#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
PRSS35	167681	genome.wustl.edu	37	6	84234189	84234189	+	Silent	SNP	G	G	A			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr6:84234189G>A	ENST00000369700.3	+	2	1206	c.1029G>A	c.(1027-1029)tcG>tcA	p.S343S	PRSS35_ENST00000536636.1_Silent_p.S343S	NM_153362.2	NP_699193.2	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	343	Peptidase S1.					extracellular region (GO:0005576)|mitochondrion (GO:0005739)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		ATGCTGAGTCGGGCTCCACCG	0.502																																																	0								ENSG00000146250						102.0	103.0	102.0					6																	84234189		2203	4300	6503	PRSS35	SO:0001819	synonymous_variant	0			-	HGNC	BC037170	CCDS4999.1	6q14.2	2010-05-12	2004-07-09	2004-07-09	ENSG00000146250	ENSG00000146250		"""Serine peptidases / Serine peptidases"""	21387	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 158"""	C6orf158			Standard	NM_153362		Approved	MGC46520, dJ223E3.1	uc003pjz.3	Q8N3Z0	OTTHUMG00000015113	ENST00000369700.3:c.1029G>A	6.37:g.84234189G>A		Somatic	0	51	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	13	31.58	A8K7B3|Q9BQP6	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom	p.S343	ENST00000369700.3	37	c.1029	CCDS4999.1	6																																																																																			-	superfamily_Trypsin-like_Pept_dom		0.502	PRSS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS35	protein_coding	OTTHUMT00000041352.1	G	NM_153362	-		84234189	+1	no_errors	ENST00000369700	ensembl	human	known	74_37	silent	SNP	0.111	A
GCSH	2653	genome.wustl.edu	37	16	81116509	81116509	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr16:81116509C>A	ENST00000315467.3	-	5	608	c.484G>T	c.(484-486)Gaa>Taa	p.E162*	RP11-303E16.8_ENST00000564536.1_RNA	NM_004483.4	NP_004474.2	P23434	GCSH_HUMAN	glycine cleavage system protein H (aminomethyl carrier)	162					glycine catabolic process (GO:0006546)|glycine decarboxylation via glycine cleavage system (GO:0019464)|methylation (GO:0032259)	glycine cleavage complex (GO:0005960)|mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(2)	5					Glycine(DB00145)	TCATATGCTTCTTCACTCATA	0.343																																																	0								ENSG00000140905						81.0	83.0	82.0					16																	81116509		2202	4296	6498	GCSH	SO:0001587	stop_gained	0			-	HGNC	M69175	CCDS10933.1	16q23.2	2014-09-17			ENSG00000140905	ENSG00000140905			4208	protein-coding gene	gene with protein product	"""lipoic acid-containing protein"""	238330				1671321, 2025283	Standard	NM_004483		Approved		uc002fgd.3	P23434	OTTHUMG00000137626	ENST00000315467.3:c.484G>T	16.37:g.81116509C>A	ENSP00000319531:p.Glu162*	Somatic	0	85	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	Q9H1E9	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GCV_H,superfamily_Single_hybrid_motif,tigrfam_GCV_H_sub	p.E162*	ENST00000315467.3	37	c.484	CCDS10933.1	16	.	.	.	.	.	.	.	.	.	.	C	21.0	4.076755	0.76415	.	.	ENSG00000140905	ENST00000315467	.	.	.	5.4	5.4	0.78164	.	0.251990	0.45126	D	0.000384	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	19.5372	0.95257	0.0:1.0:0.0:0.0	.	.	.	.	X	162	.	ENSP00000319531:E162X	E	-	1	0	GCSH	79674010	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	4.010000	0.57117	2.692000	0.91855	0.591000	0.81541	GAA	-	pfam_GCV_H,superfamily_Single_hybrid_motif,tigrfam_GCV_H_sub		0.343	GCSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCSH	protein_coding	OTTHUMT00000269049.1	C	NM_004483	-		81116509	-1	no_errors	ENST00000315467	ensembl	human	known	74_37	nonsense	SNP	1.000	A
HSP90AB1	3326	genome.wustl.edu	37	6	44221273	44221273	+	Missense_Mutation	SNP	C	C	G	rs559392885		TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr6:44221273C>G	ENST00000371554.1	+	12	2327	c.2113C>G	c.(2113-2115)Cct>Gct	p.P705A	MIR4647_ENST00000583964.1_RNA|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.P705A|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.P705A|SLC35B2_ENST00000495706.1_5'Flank			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	705					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGCTGCAGTTCCTGATGAGAT	0.453											OREG0017471	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000096384						78.0	79.0	79.0					6																	44221273		2203	4300	6503	HSP90AB1	SO:0001583	missense	0			-	HGNC	AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"""Heat shock proteins / HSPC"""	5258	protein-coding gene	gene with protein product		140572	"""heat shock 90kD protein 1, beta"", ""heat shock 90kDa protein 1, beta"""	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.2113C>G	6.37:g.44221273C>G	ENSP00000360609:p.Pro705Ala	Somatic	0	49	0.00	922	0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	25	16.67	B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pirsf_Hsp90_fam,prints_Hsp90_N	p.P705A	ENST00000371554.1	37	c.2113	CCDS4909.1	6	.	.	.	.	.	.	.	.	.	.	C	9.258	1.042520	0.19748	.	.	ENSG00000096384	ENST00000371646;ENST00000353801;ENST00000371554	T;T;T	0.08193	3.12;3.12;3.12	3.91	3.91	0.45181	.	0.082718	0.49916	U	0.000126	T	0.01029	0.0034	N	0.02751	-0.505	0.58432	D	0.999993	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.004;0.004;0.004	T	0.46911	-0.9157	10	0.12766	T	0.61	-14.7569	7.2382	0.26082	0.0:0.733:0.1736:0.0933	.	667;695;705	B4DMA2;B4DGL0;P08238	.;.;HS90B_HUMAN	A	705	ENSP00000360709:P705A;ENSP00000325875:P705A;ENSP00000360609:P705A	ENSP00000325875:P705A	P	+	1	0	HSP90AB1	44329251	0.996000	0.38824	1.000000	0.80357	0.825000	0.46686	1.855000	0.39378	2.188000	0.69820	0.609000	0.83330	CCT	-	pfam_Hsp90_fam,pirsf_Hsp90_fam		0.453	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HSP90AB1	protein_coding	OTTHUMT00000040730.1	C	NM_007355	-		44221273	+1	no_errors	ENST00000353801	ensembl	human	known	74_37	missense	SNP	1.000	G
TROVE2	6738	genome.wustl.edu	37	1	193054347	193054347	+	3'UTR	DEL	A	A	-	rs567626813|rs56152513		TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr1:193054347delA	ENST00000367446.3	+	0	2313				TROVE2_ENST00000460715.2_3'UTR|TROVE2_ENST00000432079.1_3'UTR|TROVE2_ENST00000367445.3_Intron|TROVE2_ENST00000367444.3_Intron|TROVE2_ENST00000367443.1_Intron	NM_004600.5	NP_004591.2	P10155	RO60_HUMAN	TROVE domain family, member 2						cilium morphogenesis (GO:0060271)|immune system development (GO:0002520)|response to UV (GO:0009411)|smoothened signaling pathway (GO:0007224)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|RNA binding (GO:0003723)|U2 snRNA binding (GO:0030620)			biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1)	21						CCAAGGGGGTAAAAAAAAAAA	0.299																																																	0								ENSG00000116747																																			TROVE2	SO:0001624	3_prime_UTR_variant	0				HGNC	BC036658	CCDS41449.1, CCDS1379.1, CCDS41450.1, CCDS41450.2, CCDS53451.1	1q31	2014-08-06	2005-06-14	2005-06-14	ENSG00000116747	ENSG00000116747			11313	protein-coding gene	gene with protein product		600063	"""Sjogren syndrome antigen A2 (60kDa, ribonucleoprotein autoantigen SS-A/Ro)"""	SSA2		8188321	Standard	NM_001042369		Approved	Ro60	uc001gss.3	P10155	OTTHUMG00000035675	ENST00000367446.3:c.*486A>-	1.37:g.193054347delA		Somatic	0	54	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	20	13.04	B2RBB9|Q5LJ98|Q5LJ99|Q5LJA0|Q86WL3|Q86WL4|Q92787|Q9H1W6	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000367446.3	37	NULL	CCDS1379.1	1																																																																																			-	-		0.299	TROVE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TROVE2	protein_coding	OTTHUMT00000086688.1	A	NM_004600			193054347	+1	no_errors	ENST00000460715	ensembl	human	known	74_37	rna	DEL	0.000	-
