	G	T	single_nucleotide_variant	Pathogenic	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
HNRNPU	chr1	245027263	G	A	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245027274	G	A	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_54\|heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245027287	TCTCCTAG	T	Deletion	Pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
HNRNPU	chr1	245027292	T	C	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245027293	A	G	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245027294	G	A	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245027303	G	A	single_nucleotide_variant	Pathogenic	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001587\|nonsense	SO:0001587\|nonsense
HNRNPU	chr1	245027308	C	T	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245027309	C	G	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245027322	G	A	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245027326	C	CCTTCCTCCTCCTCTTCCT	Duplication	Uncertain_significance	not_provided	SO:0001821\|inframe_insertion	SO:0001821\|inframe_insertion
HNRNPU	chr1	245027328	T	C	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245027328	T	TTCCTCC	Microsatellite	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001821\|inframe_insertion	SO:0001821\|inframe_insertion
HNRNPU	chr1	245027331	C	T	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245027334	C	CTCCTCT	Microsatellite	Likely_benign	not_provided	SO:0001821\|inframe_insertion	SO:0001821\|inframe_insertion
HNRNPU	chr1	245027334	CTCCTCT	C	Microsatellite	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human\|not_provided	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
HNRNPU	chr1	245027346	TTCC	T	Microsatellite	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
HNRNPU	chr1	245027346	TTCCTCC	T	Microsatellite	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
HNRNPU	chr1	245027349	C	T	single_nucleotide_variant	Benign	Epileptic_encephalopathy,_early_infantile,_54\|heterogeneous_nuclear_ribonucleoprotein_G,_human\|History_of_neurodevelopmental_disorder\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245027356	T	TC	Duplication	Pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
HNRNPU	chr1	245027375	C	T	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245027376	G	C	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245027387	C	G	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245027388	G	C	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245027399	C	G	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245027403	GCGCCCAGCGGAATCCC	G	Deletion	Pathogenic	heterogeneous_nuclear_ribonucleoprotein_G,_human\|not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
HNRNPU	chr1	245027404	C	G	single_nucleotide_variant	Benign	heterogeneous_nuclear_ribonucleoprotein_G,_human\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245027428	T	C	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245027432	G	A	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245027438	C	T	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245027444	CG	C	Deletion	Pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
HNRNPU	chr1	245027453	TGGCGGGGC	T	Deletion	Uncertain_significance	Intellectual_disability\|Seizures	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
HNRNPU	chr1	245027460	GCGGCCCC	G	Deletion	Pathogenic	Epileptic_encephalopathy,_early_infantile,_54	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
HNRNPU	chr1	245027461	C	A	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245027469	G	A	single_nucleotide_variant	Benign/Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human\|History_of_neurodevelopmental_disorder\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245027477	C	G	single_nucleotide_variant	Uncertain_significance	Epileptic_encephalopathy,_early_infantile,_54	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245027478	G	A	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245027481	G	A	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245027485	A	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245027486	G	A	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_54\|heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245027527	T	C	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245027529	G	A	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245027531	CAGAA	C	Deletion	Likely_pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
HNRNPU	chr1	245027543	G	A	single_nucleotide_variant	Likely_pathogenic	Epileptic_encephalopathy,_early_infantile,_54	SO:0001587\|nonsense	SO:0001587\|nonsense
HNRNPU	chr1	245027548	T	C	single_nucleotide_variant	Uncertain_significance	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001583\|missense_variant	SO:0001583\|missense_variant
HNRNPU	chr1	245027564	G	A	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245027576	TCAGCTTTTTTACATTAA	T	Deletion	Likely_pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
HNRNPU	chr1	245027580	C	T	single_nucleotide_variant	Likely_benign	heterogeneous_nuclear_ribonucleoprotein_G,_human	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
HNRNPU	chr1	245027594	C	AAT	Indel	Pathogenic	Epileptic_encephalopathy,_early_infantile,_54	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
HNRNPU	chr1	245027650	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
HNRNPU	chr1	245027750	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
HNRNPU	chr1	245028017	T	G	single_nucleotide_variant	Benign	not_provided

nsSNVs with sample frequency (size of circle) from TCGA 33 cancers.

