#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_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_ENSG_ID	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_Ens_Gene	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	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_Mutation_Status	i_Normal_Alt_Count	i_Normal_Ref_Count	i_Normal_VAF	i_ORegAnno_bin	i_PurityEst	i_RNA_Tum_Ref_count	i_RNA_Tum_VAF	i_RNA_Tum_Var_count	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Tier	i_Tumor_Alt_Count	i_Tumor_Ref_Count	i_Tumor_VAF	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_WGS_Norm_Ref_count	i_WGS_Norm_VAF	i_WGS_Norm_Var_count	i_WGS_Tum_Ref_count	i_WGS_Tum_VAF	i_WGS_Tum_Var_count	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_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_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_rs_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
CDK5R1	8851	genome.wustl.edu	37	17	30815527	30815527	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr17:30815527G>T	ENST00000313401.3	+	2	1578	c.889G>T	c.(889-891)Gac>Tac	p.D297Y		NM_003885.2	NP_003876.1	Q15078	CD5R1_HUMAN	cyclin-dependent kinase 5, regulatory subunit 1 (p35)	297					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|brain development (GO:0007420)|cell proliferation (GO:0008283)|cerebellum development (GO:0021549)|embryo development (GO:0009790)|ephrin receptor signaling pathway (GO:0048013)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|hippocampus development (GO:0021766)|ionotropic glutamate receptor signaling pathway (GO:0035235)|layer formation in cerebral cortex (GO:0021819)|negative regulation of axon extension (GO:0030517)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein targeting to membrane (GO:0090314)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of neuron differentiation (GO:0045664)|rhythmic process (GO:0048511)|serine phosphorylation of STAT3 protein (GO:0033136)|superior olivary nucleus maturation (GO:0021722)	axon (GO:0030424)|contractile fiber (GO:0043292)|cyclin-dependent protein kinase 5 holoenzyme complex (GO:0016533)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|cyclin-dependent protein kinase 5 activator activity (GO:0016534)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activator activity (GO:0043539)			cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)			CGGCCAGGAGGACAAGAAGCG	0.483																																																	0								ENSG00000176749						56.0	60.0	58.0					17																	30815527		2203	4300	6503	CDK5R1	SO:0001583	missense	0			-	HGNC	X80343	CCDS11273.1	17q12	2006-03-28			ENSG00000176749	ENSG00000176749			1775	protein-coding gene	gene with protein product		603460				8090221	Standard	NM_003885		Approved	p35nck5a, Nck5a	uc002hhn.3	Q15078	OTTHUMG00000132814	ENST00000313401.3:c.889G>T	17.37:g.30815527G>T	ENSP00000318486:p.Asp297Tyr	Somatic	0	42	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	45	13.46	E1P664|Q5U0G3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_CDK5_activator,superfamily_Cyclin-like,pirsf_CDK5_activator	p.D297Y	ENST00000313401.3	37	c.889	CCDS11273.1	17	.	.	.	.	.	.	.	.	.	.	G	17.39	3.376658	0.61735	.	.	ENSG00000176749	ENST00000313401	T	0.79141	-1.24	5.55	5.55	0.83447	Cyclin-like (1);	0.057360	0.64402	D	0.000002	D	0.82499	0.5050	L	0.34521	1.04	0.58432	D	0.999997	D;P	0.89917	1.0;0.742	D;B	0.68192	0.956;0.367	D	0.84338	0.0525	10	0.87932	D	0	-8.9213	16.9953	0.86366	0.0:0.0:1.0:0.0	.	297;297	Q8N619;Q15078	.;CD5R1_HUMAN	Y	297	ENSP00000318486:D297Y	ENSP00000318486:D297Y	D	+	1	0	CDK5R1	27839640	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.804000	0.99143	2.609000	0.88269	0.557000	0.71058	GAC	-	pirsf_CDK5_activator		0.483	CDK5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK5R1	protein_coding	OTTHUMT00000256264.1	G	NM_003885	-		30815527	+1	no_errors	ENST00000313401	ensembl	human	known	74_37	missense	SNP	1.000	T
CENPN	55839	genome.wustl.edu	37	16	81058170	81058171	+	Intron	INS	-	-	CAACTCAGC	rs112620608|rs71272432|rs567171711	byFrequency	TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr16:81058170_81058171insCAACTCAGC	ENST00000305850.5	+	8	1423				RP11-303E16.3_ENST00000566390.1_RNA|RP11-303E16.3_ENST00000562315.1_RNA|CENPN_ENST00000428963.2_Intron|RP11-303E16.3_ENST00000561808.1_RNA|CENPN_ENST00000439957.3_Intron|CENPN_ENST00000393335.3_Intron	NM_001100624.2|NM_001270474.1	NP_001094094.2|NP_001257403.1	Q96H22	CENPN_HUMAN	centromere protein N						CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|large_intestine(5)|lung(4)	10						AGTGTCCTGCTCAACTCAGCCA	0.406														1499	0.299321	0.3222	0.3372	5008	,	,		16739	0.4335		0.2247	False		,,,				2504	0.18																0								ENSG00000260213																																			RP11-303E16.3	SO:0001627	intron_variant	0				Clone_based_vega_gene	AK026313	CCDS10931.1, CCDS42199.1, CCDS42200.1, CCDS58482.1, CCDS58483.1	16q23.2	2013-11-05	2006-06-15	2006-06-15	ENSG00000166451	ENSG00000166451			30873	protein-coding gene	gene with protein product		611509	"""chromosome 16 open reading frame 60"""	C16orf60		16622419	Standard	NM_001100625		Approved	FLJ13607, FLJ22660, BM039	uc002ffy.4	Q96H22	OTTHUMG00000137628	ENST00000305850.5:c.634-149->CAACTCAGC	16.37:g.81058171_81058179dupCAACTCAGC		Somatic	NA	NA	NA		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	A8MZE6|B3KN53|B4DJD1|B4DPY7|C9JJM5|D3DUK8|E7ES30|E7ETS3|Q9NZ83	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000305850.5	37	NULL	CCDS42200.1	16																																																																																			-	-		0.406	CENPN-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ENSG00000260213	protein_coding	OTTHUMT00000269051.1	-	NM_018455			81058171	-1	no_errors	ENST00000561808	ensembl	human	known	74_37	rna	INS	0.047:0.001	CAACTCAGC
POU3F1	5453	genome.wustl.edu	37	1	38511693	38511693	+	Silent	SNP	C	C	T			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr1:38511693C>T	ENST00000373012.2	-	1	757	c.723G>A	c.(721-723)gtG>gtA	p.V241V	RP5-884C9.2_ENST00000432922.1_lincRNA	NM_002699.3	NP_002690.3	Q03052	PO3F1_HUMAN	POU class 3 homeobox 1	241	Gly-rich.				axon ensheathment (GO:0008366)|forebrain development (GO:0030900)|keratinocyte differentiation (GO:0030216)|myelination in peripheral nervous system (GO:0022011)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|lung(1)|upper_aerodigestive_tract(1)	3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGTGCTCGCCCACCGATGAgc	0.731																																																	0								ENSG00000185668						11.0	12.0	12.0					1																	38511693		2192	4284	6476	POU3F1	SO:0001819	synonymous_variant	0			-	HGNC	L26494	CCDS30679.1	1p34.3	2011-06-20	2007-07-13		ENSG00000185668	ENSG00000185668		"""Homeoboxes / POU class"""	9214	protein-coding gene	gene with protein product		602479	"""POU domain class 3, transcription factor 1"""	OTF6		8451175	Standard	NM_002699		Approved	OCT6, SCIP	uc001ccp.1	Q03052	OTTHUMG00000000485	ENST00000373012.2:c.723G>A	1.37:g.38511693C>T		Somatic	0	30	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	15	48.28	Q5TAG2	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pirsf_Transcription_factor_POU,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.V241	ENST00000373012.2	37	c.723	CCDS30679.1	1																																																																																			-	pirsf_Transcription_factor_POU		0.731	POU3F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU3F1	protein_coding	OTTHUMT00000001213.1	C	NM_002699	-		38511693	-1	no_errors	ENST00000373012	ensembl	human	known	74_37	silent	SNP	1.000	T
CEBPE	1053	genome.wustl.edu	37	14	23586911	23586911	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr14:23586911G>A	ENST00000206513.5	-	2	1155	c.631C>T	c.(631-633)Cgg>Tgg	p.R211W		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	211	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to lipopolysaccharide (GO:0071222)|cytokine biosynthetic process (GO:0042089)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|macrophage differentiation (GO:0030225)|phagocytosis (GO:0006909)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	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)			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		TTGCGCTCCCGCCTCAGCCGG	0.617																																					NSCLC(63;1230 1818 14565 22565)												0								ENSG00000092067						64.0	63.0	63.0					14																	23586911		2203	4300	6503	CEBPE	SO:0001583	missense	0			-	HGNC		CCDS9589.1	14q11.2	2014-09-17			ENSG00000092067	ENSG00000092067		"""basic leucine zipper proteins"""	1836	protein-coding gene	gene with protein product		600749				8661101	Standard	NM_001805		Approved	CRP1	uc001wiv.2	Q15744	OTTHUMG00000028719	ENST00000206513.5:c.631C>T	14.37:g.23586911G>A	ENSP00000206513:p.Arg211Trp	Somatic	0	62	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	65	61	50.39	Q15745|Q8IYI2|Q99803	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_bZIP,smart_bZIP,pirsf_CCAAT/enhancer-binding,pfscan_bZIP	p.R211W	ENST00000206513.5	37	c.631	CCDS9589.1	14	.	.	.	.	.	.	.	.	.	.	G	22.3	4.271216	0.80469	.	.	ENSG00000092067	ENST00000206513	T	0.71934	-0.61	5.2	3.19	0.36642	Basic-leucine zipper (bZIP) transcription factor (2);Basic leucine zipper (1);	0.000000	0.85682	D	0.000000	D	0.87947	0.6306	H	0.96301	3.8	0.58432	D	0.999993	D	0.89917	1.0	D	0.91635	0.999	D	0.90741	0.4650	10	0.87932	D	0	-20.5285	12.485	0.55868	0.0:0.0:0.6971:0.3029	.	211	Q15744	CEBPE_HUMAN	W	211	ENSP00000206513:R211W	ENSP00000206513:R211W	R	-	1	2	CEBPE	22656751	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.937000	0.28951	1.137000	0.42214	0.655000	0.94253	CGG	-	pfam_bZIP,smart_bZIP,pirsf_CCAAT/enhancer-binding,pfscan_bZIP		0.617	CEBPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEBPE	protein_coding	OTTHUMT00000071716.2	G	NM_001805	-		23586911	-1	no_errors	ENST00000206513	ensembl	human	known	74_37	missense	SNP	1.000	A
WRAP53	55135	genome.wustl.edu	37	17	7592045	7592045	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr17:7592045delC	ENST00000316024.5	+	1	2427	c.79delC	c.(79-81)cccfs	p.P27fs	WRAP53_ENST00000431639.2_Frame_Shift_Del_p.P27fs|WRAP53_ENST00000457584.2_Frame_Shift_Del_p.P27fs|WRAP53_ENST00000534050.1_Frame_Shift_Del_p.P27fs|TP53_ENST00000420246.2_5'Flank|WRAP53_ENST00000396463.2_Frame_Shift_Del_p.P27fs|RP11-199F11.2_ENST00000571370.1_RNA|TP53_ENST00000269305.4_5'Flank|TP53_ENST00000455263.2_5'Flank|TP53_ENST00000445888.2_5'Flank			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	27	Pro-rich.				positive regulation of telomerase activity (GO:0051973)|telomere formation via telomerase (GO:0032203)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						CCATCCTTCTCCCCACGCTTC	0.592																																																	0								ENSG00000141499						67.0	74.0	72.0					17																	7592045		2203	4300	6503	WRAP53	SO:0001589	frameshift_variant	0				HGNC	AK001247, DQ431240	CCDS11119.1	17p13.1	2014-09-17	2009-02-16	2009-02-16	ENSG00000141499	ENSG00000141499		"""WD repeat domain containing"""	25522	protein-coding gene	gene with protein product	"""telomerase cajal body protein 1"", ""WD-encoding RNA antisense to p53"""	612661	"""WD repeat domain 79"""	WDR79		19179534, 19250907, 19571673, 19342896, 20494116, 21441950	Standard	NM_018081		Approved	FLJ10385, TCAB1	uc010vuh.2	Q9BUR4	OTTHUMG00000134323	ENST00000316024.5:c.79delC	17.37:g.7592045delC	ENSP00000324203:p.Pro27fs	Somatic	0	28	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	267	19	93.36	B3KPR9|D3DTQ4|Q08ET9|Q9NW09	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.H28fs	ENST00000316024.5	37	c.79	CCDS11119.1	17																																																																																			-	NULL		0.592	WRAP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRAP53	protein_coding	OTTHUMT00000259385.2	C	NM_018081			7592045	+1	no_errors	ENST00000316024	ensembl	human	known	74_37	frame_shift_del	DEL	0.345	-
OR5P2	120065	genome.wustl.edu	37	11	7818383	7818384	+	In_Frame_Ins	INS	-	-	ATATGGTTACCAGGTAGATGC	rs138967151	byFrequency	TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr11:7818383_7818384insATATGGTTACCAGGTAGATGC	ENST00000329434.2	-	1	136_137	c.106_107insGCATCTACCTGGTAACCATAT	c.(106-108)tct>tGCATCTACCTGGTAACCATATct	p.35_36insCIYLVTI	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GAGATTACCAGATAGGATGATC	0.436														1170	0.233626	0.3404	0.2896	5008	,	,		17899	0.128		0.2763	False		,,,				2504	0.1145																0								ENSG00000183303																																			OR5P2	SO:0001652	inframe_insertion	0				HGNC	AF173006	CCDS7782.1	11p15.4	2012-08-09			ENSG00000183303	ENSG00000183303		"""GPCR / Class A : Olfactory receptors"""	14783	protein-coding gene	gene with protein product							Standard	NM_153444		Approved	JCG3	uc001mfp.1	Q8WZ92	OTTHUMG00000165668	ENST00000329434.2:c.106_107insGCATCTACCTGGTAACCATAT	11.37:g.7818383_7818384insATATGGTTACCAGGTAGATGC	ENSP00000331823:p.Leu35_Ser36insCysIleTyrLeuValThrIle	Somatic	NA	NA	NA		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	Q3MIS8	In_Frame_Ins	INS	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.36in_frame_insCIYLVTI	ENST00000329434.2	37	c.107_106	CCDS7782.1	11																																																																																			-	pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn		0.436	OR5P2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5P2	protein_coding	OTTHUMT00000385696.1	-	NM_153444			7818384	-1	no_errors	ENST00000329434	ensembl	human	known	74_37	in_frame_ins	INS	0.001:0.001	ATATGGTTACCAGGTAGATGC
PLB1	151056	genome.wustl.edu	37	2	28855889	28855889	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr2:28855889G>T	ENST00000327757.5	+	56	4125	c.4081G>T	c.(4081-4083)Gca>Tca	p.A1361S	PLB1_ENST00000541605.1_Missense_Mutation_p.A326S|AC074011.2_ENST00000431376.1_RNA|PLB1_ENST00000422425.2_Missense_Mutation_p.A1350S	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	1361	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GATGGCCATCGCACTCTGGAA	0.552																																																	0								ENSG00000163803						105.0	96.0	99.0					2																	28855889		2203	4300	6503	PLB1	SO:0001583	missense	0			-	HGNC		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.4081G>T	2.37:g.28855889G>T	ENSP00000330442:p.Ala1361Ser	Somatic	0	30	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Lipase_GDSL	p.A1350S	ENST00000327757.5	37	c.4048	CCDS33168.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.50|17.50	3.405639|3.405639	0.62288|0.62288	.|.	.|.	ENSG00000163803|ENSG00000163803	ENST00000327757;ENST00000422425;ENST00000541605|ENST00000436775	T;T;T|.	0.25749|.	1.78;1.78;1.78|.	5.77|5.77	5.77|5.77	0.91146|0.91146	Esterase, SGNH hydrolase-type (1);Esterase, SGNH hydrolase-type, subgroup (1);Lipase, GDSL (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76026|0.76026	0.3930|0.3930	M|M	0.77616|0.77616	2.38|2.38	0.43275|0.43275	D|D	0.995236|0.995236	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	T|T	0.75886|0.75886	-0.3159|-0.3159	10|5	0.22109|.	T|.	0.4|.	-24.5337|-24.5337	15.4962|15.4962	0.75653|0.75653	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1350;1361|.	Q6P1J6-3;Q6P1J6|.	.;PLB1_HUMAN|.	S|L	1361;1350;326|88	ENSP00000330442:A1361S;ENSP00000416440:A1350S;ENSP00000437426:A326S|.	ENSP00000330442:A1361S|.	A|R	+|+	1|2	0|0	PLB1|PLB1	28709393|28709393	0.997000|0.997000	0.39634|0.39634	0.636000|0.636000	0.29352|0.29352	0.829000|0.829000	0.46940|0.46940	5.136000|5.136000	0.64783|0.64783	2.744000|2.744000	0.94065|0.94065	0.561000|0.561000	0.74099|0.74099	GCA|CGC	-	pfam_Lipase_GDSL		0.552	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	PLB1	protein_coding	OTTHUMT00000353348.2	G		-		28855889	+1	no_errors	ENST00000422425	ensembl	human	known	74_37	missense	SNP	0.711	T
SLC22A17	51310	genome.wustl.edu	37	14	23818512	23818512	+	Silent	SNP	A	A	G			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr14:23818512A>G	ENST00000206544.8	-	3	831	c.495T>C	c.(493-495)ctT>ctC	p.L165L	SLC22A17_ENST00000397267.1_Silent_p.L165L|SLC22A17_ENST00000354772.3_Silent_p.L165L|SLC22A17_ENST00000397260.3_Silent_p.L54L|SLC22A17_ENST00000474057.1_5'UTR	NM_020372.2	NP_065105.2	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17	165					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|siderophore transport (GO:0015891)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)|vacuole (GO:0005773)	transmembrane signaling receptor activity (GO:0004888)|transmembrane transporter activity (GO:0022857)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		CAACACCGGCAAGCAGAAAGC	0.627																																																	0								ENSG00000092096						67.0	61.0	63.0					14																	23818512		2203	4300	6503	SLC22A17	SO:0001819	synonymous_variant	0			-	HGNC	AJ243653	CCDS9593.1, CCDS9594.2	14q11.2	2013-05-22	2008-01-11		ENSG00000092096	ENSG00000092096		"""Solute carriers"""	23095	protein-coding gene	gene with protein product	"""neutrophil gelatinase-associated lipocalin receptor"""	611461				16377569	Standard	NM_016609		Approved	BOCT, BOIT, NGALR	uc001wjl.3	Q8WUG5	OTTHUMG00000028740	ENST00000206544.8:c.495T>C	14.37:g.23818512A>G		Somatic	0	20	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	15	59.46	A4UA13|A8MUT0|Q2TAB0|Q5BKY8|Q86U04|Q9H1D3|Q9NQD5	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L165	ENST00000206544.8	37	c.495	CCDS9593.1	14																																																																																			-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.627	SLC22A17-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC22A17	protein_coding	OTTHUMT00000157223.3	A	NM_020372	-		23818512	-1	no_errors	ENST00000206544	ensembl	human	known	74_37	silent	SNP	0.952	G
SEMA4G	57715	genome.wustl.edu	37	10	102740287	102740287	+	Intron	SNP	G	G	T			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr10:102740287G>T	ENST00000370250.4	+	11	1724				MRPL43_ENST00000370242.4_Intron|SEMA4G_ENST00000517724.1_Intron|MRPL43_ENST00000370241.3_Intron|RP11-108L7.4_ENST00000447344.1_RNA|SEMA4G_ENST00000210633.3_Intron|MRPL43_ENST00000318325.2_Intron	NM_017893.3	NP_060363.2	Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G						cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		AGGGTGCTGAGAGCAGATCCC	0.547																																																	0								ENSG00000236662						54.0	50.0	52.0					10																	102740287		2203	4300	6503	RP11-108L7.4	SO:0001627	intron_variant	0			-	Clone_based_vega_gene	AB046839	CCDS7501.1, CCDS55724.1	10q24.31	2013-01-11			ENSG00000095539	ENSG00000095539		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10735	protein-coding gene	gene with protein product							Standard	NM_017893		Approved	FLJ20590, KIAA1619	uc001krw.2	Q9NTN9	OTTHUMG00000018922	ENST00000370250.4:c.1352-48G>T	10.37:g.102740287G>T		Somatic	0	18	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	14	22.22	A1A5C6|A6NJY8|Q58EY1|Q9HCF3	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000370250.4	37	NULL		10																																																																																			-	-		0.547	SEMA4G-002	KNOWN	basic	protein_coding	ENSG00000236662	protein_coding	OTTHUMT00000049920.2	G		-		102740287	-1	no_errors	ENST00000447344	ensembl	human	known	74_37	rna	SNP	0.002	T
STS	412	genome.wustl.edu	37	X	7171296	7171296	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chrX:7171296C>A	ENST00000217961.4	+	2	291	c.71C>A	c.(70-72)gCa>gAa	p.A24E		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	24					cellular protein metabolic process (GO:0044267)|epidermis development (GO:0008544)|female pregnancy (GO:0007565)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|steroid catabolic process (GO:0006706)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|steryl-sulfatase activity (GO:0004773)|sulfuric ester hydrolase activity (GO:0008484)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Norelgestromin(DB06713)	AGCCACGCAGCATCAAGGCCG	0.502									Ichthyosis																																								0								ENSG00000101846						128.0	94.0	106.0					X																	7171296		2203	4299	6502	STS	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	-	HGNC	M16505	CCDS14127.1	Xp22.32	2013-06-10	2007-07-19		ENSG00000101846	ENSG00000101846	3.1.6.2	"""Arylsulfatase family"""	11425	protein-coding gene	gene with protein product	"""arylsulfatase C"""	300747	"""steroid sulfatase (microsomal), arylsulfatase C, isozyme S"""	ARSC1			Standard	NM_000351		Approved	ARSC	uc004cry.4	P08842	OTTHUMG00000021102	ENST00000217961.4:c.71C>A	X.37:g.7171296C>A	ENSP00000217961:p.Ala24Glu	Somatic	0	28	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	56	8.20	B2RA47	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.A24E	ENST00000217961.4	37	c.71	CCDS14127.1	X	.	.	.	.	.	.	.	.	.	.	C	2.947	-0.217660	0.06101	.	.	ENSG00000101846	ENST00000217961	D	0.94046	-3.34	3.68	0.0467	0.14278	Alkaline-phosphatase-like, core domain (1);	2.223100	0.02918	U	0.137577	D	0.85182	0.5638	N	0.20483	0.58	0.09310	N	1	B	0.16166	0.016	B	0.12156	0.007	T	0.73004	-0.4119	10	0.12103	T	0.63	.	3.1028	0.06331	0.3311:0.3658:0.0:0.3032	.	24	P08842	STS_HUMAN	E	24	ENSP00000217961:A24E	ENSP00000217961:A24E	A	+	2	0	STS	7181296	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.859000	0.04277	0.004000	0.14682	0.600000	0.82982	GCA	-	superfamily_Alkaline_phosphatase_core		0.502	STS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STS	protein_coding	OTTHUMT00000055686.1	C	NM_000351	-		7171296	+1	no_errors	ENST00000217961	ensembl	human	known	74_37	missense	SNP	0.000	A
TPCN2	219931	genome.wustl.edu	37	11	68839473	68839473	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr11:68839473G>A	ENST00000294309.3	+	11	1144	c.1043G>A	c.(1042-1044)gGa>gAa	p.G348E	TPCN2_ENST00000542467.1_Missense_Mutation_p.G348E|TPCN2_ENST00000442692.2_3'UTR	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	348					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GTGGGGGAGGGAGGAGCCTTC	0.627																																																	0								ENSG00000162341						52.0	56.0	54.0					11																	68839473		2200	4294	6494	TPCN2	SO:0001583	missense	0			-	HGNC	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"""Voltage-gated ion channels / Two-pore channels"""	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.1043G>A	11.37:g.68839473G>A	ENSP00000294309:p.Gly348Glu	Somatic	0	31	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	28	47.17	Q9NT82	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ion_trans_dom	p.G348E	ENST00000294309.3	37	c.1043	CCDS8189.1	11	.	.	.	.	.	.	.	.	.	.	G	4.184	0.032846	0.08101	.	.	ENSG00000162341	ENST00000356782;ENST00000294309;ENST00000535009;ENST00000542467	D;D	0.97041	-4.22;-4.22	4.27	-3.25	0.05079	.	1.589960	0.03662	N	0.242756	D	0.94235	0.8149	L	0.56769	1.78	0.09310	N	1	B;B;B	0.18741	0.018;0.002;0.03	B;B;B	0.13407	0.008;0.002;0.009	D	0.84221	0.0461	10	0.18710	T	0.47	0.506	6.5814	0.22596	0.3021:0.4946:0.2033:0.0	.	348;348;263	E7ETX0;Q8NHX9;F5H1G5	.;TPC2_HUMAN;.	E	278;348;263;348	ENSP00000294309:G348E;ENSP00000445551:G348E	ENSP00000294309:G348E	G	+	2	0	TPCN2	68596049	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.578000	0.05841	-0.373000	0.07979	-1.263000	0.01449	GGA	-	NULL		0.627	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPCN2	protein_coding	OTTHUMT00000396878.2	G	NM_139075	-		68839473	+1	no_errors	ENST00000294309	ensembl	human	known	74_37	missense	SNP	0.000	A