TSTD3	100130890	genome.wustl.edu	37	6	99968898	99968899	+	RNA	INS	-	-	GCGCC			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr6:99968898_99968899insGCGCC	ENST00000452647.2	+	0	330_331							H0UI37	TSTD3_HUMAN	thiosulfate sulfurtransferase (rhodanese)-like domain containing 3																		GCCGGAGCAGGAGGAGAAGGAG	0.683											OREG0017579	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000228439																																			TSTD3			0				HGNC			6q16.2	2012-07-04			ENSG00000228439	ENSG00000228439			40910	protein-coding gene	gene with protein product							Standard	NM_001195131		Approved		uc021zde.1	H0UI37	OTTHUMG00000015265		6.37:g.99968898_99968899insGCGCC		Somatic	NA	NA	NA	1347	0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA		RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000452647.2	37	NULL		6																																																																																			-	-		0.683	TSTD3-001	KNOWN	basic	antisense	TSTD3	antisense	OTTHUMT00000041605.2	-	NM_001195131			99968899	+1	no_errors	ENST00000452647	ensembl	human	known	74_37	rna	INS	0.000:0.000	GCGCC
UNC13D	201294	genome.wustl.edu	37	17	73836333	73836333	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr17:73836333G>T	ENST00000207549.4	-	10	1210	c.831C>A	c.(829-831)caC>caA	p.H277Q	UNC13D_ENST00000412096.2_Missense_Mutation_p.H277Q|UNC13D_ENST00000587504.1_5'UTR	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	277	Interaction with RAB27A.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGAACTGGAGGTGGCACTGGC	0.672									Familial Hemophagocytic Lymphohistiocytosis																																								0								ENSG00000092929						58.0	52.0	54.0					17																	73836333		2203	4300	6503	UNC13D	SO:0001583	missense	0	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	-	HGNC	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.831C>A	17.37:g.73836333G>T	ENSP00000207549:p.His277Gln	Somatic	0	27	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	53	8.62	B4DWG9|Q9H7K5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_C2_dom,pfam_Munc13_subgr_dom-2,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.H277Q	ENST00000207549.4	37	c.831	CCDS11730.1	17	.	.	.	.	.	.	.	.	.	.	G	19.01	3.744470	0.69418	.	.	ENSG00000092929	ENST00000207549;ENST00000412096;ENST00000448606	T;T	0.69926	-0.43;-0.44	4.56	3.59	0.41128	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.74869	0.3773	L	0.51422	1.61	0.58432	D	0.999993	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.965	T	0.72404	-0.4304	10	0.33141	T	0.24	-28.6764	12.5079	0.55991	0.0807:0.0:0.9193:0.0	.	277;277	B4DTQ6;Q70J99	.;UN13D_HUMAN	Q	277	ENSP00000207549:H277Q;ENSP00000388093:H277Q	ENSP00000207549:H277Q	H	-	3	2	UNC13D	71347928	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.053000	0.64269	1.134000	0.42165	0.563000	0.77884	CAC	-	superfamily_C2_dom		0.672	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC13D	protein_coding	OTTHUMT00000448847.2	G	XM_113950	-		73836333	-1	no_errors	ENST00000412096	ensembl	human	known	74_37	missense	SNP	1.000	T
GGT7	2686	genome.wustl.edu	37	20	33432915	33432916	+	3'UTR	INS	-	-	CACCAC	rs143837915|rs372075951|rs79530197|rs369783775		TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr20:33432915_33432916insCACCAC	ENST00000336431.5	-	0	2248_2249				GGT7_ENST00000469018.1_5'UTR	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7						glutathione biosynthetic process (GO:0006750)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)|integral component of membrane (GO:0016021)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						ATGCTGACACTcaccaccacca	0.564																																																	0								ENSG00000131067																																			GGT7	SO:0001624	3_prime_UTR_variant	0				HGNC	AL049709	CCDS13242.2	20q11.22	2008-11-24	2008-03-10	2008-03-10	ENSG00000131067	ENSG00000131067		"""Gamma-glutamyltransferases"""	4259	protein-coding gene	gene with protein product		612342	"""gamma-glutamyltransferase-like 3"""	GGTL5, GGTL3		8104871, 18357469	Standard	NM_178026		Approved	D20S101, dJ18C9.2	uc002xay.3	Q9UJ14	OTTHUMG00000032314	ENST00000336431.5:c.*216->GTGGTG	20.37:g.33432916_33432921dupCACCAC		Somatic	NA	NA	NA		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	Q8N899|Q8NF66|Q9BYP5|Q9BYP6	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000336431.5	37	NULL	CCDS13242.2	20																																																																																			-	-		0.564	GGT7-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	GGT7	protein_coding	OTTHUMT00000078816.2	-	NM_178026			33432916	-1	no_errors	ENST00000469018	ensembl	human	known	74_37	rna	INS	0.062:0.008	CACCAC
BZRAP1	9256	genome.wustl.edu	37	17	56382430	56382430	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr17:56382430C>A	ENST00000343736.4	-	30	5699	c.5536G>T	c.(5536-5538)Gag>Tag	p.E1846*	BZRAP1_ENST00000355701.3_Nonsense_Mutation_p.E1846*|BZRAP1_ENST00000268893.6_Nonsense_Mutation_p.E1786*			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1846						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACCTGACTCTCAGCCTGGGGT	0.647																																																	0								ENSG00000005379						41.0	46.0	44.0					17																	56382430		2203	4300	6503	BZRAP1	SO:0001587	stop_gained	0			-	HGNC	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.5536G>T	17.37:g.56382430C>A	ENSP00000345824:p.Glu1846*	Somatic	0	60	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	40	32.20	O75111|Q8N5W3	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain	p.E1846*	ENST00000343736.4	37	c.5536	CCDS11605.1	17	.	.	.	.	.	.	.	.	.	.	C	18.60	3.659148	0.67586	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	.	.	.	5.42	4.45	0.53987	.	0.645746	0.16081	N	0.230483	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	10.6242	0.45497	0.0:0.9108:0.0:0.0892	.	.	.	.	X	1846;1846;1786	.	ENSP00000268893:E1786X	E	-	1	0	BZRAP1	53737429	0.988000	0.35896	0.628000	0.29241	0.579000	0.36224	2.914000	0.48797	2.575000	0.86900	0.449000	0.29647	GAG	-	NULL		0.647	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	BZRAP1	protein_coding	OTTHUMT00000443980.1	C	NM_004758	-		56382430	-1	no_errors	ENST00000355701	ensembl	human	known	74_37	nonsense	SNP	0.533	A
MTCL1	23255	genome.wustl.edu	37	18	8831766	8831766	+	Silent	SNP	C	C	T	rs547391897		TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr18:8831766C>T	ENST00000518815.1	+	10	2953	c.2859C>T	c.(2857-2859)ggC>ggT	p.G953G	SOGA2_ENST00000581670.1_3'UTR|SOGA2_ENST00000517570.1_3'UTR|SOGA2_ENST00000306285.7_Silent_p.G953G|SOGA2_ENST00000359865.3_3'UTR|SOGA2_ENST00000400050.3_3'UTR																							AGCATGGTGGCGAGGAGCCGC	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		16308	0.0		0.0	False		,,,				2504	0.001																0								ENSG00000168502																																			SOGA2	SO:0001819	synonymous_variant	0			-	HGNC																												ENST00000518815.1:c.2859C>T	18.37:g.8831766C>T		Somatic	0	32	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	19	24.00		Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.G953	ENST00000518815.1	37	c.2859		18																																																																																			-	NULL		0.582	SOGA2-006	KNOWN	upstream_ATG|basic	protein_coding	SOGA2	protein_coding	OTTHUMT00000379407.5	C		-		8831766	+1	no_errors	ENST00000306285	ensembl	human	known	74_37	silent	SNP	0.000	T