SNVs and Indels

Gene	Cancer type	Chromosome	Start	End	RefSeeq	MutSeq	Mutation type	AAchange	# samples
HNRNPU	LIHC	chr1	245027581	245027581	T	-	Frame_Shift_Del	p.K10fs	5
HNRNPU	UCEC	chr1	245020049	245020049	C	T	Missense_Mutation	p.R575Q	4
HNRNPU	LUAD	chr1	245018903	245018903	C	T	Silent	p.G706G	4
HNRNPU	KIRC	chr1	245022119	245022119	T	C	Missense_Mutation	p.Y362C	4
HNRNPU	LIHC	chr1	245027132	245027132	C	-	Frame_Shift_Del	p.E160fs	3
HNRNPU	PAAD	chr1	245027598	245027598	C	T	Silent	p.S4S	3
HNRNPU	UCEC	chr1	245022609	245022609	C	A	Missense_Mutation	p.G362V	3
HNRNPU	HNSC	chr1	245019248	245019248	G	A	Missense_Mutation	p.R709C	3
HNRNPU	BRCA	chr1	245025803	245025803	T	A	Missense_Mutation	p.E279D	3
HNRNPU	BRCA	chr1	245027315	245027315	G	A	Silent	p.L99	3
HNRNPU	CESC	chr1	245020903	245020903	C	T	Missense_Mutation		2
HNRNPU	UCEC	chr1	245019767	245019767	T	G	Missense_Mutation	p.K635T	2
HNRNPU	ESCA	chr1	245018808	245018808	G	A	Missense_Mutation	p.P757L	2
HNRNPU	UCEC	chr1	245027595	245027595	A	G	Silent	p.P5	2
HNRNPU	CESC	chr1	245022598	245022598	T	G	Missense_Mutation		2
HNRNPU	KIRP	chr1	245018785	245018785	A	G	Missense_Mutation	p.Y765H	2
HNRNPU	PAAD	chr1	245027598	245027598	C	T	Silent		2
HNRNPU	UCEC	chr1	245019774	245019774	C	T	Missense_Mutation	p.V633I	2
HNRNPU	STAD	chr1	245019225	245019225	A	G	Silent	p.G716G	2
HNRNPU	UCEC	chr1	245019775	245019775	C	T	Silent	p.A632	2
HNRNPU	STAD	chr1	245017773	245017773	A	G	Silent	p.H819H	2
HNRNPU	ESCA	chr1	245018808	245018808	G	A	Missense_Mutation		2
HNRNPU	STAD	chr1	245017759	245017759	T	C	Missense_Mutation	p.Y824C	2
HNRNPU	LGG	chr1	245027151	245027151	G	A	Silent	p.G153G	2
HNRNPU	UCEC	chr1	245021391	245021391	C	A	Missense_Mutation	p.E472D	2
HNRNPU	STAD	chr1	245022628	245022628	T	C	Missense_Mutation	p.I356V	2
HNRNPU	SKCM	chr1	245018852	245018852	G	A	Silent	p.G723G	2
HNRNPU	UCEC	chr1	245021577	245021577	C	A	Splice_Site	e7-1	2
HNRNPU	STAD	chr1	245022042	245022042	T	C	Missense_Mutation	p.T407A	2
HNRNPU	SKCM	chr1	245019892	245019892	C	T	Missense_Mutation	p.M574I	2
HNRNPU	UCEC	chr1	245022044	245022044	A	C	Missense_Mutation	p.I406S	2
HNRNPU	STAD	chr1	245021316	245021316	A	G	Silent	p.C497C	2
HNRNPU	SKCM	chr1	245018278	245018278	C	T	Silent	p.Q788Q	2
HNRNPU	UCEC	chr1	245022653	245022653	C	T	Silent	p.R347	2
HNRNPU	UCEC	chr1	245018303	245018303	G	A	Missense_Mutation	p.S799F	2