OBSCN	84033	genome.wustl.edu	37	1	228520994	228520994	+	Missense_Mutation	SNP	C	C	T	rs564170262		TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr1:228520994C>T	ENST00000422127.1	+	58	15870	c.15826C>T	c.(15826-15828)Cgc>Tgc	p.R5276C	OBSCN_ENST00000284548.11_Missense_Mutation_p.R5276C|OBSCN_ENST00000366709.4_Missense_Mutation_p.R2395C|OBSCN_ENST00000366707.4_Missense_Mutation_p.R2910C|OBSCN_ENST00000570156.2_Missense_Mutation_p.R6233C	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5276	Ig-like 50.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCCTGGCACACGCCTGGCCAA	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		17603	0.001		0.0	False		,,,				2504	0.0																0								ENSG00000154358						11.0	14.0	13.0					1																	228520994		1999	4132	6131	OBSCN	SO:0001583	missense	0			-	HGNC	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.15826C>T	1.37:g.228520994C>T	ENSP00000409493:p.Arg5276Cys	Somatic	0	48	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	52	35.00	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.R5276C	ENST00000422127.1	37	c.15826	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958704	0.92726	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.29	5.29	0.74685	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.149514	0.43579	D	0.000550	T	0.60483	0.2272	M	0.74467	2.265	0.44366	D	0.99726	D;D	0.76494	0.999;0.998	P;P	0.60609	0.877;0.804	T	0.61535	-0.7043	10	0.51188	T	0.08	.	14.3599	0.66764	0.0:0.9273:0.0:0.0727	.	5276;5276	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	C	5276;5276;2910;2395	ENSP00000284548:R5276C;ENSP00000409493:R5276C;ENSP00000355668:R2910C;ENSP00000355670:R2395C	ENSP00000284548:R5276C	R	+	1	0	OBSCN	226587617	0.528000	0.26314	1.000000	0.80357	0.972000	0.66771	2.567000	0.45956	2.745000	0.94114	0.561000	0.74099	CGC	-	pfam_Ig_I-set,smart_Ig_sub2,pfscan_Ig-like_dom		0.637	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	protein_coding		C	NM_052843	-		228520994	+1	no_errors	ENST00000422127	ensembl	human	known	74_37	missense	SNP	0.995	T
TIA1	7072	genome.wustl.edu	37	2	70441617	70441617	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr2:70441617delT	ENST00000433529.2	-	12	1108	c.898delA	c.(898-900)attfs	p.I300fs	TIA1_ENST00000445587.1_Intron|TIA1_ENST00000482876.1_5'Flank|TIA1_ENST00000282574.4_Frame_Shift_Del_p.I299fs|TIA1_ENST00000415783.2_Frame_Shift_Del_p.I289fs|C2orf42_ENST00000470096.1_Intron	NM_022173.2	NP_071505.2	P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein	300					apoptotic process (GO:0006915)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of translation (GO:0017148)|regulation of mRNA splicing, via spliceosome (GO:0048024)	cytoplasmic stress granule (GO:0010494)|nuclear stress granule (GO:0097165)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						GGATATCCAATTTGATTCTGC	0.368																																																	0								ENSG00000116001						55.0	50.0	52.0					2																	70441617		2203	4300	6503	TIA1	SO:0001589	frameshift_variant	0				HGNC		CCDS1900.1, CCDS1901.1	2p13	2013-02-12	2001-11-28		ENSG00000116001	ENSG00000116001		"""RNA binding motif (RRM) containing"""	11802	protein-coding gene	gene with protein product	"""T-cell-restricted intracellular antigen-1"", ""nucleolysin TIA-1 isoform p40"""	603518	"""TIA1 cytotoxic granule-associated RNA-binding protein"""			8176212, 12486009	Standard	NM_022173		Approved		uc002sgj.4	P31483	OTTHUMG00000129644	ENST00000433529.2:c.898delA	2.37:g.70441617delT	ENSP00000401371:p.Ile300fs	Somatic	0	22	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	10	79.17	Q53SS9	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.I300fs	ENST00000433529.2	37	c.898	CCDS1901.1	2																																																																																			-	NULL		0.368	TIA1-001	KNOWN	basic|CCDS	protein_coding	TIA1	protein_coding	OTTHUMT00000251842.2	T	NM_022037			70441617	-1	no_errors	ENST00000433529	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-
TUBGCP6	85378	genome.wustl.edu	37	22	50660945	50660945	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr22:50660945G>T	ENST00000248846.5	-	14	2451	c.2347C>A	c.(2347-2349)Cag>Aag	p.Q783K	TUBGCP6_ENST00000439308.2_Missense_Mutation_p.Q783K|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	783					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CGGTGCCTCTGGATTCTCCAC	0.567																																																	0								ENSG00000128159						72.0	65.0	68.0					22																	50660945		2203	4300	6503	TUBGCP6	SO:0001583	missense	0			-	HGNC	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.2347C>A	22.37:g.50660945G>T	ENSP00000248846:p.Gln783Lys	Somatic	0	14	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	10	28.57	Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_TUBGCP	p.Q783K	ENST00000248846.5	37	c.2347	CCDS14087.1	22	.	.	.	.	.	.	.	.	.	.	G	29.6	5.021969	0.93462	.	.	ENSG00000128159	ENST00000248846;ENST00000439308	T;T	0.09163	3.01;3.17	4.9	4.9	0.64082	.	0.408258	0.28388	N	0.015531	T	0.18299	0.0439	L	0.47716	1.5	0.49213	D	0.999762	P;P	0.48230	0.907;0.907	P;P	0.48770	0.589;0.589	T	0.00842	-1.1544	10	0.44086	T	0.13	.	18.0724	0.89413	0.0:0.0:1.0:0.0	.	775;783	B2RWN4;Q96RT7	.;GCP6_HUMAN	K	783	ENSP00000248846:Q783K;ENSP00000397387:Q783K	ENSP00000248846:Q783K	Q	-	1	0	TUBGCP6	49003072	1.000000	0.71417	0.962000	0.40283	0.939000	0.58152	8.782000	0.91809	2.265000	0.75225	0.561000	0.74099	CAG	-	pfam_TUBGCP		0.567	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP6	protein_coding	OTTHUMT00000075004.3	G	NM_020461	-		50660945	-1	no_errors	ENST00000248846	ensembl	human	known	74_37	missense	SNP	1.000	T
TSKS	60385	genome.wustl.edu	37	19	50249932	50249932	+	Missense_Mutation	SNP	T	T	C	rs550916960|rs59626794	byFrequency	TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr19:50249932T>C	ENST00000246801.3	-	6	869	c.787A>G	c.(787-789)Aag>Gag	p.K263E	TSKS_ENST00000358830.3_Missense_Mutation_p.K63E	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	263					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		Gcctccggcttctgcttctcc	0.721																																																	0								ENSG00000126467						13.0	14.0	13.0					19																	50249932		2191	4282	6473	TSKS	SO:0001583	missense	0			-	HGNC	BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.787A>G	19.37:g.50249932T>C	ENSP00000246801:p.Lys263Glu	Somatic	0	16	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	25	19.35	Q8WXJ0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.K263E	ENST00000246801.3	37	c.787	CCDS12780.1	19	.	.	.	.	.	.	.	.	.	.	T	15.78	2.935057	0.52866	.	.	ENSG00000126467	ENST00000246801;ENST00000358830	T;T	0.34275	1.37;1.37	4.78	3.71	0.42584	.	0.135256	0.33792	N	0.004545	T	0.18923	0.0454	L	0.27053	0.805	0.29709	N	0.839571	B	0.13594	0.008	B	0.13407	0.009	T	0.17868	-1.0355	10	0.07813	T	0.8	-24.6132	5.67	0.17717	0.0:0.1247:0.0:0.8753	.	263	Q9UJT2	TSKS_HUMAN	E	263;63	ENSP00000246801:K263E;ENSP00000351691:K63E	ENSP00000246801:K263E	K	-	1	0	TSKS	54941744	0.998000	0.40836	0.998000	0.56505	0.678000	0.39670	1.953000	0.40352	2.000000	0.58554	0.482000	0.46254	AAG	-	NULL		0.721	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSKS	protein_coding	OTTHUMT00000465795.1	T	NM_021733	-		50249932	-1	no_errors	ENST00000246801	ensembl	human	known	74_37	missense	SNP	0.960	C
MKNK1	8569	genome.wustl.edu	37	1	47042283	47042283	+	Missense_Mutation	SNP	C	C	A	rs143453771	byFrequency	TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr1:47042283C>A	ENST00000371946.4	-	5	441	c.278G>T	c.(277-279)cGa>cTa	p.R93L	MKNK1_ENST00000428112.2_Missense_Mutation_p.R93L|MKNK1_ENST00000371945.4_Missense_Mutation_p.R93L|MKNK1_ENST00000371944.4_Nonsense_Mutation_p.E23*|MKNK1_ENST00000545730.1_Missense_Mutation_p.R93L|MKNK1_ENST00000341183.5_Missense_Mutation_p.R93L	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN	MAP kinase interacting serine/threonine kinase 1	93	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fibroblast growth factor receptor signaling pathway (GO:0008543)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|response to salt stress (GO:0009651)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					CTCCACCTCTCGAAACACCCT	0.507																																																	0								ENSG00000079277						254.0	183.0	207.0					1																	47042283		2203	4300	6503	MKNK1	SO:0001583	missense	0			-	HGNC	AB000409	CCDS538.1, CCDS30705.1, CCDS44134.1	1p33	2008-02-05			ENSG00000079277	ENSG00000079277			7110	protein-coding gene	gene with protein product		606724				9155018	Standard	NM_003684		Approved	MNK1	uc001cqb.4	Q9BUB5	OTTHUMG00000007983	ENST00000371946.4:c.278G>T	1.37:g.47042283C>A	ENSP00000361014:p.Arg93Leu	Somatic	0	31	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	D3DQ20|D3DQ21|O00312|Q5TC06|Q5TC07|Q6V0N6	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	p.E23*	ENST00000371946.4	37	c.67	CCDS538.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.018371|6.018371	0.97205|0.97205	.|.	.|.	ENSG00000079277|ENSG00000079277	ENST00000371944|ENST00000371946;ENST00000371945;ENST00000341183;ENST00000428112;ENST00000532783;ENST00000496619;ENST00000528237;ENST00000545730;ENST00000529170;ENST00000531769	.|T;T;T;T;T;T;T;T;T;T	.|0.45276	.|1.9;1.9;1.9;1.9;0.9;1.65;0.9;3.12;0.9;0.9	5.3|5.3	5.3|5.3	0.74995|0.74995	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.65228	.|0.2671	M|M	0.75150|0.75150	2.29|2.29	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|0.999;0.994;0.993;1.0;0.992	.|D;D;P;D;D	.|0.79784	.|0.988;0.923;0.875;0.993;0.922	.|T	.|0.67624	.|-0.5623	.|10	0.87932|0.72032	D|D	0|0.01	.|.	16.5102|16.5102	0.84282|0.84282	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|93;93;93;93;93	.|B4E1V9;A8K341;Q9BUB5-3;Q9BUB5-2;Q9BUB5	.|.;.;.;.;MKNK1_HUMAN	X|L	23|93;93;93;93;81;93;87;93;93;93	.|ENSP00000361014:R93L;ENSP00000361013:R93L;ENSP00000339573:R93L;ENSP00000411135:R93L;ENSP00000431837:R81L;ENSP00000436709:R93L;ENSP00000432665:R87L;ENSP00000440974:R93L;ENSP00000435163:R93L;ENSP00000434021:R93L	ENSP00000361012:E23X|ENSP00000339573:R93L	E|R	-|-	1|2	0|0	MKNK1|MKNK1	46814870|46814870	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.994000|0.994000	0.84299|0.84299	5.587000|5.587000	0.67510|0.67510	2.775000|2.775000	0.95449|0.95449	0.585000|0.585000	0.79938|0.79938	GAG|CGA	-	smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom		0.507	MKNK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKNK1	protein_coding	OTTHUMT00000021897.2	C	NM_003684	-		47042283	-1	no_errors	ENST00000371944	ensembl	human	known	74_37	nonsense	SNP	1.000	A
TPTE2P6	374491	genome.wustl.edu	37	13	25171259	25171259	+	RNA	SNP	A	A	T			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr13:25171259A>T	ENST00000453498.1	+	0	1264				TPTE2P6_ENST00000440905.1_RNA																							TAGATATTTTATTAAACTTGG	0.313																																																	0								ENSG00000243008																																			RP11-556N21.1			0			-	Clone_based_vega_gene																													13.37:g.25171259A>T		Somatic	0	47	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	29	23.68		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000453498.1	37	NULL		13																																																																																			-	-		0.313	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	ENSG00000243008	processed_transcript	OTTHUMT00000044193.1	A		-		25171259	+1	no_errors	ENST00000453498	ensembl	human	known	74_37	rna	SNP	0.437	T
PMM1	5372	genome.wustl.edu	37	22	41985119	41985119	+	Intron	SNP	G	G	T			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr22:41985119G>T	ENST00000216259.7	-	1	172				PMM1_ENST00000466645.1_Intron	NM_002676.2	NP_002667.2	Q92871	PMM1_HUMAN	phosphomannomutase 1						cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|mannose biosynthetic process (GO:0019307)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	metal ion binding (GO:0046872)|phosphomannomutase activity (GO:0004615)			NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						ACATCCGGGTGGGTAGAGCTC	0.512																																																	0								ENSG00000100417																																			PMM1	SO:0001627	intron_variant	0			-	HGNC		CCDS14020.1	22q13	2008-12-01			ENSG00000100417	ENSG00000100417	5.4.2.8		9114	protein-coding gene	gene with protein product	"""brain glucose-1,6-bisphosphatase"""	601786				9070917, 9271215	Standard	NM_002676		Approved	Sec53	uc003bal.2	Q92871	OTTHUMG00000150972	ENST00000216259.7:c.87+603C>A	22.37:g.41985119G>T		Somatic	0	31	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	15	21.05	A8K003|Q92586	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	superfamily_HAD-like_dom	p.H46N	ENST00000216259.7	37	c.136	CCDS14020.1	22																																																																																			-	NULL		0.512	PMM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMM1	protein_coding	OTTHUMT00000320711.3	G	NM_002676	-		41985119	-1	no_errors	ENST00000414636	ensembl	human	known	74_37	missense	SNP	0.000	T
NDFIP1	80762	genome.wustl.edu	37	5	141511526	141511526	+	Intron	DEL	A	A	-	rs556414620		TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr5:141511526delA	ENST00000253814.4	+	2	621				NDFIP1_ENST00000509436.1_3'UTR	NM_030571.3	NP_085048.1	Q9BT67	NFIP1_HUMAN	Nedd4 family interacting protein 1						cellular iron ion homeostasis (GO:0006879)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of protein transport (GO:0051224)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transporter activity (GO:0032410)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein ubiquitination (GO:0031398)|regulation of isotype switching to IgG isotypes (GO:0048302)|regulation of lymphocyte differentiation (GO:0045619)|regulation of myeloid leukocyte differentiation (GO:0002761)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cell cortex (GO:0005938)|endosome (GO:0005768)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	signal transducer activity (GO:0004871)			large_intestine(3)|lung(1)|ovary(1)	5		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTACAGTTTAAAAAAAAAAA	0.393																																																	0								ENSG00000131507																																			NDFIP1	SO:0001627	intron_variant	0				HGNC	BC004317	CCDS4273.1	5q31.3	2008-02-05			ENSG00000131507	ENSG00000131507			17592	protein-coding gene	gene with protein product		612050				11042109, 11748237	Standard	NM_030571		Approved	N4WBP5, MGC10924	uc003lmi.4	Q9BT67	OTTHUMG00000129659	ENST00000253814.4:c.151+66A>-	5.37:g.141511526delA		Somatic	0	11	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	14	22.22	B2RDB8|D3DQF0|Q658T8|Q8N2E3|Q8N2F9	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000253814.4	37	NULL	CCDS4273.1	5																																																																																			-	-		0.393	NDFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDFIP1	protein_coding	OTTHUMT00000251859.2	A	NM_030571			141511526	+1	no_errors	ENST00000509436	ensembl	human	known	74_37	rna	DEL	0.000	-
KPNB1	3837	genome.wustl.edu	37	17	45750492	45750492	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr17:45750492G>T	ENST00000290158.4	+	13	2063	c.1656G>T	c.(1654-1656)ttG>ttT	p.L552F	KPNB1_ENST00000537679.1_Missense_Mutation_p.L336F|KPNB1_ENST00000540627.1_Missense_Mutation_p.L407F|KPNB1_ENST00000535458.2_Missense_Mutation_p.L407F	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	552					apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cytokine-mediated signaling pathway (GO:0019221)|intracellular transport of virus (GO:0075733)|NLS-bearing protein import into nucleus (GO:0006607)|protein import into nucleus (GO:0006606)|protein import into nucleus, translocation (GO:0000060)|ribosomal protein import into nucleus (GO:0006610)|small molecule metabolic process (GO:0044281)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)	p.L552F(1)		breast(1)|ovary(1)|pancreas(1)|skin(1)	4						AAACGACTTTGGTCATCATGG	0.463																																																	1	Substitution - Missense(1)	endometrium(1)						ENSG00000108424						125.0	119.0	121.0					17																	45750492		2203	4300	6503	KPNB1	SO:0001583	missense	0			-	HGNC	L39793	CCDS11513.1, CCDS62228.1	17q21.32	2013-02-14			ENSG00000108424	ENSG00000108424		"""Importins"", ""Armadillo repeat containing"""	6400	protein-coding gene	gene with protein product	"""importin 1"""	602738				7615630, 7627554	Standard	NM_002265		Approved	NTF97, IPOB, MGC2155, MGC2156, MGC2157, IMB1, Impnb, IPO1	uc002ilt.2	Q14974	OTTHUMG00000036957	ENST00000290158.4:c.1656G>T	17.37:g.45750492G>T	ENSP00000290158:p.Leu552Phe	Somatic	0	49	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	54	8.47	B7ZAV6|D3DTT3|Q14637|Q53XN2|Q96J27	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_HEAT,pfam_Importin-beta_N,pfam_Armadillo,superfamily_ARM-type_fold,smart_Importin-beta_N,smart_Armadillo,pfscan_HEAT_type_2,pfscan_Importin-beta_N	p.L552F	ENST00000290158.4	37	c.1656	CCDS11513.1	17	.	.	.	.	.	.	.	.	.	.	G	12.93	2.085870	0.36758	.	.	ENSG00000108424	ENST00000535458;ENST00000290158;ENST00000540627;ENST00000537679	T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3	5.52	-2.18	0.07037	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.52805	0.1757	L	0.50333	1.59	0.38797	D	0.955109	P;P	0.46784	0.884;0.776	B;B	0.40782	0.34;0.198	T	0.60301	-0.7290	9	0.56958	D	0.05	-16.5928	7.3697	0.26794	0.4933:0.1129:0.3938:0.0	.	336;552	F5H4R7;Q14974	.;IMB1_HUMAN	F	407;552;407;336	ENSP00000438253:L407F;ENSP00000290158:L552F;ENSP00000438964:L407F;ENSP00000445006:L336F	ENSP00000290158:L552F	L	+	3	2	KPNB1	43105491	1.000000	0.71417	0.930000	0.37139	0.990000	0.78478	1.490000	0.35573	-0.010000	0.14271	0.655000	0.94253	TTG	-	superfamily_ARM-type_fold		0.463	KPNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNB1	protein_coding	OTTHUMT00000089755.2	G	NM_002265	-		45750492	+1	no_errors	ENST00000290158	ensembl	human	known	74_37	missense	SNP	0.952	T
FAM115C	285966	genome.wustl.edu	37	7	143417912	143417912	+	Intron	SNP	C	C	T			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr7:143417912C>T	ENST00000441159.2	+	3	1681				FAM115C_ENST00000409703.3_Silent_p.V379V|FAM115C_ENST00000411935.1_Silent_p.V379V|FAM115C_ENST00000425618.2_Intron|FAM115C_ENST00000411497.2_Intron|FAM115C_ENST00000357344.4_Intron|FAM115C_ENST00000444908.2_Intron			A6NFQ2	F115C_HUMAN	family with sequence similarity 115, member C						hematopoietic progenitor cell differentiation (GO:0002244)					endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						ctcactctgtcatccaggttg	0.488																																																	0								ENSG00000170379																																			FAM115C	SO:0001627	intron_variant	0			-	HGNC	AY167570	CCDS34769.1, CCDS47735.1, CCDS47735.2	7q35	2010-08-03	2008-06-12	2008-06-12	ENSG00000170379	ENSG00000170379			26878	protein-coding gene	gene with protein product			"""family with sequence similarity 139, member A"""	FAM139A			Standard	NM_173678		Approved	FLJ40722	uc003wdf.3	A6NFQ2	OTTHUMG00000153232	ENST00000441159.2:c.1615+145C>T	7.37:g.143417912C>T		Somatic	0	59	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	119	22	84.40	B4DK02|Q14D25|Q17RQ4|Q8IWQ0|Q8NF84	Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.V379	ENST00000441159.2	37	c.1137		7																																																																																			-	NULL		0.488	FAM115C-001	KNOWN	basic|appris_principal	protein_coding	FAM115C	protein_coding	OTTHUMT00000330287.1	C	NM_173678	-		143417912	+1	no_errors	ENST00000409703	ensembl	human	known	74_37	silent	SNP	0.092	T
RPP30	10556	genome.wustl.edu	37	10	92655547	92655547	+	Intron	SNP	G	G	T			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr10:92655547G>T	ENST00000371703.3	+	9	850				RPP30_ENST00000413330.1_Intron|RPP30_ENST00000489806.1_Intron	NM_006413.4	NP_006404.1	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit						RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ribonuclease P activity (GO:0004526)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						TTTTATTTTTGGATACTTAAA	0.224																																																	0								ENSG00000148688																																			RPP30	SO:0001627	intron_variant	0			-	HGNC	BC006991	CCDS7411.1, CCDS44458.1	10q23.32-q23.33	2012-05-21			ENSG00000148688	ENSG00000148688			17688	protein-coding gene	gene with protein product		606115				9037013, 9308968	Standard	NM_006413		Approved	TSG15	uc001khd.2	P78346	OTTHUMG00000018733	ENST00000371703.3:c.580-90G>T	10.37:g.92655547G>T		Somatic	0	43	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	B2R799|E9PB02	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000371703.3	37	NULL	CCDS7411.1	10																																																																																			-	-		0.224	RPP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPP30	protein_coding	OTTHUMT00000049347.1	G	NM_006413	-		92655547	+1	no_errors	ENST00000479678	ensembl	human	known	74_37	rna	SNP	0.000	T
OTOG	340990	genome.wustl.edu	37	11	17663399	17663399	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr11:17663399G>T	ENST00000399391.2	+	51	8232	c.8232G>T	c.(8230-8232)caG>caT	p.Q2744H	OTOG_ENST00000399397.1_Missense_Mutation_p.Q2671H	NM_001277269.1	NP_001264198.1	Q6ZRI0	OTOG_HUMAN	otogelin	2744					adult locomotory behavior (GO:0008344)|L-arabinose metabolic process (GO:0046373)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	alpha-L-arabinofuranosidase activity (GO:0046556)|structural molecule activity (GO:0005198)			breast(3)|central_nervous_system(1)|lung(1)|skin(1)	6						TGTAGAACCAGGAGTACGAGC	0.647																																																	0								ENSG00000188162																																			OTOG	SO:0001583	missense	0			-	HGNC	AK128214	CCDS59225.1	11p14.3	2014-07-17			ENSG00000188162	ENSG00000188162			8516	protein-coding gene	gene with protein product		604487				9405633	Standard	NM_001277269		Approved	mlemp, OTGN, FLJ46346	uc031pzc.1	Q6ZRI0	OTTHUMG00000149905	ENST00000399391.2:c.8232G>T	11.37:g.17663399G>T	ENSP00000382323:p.Gln2744His	Somatic	0	40	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	26	13.33	A8MTX6|A8MUJ0|B7WPC4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_AbfB,pfam_TIL_dom,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom	p.Q2744H	ENST00000399391.2	37	c.8232	CCDS59225.1	11	.	.	.	.	.	.	.	.	.	.	G	13.17	2.155775	0.38021	.	.	ENSG00000188162	ENST00000399391;ENST00000399397	T;T	0.18016	2.24;2.35	5.09	2.16	0.27623	.	0.000000	0.53938	U	0.000050	T	0.23370	0.0565	M	0.73962	2.25	0.44789	D	0.997791	.	.	.	.	.	.	T	0.04579	-1.0941	8	0.14656	T	0.56	.	6.4623	0.21964	0.3354:0.0:0.6646:0.0	.	.	.	.	H	2744;2671	ENSP00000382323:Q2744H;ENSP00000382329:Q2671H	ENSP00000382323:Q2744H	Q	+	3	2	OTOG	17619975	1.000000	0.71417	1.000000	0.80357	0.125000	0.20455	1.261000	0.32980	1.157000	0.42530	-0.671000	0.03813	CAG	-	NULL		0.647	OTOG-201	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOG	protein_coding		G		-		17663399	+1	no_errors	ENST00000399391	ensembl	human	known	74_37	missense	SNP	1.000	T