UNC5C	8633	genome.wustl.edu	37	4	96091480	96091480	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr4:96091480G>T	ENST00000453304.1	-	15	2803	c.2455C>A	c.(2455-2457)Cct>Act	p.P819T		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	819					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		ATGCCAGTAGGTTCCTGTAGT	0.498																																																	0								ENSG00000182168						117.0	109.0	112.0					4																	96091480		2203	4300	6503	UNC5C	SO:0001583	missense	0			-	HGNC	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.2455C>A	4.37:g.96091480G>T	ENSP00000406022:p.Pro819Thr	Somatic	0	49	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	29	12.12	Q8IUT0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_ZU5,pfam_Death_domain,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom	p.P819T	ENST00000453304.1	37	c.2455	CCDS3643.1	4	.	.	.	.	.	.	.	.	.	.	G	6.664	0.491069	0.12702	.	.	ENSG00000182168	ENST00000453304;ENST00000331502	T	0.49432	0.78	5.64	5.64	0.86602	.	0.303719	0.37012	N	0.002286	T	0.34716	0.0907	N	0.19112	0.55	0.80722	D	1	B	0.20164	0.042	B	0.16289	0.015	T	0.14896	-1.0456	10	0.11485	T	0.65	.	19.8946	0.96949	0.0:0.0:1.0:0.0	.	819	O95185	UNC5C_HUMAN	T	819;778	ENSP00000406022:P819T	ENSP00000328673:P778T	P	-	1	0	UNC5C	96310503	1.000000	0.71417	0.994000	0.49952	0.688000	0.40055	4.493000	0.60341	2.937000	0.99478	0.650000	0.86243	CCT	-	NULL		0.498	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC5C	protein_coding	OTTHUMT00000253607.1	G	NM_003728	-		96091480	-1	no_errors	ENST00000453304	ensembl	human	known	74_37	missense	SNP	0.985	T
BMS1	9790	genome.wustl.edu	37	10	43285807	43285807	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr10:43285807A>G	ENST00000374518.5	+	5	547	c.484A>G	c.(484-486)Atg>Gtg	p.M162V		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	162	Bms1-type G.				ribosome assembly (GO:0042255)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGGGTTTGAAATGGAAACGTT	0.393																																																	0								ENSG00000165733						144.0	144.0	144.0					10																	43285807		2203	4298	6501	BMS1	SO:0001583	missense	0			-	HGNC	BC043345	CCDS7199.1	10q11.21	2013-05-01	2013-05-01	2007-03-20	ENSG00000165733	ENSG00000165733			23505	protein-coding gene	gene with protein product		611448	"""BMS1-like, ribosome assembly protein (yeast)"", ""BMS1 homolog, ribosome assembly protein (yeast)"""	BMS1L		11779832	Standard	NM_014753		Approved	KIAA0187	uc001jaj.3	Q14692	OTTHUMG00000018020	ENST00000374518.5:c.484A>G	10.37:g.43285807A>G	ENSP00000363642:p.Met162Val	Somatic	0	349	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	81	178	31.27	Q5QPT5|Q86XJ9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_BMS1_TSR1_C,pfam_AARP2CN,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_AARP2CN	p.M162V	ENST00000374518.5	37	c.484	CCDS7199.1	10	.	.	.	.	.	.	.	.	.	.	a	22.2	4.253865	0.80135	.	.	ENSG00000165733	ENST00000374518	T	0.10763	2.84	5.28	5.28	0.74379	Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	T	0.30135	0.0755	M	0.74258	2.255	0.54753	D	0.999985	D	0.54772	0.968	P	0.60886	0.88	T	0.01839	-1.1263	10	0.42905	T	0.14	.	15.3524	0.74399	1.0:0.0:0.0:0.0	.	162	Q14692	BMS1_HUMAN	V	162	ENSP00000363642:M162V	ENSP00000363642:M162V	M	+	1	0	BMS1	42605813	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.125000	0.94402	2.030000	0.59900	0.402000	0.26972	ATG	-	pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase		0.393	BMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMS1	protein_coding	OTTHUMT00000047690.2	A	NM_014753	-		43285807	+1	no_errors	ENST00000374518	ensembl	human	known	74_37	missense	SNP	1.000	G
TENM3	55714	genome.wustl.edu	37	4	183522238	183522238	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr4:183522238G>A	ENST00000511685.1	+	4	796	c.673G>A	c.(673-675)Gag>Aag	p.E225K	TENM3_ENST00000406950.2_Missense_Mutation_p.E225K			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	225	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TTTGCCCGCCGAGCTGCAAAC	0.532																																																	0								ENSG00000218336						71.0	80.0	77.0					4																	183522238		1874	4104	5978	TENM3	SO:0001583	missense	0			-	HGNC	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.673G>A	4.37:g.183522238G>A	ENSP00000424226:p.Glu225Lys	Somatic	0	88	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	119	38	75.80	Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.E225K	ENST00000511685.1	37	c.673	CCDS47165.1	4	.	.	.	.	.	.	.	.	.	.	G	19.04	3.750736	0.69533	.	.	ENSG00000218336	ENST00000511685;ENST00000406950;ENST00000510504	T;T;T	0.41758	0.99;0.99;0.99	5.78	5.78	0.91487	Teneurin intracellular, N-terminal (2);	.	.	.	.	T	0.33440	0.0863	L	0.29908	0.895	0.58432	D	0.999999	P	0.52061	0.95	B	0.37550	0.253	T	0.13308	-1.0514	9	0.44086	T	0.13	.	20.0015	0.97412	0.0:0.0:1.0:0.0	.	225	Q9P273	TEN3_HUMAN	K	225;225;83	ENSP00000424226:E225K;ENSP00000385276:E225K;ENSP00000426914:E83K	ENSP00000385276:E225K	E	+	1	0	ODZ3	183759232	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.471000	0.97696	2.718000	0.92993	0.557000	0.71058	GAG	-	pfam_Ten_N		0.532	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM3	protein_coding	OTTHUMT00000361734.1	G		-		183522238	+1	no_errors	ENST00000406950	ensembl	human	known	74_37	missense	SNP	1.000	A
WNK2	65268	genome.wustl.edu	37	9	96061384	96061384	+	Missense_Mutation	SNP	G	G	A	rs147749673		TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr9:96061384G>A	ENST00000297954.4	+	25	6067	c.6067G>A	c.(6067-6069)Gct>Act	p.A2023T	WNK2_ENST00000395477.2_Missense_Mutation_p.A1986T|WNK2_ENST00000427277.2_Missense_Mutation_p.A1598T|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000356055.3_Missense_Mutation_p.A348T|WNK2_ENST00000349097.3_Missense_Mutation_p.A1635T	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	2023					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						AGGCCCTCCCGCTAAGGACCC	0.697																																																	0								ENSG00000165238	G	THR/ALA	1,4391		0,1,2195	22.0	23.0	22.0		5956	3.5	1.0	9	dbSNP_134	22	0,8580		0,0,4290	no	missense	WNK2	NM_006648.3	58	0,1,6485	AA,AG,GG		0.0,0.0228,0.0077	benign	1986/2218	96061384	1,12971	2196	4290	6486	WNK2	SO:0001583	missense	0			-	HGNC	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.6067G>A	9.37:g.96061384G>A	ENSP00000297954:p.Ala2023Thr	Somatic	0	59	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	43	25.86	Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.A2023T	ENST00000297954.4	37	c.6067		9	.	.	.	.	.	.	.	.	.	.	G	14.38	2.518380	0.44763	2.28E-4	0.0	ENSG00000165238	ENST00000297954;ENST00000395477;ENST00000349097;ENST00000427277;ENST00000356055	T;T;T;T;D	0.83506	-0.54;-0.52;0.08;0.09;-1.73	5.54	3.48	0.39840	.	0.582952	0.16714	N	0.202552	T	0.71187	0.3310	L	0.50333	1.59	0.23820	N	0.996755	P;P;B;P	0.49185	0.865;0.92;0.333;0.9	B;B;B;B	0.35278	0.199;0.153;0.071;0.106	T	0.60601	-0.7231	10	0.18276	T	0.48	.	7.9022	0.29742	0.0772:0.1112:0.6864:0.1251	.	1986;1981;1986;2023	Q9Y3S1-2;A6PVR3;F8W9F9;Q9Y3S1	.;.;.;WNK2_HUMAN	T	2023;1986;1635;1598;348	ENSP00000297954:A2023T;ENSP00000378860:A1986T;ENSP00000297876:A1635T;ENSP00000411181:A1598T;ENSP00000348347:A348T	ENSP00000297954:A2023T	A	+	1	0	WNK2	95101205	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.473000	0.45145	1.312000	0.45043	0.655000	0.94253	GCT	-	NULL		0.697	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	WNK2	protein_coding	OTTHUMT00000317359.1	G	NM_006648	rs147749673		96061384	+1	no_errors	ENST00000297954	ensembl	human	known	74_37	missense	SNP	0.998	A
CCDC13	152206	genome.wustl.edu	37	3	42781189	42781189	+	Silent	SNP	C	C	T			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr3:42781189C>T	ENST00000310232.6	-	9	1184	c.1101G>A	c.(1099-1101)aaG>aaA	p.K367K	CCDC13-AS1_ENST00000418161.1_RNA|CCDC13-AS1_ENST00000446950.1_RNA	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	367										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						CCATCTGACTCTTGAGGGTCT	0.567																																																	0								ENSG00000244607						171.0	150.0	157.0					3																	42781189		2203	4300	6503	CCDC13	SO:0001819	synonymous_variant	0			-	HGNC	AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.1101G>A	3.37:g.42781189C>T		Somatic	0	59	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	11	59.26		Silent	SNP	NA	NA	NA	NA	NA	NA	superfamily_Prefoldin	p.K367	ENST00000310232.6	37	c.1101	CCDS2705.1	3																																																																																			-	superfamily_Prefoldin		0.567	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC13	protein_coding	OTTHUMT00000256652.1	C	NM_144719	-		42781189	-1	no_errors	ENST00000310232	ensembl	human	known	74_37	silent	SNP	0.944	T