HNRNPU	SKCM	chr1	245019253	245019253	C	T	Missense_Mutation	p.R688K	2
HNRNPU	UCEC	chr1	245023703	245023703	A	T	Silent	p.A317	2
HNRNPU	UCEC	chr1	245018831	245018831	G	A	Silent	p.I749	2
HNRNPU	COAD	chr1	245027349	245027349	C	T	Silent	p.E87E	2
HNRNPU	UCEC	chr1	245023760	245023760	A	G	Silent	p.H298	2
HNRNPU	LUAD	chr1	245018847	245018847	C	A	Missense_Mutation	p.G725V	2
HNRNPU	TGCT	chr1	245027349	245027349	C	T	Silent		2
HNRNPU	UCEC	chr1	245019366	245019366	A	G	Silent	p.Y669	2
HNRNPU	LIHC	chr1	245018327	245018327	T	-	Frame_Shift_Del	p.N773fs	2
HNRNPU	UCEC	chr1	245025940	245025940	C	A	Nonsense_Mutation	p.E262*	2
HNRNPU	LUAD	chr1	245025941	245025941	A	G	Silent	p.I242I	1
HNRNPU	THYM	chr1	245027170	245027170	T	C	Missense_Mutation		1
HNRNPU	HNSC	chr1	245021401	245021401	A	G	Missense_Mutation	p.I450T	1
HNRNPU	KIRC	chr1	245021386	245021386	G	C	Missense_Mutation	p.T455S	1
HNRNPU	OV	chr1	243085413	243085413	C	A	Missense_Mutation	p.G763V	1
HNRNPU	BLCA	chr1	245018742	245018742	C	G	Missense_Mutation		1
HNRNPU	LIHC	chr1	245022638	245022638	T	-	Frame_Shift_Del	p.K333fs	1
HNRNPU	SKCM	chr1	245021405	245021405	G	A	Missense_Mutation	p.P449S	1
HNRNPU	BLCA	chr1	245019783	245019783	C	G	Missense_Mutation	p.E611Q	1
HNRNPU	HNSC	chr1	245018845	245018845	C	G	Missense_Mutation		1
HNRNPU	LUAD	chr1	245027132	245027132	C	T	Missense_Mutation	p.E160K	1
HNRNPU	THYM	chr1	245027262	245027262	G	T	Silent		1
HNRNPU	HNSC	chr1	245018845	245018845	C	G	Missense_Mutation	p.G726R	1
HNRNPU	BLCA	chr1	245027590	245027590	T	C	Missense_Mutation		1
HNRNPU	ESCA	chr1	245025801	245025803	TCT	-	In_Frame_Del	p.E279in_frame_del	1
HNRNPU	BLCA	chr1	245019335	245019335	C	G	Missense_Mutation	p.E661Q	1
HNRNPU	HNSC	chr1	245019248	245019248	G	A	Missense_Mutation		1
HNRNPU	CESC	chr1	245018754	245018754	C	G	Missense_Mutation		1
HNRNPU	HNSC	chr1	245021528	245021528	C	G	Missense_Mutation	p.D408H	1
HNRNPU	LUAD	chr1	245027246	245027246	C	A	Nonsense_Mutation	p.E122*	1
HNRNPU	KIRP	chr1	245018785	245018785	A	G	Missense_Mutation	p.Y746H	1
HNRNPU	BLCA	chr1	245019783	245019783	C	G	Missense_Mutation		1
HNRNPU	ESCA	chr1	245025801	245025803	TCT	-	In_Frame_Del		1
HNRNPU	LIHC	chr1	245021536	245021536	T	-	Frame_Shift_Del	p.N405fs	1
HNRNPU	BLCA	chr1	245019785	245019785	G	C	Missense_Mutation	p.P610R	1