PKD1	5310	genome.wustl.edu	37	16	2159518	2159520	+	In_Frame_Del	DEL	CCG	CCG	-	rs370043391		TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	CCG	CCG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr16:2159518_2159520delCCG	ENST00000262304.4	-	15	5856_5858	c.5648_5650delCGG	c.(5647-5652)gcggag>gag	p.A1883del	PKD1_ENST00000423118.1_In_Frame_Del_p.A1883del|RP11-304L19.4_ENST00000568795.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1883	PKD 14. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ATGGGCTCCTCCGCCGTGAGGTT	0.64																																																	0								ENSG00000008710																																			PKD1	SO:0001651	inframe_deletion	0				HGNC	L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.5648_5650delCGG	16.37:g.2159521_2159523delCCG	ENSP00000262304:p.Ala1883del	Somatic	0	63	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	53	34.57	Q15140|Q15141	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat	p.A1883in_frame_del	ENST00000262304.4	37	c.5650_5648	CCDS32369.1	16																																																																																			-	superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom,tigrfam_Polycystin_cat		0.640	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	protein_coding	OTTHUMT00000341688.1	CCG				2159520	-1	no_errors	ENST00000262304	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000	-
GLB1L2	89944	genome.wustl.edu	37	11	134241002	134241002	+	Nonsense_Mutation	SNP	C	C	A	rs561326208	byFrequency	TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr11:134241002C>A	ENST00000535456.2	+	13	1504	c.1316C>A	c.(1315-1317)tCg>tAg	p.S439*	GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000339772.7_Nonsense_Mutation_p.S439*|GLB1L2_ENST00000389881.3_Nonsense_Mutation_p.S439*	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	439					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		AGCATCACCTCGTCTGGCATC	0.527																																																	0								ENSG00000149328						139.0	132.0	134.0					11																	134241002		2201	4297	6498	GLB1L2	SO:0001587	stop_gained	0			-	HGNC		CCDS31724.1	11q25	2008-01-29			ENSG00000149328	ENSG00000149328			25129	protein-coding gene	gene with protein product						12975309	Standard	NM_138342		Approved		uc001qhp.3	Q8IW92	OTTHUMG00000167179	ENST00000535456.2:c.1316C>A	11.37:g.134241002C>A	ENSP00000444628:p.Ser439*	Somatic	0	30	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	2	92.00	A6NCE6|Q6UX60|Q8NC62|Q8NCB3|Q8NCJ1|Q96HP3	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35	p.S439*	ENST00000535456.2	37	c.1316	CCDS31724.1	11	.	.	.	.	.	.	.	.	.	.	C	16.79	3.219224	0.58560	.	.	ENSG00000149328	ENST00000339772;ENST00000535456;ENST00000389881	.	.	.	5.77	1.54	0.23209	.	0.791393	0.11785	N	0.529800	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	-0.806	7.9231	0.29859	0.4021:0.372:0.2259:0.0	.	.	.	.	X	439	.	ENSP00000344659:S439X	S	+	2	0	GLB1L2	133746212	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	0.513000	0.22770	0.868000	0.35678	-1.014000	0.02459	TCG	-	NULL		0.527	GLB1L2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GLB1L2	protein_coding	OTTHUMT00000393629.2	C	NM_138342	-		134241002	+1	no_errors	ENST00000339772	ensembl	human	known	74_37	nonsense	SNP	0.000	A
MUC4	4585	genome.wustl.edu	37	3	195513948	195513948	+	Silent	SNP	G	G	A			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr3:195513948G>A	ENST00000463781.3	-	2	4962	c.4503C>T	c.(4501-4503)caC>caT	p.H1501H	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.H1501H	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0	VWFD. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGAGTGACGTGACCTGTGG	0.567																																																	0								ENSG00000145113						2.0	2.0	2.0					3																	195513948		387	998	1385	MUC4	SO:0001819	synonymous_variant	0			-	HGNC	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.4503C>T	3.37:g.195513948G>A		Somatic	0	42	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	29	38.30	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.H1501	ENST00000463781.3	37	c.4503	CCDS54700.1	3																																																																																			-	NULL		0.567	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	protein_coding	OTTHUMT00000324081.6	G	NM_018406	-		195513948	-1	no_errors	ENST00000463781	ensembl	human	known	74_37	silent	SNP	0.000	A
KIAA1109	84162	genome.wustl.edu	37	4	123175371	123175371	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr4:123175371G>A	ENST00000264501.4	+	38	6317	c.5944G>A	c.(5944-5946)Gat>Aat	p.D1982N	KIAA1109_ENST00000388738.3_Missense_Mutation_p.D1982N|KIAA1109_ENST00000455637.1_Missense_Mutation_p.D1982N			Q2LD37	K1109_HUMAN	KIAA1109	1982					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CGAATCTGATGATTTGAAAAA	0.368																																																	0								ENSG00000138688						119.0	107.0	111.0					4																	123175371		1850	4087	5937	KIAA1109	SO:0001583	missense	0			-	HGNC	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.5944G>A	4.37:g.123175371G>A	ENSP00000264501:p.Asp1982Asn	Somatic	0	53	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	43	14.00	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Fragile_site-assoc_C	p.D1982N	ENST00000264501.4	37	c.5944	CCDS43267.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.56|17.56	3.418879|3.418879	0.62622|0.62622	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637|ENST00000446180	T;T;T|.	0.24350|.	2.45;2.45;1.86|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.000000|.	0.52532|.	U|.	0.000080|.	T|T	0.68081|0.68081	0.2962|0.2962	L|L	0.44542|0.44542	1.39|1.39	0.58432|0.58432	D|D	0.999995|0.999995	D;D|.	0.67145|.	0.996;0.993|.	D;D|.	0.79784|.	0.993;0.984|.	T|T	0.63950|0.63950	-0.6521|-0.6521	10|5	0.15066|.	T|.	0.55|.	.|.	19.0871|19.0871	0.93209|0.93209	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1981;1982|.	Q2LD37-2;Q2LD37|.	.;K1109_HUMAN|.	N|I	1982|554	ENSP00000264501:D1982N;ENSP00000373390:D1982N;ENSP00000389925:D1982N|.	ENSP00000264501:D1982N|.	D|M	+|+	1|3	0|0	KIAA1109|KIAA1109	123394821|123394821	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.787000|9.787000	0.99055|0.99055	2.514000|2.514000	0.84764|0.84764	0.591000|0.591000	0.81541|0.81541	GAT|ATG	-	NULL		0.368	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	protein_coding	OTTHUMT00000316415.1	G	NM_020797	-		123175371	+1	no_errors	ENST00000264501	ensembl	human	known	74_37	missense	SNP	1.000	A
MAP4K5	11183	genome.wustl.edu	37	14	50952895	50952895	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr14:50952895T>C	ENST00000013125.4	-	4	502	c.184A>G	c.(184-186)Att>Gtt	p.I62V	MAP4K5_ENST00000557578.1_5'Flank	NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	62	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					TCTTGTTGAATCAAAGAAAAA	0.284																																																	0								ENSG00000012983						58.0	53.0	54.0					14																	50952895		1781	3979	5760	MAP4K5	SO:0001583	missense	0			-	HGNC	U77129		14q11.2-q21	2011-06-09				ENSG00000012983		"""Mitogen-activated protein kinase cascade / Kinase kinase kinase kinases"""	6867	protein-coding gene	gene with protein product	"""germinal center kinase-related"""	604923				9038372, 8274451	Standard	NM_198794		Approved	KHS1, GCKR, KHS	uc001wyb.3	Q9Y4K4		ENST00000013125.4:c.184A>G	14.37:g.50952895T>C	ENSP00000013125:p.Ile62Val	Somatic	0	23	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	32	33.33	Q8IYF6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom	p.I62V	ENST00000013125.4	37	c.184		14	.	.	.	.	.	.	.	.	.	.	T	13.72	2.321213	0.41096	.	.	ENSG00000012983	ENST00000013125;ENST00000557390	T;T	0.65549	-0.16;1.86	5.26	5.26	0.73747	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.66167	0.2762	N	0.17674	0.51	0.80722	D	1	B;D	0.53151	0.136;0.958	B;D	0.70716	0.173;0.97	T	0.67776	-0.5583	10	0.41790	T	0.15	.	14.8269	0.70120	0.0:0.0:0.0:1.0	.	62;62	B2R928;Q9Y4K4	.;M4K5_HUMAN	V	62	ENSP00000013125:I62V;ENSP00000451980:I62V	ENSP00000013125:I62V	I	-	1	0	MAP4K5	50022645	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.473000	0.60196	1.998000	0.58463	0.482000	0.46254	ATT	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.284	MAP4K5-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	MAP4K5	protein_coding	OTTHUMT00000410880.1	T	NM_006575	-		50952895	-1	no_errors	ENST00000013125	ensembl	human	known	74_37	missense	SNP	1.000	C
RB1	5925	genome.wustl.edu	37	13	48954327	48954328	+	Frame_Shift_Del	DEL	AT	AT	-	rs367661403		TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	AT	AT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr13:48954327_48954328delAT	ENST00000267163.4	+	16	1586_1587	c.1448_1449delAT	c.(1447-1449)catfs	p.H483fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	483	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)|p.H483fs*9(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AACATTTTTCATATGTCTTTAT	0.238		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	24	Whole gene deletion(15)|Unknown(8)|Deletion - Frameshift(1)	bone(11)|breast(5)|eye(2)|central_nervous_system(2)|adrenal_gland(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	GRCh37	CI030637|CI071455|CM016043	RB1	I|M		ENSG00000139687																																			RB1	SO:0001589	frameshift_variant	0	Familial Cancer Database			HGNC	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1448_1449delAT	13.37:g.48954329_48954330delAT	ENSP00000267163:p.His483fs	Somatic	0	33	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	2	92.59	A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like	p.M484fs	ENST00000267163.4	37	c.1448_1449	CCDS31973.1	13																																																																																			-	pfam_RB_A,superfamily_Cyclin-like		0.238	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	protein_coding	OTTHUMT00000044884.1	AT				48954328	+1	no_errors	ENST00000267163	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000	-
DAK	26007	genome.wustl.edu	37	11	61113888	61113888	+	Silent	SNP	C	C	T			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr11:61113888C>T	ENST00000394900.3	+	18	1870	c.1641C>T	c.(1639-1641)atC>atT	p.I547I	CYB561A3_ENST00000540317.1_5'Flank	NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	547	DhaL. {ECO:0000255|PROSITE- ProRule:PRU00813}.				carbohydrate phosphorylation (GO:0046835)|cellular carbohydrate metabolic process (GO:0044262)|glycerol metabolic process (GO:0006071)|innate immune response (GO:0045087)|regulation of innate immune response (GO:0045088)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|FAD-AMP lyase (cyclizing) activity (GO:0034012)|glycerone kinase activity (GO:0004371)|metal ion binding (GO:0046872)|triokinase activity (GO:0050354)			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						CCAGTTATATCAGCTCAGCAC	0.632																																																	0								ENSG00000149476						71.0	83.0	79.0					11																	61113888		2203	4299	6502	DAK	SO:0001819	synonymous_variant	0			-	HGNC		CCDS8003.1	11q12.2	2009-11-06	2006-04-04		ENSG00000149476	ENSG00000149476			24552	protein-coding gene	gene with protein product		615844	"""dihydroxyacetone kinase 2 homolog (yeast)"""				Standard	XM_005273898		Approved	DKFZP586B1621, NET45	uc001nre.3	Q3LXA3	OTTHUMG00000168076	ENST00000394900.3:c.1641C>T	11.37:g.61113888C>T		Somatic	0	22	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	23	50.00	Q2L9C1|Q53EQ9|Q9BVA7|Q9H895	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Dak1,pfam_DhaL_dom,superfamily_DhaL_dom,tigrfam_DhaK_ATP	p.I547	ENST00000394900.3	37	c.1641	CCDS8003.1	11																																																																																			-	pfam_DhaL_dom,superfamily_DhaL_dom,tigrfam_DhaK_ATP		0.632	DAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAK	protein_coding	OTTHUMT00000394425.4	C	NM_015533	-		61113888	+1	no_errors	ENST00000394900	ensembl	human	known	74_37	silent	SNP	1.000	T
WRAP53	55135	genome.wustl.edu	37	17	7592319	7592319	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr17:7592319C>T	ENST00000316024.5	+	1	2701	c.353C>T	c.(352-354)gCg>gTg	p.A118V	WRAP53_ENST00000431639.2_Missense_Mutation_p.A118V|WRAP53_ENST00000457584.2_Missense_Mutation_p.A118V|WRAP53_ENST00000534050.1_Missense_Mutation_p.A118V|TP53_ENST00000420246.2_5'Flank|WRAP53_ENST00000396463.2_Missense_Mutation_p.A118V|RP11-199F11.2_ENST00000571370.1_RNA|TP53_ENST00000269305.4_5'Flank|TP53_ENST00000455263.2_5'Flank|TP53_ENST00000445888.2_5'Flank			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	118					positive regulation of telomerase activity (GO:0051973)|telomere formation via telomerase (GO:0032203)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						GAAGAAGAAGCGAACGGGCCA	0.532																																																	0								ENSG00000141499						68.0	77.0	74.0					17																	7592319		2203	4300	6503	WRAP53	SO:0001583	missense	0			-	HGNC	AK001247, DQ431240	CCDS11119.1	17p13.1	2014-09-17	2009-02-16	2009-02-16	ENSG00000141499	ENSG00000141499		"""WD repeat domain containing"""	25522	protein-coding gene	gene with protein product	"""telomerase cajal body protein 1"", ""WD-encoding RNA antisense to p53"""	612661	"""WD repeat domain 79"""	WDR79		19179534, 19250907, 19571673, 19342896, 20494116, 21441950	Standard	NM_018081		Approved	FLJ10385, TCAB1	uc010vuh.2	Q9BUR4	OTTHUMG00000134323	ENST00000316024.5:c.353C>T	17.37:g.7592319C>T	ENSP00000324203:p.Ala118Val	Somatic	0	19	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	48	2	96.00	B3KPR9|D3DTQ4|Q08ET9|Q9NW09	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A118V	ENST00000316024.5	37	c.353	CCDS11119.1	17	.	.	.	.	.	.	.	.	.	.	C	12.53	1.966460	0.34659	.	.	ENSG00000141499	ENST00000431639;ENST00000316024;ENST00000457584;ENST00000396463;ENST00000534050	T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.78	5.41	0.942	0.19525	.	0.922668	0.09125	N	0.845143	T	0.23926	0.0579	N	0.03608	-0.345	0.09310	N	1	B;B	0.21147	0.0;0.052	B;B	0.12156	0.0;0.007	T	0.22661	-1.0210	10	0.15499	T	0.54	.	5.4443	0.16527	0.0:0.4808:0.3396:0.1795	.	118;118	E9PMG4;Q9BUR4	.;WAP53_HUMAN	V	118	ENSP00000397219:A118V;ENSP00000324203:A118V;ENSP00000411061:A118V;ENSP00000379727:A118V;ENSP00000434999:A118V	ENSP00000324203:A118V	A	+	2	0	WRAP53	7533044	0.001000	0.12720	0.014000	0.15608	0.124000	0.20399	-1.589000	0.02104	0.403000	0.25479	-0.244000	0.11960	GCG	-	NULL		0.532	WRAP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRAP53	protein_coding	OTTHUMT00000259385.2	C	NM_018081	-		7592319	+1	no_errors	ENST00000316024	ensembl	human	known	74_37	missense	SNP	0.000	T
SPECC1	92521	genome.wustl.edu	37	17	20209353	20209353	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr17:20209353G>T	ENST00000261503.5	+	14	3126	c.3075G>T	c.(3073-3075)ttG>ttT	p.L1025F	SPECC1_ENST00000395530.2_Missense_Mutation_p.L944F|SPECC1_ENST00000395527.4_Missense_Mutation_p.L1025F|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000536879.1_Missense_Mutation_p.L365F	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	1025	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		ATCTCTTGTTGGCATTTGAAG	0.353																																																	0								ENSG00000128487						151.0	145.0	147.0					17																	20209353		2203	4300	6503	SPECC1	SO:0001583	missense	0			-	HGNC	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.3075G>T	17.37:g.20209353G>T	ENSP00000261503:p.Leu1025Phe	Somatic	0	33	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	67	11.84	B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.L1025F	ENST00000261503.5	37	c.3075	CCDS32590.1	17	.	.	.	.	.	.	.	.	.	.	G	15.28	2.786076	0.49997	.	.	ENSG00000128487	ENST00000395530;ENST00000261503;ENST00000536879;ENST00000395527	D;D	0.96011	-3.88;-3.88	4.36	3.3	0.37823	Calponin homology domain (5);	0.183072	0.36740	N	0.002439	D	0.97281	0.9111	M	0.87328	2.875	0.54753	D	0.999983	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.96420	0.9311	10	0.87932	D	0	-6.978	7.2259	0.26016	0.1465:0.0:0.8535:0.0	.	986;944;1025	A8MV89;Q5M775-4;Q5M775	.;.;CYTSB_HUMAN	F	986;1025;365;944	ENSP00000261503:L1025F;ENSP00000438294:L365F	ENSP00000261503:L1025F	L	+	3	2	SPECC1	20149945	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	2.087000	0.41653	0.811000	0.34303	0.462000	0.41574	TTG	-	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.353	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	SPECC1	protein_coding	OTTHUMT00000441206.1	G	NM_152904	-		20209353	+1	no_errors	ENST00000261503	ensembl	human	known	74_37	missense	SNP	1.000	T
HP09025	100652929	genome.wustl.edu	37	17	77681427	77681427	+	lincRNA	SNP	T	T	C			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr17:77681427T>C	ENST00000397549.2	+	0	353				MIR4739_ENST00000577633.1_RNA																							CGCCAGGCCCTGGGCAGACAG	0.667																																																	0								ENSG00000214105																																			CTD-2116F7.1			0			-	Clone_based_vega_gene																													17.37:g.77681427T>C		Somatic	0	29	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	43	10.42		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000397549.2	37	NULL		17																																																																																			-	-		0.667	CTD-2116F7.1-001	KNOWN	basic	lincRNA	ENSG00000214105	lincRNA	OTTHUMT00000437037.1	T		-		77681427	+1	no_errors	ENST00000397549	ensembl	human	known	74_37	rna	SNP	0.000	C
LPP	4026	genome.wustl.edu	37	3	187896990	187896990	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr3:187896990T>C	ENST00000392468.2	+	1	660	c.19T>C	c.(19-21)Ttt>Ctt	p.F7L	LPP_ENST00000448637.1_Intron																kidney(1)	1						CTCCAAGGCTTTTGAATTTGC	0.522																																																	0								ENSG00000213132						53.0	48.0	49.0					3																	187896990		692	1591	2283	AC022498.1	SO:0001583	missense	0			-	Clone_based_ensembl_gene																												ENST00000392468.2:c.19T>C	3.37:g.187896990T>C	ENSP00000376261:p.Phe7Leu	Somatic	0	30	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	24	50.00		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.F7L	ENST00000392468.2	37	c.19		3	.	.	.	.	.	.	.	.	.	.	T	10.49	1.365362	0.24684	.	.	ENSG00000213132	ENST00000392468	.	.	.	4.02	1.66	0.24008	.	.	.	.	.	T	0.39436	0.1078	.	.	.	0.20074	N	0.999932	.	.	.	.	.	.	T	0.35649	-0.9780	5	0.87932	D	0	.	5.4247	0.16419	0.0:0.229:0.0:0.771	.	.	.	.	L	7	.	ENSP00000376261:F7L	F	+	1	0	AC022498.1	189379684	0.023000	0.18921	0.007000	0.13788	0.011000	0.07611	0.490000	0.22403	0.375000	0.24679	0.459000	0.35465	TTT	-	NULL		0.522	AC022498.1-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000213132	protein_coding		T		-		187896990	+1	no_errors	ENST00000392468	ensembl	human	known	74_37	missense	SNP	0.010	C
SHROOM4	57477	genome.wustl.edu	37	X	50350758	50350759	+	In_Frame_Ins	INS	-	-	TGCTGCTGCTGT	rs201922875|rs553160982		TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chrX:50350758_50350759insTGCTGCTGCTGT	ENST00000289292.7	-	6	3666_3667	c.3383_3384insACAGCAGCAGCA	c.(3382-3384)cag>caACAGCAGCAGCAg	p.1128_1128Q>QQQQQ	SHROOM4_ENST00000460112.3_In_Frame_Ins_p.1012_1012Q>QQQQQ|SHROOM4_ENST00000376020.2_In_Frame_Ins_p.1128_1128Q>QQQQQ			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1128	Gln-rich.				actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					cctgttgcttctgctgctgctg	0.589																																																	0								ENSG00000158352			12,1892,1813		0,4,5,3,450,721,267,412,263						-6.4	0.0			16	21,2147,4298		1,7,3,9,306,942,586,1095,1163	no	codingComplex	SHROOM4	NM_020717.3		1,11,8,12,756,1663,853,1507,1426	A1A1,A1A2,A1R,A1,A2A2,A2R,A2,RR,R		33.5292,49.0987,39.9882				33,4039,6111				SHROOM4	SO:0001652	inframe_insertion	0				HGNC	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3372_3383dupACAGCAGCAGCA	X.37:g.50350758_50350759insTGCTGCTGCTGT	ENSP00000289292:p.GlnGlnGlnGln1128dup	Somatic	NA	NA	NA		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	A7E2X9|D6RFW0|Q96LA0	In_Frame_Ins	INS	NA	NA	NA	NA	NA	NA	pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.1129in_frame_insQQQQ	ENST00000289292.7	37	c.3384_3383	CCDS35277.1	X																																																																																			-	NULL		0.589	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	SHROOM4	protein_coding	OTTHUMT00000056564.4	-	NM_020717			50350759	-1	no_errors	ENST00000289292	ensembl	human	known	74_37	in_frame_ins	INS	0.000:0.000	TGCTGCTGCTGT
