#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_ ensembl_gene_id	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GMAF	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_dbSNP	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_n_alt_count	i_n_alt_count_full	i_n_alt_count_val	i_n_ref_count	i_n_ref_count_full	i_n_ref_count_val	i_normal_vaf	i_normal_vaf_val	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_t_alt_count_full	i_t_alt_count_val	i_t_ref_count_full	i_t_ref_count_val	i_tier	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_vaf	i_tumor_vaf_val	i_type	i_ucsc_cons	i_variant	t_alt_count	t_ref_count
PRKDC	5591	genome.wustl.edu	37	8	48866457	48866457	+	Silent	SNP	G	G	A			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr8:48866457G>A	ENST00000314191.2	-	6	587	c.531C>T	c.(529-531)ctC>ctT	p.L177L	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.L177L	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	177					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	ATAATCCTAGGAGCTCATATA	0.338								Non-homologous end-joining					ENSG00000253729																									Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													48.0	42.0	43.0					8																	48866457		1786	4050	5836	SO:0001819	synonymous_variant	0			-		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.531C>T	8.37:g.48866457G>A			P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.L177	ENST00000314191.2	37	c.531		8																																																																																			-	PRKDC	-	superfamily_ARM-type_fold		0.338	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		0	0	1	14	14	66	0.00	1.49	G	NM_001081640		48866457	-1	11	37	7	39	tier1	no_errors	ENST00000314191	ensembl	human	known	74_37	silent	61.11	48.68	SNP	0.879	A	11	7
MYH2	4620	genome.wustl.edu	37	17	10436721	10436721	+	Silent	SNP	A	A	G	rs371676280		TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr17:10436721A>G	ENST00000245503.5	-	21	2706	c.2322T>C	c.(2320-2322)ggT>ggC	p.G774G	MYH2_ENST00000397183.2_Silent_p.G774G|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000532183.2_Intron|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	774	Actin-binding. {ECO:0000250}.|Myosin motor.				Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCCCCAGAAGACCAGCTTTGA	0.478													ENSG00000125414																																					0													78.0	79.0	79.0					17																	10436721		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.2322T>C	17.37:g.10436721A>G			A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SRE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.G774	ENST00000245503.5	37	c.2322	CCDS11156.1	17																																																																																			-	MYH2	-	superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.478	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	HGNC	protein_coding	OTTHUMT00000252726.3	0	0	0	41	41	92	0.00	0.00	A	NM_017534		10436721	-1	13	20	17	16	tier1	no_errors	ENST00000245503	ensembl	human	known	74_37	silent	43.33	55.56	SNP	1.000	G	13	17
NFATC1	4772	genome.wustl.edu	37	18	77170842	77170842	+	Silent	SNP	C	C	T	rs140225213	byFrequency	TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr18:77170842C>T	ENST00000427363.2	+	2	567	c.567C>T	c.(565-567)taC>taT	p.Y189Y	NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000253506.5_Silent_p.Y189Y|NFATC1_ENST00000592223.1_Silent_p.Y176Y|NFATC1_ENST00000318065.5_Silent_p.Y176Y|NFATC1_ENST00000587635.1_Silent_p.Y189Y|NFATC1_ENST00000586434.1_Silent_p.Y176Y|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000542384.1_Silent_p.Y189Y|NFATC1_ENST00000329101.4_Silent_p.Y176Y|NFATC1_ENST00000591814.1_Silent_p.Y189Y			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	189	Trans-activation domain A (TAD-A).				calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	CCTCCTCCTACGAGTCCAACT	0.672													ENSG00000131196	C|||	2	0.000399361	0.0015	0.0	5008	,	,		15602	0.0		0.0	False		,,,				2504	0.0				GBM(151;1210 2593 28719 45011)												0								C	,,,,	14,4392	21.2+/-45.6	0,14,2189	60.0	64.0	63.0		567,528,,528,567	-4.3	0.9	18	dbSNP_134	63	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,intron,coding-synonymous,coding-synonymous	NFATC1	NM_006162.3,NM_172387.1,NM_172388.1,NM_172389.1,NM_172390.1	,,,,	0,14,6489	TT,TC,CC		0.0,0.3177,0.1076	,,,,	189/826,176/931,,176/813,189/717	77170842	14,12992	2203	4300	6503	SO:0001819	synonymous_variant	0			GMAF=0.0005	U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"""Nuclear factor of activated T-cells"""	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.567C>T	18.37:g.77170842C>T			B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Silent	SNP	pfam_RHD,pfam_IPT,superfamily_p53-like_TF_D-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT	p.Y189	ENST00000427363.2	37	c.567		18																																																																																			rs140225213	NFATC1	-	NULL		0.672	NFATC1-007	KNOWN	basic	protein_coding	NFATC1	HGNC	protein_coding	OTTHUMT00000450507.1	0	0	0	30	30	40	0.00	0.00	C	NM_172390		77170842	+1	5	2	38	16	tier1	no_errors	ENST00000427363	ensembl	human	known	74_37	silent	11.63	11.11	SNP	0.595	T	5	38
RBBP6	5930	genome.wustl.edu	37	16	24583338	24583338	+	Missense_Mutation	SNP	T	T	A			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr16:24583338T>A	ENST00000319715.4	+	18	5383	c.4951T>A	c.(4951-4953)Tct>Act	p.S1651T	RBBP6_ENST00000348022.2_Missense_Mutation_p.S1617T|RBBP6_ENST00000381039.3_Missense_Mutation_p.S811T	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1651					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AAGTAATGTTTCTGTAAAAGA	0.383													ENSG00000122257																																					0													74.0	82.0	80.0					16																	24583338		2195	4299	6494	SO:0001583	missense	0			-		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.4951T>A	16.37:g.24583338T>A	ENSP00000317872:p.Ser1651Thr		Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC	p.S1651T	ENST00000319715.4	37	c.4951	CCDS10621.1	16	.	.	.	.	.	.	.	.	.	.	T	17.13	3.309580	0.60414	.	.	ENSG00000122257	ENST00000381039;ENST00000319715;ENST00000348022	T;T;T	0.23754	1.89;2.21;2.18	5.94	5.94	0.96194	.	0.000000	0.64402	D	0.000005	T	0.39733	0.1089	L	0.29908	0.895	0.41902	D	0.990425	D;D;D	0.71674	0.998;0.998;0.997	D;D;D	0.80764	0.994;0.994;0.985	T	0.12760	-1.0535	10	0.36615	T	0.2	-18.3689	16.3951	0.83601	0.0:0.0:0.0:1.0	.	811;1617;1651	Q7Z6E9-4;Q7Z6E9-2;Q7Z6E9	.;.;RBBP6_HUMAN	T	811;1651;1617	ENSP00000370427:S811T;ENSP00000317872:S1651T;ENSP00000316291:S1617T	ENSP00000317872:S1651T	S	+	1	0	RBBP6	24490839	1.000000	0.71417	0.783000	0.31826	0.921000	0.55340	6.810000	0.75216	2.272000	0.75746	0.460000	0.39030	TCT	-	RBBP6	-	NULL		0.383	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP6	HGNC	protein_coding	OTTHUMT00000214067.2	0	0	0	18	18	53	0.00	0.00	T	NM_006910		24583338	+1	6	8	10	43	tier1	no_errors	ENST00000319715	ensembl	human	known	74_37	missense	37.50	15.69	SNP	0.998	A	6	10
KIAA1958	158405	genome.wustl.edu	37	9	115337138	115337138	+	Missense_Mutation	SNP	A	A	T			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr9:115337138A>T	ENST00000337530.6	+	2	1074	c.778A>T	c.(778-780)Atc>Ttc	p.I260F	KIAA1958_ENST00000374244.3_Missense_Mutation_p.I260F|KIAA1958_ENST00000536272.1_Missense_Mutation_p.I260F	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	260										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						CACATCTGCCATCAGCACGGA	0.537													ENSG00000165185																																					0													218.0	188.0	198.0					9																	115337138		2203	4300	6503	SO:0001583	missense	0			-	AB075838	CCDS35108.1, CCDS69642.1	9q33.1	2009-09-22			ENSG00000165185	ENSG00000165185			23427	protein-coding gene	gene with protein product							Standard	NM_001287038		Approved	FLJ39294	uc004bgf.1	Q8N8K9	OTTHUMG00000020508	ENST00000337530.6:c.778A>T	9.37:g.115337138A>T	ENSP00000336940:p.Ile260Phe		B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Missense_Mutation	SNP	pfam_DUF3504,superfamily_Integrase_Lambda-type_N	p.I260F	ENST00000337530.6	37	c.778	CCDS35108.1	9	.	.	.	.	.	.	.	.	.	.	A	12.30	1.895882	0.33442	.	.	ENSG00000165185	ENST00000337530;ENST00000374244;ENST00000536272	T;T;T	0.43294	0.95;0.95;0.95	6.07	2.53	0.30540	.	0.233195	0.35378	N	0.003241	T	0.17959	0.0431	N	0.14661	0.345	0.51233	D	0.999917	P;B	0.45902	0.868;0.244	B;B	0.34038	0.174;0.054	T	0.04708	-1.0932	10	0.17832	T	0.49	-9.9036	8.4289	0.32746	0.5871:0.3366:0.0763:0.0	.	260;260	B7ZKW6;Q8N8K9	.;K1958_HUMAN	F	260	ENSP00000336940:I260F;ENSP00000363362:I260F;ENSP00000440504:I260F	ENSP00000336940:I260F	I	+	1	0	KIAA1958	114376959	0.000000	0.05858	1.000000	0.80357	0.928000	0.56348	0.117000	0.15583	0.531000	0.28639	-0.264000	0.10439	ATC	-	KIAA1958	-	NULL		0.537	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	KIAA1958	HGNC	protein_coding	OTTHUMT00000053690.1	0	0	0	13	13	77	0.00	0.00	A	NM_133465		115337138	+1	6	18	4	18	tier1	no_errors	ENST00000536272	ensembl	human	known	74_37	missense	60.00	50.00	SNP	0.998	T	6	4
MET	4233	genome.wustl.edu	37	7	116397813	116397813	+	Missense_Mutation	SNP	C	C	T			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr7:116397813C>T	ENST00000318493.6	+	8	2274	c.2087C>T	c.(2086-2088)aCa>aTa	p.T696I	MET_ENST00000397752.3_Missense_Mutation_p.T696I|MET_ENST00000436117.2_Missense_Mutation_p.T696I			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0	Arg/Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GGTGGAAAAACATGTACTTTA	0.328			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				ENSG00000105976																												Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	0													90.0	87.0	88.0					7																	116397813		1839	4094	5933	SO:0001583	missense	0	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	-	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.2087C>T	7.37:g.116397813C>T	ENSP00000317272:p.Thr696Ile		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom	p.T696I	ENST00000318493.6	37	c.2087	CCDS47689.1	7	.	.	.	.	.	.	.	.	.	.	C	13.32	2.202333	0.38905	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	T;T;T	0.76709	-1.04;-1.04;-1.04	5.45	5.45	0.79879	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.312229	0.37955	N	0.001869	T	0.78672	0.4320	L	0.59436	1.845	0.80722	D	1	B;B;P;B;B;B;D	0.53462	0.44;0.054;0.831;0.11;0.121;0.058;0.96	B;B;P;B;B;B;P	0.52554	0.188;0.039;0.642;0.139;0.11;0.046;0.702	T	0.76493	-0.2939	10	0.34782	T	0.22	.	8.8144	0.34987	0.1506:0.7745:0.0:0.0749	.	696;696;696;696;668;696;696	B5A929;E7EQ94;B5A930;B5A934;B5A936;P08581-2;P08581	.;.;.;.;.;.;MET_HUMAN	I	696	ENSP00000380860:T696I;ENSP00000317272:T696I;ENSP00000410980:T696I	ENSP00000317272:T696I	T	+	2	0	MET	116185049	0.805000	0.28982	1.000000	0.80357	0.998000	0.95712	1.205000	0.32308	2.717000	0.92951	0.585000	0.79938	ACA	-	MET	-	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_IPT,superfamily_Ig_E-set,smart_IPT		0.328	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MET	HGNC	protein_coding	OTTHUMT00000059620.3	0	0	0	47	47	94	0.00	0.00	C			116397813	+1	9	28	27	41	tier1	no_errors	ENST00000318493	ensembl	human	known	74_37	missense	25.00	40.58	SNP	1.000	T	9	27