COPB2	9276	genome.wustl.edu	37	3	139087001	139087001	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr3:139087001C>G	ENST00000333188.5	-	13	1712	c.1531G>C	c.(1531-1533)Gaa>Caa	p.E511Q	COPB2_ENST00000507777.1_Missense_Mutation_p.E482Q	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	511					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						AAGGCATCTTCAATGCCATCT	0.348																																																	0								ENSG00000184432						130.0	122.0	125.0					3																	139087001		2203	4300	6503	COPB2	SO:0001583	missense	0			-	HGNC	BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"""WD repeat domain containing"""	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.1531G>C	3.37:g.139087001C>G	ENSP00000329419:p.Glu511Gln	Somatic	0	58	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	59	21.05	B4DZI8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pirsf_COPB2,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E511Q	ENST00000333188.5	37	c.1531	CCDS3108.1	3	.	.	.	.	.	.	.	.	.	.	C	34	5.317116	0.95682	.	.	ENSG00000184432	ENST00000333188;ENST00000507777;ENST00000512309	T;D	0.90133	-0.31;-2.62	5.97	5.97	0.96955	Coatomer, WD associated region (1);	0.000000	0.85682	D	0.000000	D	0.97046	0.9035	H	0.95437	3.67	0.80722	D	1	D	0.60575	0.988	D	0.71656	0.974	D	0.97392	0.9990	10	0.87932	D	0	-17.4844	20.4062	0.99009	0.0:1.0:0.0:0.0	.	511	P35606	COPB2_HUMAN	Q	511;482;134	ENSP00000329419:E511Q;ENSP00000422295:E482Q	ENSP00000329419:E511Q	E	-	1	0	COPB2	140569691	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.682000	0.84083	2.831000	0.97527	0.655000	0.94253	GAA	-	pirsf_COPB2,pfam_Coatomer_WD-assoc_reg		0.348	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPB2	protein_coding	OTTHUMT00000358495.2	C	NM_004766	-		139087001	-1	no_errors	ENST00000333188	ensembl	human	known	74_37	missense	SNP	1.000	G
FYCO1	79443	genome.wustl.edu	37	3	45996750	45996750	+	Missense_Mutation	SNP	G	G	A	rs140583635		TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr3:45996750G>A	ENST00000296137.2	-	14	4140	c.3935C>T	c.(3934-3936)gCg>gTg	p.A1312V	FYCO1_ENST00000535325.1_Missense_Mutation_p.A1312V|FYCO1_ENST00000438446.1_5'UTR	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1312					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CTGTTCAGCCGCATTTGGGTC	0.498																																																	0								ENSG00000163820	G	VAL/ALA	0,4406		0,0,2203	176.0	181.0	179.0		3935	3.4	0.2	3	dbSNP_134	179	1,8599	1.2+/-3.3	0,1,4299	no	missense	FYCO1	NM_024513.2	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	1312/1479	45996750	1,13005	2203	4300	6503	FYCO1	SO:0001583	missense	0			-	HGNC	AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"""Zinc fingers, FYVE domain containing"""	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.3935C>T	3.37:g.45996750G>A	ENSP00000296137:p.Ala1312Val	Somatic	0	67	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	22	12.00	B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel	p.A1312V	ENST00000296137.2	37	c.3935	CCDS2734.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	0.144|0.144	-1.099395|-1.099395	0.01843|0.01843	0.0|0.0	1.16E-4|1.16E-4	ENSG00000163820|ENSG00000163820	ENST00000296137;ENST00000535325|ENST00000433878	T;T|.	0.20598|.	2.06;2.13|.	5.82|5.82	3.37|3.37	0.38596|0.38596	.|.	1.153750|.	0.06193|.	N|.	0.681750|.	T|T	0.08088|0.08088	0.0202|0.0202	N|N	0.00436|0.00436	-1.5|-1.5	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.32955|0.32955	-0.9887|-0.9887	10|5	0.02654|.	T|.	1|.	-2.141|-2.141	9.5319|9.5319	0.39198|0.39198	0.8598:0.0:0.1402:0.0|0.8598:0.0:0.1402:0.0	.|.	1312;1312|.	B7ZKT7;Q9BQS8|.	.;FYCO1_HUMAN|.	V|W	1312|101	ENSP00000296137:A1312V;ENSP00000441178:A1312V|.	ENSP00000296137:A1312V|.	A|R	-|-	2|1	0|2	FYCO1|FYCO1	45971754|45971754	0.324000|0.324000	0.24652|0.24652	0.162000|0.162000	0.22713|0.22713	0.435000|0.435000	0.31806|0.31806	1.668000|1.668000	0.37481|0.37481	0.435000|0.435000	0.26365|0.26365	-0.285000|-0.285000	0.09966|0.09966	GCG|CGG	-	NULL		0.498	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FYCO1	protein_coding	OTTHUMT00000257320.2	G	NM_024513	rs140583635		45996750	-1	no_errors	ENST00000535325	ensembl	human	known	74_37	missense	SNP	0.213	A
HTR3C	170572	genome.wustl.edu	37	3	183776228	183776228	+	Silent	SNP	G	G	A			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr3:183776228G>A	ENST00000318351.1	+	6	607	c.573G>A	c.(571-573)ctG>ctA	p.L191L		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	191					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		Ergoloid mesylate(DB01049)	ACAGCATGCTGCTGGGCATGG	0.582																																																	0								ENSG00000178084						79.0	67.0	71.0					3																	183776228		2203	4300	6503	HTR3C	SO:0001819	synonymous_variant	0			-	HGNC	AF459285	CCDS3250.1	3q27	2012-05-22	2012-02-03		ENSG00000178084	ENSG00000178084		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	24003	protein-coding gene	gene with protein product		610121	"""5-hydroxytryptamine (serotonin) receptor 3, family member C"""			12801637, 15157181	Standard	NM_130770		Approved		uc003fmk.3	Q8WXA8	OTTHUMG00000156862	ENST00000318351.1:c.573G>A	3.37:g.183776228G>A		Somatic	0	51	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	16	15.79	A2RRR5	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel	p.L191	ENST00000318351.1	37	c.573	CCDS3250.1	3																																																																																			-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd		0.582	HTR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR3C	protein_coding	OTTHUMT00000346296.1	G	NM_130770	-		183776228	+1	no_errors	ENST00000318351	ensembl	human	known	74_37	silent	SNP	0.000	A
AIM1	202	genome.wustl.edu	37	6	106967940	106967940	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr6:106967940G>C	ENST00000369066.3	+	2	2120	c.1633G>C	c.(1633-1635)Gtc>Ctc	p.V545L		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TCCATCCAGAGTCCTCGTCCA	0.532																																																	0								ENSG00000112297						63.0	65.0	65.0					6																	106967940		2203	4300	6503	AIM1	SO:0001583	missense	0			-	HGNC	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.1633G>C	6.37:g.106967940G>C	ENSP00000358062:p.Val545Leu	Somatic	0	62	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	39	18.75	Q6P2P0|Q9BTM3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.V545L	ENST00000369066.3	37	c.1633	CCDS34506.1	6	.	.	.	.	.	.	.	.	.	.	G	24.0	4.478075	0.84747	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	T	0.78481	-1.18	6.17	6.17	0.99709	.	0.575334	0.14526	N	0.314173	D	0.83344	0.5234	L	0.59436	1.845	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.79264	-0.1875	10	0.36615	T	0.2	.	16.3795	0.83443	0.0:0.0:1.0:0.0	.	545	Q9Y4K1	AIM1_HUMAN	L	953;545	ENSP00000358062:V545L	ENSP00000285105:V953L	V	+	1	0	AIM1	107074633	1.000000	0.71417	0.995000	0.50966	0.668000	0.39293	2.143000	0.42187	2.941000	0.99782	0.655000	0.94253	GTC	-	NULL		0.532	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIM1	protein_coding	OTTHUMT00000041669.1	G		-		106967940	+1	no_errors	ENST00000369066	ensembl	human	known	74_37	missense	SNP	0.994	C