CITED1	4435	genome.wustl.edu	37	X	71521928	71521928	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chrX:71521928G>T	ENST00000246139.5	-	3	802	c.227C>A	c.(226-228)cCt>cAt	p.P76H	CITED1_ENST00000431381.1_Missense_Mutation_p.P102H|CITED1_ENST00000373619.3_Missense_Mutation_p.P76H|CITED1_ENST00000445983.1_Missense_Mutation_p.P76H	NM_004143.3	NP_004134.2	Q99966	CITE1_HUMAN	Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1	76					apoptotic process (GO:0006915)|brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell proliferation (GO:0008283)|embryonic axis specification (GO:0000578)|labyrinthine layer development (GO:0060711)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|mesenchymal to epithelial transition (GO:0060231)|metanephros development (GO:0001656)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|pigmentation (GO:0043473)|placenta development (GO:0001890)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to estrogen (GO:0043627)|response to insulin (GO:0032868)|response to interferon-gamma (GO:0034341)|response to interleukin-1 (GO:0070555)|response to interleukin-11 (GO:0071105)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-6 (GO:0070741)|response to interleukin-9 (GO:0071104)|response to lipopolysaccharide (GO:0032496)|response to parathyroid hormone (GO:0071107)|response to transforming growth factor beta (GO:0071559)|SMAD protein signal transduction (GO:0060395)|spongiotrophoblast layer development (GO:0060712)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|co-SMAD binding (GO:0070410)|LBD domain binding (GO:0050693)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			skin(1)	1	Renal(35;0.156)					TTTAGTGGGAGGGGTGGTTGT	0.567																																																	0								ENSG00000125931						32.0	32.0	32.0					X																	71521928		2193	4283	6476	CITED1	SO:0001583	missense	0			-	HGNC	U65092	CCDS14419.1, CCDS48136.1	Xq13.1	2008-02-05			ENSG00000125931	ENSG00000125931			1986	protein-coding gene	gene with protein product		300149		MSG1		8901575, 9721210	Standard	NM_004143		Approved		uc011mqc.2	Q99966	OTTHUMG00000021812	ENST00000246139.5:c.227C>A	X.37:g.71521928G>T	ENSP00000246139:p.Pro76His	Somatic	0	46	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	53	11.67	B5BU50|B5BUI2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_CITED	p.P102H	ENST00000246139.5	37	c.305	CCDS14419.1	X	.	.	.	.	.	.	.	.	.	.	G	10.83	1.461447	0.26248	.	.	ENSG00000125931	ENST00000453707;ENST00000431381;ENST00000445983;ENST00000373619;ENST00000246139;ENST00000417400;ENST00000427412;ENST00000450875	T;T;T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19;-0.19;-0.19	5.07	4.2	0.49525	.	0.337664	0.25277	N	0.031836	T	0.61714	0.2369	M	0.64997	1.995	0.19300	N	0.999978	D;D	0.56287	0.969;0.975	B;P	0.47786	0.421;0.557	T	0.58405	-0.7642	10	0.72032	D	0.01	-0.7492	7.0485	0.25059	0.2109:0.0:0.7891:0.0	.	102;76	Q99966-2;Q99966	.;CITE1_HUMAN	H	102;102;76;76;76;76;102;102	ENSP00000401764:P102H;ENSP00000388548:P102H;ENSP00000403274:P76H;ENSP00000362721:P76H;ENSP00000246139:P76H;ENSP00000414781:P76H;ENSP00000391407:P102H	ENSP00000246139:P76H	P	-	2	0	CITED1	71438653	0.997000	0.39634	0.569000	0.28460	0.082000	0.17680	2.723000	0.47277	0.917000	0.36895	0.529000	0.55759	CCT	-	pfam_CITED		0.567	CITED1-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	CITED1	protein_coding	OTTHUMT00000057181.1	G	NM_004143	-		71521928	-1	no_errors	ENST00000431381	ensembl	human	known	74_37	missense	SNP	0.352	T
ZFR	51663	genome.wustl.edu	37	5	32355672	32355672	+	3'UTR	DEL	T	T	-	rs377173878		TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr5:32355672delT	ENST00000265069.8	-	0	3521				ZFR_ENST00000510369.1_5'UTR	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein						multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		TCGGAGCACATTTTTTTTTTT	0.328																																																	0								ENSG00000056097																																			ZFR	SO:0001624	3_prime_UTR_variant	0				HGNC	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.*194A>-	5.37:g.32355672delT		Somatic	0	27	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000265069.8	37	NULL	CCDS34139.1	5																																																																																			-	-		0.328	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFR	protein_coding	OTTHUMT00000366586.1	T				32355672	-1	no_errors	ENST00000510369	ensembl	human	known	74_37	rna	DEL	0.003	-
DMD	1756	genome.wustl.edu	37	X	31515003	31515003	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chrX:31515003G>A	ENST00000357033.4	-	57	8655	c.8449C>T	c.(8449-8451)Ctt>Ttt	p.L2817F	DMD_ENST00000359836.1_Missense_Mutation_p.L357F|DMD_ENST00000474231.1_Missense_Mutation_p.L357F|DMD_ENST00000541735.1_Missense_Mutation_p.L357F|DMD_ENST00000343523.2_Missense_Mutation_p.L357F|DMD_ENST00000378677.2_Missense_Mutation_p.L2813F|DMD_ENST00000445312.1_5'UTR|DMD_ENST00000378707.3_Missense_Mutation_p.L357F	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2817					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CACACCAGAAGTTCCTGCAGA	0.488																																																	0								ENSG00000198947						64.0	50.0	55.0					X																	31515003		2202	4300	6502	DMD	SO:0001583	missense	0			-	HGNC	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.8449C>T	X.37:g.31515003G>A	ENSP00000354923:p.Leu2817Phe	Somatic	0	35	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	32	44.83	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.L2817F	ENST00000357033.4	37	c.8449	CCDS14233.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.5|23.5	4.426941|4.426941	0.83667|0.83667	.|.	.|.	ENSG00000198947|ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000358062;ENST00000378677;ENST00000357033;ENST00000359836;ENST00000343523;ENST00000542849;ENST00000535280;ENST00000378707;ENST00000541735;ENST00000474231|ENST00000465285	T;T;T;T;T;T;T;T|.	0.42131|.	0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98|.	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	0.000000|.	0.33712|.	U|.	0.004637|.	T|T	0.72045|0.72045	0.3412|0.3412	L|L	0.55103|0.55103	1.725|1.725	0.54753|0.54753	D|D	0.999982|0.999982	P;P;D;P;P;P;P;P;B;P;D|.	0.71674|.	0.947;0.911;0.998;0.911;0.911;0.937;0.598;0.598;0.355;0.487;0.994|.	P;P;D;B;B;P;B;B;B;B;D|.	0.78314|.	0.901;0.532;0.991;0.402;0.402;0.742;0.325;0.325;0.092;0.189;0.943|.	T|T	0.68300|0.68300	-0.5445|-0.5445	10|5	0.66056|.	D|.	0.02|.	.|.	19.1264|19.1264	0.93386|0.93386	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2809;2817;2813;1476;1473;357;357;357;357;357;2694|.	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6;F8VX32;E7ESB2;E7EQS5;E7EQR9;F5GZY3;F5GZT3|.	.;DMD_HUMAN;.;.;.;.;.;.;.;.;.|.	F|I	2809;1476;1473;513;2813;2817;357;357;2817;2694;357;357;357|545	ENSP00000350765:L513F;ENSP00000367948:L2813F;ENSP00000354923:L2817F;ENSP00000352894:L357F;ENSP00000340057:L357F;ENSP00000367979:L357F;ENSP00000444119:L357F;ENSP00000417123:L357F|.	ENSP00000340057:L357F|.	L|T	-|-	1|2	0|0	DMD|DMD	31424924|31424924	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.963000|0.963000	0.63663|0.63663	7.920000|7.920000	0.87521|0.87521	2.466000|2.466000	0.83321|0.83321	0.594000|0.594000	0.82650|0.82650	CTT|ACT	-	smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin		0.488	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	protein_coding	OTTHUMT00000056182.2	G	NM_004006	-		31515003	-1	no_errors	ENST00000357033	ensembl	human	known	74_37	missense	SNP	1.000	A
GDPD2	54857	genome.wustl.edu	37	X	69646531	69646531	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chrX:69646531G>A	ENST00000374382.3	+	7	747	c.496G>A	c.(496-498)Gct>Act	p.A166T	GDPD2_ENST00000472623.1_Intron|GDPD2_ENST00000538649.1_Missense_Mutation_p.A87T|GDPD2_ENST00000536730.1_Missense_Mutation_p.A87T|GDPD2_ENST00000453994.2_Missense_Mutation_p.A166T	NM_017711.3	NP_060181.2	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	166					glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol inositolphosphodiesterase activity (GO:0047394)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					TGGAGCAGCCGCTGGAATTGC	0.617																																																	0								ENSG00000130055						45.0	37.0	40.0					X																	69646531		2203	4300	6503	GDPD2	SO:0001583	missense	0			-	HGNC	AK000214	CCDS14402.1, CCDS55437.1, CCDS55438.1	Xq13.1	2011-01-25			ENSG00000130055	ENSG00000130055			25974	protein-coding gene	gene with protein product	"""osteoblast differentiation promoting factor"""					12975309	Standard	NM_017711		Approved	OBDPF, FLJ20207, GDE3	uc011mpk.2	Q9HCC8	OTTHUMG00000021776	ENST00000374382.3:c.496G>A	X.37:g.69646531G>A	ENSP00000363503:p.Ala166Thr	Somatic	0	32	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	45	10.00	B4DRH4|B4DVC9|Q9NXJ6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl	p.A166T	ENST00000374382.3	37	c.496	CCDS14402.1	X	.	.	.	.	.	.	.	.	.	.	G	12.03	1.815455	0.32145	.	.	ENSG00000130055	ENST00000453994;ENST00000536730;ENST00000538649;ENST00000374382	T;T;T;T	0.22539	1.95;2.52;2.52;2.53	4.92	1.03	0.20045	.	0.492095	0.20385	N	0.093375	T	0.09686	0.0238	N	0.22421	0.69	0.09310	N	1	B;B;B	0.30605	0.287;0.107;0.123	B;B;B	0.20384	0.005;0.029;0.005	T	0.23655	-1.0182	9	.	.	.	-0.7823	4.8875	0.13710	0.3613:0.1519:0.4867:0.0	.	166;87;166	B4DVC9;B4DRH4;Q9HCC8	.;.;GDPD2_HUMAN	T	166;87;87;166	ENSP00000414019:A166T;ENSP00000445982:A87T;ENSP00000444601:A87T;ENSP00000363503:A166T	.	A	+	1	0	GDPD2	69563256	0.303000	0.24463	0.804000	0.32291	0.945000	0.59286	1.502000	0.35704	0.484000	0.27630	0.600000	0.82982	GCT	-	NULL		0.617	GDPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDPD2	protein_coding	OTTHUMT00000057070.1	G	NM_017711	-		69646531	+1	no_errors	ENST00000453994	ensembl	human	known	74_37	missense	SNP	0.024	A
FBXO9	26268	genome.wustl.edu	37	6	52957553	52957553	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr6:52957553C>T	ENST00000244426.6	+	8	996	c.824C>T	c.(823-825)aCa>aTa	p.T275I	FBXO9_ENST00000323557.7_Missense_Mutation_p.T265I|FBXO9_ENST00000370939.3_Missense_Mutation_p.T231I|RN7SL244P_ENST00000493405.2_RNA	NM_012347.4	NP_036479.1	Q9UK97	FBX9_HUMAN	F-box protein 9	275					fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|protein ubiquitination (GO:0016567)|regulation of TOR signaling (GO:0032006)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|large_intestine(4)|lung(1)|pancreas(2)|skin(1)	9	Lung NSC(77;0.103)					AGTAAAACCACATATATTCGT	0.333																																																	0								ENSG00000112146						73.0	64.0	67.0					6																	52957553		1812	4081	5893	FBXO9	SO:0001583	missense	0			-	HGNC	AF155114	CCDS55022.1, CCDS55023.1, CCDS55024.1	6p12.3-p11.2	2004-06-15	2004-06-15		ENSG00000112146	ENSG00000112146		"""F-boxes /  ""other"""""	13588	protein-coding gene	gene with protein product		609091	"""F-box only protein 9"""			10531035, 10531037	Standard	NM_012347		Approved	FBX9, NY-REN-57	uc021zao.1	Q9UK97	OTTHUMG00000014869	ENST00000244426.6:c.824C>T	6.37:g.52957553C>T	ENSP00000244426:p.Thr275Ile	Somatic	0	40	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	50	13.79	A6NFW3|B3KMM6|O75986|Q59EH8|Q6PKH7|Q9NT57|Q9Y593	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_F-box_dom,superfamily_F-box_dom,pfscan_F-box_dom	p.T275I	ENST00000244426.6	37	c.824	CCDS55023.1	6	.	.	.	.	.	.	.	.	.	.	C	15.64	2.892932	0.52121	.	.	ENSG00000112146	ENST00000370939;ENST00000323557;ENST00000244426	T;T;T	0.79352	-1.25;-1.25;-1.26	5.53	4.66	0.58398	F-box domain, Skp2-like (1);	0.098508	0.64402	N	0.000001	T	0.77110	0.4082	M	0.77616	2.38	0.51233	D	0.999911	P;P;P	0.51057	0.935;0.941;0.565	P;P;B	0.51453	0.591;0.67;0.205	T	0.80856	-0.1195	10	0.66056	D	0.02	-6.6212	10.7331	0.46109	0.1318:0.7988:0.0:0.0694	.	265;382;275	Q9UK97-2;Q59EH8;Q9UK97	.;.;FBX9_HUMAN	I	231;265;275	ENSP00000359977:T231I;ENSP00000326968:T265I;ENSP00000244426:T275I	ENSP00000244426:T275I	T	+	2	0	FBXO9	53065512	1.000000	0.71417	0.613000	0.29037	0.942000	0.58702	4.707000	0.61852	1.462000	0.47948	0.563000	0.77884	ACA	-	superfamily_F-box_dom		0.333	FBXO9-002	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	FBXO9	protein_coding	OTTHUMT00000040950.3	C		-		52957553	+1	no_errors	ENST00000244426	ensembl	human	known	74_37	missense	SNP	0.896	T
PRDM2	7799	genome.wustl.edu	37	1	14106018	14106018	+	Silent	SNP	T	T	G			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr1:14106018T>G	ENST00000235372.7	+	8	2584	c.1728T>G	c.(1726-1728)acT>acG	p.T576T	PRDM2_ENST00000413440.1_Silent_p.T375T|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000343137.4_Silent_p.T375T|PRDM2_ENST00000311066.5_Silent_p.T576T|PRDM2_ENST00000503842.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	576					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AAATTCAAACTAATAACAACA	0.373																																																	0								ENSG00000116731						48.0	51.0	50.0					1																	14106018		2203	4300	6503	PRDM2	SO:0001819	synonymous_variant	0			-	HGNC	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.1728T>G	1.37:g.14106018T>G		Somatic	0	25	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	26	45.83	B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2	p.T576	ENST00000235372.7	37	c.1728	CCDS150.1	1																																																																																			-	pirsf_RIZ_retinblastoma-bd_prot		0.373	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM2	protein_coding	OTTHUMT00000021792.2	T	NM_012231	-		14106018	+1	no_errors	ENST00000235372	ensembl	human	known	74_37	silent	SNP	1.000	G
CDK5R1	8851	genome.wustl.edu	37	17	30815538	30815538	+	Silent	SNP	G	G	T			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr17:30815538G>T	ENST00000313401.3	+	2	1589	c.900G>T	c.(898-900)cgG>cgT	p.R300R		NM_003885.2	NP_003876.1	Q15078	CD5R1_HUMAN	cyclin-dependent kinase 5, regulatory subunit 1 (p35)	300					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|brain development (GO:0007420)|cell proliferation (GO:0008283)|cerebellum development (GO:0021549)|embryo development (GO:0009790)|ephrin receptor signaling pathway (GO:0048013)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|hippocampus development (GO:0021766)|ionotropic glutamate receptor signaling pathway (GO:0035235)|layer formation in cerebral cortex (GO:0021819)|negative regulation of axon extension (GO:0030517)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron cell-cell adhesion (GO:0007158)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein targeting to membrane (GO:0090314)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of neuron differentiation (GO:0045664)|rhythmic process (GO:0048511)|serine phosphorylation of STAT3 protein (GO:0033136)|superior olivary nucleus maturation (GO:0021722)	axon (GO:0030424)|contractile fiber (GO:0043292)|cyclin-dependent protein kinase 5 holoenzyme complex (GO:0016533)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|cyclin-dependent protein kinase 5 activator activity (GO:0016534)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activator activity (GO:0043539)			cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.0938)			ACAAGAAGCGGCTCCTCCTAG	0.478																																																	0								ENSG00000176749						52.0	55.0	54.0					17																	30815538		2203	4300	6503	CDK5R1	SO:0001819	synonymous_variant	0			-	HGNC	X80343	CCDS11273.1	17q12	2006-03-28			ENSG00000176749	ENSG00000176749			1775	protein-coding gene	gene with protein product		603460				8090221	Standard	NM_003885		Approved	p35nck5a, Nck5a	uc002hhn.3	Q15078	OTTHUMG00000132814	ENST00000313401.3:c.900G>T	17.37:g.30815538G>T		Somatic	0	49	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	50	9.09	E1P664|Q5U0G3	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_CDK5_activator,superfamily_Cyclin-like,pirsf_CDK5_activator	p.R300	ENST00000313401.3	37	c.900	CCDS11273.1	17																																																																																			-	pirsf_CDK5_activator		0.478	CDK5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK5R1	protein_coding	OTTHUMT00000256264.1	G	NM_003885	-		30815538	+1	no_errors	ENST00000313401	ensembl	human	known	74_37	silent	SNP	1.000	T
IPO9	55705	genome.wustl.edu	37	1	201821260	201821260	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr1:201821260G>T	ENST00000361565.4	+	5	612	c.543G>T	c.(541-543)caG>caT	p.Q181H	IPO9_ENST00000464348.1_3'UTR	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	181					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						CAGACACACAGATGCCACTTG	0.363																																																	0								ENSG00000198700						107.0	103.0	105.0					1																	201821260		2203	4300	6503	IPO9	SO:0001583	missense	0			-	HGNC	AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"""Importins"""	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.543G>T	1.37:g.201821260G>T	ENSP00000354742:p.Gln181His	Somatic	0	35	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.Q181H	ENST00000361565.4	37	c.543	CCDS1415.1	1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286725	0.80803	.	.	ENSG00000198700	ENST00000361565	T	0.67865	-0.29	5.93	3.75	0.43078	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.76898	0.4052	M	0.73598	2.24	0.80722	D	1	D	0.76494	0.999	D	0.67725	0.953	T	0.77239	-0.2661	10	0.52906	T	0.07	-5.8877	8.1739	0.31270	0.2594:0.0:0.7406:0.0	.	181	Q96P70	IPO9_HUMAN	H	181	ENSP00000354742:Q181H	ENSP00000354742:Q181H	Q	+	3	2	IPO9	200087883	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.086000	0.57664	1.523000	0.49018	0.557000	0.71058	CAG	-	superfamily_ARM-type_fold		0.363	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO9	protein_coding	OTTHUMT00000087088.1	G	NM_018085	-		201821260	+1	no_errors	ENST00000361565	ensembl	human	known	74_37	missense	SNP	1.000	T
SCN2A	6326	genome.wustl.edu	37	2	166245346	166245346	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr2:166245346T>A	ENST00000375437.2	+	27	5320	c.5030T>A	c.(5029-5031)tTt>tAt	p.F1677Y	SCN2A_ENST00000375427.2_Missense_Mutation_p.F1677Y|SCN2A_ENST00000283256.6_Missense_Mutation_p.F1677Y|SCN2A_ENST00000357398.3_Missense_Mutation_p.F1677Y	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1677					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TACGCCATCTTTGGGATGTCC	0.463																																																	0								ENSG00000136531						191.0	181.0	184.0					2																	166245346		2203	4300	6503	SCN2A	SO:0001583	missense	0			-	HGNC	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.5030T>A	2.37:g.166245346T>A	ENSP00000364586:p.Phe1677Tyr	Somatic	0	83	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	114	121	48.51	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.F1677Y	ENST00000375437.2	37	c.5030	CCDS33314.1	2	.	.	.	.	.	.	.	.	.	.	T	18.63	3.665056	0.67700	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.98617	-5.03;-5.03;-5.03;-5.03	5.5	5.5	0.81552	Ion transport (1);	0.000000	0.64402	D	0.000002	D	0.99272	0.9746	M	0.91140	3.18	0.58432	D	0.999999	D;P	0.69078	0.997;0.801	D;P	0.72982	0.979;0.797	D	0.99087	1.0839	10	0.87932	D	0	.	15.9562	0.79889	0.0:0.0:0.0:1.0	.	1677;1677	Q99250-2;Q99250	.;SCN2A_HUMAN	Y	1677	ENSP00000364586:F1677Y;ENSP00000349973:F1677Y;ENSP00000283256:F1677Y;ENSP00000364576:F1677Y	ENSP00000283256:F1677Y	F	+	2	0	SCN2A	165953592	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.994000	0.88315	2.227000	0.72691	0.524000	0.50904	TTT	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel		0.463	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	protein_coding	OTTHUMT00000102659.2	T	NM_021007	-		166245346	+1	no_errors	ENST00000283256	ensembl	human	known	74_37	missense	SNP	1.000	A
PI4KA	5297	genome.wustl.edu	37	22	21084191	21084191	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr22:21084191G>T	ENST00000572273.1	-	37	4453	c.4223C>A	c.(4222-4224)tCc>tAc	p.S1408Y	PI4KA_ENST00000414196.3_Missense_Mutation_p.S218Y|PI4KA_ENST00000255882.6_Missense_Mutation_p.S1466Y			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1408					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TGATTTCTTGGAGATGGTGGA	0.557																																					GBM(136;1332 1831 3115 23601 50806)												0								ENSG00000241973						97.0	70.0	79.0					22																	21084191		2203	4300	6503	PI4KA	SO:0001583	missense	0			-	HGNC	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.4223C>A	22.37:g.21084191G>T	ENSP00000458238:p.Ser1408Tyr	Somatic	0	32	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	Q7Z625|Q9UPG2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.S1466Y	ENST00000572273.1	37	c.4397		22	.	.	.	.	.	.	.	.	.	.	G	23.2	4.381607	0.82792	.	.	ENSG00000241973	ENST00000255882;ENST00000414196	T	0.78924	-1.22	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.80330	0.4603	M	0.77103	2.36	0.80722	D	1	P	0.39044	0.656	B	0.37387	0.248	D	0.83514	0.0082	10	0.87932	D	0	-29.063	19.29	0.94095	0.0:0.0:1.0:0.0	.	1408	P42356	PI4KA_HUMAN	Y	1408;218	ENSP00000402981:S218Y	ENSP00000255882:S1408Y	S	-	2	0	PI4KA	19414191	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	9.723000	0.98772	2.569000	0.86673	0.563000	0.77884	TCC	-	NULL		0.557	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	PI4KA	protein_coding		G	NM_058004	-		21084191	-1	no_errors	ENST00000255882	ensembl	human	known	74_37	missense	SNP	1.000	T
HPDL	84842	genome.wustl.edu	37	1	45793456	45793456	+	Silent	SNP	G	G	T	rs144274967	byFrequency	TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr1:45793456G>T	ENST00000334815.3	+	1	912	c.636G>T	c.(634-636)ctG>ctT	p.L212L		NM_032756.2	NP_116145.1	Q96IR7	HPDL_HUMAN	4-hydroxyphenylpyruvate dioxygenase-like	212					aromatic amino acid family metabolic process (GO:0009072)		4-hydroxyphenylpyruvate dioxygenase activity (GO:0003868)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(166;0.155)					TTGGGGGACTGAGGCTTACAG	0.647																																																	0								ENSG00000186603						41.0	44.0	43.0					1																	45793456		2203	4300	6503	HPDL	SO:0001819	synonymous_variant	0			-	HGNC	BC007293	CCDS519.1	1p34.1	2008-02-05	2007-03-14	2007-03-14	ENSG00000186603	ENSG00000186603			28242	protein-coding gene	gene with protein product			"""glyoxalase domain containing 1"""	GLOXD1		12477932	Standard	NM_032756		Approved	MGC15668, 4-HPPD-L	uc001cne.3	Q96IR7	OTTHUMG00000007681	ENST00000334815.3:c.636G>T	1.37:g.45793456G>T		Somatic	0	32	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	B2R9B0	Silent	SNP	NA	NA	NA	NA	NA	NA	pirsf_4OHPhenylPyrv_dOase	p.L212	ENST00000334815.3	37	c.636	CCDS519.1	1																																																																																			-	pirsf_4OHPhenylPyrv_dOase		0.647	HPDL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPDL	protein_coding	OTTHUMT00000020527.1	G	NM_032756	-		45793456	+1	no_errors	ENST00000334815	ensembl	human	known	74_37	silent	SNP	0.810	T
AUTS2	26053	genome.wustl.edu	37	7	70254924	70254924	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr7:70254924G>T	ENST00000342771.4	+	19	3043	c.2722G>T	c.(2722-2724)Gag>Tag	p.E908*	AUTS2_ENST00000406775.2_Nonsense_Mutation_p.E884*	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	908										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GGCCGCCGACGAGCACAAGGC	0.672																																																	0								ENSG00000158321						31.0	31.0	31.0					7																	70254924		2200	4300	6500	AUTS2	SO:0001587	stop_gained	0			-	HGNC	AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.2722G>T	7.37:g.70254924G>T	ENSP00000344087:p.Glu908*	Somatic	0	20	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	23	17.86	A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	prints_AUTS2	p.E908*	ENST00000342771.4	37	c.2722	CCDS5539.1	7	.	.	.	.	.	.	.	.	.	.	G	42	9.270267	0.99120	.	.	ENSG00000158321	ENST00000406775;ENST00000342771	.	.	.	4.28	4.28	0.50868	.	0.201130	0.51477	D	0.000088	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-21.6153	16.9403	0.86216	0.0:0.0:1.0:0.0	.	.	.	.	X	884;908	.	.	E	+	1	0	AUTS2	69892860	1.000000	0.71417	0.934000	0.37439	0.951000	0.60555	9.314000	0.96306	2.223000	0.72356	0.655000	0.94253	GAG	-	NULL		0.672	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AUTS2	protein_coding	OTTHUMT00000251971.2	G		-		70254924	+1	no_errors	ENST00000342771	ensembl	human	known	74_37	nonsense	SNP	0.999	T