CYP11B2	1585	genome.wustl.edu	37	8	143994116	143994116	+	Silent	SNP	G	G	A			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr8:143994116G>A	ENST00000323110.2	-	8	1230	c.1228C>T	c.(1228-1230)Ctg>Ttg	p.L410L		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	410					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	TTGCGACCCAGCGAGTAGAGG	0.617									Familial Hyperaldosteronism type I				ENSG00000179142																																					0													95.0	92.0	93.0					8																	143994116		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	-	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.1228C>T	8.37:g.143994116G>A			B0ZBE4|Q16726	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.L410	ENST00000323110.2	37	c.1228	CCDS6393.1	8																																																																																			-	CYP11B2	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_B		0.617	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP11B2	HGNC	protein_coding	OTTHUMT00000359904.1	0	0	0	56	56	62	0.00	0.00	G			143994116	-1	12	6	66	34	tier1	no_errors	ENST00000323110	ensembl	human	known	74_37	silent	15.38	15.00	SNP	0.893	A	12	66
ZFYVE9	9372	genome.wustl.edu	37	1	52744179	52744179	+	Missense_Mutation	SNP	A	A	G			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr1:52744179A>G	ENST00000371591.1	+	8	2893	c.2762A>G	c.(2761-2763)gAg>gGg	p.E921G	ZFYVE9_ENST00000357206.2_Missense_Mutation_p.E862G|ZFYVE9_ENST00000287727.3_Missense_Mutation_p.E921G	NM_004799.2|NM_007324.2	NP_004790.2|NP_015563.2	O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	921					endocytosis (GO:0006897)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|SMAD protein complex assembly (GO:0007183)|SMAD protein import into nucleus (GO:0007184)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome (GO:0005769)|early endosome membrane (GO:0031901)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						GCTGTGGAAGAGAAACCATCA	0.363													ENSG00000157077																																					0													125.0	124.0	124.0					1																	52744179		2203	4300	6503	SO:0001583	missense	0			-	AF104304	CCDS563.1, CCDS564.1	1p32.3	2014-06-13	2004-05-21	2004-05-26	ENSG00000157077	ENSG00000157077		"""Zinc fingers, FYVE domain containing"""	6775	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 173"""	603755	"""MAD, mothers against decapentaplegic homolog (Drosophila) interacting protein, receptor activation anchor"""	MADHIP		9865696	Standard	NM_007324		Approved	SMADIP, SARA, PPP1R173	uc001cto.4	O95405	OTTHUMG00000008061	ENST00000371591.1:c.2762A>G	1.37:g.52744179A>G	ENSP00000360647:p.Glu921Gly		Q5T0F6|Q5T0F7|Q9UNE1|Q9Y5R7	Missense_Mutation	SNP	pfam_DUF3480,pfam_SARA_Smad-bd,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel	p.E921G	ENST00000371591.1	37	c.2762	CCDS563.1	1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.406401	0.83230	.	.	ENSG00000157077	ENST00000357206;ENST00000287727;ENST00000371591	T;T;T	0.50277	0.85;0.75;0.75	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.66819	0.2828	M	0.70595	2.14	0.58432	D	0.999999	D;D	0.65815	0.993;0.995	D;D	0.67103	0.938;0.949	T	0.71027	-0.4711	10	0.87932	D	0	.	15.3345	0.74241	1.0:0.0:0.0:0.0	.	862;921	O95405-2;O95405	.;ZFYV9_HUMAN	G	862;921;921	ENSP00000349737:E862G;ENSP00000287727:E921G;ENSP00000360647:E921G	ENSP00000287727:E921G	E	+	2	0	ZFYVE9	52516767	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.650000	0.91073	2.205000	0.71048	0.482000	0.46254	GAG	-	ZFYVE9	-	pirsf_Znf_FYVE_SARA/endofin		0.363	ZFYVE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE9	HGNC	protein_coding	OTTHUMT00000022083.1	0	0	0	35	35	70	0.00	0.00	A	NM_007324		52744179	+1	31	26	35	36	tier1	no_errors	ENST00000287727	ensembl	human	known	74_37	missense	46.97	41.94	SNP	1.000	G	31	35
CNR1	1268	genome.wustl.edu	37	6	88854252	88854252	+	Missense_Mutation	SNP	C	C	A			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr6:88854252C>A	ENST00000537554.1	-	2	4304	c.742G>T	c.(742-744)Gcc>Tcc	p.A248S	CNR1_ENST00000369499.2_Missense_Mutation_p.A248S|CNR1_ENST00000549716.1_Missense_Mutation_p.A187S|CNR1_ENST00000535130.1_Missense_Mutation_p.A248S|CNR1_ENST00000468898.1_Missense_Mutation_p.A215S|CNR1_ENST00000428600.2_Missense_Mutation_p.A248S|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000369501.2_Missense_Mutation_p.A248S|CNR1_ENST00000549890.1_Missense_Mutation_p.A248S	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	248					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|aging (GO:0007568)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|negative regulation of blood pressure (GO:0045776)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of fatty acid beta-oxidation (GO:0031999)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|positive regulation of acute inflammatory response to antigenic stimulus (GO:0002866)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood pressure (GO:0045777)|positive regulation of fever generation (GO:0031622)|positive regulation of neuron projection development (GO:0010976)|regulation of feeding behavior (GO:0060259)|regulation of insulin secretion (GO:0050796)|regulation of penile erection (GO:0060405)|regulation of synaptic transmission, GABAergic (GO:0032228)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|sensory perception of pain (GO:0019233)|spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)|drug binding (GO:0008144)			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Dronabinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	GGCAGCACGGCGATCACAATG	0.527													ENSG00000118432																																					0													85.0	77.0	80.0					6																	88854252		2203	4300	6503	SO:0001583	missense	0			-	AF107262	CCDS5015.1, CCDS5016.1, CCDS5016.2	6q14-q15	2012-08-08			ENSG00000118432	ENSG00000118432		"""GPCR / Class A : Cannabinoid receptors"""	2159	protein-coding gene	gene with protein product		114610		CNR			Standard	NM_016083		Approved	CB1K5, CB-R, CB1, CANN6, CB1A	uc003pmq.4	P21554	OTTHUMG00000015184	ENST00000537554.1:c.742G>T	6.37:g.88854252C>A	ENSP00000441046:p.Ala248Ser		B2R9T4|E1P512|Q13949|Q495Z0|Q4PLI4|Q4VBM6|Q5JVL5|Q5UB37|Q9UNN0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pirsf_Canbinoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_Canbinoid_rcpt_1,prints_Cnbnoid_rcpt,prints_GPCR_Rhodpsn	p.A248S	ENST00000537554.1	37	c.742	CCDS5015.1	6	.	.	.	.	.	.	.	.	.	.	C	6.915	0.538497	0.13250	.	.	ENSG00000118432	ENST00000369501;ENST00000535130;ENST00000537554;ENST00000369499;ENST00000549890;ENST00000468898;ENST00000428600;ENST00000549716	T;T;T;T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33;1.33;1.33;1.33	5.9	5.9	0.94986	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.12774	0.0310	N	0.01751	-0.74	0.80722	D	1	B;B	0.28713	0.22;0.151	B;B	0.39339	0.146;0.297	T	0.34750	-0.9816	10	0.20519	T	0.43	.	20.2861	0.98535	0.0:1.0:0.0:0.0	.	215;248	P21554-3;P21554	.;CNR1_HUMAN	S	248;248;248;248;248;215;248;187	ENSP00000358513:A248S;ENSP00000442689:A248S;ENSP00000441046:A248S;ENSP00000358511:A248S;ENSP00000446819:A248S;ENSP00000420188:A215S;ENSP00000412192:A248S;ENSP00000449549:A187S	ENSP00000358511:A248S	A	-	1	0	CNR1	88910971	1.000000	0.71417	0.339000	0.25562	0.090000	0.18270	7.818000	0.86416	2.800000	0.96347	0.655000	0.94253	GCC	-	CNR1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pirsf_Canbinoid_rcpt_1,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.527	CNR1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	CNR1	HGNC	protein_coding	OTTHUMT00000354204.2	0	0	0	8	8	101	0.00	0.00	C			88854252	-1	7	32	6	48	tier1	no_errors	ENST00000369499	ensembl	human	known	74_37	missense	53.85	40.00	SNP	1.000	A	7	6
CFAP57	149465	genome.wustl.edu	37	1	43650876	43650876	+	Missense_Mutation	SNP	C	C	T	rs368874977		TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr1:43650876C>T	ENST00000372492.4	+	5	1142	c.818C>T	c.(817-819)gCg>gTg	p.A273V	WDR65_ENST00000528956.1_Missense_Mutation_p.A273V	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN		273										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CAGATGGTGGCGGCCAGTAGC	0.478													ENSG00000243710																																					0								C	VAL/ALA,VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	116.0	116.0	116.0		818,818,818	-10.3	0.0	1		116	0,8600		0,0,4300	no	missense,missense,missense	WDR65	NM_001167965.1,NM_001167966.1,NM_152498.3	64,64,64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign,benign	273/699,273/699,273/699	43650876	1,13005	2203	4300	6503	SO:0001583	missense	0			-																												ENST00000372492.4:c.818C>T	1.37:g.43650876C>T	ENSP00000361570:p.Ala273Val		A6NKQ3|Q17RI9|Q5TAI0	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A273V	ENST00000372492.4	37	c.818		1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.975362	0.34848	2.27E-4	0.0	ENSG00000243710	ENST00000372492;ENST00000528956	T;T	0.37411	1.2;1.26	5.53	-10.3	0.00346	Quinonprotein alcohol dehydrogenase-like (1);WD40 repeat-like-containing domain (1);	2.347010	0.01159	N	0.006586	T	0.14917	0.0360	N	0.08118	0	0.09310	N	1	B;B	0.17465	0.001;0.022	B;B	0.12156	0.001;0.007	T	0.08764	-1.0706	10	0.25751	T	0.34	.	6.2819	0.21011	0.3186:0.2905:0.0:0.3909	.	273;273	Q96MR6;Q96MR6-2	WDR65_HUMAN;.	V	273	ENSP00000361570:A273V;ENSP00000435310:A273V	ENSP00000361570:A273V	A	+	2	0	WDR65	43423463	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.472000	0.06623	-1.458000	0.01916	-0.229000	0.12294	GCG	-	WDR65	-	superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom		0.478	WDR65-002	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	WDR65	HGNC	protein_coding	OTTHUMT00000384325.1	0	0	0	39	39	94	0.00	0.00	C			43650876	+1	7	19	40	80	tier1	no_errors	ENST00000528956	ensembl	human	known	74_37	missense	14.89	19.00	SNP	0.000	T	7	40
DLGAP2	9228	genome.wustl.edu	37	8	1626652	1626652	+	Missense_Mutation	SNP	A	A	C			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr8:1626652A>C	ENST00000421627.2	+	9	2455	c.2321A>C	c.(2320-2322)gAc>gCc	p.D774A	DLGAP2_ENST00000524065.1_3'UTR	NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	853					neuron-neuron synaptic transmission (GO:0007270)	cell junction (GO:0030054)|neurofilament (GO:0005883)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CCCGCCATCGACACGGTAGAG	0.602													ENSG00000198010																																					0													20.0	24.0	22.0					8																	1626652		1904	4124	6028	SO:0001583	missense	0			-	AB000275	CCDS47760.1, CCDS75689.1	8p23	2007-12-06	2001-11-28		ENSG00000198010	ENSG00000198010			2906	protein-coding gene	gene with protein product		605438	"""discs, large (Drosophila) homolog-associated protein 2"""			9286858, 10854099	Standard	NM_004745		Approved	DAP-2	uc003wpl.4	Q9P1A6	OTTHUMG00000163599	ENST00000421627.2:c.2321A>C	8.37:g.1626652A>C	ENSP00000400258:p.Asp774Ala		A1QCF8|A1QCF9|A5D8Y2|O14488|O14664|Q9P1A7	Missense_Mutation	SNP	pfam_GKAP	p.D774A	ENST00000421627.2	37	c.2321	CCDS47760.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.188|7.188	0.590935|0.590935	0.13812|0.13812	.|.	.|.	ENSG00000198010|ENSG00000198010	ENST00000356067;ENST00000421627|ENST00000520901	T|.	0.18174|.	2.23|.	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	0.556195|.	0.19455|.	N|.	0.113854|.	T|T	0.56529|0.56529	0.1991|0.1991	L|L	0.34521|0.34521	1.04|1.04	0.37174|0.37174	D|D	0.903169|0.903169	B;B|.	0.18610|.	0.01;0.029|.	B;B|.	0.24541|.	0.02;0.054|.	T|T	0.60276|0.60276	-0.7295|-0.7295	10|5	0.56958|.	D|.	0.05|.	-6.3732|-6.3732	15.2784|15.2784	0.73760|0.73760	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	839;853|.	Q9P1A6-2;Q9P1A6|.	.;DLGP2_HUMAN|.	A|P	805;774|777	ENSP00000400258:D774A|.	ENSP00000348366:D805A|.	D|T	+|+	2|1	0|0	DLGAP2|DLGAP2	1614059|1614059	1.000000|1.000000	0.71417|0.71417	0.046000|0.046000	0.18839|0.18839	0.011000|0.011000	0.07611|0.07611	3.546000|3.546000	0.53656|0.53656	2.003000|2.003000	0.58678|0.58678	0.528000|0.528000	0.53228|0.53228	GAC|ACA	-	DLGAP2	-	pfam_GKAP		0.602	DLGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP2	HGNC	protein_coding	OTTHUMT00000374478.1	0	0	0	54	54	31	0.00	0.00	A	NM_004745		1626652	+1	11	5	46	22	tier1	no_errors	ENST00000421627	ensembl	human	known	74_37	missense	19.30	18.52	SNP	0.880	C	11	46