HNRNPU	HNSC	chr1	245021350	245021350	C	T	Missense_Mutation		1
HNRNPU	CESC	chr1	245020903	245020903	C	T	Missense_Mutation	p.M537I	1
HNRNPU	HNSC	chr1	245027113	245027113	G	T	Missense_Mutation	p.P166Q	1
HNRNPU	LUAD	chr1	245027438	245027438	C	A	Missense_Mutation	p.G58C	1
HNRNPU	KIRP	chr1	245018785	245018785	A	G	Missense_Mutation		1
HNRNPU	READ	chr1	245021006	245021008	ATC	-	In_Frame_Del	p.503_503del	1
HNRNPU	BLCA	chr1	245019335	245019335	C	G	Missense_Mutation		1
HNRNPU	LIHC	chr1	245026021	245026021	T	-	Frame_Shift_Del	p.T216fs	1
HNRNPU	BLCA	chr1	245019457	245019457	T	A	Missense_Mutation	p.N620I	1
HNRNPU	HNSC	chr1	245027347	245027352	TCCTCC	-	In_Frame_Del		1
HNRNPU	CHOL	chr1	245019773	245019773	A	T	Missense_Mutation		1
HNRNPU	HNSC	chr1	245021350	245021350	C	T	Missense_Mutation	p.R467K	1
HNRNPU	HNSC	chr1	245021401	245021401	A	G	Missense_Mutation	p.I469T	1
HNRNPU	LUAD	chr1	245018903	245018903	C	T	Silent	p.G725G	1
HNRNPU	SARC	chr1	245018291	245018291	T	C	Missense_Mutation		1
HNRNPU	BLCA	chr1	245019785	245019785	G	C	Missense_Mutation		1
HNRNPU	ESCA	chr1	245018808	245018808	G	A	Missense_Mutation	p.P738L	1
HNRNPU	LIHC	chr1	245018847	245018847	C	-	Frame_Shift_Del	p.G726fs	1
HNRNPU	BLCA	chr1	245027270	245027270	C	T	Missense_Mutation	p.G114R	1
HNRNPU	HNSC	chr1	245021528	245021528	C	G	Missense_Mutation		1
HNRNPU	CHOL	chr1	245019773	245019773	A	T	Missense_Mutation	p.V633D	1
HNRNPU	HNSC	chr1	245027347	245027352	TCCTCC	-	In_Frame_Del	p.EEE92del	1
HNRNPU	HNSC	chr1	245018845	245018845	C	G	Missense_Mutation	p.G745R	1
HNRNPU	LUAD	chr1	245023749	245023749	G	C	Nonsense_Mutation	p.S302*	1
HNRNPU	LGG	chr1	245018277	245018277	C	A	Missense_Mutation	p.G789C	1
HNRNPU	BLCA	chr1	245019457	245019457	T	A	Missense_Mutation		1
HNRNPU	ESCA	chr1	245025801	245025803	TCT	-	In_Frame_Del	p.ED260del	1
HNRNPU	LUAD	chr1	245023681	245023681	C	T	Missense_Mutation	p.A306T	1
HNRNPU	BLCA	chr1	245017797	245017797	C	G	Missense_Mutation	p.W811C	1
HNRNPU	HNSC	chr1	245027113	245027113	G	T	Missense_Mutation		1
HNRNPU	CHOL	chr1	245019773	245019773	A	T	Missense_Mutation	p.V614D	1
HNRNPU	HNSC	chr1	245019776	245019776	G	A	Missense_Mutation	p.A632V	1
HNRNPU	LUSC	chr1	245020153	245020153	T	A	Silent	p.A540A	1
HNRNPU	LGG	chr1	245019449	245019449	G	T	Missense_Mutation		1
HNRNPU	BLCA	chr1	245026115	245026115	G	A	Missense_Mutation		1