RHPN2	85415	genome.wustl.edu	37	19	33487092	33487092	+	Silent	SNP	G	G	A	rs374714452		TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr19:33487092G>A	ENST00000254260.3	-	11	1295	c.1260C>T	c.(1258-1260)caC>caT	p.H420H	RHPN2_ENST00000400226.4_Silent_p.H269H	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	420	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					CCGACTCCTCGTGATGAGCCA	0.617																																																	0								ENSG00000131941	G		1,4405	2.1+/-5.4	0,1,2202	51.0	48.0	49.0		1260	2.4	1.0	19		49	0,8600		0,0,4300	no	coding-synonymous	RHPN2	NM_033103.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		420/687	33487092	1,13005	2203	4300	6503	RHPN2	SO:0001819	synonymous_variant	0			-	HGNC	AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.1260C>T	19.37:g.33487092G>A		Somatic	0	28	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	37	22.92	B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_BRO1_dom,pfam_HR1_rho-bd,superfamily_HR1_rho-bd,superfamily_PDZ,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom	p.H420	ENST00000254260.3	37	c.1260	CCDS12427.1	19																																																																																			-	pfam_BRO1_dom,pfscan_BRO1_dom		0.617	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHPN2	protein_coding	OTTHUMT00000450828.2	G	NM_033103	-		33487092	-1	no_errors	ENST00000254260	ensembl	human	known	74_37	silent	SNP	1.000	A
PLCZ1	89869	genome.wustl.edu	37	12	18854541	18854552	+	In_Frame_Del	DEL	TCCTCCTCCTCC	TCCTCCTCCTCC	-	rs71064021|rs11279217|rs531863439|rs76947474		TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	TCCTCCTCCTCC	TCCTCCTCCTCC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr12:18854541_18854552delTCCTCCTCCTCC	ENST00000538330.1	-	5	627_638	c.246_257delGGAGGAGGAGGA	c.(244-258)gaggaggaggaggat>gat	p.EEEE82del	PLCZ1_ENST00000435379.1_Intron|PLCZ1_ENST00000539875.1_Intron|PLCZ1_ENST00000541695.1_Intron|PLCZ1_ENST00000542762.1_Intron|PLCZ1_ENST00000447925.2_Intron|PLCZ1_ENST00000266505.7_Intron					phospholipase C, zeta 1											NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					TTTGAATTTAtcctcctcctcctcctcctcct	0.439																																																	0								ENSG00000139151																																			PLCZ1	SO:0001651	inframe_deletion	0				HGNC	AY035866	CCDS8680.1	12p13.31	2013-01-10			ENSG00000139151	ENSG00000139151	3.1.4.11	"""EF-hand domain containing"""	19218	protein-coding gene	gene with protein product		608075				12117804	Standard	NM_033123		Approved	NYD-SP27, PLCzeta	uc021qvx.2	Q86YW0	OTTHUMG00000168937	ENST00000538330.1:c.246_257delGGAGGAGGAGGA	12.37:g.18854541_18854552delTCCTCCTCCTCC	ENSP00000445880:p.Glu82_Glu85del	Somatic	NA	NA	NA		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA		In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_PLipase_C_Pinositol-sp_Y,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.EEEE82in_frame_del	ENST00000538330.1	37	c.257_246		12																																																																																			-	superfamily_PLC-like_Pdiesterase_TIM-brl		0.439	PLCZ1-002	PUTATIVE	basic|exp_conf	protein_coding	PLCZ1	protein_coding	OTTHUMT00000401666.3	TCCTCCTCCTCC	NM_033123			18854552	-1	no_errors	ENST00000538330	ensembl	human	putative	74_37	in_frame_del	DEL	0.019:0.025:0.029:0.032:0.034:0.034:0.032:0.029:0.024:0.025:0.024:0.021	-
CWC15	51503	genome.wustl.edu	37	11	94696474	94696475	+	5'UTR	INS	-	-	A	rs58293261		TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr11:94696474_94696475insA	ENST00000545018.1	-	0	886_887				CWC15_ENST00000279839.6_3'UTR			Q9P013	CWC15_HUMAN	CWC15 spliceosome-associated protein						mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)						Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CAGGGGAAAAGAAAAAAAAAAC	0.307																																																	0								ENSG00000150316																																			CWC15	SO:0001623	5_prime_UTR_variant	0				HGNC	AF161497	CCDS73369.1	11q21	2014-07-03	2014-07-03			ENSG00000150316			26939	protein-coding gene	gene with protein product			"""CWC15 homolog (S. cerevisiae)"", ""CWC15 spliceosome-associated protein homolog (S. cerevisiae)"""			10873569, 11884590	Standard	NM_016403		Approved	C11orf5, HSPC148, Cwf15, AD002	uc001pfd.4	Q9P013		ENST00000545018.1:c.-689->T	11.37:g.94696484_94696484dupA		Somatic	0	19	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	12	47.83	B2RC17|Q05BV9|Q05DM1|Q9UI29	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000545018.1	37	NULL		11																																																																																			-	-		0.307	CWC15-001	KNOWN	basic	processed_transcript	CWC15	protein_coding	OTTHUMT00000396686.2	-	NM_016403			94696475	-1	no_errors	ENST00000545018	ensembl	human	known	74_37	rna	INS	0.000:0.000	A
PLXNB3	5365	genome.wustl.edu	37	X	153038688	153038688	+	Silent	SNP	G	G	T			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chrX:153038688G>T	ENST00000361971.5	+	18	3024	c.2910G>T	c.(2908-2910)ctG>ctT	p.L970L	PLXNB3_ENST00000538776.1_Silent_p.L623L|PLXNB3_ENST00000538966.1_Silent_p.L993L|PLXNB3_ENST00000538282.1_Silent_p.L580L	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	970	IPT/TIG 2.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTGCAGCCTGGAGCCAGTGT	0.662																																																	0								ENSG00000198753						39.0	33.0	35.0					X																	153038688		2194	4293	6487	PLXNB3	SO:0001819	synonymous_variant	0			-	HGNC	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.2910G>T	X.37:g.153038688G>T		Somatic	0	54	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	B7Z3E6|F5H773|Q9HDA4	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Plexin_repeat,pfam_Semap_dom,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.L993	ENST00000361971.5	37	c.2979	CCDS14729.1	X																																																																																			-	pfam_IPT,superfamily_Ig_E-set,smart_IPT		0.662	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLXNB3	protein_coding	OTTHUMT00000061063.1	G		-		153038688	+1	no_errors	ENST00000538966	ensembl	human	known	74_37	silent	SNP	0.371	T
ZNF335	63925	genome.wustl.edu	37	20	44596263	44596263	+	Silent	SNP	G	G	A			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr20:44596263G>A	ENST00000322927.2	-	6	925	c.825C>T	c.(823-825)gcC>gcT	p.A275A	ZNF335_ENST00000494955.1_5'UTR|ZNF335_ENST00000426788.1_Silent_p.A120A	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	275					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				CTGCTGCTGCGGCTGCTGCTA	0.577																																																	0								ENSG00000198026						72.0	64.0	67.0					20																	44596263		2203	4300	6503	ZNF335	SO:0001819	synonymous_variant	0			-	HGNC	AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.825C>T	20.37:g.44596263G>A		Somatic	0	37	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	67	16.25	B4DLG7|Q548D0|Q9H684	Silent	SNP	NA	NA	NA	NA	NA	NA	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A275	ENST00000322927.2	37	c.825	CCDS13389.1	20																																																																																			-	NULL		0.577	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF335	protein_coding	OTTHUMT00000079553.1	G	NM_022095	-		44596263	-1	no_errors	ENST00000322927	ensembl	human	known	74_37	silent	SNP	0.000	A
C10orf76	79591	genome.wustl.edu	37	10	103771512	103771512	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr10:103771512G>T	ENST00000370033.4	-	11	918	c.799C>A	c.(799-801)Caa>Aaa	p.Q267K		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	267						integral component of membrane (GO:0016021)		p.Q267K(1)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		AAACCACTTTGGTGTTCTTCT	0.343																																																	1	Substitution - Missense(1)	endometrium(1)						ENSG00000120029						125.0	124.0	124.0					10																	103771512		1823	4079	5902	C10orf76	SO:0001583	missense	0			-	HGNC	AK023176	CCDS41563.1	10q24.32	2008-10-21			ENSG00000120029	ENSG00000120029			25788	protein-coding gene	gene with protein product						14702039	Standard	NM_024541		Approved	FLJ13114	uc009xwy.1	Q5T2E6	OTTHUMG00000018943	ENST00000370033.4:c.799C>A	10.37:g.103771512G>T	ENSP00000359050:p.Gln267Lys	Somatic	0	33	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	18	30.77	Q2TB87|Q9H8Z9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DUF1741,superfamily_ARM-type_fold	p.Q267K	ENST00000370033.4	37	c.799	CCDS41563.1	10	.	.	.	.	.	.	.	.	.	.	G	16.93	3.258640	0.59321	.	.	ENSG00000120029	ENST00000370033	T	0.65364	-0.15	6.17	6.17	0.99709	.	0.051755	0.85682	D	0.000000	T	0.56202	0.1969	L	0.46157	1.445	0.80722	D	1	B	0.26258	0.145	B	0.24974	0.057	T	0.54456	-0.8291	10	0.06494	T	0.89	-12.8406	20.8794	0.99867	0.0:0.0:1.0:0.0	.	267	Q5T2E6	CJ076_HUMAN	K	267	ENSP00000359050:Q267K	ENSP00000359050:Q267K	Q	-	1	0	C10orf76	103761502	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.097000	0.89539	2.941000	0.99782	0.655000	0.94253	CAA	-	superfamily_ARM-type_fold		0.343	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf76	protein_coding	OTTHUMT00000050007.1	G	NM_024541	-		103771512	-1	no_errors	ENST00000370033	ensembl	human	known	74_37	missense	SNP	1.000	T
ZNF595	152687	genome.wustl.edu	37	4	86907	86907	+	3'UTR	SNP	G	G	T			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr4:86907G>T	ENST00000339368.6	+	0	1716							Q8IYB9	ZN595_HUMAN	zinc finger protein 595						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		TCATACTGGAGAGAAACCCTA	0.373																																																	0								ENSG00000197701						46.0	52.0	50.0					4																	86907		2109	4253	6362	ZNF595	SO:0001624	3_prime_UTR_variant	0			-	HGNC	BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"""Zinc fingers, C2H2-type"", ""-"""	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000339368.6:c.*1713G>T	4.37:g.86907G>T		Somatic	0	16	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	3	88.46		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000339368.6	37	NULL		4																																																																																			-	-		0.373	ZNF595-001	KNOWN	basic	processed_transcript	ZNF595	protein_coding	OTTHUMT00000357814.2	G	NM_182524	-		86907	+1	no_errors	ENST00000339368	ensembl	human	known	74_37	rna	SNP	1.000	T
PKHD1L1	93035	genome.wustl.edu	37	8	110456116	110456116	+	Silent	SNP	C	C	T			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr8:110456116C>T	ENST00000378402.5	+	37	4880	c.4776C>T	c.(4774-4776)ctC>ctT	p.L1592L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1592	IPT/TIG 8.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTAGTAATCTCCCATGGGCTA	0.308										HNSCC(38;0.096)																																							0								ENSG00000205038						92.0	88.0	90.0					8																	110456116		1818	4073	5891	PKHD1L1	SO:0001819	synonymous_variant	0			-	HGNC	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.4776C>T	8.37:g.110456116C>T		Somatic	0	39	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	21	54.35	Q567P2|Q9UF27	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1	p.L1592	ENST00000378402.5	37	c.4776	CCDS47911.1	8																																																																																			-	pfam_IPT,superfamily_Ig_E-set,smart_IPT		0.308	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	protein_coding	OTTHUMT00000381017.1	C	NM_177531	-		110456116	+1	no_errors	ENST00000378402	ensembl	human	known	74_37	silent	SNP	0.689	T
B3GALTL	145173	genome.wustl.edu	37	13	31797114	31797114	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr13:31797114G>T	ENST00000343307.4	+	3	295	c.146G>T	c.(145-147)aGg>aTg	p.R49M		NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	49					fucose metabolic process (GO:0006004)|protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		GGTATATCAAGGAAAAATGAC	0.294																																																	0								ENSG00000187676						122.0	117.0	119.0					13																	31797114		2202	4300	6502	B3GALTL	SO:0001583	missense	0			-	HGNC	AB101481	CCDS9341.1	13q12.3	2014-03-24			ENSG00000187676	ENSG00000187676		"""Beta 3-glycosyltransferases"""	20207	protein-coding gene	gene with protein product		610308				12943678, 16899492, 17032646	Standard	NM_194318		Approved	B3GTL, B3Glc-T	uc010aaz.3	Q6Y288	OTTHUMG00000016688	ENST00000343307.4:c.146G>T	13.37:g.31797114G>T	ENSP00000343002:p.Arg49Met	Somatic	0	34	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	A8K5F8|Q5W0H2|Q6NUI3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Fringe-like	p.R49M	ENST00000343307.4	37	c.146	CCDS9341.1	13	.	.	.	.	.	.	.	.	.	.	G	3.551	-0.091736	0.07053	.	.	ENSG00000187676	ENST00000343307	T	0.72505	-0.66	5.56	2.77	0.32553	.	0.602522	0.16653	N	0.205142	T	0.44414	0.1292	N	0.08118	0	0.09310	N	1	P	0.39576	0.679	B	0.34722	0.188	T	0.32745	-0.9895	10	0.52906	T	0.07	-5.4195	5.5471	0.17069	0.182:0.1614:0.6566:0.0	.	49	Q6Y288	B3GLT_HUMAN	M	49	ENSP00000343002:R49M	ENSP00000343002:R49M	R	+	2	0	B3GALTL	30695114	0.681000	0.27614	0.000000	0.03702	0.053000	0.15095	1.137000	0.31479	0.335000	0.23614	0.655000	0.94253	AGG	-	NULL		0.294	B3GALTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GALTL	protein_coding	OTTHUMT00000044396.3	G	NM_194318	-		31797114	+1	no_errors	ENST00000343307	ensembl	human	known	74_37	missense	SNP	0.002	T
CD47	961	genome.wustl.edu	37	3	107764407	107764407	+	IGR	DEL	T	T	-			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr3:107764407delT	ENST00000361309.5	-	0	1285				CD47_ENST00000355354.7_3'UTR|CD47_ENST00000471694.1_5'UTR	NM_001777.3	NP_001768.1	Q08722	CD47_HUMAN	CD47 molecule						blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|opsonization (GO:0008228)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of inflammatory response (GO:0050729)|positive regulation of phagocytosis (GO:0050766)|positive regulation of T cell activation (GO:0050870)|response to bacterium (GO:0009617)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thrombospondin receptor activity (GO:0070053)			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(3;0.0191)|Epithelial(53;0.118)			tgtatacatatTTTTTTTTTC	0.333																																																	0								ENSG00000196776																																			CD47	SO:0001628	intergenic_variant	0				HGNC		CCDS43125.1, CCDS43126.1	3q13.1-q13.2	2013-01-11	2006-03-28		ENSG00000196776	ENSG00000196776		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1682	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibody 1D8"", ""antigenic surface determinant protein OA3"", ""integrin associated protein"", ""Rh-related antigen"", ""leukocyte surface antigen CD47"", ""CD47 glycoprotein"""	601028	"""CD47 antigen (Rh-related antigen, integrin-associated signal transducer)"""	MER6		8294396, 2277087	Standard	XM_005247908		Approved	IAP, OA3	uc003dwt.1	Q08722	OTTHUMG00000044216		3.37:g.107764407delT		Somatic	0	27	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	27	10.00	A8K198|D3DN59|Q53Y71|Q96A60	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000361309.5	37	NULL	CCDS43126.1	3																																																																																			-	-		0.333	CD47-004	KNOWN	basic|CCDS	protein_coding	CD47	protein_coding	OTTHUMT00000102793.1	T	NM_001777			107764407	-1	no_errors	ENST00000471694	ensembl	human	known	74_37	rna	DEL	0.000	-
HDAC4	9759	genome.wustl.edu	37	2	240016733	240016733	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr2:240016733G>T	ENST00000345617.3	-	17	3029	c.2238C>A	c.(2236-2238)ttC>ttA	p.F746L	HDAC4_ENST00000541256.1_Missense_Mutation_p.F720L|HDAC4_ENST00000543185.1_Missense_Mutation_p.F330L	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	746	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GGAGCCGGACGAACACGGAGG	0.612																																																	0								ENSG00000068024						77.0	85.0	82.0					2																	240016733		2203	4300	6503	HDAC4	SO:0001583	missense	0			-	HGNC	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.2238C>A	2.37:g.240016733G>T	ENSP00000264606:p.Phe746Leu	Somatic	0	39	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	35	16.67	Q9UND6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.F746L	ENST00000345617.3	37	c.2238	CCDS2529.1	2	.	.	.	.	.	.	.	.	.	.	G	8.926	0.962203	0.18583	.	.	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000543185;ENST00000541256;ENST00000393621	T;T;T	0.65364	0.22;-0.15;0.73	4.46	-8.93	0.00771	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	T	0.65207	0.2669	L	0.48935	1.535	0.40990	D	0.984848	D;B;B;B;B;B	0.54601	0.967;0.222;0.013;0.014;0.016;0.2	P;B;B;B;B;B	0.58577	0.841;0.094;0.016;0.005;0.037;0.146	T	0.79305	-0.1858	10	0.56958	D	0.05	.	20.7024	0.99706	0.2754:0.0:0.7246:0.0	.	746;629;720;720;714;746	B7Z8G5;F5H0Q9;F5H5W4;B7Z8I2;Q53SM2;P56524	.;.;.;.;.;HDAC4_HUMAN	L	746;634;330;720;629	ENSP00000264606:F746L;ENSP00000440481:F330L;ENSP00000443057:F720L	ENSP00000264606:F746L	F	-	3	2	HDAC4	239681670	0.411000	0.25384	0.125000	0.21846	0.040000	0.13550	-0.171000	0.09883	-2.355000	0.00614	-0.768000	0.03414	TTC	-	pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk		0.612	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC4	protein_coding	OTTHUMT00000257174.2	G	NM_006037	-		240016733	-1	no_errors	ENST00000345617	ensembl	human	known	74_37	missense	SNP	0.191	T
CAMKK2	10645	genome.wustl.edu	37	12	121678327	121678328	+	3'UTR	INS	-	-	TTT	rs398056010|rs201965034|rs200501220|rs63023660|rs398021385		TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr12:121678327_121678328insTTT	ENST00000324774.5	-	0	2769_2770				CAMKK2_ENST00000347034.2_3'UTR|CAMKK2_ENST00000392474.2_In_Frame_Ins_p.538_539insK|CAMKK2_ENST00000545538.1_In_Frame_Ins_p.325_326insK|CAMKK2_ENST00000337174.3_3'UTR|CAMKK2_ENST00000538733.1_3'UTR|CAMKK2_ENST00000404169.3_Intron|CAMKK2_ENST00000412367.2_Intron	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta						calcium-mediated signaling (GO:0019722)|MAPK cascade (GO:0000165)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GAGTCAAGTCCTTTTTTTTTTT	0.495																																																	0								ENSG00000110931																																			CAMKK2	SO:0001624	3_prime_UTR_variant	0				HGNC	AF101264	CCDS9216.1, CCDS9217.1, CCDS9218.1, CCDS9219.1, CCDS44999.1, CCDS53837.1, CCDS58283.1	12q24.2	2002-08-13				ENSG00000110931			1470	protein-coding gene	gene with protein product		615002				9662074	Standard	NM_172226		Approved	CAMKK, KIAA0787, CAMKKB, MGC15254	uc001tzu.3	Q96RR4		ENST00000324774.5:c.*175->AAA	12.37:g.121678334_121678336dupTTT		Somatic	0	35	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	36	16.28	A8K7Q7|O94883|Q8IUG2|Q8IUG3|Q8N3I4|Q8WY03|Q8WY04|Q8WY05|Q8WY06|Q96RP1|Q96RP2|Q96RR3|Q9BWE9|Q9UER3|Q9UES2|Q9Y5N2	In_Frame_Ins	INS	NA	NA	NA	NA	NA	NA	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.538in_frame_insK	ENST00000324774.5	37	c.1615_1614	CCDS9216.1	12																																																																																			-	NULL		0.495	CAMKK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CAMKK2	protein_coding	OTTHUMT00000402563.1	-	NM_172226			121678328	-1	no_errors	ENST00000392474	ensembl	human	known	74_37	in_frame_ins	INS	0.005:0.000	TTT
SEPN1	57190	genome.wustl.edu	37	1	26138259	26138259	+	Silent	SNP	G	G	T			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr1:26138259G>T	ENST00000374315.1	+	8	1106	c.1068G>T	c.(1066-1068)ctG>ctT	p.L356L	RP1-317E23.6_ENST00000527604.1_5'Flank|SEPN1_ENST00000354177.4_Silent_p.L356L|SEPN1_ENST00000361547.2_Silent_p.L390L	NM_206926.1	NP_996809.1	Q9NZV5	SELN_HUMAN	selenoprotein N, 1	390						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		ACAGCCACCTGCCTTCAGGGG	0.642																																																	0								ENSG00000162430						25.0	27.0	26.0					1																	26138259		2078	4222	6300	SEPN1	SO:0001819	synonymous_variant	0			-	HGNC	AF166125	CCDS41282.1, CCDS41283.1	1p36.13	2014-09-17	2004-02-13		ENSG00000162430	ENSG00000162430		"""EF-hand domain containing"""	15999	protein-coding gene	gene with protein product		606210	"""rigid spine muscular dystrophy 1"""	RSMD1, MDRS1		10608886	Standard	NM_020451		Approved	selN, RSS	uc021ojl.1	Q9NZV5	OTTHUMG00000007375	ENST00000374315.1:c.1068G>T	1.37:g.26138259G>T		Somatic	0	37	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	A6NJG8|A8MQ64|Q6PI70|Q969F6|Q9NUI6	Silent	SNP	NA	NA	NA	NA	NA	NA	pfscan_EF_hand_dom	p.L356	ENST00000374315.1	37	c.1068	CCDS41283.1	1																																																																																			-	NULL		0.642	SEPN1-002	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	SEPN1	protein_coding	OTTHUMT00000019315.2	G	NM_020451	-		26138259	+1	no_errors	ENST00000354177	ensembl	human	known	74_37	silent	SNP	0.977	T
PHF23	79142	genome.wustl.edu	37	17	7139463	7139464	+	In_Frame_Ins	INS	-	-	TCTTCTTCT			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr17:7139463_7139464insTCTTCTTCT	ENST00000320316.3	-	4	1008_1009	c.782_783insAGAAGAAGA	c.(781-783)gag>gaAGAAGAAGAg	p.261_261E>EEEE	DVL2_ENST00000005340.5_5'Flank|PHF23_ENST00000570753.1_5'Flank|PHF23_ENST00000571362.1_In_Frame_Ins_p.194_194E>EEEE|PHF23_ENST00000454255.2_In_Frame_Ins_p.257_257E>EEEE|PHF23_ENST00000576955.1_In_Frame_Ins_p.131_131E>EEEE|DVL2_ENST00000575458.1_5'Flank	NM_001284518.1|NM_024297.2	NP_001271447.1|NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	261	Poly-Glu.						zinc ion binding (GO:0008270)			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						CTGTTGCCATCtcttcttcttc	0.624																																																	0								ENSG00000040633																																			PHF23	SO:0001652	inframe_insertion	0				HGNC	AK122791	CCDS42250.1, CCDS67143.1, CCDS67144.1	17p13.1	2014-08-13			ENSG00000040633	ENSG00000040633		"""Zinc fingers, PHD-type"""	28428	protein-coding gene	gene with protein product		612910					Standard	NM_024297		Approved	MGC2941, FLJ16355	uc002gfa.3	Q9BUL5	OTTHUMG00000177972	ENST00000320316.3:c.774_782dupAGAAGAAGA	17.37:g.7139464_7139472dupTCTTCTTCT	ENSP00000322579:p.GluGluGlu261dup	Somatic	NA	NA	NA		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	A1DZ74|B3KVH8|B4DLK6|D3DTN4|Q8IZK0|Q96HG7|Q9H5X0	In_Frame_Ins	INS	NA	NA	NA	NA	NA	NA	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD	p.262in_frame_insEEE	ENST00000320316.3	37	c.783_782	CCDS42250.1	17																																																																																			-	NULL		0.624	PHF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF23	protein_coding	OTTHUMT00000440047.1	-	NM_024297			7139464	-1	no_errors	ENST00000320316	ensembl	human	known	74_37	in_frame_ins	INS	0.339:0.962	TCTTCTTCT