PCNXL2	80003	genome.wustl.edu	37	1	233121872	233121872	+	Missense_Mutation	SNP	C	C	T			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr1:233121872C>T	ENST00000258229.9	-	33	6440	c.6206G>A	c.(6205-6207)gGc>gAc	p.G2069D	PCNXL2_ENST00000344698.2_Missense_Mutation_p.G721D	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	2069						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GGCTGAGGGGCCCATCACGAT	0.657													ENSG00000135749																																					0													12.0	15.0	14.0					1																	233121872		2049	4162	6211	SO:0001583	missense	0			-	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.6206G>A	1.37:g.233121872C>T	ENSP00000258229:p.Gly2069Asp		O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	pfam_Pecanex,superfamily_Trypsin-like_Pept_dom	p.G2069D	ENST00000258229.9	37	c.6206	CCDS44335.1	1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.767591	0.90020	.	.	ENSG00000135749	ENST00000344698;ENST00000258229	T;T	0.24723	1.84;2.84	5.71	5.71	0.89125	.	0.127041	0.53938	D	0.000057	T	0.51787	0.1695	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.984	T	0.40776	-0.9545	10	0.42905	T	0.14	.	19.855	0.96755	0.0:1.0:0.0:0.0	.	2069;721	A6NKB5;A6NKB5-3	PCX2_HUMAN;.	D	721;2069	ENSP00000340759:G721D;ENSP00000258229:G2069D	ENSP00000258229:G2069D	G	-	2	0	PCNXL2	231188495	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	7.429000	0.80309	2.691000	0.91804	0.561000	0.74099	GGC	-	PCNXL2	-	NULL		0.657	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL2	HGNC	protein_coding	OTTHUMT00000092480.3	0	0	0	35	35	38	0.00	0.00	C	NM_014801		233121872	-1	10	5	25	26	tier1	no_errors	ENST00000258229	ensembl	human	known	74_37	missense	28.57	16.13	SNP	1.000	T	10	25
RBFOX1	54715	genome.wustl.edu	37	16	7568226	7568226	+	Missense_Mutation	SNP	C	C	A	rs542828240		TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr16:7568226C>A	ENST00000550418.1	+	5	1093	c.105C>A	c.(103-105)aaC>aaA	p.N35K	RBFOX1_ENST00000422070.4_Missense_Mutation_p.N78K|RBFOX1_ENST00000535565.2_Missense_Mutation_p.N71K|RBFOX1_ENST00000340209.4_Missense_Mutation_p.N40K|RBFOX1_ENST00000553186.1_Missense_Mutation_p.N35K|RBFOX1_ENST00000355637.4_Missense_Mutation_p.N55K|RBFOX1_ENST00000547338.1_Missense_Mutation_p.N35K|RBFOX1_ENST00000547372.1_Missense_Mutation_p.N78K|RBFOX1_ENST00000436368.2_Missense_Mutation_p.N55K|RBFOX1_ENST00000552089.1_Missense_Mutation_p.N71K|RBFOX1_ENST00000311745.5_Missense_Mutation_p.N55K	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	35					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						CCCCGCAGAACGGTATCCCCG	0.597													ENSG00000078328																									Ovarian(157;934 2567 15163 39509)												0													127.0	127.0	127.0					16																	7568226		2197	4300	6497	SO:0001583	missense	0			-	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.105C>A	16.37:g.7568226C>A	ENSP00000450031:p.Asn35Lys		Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_R-bd_Fox-1,pfscan_RRM_dom	p.N78K	ENST00000550418.1	37	c.234	CCDS55983.1	16	.	.	.	.	.	.	.	.	.	.	C	17.93	3.508913	0.64410	.	.	ENSG00000078328	ENST00000547605;ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000535565;ENST00000552089;ENST00000551752;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	T;T;T;T;T;T;T;T;T;T;T	0.34072	1.82;1.4;1.81;1.7;1.69;1.78;1.4;1.52;1.69;1.66;1.38	4.85	1.37	0.22104	.	0.112694	0.56097	D	0.000024	T	0.51991	0.1707	M	0.68952	2.095	0.49299	D	0.999779	D;D;D;D;D;D;D;D;D	0.89917	0.997;0.999;1.0;1.0;0.999;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.921;0.952;0.996;0.998;0.982;0.994;1.0;0.999;1.0	T	0.50440	-0.8828	10	0.72032	D	0.01	-10.6494	8.0799	0.30739	0.0:0.5778:0.0:0.4222	.	55;71;78;55;55;55;35;35;78	F8WAC5;F5H0M1;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5;Q9NWB1-3;Q9NWB1;F8VZG9	.;.;.;.;.;.;.;RFOX1_HUMAN;.	K	35;35;35;78;78;71;71;35;35;55;55;55;55;40	ENSP00000450402:N35K;ENSP00000450031:N35K;ENSP00000447753:N35K;ENSP00000446842:N78K;ENSP00000391269:N78K;ENSP00000447281:N35K;ENSP00000447717:N35K;ENSP00000402745:N55K;ENSP00000309117:N55K;ENSP00000347855:N55K;ENSP00000344196:N40K	ENSP00000309117:N55K	N	+	3	2	RBFOX1	7508227	0.994000	0.37717	1.000000	0.80357	0.923000	0.55619	0.261000	0.18442	0.443000	0.26582	-0.262000	0.10625	AAC	-	RBFOX1	-	pirsf_R-bd_Fox-1		0.597	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	RBFOX1	HGNC	protein_coding	OTTHUMT00000409492.2	0	0	0	33	33	45	0.00	0.00	C	NM_145891		7568226	+1	10	9	8	35	tier1	no_errors	ENST00000547372	ensembl	human	known	74_37	missense	55.56	20.45	SNP	1.000	A	10	8
PCDHB1	29930	genome.wustl.edu	37	5	140433279	140433279	+	Missense_Mutation	SNP	C	C	A			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr5:140433279C>A	ENST00000306549.3	+	1	2301	c.2224C>A	c.(2224-2226)Caa>Aaa	p.Q742K		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	742					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAACCTGGTACAAGGACAAGG	0.368													ENSG00000171815																																					0													111.0	108.0	109.0					5																	140433279		2203	4300	6503	SO:0001583	missense	0			-	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.2224C>A	5.37:g.140433279C>A	ENSP00000307234:p.Gln742Lys		Q2M257	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q742K	ENST00000306549.3	37	c.2224	CCDS4243.1	5	.	.	.	.	.	.	.	.	.	.	C	11.40	1.626580	0.28978	.	.	ENSG00000171815	ENST00000306549	T	0.47177	0.85	5.34	4.42	0.53409	.	0.438335	0.16950	N	0.192927	T	0.31420	0.0796	N	0.14661	0.345	0.09310	N	1	B	0.17038	0.02	B	0.16722	0.016	T	0.21211	-1.0252	10	0.87932	D	0	.	10.7937	0.46449	0.0:0.7914:0.1335:0.0751	.	742	Q9Y5F3	PCDB1_HUMAN	K	742	ENSP00000307234:Q742K	ENSP00000307234:Q742K	Q	+	1	0	PCDHB1	140413463	0.976000	0.34144	0.995000	0.50966	0.242000	0.25591	3.038000	0.49783	2.664000	0.90586	0.655000	0.94253	CAA	-	PCDHB1	-	NULL		0.368	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB1	HGNC	protein_coding	OTTHUMT00000251822.2	0	0	0	26	26	48	0.00	0.00	C	NM_013340		140433279	+1	11	25	9	27	tier1	no_errors	ENST00000306549	ensembl	human	known	74_37	missense	55.00	48.08	SNP	0.056	A	11	9
TP53	7157	genome.wustl.edu	37	17	7577505	7577505	+	Missense_Mutation	SNP	T	T	A			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr17:7577505T>A	ENST00000269305.4	-	7	965	c.776A>T	c.(775-777)gAc>gTc	p.D259V	TP53_ENST00000359597.4_Missense_Mutation_p.D259V|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.D259V|TP53_ENST00000413465.2_Missense_Mutation_p.D259V|TP53_ENST00000420246.2_Missense_Mutation_p.D259V|TP53_ENST00000445888.2_Missense_Mutation_p.D259V	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	259	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		D -> A (in a sporadic cancer; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in sporadic cancers; somatic mutation).|D -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> S (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.D259V(18)|p.0?(8)|p.D259G(4)|p.D259F(3)|p.D259fs*5(2)|p.?(1)|p.E258fs*85(1)|p.E258fs*71(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.D259S(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGACCTGGAGTCTTCCAGTGT	0.587		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			ENSG00000141510																									Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	41	Substitution - Missense(26)|Whole gene deletion(8)|Deletion - Frameshift(3)|Insertion - Frameshift(2)|Deletion - In frame(1)|Unknown(1)	lung(8)|upper_aerodigestive_tract(5)|bone(4)|large_intestine(3)|stomach(3)|central_nervous_system(3)|ovary(3)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|oesophagus(2)|liver(2)|skin(2)|pancreas(1)|breast(1)											134.0	95.0	108.0					17																	7577505		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	-	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.776A>T	17.37:g.7577505T>A	ENSP00000269305:p.Asp259Val		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_D-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_D-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.D259V	ENST00000269305.4	37	c.776	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	14.78	2.636906	0.47049	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99793	-6.77;-6.77;-6.77;-6.77;-6.77;-6.77;-6.77	4.52	4.52	0.55395	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.164918	0.53938	D	0.000053	D	0.99557	0.9841	M	0.82630	2.6	0.80722	D	1	P;P;P;P;P	0.52842	0.482;0.483;0.537;0.815;0.956	P;B;P;P;P	0.57244	0.692;0.401;0.63;0.795;0.816	D	0.98404	1.0569	10	0.62326	D	0.03	-22.926	7.6416	0.28296	0.1888:0.0:0.0:0.8112	.	259;259;259;259;259	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	V	259;259;259;259;259;259;248;127	ENSP00000410739:D259V;ENSP00000352610:D259V;ENSP00000269305:D259V;ENSP00000398846:D259V;ENSP00000391127:D259V;ENSP00000391478:D259V;ENSP00000425104:D127V	ENSP00000269305:D259V	D	-	2	0	TP53	7518230	1.000000	0.71417	1.000000	0.80357	0.329000	0.28539	2.616000	0.46376	2.036000	0.60181	0.379000	0.24179	GAC	-	TP53	-	pfam_p53_D-bd,superfamily_p53-like_TF_D-bd		0.587	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	0	0	0	35	35	95	0.00	0.00	T	NM_000546		7577505	-1	22	38	9	10	tier1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	70.97	79.17	SNP	1.000	A	22	9
NRF1	4899	genome.wustl.edu	37	7	129311328	129311328	+	Missense_Mutation	SNP	C	C	T			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr7:129311328C>T	ENST00000393232.1	+	3	400	c.283C>T	c.(283-285)Cat>Tat	p.H95Y	NRF1_ENST00000353868.4_Missense_Mutation_p.H95Y|NRF1_ENST00000311967.2_Missense_Mutation_p.H95Y|NRF1_ENST00000393230.2_Missense_Mutation_p.H95Y|NRF1_ENST00000223190.4_Missense_Mutation_p.H95Y|NRF1_ENST00000539636.1_Intron|NRF1_ENST00000393231.3_Missense_Mutation_p.H95Y	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	95					cellular lipid metabolic process (GO:0044255)|generation of precursor metabolites and energy (GO:0006091)|mitochondrion organization (GO:0007005)|organ regeneration (GO:0031100)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to folic acid (GO:0051593)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						GAAACGGCCTCATGTATTTGA	0.473													ENSG00000106459																																					0													117.0	102.0	107.0					7																	129311328		2203	4300	6503	SO:0001583	missense	0			-	L22454	CCDS5813.2	7q32	2008-07-18			ENSG00000106459	ENSG00000106459			7996	protein-coding gene	gene with protein product	"""alpha palindromic-binding protein"""	600879				2584221	Standard	NM_005011		Approved	EWG, ALPHA-PAL	uc003voz.3	Q16656	OTTHUMG00000143736	ENST00000393232.1:c.283C>T	7.37:g.129311328C>T	ENSP00000376924:p.His95Tyr		A8K4C6|B4DDV6|Q15305|Q96AN2	Missense_Mutation	SNP	pfam_Nrf1_NLS/D-bd_dimer,pfam_Nrf1_activation-bd	p.H95Y	ENST00000393232.1	37	c.283	CCDS5813.2	7	.	.	.	.	.	.	.	.	.	.	C	32	5.150290	0.94645	.	.	ENSG00000106459	ENST00000393232;ENST00000353868;ENST00000454688;ENST00000223190;ENST00000311967;ENST00000393230;ENST00000393231	.	.	.	5.29	5.29	0.74685	Nuclear respiratory factor 1, NLS/DNA-binding, dimerisation domain (1);	0.045710	0.85682	D	0.000000	T	0.73016	0.3533	L	0.58302	1.8	0.80722	D	1	P;P	0.49635	0.926;0.843	P;P	0.56563	0.801;0.615	T	0.74386	-0.3682	9	0.54805	T	0.06	-8.0148	17.9646	0.89096	0.0:1.0:0.0:0.0	.	95;95	Q96AN2;Q16656	.;NRF1_HUMAN	Y	95	.	ENSP00000223190:H95Y	H	+	1	0	NRF1	129098564	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.252000	0.78309	2.482000	0.83794	0.585000	0.79938	CAT	-	NRF1	-	pfam_Nrf1_NLS/D-bd_dimer		0.473	NRF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	NRF1	HGNC	protein_coding	OTTHUMT00000289813.1	0	0	0	31	31	112	0.00	0.00	C	NM_001040110		129311328	+1	5	13	26	35	tier1	no_errors	ENST00000393231	ensembl	human	known	74_37	missense	16.13	27.08	SNP	1.000	T	5	26