DYRK4	8798	genome.wustl.edu	37	12	4705324	4705324	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr12:4705324G>A	ENST00000540757.2	+	5	452	c.292G>A	c.(292-294)Gat>Aat	p.D98N	DYRK4_ENST00000543431.1_Missense_Mutation_p.D98N|DYRK4_ENST00000010132.5_Missense_Mutation_p.D98N	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	98						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			GGTCCTGCATGATCACATTGC	0.557																																																	0								ENSG00000010219						127.0	131.0	130.0					12																	4705324		2203	4300	6503	DYRK4	SO:0001583	missense	0			-	HGNC	Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.292G>A	12.37:g.4705324G>A	ENSP00000441755:p.Asp98Asn	Somatic	0	45	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	11	31.25	A8K8F7|Q8NEF2|Q92631	Missense_Mutation	SNP	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.D98N	ENST00000540757.2	37	c.292	CCDS8530.1	12	.	.	.	.	.	.	.	.	.	.	G	35	5.532578	0.96446	.	.	ENSG00000010219	ENST00000542744;ENST00000540757;ENST00000010132;ENST00000543431	T;T;T;T	0.20332	2.08;2.08;2.08;2.08	5.58	5.58	0.84498	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.59046	0.2165	M	0.92833	3.35	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.69176	-0.5214	10	0.87932	D	0	.	19.1806	0.93622	0.0:0.0:1.0:0.0	.	213;98;98	F5H6L9;Q9NR20-2;Q9NR20	.;.;DYRK4_HUMAN	N	213;98;98;98	ENSP00000437534:D213N;ENSP00000441755:D98N;ENSP00000010132:D98N;ENSP00000439697:D98N	ENSP00000010132:D98N	D	+	1	0	DYRK4	4575585	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	9.566000	0.98157	2.629000	0.89072	0.655000	0.94253	GAT	-	superfamily_Kinase-like_dom		0.557	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DYRK4	protein_coding	OTTHUMT00000398780.2	G		-		4705324	+1	no_errors	ENST00000010132	ensembl	human	known	74_37	missense	SNP	1.000	A
ZNF711	7552	genome.wustl.edu	37	X	84520144	84520144	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chrX:84520144G>A	ENST00000373165.3	+	6	1105	c.799G>A	c.(799-801)Gag>Aag	p.E267K	ZNF711_ENST00000395402.1_Missense_Mutation_p.E245K|ZNF711_ENST00000360700.4_Missense_Mutation_p.E267K|ZNF711_ENST00000542798.1_Missense_Mutation_p.E63K|ZNF711_ENST00000276123.3_Missense_Mutation_p.E267K	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	267					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						AATTGTCACAGAGAGTGAGTA	0.373																																																	0								ENSG00000147180						74.0	71.0	72.0					X																	84520144		2202	4300	6502	ZNF711	SO:0001583	missense	0			-	HGNC	BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"""Zinc fingers, C2H2-type"""	13128	protein-coding gene	gene with protein product		314990	"""zinc finger protein 6 (CMPX1)"", ""zinc finger protein 6"""	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.799G>A	X.37:g.84520144G>A	ENSP00000362260:p.Glu267Lys	Somatic	0	147	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	47	66	41.59	B4DSV4|Q6NX42|Q9Y4J6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E245K	ENST00000373165.3	37	c.733	CCDS35344.1	X	.	.	.	.	.	.	.	.	.	.	G	28.9	4.960476	0.92791	.	.	ENSG00000147180	ENST00000395402;ENST00000373165;ENST00000276123;ENST00000360700;ENST00000542798	T;T;T;T;T	0.60548	0.18;0.18;0.18;0.18;0.18	5.12	5.12	0.69794	Transcriptional activator, Zfx / Zfy domain (1);	0.177280	0.26481	U	0.024123	T	0.65533	0.2700	M	0.70595	2.14	0.80722	D	1	P;P	0.49559	0.925;0.762	P;B	0.47162	0.54;0.381	T	0.71481	-0.4580	10	0.62326	D	0.03	-12.16	17.6722	0.88221	0.0:0.0:1.0:0.0	.	267;267	Q9Y462-3;Q9Y462	.;ZN711_HUMAN	K	245;267;267;267;63	ENSP00000378798:E245K;ENSP00000362260:E267K;ENSP00000276123:E267K;ENSP00000353922:E267K;ENSP00000442071:E63K	ENSP00000276123:E267K	E	+	1	0	ZNF711	84406800	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.222000	0.95196	2.101000	0.63845	0.506000	0.49869	GAG	-	pfam_Transcrp_activ_Zfx/Zfy-dom		0.373	ZNF711-001	KNOWN	basic|CCDS	protein_coding	ZNF711	protein_coding	OTTHUMT00000057388.2	G	NM_021998	-		84520144	+1	no_errors	ENST00000395402	ensembl	human	known	74_37	missense	SNP	1.000	A
ACSL6	23305	genome.wustl.edu	37	5	131307262	131307262	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr5:131307262C>T	ENST00000379240.1	-	14	1493	c.1340G>A	c.(1339-1341)cGg>cAg	p.R447Q	ACSL6_ENST00000543479.1_Missense_Mutation_p.R447Q|ACSL6_ENST00000544770.1_Missense_Mutation_p.R356Q|ACSL6_ENST00000379264.2_Missense_Mutation_p.R472Q|ACSL6_ENST00000379272.2_Missense_Mutation_p.R462Q|ACSL6_ENST00000296869.4_Missense_Mutation_p.R472Q|ACSL6_ENST00000379255.1_Missense_Mutation_p.R372Q|ACSL6_ENST00000379246.1_Missense_Mutation_p.R458Q|ACSL6_ENST00000379244.1_Missense_Mutation_p.R447Q|ACSL6_ENST00000357096.1_Missense_Mutation_p.R372Q|ACSL6_ENST00000379249.3_Missense_Mutation_p.R447Q|ACSL6_ENST00000431707.1_Missense_Mutation_p.R427Q			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	447					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TAGAGCTGCCCGGAGAAATCC	0.532																																																	0								ENSG00000164398						49.0	43.0	45.0					5																	131307262		2203	4300	6503	ACSL6	SO:0001583	missense	0			-	HGNC	AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"""Acyl-CoA synthetase family"""	16496	protein-coding gene	gene with protein product		604443	"""fatty-acid-Coenzyme A ligase, long-chain 6"""	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.1340G>A	5.37:g.131307262C>T	ENSP00000368542:p.Arg447Gln	Somatic	0	38	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	16	36.00	J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_AMP-dep_Synth/Lig	p.R472Q	ENST00000379240.1	37	c.1415		5	.	.	.	.	.	.	.	.	.	.	C	37	6.177548	0.97352	.	.	ENSG00000164398	ENST00000379249;ENST00000379264;ENST00000379272;ENST00000357096;ENST00000379255;ENST00000296869;ENST00000379246;ENST00000379244;ENST00000544770;ENST00000379240;ENST00000431707;ENST00000543479	T;T;T;T;T;T;T;T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88;0.88	5.94	5.94	0.96194	AMP-dependent synthetase/ligase (1);	0.047916	0.85682	N	0.000000	T	0.61540	0.2355	M	0.72118	2.19	0.80722	D	1	P;D;D;P;D;D;D	0.61697	0.749;0.987;0.99;0.905;0.968;0.987;0.987	P;P;P;P;P;P;P	0.56088	0.469;0.791;0.723;0.604;0.556;0.791;0.697	T	0.63102	-0.6712	10	0.87932	D	0	.	20.4237	0.99064	0.0:1.0:0.0:0.0	.	447;462;437;447;372;472;472	Q9UKU0-3;Q9UKU0-6;B4DFW3;Q9UKU0;Q9UKU0-7;Q9UKU0-1;Q9UKU0-8	.;.;.;ACSL6_HUMAN;.;.;.	Q	447;472;462;372;372;472;458;447;356;447;427;447	ENSP00000368551:R447Q;ENSP00000368566:R472Q;ENSP00000368574:R462Q;ENSP00000349608:R372Q;ENSP00000368557:R372Q;ENSP00000296869:R472Q;ENSP00000368548:R458Q;ENSP00000368546:R447Q;ENSP00000445154:R356Q;ENSP00000368542:R447Q;ENSP00000413329:R427Q;ENSP00000442124:R447Q	ENSP00000296869:R472Q	R	-	2	0	ACSL6	131335161	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.750000	0.85110	2.834000	0.97654	0.650000	0.86243	CGG	-	pfam_AMP-dep_Synth/Lig		0.532	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	ACSL6	protein_coding	OTTHUMT00000132622.1	C	NM_015256	-		131307262	-1	no_errors	ENST00000296869	ensembl	human	known	74_37	missense	SNP	1.000	T
MIR146A	406938	genome.wustl.edu	37	5	159912453	159912453	+	lincRNA	SNP	A	A	C			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr5:159912453A>C	ENST00000385201.1	+	0	95					NR_029701.1				microRNA 146a																		TATCTCTGTCATCGTGGGCTT	0.478																																																	0								ENSG00000253522						50.0	46.0	47.0					5																	159912453		1568	3582	5150	MIR146A			0			-	HGNC			5q34	2011-09-12	2005-06-30	2008-12-18	ENSG00000207936			"""ncRNAs / Micro RNAs"""	31533	non-coding RNA	RNA, micro		610566	"""microRNA 146"""	MIRN146, MIRN146A			Standard	NR_029701		Approved	hsa-mir-146, hsa-mir-146a					5.37:g.159912453A>C		Somatic	0	50	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	20	37.50		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000385201.1	37	NULL		5																																																																																			-	-		0.478	MIR146A-201	KNOWN	basic	miRNA	MIR146A	lincRNA		A	NR_029701	-		159912453	+1	no_errors	ENST00000385201	ensembl	human	known	74_37	rna	SNP	0.000	C