HNRNPU	GBM	chr1	245022048	245022050	CAT	-	In_Frame_Del	p.D404del	1
HNRNPU	LUAD	chr1	245020932	245020932	G	A	Missense_Mutation	p.L509F	1
HNRNPU	BLCA	chr1	245018742	245018742	C	G	Missense_Mutation	p.R779T	1
HNRNPU	HNSC	chr1	245021346	245021346	T	C	Silent		1
HNRNPU	LUSC	chr1	245018908	245018908	G	A	Missense_Mutation	p.P724S	1
HNRNPU	UCEC	chr1	245023703	245023703	A	T	Silent	p.A317A	1
HNRNPU	COAD	chr1	245021469	245021469	C	T	Silent	p.P427P	1
HNRNPU	HNSC	chr1	245026026	245026026	C	G	Missense_Mutation	p.G233A	1
HNRNPU	KICH	chr1	245021520	245021520	G	A	Silent	p.G429G	1
HNRNPU	LIHC	chr1	245022659	245022659	T	C	Silent		1
HNRNPU	BLCA	chr1	245027270	245027270	C	T	Missense_Mutation		1
HNRNPU	GBM	chr1	245025769	245025769	C	G	Missense_Mutation	p.D291H	1
HNRNPU	LUAD	chr1	245022670	245022670	C	A	Nonsense_Mutation	p.E323*	1
HNRNPU	STAD	chr1	245025801	245025803	TCT	-	In_Frame_Del	p.280_280del	1
HNRNPU	BLCA	chr1	245019785	245019785	G	C	Missense_Mutation	p.P629R	1
HNRNPU	HNSC	chr1	245019248	245019248	G	A	Missense_Mutation	p.R690C	1
HNRNPU	KICH	chr1	245022136	245022136	T	C	Silent	p.E375E	1
HNRNPU	LUSC	chr1	245027496	245027496	G	C	Silent	p.L38L	1
HNRNPU	COAD	chr1	245022640	245022640	T	G	Missense_Mutation	p.K333Q	1
HNRNPU	LIHC	chr1	245020159	245020159	C	A	Splice_Site		1
HNRNPU	BLCA	chr1	245017797	245017797	C	G	Missense_Mutation	p.W792C	1
HNRNPU	HNSC	chr1	245020059	245020059	G	T	Silent		1
HNRNPU	STAD	chr1	245025801	245025803	TCT	-	In_Frame_Del	p.D280del	1
HNRNPU	HNSC	chr1	245021346	245021346	T	C	Silent	p.G468G	1
HNRNPU	KICH	chr1	245025801	245025803	TCT	-	In_Frame_Del	p.E279del	1
HNRNPU	LUSC	chr1	245027180	245027180	C	T	Missense_Mutation	p.E144K	1
HNRNPU	SKCM	chr1	245027413	245027413	G	A	Missense_Mutation	p.S66F	1
HNRNPU	BLCA	chr1	245018742	245018742	C	G	Missense_Mutation	p.R760T	1
HNRNPU	HNSC	chr1	245026026	245026026	C	G	Missense_Mutation		1
HNRNPU	HNSC	chr1	245026026	245026026	C	G	Missense_Mutation	p.G214A	1
HNRNPU	MESO	chr1	245019886	245019886	C	A	Silent		1
HNRNPU	BLCA	chr1	245017797	245017797	C	G	Missense_Mutation		1
HNRNPU	COAD	chr1	245023692	245023692	G	A	Missense_Mutation	p.A302V	1
HNRNPU	SKCM	chr1	245020054	245020054	C	T	Silent	p.K554K	1
HNRNPU	BLCA	chr1	245027590	245027590	T	C	Missense_Mutation	p.N7S	1
HNRNPU	HNSC	chr1	245021401	245021401	A	G	Missense_Mutation		1