PARVB	29780	genome.wustl.edu	37	22	44543775	44543775	+	Silent	SNP	C	C	T			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr22:44543775C>T	ENST00000338758.7	+	9	810	c.747C>T	c.(745-747)gcC>gcT	p.A249A	PARVB_ENST00000404989.1_Silent_p.A212A|PARVB_ENST00000406477.3_Silent_p.A282A	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	249					actin cytoskeleton reorganization (GO:0031532)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell projection assembly (GO:0030031)|establishment or maintenance of cell polarity regulating cell shape (GO:0071963)|lamellipodium assembly (GO:0030032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				TCGACCACGCCCCGGATAAGC	0.577													ENSG00000188677																																					0													88.0	71.0	77.0					22																	44543775		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF151814	CCDS14056.1, CCDS46724.1, CCDS58808.1, CCDS74874.1	22q13.2-q13.33	2013-01-24			ENSG00000188677	ENSG00000188677		"""Parvins"""	14653	protein-coding gene	gene with protein product	"""affixin"""	608121				10810093, 11171322	Standard	NM_001003828		Approved	CGI-56	uc003ben.3	Q9HBI1	OTTHUMG00000150665	ENST00000338758.7:c.747C>T	22.37:g.44543775C>T			B0QYM8|B0QYN1|B2R9X6|Q5TGJ5|Q86X93|Q96PN1|Q9NSP7|Q9UGT3|Q9Y368|Q9Y3L6|Q9Y3L7	Silent	SNP	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.A282	ENST00000338758.7	37	c.846	CCDS14056.1	22																																																																																			-	PARVB	-	superfamily_CH-domain		0.577	PARVB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PARVB	HGNC	protein_coding	OTTHUMT00000319518.2	0	0	0	22	22	74	0.00	0.00	C	NM_001003828		44543775	+1	7	11	18	49	tier1	no_errors	ENST00000406477	ensembl	human	known	74_37	silent	28.00	18.33	SNP	1.000	T	7	18
ELAVL3	1995	genome.wustl.edu	37	19	11569017	11569017	+	Missense_Mutation	SNP	G	G	A	rs148057857		TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr19:11569017G>A	ENST00000359227.3	-	5	996	c.572C>T	c.(571-573)cCg>cTg	p.P191L	ELAVL3_ENST00000438662.2_Missense_Mutation_p.P191L	NM_001420.3|NM_032281.2	NP_001411.2|NP_115657.2	Q14576	ELAV3_HUMAN	ELAV like neuron-specific RNA binding protein 3	191	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)		AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						TGCGCCCAGCGGCTTCTGCCC	0.612													ENSG00000196361																																					0								G	LEU/PRO,LEU/PRO	0,4406		0,0,2203	80.0	70.0	73.0		572,572	3.9	0.8	19	dbSNP_134	73	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ELAVL3	NM_001420.3,NM_032281.2	98,98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	191/368,191/361	11569017	1,13005	2203	4300	6503	SO:0001583	missense	0			-		CCDS32912.1, CCDS45978.1	19p13.2	2013-10-03	2013-10-03			ENSG00000196361		"""RNA binding motif (RRM) containing"""	3314	protein-coding gene	gene with protein product	"""Hu antigen C"", ""paraneoplastic limbic encephalitis antigen 21"", ""paraneoplastic cerebellar degeneration-associated antigen"", ""ELAV-like protein 3"""	603458	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 3 (Hu antigen C)"""			9799595	Standard	NM_001420		Approved	HUC, PLE21, DKFZp547J036, HUCL, MGC20653	uc002mry.1	Q14576		ENST00000359227.3:c.572C>T	19.37:g.11569017G>A	ENSP00000352162:p.Pro191Leu		Q16135|Q96CL8|Q96QS9	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_R,tigrfam_ELAD_HUD_SF	p.P191L	ENST00000359227.3	37	c.572	CCDS32912.1	19	.	.	.	.	.	.	.	.	.	.	G	23.5	4.421508	0.83559	0.0	1.16E-4	ENSG00000196361	ENST00000359227;ENST00000438662	T;T	0.07444	3.75;3.19	4.96	3.92	0.45320	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.053537	0.85682	N	0.000000	T	0.01558	0.0050	N	0.00079	-2.23	0.80722	D	1	D;D	0.57571	0.98;0.976	B;B	0.35312	0.19;0.2	T	0.59690	-0.7407	10	0.56958	D	0.05	.	12.3811	0.55307	0.0845:0.0:0.9155:0.0	.	191;191	Q14576;Q14576-2	ELAV3_HUMAN;.	L	191	ENSP00000352162:P191L;ENSP00000390878:P191L	ENSP00000352162:P191L	P	-	2	0	ELAVL3	11430017	1.000000	0.71417	0.788000	0.31933	0.810000	0.45777	9.404000	0.97306	1.091000	0.41335	0.491000	0.48974	CCG	rs148057857	ELAVL3	-	smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_R,tigrfam_ELAD_HUD_SF		0.612	ELAVL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ELAVL3	HGNC	protein_coding	OTTHUMT00000458827.2	0	0	0	35	35	53	0.00	0.00	G	NM_001420		11569017	-1	6	6	29	34	tier1	no_errors	ENST00000359227	ensembl	human	known	74_37	missense	17.14	15.00	SNP	0.998	A	6	29
CHL1	10752	genome.wustl.edu	37	3	424203	424203	+	Missense_Mutation	SNP	G	G	T			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr3:424203G>T	ENST00000256509.2	+	18	2667	c.2025G>T	c.(2023-2025)tgG>tgT	p.W675C	CHL1-AS1_ENST00000417612.1_RNA|CHL1_ENST00000397491.2_Missense_Mutation_p.W659C	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CTGGAAGGTGGGAGGAACTGA	0.398													ENSG00000134121																																					0													96.0	111.0	105.0					3																	424203		2203	4300	6503	SO:0001583	missense	0			-	AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.2025G>T	3.37:g.424203G>T	ENSP00000256509:p.Trp675Cys		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.W675C	ENST00000256509.2	37	c.2025	CCDS2556.1	3	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835885	0.71373	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.58940	0.3;0.3	4.86	4.86	0.63082	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.85923	0.5810	H	0.98594	4.275	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.91871	0.5507	10	0.87932	D	0	.	18.3442	0.90315	0.0:0.0:1.0:0.0	.	659;659;675	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	C	675;659	ENSP00000256509:W675C;ENSP00000380628:W659C	ENSP00000256509:W675C	W	+	3	0	CHL1	399203	1.000000	0.71417	0.997000	0.53966	0.818000	0.46254	9.067000	0.93955	2.396000	0.81511	0.591000	0.81541	TGG	-	CHL1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.398	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHL1	HGNC	protein_coding	OTTHUMT00000207155.2	0	0	0	41	41	111	0.00	0.00	G	NM_006614		424203	+1	10	9	39	44	tier1	no_errors	ENST00000256509	ensembl	human	known	74_37	missense	20.41	16.98	SNP	1.000	T	10	39
FGB	2244	genome.wustl.edu	37	4	155489556	155489556	+	Missense_Mutation	SNP	G	G	A			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr4:155489556G>A	ENST00000302068.4	+	5	805	c.742G>A	c.(742-744)Gga>Aga	p.G248R	FGB_ENST00000509493.1_Missense_Mutation_p.G29R|FGB_ENST00000502545.1_3'UTR	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	248	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|cellular response to interleukin-1 (GO:0071347)|cellular response to leptin stimulus (GO:0044320)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	chaperone binding (GO:0051087)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TATCAGGAAAGGAGGTGAAAC	0.338													ENSG00000171564																									NSCLC(106;1133 1613 21870 46110 52656)												0													133.0	132.0	132.0					4																	155489556		2203	4300	6503	SO:0001583	missense	0			-		CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3662	protein-coding gene	gene with protein product		134830	"""fibrinogen, B beta polypeptide"""				Standard	NM_005141		Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000302068.4:c.742G>A	4.37:g.155489556G>A	ENSP00000306099:p.Gly248Arg		A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C_dom,pfam_Fibrinogen_a/b/g_coil_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom	p.G248R	ENST00000302068.4	37	c.742	CCDS3786.1	4	.	.	.	.	.	.	.	.	.	.	G	32	5.184031	0.94885	.	.	ENSG00000171564	ENST00000302068;ENST00000537843;ENST00000509493	T;T	0.80738	-1.41;-1.41	5.74	5.74	0.90152	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.000000	0.85682	D	0.000000	D	0.91036	0.7180	M	0.86178	2.8	0.80722	D	1	D;D	0.76494	0.999;0.971	D;P	0.70487	0.969;0.838	D	0.91750	0.5411	10	0.87932	D	0	.	19.9139	0.97034	0.0:0.0:1.0:0.0	.	231;248	B4E1D3;P02675	.;FIBB_HUMAN	R	248;231;29	ENSP00000306099:G248R;ENSP00000426757:G29R	ENSP00000306099:G248R	G	+	1	0	FGB	155709006	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	7.946000	0.87746	2.704000	0.92352	0.491000	0.48974	GGA	-	FGB	-	pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom		0.338	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGB	HGNC	protein_coding	OTTHUMT00000317595.1	0	0	0	32	32	62	0.00	0.00	G	NM_005141		155489556	+1	11	28	12	53	tier1	no_errors	ENST00000302068	ensembl	human	known	74_37	missense	47.83	34.57	SNP	1.000	A	11	12
CNTN6	27255	genome.wustl.edu	37	3	1371493	1371493	+	Missense_Mutation	SNP	G	G	C			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr3:1371493G>C	ENST00000446702.2	+	11	1865	c.1238G>C	c.(1237-1239)aGt>aCt	p.S413T	CNTN6_ENST00000350110.2_Missense_Mutation_p.S413T|CNTN6_ENST00000539053.1_Missense_Mutation_p.S341T			Q9UQ52	CNTN6_HUMAN	contactin 6	413	Ig-like C2-type 5.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TTCTCCAAAAGTCCAGTTAAA	0.388													ENSG00000134115																																					0													82.0	85.0	84.0					3																	1371493		2203	4297	6500	SO:0001583	missense	0			-	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.1238G>C	3.37:g.1371493G>C	ENSP00000407822:p.Ser413Thr		Q2KHM2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S413T	ENST00000446702.2	37	c.1238	CCDS2557.1	3	.	.	.	.	.	.	.	.	.	.	G	7.290	0.610781	0.14066	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.66815	-0.23;-0.23;-0.23	5.71	2.0	0.26442	Immunoglobulin I-set (1);Immunoglobulin-like (1);	0.095788	0.45361	D	0.000368	T	0.36110	0.0955	N	0.02854	-0.475	0.25704	N	0.985556	B	0.24675	0.109	B	0.30105	0.111	T	0.23976	-1.0173	10	0.19147	T	0.46	.	5.3194	0.15874	0.6961:0.149:0.155:0.0	.	413	Q9UQ52	CNTN6_HUMAN	T	413;341;413	ENSP00000407822:S413T;ENSP00000442791:S341T;ENSP00000341882:S413T	ENSP00000341882:S413T	S	+	2	0	CNTN6	1346493	0.002000	0.14202	0.958000	0.39756	0.450000	0.32258	0.059000	0.14322	0.100000	0.17581	-0.471000	0.05019	AGT	-	CNTN6	-	pfam_Ig_I-set,pfscan_Ig-like_dom		0.388	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN6	HGNC	protein_coding	OTTHUMT00000239235.2	0	0	0	45	45	105	0.00	0.00	G	NM_014461		1371493	+1	7	17	53	83	tier1	no_errors	ENST00000350110	ensembl	human	known	74_37	missense	11.48	17.00	SNP	0.958	C	7	53