GEMIN4	50628	genome.wustl.edu	37	17	656793	656793	+	5'Flank	SNP	T	T	C			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr17:656793T>C	ENST00000319004.5	-	0	0				GEMIN4_ENST00000437269.1_5'Flank|DBIL5P_ENST00000536214.1_RNA	NM_015721.2	NP_056536.2	P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4						gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		ATGGCTGAAATGTCCTGAAAC	0.512																																																	0								ENSG00000231784																																			DBIL5P	SO:0001631	upstream_gene_variant	0			-	HGNC	AF177341	CCDS45559.1	17p13.3	2008-07-18				ENSG00000179409			15717	protein-coding gene	gene with protein product	"""HCC-associated protein 1"", ""component of gems 4"""	606969				10725331	Standard	NM_015721		Approved	HHRF-1, DKFZP434B131, p97, DKFZP434D174, HC56, HCAP1	uc002frs.1	P57678			17.37:g.656793T>C	Exception_encountered	Somatic	0	18	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	1	95.83	Q9NZS7|Q9UG32|Q9Y4Q2	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000319004.5	37	NULL	CCDS45559.1	17																																																																																			-	-		0.512	GEMIN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBIL5P	protein_coding	OTTHUMT00000437181.1	T	NM_015721	-		656793	+1	no_errors	ENST00000536214	ensembl	human	known	74_37	rna	SNP	0.000	C
CFH	3075	genome.wustl.edu	37	1	196695646	196695646	+	Silent	SNP	T	T	C			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr1:196695646T>C	ENST00000367429.4	+	13	2160	c.1920T>C	c.(1918-1920)aaT>aaC	p.N640N		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	640	Sushi 11. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TCAATGGGAATGTTAAGGAAA	0.328																																																	0								ENSG00000000971						80.0	86.0	84.0					1																	196695646		2203	4299	6502	CFH	SO:0001819	synonymous_variant	0			-	HGNC	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.1920T>C	1.37:g.196695646T>C		Somatic	0	34	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	21	43.24	A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.N640	ENST00000367429.4	37	c.1920	CCDS1385.1	1																																																																																			-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.328	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFH	protein_coding	OTTHUMT00000086412.2	T	NM_000186	-		196695646	+1	no_errors	ENST00000367429	ensembl	human	known	74_37	silent	SNP	0.000	C
MEX3C	51320	genome.wustl.edu	37	18	48723146	48723154	+	Intron	DEL	GCCGCCGCG	GCCGCCGCG	-	rs78074704|rs530394988|rs147438518|rs201868643|rs62092914|rs530602218	byFrequency	TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	GCCGCCGCG	GCCGCCGCG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr18:48723146_48723154delGCCGCCGCG	ENST00000591040.1	-	2	43				MEX3C_ENST00000592416.1_5'Flank			Q5U5Q3	MEX3C_HUMAN	mex-3 RNA binding family member C						chondrocyte hypertrophy (GO:0003415)|energy homeostasis (GO:0097009)|regulation of fat cell differentiation (GO:0045598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|skin(1)	17		Colorectal(6;0.003)|all_epithelial(6;0.0473)		Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15)		CCccgccgccgccgccgcggccgccgccT	0.78																																																	0								ENSG00000176624			429,1467		144,141,663						-0.2	0.9		dbSNP_131	4	2100,2286		804,492,897	no	coding	MEX3C	NM_016626.4		948,633,1560	A1A1,A1R,RR		47.8796,22.6266,40.2579				2529,3753				MEX3C	SO:0001627	intron_variant	0				HGNC	BC041122	CCDS11951.2	18q21.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000176624	ENSG00000176624		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	28040	protein-coding gene	gene with protein product		611005	"""ring finger and KH domain containing 2"", ""mex-3 homolog C (C. elegans)"""	RKHD2		17267406	Standard	NM_016626		Approved	FLJ38871, RNF194	uc002lfc.4	Q5U5Q3	OTTHUMG00000132693	ENST00000591040.1:c.757-19200CGCGGCGGC>-	18.37:g.48723146_48723154delGCCGCCGCG		Somatic	NA	NA	NA		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	A1L022|Q9NZE3	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1	p.AAA182in_frame_del	ENST00000591040.1	37	c.545_537		18																																																																																			-	NULL		0.780	MEX3C-003	KNOWN	mRNA_end_NF|basic	processed_transcript	MEX3C	protein_coding	OTTHUMT00000449559.1	GCCGCCGCG	NM_016626			48723154	-1	no_errors	ENST00000406189	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.997	-
CABLES1	91768	genome.wustl.edu	37	18	20716015	20716023	+	In_Frame_Del	DEL	GGCGCCGGC	GGCGCCGGC	-	rs201595073|rs139352344	byFrequency	TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	GGCGCCGGC	GGCGCCGGC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr18:20716015_20716023delGGCGCCGGC	ENST00000256925.7	+	1	289_297	c.289_297delGGCGCCGGC	c.(289-297)ggcgccggcdel	p.GAG97del	AC105247.1_ENST00000411067.1_RNA|CABLES1_ENST00000400473.2_Intron	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	97	Ala-rich.|Interacts with TDRD7. {ECO:0000250}.				blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|nervous system development (GO:0007399)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)	cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ggccaagccgggcgccggcggcgcctgcg	0.785														1123	0.224241	0.2602	0.17	5008	,	,		3844	0.244		0.2048	False		,,,				2504	0.2137																0								ENSG00000134508																																			CABLES1	SO:0001651	inframe_deletion	0				HGNC	BC037218	CCDS42417.1, CCDS42418.1, CCDS58615.1	18q11.2	2005-08-16				ENSG00000134508			25097	protein-coding gene	gene with protein product		609194				12477932	Standard	NM_138375		Approved	HsT2563, FLJ35924	uc002kuc.2	Q8TDN4		ENST00000256925.7:c.289_297delGGCGCCGGC	18.37:g.20716015_20716023delGGCGCCGGC	ENSP00000256925:p.Gly97_Gly99del	Somatic	NA	NA	NA		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	B4DK60|Q8N3Y8|Q8NA22|Q9BTG1	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Cyclin_N,superfamily_Cyclin-like,pirsf_Cdk5/c-Abl_linker_Cables	p.GGA99in_frame_del	ENST00000256925.7	37	c.289_297	CCDS42417.1	18																																																																																			-	pirsf_Cdk5/c-Abl_linker_Cables		0.785	CABLES1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CABLES1	protein_coding	OTTHUMT00000445198.2	GGCGCCGGC	NM_138375			20716023	+1	no_errors	ENST00000256925	ensembl	human	known	74_37	in_frame_del	DEL	0.983:0.981:0.990:0.998:0.999:0.997:0.999:0.999:0.997	-
ATOH8	84913	genome.wustl.edu	37	2	85991284	85991284	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr2:85991284G>T	ENST00000306279.3	+	2	1235	c.939G>T	c.(937-939)gaG>gaT	p.E313D	ATOH8_ENST00000463422.1_3'UTR	NM_032827.6	NP_116216.2	Q96SQ7	ATOH8_HUMAN	atonal homolog 8 (Drosophila)	313					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TGCAGGCCGAGGGACGTGCCA	0.652																																																	0								ENSG00000168874						55.0	51.0	52.0					2																	85991284		2203	4300	6503	ATOH8	SO:0001583	missense	0			-	HGNC	AK074681	CCDS1985.1	2p11.2	2013-05-21			ENSG00000168874	ENSG00000168874		"""Basic helix-loop-helix proteins"""	24126	protein-coding gene	gene with protein product	"""basic helix loop helix transcription factor 6"""					12419857	Standard	NM_032827		Approved	HATH6, FLJ14708, bHLHa21	uc002sqn.3	Q96SQ7	OTTHUMG00000130178	ENST00000306279.3:c.939G>T	2.37:g.85991284G>T	ENSP00000304676:p.Glu313Asp	Somatic	0	34	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.51	Q504S2|Q659B0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.E313D	ENST00000306279.3	37	c.939	CCDS1985.1	2	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550751	0.65311	.	.	ENSG00000168874	ENST00000306279	D	0.96396	-4.0	5.02	3.16	0.36331	Helix-loop-helix DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.95639	0.8582	L	0.60455	1.87	0.44462	D	0.997392	D;P	0.58970	0.984;0.941	P;P	0.52758	0.708;0.696	D	0.94720	0.7900	10	0.72032	D	0.01	-6.3594	8.744	0.34575	0.2616:0.0:0.7384:0.0	.	313;313	Q96SQ7;Q96SQ7-2	ATOH8_HUMAN;.	D	313	ENSP00000304676:E313D	ENSP00000304676:E313D	E	+	3	2	ATOH8	85844795	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.708000	0.37899	1.235000	0.43724	0.655000	0.94253	GAG	-	superfamily_bHLH_dom		0.652	ATOH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATOH8	protein_coding	OTTHUMT00000252496.1	G	NM_032827	-		85991284	+1	no_errors	ENST00000306279	ensembl	human	known	74_37	missense	SNP	1.000	T
NAV2	89797	genome.wustl.edu	37	11	20141368	20141368	+	IGR	DEL	A	A	-	rs113739584		TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr11:20141368delA	ENST00000396087.3	+	0	7882				NAV2-AS1_ENST00000526642.1_RNA|NAV2_ENST00000540292.1_3'UTR|NAV2_ENST00000360655.4_3'UTR|NAV2_ENST00000349880.4_3'UTR|NAV2_ENST00000396085.1_3'UTR|NAV2_ENST00000311043.8_3'UTR|NAV2_ENST00000527559.2_3'UTR	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2						glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TGGGAAAAAGAAAAAAAAAAA	0.408																																																	0								ENSG00000254894																																			NAV2-AS1	SO:0001628	intergenic_variant	0				HGNC	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837		11.37:g.20141368delA		Somatic	0	30	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	23	8.00	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000396087.3	37	NULL	CCDS58126.1	11																																																																																			-	-		0.408	NAV2-001	KNOWN	basic|CCDS	protein_coding	NAV2-AS1	protein_coding	OTTHUMT00000324112.1	A	NM_145117			20141368	-1	no_errors	ENST00000526642	ensembl	human	known	74_37	rna	DEL	0.000	-
GPRIN1	114787	genome.wustl.edu	37	5	176025351	176025351	+	Silent	SNP	G	G	A	rs147157849		TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr5:176025351G>A	ENST00000303991.4	-	2	1662	c.1485C>T	c.(1483-1485)ggC>ggT	p.G495G		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	495					neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACCTGGGATCGCCTGGACCTG	0.552													g|||	1	0.000199681	0.0	0.0	5008	,	,		20728	0.001		0.0	False		,,,				2504	0.0																0								ENSG00000169258						82.0	91.0	88.0					5																	176025351		2203	4294	6497	GPRIN1	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC	AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.1485C>T	5.37:g.176025351G>A		Somatic	0	26	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	13	48.15	C9JM70|Q8ND74|Q96PZ4	Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.G495	ENST00000303991.4	37	c.1485	CCDS4405.1	5																																																																																			-	NULL		0.552	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN1	protein_coding	OTTHUMT00000253149.1	G	NM_052899	rs147157849		176025351	-1	no_errors	ENST00000303991	ensembl	human	known	74_37	silent	SNP	0.000	A
HMGN5	79366	genome.wustl.edu	37	X	80371790	80371790	+	Silent	SNP	G	G	T			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chrX:80371790G>T	ENST00000358130.2	-	6	508	c.180C>A	c.(178-180)gcC>gcA	p.A60A	HMGN5_ENST00000491275.1_5'UTR	NM_030763.2	NP_110390.1	P82970	HMGN5_HUMAN	high mobility group nucleosome binding domain 5	60					chromatin modification (GO:0016568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.A60A(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	10						CAACTGCTTGGGCACTTGTAT	0.328																																																	2	Substitution - coding silent(2)	endometrium(2)						ENSG00000198157						148.0	113.0	125.0					X																	80371790		2203	4297	6500	HMGN5	SO:0001819	synonymous_variant	0			-	HGNC	AF250329	CCDS14448.1	Xq13.3	2011-07-01	2011-04-05	2009-09-15	ENSG00000198157	ENSG00000198157		"""High-mobility group / Canonical"""	8013	protein-coding gene	gene with protein product		300385	"""nucleosomal binding protein 1"", ""high-mobility group nucleosome binding domain 5"""	NSBP1		11161810, 19748358	Standard	NM_030763		Approved		uc004eee.1	P82970	OTTHUMG00000021911	ENST00000358130.2:c.180C>A	X.37:g.80371790G>T		Somatic	0	41	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	49	9.26	Q5JSL1	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_HMGN_fam,smart_HMGN_fam,prints_HMGN_fam	p.A60	ENST00000358130.2	37	c.180	CCDS14448.1	X																																																																																			-	pfam_HMGN_fam,smart_HMGN_fam		0.328	HMGN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGN5	protein_coding	OTTHUMT00000057354.1	G	NM_030763	-		80371790	-1	no_errors	ENST00000358130	ensembl	human	known	74_37	silent	SNP	0.020	T
RICTOR	253260	genome.wustl.edu	37	5	38959431	38959432	+	5'UTR	INS	-	-	A	rs575136099|rs538116949|rs201797325	byFrequency	TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr5:38959431_38959432insA	ENST00000503698.1	-	0	2_3				RICTOR_ENST00000357387.3_Intron|RICTOR_ENST00000296782.5_Intron					RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					AGACTTAAAAGAAAAAAAAAAT	0.272																																																	0								ENSG00000164327																																			RICTOR	SO:0001623	5_prime_UTR_variant	0				HGNC		CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000503698.1:c.-778->T	5.37:g.38959441_38959441dupA		Somatic	0	17	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	39	17.02		RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000503698.1	37	NULL		5																																																																																			-	-		0.272	RICTOR-009	KNOWN	basic	processed_transcript	RICTOR	protein_coding	OTTHUMT00000366993.1	-	NM_152756			38959432	-1	no_errors	ENST00000503698	ensembl	human	known	74_37	rna	INS	0.000:0.004	A
PARP3	10039	genome.wustl.edu	37	3	51979084	51979084	+	Silent	SNP	G	G	A	rs540910959		TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr3:51979084G>A	ENST00000417220.2	+	7	1193	c.705G>A	c.(703-705)gcG>gcA	p.A235A	PARP3_ENST00000398755.3_Silent_p.A242A|PARP3_ENST00000431474.1_Silent_p.A235A			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	235	PARP alpha-helical. {ECO:0000255|PROSITE- ProRule:PRU00398}.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|positive regulation of DNA ligation (GO:0051106)|protein ADP-ribosylation (GO:0006471)|protein localization to site of double-strand break (GO:1990166)|regulation of mitotic spindle organization (GO:0060236)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	catalytic activity (GO:0003824)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCTTGGAGGCGCTGGAGGAGG	0.607																																																	0								ENSG00000041880						57.0	69.0	65.0					3																	51979084		2029	4174	6203	PARP3	SO:0001819	synonymous_variant	0			-	HGNC	AF083068	CCDS43097.1, CCDS46839.1	3p22.2-p21.1	2010-07-14	2004-08-20	2004-08-26	ENSG00000041880	ENSG00000041880	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	273	protein-coding gene	gene with protein product	"""poly(ADP-ribose) synthetase-3"", ""NAD+ ADP-ribosyltransferase 3"", ""poly(ADP-ribose) polymerase 3"""	607726	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 3"""	ADPRTL3		10329013	Standard	NM_001003931		Approved	ADPRT3, IRT1, hPARP-3, pADPRT-3	uc003dbz.3	Q9Y6F1	OTTHUMG00000156931	ENST00000417220.2:c.705G>A	3.37:g.51979084G>A		Somatic	0	48	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	Q8NER9|Q96CG2|Q9UG81	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_WGR_domain,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,smart_WGR_domain,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.A242	ENST00000417220.2	37	c.726	CCDS43097.1	3																																																																																			-	pfam_Poly(ADP-ribose)pol_reg_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,pfscan_Poly(ADP-ribose)pol_reg_dom		0.607	PARP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PARP3	protein_coding	OTTHUMT00000348612.2	G	NM_005485.4	-		51979084	+1	no_errors	ENST00000398755	ensembl	human	known	74_37	silent	SNP	0.000	A
U1	0	genome.wustl.edu	37	1	17198929	17198929	+	lincRNA	SNP	G	G	A			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr1:17198929G>A	ENST00000362684.1	+	0	0																											GTCGCTTGCAGGCTCTTTTTT	0.622																																																	0								ENSG00000228549																																			U1			0			-	RFAM																													1.37:g.17198929G>A		Somatic	0	10	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	10	41.18		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000362684.1	37	NULL		1																																																																																			-	-		0.622	U1.1-201	KNOWN	basic	snRNA	LOC101927806	lincRNA		G		rs7517060		17198929	+1	no_errors	ENST00000438002	ensembl	human	known	74_37	rna	SNP	0.025	A
GRHPR	9380	genome.wustl.edu	37	9	37430971	37430971	+	Intron	SNP	G	G	T			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr9:37430971G>T	ENST00000318158.6	+	7	819				GRHPR_ENST00000607784.1_Intron	NM_012203.1	NP_036335.1	Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase						cellular nitrogen compound metabolic process (GO:0034641)|dicarboxylic acid metabolic process (GO:0043648)|excretion (GO:0007588)|glyoxylate metabolic process (GO:0046487)|metabolic process (GO:0008152)|oxidation-reduction process (GO:0055114)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisomal matrix (GO:0005782)	carboxylic acid binding (GO:0031406)|glycerate dehydrogenase activity (GO:0008465)|glyoxylate reductase (NADP) activity (GO:0030267)|hydroxypyruvate reductase activity (GO:0016618)|NAD binding (GO:0051287)|NADPH binding (GO:0070402)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		CTGGACTTGAGGATCTGAAGG	0.622																																																	0								ENSG00000137106																																			GRHPR	SO:0001627	intron_variant	0			-	HGNC	AF134895	CCDS6609.1	9q12	2012-07-13			ENSG00000137106	ENSG00000137106	1.1.1.79, 1.1.1.81		4570	protein-coding gene	gene with protein product	"""primary hyperoxaluria type 2"""	604296		GLXR		10524214, 10484776	Standard	XM_005251631		Approved	PH2	uc003zzu.1	Q9UBQ7	OTTHUMG00000019914	ENST00000318158.6:c.734+328G>T	9.37:g.37430971G>T		Somatic	0	28	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	Q5T945|Q9H3E9|Q9H636|Q9UKX1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_D-isomer_2_OHA_DH_NAD-bd	p.E211D	ENST00000318158.6	37	c.633	CCDS6609.1	9	.	.	.	.	.	.	.	.	.	.	G	7.165	0.586469	0.13749	.	.	ENSG00000137106	ENST00000377824;ENST00000438860	D	0.83591	-1.74	2.72	-5.44	0.02624	.	.	.	.	.	T	0.69006	0.3063	.	.	.	0.09310	N	0.999996	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.51244	-0.8730	8	0.87932	D	0	.	3.1136	0.06367	0.1148:0.458:0.2474:0.1798	.	354;211	Q5T946;Q9H636	.;.	D	354;211	ENSP00000367055:E354D	ENSP00000367055:E354D	E	+	3	2	GRHPR	37420971	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.863000	0.00725	-2.422000	0.00563	-1.193000	0.01689	GAG	-	NULL		0.622	GRHPR-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRHPR	protein_coding	OTTHUMT00000052442.1	G	NM_012203	-		37430971	+1	no_errors	ENST00000494290	ensembl	human	known	74_37	missense	SNP	0.000	T
LINC01287	103724390	genome.wustl.edu	37	7	153110008	153110008	+	lincRNA	SNP	A	A	G	rs112770540		TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr7:153110008A>G	ENST00000416982.1	-	0	1040																											agatggcggcagtgcagaagg	0.537																																																	0								ENSG00000234722						69.0	78.0	75.0					7																	153110008		692	1591	2283	AC073236.3			0			-	Clone_based_vega_gene																													7.37:g.153110008A>G		Somatic	0	41	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	90	8.16		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000416982.1	37	NULL		7																																																																																			-	-		0.537	AC073236.3-001	KNOWN	basic	lincRNA	ENSG00000234722	lincRNA	OTTHUMT00000280517.1	A		rs112770540		153110008	-1	no_errors	ENST00000416982	ensembl	human	known	74_37	rna	SNP	0.157	G
RTFDC1	51507	genome.wustl.edu	37	20	55093355	55093355	+	3'UTR	SNP	T	T	G			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr20:55093355T>G	ENST00000023939.4	+	0	1062				RTFDC1_ENST00000357348.5_3'UTR|RTFDC1_ENST00000395881.3_3'UTR|FAM209A_ENST00000481560.1_Splice_Site|GCNT7_ENST00000243913.4_Intron	NM_001283035.1|NM_001283036.1|NM_016407.3	NP_001269964.1|NP_001269965.1|NP_057491.2	Q9BY42	RTF2_HUMAN	replication termination factor 2 domain containing 1																		CCCCAGAAGGTTGTTTAGTTT	0.582																																																	0								ENSG00000124103						43.0	47.0	46.0					20																	55093355		2203	4300	6503	FAM209A	SO:0001624	3_prime_UTR_variant	0			-	HGNC	AF161513	CCDS13453.1, CCDS63316.1, CCDS63317.1	20q13	2012-10-29	2012-10-29	2012-10-29	ENSG00000022277	ENSG00000022277			15890	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 43"""	C20orf43			Standard	NM_001283035		Approved	HSPC164, CDAO5	uc002xxt.2	Q9BY42	OTTHUMG00000032801	ENST00000023939.4:c.*34T>G	20.37:g.55093355T>G		Somatic	0	15	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	17	55.26	E1P5Z9|Q9BYL7|Q9HCV9|Q9NX29|Q9NZZ8|Q9P002|Q9UHW3	Splice_Site	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000023939.4	37	c.NULL	CCDS13453.1	20																																																																																			-	-		0.582	RTFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM209A	protein_coding	OTTHUMT00000079817.2	T	NM_016407	-		55093355	+1	no_errors	ENST00000481560	ensembl	human	known	74_37	splice_site	SNP	0.000	G
TPTE2	93492	genome.wustl.edu	37	13	19999954	19999955	+	Intron	INS	-	-	GCGAA	rs55704578|rs200353856	byFrequency	TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr13:19999954_19999955insGCGAA	ENST00000400230.2	-	18	1440				TPTE2_ENST00000382975.4_Intron|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000457266.2_Intron|TPTE2_ENST00000382977.4_Intron|TPTE2_ENST00000382978.1_Intron|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000400103.2_Intron			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2						phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		cagttggccctgtgtgctgccc	0.515														2050	0.409345	0.0507	0.3963	5008	,	,		13195	0.6131		0.5378	False		,,,				2504	0.5613																0								ENSG00000132958		,,	346,3538		59,228,1655					,,	0.7	0.0		dbSNP_129	44	2789,3525		936,917,1304	no	intron,intron,intron	TPTE2	NM_199254.2,NM_130785.3,NM_001141968.1	,,	995,1145,2959	A1A1,A1R,RR		44.1717,8.9083,30.7413	,,	,,		3135,7063				TPTE2	SO:0001627	intron_variant	0				HGNC	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.1395+609->TTCGC	13.37:g.19999954_19999955insGCGAA		Somatic	NA	NA	NA		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Frame_Shift_Ins	INS	NA	NA	NA	NA	NA	NA	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ	p.Q310fs	ENST00000400230.2	37	c.929_928	CCDS45014.1	13																																																																																			-	NULL		0.515	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	TPTE2	protein_coding		-	NM_199254			19999955	-1	no_errors	ENST00000462409	ensembl	human	known	74_37	frame_shift_ins	INS	0.013:0.001	GCGAA