Copy number variation (CNV) of HNRNPU
* Click on the image to open the original image in a new window.

Fusion gene breakpoints (product of the structural variants (SVs)) across HNRNPU
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Fusion genes with this translation factor from FusionGDB2.0.

FusionGDB2 ID	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
100138	STAD	TCGA-BR-A4QI-01A	ACAA1	chr3	38173417	-	HNRNPU	chr1	245020158	-
99506	N/A	AW081080	HNRNPU	chr1	245013776	+	C8orf34	chr8	69469780	+
100138	N/A	AA482733	HNRNPU	chr1	245020123	-	HNRNPU	chr1	245020947	+
100138	N/A	AA747412	HNRNPU	chr1	245017464	-	HNRNPU	chr1	245017435	+
100138	N/A	AW419283	HNRNPU	chr1	245016695	-	HNRNPU	chr1	245016757	+
100138	N/A	BE703732	HNRNPU	chr1	245023688	+	HNRNPU	chr1	245019358	+
100138	N/A	CN262461	HNRNPU	chr1	245021413	+	HNRNPU	chr1	245021015	-
94484	N/A	FN172462	HNRNPU	chr1	245017181	+	IGF2BP2	chr3	185443438	-
86406	N/A	AA367420	HNRNPU	chr1	245019348	+	LPCAT3	chr12	7086626	-
102590	STAD	TCGA-BR-A44T-01A	HNRNPU	chr1	245020900	-	MPHOSPH8	chr13	20245346	+
83045	N/A	D13413	HNRNPU	chr1	245027013	-	RPL24	chr3	101400026	-
54870	PRAD	TCGA-KK-A8I8-01A	HNRNPU	chr1	245021313	-	SLC36A4	chr11	92918980	-
102729	Non-Cancer	5263N	HNRNPU	chr1	245018274	-	SMYD3	chr1	245927451	-
97337	N/A	AF289572	HNRNPU	chr1	245014421	-	SNRNP25	chr16	104960	+
98427	N/A	BI023341	HNRNPU	chr1	245019231	+	VPS39	chr15	42479509	+
100138	LGG	TCGA-HT-7485	NUP133	chr1	229577613	-	HNRNPU	chr1	245015105	-
100138	N/A	BE939196	PCNT	chr21	47767183	+	HNRNPU	chr1	245018332	+
100138	GBM	TCGA-08-0386-01A	SMYD3	chr1	246670356	-	HNRNPU	chr1	245025836	-
100162	BRCA	TCGA-BH-A0W5-01A	YWHAE	chr17	1303341	-	HNRNPU	chr1	245026032	-

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Prognostic Analysis

Kaplan-Meier plots with logrank tests of overall survival (OS)

Cancer type

Translation factor

Coefficent

Hazard ratio

Wald test pval

Likelihool ratio pval

Logrank test pval

# samples

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Translation factor and Gender

Differential gene expression between female and male. (Wilcoxon test, pval<0.05)

Cancer type	Translation factor	pval	adj.p
SARC	HNRNPU	0.000704486018316627	0.02
READ	HNRNPU	0.00425808247923361	0.11
MESO	HNRNPU	0.00788676186829343	0.21
ESCA	HNRNPU	0.0164672695834459	0.41
KIRP	HNRNPU	0.0268239038262908	0.64
PAAD	HNRNPU	0.0312607098777738	0.72

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Translation factor and Age

Differential gene expression between young and old age groups (Wilcoxon test, pval<0.05)

Cancer type	Translation factor	pval	adj.p
LIHC	HNRNPU	6.83106799075696e-05	0.0023
ESCA	HNRNPU	0.000963045746018323	0.031
THYM	HNRNPU	0.00397989140955907	0.12
SARC	HNRNPU	0.0067642609554711	0.2

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Related Drugs

Drugs targeting genes involved in this translation factor.
(DrugBank Version 5.1.8 2021-05-08)

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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Related Diseases

Diseases associated with this translation factor.
(DisGeNet 4.0)

Disease ID	Disease Name	# PubMeds	Disease source
C0543888	Epileptic encephalopathy	2	GENOMICS_ENGLAND
C4479319	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54	2	CTD_human;GENOMICS_ENGLAND
C0014544	Epilepsy	1	CTD_human
C0086237	Epilepsy, Cryptogenic	1	CTD_human
C0751111	Awakening Epilepsy	1	CTD_human
C4304540	1q44 microdeletion syndrome	1	ORPHANET