AP3D1	8943	genome.wustl.edu	37	19	2115549	2115549	+	Missense_Mutation	SNP	A	A	T			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr19:2115549A>T	ENST00000345016.5	-	19	2368	c.2137T>A	c.(2137-2139)Ttg>Atg	p.L713M	AP3D1_ENST00000355272.6_Missense_Mutation_p.L713M|AP3D1_ENST00000356926.4_Missense_Mutation_p.L622M|AP3D1_ENST00000350812.6_Missense_Mutation_p.L544M	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	713					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAACCTTCAAGGGGACGGAG	0.662													ENSG00000065000																																					0													65.0	78.0	74.0					19																	2115549		2093	4211	6304	SO:0001583	missense	0			-	U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.2137T>A	19.37:g.2115549A>T	ENSP00000344055:p.Leu713Met		O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Missense_Mutation	SNP	pfam_BLV_receptor,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu	p.L713M	ENST00000345016.5	37	c.2137	CCDS42459.1	19	.	.	.	.	.	.	.	.	.	.	A	12.56	1.974435	0.34848	.	.	ENSG00000065000	ENST00000356926;ENST00000345016;ENST00000355272;ENST00000343722;ENST00000350812	T;T;T;T	0.63744	1.64;-0.06;1.42;-0.06	4.67	-3.25	0.05079	.	0.000000	0.64402	D	0.000001	T	0.77418	0.4127	M	0.89287	3.02	0.42068	D	0.991192	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.78099	-0.2336	10	0.72032	D	0.01	-19.4064	11.2528	0.49037	0.7467:0.0:0.2533:0.0	.	713;713;622	O14617-5;O14617;G5E988	.;AP3D1_HUMAN;.	M	622;713;713;713;544	ENSP00000349398:L622M;ENSP00000344055:L713M;ENSP00000347416:L713M;ENSP00000342321:L544M	ENSP00000341579:L713M	L	-	1	2	AP3D1	2066549	0.056000	0.20664	0.002000	0.10522	0.064000	0.16182	0.394000	0.20834	-0.640000	0.05495	-0.464000	0.05259	TTG	-	AP3D1	-	pfam_BLV_receptor,pirsf_AP3_complex_dsu		0.662	AP3D1-002	KNOWN	basic|CCDS	protein_coding	AP3D1	HGNC	protein_coding	OTTHUMT00000450912.1	0	0	0	32	32	34	0.00	0.00	A			2115549	-1	12	6	21	24	tier1	no_errors	ENST00000355272	ensembl	human	known	74_37	missense	36.36	20.00	SNP	0.254	T	12	21
GIMAP8	155038	genome.wustl.edu	37	7	150174802	150174802	+	Missense_Mutation	SNP	T	T	G			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr7:150174802T>G	ENST00000307271.3	+	5	2506	c.1932T>G	c.(1930-1932)atT>atG	p.I644M		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	644						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GCAAACTAATTAAAAATGTCC	0.408													ENSG00000171115																																					0													56.0	63.0	61.0					7																	150174802		2198	4297	6495	SO:0001583	missense	0			-	AL834361	CCDS34777.1	7q36.1	2014-04-04			ENSG00000171115	ENSG00000171115		"""GTPases, IMAP"""	21792	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 9"""					15474311	Standard	XM_005249951		Approved	DKFZp667I133, hIAN6, IAN9	uc003whj.3	Q8ND71	OTTHUMG00000158327	ENST00000307271.3:c.1932T>G	7.37:g.150174802T>G	ENSP00000305107:p.Ile644Met			Missense_Mutation	SNP	pfam_AIG1,superfamily_P-loop_NTPase	p.I644M	ENST00000307271.3	37	c.1932	CCDS34777.1	7	.	.	.	.	.	.	.	.	.	.	T	1.877	-0.458731	0.04508	.	.	ENSG00000171115	ENST00000307271	T	0.07021	3.23	4.31	-8.63	0.00878	AIG1 (1);	2.679310	0.02165	N	0.059204	T	0.02807	0.0084	N	0.04880	-0.145	0.09310	N	1	B	0.10296	0.003	B	0.13407	0.009	T	0.39542	-0.9609	10	0.19590	T	0.45	.	0.073	0.00024	0.2687:0.2312:0.2132:0.2869	.	644	Q8ND71	GIMA8_HUMAN	M	644	ENSP00000305107:I644M	ENSP00000305107:I644M	I	+	3	3	GIMAP8	149805735	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.494000	0.02296	-2.472000	0.00529	-2.020000	0.00432	ATT	-	GIMAP8	-	pfam_AIG1		0.408	GIMAP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIMAP8	HGNC	protein_coding	OTTHUMT00000350701.1	0	0	1	56	56	151	0.00	0.66	T	NM_175571		150174802	+1	17	24	37	70	tier1	no_errors	ENST00000307271	ensembl	human	known	74_37	missense	30.91	25.53	SNP	0.000	G	17	37
KLKB1	3818	genome.wustl.edu	37	4	187171526	187171526	+	Missense_Mutation	SNP	A	A	T			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr4:187171526A>T	ENST00000264690.6	+	7	915	c.728A>T	c.(727-729)tAt>tTt	p.Y243F	KLKB1_ENST00000513864.1_Missense_Mutation_p.Y243F	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	243	Apple 3. {ECO:0000255|PROSITE- ProRule:PRU00315}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)|proteolysis (GO:0006508)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		TTTACATTCTATACAAATGTA	0.468													ENSG00000164344																																					0													157.0	139.0	145.0					4																	187171526		2203	4300	6503	SO:0001583	missense	0			-	M13143	CCDS34120.1	4q35	2008-02-05			ENSG00000164344	ENSG00000164344		"""Kallikreins"""	6371	protein-coding gene	gene with protein product		229000		KLK3		9535413, 3521732	Standard	XM_005262987		Approved		uc003iyy.3	P03952	OTTHUMG00000150347	ENST00000264690.6:c.728A>T	4.37:g.187171526A>T	ENSP00000264690:p.Tyr243Phe		A6NH96|B2R8H9|Q17RE8|Q17RE9|Q4W5C3	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,smart_Apple,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Peptidase_S1,prints_Apple,prints_Peptidase_S1A	p.Y243F	ENST00000264690.6	37	c.728	CCDS34120.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	2.458|2.458	-0.324741|-0.324741	0.05350|0.05350	.|.	.|.	ENSG00000164344|ENSG00000164344	ENST00000511608|ENST00000264690;ENST00000513864;ENST00000418715	.|D;D	.|0.88818	.|-2.43;-2.43	5.06|5.06	5.06|5.06	0.68205|0.68205	.|Apple domain (3);PAN-1 domain (1);Apple-like (1);	.|0.101496	.|0.42964	.|D	.|0.000625	D|D	0.85553|0.85553	0.5723|0.5723	N|N	0.25201|0.25201	0.72|0.72	0.27508|0.27508	N|N	0.951761|0.951761	.|D;P	.|0.57571	.|0.98;0.944	.|P;P	.|0.59357	.|0.856;0.652	T|T	0.75311|0.75311	-0.3362|-0.3362	5|10	.|0.02654	.|T	.|1	.|.	10.9114|10.9114	0.47110|0.47110	0.851:0.0:0.0:0.149|0.851:0.0:0.0:0.149	.|.	.|205;243	.|E7EQA8;P03952	.|.;KLKB1_HUMAN	L|F	291|243;243;205	.|ENSP00000264690:Y243F;ENSP00000424469:Y243F	.|ENSP00000264690:Y243F	I|Y	+|+	1|2	0|0	KLKB1|KLKB1	187408520|187408520	0.967000|0.967000	0.33354|0.33354	0.725000|0.725000	0.30721|0.30721	0.013000|0.013000	0.08279|0.08279	2.917000|2.917000	0.48821|0.48821	2.127000|2.127000	0.65507|0.65507	0.449000|0.449000	0.29647|0.29647	ATA|TAT	-	KLKB1	-	pfam_PAN-1_domain,smart_Apple,pfscan_Pan_app,prints_Apple		0.468	KLKB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLKB1	HGNC	protein_coding	OTTHUMT00000317732.1	0	0	0	48	48	84	0.00	0.00	A	NM_000892		187171526	+1	10	39	37	53	tier1	no_errors	ENST00000264690	ensembl	human	known	74_37	missense	21.28	42.39	SNP	0.929	T	10	37
UNC93A	54346	genome.wustl.edu	37	6	167728838	167728838	+	Silent	SNP	G	G	T	rs148062483	byFrequency	TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr6:167728838G>T	ENST00000230256.3	+	8	1447	c.1272G>T	c.(1270-1272)gcG>gcT	p.A424A	UNC93A_ENST00000366829.2_Silent_p.A382A	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	424						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A424A(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CCATGGTGGCGTATGGGCTTG	0.547													ENSG00000112494																																					1	Substitution - coding silent(1)	large_intestine(1)											212.0	234.0	227.0					6																	167728838		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"""unc93 (C.elegans) homolog A"""			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.1272G>T	6.37:g.167728838G>T			B3KRP5|Q4QQJ4|Q5JZD6	Silent	SNP	pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt	p.A424	ENST00000230256.3	37	c.1272	CCDS5300.1	6																																																																																			-	UNC93A	-	superfamily_MFS_dom_general_subst_transpt		0.547	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC93A	HGNC	protein_coding	OTTHUMT00000043125.2	0	0	1	79	79	144	0.00	0.68	G	NM_018974		167728838	+1	22	38	77	91	tier1	no_errors	ENST00000230256	ensembl	human	known	74_37	silent	22.22	29.46	SNP	0.000	T	22	77
MACF1	23499	genome.wustl.edu	37	1	39798401	39798401	+	Silent	SNP	G	G	A			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr1:39798401G>A	ENST00000372915.3	+	36	6243	c.6156G>A	c.(6154-6156)caG>caA	p.Q2052Q	MACF1_ENST00000539005.1_Intron|MACF1_ENST00000564288.1_Silent_p.Q2047Q|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Silent_p.Q487Q|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Silent_p.Q2084Q|MACF1_ENST00000476350.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2052					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTTCTTCTCAGAACAAAGAAT	0.438													ENSG00000127603																																					0													70.0	73.0	72.0					1																	39798401		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.6156G>A	1.37:g.39798401G>A			B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_RNaseH-like_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.Q2084	ENST00000372915.3	37	c.6252		1																																																																																			-	MACF1	-	superfamily_RNaseH-like_dom		0.438	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	0	0	0	13	13	74	0.00	0.00	G	NM_033044		39798401	+1	6	50	5	18	tier1	no_errors	ENST00000567887	ensembl	human	putative	74_37	silent	54.55	73.53	SNP	0.003	A	6	5
ZAN	7455	genome.wustl.edu	37	7	100344302	100344302	+	RNA	SNP	T	T	C			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr7:100344302T>C	ENST00000348028.3	+	0	1073				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GGTGCAGCCCTCCACATTTAT	0.562													ENSG00000146839																																					0													132.0	135.0	134.0					7																	100344302		1938	4149	6087			0			-	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100344302T>C			A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.L303P	ENST00000348028.3	37	c.908		7	.	.	.	.	.	.	.	.	.	.	T	18.34	3.601550	0.66445	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.08370	3.1;3.1;3.1	4.88	4.88	0.63580	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.210314	0.24126	N	0.041305	T	0.34716	0.0907	M	0.90870	3.155	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.79108	0.986;0.992	T	0.33085	-0.9882	10	0.87932	D	0	.	11.4571	0.50189	0.0:0.0:0.0:1.0	.	303;303	F5H0T8;Q9Y493	.;ZAN_HUMAN	P	303	ENSP00000445943:L303P;ENSP00000445091:L303P;ENSP00000444427:L303P	ENSP00000423579:L303P	L	+	2	0	ZAN	100182238	0.074000	0.21230	0.026000	0.17262	0.257000	0.26127	3.487000	0.53222	2.130000	0.65690	0.528000	0.53228	CTC	-	ZAN	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom		0.562	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	HGNC	polymorphic_pseudogene	OTTHUMT00000347214.1	0	0	0	33	33	92	0.00	0.00	T	NM_003386		100344302	+1	16	22	9	24	tier1	no_errors	ENST00000546292	ensembl	human	known	74_37	missense	64.00	47.83	SNP	0.089	C	16	9
TSHZ3	57616	genome.wustl.edu	37	19	31769390	31769390	+	Silent	SNP	G	G	A			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr19:31769390G>A	ENST00000240587.4	-	2	1636	c.1309C>T	c.(1309-1311)Ctg>Ttg	p.L437L		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	437					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TCATCCAGCAGGGTTGTGATG	0.557													ENSG00000121297																																					0													112.0	108.0	109.0					19																	31769390		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1309C>T	19.37:g.31769390G>A			Q9H0G6|Q9P254	Silent	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.L437	ENST00000240587.4	37	c.1309	CCDS12421.2	19																																																																																			-	TSHZ3	-	NULL		0.557	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSHZ3	HGNC	protein_coding	OTTHUMT00000316743.2	0	0	0	40	40	69	0.00	0.00	G	NM_020856		31769390	-1	10	20	24	32	tier1	no_errors	ENST00000240587	ensembl	human	known	74_37	silent	29.41	37.74	SNP	0.954	A	10	24