WDR66	144406	genome.wustl.edu	37	12	122359408	122359408	+	Missense_Mutation	SNP	G	G	A	rs12824001		TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr12:122359408G>A	ENST00000288912.4	+	2	1051	c.197G>A	c.(196-198)gGg>gAg	p.G66E	WDR66_ENST00000397454.2_Missense_Mutation_p.G66E	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	66	Glu-rich.		G -> E (in dbSNP:rs12824001).				calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		gaggaggaggggaaggaggaC	0.488																																					Esophageal Squamous(85;849 1794 49757 52143)												0								ENSG00000158023						61.0	66.0	65.0					12																	122359408		1958	4133	6091	WDR66	SO:0001583	missense	0			-	HGNC	AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.197G>A	12.37:g.122359408G>A	ENSP00000288912:p.Gly66Glu	Somatic	0	8	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	10	44.44	C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.G66E	ENST00000288912.4	37	c.197	CCDS41853.1	12	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.863179	0.00552	.	.	ENSG00000158023	ENST00000288912;ENST00000397454	T;T	0.16457	2.34;2.34	1.28	1.28	0.21552	.	.	.	.	.	T	0.07234	0.0183	N	0.24115	0.695	0.80722	P	0.0	D	0.53885	0.963	B	0.38954	0.286	T	0.08269	-1.0730	8	0.02654	T	1	.	5.9748	0.19373	0.0:0.0:1.0:0.0	rs12824001	66	Q8TBY9	WDR66_HUMAN	E	66	ENSP00000288912:G66E;ENSP00000380595:G66E	ENSP00000288912:G66E	G	+	2	0	WDR66	120843791	0.000000	0.05858	0.003000	0.11579	0.032000	0.12392	-0.755000	0.04782	1.057000	0.40506	0.313000	0.20887	GGG	-	NULL		0.488	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR66	protein_coding	OTTHUMT00000401700.1	G	NM_144668	rs12824001		122359408	+1	no_errors	ENST00000288912	ensembl	human	known	74_37	missense	SNP	0.003	A
CAT	847	genome.wustl.edu	37	11	34490058	34490058	+	Intron	DEL	A	A	-	rs534253738		TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr11:34490058delA	ENST00000241052.4	+	11	1523					NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase						aerobic respiration (GO:0009060)|cellular response to growth factor stimulus (GO:0071363)|cholesterol metabolic process (GO:0008203)|hemoglobin metabolic process (GO:0020027)|hydrogen peroxide catabolic process (GO:0042744)|menopause (GO:0042697)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleobase-containing small molecule metabolic process (GO:0055086)|osteoblast differentiation (GO:0001649)|positive regulation of cell division (GO:0051781)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to reactive oxygen species (GO:0000302)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|ureteric bud development (GO:0001657)|UV protection (GO:0009650)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	aminoacylase activity (GO:0004046)|antioxidant activity (GO:0016209)|catalase activity (GO:0004096)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	AAGAGAACTTAAAAAAAAAAA	0.393																																																	0								ENSG00000121691																																			CAT	SO:0001627	intron_variant	0				HGNC	AY028632	CCDS7891.1	11p13	2012-10-02			ENSG00000121691	ENSG00000121691	1.11.1.6		1516	protein-coding gene	gene with protein product		115500					Standard	NM_001752		Approved		uc001mvm.3	P04040	OTTHUMG00000044353	ENST00000241052.4:c.1434+116A>-	11.37:g.34490058delA		Somatic	0	10	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	10	16.67	A8K6C0|B2RCZ9|D3DR07|Q2M1U4|Q4VXX5|Q9BWT9|Q9UC85	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000241052.4	37	NULL	CCDS7891.1	11																																																																																			-	-		0.393	CAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAT	protein_coding	OTTHUMT00000103197.2	A	NM_001752			34490058	+1	no_errors	ENST00000525707	ensembl	human	putative	74_37	rna	DEL	0.000	-
UTP20	27340	genome.wustl.edu	37	12	101748897	101748897	+	Splice_Site	SNP	G	G	T			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr12:101748897G>T	ENST00000261637.4	+	41	5568		c.e41+1			NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)						endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TGCATCTACGGTAATAAATTT	0.423																																																	0								ENSG00000120800						39.0	40.0	39.0					12																	101748897		2189	4294	6483	UTP20	SO:0001630	splice_region_variant	0			-	HGNC	AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.5394+1G>T	12.37:g.101748897G>T		Somatic	0	21	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	20	16.67	Q9H3H4	Splice_Site	SNP	NA	NA	NA	NA	NA	NA	-	e41+1	ENST00000261637.4	37	c.5394+1	CCDS9081.1	12	.	.	.	.	.	.	.	.	.	.	G	13.38	2.221144	0.39201	.	.	ENSG00000120800	ENST00000261637	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5338	0.87822	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	UTP20	100273028	1.000000	0.71417	1.000000	0.80357	0.090000	0.18270	6.593000	0.74100	2.733000	0.93635	0.655000	0.94253	.	-	-		0.423	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP20	protein_coding	OTTHUMT00000408242.1	G	NM_014503	-	Intron	101748897	+1	no_errors	ENST00000261637	ensembl	human	known	74_37	splice_site	SNP	1.000	T
NUP98	4928	genome.wustl.edu	37	11	3704442	3704442	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr11:3704442G>T	ENST00000324932.7	-	30	5326	c.4906C>A	c.(4906-4908)Cac>Aac	p.H1636N	NUP98_ENST00000359171.4_Missense_Mutation_p.H1562N|NUP98_ENST00000355260.3_Missense_Mutation_p.H1562N	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1653					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GAAGCTAAGTGTCGGATGATG	0.507			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																			Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	0								ENSG00000110713						115.0	97.0	104.0					11																	3704442		2201	4298	6499	NUP98	SO:0001583	missense	0			-	HGNC	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.4906C>A	11.37:g.3704442G>T	ENSP00000316032:p.His1636Asn	Somatic	0	44	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59	p.H1636N	ENST00000324932.7	37	c.4906	CCDS7746.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.4|22.4	4.287396|4.287396	0.80803|0.80803	.|.	.|.	ENSG00000110713|ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260|ENST00000429801	.|.	.|.	.|.	6.14|6.14	6.14|6.14	0.99180|0.99180	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70988|0.70988	0.3287|0.3287	M|M	0.78049|0.78049	2.395|2.395	0.30121|0.30121	N|N	0.805676|0.805676	D;D;P|.	0.76494|.	0.998;0.999;0.607|.	D;D;B|.	0.79784|.	0.993;0.958;0.146|.	T|T	0.68435|0.68435	-0.5409|-0.5409	9|5	0.15499|.	T|.	0.54|.	-13.7512|-13.7512	19.8479|19.8479	0.96722|0.96722	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1562;1636;1550|.	P52948-2;P52948-5;P52948-6|.	.;.;.|.	N|K	1636;1562;1562|588	.|.	ENSP00000316032:H1636N|.	H|T	-|-	1|2	0|0	NUP98|NUP98	3661018|3661018	1.000000|1.000000	0.71417|0.71417	0.972000|0.972000	0.41901|0.41901	0.980000|0.980000	0.70556|0.70556	5.398000|5.398000	0.66308|0.66308	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	CAC|ACA	-	NULL		0.507	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP98	protein_coding	OTTHUMT00000032766.3	G	NM_016320	-		3704442	-1	no_errors	ENST00000324932	ensembl	human	known	74_37	missense	SNP	0.999	T
RBBP8	5932	genome.wustl.edu	37	18	20596862	20596862	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr18:20596862G>T	ENST00000399722.2	+	17	2780	c.2429G>T	c.(2428-2430)gGg>gTg	p.G810V	RBBP8_ENST00000581687.1_5'UTR|RBBP8_ENST00000327155.5_Missense_Mutation_p.G810V|RBBP8_ENST00000360790.5_Missense_Mutation_p.G815V|RBBP8_ENST00000399725.2_Intron	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	810					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.G810V(1)		central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			AAACTGCTTGGGCACACGTGT	0.318								Homologous recombination																																									1	Substitution - Missense(1)	endometrium(1)						ENSG00000101773						107.0	109.0	108.0					18																	20596862		2203	4300	6503	RBBP8	SO:0001583	missense	0			-	HGNC	AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"""CTBP-interacting protein"""	604124	"""retinoblastoma-binding protein 8"", ""Seckel syndrome 2"""	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.2429G>T	18.37:g.20596862G>T	ENSP00000382628:p.Gly810Val	Somatic	0	32	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	47	16.07	A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_CtIP_N,pfam_DNA-repair_Sae2/CtIP	p.G810V	ENST00000399722.2	37	c.2429	CCDS11875.1	18	.	.	.	.	.	.	.	.	.	.	g	21.1	4.093801	0.76870	.	.	ENSG00000101773	ENST00000327155;ENST00000399722;ENST00000360790	T;T;T	0.63096	-0.02;-0.02;-0.01	5.33	4.46	0.54185	.	0.110694	0.64402	D	0.000008	T	0.80783	0.4689	M	0.86502	2.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84031	0.0359	10	0.87932	D	0	-7.3178	13.0342	0.58860	0.0777:0.0:0.9223:0.0	.	815;810	E7ETY1;Q99708	.;COM1_HUMAN	V	810;810;815	ENSP00000323050:G810V;ENSP00000382628:G810V;ENSP00000354024:G815V	ENSP00000323050:G810V	G	+	2	0	RBBP8	18850860	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.252000	0.78309	1.253000	0.44018	0.637000	0.83480	GGG	-	pfam_DNA-repair_Sae2/CtIP		0.318	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RBBP8	protein_coding	OTTHUMT00000446387.1	G	NM_203291	-		20596862	+1	no_errors	ENST00000327155	ensembl	human	known	74_37	missense	SNP	1.000	T
GART	2618	genome.wustl.edu	37	21	34904725	34904725	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr21:34904725G>T	ENST00000381831.3	-	5	717	c.454C>A	c.(454-456)Ctt>Att	p.L152I	GART_ENST00000361093.5_Missense_Mutation_p.L152I|GART_ENST00000381815.4_Missense_Mutation_p.L152I|GART_ENST00000381839.3_Missense_Mutation_p.L152I|GART_ENST00000497313.1_5'UTR	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	152	ATP-grasp.				'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644)			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	CCAGCTGCAAGACCACTGGCC	0.428																																																	0								ENSG00000159131						188.0	199.0	195.0					21																	34904725		2203	4300	6503	GART	SO:0001583	missense	0			-	HGNC	M32082	CCDS13627.1, CCDS13628.1	21q22.11	2012-10-02			ENSG00000159131	ENSG00000159131	2.1.2.2, 6.3.3.1, 6.3.4.13		4163	protein-coding gene	gene with protein product		138440		PRGS, PGFT		2050105	Standard	NM_001136005		Approved		uc002yrx.3	P22102	OTTHUMG00000065628	ENST00000381831.3:c.454C>A	21.37:g.34904725G>T	ENSP00000371253:p.Leu152Ile	Somatic	0	35	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	53	8.62	A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_PRibGlycinamid_synth_ATP-grasp,pfam_Formyl_transf_N,pfam_PRibGlycinamide_synth_N,pfam_AIR_synth_C_dom,pfam_PRibGlycinamide_synth_C-dom,pfam_AIR_synth_N_dom,pfam_ATP-grasp_carboxylate-amine,pfam_CbamoylP_synth_lsu-like_ATP-bd,superfamily_Formyl_transf_N,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,pfscan_ATP-grasp,tigrfam_PRibGlycinamide_synth,tigrfam_PurM_cligase,tigrfam_PurN_trans	p.L152I	ENST00000381831.3	37	c.454	CCDS13627.1	21	.	.	.	.	.	.	.	.	.	.	G	26.3	4.720873	0.89205	.	.	ENSG00000159131	ENST00000381815;ENST00000381831;ENST00000381839;ENST00000361093;ENST00000430874;ENST00000426819	T;T;T;T;T;T	0.54675	1.09;1.09;1.09;1.11;0.59;0.56	6.07	6.07	0.98685	ATP-grasp fold (1);ATP-grasp fold, subdomain 1 (1);Phosphoribosylglycinamide synthetase, ATP-grasp (A) domain (1);	0.000000	0.85682	D	0.000000	T	0.74291	0.3697	M	0.91459	3.21	0.80722	D	1	P	0.51653	0.947	P	0.60886	0.88	T	0.79063	-0.1957	10	0.87932	D	0	-19.5662	10.8974	0.47031	0.1385:0.0:0.8615:0.0	.	152	P22102	PUR2_HUMAN	I	152	ENSP00000371236:L152I;ENSP00000371253:L152I;ENSP00000371261:L152I;ENSP00000354388:L152I;ENSP00000413040:L152I;ENSP00000398631:L152I	ENSP00000354388:L152I	L	-	1	0	GART	33826595	1.000000	0.71417	0.998000	0.56505	0.970000	0.65996	5.516000	0.67055	2.885000	0.99019	0.655000	0.94253	CTT	-	pfam_PRibGlycinamid_synth_ATP-grasp,pfam_ATP-grasp_carboxylate-amine,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfscan_ATP-grasp,tigrfam_PRibGlycinamide_synth		0.428	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GART	protein_coding	OTTHUMT00000140626.3	G	NM_000819	-		34904725	-1	no_errors	ENST00000381815	ensembl	human	known	74_37	missense	SNP	1.000	T
PIAS1	8554	genome.wustl.edu	37	15	68438944	68438944	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr15:68438944G>T	ENST00000249636.6	+	6	882	c.734G>T	c.(733-735)cGa>cTa	p.R245L	PIAS1_ENST00000545237.1_Missense_Mutation_p.R247L	NM_016166.1	NP_057250.1	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	245	PINIT. {ECO:0000255|PROSITE- ProRule:PRU00799}.				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)	p.R245L(1)		breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						GAACCAAAGCGACCCAGCCGA	0.378																																																	1	Substitution - Missense(1)	endometrium(1)						ENSG00000033800						114.0	108.0	110.0					15																	68438944		1832	4072	5904	PIAS1	SO:0001583	missense	0			-	HGNC	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.734G>T	15.37:g.68438944G>T	ENSP00000249636:p.Arg245Leu	Somatic	0	33	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	63	13.70	B2RB67|B3KSY9|C5J4B4|Q147X4|Q99751|Q9UN02	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom	p.R245L	ENST00000249636.6	37	c.734	CCDS45290.1	15	.	.	.	.	.	.	.	.	.	.	G	34	5.307116	0.95629	.	.	ENSG00000033800	ENST00000249636;ENST00000545237	T;T	0.39592	1.08;1.07	5.54	5.54	0.83059	PINIT domain (1);	0.061993	0.64402	D	0.000003	T	0.71358	0.3330	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.996	T	0.76418	-0.2966	10	0.87932	D	0	-8.5286	19.4841	0.95022	0.0:0.0:1.0:0.0	.	245;245	C5J4B4;O75925	.;PIAS1_HUMAN	L	245;247	ENSP00000249636:R245L;ENSP00000438574:R247L	ENSP00000249636:R245L	R	+	2	0	PIAS1	66225998	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.592000	0.87571	0.650000	0.86243	CGA	-	NULL		0.378	PIAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIAS1	protein_coding	OTTHUMT00000419642.2	G		-		68438944	+1	no_errors	ENST00000249636	ensembl	human	known	74_37	missense	SNP	1.000	T
CASC2	255082	genome.wustl.edu	37	10	119966166	119966169	+	RNA	DEL	TGTA	TGTA	-	rs369665818|rs372839776|rs853568|rs568810400|rs575794055	byFrequency	TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	TGTA	TGTA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr10:119966166_119966169delTGTA	ENST00000435944.1	+	0	552				CASC2_ENST00000454857.1_RNA|CASC2_ENST00000414722.1_RNA|CASC2_ENST00000439517.1_RNA	NR_026939.1		Q6XLA1	CSC2A_HUMAN	cancer susceptibility candidate 2 (non-protein coding)																		tataagtgtgtgtatatatatata	0.358																																																	0								ENSG00000177640																																			CASC2			0				HGNC	AJ535620		10q26.12	2012-10-16	2011-08-30	2004-01-23	ENSG00000177640	ENSG00000177640		"""Long non-coding RNAs"""	22933	non-coding RNA	RNA, long non-coding		608598	"""chromosome 10 open reading frame 5"", ""cancer susceptibility candidate 2"""	C10orf5			Standard	NR_026939		Approved		uc001ldk.2	Q6XLA1	OTTHUMG00000019127		10.37:g.119966166_119966169delTGTA		Somatic	0	17	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	18	18.18	D3DRC5	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000435944.1	37	NULL		10																																																																																			-	-		0.358	CASC2-001	KNOWN	basic	antisense	CASC2	antisense	OTTHUMT00000050577.4	TGTA				119966169	+1	no_errors	ENST00000414722	ensembl	human	known	74_37	rna	DEL	0.001:0.000:0.000:0.001	-
NRXN1	9378	genome.wustl.edu	37	2	50147836	50147847	+	3'UTR	DEL	GTGTGTGTGTGT	GTGTGTGTGTGT	-	rs200264093|rs201814381|rs199597709|rs199689866|rs368179294|rs200666696|rs200969250|rs66612444		TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	GTGTGTGTGTGT	GTGTGTGTGTGT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr2:50147836_50147847delGTGTGTGTGTGT	ENST00000406316.2	-	0	7145_7156				NRXN1_ENST00000404971.1_3'UTR|NRXN1_ENST00000342183.5_3'UTR|NRXN1_ENST00000401710.1_3'UTR	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1						adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTGTGGATTCgtgtgtgtgtgtgtgtgtgtgt	0.392																																																	0								ENSG00000179915																																			NRXN1	SO:0001624	3_prime_UTR_variant	0				HGNC	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.*1246ACACACACACAC>-	2.37:g.50147836_50147847delGTGTGTGTGTGT		Somatic	NA	NA	NA		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000406316.2	37	NULL	CCDS54360.1	2																																																																																			-	-		0.392	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	protein_coding	OTTHUMT00000325291.2	GTGTGTGTGTGT				50147847	-1	no_errors	ENST00000484192	ensembl	human	known	74_37	rna	DEL	0.000:0.001:0.005:0.106:0.113:0.127:0.107:0.109:0.093:0.096:0.025:0.055	-
TRAPPC11	60684	genome.wustl.edu	37	4	184629623	184629623	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr4:184629623G>A	ENST00000334690.6	+	29	3455	c.3253G>A	c.(3253-3255)Gct>Act	p.A1085T	RNU6-1053P_ENST00000515930.1_RNA|TRAPPC11_ENST00000357207.4_Intron|TRAPPC11_ENST00000512476.1_Missense_Mutation_p.A691T	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	1085					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)											TCCTCTGATGGCTGGATACCA	0.403																																																	0								ENSG00000168538						99.0	95.0	96.0					4																	184629623		2203	4300	6503	TRAPPC11	SO:0001583	missense	0			-	HGNC		CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"""Trafficking protein particle complex"""	25751	protein-coding gene	gene with protein product	"""gryzun homolog (Drosophila)"", ""foie gras homolog (zebrafish)"""	614138	"""chromosome 4 open reading frame 41"""	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.3253G>A	4.37:g.184629623G>A	ENSP00000335371:p.Ala1085Thr	Somatic	0	50	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Foie-gras_1,pfam_DUF1683_C	p.A1085T	ENST00000334690.6	37	c.3253	CCDS34112.1	4	.	.	.	.	.	.	.	.	.	.	G	26.4	4.735017	0.89482	.	.	ENSG00000168538	ENST00000334690;ENST00000512476	.	.	.	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.72779	0.3503	L	0.48362	1.52	0.80722	D	1	D;P	0.89917	1.0;0.659	D;B	0.91635	0.999;0.228	T	0.66858	-0.5817	9	0.16420	T	0.52	.	18.4694	0.90767	0.0:0.0:1.0:0.0	.	691;1085	D6RHE5;Q7Z392	.;TPC11_HUMAN	T	1085;691	.	ENSP00000335371:A1085T	A	+	1	0	C4orf41	184866617	1.000000	0.71417	0.994000	0.49952	0.970000	0.65996	9.840000	0.99478	2.352000	0.79861	0.557000	0.71058	GCT	-	pfam_DUF1683_C		0.403	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAPPC11	protein_coding	OTTHUMT00000361654.2	G	NM_021942	-		184629623	+1	no_errors	ENST00000334690	ensembl	human	known	74_37	missense	SNP	1.000	A
SIGMAR1	10280	genome.wustl.edu	37	9	34636875	34636875	+	Intron	SNP	G	G	T			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr9:34636875G>T	ENST00000277010.4	-	3	519				SIGMAR1_ENST00000477726.1_Intron|SIGMAR1_ENST00000461426.1_Intron|SIGMAR1_ENST00000378892.1_Intron	NM_001282208.1|NM_005866.2	NP_001269137.1|NP_005857.1	Q99720	SGMR1_HUMAN	sigma non-opioid intracellular receptor 1						cell death (GO:0008219)|lipid transport (GO:0006869)|nervous system development (GO:0007399)|regulation of neuron apoptotic process (GO:0043523)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lipid particle (GO:0005811)|nuclear envelope (GO:0005635)	drug binding (GO:0008144)|opioid receptor activity (GO:0004985)			large_intestine(1)|lung(1)	2					Amitriptyline(DB00321)|Dextromethorphan(DB00514)|Nortriptyline(DB00540)|Pentazocine(DB00652)|Remoxipride(DB00409)	GGAGGGTGGAGGAAGGGAACC	0.552																																																	0								ENSG00000147955																																			SIGMAR1	SO:0001627	intron_variant	0			-	HGNC	BC004899	CCDS6562.1, CCDS6563.1	9p13.3	2008-12-18	2008-12-18	2008-12-18	ENSG00000147955	ENSG00000147955			8157	protein-coding gene	gene with protein product		601978	"""opioid receptor, sigma 1"""	OPRS1		8954936, 9453537	Standard	NM_005866		Approved	SR-BP1	uc003zvb.3	Q99720	OTTHUMG00000019829	ENST00000277010.4:c.445+118C>A	9.37:g.34636875G>T		Somatic	0	29	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	27	12.90	D3DRM7|O00673|O00725|Q0Z9W6|Q153Z1|Q2TSD1|Q53GN2|Q7Z653|Q8N7H3|Q9NYX0	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000277010.4	37	NULL	CCDS6562.1	9																																																																																			-	-		0.552	SIGMAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGMAR1	protein_coding	OTTHUMT00000052204.1	G	NM_005866	-		34636875	-1	no_errors	ENST00000478146	ensembl	human	known	74_37	rna	SNP	0.001	T
ARHGEF6	9459	genome.wustl.edu	37	X	135827388	135827388	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chrX:135827388C>A	ENST00000250617.6	-	4	1658	c.453G>T	c.(451-453)aaG>aaT	p.K151N	ARHGEF6_ENST00000370620.1_5'UTR|ARHGEF6_ENST00000535227.1_5'UTR|ARHGEF6_ENST00000370622.1_5'UTR	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	151					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell junction assembly (GO:0034329)|JNK cascade (GO:0007254)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|intracellular (GO:0005622)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					TTACCACTGTCTTTGACTGCC	0.438																																																	0								ENSG00000129675						231.0	210.0	217.0					X																	135827388		2203	4300	6503	ARHGEF6	SO:0001583	missense	0			-	HGNC	D13631	CCDS14660.1	Xq26	2013-01-10	2002-05-23		ENSG00000129675	ENSG00000129675		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	685	protein-coding gene	gene with protein product	"""Rac/Cdc42 guanine exchange factor (GEF) 6"", ""PAK-interacting exchange factor, alpha"", ""rho guanine nucleotide exchange factor 6"""	300267	"""mental retardation, X-linked 46"""	MRX46		7584048, 9659915	Standard	NM_004840		Approved	alphaPIX, Cool-2, KIAA0006, alpha-PIX, Cool2	uc004fab.3	Q15052	OTTHUMG00000022518	ENST00000250617.6:c.453G>T	X.37:g.135827388C>A	ENSP00000250617:p.Lys151Asn	Somatic	0	26	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	63	18.18	A6NMW9|A8K6S7|B1AL37|Q15396|Q5JQ66|Q7Z3W1|Q86XH0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_SM22_calponin	p.K151N	ENST00000250617.6	37	c.453	CCDS14660.1	X	.	.	.	.	.	.	.	.	.	.	C	15.71	2.912946	0.52439	.	.	ENSG00000129675	ENST00000250617	T	0.56275	0.47	5.15	4.28	0.50868	Src homology-3 domain (1);	0.142157	0.64402	D	0.000007	T	0.54111	0.1838	L	0.55481	1.735	0.80722	D	1	P	0.48640	0.913	P	0.50352	0.638	T	0.57081	-0.7872	10	0.59425	D	0.04	.	8.4248	0.32723	0.0:0.7562:0.0:0.2438	.	151	Q15052	ARHG6_HUMAN	N	151	ENSP00000250617:K151N	ENSP00000250617:K151N	K	-	3	2	ARHGEF6	135655054	0.971000	0.33674	0.995000	0.50966	0.952000	0.60782	1.494000	0.35616	2.145000	0.66743	0.529000	0.55759	AAG	-	superfamily_SH3_domain		0.438	ARHGEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF6	protein_coding	OTTHUMT00000058511.2	C	NM_004840	-		135827388	-1	no_errors	ENST00000250617	ensembl	human	known	74_37	missense	SNP	0.996	A