NEURL1	9148	genome.wustl.edu	37	10	105349291	105349291	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr10:105349291C>T	ENST00000369780.4	+	5	1769	c.1360C>T	c.(1360-1362)Cgg>Tgg	p.R454W	NEURL_ENST00000369777.2_Missense_Mutation_p.R437W|SH3PXD2A_ENST00000427662.2_Intron	NM_004210.4	NP_004201.3	O76050	NEUL1_HUMAN		454					brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|lactation (GO:0007595)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Notch signaling pathway (GO:0045746)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse maturation (GO:0090129)|protein monoubiquitination (GO:0006513)|skeletal muscle tissue development (GO:0007519)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|translation factor activity, non-nucleic acid binding (GO:0045183)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CCTGGCCGAGCGGGGTATCCC	0.652																																																	0								ENSG00000107954						51.0	53.0	53.0					10																	105349291		2203	4300	6503	NEURL	SO:0001583	missense	0			-	HGNC																												ENST00000369780.4:c.1360C>T	10.37:g.105349291C>T	ENSP00000358795:p.Arg454Trp	Somatic	0	74	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	70	23.66	Q5TDR2|Q5TDR3|Q8TAN0|Q9H463	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Neu_Z,smart_Neu_Z,pfscan_Neu_Z,pfscan_Znf_RING	p.R454W	ENST00000369780.4	37	c.1360	CCDS7551.1	10	.	.	.	.	.	.	.	.	.	.	C	17.87	3.494298	0.64186	.	.	ENSG00000107954	ENST00000369780;ENST00000369777	.	.	.	4.94	4.04	0.47022	.	0.432209	0.25416	N	0.030840	T	0.47710	0.1460	L	0.50333	1.59	0.80722	D	1	D	0.69078	0.997	B	0.43575	0.424	T	0.45687	-0.9244	9	0.38643	T	0.18	-17.9193	12.6368	0.56687	0.3011:0.6989:0.0:0.0	.	454	O76050	NEU1A_HUMAN	W	454;437	.	ENSP00000358792:R437W	R	+	1	2	NEURL	105339281	1.000000	0.71417	1.000000	0.80357	0.673000	0.39480	1.945000	0.40273	1.093000	0.41377	-0.226000	0.12346	CGG	-	NULL		0.652	NEURL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEURL	protein_coding	OTTHUMT00000050170.1	C		-		105349291	+1	no_errors	ENST00000369780	ensembl	human	known	74_37	missense	SNP	1.000	T
POTEH	23784	genome.wustl.edu	37	22	16277955	16277955	+	Intron	SNP	A	A	G	rs4819442		TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr22:16277955A>G	ENST00000343518.6	-	5	1080				POTEH-AS1_ENST00000422014.1_RNA|RNU6-816P_ENST00000390914.1_RNA	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H											NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTACCAATTTAACATCTTGCC	0.338																																																	0								ENSG00000236666																																			POTEH-AS1	SO:0001627	intron_variant	0			-	HGNC	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.1029-70T>C	22.37:g.16277955A>G		Somatic	0	39	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	25	10.71	A2CEK4|A6NCI1|A9Z1W0	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000343518.6	37	NULL	CCDS46658.1	22																																																																																			-	-		0.338	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	POTEH-AS1	protein_coding	OTTHUMT00000276918.4	A	NM_001136213	-		16277955	+1	no_errors	ENST00000422014	ensembl	human	known	74_37	rna	SNP	0.004	G
ABI3	51225	genome.wustl.edu	37	17	47295202	47295202	+	Silent	SNP	C	C	T			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr17:47295202C>T	ENST00000225941.1	+	3	885	c.387C>T	c.(385-387)aaC>aaT	p.N129N	ABI3_ENST00000419580.2_Silent_p.N123N	NM_001135186.1|NM_016428.2	NP_001128658.1|NP_057512	Q9P2A4	ABI3_HUMAN	ABI family, member 3	129					cellular component movement (GO:0006928)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|membrane (GO:0016020)				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			CCCCAGAGAACCTACCCCCTC	0.612										HNSCC(55;0.14)																																							0								ENSG00000108798						135.0	131.0	132.0					17																	47295202		2203	4300	6503	ABI3	SO:0001819	synonymous_variant	0			-	HGNC	AB037886	CCDS11546.1, CCDS45725.1	17q21.3	2011-03-04	2008-09-12		ENSG00000108798	ENSG00000108798			29859	protein-coding gene	gene with protein product		606363				10978530, 11956071	Standard	NM_001135186		Approved	NESH, SSH3BP3	uc002iop.1	Q9P2A4	OTTHUMG00000161306	ENST00000225941.1:c.387C>T	17.37:g.47295202C>T		Somatic	0	41	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	19	36.67	C9IZN8|Q9H0P6	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Abl-interactor_HHR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain	p.N129	ENST00000225941.1	37	c.387	CCDS11546.1	17																																																																																			-	pfam_Abl-interactor_HHR_dom		0.612	ABI3-001	KNOWN	basic|CCDS	protein_coding	ABI3	protein_coding	OTTHUMT00000364475.1	C	NM_016428	-		47295202	+1	no_errors	ENST00000225941	ensembl	human	known	74_37	silent	SNP	1.000	T
CNPPD1	27013	genome.wustl.edu	37	2	220041005	220041005	+	Missense_Mutation	SNP	A	A	C			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr2:220041005A>C	ENST00000409789.1	-	3	545	c.118T>G	c.(118-120)Tac>Gac	p.Y40D	CNPPD1_ENST00000360507.5_Missense_Mutation_p.Y40D|FAM134A_ENST00000430297.2_5'Flank			Q9BV87	CNPD1_HUMAN	cyclin Pas1/PHO80 domain containing 1	40					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)	integral component of membrane (GO:0016021)				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						CAGCCATAGTAGAGCCTCCTT	0.597																																																	0								ENSG00000115649						54.0	55.0	55.0					2																	220041005		2203	4300	6503	CNPPD1	SO:0001583	missense	0			-	HGNC	AF070638	CCDS2433.1	2q36	2011-03-23	2011-03-23	2011-03-23	ENSG00000115649	ENSG00000115649			25220	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 24"""	C2orf24		8619474, 9110174	Standard	NM_015680		Approved	CGI-57	uc002vju.4	Q9BV87	OTTHUMG00000133132	ENST00000409789.1:c.118T>G	2.37:g.220041005A>C	ENSP00000386277:p.Tyr40Asp	Somatic	0	46	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	32	21.95	B2RC77|O75548|Q9H4N0|Q9UQN0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Cyclin_PHO80-like,superfamily_Cyclin-like	p.Y40D	ENST00000409789.1	37	c.118	CCDS2433.1	2	.	.	.	.	.	.	.	.	.	.	A	27.0	4.792514	0.90453	.	.	ENSG00000115649	ENST00000360507;ENST00000409789;ENST00000453038;ENST00000451647	T;T;T	0.47177	1.74;1.74;0.85	4.54	4.54	0.55810	.	0.061550	0.64402	D	0.000002	T	0.57695	0.2071	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.62053	-0.6935	10	0.72032	D	0.01	-15.589	14.3173	0.66460	1.0:0.0:0.0:0.0	.	40	Q9BV87	CNPD1_HUMAN	D	40	ENSP00000353698:Y40D;ENSP00000386277:Y40D;ENSP00000410109:Y40D	ENSP00000353698:Y40D	Y	-	1	0	CNPPD1	219749249	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	7.812000	0.86109	2.018000	0.59344	0.533000	0.62120	TAC	-	NULL		0.597	CNPPD1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CNPPD1	protein_coding	OTTHUMT00000336220.1	A	NM_015680	-		220041005	-1	no_errors	ENST00000360507	ensembl	human	known	74_37	missense	SNP	1.000	C