WDHD1	11169	genome.wustl.edu	37	14	55480246	55480246	+	Missense_Mutation	SNP	T	T	A			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr14:55480246T>A	ENST00000360586.3	-	3	211	c.146A>T	c.(145-147)aAg>aTg	p.K49M	WDHD1_ENST00000421192.1_De_novo_Start_InFrame|WDHD1_ENST00000420358.2_De_novo_Start_InFrame	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	49					heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						ATTAATGAACTTAGGATCATC	0.338													ENSG00000198554																																					0													169.0	144.0	153.0					14																	55480246		2203	4300	6503	SO:0001583	missense	0			-	AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"""WD repeat domain containing"""	23170	protein-coding gene	gene with protein product	"""CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"""	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.146A>T	14.37:g.55480246T>A	ENSP00000353793:p.Lys49Met		C9JW18|F6W0U7	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_DUF3639,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,superfamily_HMG_box_dom,smart_WD40_repeat,smart_HMG_box_dom,pfscan_HMG_box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K49M	ENST00000360586.3	37	c.146	CCDS9721.1	14	.	.	.	.	.	.	.	.	.	.	T	21.6	4.176622	0.78564	.	.	ENSG00000198554	ENST00000360586;ENST00000455555	T;D	0.81499	4.9;-1.5	5.84	5.84	0.93424	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.88618	0.6485	M	0.70595	2.14	0.80722	D	1	D	0.76494	0.999	D	0.69479	0.964	D	0.89193	0.3552	10	0.56958	D	0.05	.	16.2129	0.82178	0.0:0.0:0.0:1.0	.	49	O75717	WDHD1_HUMAN	M	49	ENSP00000353793:K49M;ENSP00000413435:K49M	ENSP00000353793:K49M	K	-	2	0	WDHD1	54549996	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	4.600000	0.61083	2.220000	0.72140	0.482000	0.46254	AAG	-	WDHD1	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom		0.338	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDHD1	HGNC	protein_coding	OTTHUMT00000276897.2	0	0	0	29	29	92	0.00	0.00	T	NM_007086		55480246	-1	7	31	9	44	tier1	no_errors	ENST00000360586	ensembl	human	known	74_37	missense	43.75	41.33	SNP	1.000	A	7	9
ATP10B	23120	genome.wustl.edu	37	5	159992826	159992826	+	Missense_Mutation	SNP	G	G	T			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr5:159992826G>T	ENST00000327245.5	-	26	4866	c.4020C>A	c.(4018-4020)gaC>gaA	p.D1340E		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1340					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGTTTCTTTTGTCTGGGGGGA	0.488													ENSG00000118322																																					0													116.0	118.0	117.0					5																	159992826		1815	4081	5896	SO:0001583	missense	0			-	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.4020C>A	5.37:g.159992826G>T	ENSP00000313600:p.Asp1340Glu		Q9H725	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.D1340E	ENST00000327245.5	37	c.4020	CCDS43394.1	5	.	.	.	.	.	.	.	.	.	.	G	1.690	-0.504322	0.04261	.	.	ENSG00000118322	ENST00000327245	T	0.39406	1.08	5.65	1.48	0.22813	.	0.334767	0.29246	N	0.012711	T	0.18383	0.0441	N	0.11724	0.165	0.27240	N	0.959174	B	0.09022	0.002	B	0.04013	0.001	T	0.10823	-1.0613	9	.	.	.	.	4.076	0.09904	0.3171:0.1887:0.4943:0.0	.	1340	O94823	AT10B_HUMAN	E	1340	ENSP00000313600:D1340E	.	D	-	3	2	ATP10B	159925404	0.995000	0.38212	0.963000	0.40424	0.640000	0.38277	0.108000	0.15396	0.687000	0.31509	-0.365000	0.07479	GAC	-	ATP10B	-	NULL		0.488	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10B	HGNC	protein_coding	OTTHUMT00000374127.1	0	0	0	22	22	83	0.00	0.00	G	NM_025153		159992826	-1	17	36	12	17	tier1	no_errors	ENST00000327245	ensembl	human	known	74_37	missense	58.62	67.92	SNP	0.921	T	17	12
PIAS1	8554	genome.wustl.edu	37	15	68468089	68468089	+	Frame_Shift_Del	DEL	T	T	-			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr15:68468089delT	ENST00000249636.6	+	10	1432	c.1284delT	c.(1282-1284)tctfs	p.S428fs	PIAS1_ENST00000545237.1_Frame_Shift_Del_p.S430fs	NM_016166.1	NP_057250.1	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	428					androgen receptor signaling pathway (GO:0030521)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|protein-DNA complex assembly (GO:0065004)|regulation of cell proliferation (GO:0042127)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						TTTCTGCCTCTTACAATGGAG	0.388													ENSG00000033800																																					0													78.0	78.0	78.0					15																	68468089		1873	4105	5978	SO:0001589	frameshift_variant	0				AF077951	CCDS45290.1	15q	2011-10-11	2002-04-19	2002-04-19		ENSG00000033800		"""Zinc fingers, MIZ-type"""	2752	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 3"""	603566	"""DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1"""	DDXBP1		9724754, 9177271	Standard	XM_005254735		Approved	GBP, GU/RH-II, ZMIZ3	uc002aqz.3	O75925		ENST00000249636.6:c.1284delT	15.37:g.68468089delT	ENSP00000249636:p.Ser428fs		B2RB67|B3KSY9|C5J4B4|Q147X4|Q99751|Q9UN02	Frame_Shift_Del	DEL	pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom	p.Y429fs	ENST00000249636.6	37	c.1284	CCDS45290.1	15																																																																																				PIAS1	-	NULL		0.388	PIAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIAS1	HGNC	protein_coding	OTTHUMT00000419642.2	0	0	0	39	39	110	0.00	0.00	T			68468089	+1	11	24	23	60	tier1	no_errors	ENST00000249636	ensembl	human	known	74_37	frame_shift_del	32.35	28.57	DEL	0.985	-	11	23
DLC1	10395	genome.wustl.edu	37	8	12943086	12943087	+	3'UTR	DEL	TT	TT	-	rs60094700		TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	TT	TT	TT	-	TT	TT	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr8:12943086_12943087delTT	ENST00000276297.4	-	0	5229_5230				DLC1_ENST00000512044.2_3'UTR|DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000358919.2_3'UTR	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein						actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TACACataaatttttttttttt	0.297													ENSG00000164741																																					0																																										SO:0001624	3_prime_UTR_variant	0				AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.*234AA>-	8.37:g.12943096_12943097delTT			B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	R	DEL	-	NULL	ENST00000276297.4	37	NULL	CCDS5989.1	8																																																																																				DLC1	-	-		0.297	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLC1	HGNC	protein_coding	OTTHUMT00000207632.2	0	0	0	23	23	11	0.00	0.00	TT	NM_182643, NM_006094		12943087	-1	3	2	23	18	tier1	no_errors	ENST00000510318	ensembl	human	known	74_37	rna	11.54	10.00	DEL	0.000:0.000	-	3	23
COL23A1	91522	genome.wustl.edu	37	5	177683352	177683352	+	Splice_Site	SNP	A	A	T			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr5:177683352A>T	ENST00000390654.3	-	15	1240		c.e15+1		COL23A1_ENST00000407622.1_Splice_Site	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1						collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		GCGGCAGCTTACCCGGGGCCC	0.647													ENSG00000050767																																					0													19.0	23.0	22.0					5																	177683352		1959	4137	6096	SO:0001630	splice_region_variant	0			-	AL137461	CCDS4436.1	5q35.3	2013-01-16			ENSG00000050767	ENSG00000050767		"""Collagens"""	22990	protein-coding gene	gene with protein product		610043				12644459	Standard	NM_173465		Approved	DKFZp434K0621	uc021yiz.1	Q86Y22	OTTHUMG00000130890	ENST00000390654.3:c.882+1T>A	5.37:g.177683352A>T			Q8IVR4|Q9NT93	Splice_Site	SNP	-	e15+2	ENST00000390654.3	37	c.882+2	CCDS4436.1	5	.	.	.	.	.	.	.	.	.	.	A	14.89	2.671375	0.47781	.	.	ENSG00000050767	ENST00000390654;ENST00000407622	.	.	.	4.42	4.42	0.53409	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2259	0.43225	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	COL23A1	177615958	1.000000	0.71417	1.000000	0.80357	0.474000	0.32979	2.577000	0.46042	1.998000	0.58463	0.459000	0.35465	.	-	COL23A1	-	-		0.647	COL23A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL23A1	HGNC	protein_coding	OTTHUMT00000253475.1	0	0	0	48	48	19	0.00	0.00	A	NM_173465	Intron	177683352	-1	26	2	57	7	tier1	no_errors	ENST00000390654	ensembl	human	known	74_37	splice_site	31.33	22.22	SNP	1.000	T	26	57
IL2RB	3560	genome.wustl.edu	37	22	37524543	37524543	+	Missense_Mutation	SNP	C	C	T			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr22:37524543C>T	ENST00000216223.5	-	10	1447	c.1249G>A	c.(1249-1251)Gcc>Acc	p.A417T		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	417					cytokine-mediated signaling pathway (GO:0019221)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of apoptotic process (GO:0043066)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-2 binding (GO:0019976)|interleukin-2 receptor activity (GO:0004911)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GTGCAGTAGGCGTCGTCCTCC	0.677													ENSG00000100385																																					0													28.0	29.0	28.0					22																	37524543		2203	4300	6503	SO:0001583	missense	0			-	M26062	CCDS13942.1	22q13	2011-02-15			ENSG00000100385	ENSG00000100385		"""Interleukins and interleukin receptors"", ""CD molecules"""	6009	protein-coding gene	gene with protein product		146710	"""interleukin 15 receptor, beta"""	IL15RB			Standard	NM_000878		Approved	CD122	uc003aqv.1	P14784	OTTHUMG00000150534	ENST00000216223.5:c.1249G>A	22.37:g.37524543C>T	ENSP00000216223:p.Ala417Thr		B2R765	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.A417T	ENST00000216223.5	37	c.1249	CCDS13942.1	22	.	.	.	.	.	.	.	.	.	.	c	10.54	1.380029	0.24944	.	.	ENSG00000100385	ENST00000216223	T	0.08984	3.03	4.83	2.42	0.29668	.	0.431311	0.18721	N	0.133014	T	0.10208	0.0250	L	0.57536	1.79	0.09310	N	1	D	0.62365	0.991	P	0.47134	0.539	T	0.17868	-1.0355	10	0.16896	T	0.51	-12.971	7.5487	0.27783	0.2061:0.7034:0.0:0.0905	.	417	P14784	IL2RB_HUMAN	T	417	ENSP00000216223:A417T	ENSP00000216223:A417T	A	-	1	0	IL2RB	35854489	0.064000	0.20934	0.379000	0.26080	0.125000	0.20455	0.301000	0.19174	1.149000	0.42402	-0.119000	0.15052	GCC	-	IL2RB	-	NULL		0.677	IL2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL2RB	HGNC	protein_coding	OTTHUMT00000318792.1	0	0	0	29	29	16	0.00	0.00	C			37524543	-1	9	6	11	9	tier1	no_errors	ENST00000216223	ensembl	human	known	74_37	missense	45.00	40.00	SNP	0.086	T	9	11
PIGG	54872	genome.wustl.edu	37	4	493032	493032	+	5'UTR	SNP	G	G	A	rs563346830	byFrequency	TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr4:493032G>A	ENST00000453061.2	+	0	14				ZNF721_ENST00000511833.2_5'Flank|PIGG_ENST00000502311.1_3'UTR|PIGG_ENST00000509768.1_5'Flank|PIGG_ENST00000503111.1_5'UTR|PIGG_ENST00000296306.7_5'UTR|PIGG_ENST00000383028.4_5'Flank|ZNF721_ENST00000338977.5_5'Flank|PIGG_ENST00000536264.1_5'UTR|PIGG_ENST00000504346.1_5'UTR|PIGG_ENST00000310340.5_5'UTR	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G						C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CP2 mannose-ethanolamine phosphotransferase activity (GO:0051267)|phosphotransferase activity, for other substituted phosphate groups (GO:0016780)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	39						TGGCGTTATTGCTTAGAGGCG	0.697													ENSG00000174227	G|||	4	0.000798722	0.0	0.0014	5008	,	,		13613	0.0		0.003	False		,,,				2504	0.0																0																																										SO:0001623	5_prime_UTR_variant	0			-		CCDS3336.1, CCDS46992.1, CCDS75080.1, CCDS75081.1, CCDS75082.1, CCDS75083.1	4p16.3	2013-02-26	2006-06-28		ENSG00000174227	ENSG00000174227		"""Phosphatidylinositol glycan anchor biosynthesis"""	25985	protein-coding gene	gene with protein product			"""phosphatidylinositol glycan, class G"""			15632136	Standard	XM_005272287		Approved	FLJ20265, GPI7, LAS21	uc003gak.4	Q5H8A4	OTTHUMG00000112457	ENST00000453061.2:c.-93G>A	4.37:g.493032G>A			B4DKC7|Q2TAK5|Q6UX31|Q7L5Y4|Q8N866|Q8NCC9|Q96SY9|Q9BVT7|Q9NXG5	R	SNP	-	NULL	ENST00000453061.2	37	NULL	CCDS46992.1	4																																																																																			-	PIGG	-	-		0.697	PIGG-001	KNOWN	basic|CCDS	protein_coding	PIGG	HGNC	protein_coding	OTTHUMT00000357494.1	0	0	0	15	15	16	0.00	0.00	G	NM_017733		493032	+1	12	3	12	6	tier1	no_errors	ENST00000502311	ensembl	human	known	74_37	rna	50.00	33.33	SNP	0.000	A	12	12