HERC2P3	283755	genome.wustl.edu	37	15	20666508	20666508	+	RNA	SNP	C	C	T			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr15:20666508C>T	ENST00000428453.1	-	0	810							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						GCGTGTAATCCGAGAAGCAGG	0.453																																																	0								ENSG00000180229																																			HERC2P3			0			-	HGNC	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20666508C>T		Somatic	0	65	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	102	25.00		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000428453.1	37	NULL		15																																																																																			-	-		0.453	HERC2P3-014	KNOWN	basic	processed_transcript	HERC2P3	pseudogene	OTTHUMT00000347772.2	C	NG_008269	-		20666508	-1	no_errors	ENST00000428453	ensembl	human	known	74_37	rna	SNP	1.000	T
RIMS2	9699	genome.wustl.edu	37	8	104930695	104930695	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr8:104930695C>A	ENST00000436393.2	+	7	1638	c.1397C>A	c.(1396-1398)aCa>aAa	p.T466K	RIMS2_ENST00000262231.10_Missense_Mutation_p.T543K|RIMS2_ENST00000406091.3_Missense_Mutation_p.T688K|RIMS2_ENST00000507740.1_Missense_Mutation_p.T496K			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	766					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCTGATAGCACACATGCACAA	0.289										HNSCC(12;0.0054)																																							0								ENSG00000176406						108.0	106.0	107.0					8																	104930695		1818	4086	5904	RIMS2	SO:0001583	missense	0			-	HGNC	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.1397C>A	8.37:g.104930695C>A	ENSP00000390665:p.Thr466Lys	Somatic	0	20	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.T688K	ENST00000436393.2	37	c.2063		8	.	.	.	.	.	.	.	.	.	.	C	21.5	4.161724	0.78226	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998;ENST00000378492;ENST00000515551;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393	T;T;T;T;T;T;T	0.17691	2.26;2.74;2.34;2.39;2.4;2.32;2.73	5.41	5.41	0.78517	.	.	.	.	.	T	0.18257	0.0438	N	0.24115	0.695	0.80722	D	1	B;B;P;B;B;P	0.45902	0.015;0.003;0.462;0.257;0.118;0.868	B;B;B;B;B;P	0.44673	0.011;0.016;0.211;0.139;0.075;0.457	T	0.01367	-1.1373	9	0.62326	D	0.03	.	19.1883	0.93653	0.0:1.0:0.0:0.0	.	766;766;466;543;496;688	Q9UQ26;Q9UQ26-2;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.;.	K	688;719;688;766;79;496;543;496;496;466	ENSP00000427018:T688K;ENSP00000384892:T688K;ENSP00000425205:T496K;ENSP00000262231:T543K;ENSP00000423559:T496K;ENSP00000386228:T496K;ENSP00000390665:T466K	ENSP00000262231:T543K	T	+	2	0	RIMS2	104999871	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.545000	0.82128	2.537000	0.85549	0.655000	0.94253	ACA	-	NULL		0.289	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	RIMS2	protein_coding	OTTHUMT00000367217.1	C	NM_001100117	-		104930695	+1	no_errors	ENST00000406091	ensembl	human	known	74_37	missense	SNP	1.000	A
SNHG14	104472715	genome.wustl.edu	37	15	25287085	25287085	+	RNA	SNP	T	T	A			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr15:25287085T>A	ENST00000552781.1	+	0	328				SNORD109A_ENST00000459128.1_RNA																							TAAGCCTGGCTGTGGAAATGC	0.393																																																	0								ENSG00000270246						52.0	51.0	51.0					15																	25287085		876	1991	2867	SNORD109A			0			-	HGNC																													15.37:g.25287085T>A		Somatic	0	44	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	47	78	37.60		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000552781.1	37	NULL		15																																																																																			-	-		0.393	RP11-701H24.10-001	KNOWN	basic|readthrough_transcript	processed_transcript	SNORD109A	processed_transcript	OTTHUMT00000473258.1	T		-		25287085	+1	no_errors	ENST00000604135	ensembl	human	known	74_37	rna	SNP	0.839	A
ABCC12	94160	genome.wustl.edu	37	16	48149490	48149490	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr16:48149490G>T	ENST00000311303.3	-	13	2170	c.1825C>A	c.(1825-1827)Cag>Aag	p.Q609K	ABCC12_ENST00000448542.1_Missense_Mutation_p.Q609K|ABCC12_ENST00000416054.1_Silent_p.G584G	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	609	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CTAATCCTCTGCCTCTGCCCC	0.637																																																	0								ENSG00000140798						50.0	46.0	48.0					16																	48149490		2201	4300	6501	ABCC12	SO:0001583	missense	0			-	HGNC	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.1825C>A	16.37:g.48149490G>T	ENSP00000311030:p.Gln609Lys	Somatic	0	32	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	27	18.18	Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.Q609K	ENST00000311303.3	37	c.1825	CCDS10730.1	16	.	.	.	.	.	.	.	.	.	.	G	25.9	4.684884	0.88639	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939	D;D	0.93547	-3.24;-3.24	5.09	5.09	0.68999	ABC transporter, conserved site (1);ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.97090	0.9049	M	0.87827	2.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97690	1.0178	10	0.72032	D	0.01	.	17.6475	0.88152	0.0:0.0:1.0:0.0	.	609	Q96J65	MRP9_HUMAN	K	609;609;551	ENSP00000311030:Q609K;ENSP00000401855:Q609K	ENSP00000311030:Q609K	Q	-	1	0	ABCC12	46706991	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	9.400000	0.97290	2.512000	0.84698	0.563000	0.77884	CAG	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.637	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC12	protein_coding	OTTHUMT00000256837.1	G	NM_033226	-		48149490	-1	no_errors	ENST00000311303	ensembl	human	known	74_37	missense	SNP	1.000	T
GPR137B	7107	genome.wustl.edu	37	1	236343299	236343299	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr1:236343299G>C	ENST00000366592.3	+	4	899	c.808G>C	c.(808-810)Gat>Cat	p.D270H	GPR137B_ENST00000366591.4_Missense_Mutation_p.D179H	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	270						integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|membrane (GO:0016020)				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			CCATTCCTTTGATTATGACTG	0.522																																																	0								ENSG00000077585						173.0	145.0	154.0					1																	236343299		2203	4300	6503	GPR137B	SO:0001583	missense	0			-	HGNC	AF027826	CCDS1609.1	1q42-q43	2012-08-10	2006-01-26	2006-01-26	ENSG00000077585	ENSG00000077585			11862	protein-coding gene	gene with protein product		604658	"""transmembrane 7 superfamily member 1 (upregulated in kidney)"""	TM7SF1		9521871	Standard	NM_003272		Approved		uc001hxq.3	O60478	OTTHUMG00000037994	ENST00000366592.3:c.808G>C	1.37:g.236343299G>C	ENSP00000355551:p.Asp270His	Somatic	0	22	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	19	47.22	Q53EK7|Q5TAE6|Q6FHI3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.D270H	ENST00000366592.3	37	c.808	CCDS1609.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.7|25.7	4.666555|4.666555	0.88251|0.88251	.|.	.|.	ENSG00000077585|ENSG00000077585	ENST00000366592;ENST00000366591;ENST00000391852;ENST00000419162|ENST00000454895	T;T;T|.	0.50813|.	0.74;0.73;0.78|.	5.41|5.41	5.41|5.41	0.78517|0.78517	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77498|0.77498	0.4139|0.4139	M|M	0.76002|0.76002	2.32|2.32	0.48341|0.48341	D|D	0.99963|0.99963	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.999;0.999|.	T|T	0.76526|0.76526	-0.2927|-0.2927	10|5	0.87932|.	D|.	0|.	-15.3472|-15.3472	19.5534|19.5534	0.95331|0.95331	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	133;270|.	Q5TAF1;O60478|.	.;G137B_HUMAN|.	H|F	270;179;269;52|133	ENSP00000355551:D270H;ENSP00000355550:D179H;ENSP00000401841:D52H|.	ENSP00000355550:D179H|.	D|L	+|+	1|3	0|2	GPR137B|GPR137B	234409922|234409922	1.000000|1.000000	0.71417|0.71417	0.948000|0.948000	0.38648|0.38648	0.907000|0.907000	0.53573|0.53573	9.292000|9.292000	0.96076|0.96076	2.697000|2.697000	0.92050|0.92050	0.563000|0.563000	0.77884|0.77884	GAT|TTG	-	NULL		0.522	GPR137B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR137B	protein_coding	OTTHUMT00000092761.1	G	NM_003272	-		236343299	+1	no_errors	ENST00000366592	ensembl	human	known	74_37	missense	SNP	1.000	C
EYS	346007	genome.wustl.edu	37	6	66045003	66045003	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr6:66045003C>G	ENST00000370621.3	-	11	2162	c.1636G>C	c.(1636-1638)Gac>Cac	p.D546H	EYS_ENST00000393380.2_Missense_Mutation_p.D546H|EYS_ENST00000370618.3_Missense_Mutation_p.D546H|EYS_ENST00000342421.5_Missense_Mutation_p.D546H|EYS_ENST00000503581.1_Missense_Mutation_p.D546H|EYS_ENST00000370616.2_Missense_Mutation_p.D546H			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	546					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TCCTGACTGTCTTCTTCACTC	0.353																																																	0								ENSG00000188107						154.0	142.0	146.0					6																	66045003		2203	4300	6503	EYS	SO:0001583	missense	0			-	HGNC		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1636G>C	6.37:g.66045003C>G	ENSP00000359655:p.Asp546His	Somatic	0	12	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	25	28.57	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.D546H	ENST00000370621.3	37	c.1636		6	.	.	.	.	.	.	.	.	.	.	c	9.312	1.055739	0.19907	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	T;T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83;1.83	3.8	2.85	0.33270	.	.	.	.	.	T	0.06690	0.0171	L	0.32530	0.975	0.09310	N	1	B;P;B	0.35242	0.16;0.492;0.36	B;B;B	0.30855	0.04;0.121;0.099	T	0.18053	-1.0349	9	0.21014	T	0.42	.	9.7053	0.40211	0.0:0.7874:0.2126:0.0	.	546;546;546	Q5T1H1-1;Q5T1H1-2;Q5SZM4	.;.;.	H	546	ENSP00000424243:D546H;ENSP00000359655:D546H;ENSP00000359650:D546H;ENSP00000377042:D546H;ENSP00000341818:D546H;ENSP00000359652:D546H	ENSP00000341818:D546H	D	-	1	0	EYS	66101724	0.901000	0.30685	0.228000	0.23943	0.028000	0.11728	0.396000	0.20867	1.834000	0.53371	0.491000	0.48974	GAC	-	NULL		0.353	EYS-001	KNOWN	basic	protein_coding	EYS	protein_coding	OTTHUMT00000351351.3	C	XM_294050	-		66045003	-1	no_errors	ENST00000370616	ensembl	human	known	74_37	missense	SNP	0.249	G
ZDBF2	57683	genome.wustl.edu	37	2	207173373	207173373	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr2:207173373T>C	ENST00000374423.3	+	5	4507	c.4121T>C	c.(4120-4122)tTt>tCt	p.F1374S		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1374							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AATGACTCTTTTCAGGCAGCA	0.373																																																	0								ENSG00000204186						47.0	45.0	46.0					2																	207173373		1832	4104	5936	ZDBF2	SO:0001583	missense	0			-	HGNC	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.4121T>C	2.37:g.207173373T>C	ENSP00000363545:p.Phe1374Ser	Somatic	0	27	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	50	2	96.15	Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_DBF,smart_Znf_DBF	p.F1374S	ENST00000374423.3	37	c.4121	CCDS46501.1	2	.	.	.	.	.	.	.	.	.	.	T	10.53	1.376181	0.24857	.	.	ENSG00000204186	ENST00000374423	T	0.43688	0.94	3.63	1.2	0.21068	.	.	.	.	.	T	0.23649	0.0572	L	0.29908	0.895	0.09310	N	1	P	0.38978	0.652	B	0.30179	0.112	T	0.08764	-1.0706	9	0.22706	T	0.39	.	8.1435	0.31097	0.0:0.0:0.3314:0.6686	.	1374	Q9HCK1	ZDBF2_HUMAN	S	1374	ENSP00000363545:F1374S	ENSP00000363545:F1374S	F	+	2	0	ZDBF2	206881618	0.325000	0.24660	0.015000	0.15790	0.010000	0.07245	0.761000	0.26489	0.242000	0.21303	0.528000	0.53228	TTT	-	NULL		0.373	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDBF2	protein_coding	OTTHUMT00000336458.1	T	NM_020923	-		207173373	+1	no_errors	ENST00000374423	ensembl	human	known	74_37	missense	SNP	0.022	C
YES1	7525	genome.wustl.edu	37	18	736829	736829	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr18:736829T>A	ENST00000584307.1	-	10	1440	c.1270A>T	c.(1270-1272)Aat>Tat	p.N424Y	RP11-769O8.2_ENST00000579595.1_RNA|RP11-769O8.1_ENST00000583314.1_RNA|YES1_ENST00000314574.4_Missense_Mutation_p.N424Y|RP11-769O8.3_ENST00000581712.1_RNA|YES1_ENST00000577961.1_Missense_Mutation_p.N429Y			P07947	YES_HUMAN	YES proto-oncogene 1, Src family tyrosine kinase	424	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glucose transport (GO:0015758)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|regulation of vascular permeability (GO:0043114)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	GTGTATTCATTGTCTTCAATT	0.353																																																	0								ENSG00000176105						107.0	93.0	98.0					18																	736829		2202	4298	6500	YES1	SO:0001583	missense	0			-	HGNC	M15990	CCDS11824.1	18p11.31-p11.21	2014-06-26	2014-06-26		ENSG00000176105	ENSG00000176105		"""SH2 domain containing"""	12841	protein-coding gene	gene with protein product		164880	"""v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1"""			2983418	Standard	NM_005433		Approved	Yes, c-yes, HsT441	uc002kky.3	P07947	OTTHUMG00000131472	ENST00000584307.1:c.1270A>T	18.37:g.736829T>A	ENSP00000462468:p.Asn424Tyr	Somatic	0	34	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	26	56.67	A6NLB3|D3DUH1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.N424Y	ENST00000584307.1	37	c.1270	CCDS11824.1	18	.	.	.	.	.	.	.	.	.	.	T	25.0	4.597495	0.87055	.	.	ENSG00000176105	ENST00000359834;ENST00000314574	D	0.83075	-1.68	5.26	5.26	0.73747	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.88962	0.6580	M	0.73598	2.24	0.80722	D	1	D	0.55385	0.971	P	0.57244	0.816	D	0.90485	0.4463	10	0.87932	D	0	.	15.4771	0.75489	0.0:0.0:0.0:1.0	.	424	P07947	YES_HUMAN	Y	424	ENSP00000324740:N424Y	ENSP00000324740:N424Y	N	-	1	0	YES1	726829	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.194000	0.72082	2.116000	0.64780	0.528000	0.53228	AAT	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.353	YES1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	YES1	protein_coding	OTTHUMT00000440827.2	T	NM_005433	-		736829	-1	no_errors	ENST00000314574	ensembl	human	known	74_37	missense	SNP	1.000	A
ENTPD4	9583	genome.wustl.edu	37	8	23290607	23290607	+	Silent	SNP	G	G	T			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr8:23290607G>T	ENST00000358689.4	-	13	1918	c.1683C>A	c.(1681-1683)gtC>gtA	p.V561V	ENTPD4_ENST00000521321.1_Intron|ENTPD4_ENST00000417069.2_Silent_p.V553V|ENTPD4_ENST00000356206.6_Intron	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	561					UDP catabolic process (GO:0006256)	cytoplasmic vesicle (GO:0031410)|integral component of Golgi membrane (GO:0030173)|intracellular membrane-bounded organelle (GO:0043231)	uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		AGTGGTTGTAGACAAAGGAAA	0.602																																																	0								ENSG00000197217						59.0	62.0	61.0					8																	23290607		2203	4300	6503	ENTPD4	SO:0001819	synonymous_variant	0			-	HGNC	AJ131358	CCDS6041.1, CCDS47827.1	8p21.3	2014-05-16	2004-09-22	2004-09-22	ENSG00000197217	ENSG00000197217			14573	protein-coding gene	gene with protein product		607577	"""lysosomal apyrase-like 1"""	LYSAL1		10393803, 9205841	Standard	NM_001128930		Approved	LALP70, LAP70, KIAA0392, NTPDase-4, UDPase	uc003xdl.3	Q9Y227	OTTHUMG00000097852	ENST00000358689.4:c.1683C>A	8.37:g.23290607G>T		Somatic	0	66	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	87	9.28	D3DSS3|O15092	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_GDA1_CD39_NTPase	p.V561	ENST00000358689.4	37	c.1683	CCDS6041.1	8																																																																																			-	NULL		0.602	ENTPD4-001	KNOWN	basic|CCDS	protein_coding	ENTPD4	protein_coding	OTTHUMT00000215142.1	G	NM_004901	-		23290607	-1	no_errors	ENST00000358689	ensembl	human	known	74_37	silent	SNP	1.000	T
SPRTN	83932	genome.wustl.edu	37	1	231475793	231475794	+	Intron	INS	-	-	A	rs3071954		TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr1:231475793_231475794insA	ENST00000295050.7	+	2	657				SPRTN_ENST00000008440.9_Intron|SPRTN_ENST00000391858.4_Intron|EXOC8_ENST00000366645.1_5'Flank|EXOC8_ENST00000360394.2_5'Flank	NM_001010984.2|NM_032018.5	NP_001010984.1|NP_114407.3	Q9H040	SPRTN_HUMAN	SprT-like N-terminal domain						cellular response to DNA damage stimulus (GO:0006974)|positive regulation of protein ubiquitination (GO:0031398)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|K63-linked polyubiquitin binding (GO:0070530)|metal ion binding (GO:0046872)|ubiquitin binding (GO:0043130)										TGCTTCATAGTAAAAAAAAAAA	0.441																																																	0								ENSG00000010072																																			SPRTN	SO:0001627	intron_variant	0				HGNC	AL512744	CCDS1594.1, CCDS31054.1, CCDS58066.1	1q42.12-q43	2013-01-30	2012-06-18	2012-06-18	ENSG00000010072	ENSG00000010072			25356	protein-coding gene	gene with protein product	"""SprT-like domain at the N terminus"", ""DNA damage-targeting VCP (p97) adaptor"""		"""chromosome 1 open reading frame 124"""	C1orf124		22681887	Standard	NM_032018		Approved	DKFZP547N043, Spartan, DVC1	uc001hur.4	Q9H040	OTTHUMG00000038022	ENST00000295050.7:c.321+179->A	1.37:g.231475804_231475804dupA		Somatic	0	14	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	10	23.08	B1AKT0|B5MEF7|Q5TE78|Q6UWW6|Q96BC5|Q96KA0	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000295050.7	37	NULL	CCDS1594.1	1																																																																																			-	-		0.441	SPRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRTN	protein_coding	OTTHUMT00000092858.1	-	NM_032018			231475794	+1	no_errors	ENST00000492437	ensembl	human	known	74_37	rna	INS	0.000:0.000	A
ZP1	22917	genome.wustl.edu	37	11	60643004	60643004	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr11:60643004A>G	ENST00000278853.5	+	12	1792	c.1792A>G	c.(1792-1794)Agc>Ggc	p.S598G		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	598					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						TGGGAACTCCAGCCTGAGACC	0.607																																																	0								ENSG00000149506						75.0	61.0	66.0					11																	60643004		2203	4299	6502	ZP1	SO:0001583	missense	0			-	HGNC	BC067899	CCDS31572.1	11q12.2	2013-01-17			ENSG00000149506	ENSG00000149506		"""Zona pellucida glycoproteins"""	13187	protein-coding gene	gene with protein product		195000				10542331	Standard	NM_207341		Approved		uc001nqd.3	P60852	OTTHUMG00000167797	ENST00000278853.5:c.1792A>G	11.37:g.60643004A>G	ENSP00000278853:p.Ser598Gly	Somatic	0	36	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_ZP_dom,superfamily_P_trefoil,smart_P_trefoil,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	p.S598G	ENST00000278853.5	37	c.1792	CCDS31572.1	11	.	.	.	.	.	.	.	.	.	.	A	4.590	0.109694	0.08780	.	.	ENSG00000149506	ENST00000278853;ENST00000544498	T	0.23348	1.91	4.46	2.0	0.26442	.	1.900150	0.02600	N	0.100938	T	0.15739	0.0379	N	0.12182	0.205	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.21211	-1.0252	10	0.21014	T	0.42	-1.2978	6.7786	0.23634	0.7972:0.0:0.2028:0.0	.	598	P60852	ZP1_HUMAN	G	598;305	ENSP00000278853:S598G	ENSP00000278853:S598G	S	+	1	0	ZP1	60399580	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.308000	0.19314	0.267000	0.21916	0.533000	0.62120	AGC	-	NULL		0.607	ZP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZP1	protein_coding	OTTHUMT00000396329.1	A	NM_207341	-		60643004	+1	no_errors	ENST00000278853	ensembl	human	known	74_37	missense	SNP	0.000	G
EPHA2	1969	genome.wustl.edu	37	1	16458297	16458297	+	Silent	SNP	G	G	A			TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr1:16458297G>A	ENST00000358432.5	-	14	2548	c.2394C>T	c.(2392-2394)agC>agT	p.S798S		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	798	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	TCCACACGTCGCTGGCAGAGG	0.637																																																	0								ENSG00000142627						82.0	73.0	76.0					1																	16458297		2203	4300	6503	EPHA2	SO:0001819	synonymous_variant	0			-	HGNC	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.2394C>T	1.37:g.16458297G>A		Somatic	0	39	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	B5A968|Q8N3Z2	Silent	SNP	NA	NA	NA	NA	NA	NA	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.S798	ENST00000358432.5	37	c.2394	CCDS169.1	1																																																																																			-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.637	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA2	protein_coding	OTTHUMT00000026322.1	G	NM_004431	-		16458297	-1	no_errors	ENST00000358432	ensembl	human	known	74_37	silent	SNP	0.865	A
SDAD1	55153	genome.wustl.edu	37	4	76894479	76894479	+	Silent	SNP	G	G	T	rs199638357		TCGA-DX-A48L-01A-11D-A307-09	TCGA-DX-A48L-10A-01D-A307-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55dccaa-44da-4482-93a8-7853325f5bea	b83395ce-e95f-4de3-a722-0e785b4e2887	g.chr4:76894479G>T	ENST00000356260.5	-	8	820	c.702C>A	c.(700-702)tcC>tcA	p.S234S	SDAD1_ENST00000395711.4_Silent_p.S197S|SDAD1_ENST00000513089.1_5'UTR	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	234					actin cytoskeleton organization (GO:0030036)|protein transport (GO:0015031)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal large subunit export from nucleus (GO:0000055)	nucleolus (GO:0005730)				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CCTCAGATTCGGAGTCACTGT	0.358																																																	0								ENSG00000198301						140.0	137.0	138.0					4																	76894479		2203	4300	6503	SDAD1	SO:0001819	synonymous_variant	0			-	HGNC	AF132198	CCDS3573.2, CCDS75147.1	4q21.21	2010-11-24			ENSG00000198301	ENSG00000198301			25537	protein-coding gene	gene with protein product						11483580	Standard	NM_001288984		Approved	FLJ10498	uc003hje.4	Q9NVU7	OTTHUMG00000130111	ENST00000356260.5:c.702C>A	4.37:g.76894479G>T		Somatic	0	25	0.00		0.6332294983257847	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.79	Q32Q11|Q68D52|Q7Z5U4|Q9H831|Q9H9P6	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_SDA1_dom,pfam_Uncharacterised_NUC130/133_N,superfamily_ARM-type_fold	p.S234	ENST00000356260.5	37	c.702	CCDS3573.2	4																																																																																			-	superfamily_ARM-type_fold		0.358	SDAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDAD1	protein_coding	OTTHUMT00000252418.3	G	NM_018115	-		76894479	-1	no_errors	ENST00000356260	ensembl	human	known	74_37	silent	SNP	0.859	T