IFT46	56912	genome.wustl.edu	37	11	118427683	118427685	+	In_Frame_Del	DEL	ATC	ATC	-			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	ATC	ATC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr11:118427683_118427685delATC	ENST00000264021.3	-	4	539_541	c.121_123delGAT	c.(121-123)gatdel	p.D41del	IFT46_ENST00000530872.1_In_Frame_Del_p.D92del|IFT46_ENST00000264020.2_In_Frame_Del_p.D92del	NM_001168618.1	NP_001162089.1	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46	41	Asp/Glu-rich (highly acidic).				cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)|protein stabilization (GO:0050821)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)	protein C-terminus binding (GO:0008022)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						TTTCAGATGAatcatcatcatca	0.478																																																	0								ENSG00000118096																																			IFT46	SO:0001651	inframe_deletion	0				HGNC	AL136934	CCDS8399.1, CCDS53718.1	11q23.3	2014-07-18	2014-07-03	2010-04-22	ENSG00000118096	ENSG00000118096		"""Intraflagellar transport homologs"""	26146	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 32"""		"""chromosome 11 open reading frame 60"", ""intraflagellar transport 46 homolog (Chlamydomonas)"""	C11orf60		10873569, 19253336	Standard	NM_020153		Approved	C11orf2, FLJ21827, CFAP32	uc001pto.2	Q9NQC8	OTTHUMG00000166408	ENST00000264021.3:c.121_123delGAT	11.37:g.118427692_118427694delATC	ENSP00000264021:p.Asp41del	Somatic	0	47	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	30	9.09	A8K0F6|Q9H6V5	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Intraflagellar_transp_cmplxB	p.D92in_frame_del	ENST00000264021.3	37	c.276_274	CCDS53718.1	11																																																																																			-	NULL		0.478	IFT46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT46	protein_coding	OTTHUMT00000389627.1	ATC	NM_020153			118427685	-1	no_errors	ENST00000264020	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:0.999	-
AIM1	202	genome.wustl.edu	37	6	106967377	106967377	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr6:106967377G>C	ENST00000369066.3	+	2	1557	c.1070G>C	c.(1069-1071)aGa>aCa	p.R357T		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CCAGCAACCAGAGGAATGAAT	0.448																																																	0								ENSG00000112297						85.0	96.0	92.0					6																	106967377		2203	4300	6503	AIM1	SO:0001583	missense	0			-	HGNC	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.1070G>C	6.37:g.106967377G>C	ENSP00000358062:p.Arg357Thr	Somatic	0	16	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	8	38.46	Q6P2P0|Q9BTM3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.R357T	ENST00000369066.3	37	c.1070	CCDS34506.1	6	.	.	.	.	.	.	.	.	.	.	G	10.09	1.254913	0.22965	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	T	0.71341	-0.56	3.21	2.33	0.28932	.	1.915270	0.02875	N	0.132160	T	0.34454	0.0898	L	0.29908	0.895	0.25480	N	0.987746	P	0.37466	0.596	B	0.31869	0.137	T	0.20009	-1.0288	10	0.14252	T	0.57	.	9.1448	0.36925	0.1068:0.0:0.8932:0.0	.	357	Q9Y4K1	AIM1_HUMAN	T	765;357	ENSP00000358062:R357T	ENSP00000285105:R765T	R	+	2	0	AIM1	107074070	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.070000	0.11523	0.920000	0.36970	0.655000	0.94253	AGA	-	NULL		0.448	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIM1	protein_coding	OTTHUMT00000041669.1	G		-		106967377	+1	no_errors	ENST00000369066	ensembl	human	known	74_37	missense	SNP	0.003	C
LAMA2	3908	genome.wustl.edu	37	6	129833555	129833555	+	Missense_Mutation	SNP	C	C	T	rs374888837		TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr6:129833555C>T	ENST00000421865.2	+	63	8954	c.8905C>T	c.(8905-8907)Cgc>Tgc	p.R2969C		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2969	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.			R -> A (in Ref. 1; CAA81394 and 2; AAB18388). {ECO:0000305}.	axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATTTGAATTCCGCACAACTAC	0.373													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18846	0.0		0.0	False		,,,				2504	0.0																0								ENSG00000196569	C	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	142.0	139.0	140.0		8905,8893	4.9	1.0	6		140	0,8600		0,0,4300	no	missense,missense	LAMA2	NM_000426.3,NM_001079823.1	180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	2969/3123,2965/3119	129833555	1,13005	2203	4300	6503	LAMA2	SO:0001583	missense	0			-	HGNC	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.8905C>T	6.37:g.129833555C>T	ENSP00000400365:p.Arg2969Cys	Somatic	0	114	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	59	39.18	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.R2969C	ENST00000421865.2	37	c.8905	CCDS5138.1	6	.	.	.	.	.	.	.	.	.	.	C	20.1	3.938126	0.73557	2.27E-4	0.0	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.55930	0.49	5.73	4.87	0.63330	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.85682	D	0.000000	T	0.75339	0.3836	H	0.94503	3.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.83883	0.0280	9	.	.	.	.	14.7432	0.69472	0.0:0.9308:0.0:0.0692	.	2970;2969	A6NF00;P24043	.;LAMA2_HUMAN	C	2969;2968;2969;987	ENSP00000400365:R2969C	.	R	+	1	0	LAMA2	129875248	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	6.811000	0.75221	1.439000	0.47511	0.655000	0.94253	CGC	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.373	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	protein_coding	OTTHUMT00000042180.1	C		-		129833555	+1	no_errors	ENST00000421865	ensembl	human	known	74_37	missense	SNP	1.000	T
RP11-469N6.1	0	genome.wustl.edu	37	11	134605777	134605777	+	lincRNA	SNP	C	C	G	rs7104522	byFrequency	TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr11:134605777C>G	ENST00000513405.1	+	0	288																											GTGAGCGACGCAGAGCTGGGG	0.642													G|||	254	0.0507188	0.0219	0.0735	5008	,	,		13175	0.0308		0.0885	False		,,,				2504	0.0552																0								ENSG00000251226																																			RP11-469N6.1			0			-	Clone_based_vega_gene																													11.37:g.134605777C>G		Somatic	0	13	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	9	55.00		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000513405.1	37	NULL		11																																																																																			-	-		0.642	RP11-469N6.1-001	KNOWN	basic|exp_conf	lincRNA	ENSG00000251226	lincRNA	OTTHUMT00000382010.2	C		rs7104522		134605777	+1	no_errors	ENST00000513405	ensembl	human	known	74_37	rna	SNP	0.003	G
DNAH5	1767	genome.wustl.edu	37	5	13793644	13793644	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr5:13793644G>A	ENST00000265104.4	-	49	8308	c.8204C>T	c.(8203-8205)gCt>gTt	p.A2735V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2735	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTCCACAGAAGCTTCAGAGGG	0.468									Kartagener syndrome																																								0								ENSG00000039139						121.0	125.0	124.0					5																	13793644		2203	4300	6503	DNAH5	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	-	HGNC	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.8204C>T	5.37:g.13793644G>A	ENSP00000265104:p.Ala2735Val	Somatic	0	62	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	18	37.93	Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.A2735V	ENST00000265104.4	37	c.8204	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	G	17.22	3.333297	0.60853	.	.	ENSG00000039139	ENST00000265104	T	0.42131	0.98	5.88	5.88	0.94601	ATPase, AAA+ type, core (1);	0.106406	0.64402	D	0.000005	T	0.41719	0.1171	L	0.43923	1.385	0.80722	D	1	B	0.24576	0.106	B	0.27715	0.082	T	0.12192	-1.0557	10	0.33141	T	0.24	.	20.2366	0.98359	0.0:0.0:1.0:0.0	.	2735	Q8TE73	DYH5_HUMAN	V	2735	ENSP00000265104:A2735V	ENSP00000265104:A2735V	A	-	2	0	DNAH5	13846644	1.000000	0.71417	0.921000	0.36526	0.435000	0.31806	7.857000	0.86963	2.792000	0.96026	0.557000	0.71058	GCT	-	superfamily_P-loop_NTPase,smart_AAA+_ATPase		0.468	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	protein_coding	OTTHUMT00000207057.2	G	NM_001369	-		13793644	-1	no_errors	ENST00000265104	ensembl	human	known	74_37	missense	SNP	1.000	A