C1orf198	84886	genome.wustl.edu	37	1	231004075	231004075	+	Missense_Mutation	SNP	G	G	A			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr1:231004075G>A	ENST00000366663.5	-	1	324	c.184C>T	c.(184-186)Ccg>Tcg	p.P62S	C1orf198_ENST00000427697.2_Intron|C1orf198_ENST00000470540.1_Missense_Mutation_p.P24S	NM_032800.2	NP_116189.1	Q9H425	CA198_HUMAN	chromosome 1 open reading frame 198	62						cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TGCGCGGGCGGCAGCCGCGCC	0.701													ENSG00000119280																																					0													18.0	22.0	21.0					1																	231004075		2196	4298	6494	SO:0001583	missense	0			-	BC066649	CCDS1587.1, CCDS44330.1, CCDS44331.1	1q42.2	2008-02-05			ENSG00000119280	ENSG00000119280			25900	protein-coding gene	gene with protein product							Standard	NM_032800		Approved	FLJ14525, MGC10710, FLJ16283, DKFZp667D152, FLJ38847	uc001hub.3	Q9H425	OTTHUMG00000037790	ENST00000366663.5:c.184C>T	1.37:g.231004075G>A	ENSP00000355623:p.Pro62Ser		A8K8R8|B3KTW1|G5EA08	Missense_Mutation	SNP	NULL	p.P62S	ENST00000366663.5	37	c.184	CCDS1587.1	1	.	.	.	.	.	.	.	.	.	.	g	13.27	2.187749	0.38609	.	.	ENSG00000119280	ENST00000366663;ENST00000470540;ENST00000522201	T;T	0.27402	1.69;1.67	3.83	2.9	0.33743	.	0.369054	0.24725	U	0.036108	T	0.18341	0.0440	N	0.17474	0.49	0.80722	D	1	B	0.28713	0.22	B	0.33196	0.159	T	0.03000	-1.1084	10	0.07644	T	0.81	.	12.935	0.58309	0.0:0.1649:0.8351:0.0	.	62	Q9H425	CA198_HUMAN	S	62;24;19	ENSP00000355623:P62S;ENSP00000428172:P24S	ENSP00000355623:P62S	P	-	1	0	C1orf198	229070698	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.570000	0.53834	0.774000	0.33427	0.457000	0.33378	CCG	-	C1orf198	-	NULL		0.701	C1orf198-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C1orf198	HGNC	protein_coding	OTTHUMT00000092236.2	0	0	0	35	35	12	0.00	0.00	G	NM_032800		231004075	-1	4	0	26	4	tier1	no_errors	ENST00000366663	ensembl	human	known	74_37	missense	13.33	0.00	SNP	1.000	A	4	26
CHPF	79586	genome.wustl.edu	37	2	220404162	220404162	+	Silent	SNP	G	G	T			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr2:220404162G>T	ENST00000243776.6	-	4	2519	c.2271C>A	c.(2269-2271)ggC>ggA	p.G757G	CHPF_ENST00000535926.1_Silent_p.G595G	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	757					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGGTTCGGGAGCCGAGGCCCT	0.687													ENSG00000123989																																					0													41.0	36.0	38.0					2																	220404162		2203	4299	6502	SO:0001819	synonymous_variant	0			-	BC008878	CCDS2443.1, CCDS56169.1	2q35	2014-02-12			ENSG00000123989	ENSG00000123989	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24291	protein-coding gene	gene with protein product	"""chondroitin sulfate synthase 2"""	610405				11230166, 12716890	Standard	NM_024536		Approved	CSS2, CHSY2	uc002vmc.4	Q8IZ52	OTTHUMG00000058929	ENST00000243776.6:c.2271C>A	2.37:g.220404162G>T			B4DXU0|Q6UXD6|Q7L4G1|Q9H0F8|Q9H618	Silent	SNP	pfam_Chond_Galc	p.G757	ENST00000243776.6	37	c.2271	CCDS2443.1	2																																																																																			-	CHPF	-	pfam_Chond_Galc		0.687	CHPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHPF	HGNC	protein_coding	OTTHUMT00000130268.1	0	0	0	62	62	41	0.00	0.00	G	NM_024536		220404162	-1	4	0	33	6	tier1	no_errors	ENST00000243776	ensembl	human	known	74_37	silent	10.81	0.00	SNP	1.000	T	4	33
EDF1	8721	genome.wustl.edu	37	9	139760677	139760677	+	Silent	SNP	G	G	A			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr9:139760677G>A	ENST00000224073.1	-	1	61	c.34C>T	c.(34-36)Ctg>Ttg	p.L12L	EDF1_ENST00000371648.4_Silent_p.L12L|EDF1_ENST00000371649.1_Silent_p.L12L	NM_003792.2	NP_003783.1	O60869	EDF1_HUMAN	endothelial differentiation-related factor 1	12					endothelial cell differentiation (GO:0045446)|multicellular organismal development (GO:0007275)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			lung(1)	1	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		TTCTTGCGCAGCACCGTCACC	0.736													ENSG00000107223																																					0													34.0	33.0	34.0					9																	139760677		2200	4297	6497	SO:0001819	synonymous_variant	0			-	AJ005259	CCDS7011.1, CCDS7012.1, CCDS65193.1	9q34.3	2009-11-06			ENSG00000107223	ENSG00000107223			3164	protein-coding gene	gene with protein product	"""multiprotein bridging factor-1"""	605107				9813014, 15112053	Standard	NM_003792		Approved	EDF-1	uc004cjt.1	O60869	OTTHUMG00000020948	ENST00000224073.1:c.34C>T	9.37:g.139760677G>A			Q5T5T2|Q9UIM1	Silent	SNP	pfam_MBF1_N,pfam_Cro/C1-type_HTH,superfamily_Lambda_D-bd_dom,smart_Cro/C1-type_HTH,pfscan_Cro/C1-type_HTH	p.L12	ENST00000224073.1	37	c.34	CCDS7011.1	9																																																																																			-	EDF1	-	pfam_MBF1_N		0.736	EDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDF1	HGNC	protein_coding	OTTHUMT00000055143.1	0	0	0	54	54	8	0.00	0.00	G			139760677	-1	17	0	18	3	tier1	no_errors	ENST00000224073	ensembl	human	known	74_37	silent	48.57	0.00	SNP	1.000	A	17	18
HERC2P4	100289574	genome.wustl.edu	37	16	32163469	32163469	+	IGR	SNP	G	G	A			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr16:32163469G>A								RP11-1166P10.6 (67363 upstream) : HERC2P4 (17835 downstream)																							AATGTGACACGTCCGCATGTC	0.512													ENSG00000230267																																					0																																										SO:0001628	intergenic_variant	0			-																													16.37:g.32163469G>A				R	SNP	-	NULL		37	NULL		16																																																																																			-	HERC2P4	-	-	0	0.512					HERC2P4	HGNC			0	0	0	98	98	9	0.00	0.00	G			32163469	-1	10	0	52	2	tier1	no_errors	ENST00000563904	ensembl	human	known	74_37	rna	16.13	0.00	SNP	0.986	A	10	52
INPP5D	3635	genome.wustl.edu	37	2	234106746	234106746	+	Missense_Mutation	SNP	C	C	T			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr2:234106746C>T	ENST00000359570.5	+	27	2663	c.2663C>T	c.(2662-2664)cCt>cTt	p.P888L	INPP5D_ENST00000450745.1_Missense_Mutation_p.P652L|INPP5D_ENST00000455936.2_Missense_Mutation_p.P652L			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	900					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TGCAGGGCCCCTCCGTGCAGT	0.597													ENSG00000168918																									NSCLC(82;1215 1426 16163 20348 41018)												0													16.0	18.0	17.0					2																	234106746		2003	4159	6162	SO:0001583	missense	0			-	U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.2663C>T	2.37:g.234106746C>T	ENSP00000352575:p.Pro888Leu		O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_SH2,superfamily_Endo/exonuclease/phosphatase,smart_SH2,smart_IPPc,pfscan_SH2,prints_SH2	p.P888L	ENST00000359570.5	37	c.2663		2	.	.	.	.	.	.	.	.	.	.	C	9.854	1.194341	0.22037	.	.	ENSG00000168918	ENST00000359570;ENST00000450745;ENST00000455936;ENST00000435188;ENST00000415617;ENST00000445964;ENST00000417661	D;D;D;D;D;D	0.96365	-3.94;-3.99;-3.99;-3.99;-3.99;-3.99	5.02	3.1	0.35709	.	0.266379	0.37178	N	0.002207	D	0.90858	0.7128	.	.	.	0.20703	N	0.999864	P;P	0.41848	0.763;0.651	B;B	0.31101	0.124;0.086	D	0.85268	0.1054	9	0.52906	T	0.07	.	8.2606	0.31781	0.1527:0.7637:0.0:0.0836	.	899;900	Q92835-2;Q92835	.;SHIP1_HUMAN	L	888;652;652;521;521;521;22	ENSP00000352575:P888L;ENSP00000407916:P652L;ENSP00000404610:P652L;ENSP00000400151:P521L;ENSP00000397421:P521L;ENSP00000405338:P521L	ENSP00000352575:P888L	P	+	2	0	INPP5D	233771485	0.001000	0.12720	0.526000	0.27913	0.261000	0.26267	0.606000	0.24194	1.232000	0.43678	0.655000	0.94253	CCT	-	INPP5D	-	NULL		0.597	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	INPP5D	HGNC	protein_coding		0	0	0	43	43	30	0.00	0.00	C	NM_001017915		234106746	+1	4	0	16	6	tier1	no_errors	ENST00000359570	ensembl	human	known	74_37	missense	19.05	0.00	SNP	0.193	T	4	16
WDR81	124997	genome.wustl.edu	37	17	1631292	1631292	+	Silent	SNP	G	G	A			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr17:1631292G>A	ENST00000409644.1	+	1	3039	c.3039G>A	c.(3037-3039)gcG>gcA	p.A1013A	RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000437219.2_Intron|WDR81_ENST00000545662.1_5'Flank|WDR81_ENST00000419248.1_Intron|WDR81_ENST00000309182.5_5'UTR|WDR81_ENST00000446363.1_Intron	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1013					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AGGTGCTGGCGGGCGCAGAGG	0.672													ENSG00000167716																																					0													8.0	10.0	10.0					17																	1631292		688	1581	2269	SO:0001819	synonymous_variant	0			-	AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.3039G>A	17.37:g.1631292G>A			B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Silent	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A1013	ENST00000409644.1	37	c.3039	CCDS54062.1	17																																																																																			-	WDR81	-	NULL		0.672	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR81	HGNC	protein_coding	OTTHUMT00000333118.2	0	0	0	25	25	9	0.00	0.00	G	NM_152348		1631292	+1	6	0	6	1	tier1	no_errors	ENST00000409644	ensembl	human	known	74_37	silent	50.00	0.00	SNP	0.912	A	6	6
PLET1	349633	genome.wustl.edu	37	11	112118610	112118619	+	IGR	DEL	ACACACACAC	ACACACACAC	-	rs201398125|rs79699298|rs202146857|rs146953253		TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	ACACACACAC	ACACACACAC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr11:112118610_112118619delACACACACAC	ENST00000338832.2	-	0	1541				AP002884.1_ENST00000401135.1_RNA	NM_001145024.1	NP_001138496.1	Q6UQ28	PLET1_HUMAN							cell differentiation (GO:0030154)|negative regulation of cell-matrix adhesion (GO:0001953)|positive regulation of cell migration (GO:0030335)|wound healing, spreading of epidermal cells (GO:0035313)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)				endometrium(2)	2						atgtatatATacacacacacacacacacac	0.352													ENSG00000215954																																					0																																										SO:0001628	intergenic_variant	0																																11.37:g.112118620_112118629delACACACACAC			Q6UQ24|Q6UQ25|Q6UQ27	R	DEL	-	NULL	ENST00000338832.2	37	NULL		11																																																																																				AP002884.1	-	-		0.352	C11orf34-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000215954	Clone_based_ensembl_gene	protein_coding		0	0	0	0	0	0	0.00	0.00	ACACACACAC			112118619	+1	0	0	0	0	tier1	no_errors	ENST00000401135	ensembl	human	novel	74_37	rna	0.00	0.00	DEL	0.028:0.021:0.024:0.025:0.042:0.052:0.057:0.059:0.067:0.070	-	0	0
KRT8P47	644743	genome.wustl.edu	37	1	44569973	44569974	+	lincRNA	INS	-	-	TCTCCTGGCCCAGAGTCTCCAGCTGCCGCCGCT			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr1:44569973_44569974insTCTCCTGGCCCAGAGTCTCCAGCTGCCGCCGCT	ENST00000434244.1	+	0	1970_1971																											CAGCTTCAGCTTCTCCTGGCCC	0.554													ENSG00000230615																																					0																																												0																																1.37:g.44569973_44569974insTCTCCTGGCCCAGAGTCTCCAGCTGCCGCCGCT				R	INS	-	NULL	ENST00000434244.1	37	NULL		1																																																																																				RP5-1198O20.4	-	-		0.554	RP5-1198O20.4-001	KNOWN	basic	lincRNA	ENSG00000230615	Clone_based_vega_gene	lincRNA	OTTHUMT00000022875.2	0	0	0	0	0	0	0.00	0.00	-			44569974	+1	0	0	4	4	tier1	no_errors	ENST00000434244	ensembl	human	known	74_37	rna	0.00	0.00	INS	1.000:1.000	TCTCCTGGCCCAGAGTCTCCAGCTGCCGCCGCT	0	4
FOXK1	221937	genome.wustl.edu	37	7	4722449	4722449	+	Silent	SNP	G	G	T			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr7:4722449G>T	ENST00000328914.4	+	1	510	c.510G>T	c.(508-510)gtG>gtT	p.V170V	FOXK1_ENST00000446823.1_Intron	NM_001037165.1	NP_001032242.1			forkhead box K1											breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		GCGTCTTCGTGGACGGGGCCT	0.726													ENSG00000164916																																					0													11.0	11.0	11.0					7																	4722449		2195	4295	6490	SO:0001819	synonymous_variant	0			-	BK004104	CCDS34591.1	7p22	2006-12-15			ENSG00000164916	ENSG00000164916		"""Forkhead boxes"""	23480	protein-coding gene	gene with protein product						15202027	Standard	NM_001037165		Approved	IMAGE:5164497	uc003snc.1	P85037	OTTHUMG00000151739	ENST00000328914.4:c.510G>T	7.37:g.4722449G>T				Silent	SNP	pfam_TF_fork_head,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_TF_fork_head,pfscan_FHA_dom,pfscan_TF_fork_head,prints_TF_fork_head	p.V170	ENST00000328914.4	37	c.510	CCDS34591.1	7																																																																																			-	FOXK1	-	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom		0.726	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXK1	HGNC	protein_coding	OTTHUMT00000323729.2	0	0	0	21	21	3	0.00	0.00	G			4722449	+1	10	0	10	4	tier1	no_errors	ENST00000328914	ensembl	human	known	74_37	silent	50.00	0.00	SNP	1.000	T	10	10
IRF2BPL	64207	genome.wustl.edu	37	14	77493792	77493794	+	In_Frame_Del	DEL	TGT	TGT	-	rs377151545|rs28718623|rs71125518	byFrequency	TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	TGT	TGT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr14:77493792_77493794delTGT	ENST00000238647.3	-	1	1240_1242	c.342_344delACA	c.(340-345)caacag>cag	p.114_115QQ>Q		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	114	Poly-Gln.				development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						ctgctgctgctgttgctgctgct	0.7													ENSG00000119669																																					0										1119,1147		390,339,404						-1.3	0.0			2	2585,1523		1057,471,526	no	coding	IRF2BPL	NM_024496.2		1447,810,930	A1A1,A1R,RR		37.074,49.3822,41.8889				3704,2670				SO:0001651	inframe_deletion	0				AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"""enhanced at puberty 1"""	611720	"""chromosome 14 open reading frame 4"""	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.342_344delACA	14.37:g.77493792_77493794delTGT	ENSP00000238647:p.Gln127del		Q8NDQ2|Q96JG2|Q9H3I7	In_Frame_Del	DEL	pfam_Interferon_reg_fac2-bd1_2_Znf	p.Q118in_frame_del	ENST00000238647.3	37	c.344_342	CCDS9854.1	14																																																																																				IRF2BPL	-	pfam_Interferon_reg_fac2-bd1_2_Znf		0.700	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF2BPL	HGNC	protein_coding	OTTHUMT00000414298.1	0	0	0	8	8	0	0.00	0.00	TGT	NM_024496		77493794	-1	5	0	7	0	tier1	no_errors	ENST00000238647	ensembl	human	known	74_37	in_frame_del	41.67	0.00	DEL	0.050:0.052:0.060	-	5	7
MAML3	55534	genome.wustl.edu	37	4	140811111	140811111	+	Silent	SNP	C	C	T	rs62344937		TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr4:140811111C>T	ENST00000509479.2	-	2	2335	c.1479G>A	c.(1477-1479)caG>caA	p.Q493Q	MAML3_ENST00000398940.1_Silent_p.Q32Q|MAML3_ENST00000327122.5_Silent_p.Q337Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542													ENSG00000196782																																					0													15.0	19.0	17.0					4																	140811111		2180	4283	6463	SO:0001819	synonymous_variant	0			-	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1479G>A	4.37:g.140811111C>T				Silent	SNP	pfam_Neuroggenic_mastermind-like_N	p.Q493	ENST00000509479.2	37	c.1479	CCDS54805.1	4																																																																																			rs62344937	MAML3	-	NULL		0.542	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML3	HGNC	protein_coding	OTTHUMT00000364934.2	0	0	0	24	24	0	0.00	0.00	C			140811111	-1	5	1	22	0	tier1	no_errors	ENST00000509479	ensembl	human	known	74_37	silent	18.52	100.00	SNP	1.000	T	5	22
NTN4	59277	genome.wustl.edu	37	12	96066670	96066670	+	Intron	SNP	G	G	T			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr12:96066670G>T	ENST00000343702.4	-	8	1959				NTN4_ENST00000538383.1_Intron|PGAM1P5_ENST00000552554.1_RNA|NTN4_ENST00000344911.4_Intron|NTN4_ENST00000553059.1_Intron	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4						axon guidance (GO:0007411)|extracellular matrix organization (GO:0030198)|neuron remodeling (GO:0016322)|regulation of branching involved in salivary gland morphogenesis by extracellular matrix-epithelial cell signaling (GO:0060668)	basement membrane (GO:0005604)|plasma membrane (GO:0005886)				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						TCAAGCATCTGGAAGGTCTCT	0.498													ENSG00000257150																																					0																																										SO:0001627	intron_variant	0			-	AF119916	CCDS9054.1	12q22	2013-03-01			ENSG00000074527	ENSG00000074527		"""Netrins"""	13658	protein-coding gene	gene with protein product	"""beta-netrin"", ""Netrin-4"""	610401				11038171	Standard	NM_021229		Approved		uc001tei.3	Q9HB63	OTTHUMG00000170290	ENST00000343702.4:c.1511-2748C>A	12.37:g.96066670G>T			B2RNC2|Q658K9|Q7L3F1|Q7L9D6|Q7Z5B6|Q9BZP1|Q9NT44|Q9P133	R	SNP	-	NULL	ENST00000343702.4	37	NULL	CCDS9054.1	12																																																																																			-	PGAM1P5	-	-		0.498	NTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGAM1P5	HGNC	protein_coding	OTTHUMT00000408372.1	0	0	0	42	42	1	0.00	0.00	G	NM_021229		96066670	+1	14	0	30	5	tier1	no_errors	ENST00000552554	ensembl	human	known	74_37	rna	31.82	0.00	SNP	1.000	T	14	30
RANBP2	5903	genome.wustl.edu	37	2	109368152	109368152	+	Missense_Mutation	SNP	A	A	G			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr2:109368152A>G	ENST00000283195.6	+	11	1750	c.1624A>G	c.(1624-1626)Aaa>Gaa	p.K542E		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	542					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GATTCACAGAAAAGCAGTGTA	0.403													ENSG00000153201																																					0													20.0	22.0	22.0					2																	109368152		975	2109	3084	SO:0001583	missense	0			-	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.1624A>G	2.37:g.109368152A>G	ENSP00000283195:p.Lys542Glu		Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom	p.K542E	ENST00000283195.6	37	c.1624	CCDS2079.1	2	.	.	.	.	.	.	.	.	.	.	A	15.45	2.836811	0.50951	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.52295	0.67	5.25	5.25	0.73442	.	.	.	.	.	T	0.43144	0.1234	M	0.63428	1.95	0.25504	N	0.987525	P	0.49090	0.919	B	0.36092	0.217	T	0.49908	-0.8889	9	0.59425	D	0.04	-25.5292	12.0375	0.53433	0.8559:0.1441:0.0:0.0	.	542	P49792	RBP2_HUMAN	E	542	ENSP00000283195:K542E	ENSP00000283195:K542E	K	+	1	0	RANBP2	108734584	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	4.857000	0.62939	2.102000	0.63906	0.528000	0.53228	AAA	-	RANBP2	-	NULL		0.403	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP2	HGNC	protein_coding	OTTHUMT00000253594.1	0	0	0	74	74	0	0.00	0.00	A	NM_006267		109368152	+1	8	0	47	0	tier1	no_errors	ENST00000283195	ensembl	human	known	74_37	missense	14.29	0.00	SNP	1.000	G	8	47
WDR59	79726	genome.wustl.edu	37	16	74976691	74976691	+	Frame_Shift_Del	DEL	T	T	-			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr16:74976691delT	ENST00000262144.6	-	7	609	c.479delA	c.(478-480)aatfs	p.N160fs		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	160										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						GCAGTTAGCATTTTTTTTATT	0.502													ENSG00000103091																																					0													84.0	76.0	79.0					16																	74976691		2198	4300	6498	SO:0001589	frameshift_variant	0				AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"""WD repeat domain containing"""	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.479delA	16.37:g.74976691delT	ENSP00000262144:p.Asn160fs		B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Frame_Shift_Del	DEL	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_UBQ-conjugating_enzyme/RWD,smart_WD40_repeat,smart_RWD-domain,pfscan_RWD-domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.N160fs	ENST00000262144.6	37	c.479	CCDS32488.1	16																																																																																				WDR59	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.502	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR59	HGNC	protein_coding	OTTHUMT00000410601.3	0	0	0	25	25	52	0.00	0.00	T	NM_030581		74976691	-1	4	2	22	41	tier1	no_errors	ENST00000262144	ensembl	human	known	74_37	frame_shift_del	15.38	4.65	DEL	0.999	-	4	22
NFAT5	10725	genome.wustl.edu	37	16	69729107	69729124	+	In_Frame_Del	DEL	GGCCAACCACAAAACGAG	GGCCAACCACAAAACGAG	-			TCGA-WK-A8XX-01A-11D-A37C-09	TCGA-WK-A8XX-10A-01D-A37F-09	GGCCAACCACAAAACGAG	GGCCAACCACAAAACGAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	fde6b1fa-e014-4a04-ab32-1f035cc3ad88	385b779c-11ea-4519-a025-a0fb7f0f2fb6	g.chr16:69729107_69729124delGGCCAACCACAAAACGAG	ENST00000354436.2	+	13	4747_4764	c.4429_4446delGGCCAACCACAAAACGAG	c.(4429-4446)ggccaaccacaaaacgagdel	p.GQPQNE1477del	NFAT5_ENST00000432919.1_In_Frame_Del_p.GQPQNE1495del|NFAT5_ENST00000349945.1_In_Frame_Del_p.GQPQNE1401del|NFAT5_ENST00000566899.1_In_Frame_Del_p.GQPQNE1401del|NFAT5_ENST00000567239.1_In_Frame_Del_p.GQPQNE1494del|NFAT5_ENST00000393742.2_In_Frame_Del_p.GQPQNE1401del	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1477					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						AAGTCAGCCAGGCCAACCACAAAACGAGGGCCAGCCAC	0.454													ENSG00000102908																																					0																																										SO:0001651	inframe_deletion	0				AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.4429_4446delGGCCAACCACAAAACGAG	16.37:g.69729107_69729124delGGCCAACCACAAAACGAG	ENSP00000346420:p.Gly1477_Glu1482del		A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	In_Frame_Del	DEL	pfam_RHD,superfamily_p53-like_TF_D-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT	p.QNEGQP1498in_frame_del	ENST00000354436.2	37	c.4483_4500	CCDS10881.1	16																																																																																				NFAT5	-	NULL		0.454	NFAT5-001	KNOWN	basic|CCDS	protein_coding	NFAT5	HGNC	protein_coding	OTTHUMT00000268952.2	0	0	0	109	109	109	0.00	0.00	GGCCAACCACAAAACGAG	NM_138714		69729124	+1	2	2	58	58	tier1	no_errors	ENST00000432919	ensembl	human	known	74_37	in_frame_del	3.33	3.33	DEL	1.000:1.000:0.997:1.000:1.000:0.987:1.000:1.000:0.988:1.000:1.000:1.000:0.998:0.985:0.965:1.000:1.000:1.000	-	2	58