SMDT1	91689	genome.wustl.edu	37	22	42478046	42478048	+	In_Frame_Del	DEL	GAT	GAT	-	rs141840500		TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	GAT	GAT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr22:42478046_42478048delGAT	ENST00000331479.3	+	2	378_380	c.304_306delGAT	c.(304-306)gatdel	p.D107del		NM_033318.4	NP_201575.3	Q9H4I9	EMRE_HUMAN	single-pass membrane protein with aspartate-rich tail 1	107	Asp/Glu-rich.				calcium ion transmembrane import into mitochondrion (GO:0036444)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)	integral component of mitochondrial inner membrane (GO:0031305)|uniplex complex (GO:1990246)											TGTTCCAGAGGATGATGATGATG	0.478																																																	0								ENSG00000183172			0,4264		0,0,2132						3.7	1.0			147	3,8251		0,3,4124	no	coding	C22orf32	NM_033318.4		0,3,6256	A1A1,A1R,RR		0.0363,0.0,0.024				3,12515				SMDT1	SO:0001651	inframe_deletion	0				HGNC	BC024237	CCDS14031.1	22q13.2	2013-03-08	2013-03-08	2013-03-08	ENSG00000183172	ENSG00000183172			25055	protein-coding gene	gene with protein product		615588	"""chromosome 22 open reading frame 32"""	C22orf32		12477932	Standard	NM_033318		Approved	dJ186O1.1, DDDD	uc003bca.3	Q9H4I9	OTTHUMG00000151286	ENST00000331479.3:c.304_306delGAT	22.37:g.42478055_42478057delGAT	ENSP00000327467:p.Asp107del	Somatic	0	42	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	22	12.00	B2R5D1|Q8TAB9	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_UPF0466	p.D105in_frame_del	ENST00000331479.3	37	c.304_306	CCDS14031.1	22																																																																																			-	pfam_UPF0466		0.478	SMDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMDT1	protein_coding	OTTHUMT00000322086.1	GAT	NM_033318			42478048	+1	no_errors	ENST00000331479	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:0.998	-
FBXL6	26233	genome.wustl.edu	37	8	145581100	145581100	+	Splice_Site	DEL	T	T	-			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr8:145581100delT	ENST00000331890.5	-	3	702	c.638delA	c.(637-639)aag>ag	p.K213fs	TMEM249_ENST00000398633.3_5'Flank|SLC52A2_ENST00000402965.1_5'Flank|FBXL6_ENST00000526524.1_5'Flank|SLC52A2_ENST00000329994.2_5'Flank|SLC52A2_ENST00000532887.1_5'Flank|SLC52A2_ENST00000526752.1_5'Flank|SLC52A2_ENST00000540505.1_5'Flank|TMEM249_ENST00000531225.1_5'Flank|SLC52A2_ENST00000527078.1_5'Flank|FBXL6_ENST00000455319.2_Intron|SLC52A2_ENST00000530047.1_5'Flank	NM_012162.2	NP_036294.2	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6	213					protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)		ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			AGCTCTCACCTTCAACACGGG	0.587																																																	0								ENSG00000182325						96.0	79.0	85.0					8																	145581100		2200	4298	6498	FBXL6	SO:0001630	splice_region_variant	0				HGNC	AF174592	CCDS6422.1, CCDS47942.1	8q24.3	2011-06-09			ENSG00000182325	ENSG00000182325		"""F-boxes / Leucine-rich repeats"""	13603	protein-coding gene	gene with protein product		609076				10531035, 10531037	Standard	NM_012162		Approved	FBL6	uc003zcb.3	Q8N531	OTTHUMG00000165169	ENST00000331890.5:c.639+1A>-	8.37:g.145581100delT		Somatic	0	17	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	16	11.11	Q53G43|Q9H5W9|Q9UKC7	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	superfamily_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp	p.K213fs	ENST00000331890.5	37	c.638	CCDS6422.1	8																																																																																			-	NULL		0.587	FBXL6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FBXL6	protein_coding	OTTHUMT00000382413.1	T	NM_024555		Frame_Shift_Del	145581100	-1	no_errors	ENST00000331890	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-
ULK1	8408	genome.wustl.edu	37	12	132405899	132405899	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr12:132405899G>T	ENST00000321867.4	+	28	3497	c.3146G>T	c.(3145-3147)tGt>tTt	p.C1049F	ULK1_ENST00000540647.1_Missense_Mutation_p.C294F	NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	1049					autophagic vacuole assembly (GO:0000045)|axon extension (GO:0048675)|cellular response to nutrient levels (GO:0031669)|cerebellar granule cell differentiation (GO:0021707)|negative regulation of collateral sprouting (GO:0048671)|neuron projection development (GO:0031175)|neuron projection regeneration (GO:0031102)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|protein autophosphorylation (GO:0046777)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|radial glia guided migration of cerebellar granule cell (GO:0021933)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of autophagy (GO:0010506)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|response to starvation (GO:0042594)	ATG1/UKL1 signaling complex (GO:0034273)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extrinsic component of autophagic vacuole membrane (GO:0097635)|extrinsic component of omegasome membrane (GO:0097629)|extrinsic component of pre-autophagosomal structure membrane (GO:0097632)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|pre-autophagosomal structure membrane (GO:0034045)|ULK1-ATG13-FIP200 complex (GO:0070969)	ATP binding (GO:0005524)|protein complex binding (GO:0032403)|protein serine/threonine kinase activity (GO:0004674)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		ACTGGCATCTGTGCCTGACCT	0.672																																																	0								ENSG00000177169						117.0	114.0	115.0					12																	132405899		2203	4300	6503	ULK1	SO:0001583	missense	0			-	HGNC	AF045458	CCDS9274.1	12q24.3	2014-02-12	2013-07-02		ENSG00000177169	ENSG00000177169			12558	protein-coding gene	gene with protein product	"""ATG1 autophagy related 1 homolog (S. cerevisiae)"""	603168	"""unc-51 (C. elegans)-like kinase 1"", ""unc-51-like kinase 1 (C. elegans)"""			9693035	Standard	NM_003565		Approved	ATG1, ATG1A	uc001uje.3	O75385	OTTHUMG00000168052	ENST00000321867.4:c.3146G>T	12.37:g.132405899G>T	ENSP00000324560:p.Cys1049Phe	Somatic	0	20	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	21	16.00	Q9UQ28	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.C1049F	ENST00000321867.4	37	c.3146	CCDS9274.1	12	.	.	.	.	.	.	.	.	.	.	G	12.65	2.000191	0.35320	.	.	ENSG00000177169	ENST00000321867;ENST00000540647	T;T	0.70631	-0.5;1.29	4.56	1.54	0.23209	.	0.250244	0.40469	N	0.001090	T	0.64438	0.2598	M	0.72479	2.2	0.24031	N	0.996119	P	0.35714	0.517	B	0.36244	0.22	T	0.58912	-0.7552	10	0.66056	D	0.02	-1.2562	5.5445	0.17055	0.0795:0.1407:0.6341:0.1457	.	1049	O75385	ULK1_HUMAN	F	1049;294	ENSP00000324560:C1049F;ENSP00000441794:C294F	ENSP00000324560:C1049F	C	+	2	0	ULK1	130971852	1.000000	0.71417	0.112000	0.21494	0.893000	0.52053	4.589000	0.61006	0.079000	0.16929	0.561000	0.74099	TGT	-	pirsf_Ser/Thr_kin_STPK_Ulk-1/2		0.672	ULK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ULK1	protein_coding	OTTHUMT00000397769.3	G		-		132405899	+1	no_errors	ENST00000321867	ensembl	human	known	74_37	missense	SNP	0.395	T
LAIR1	3903	genome.wustl.edu	37	19	54866934	54866934	+	Silent	SNP	T	T	C			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr19:54866934T>C	ENST00000391742.2	-	10	959	c.807A>G	c.(805-807)ccA>ccG	p.P269P	LAIR1_ENST00000348231.4_Silent_p.P252P|CTD-2587H19.1_ENST00000596234.1_lincRNA|LAIR1_ENST00000434277.2_Silent_p.P268P|LAIR1_ENST00000313038.6_Silent_p.P262P|LAIR1_ENST00000391743.3_Silent_p.P251P|LAIR1_ENST00000474878.1_Silent_p.P251P|LAIR1_ENST00000463489.1_5'Flank			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	269					immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		TTGTGGACTGTGGGGACACAG	0.622																																																	0								ENSG00000167613						116.0	107.0	110.0					19																	54866934		2203	4300	6503	LAIR1	SO:0001819	synonymous_variant	0			-	HGNC	AF013249	CCDS12891.1, CCDS12892.1, CCDS74448.1, CCDS74449.1, CCDS74450.1	19q13.4	2013-01-29	2006-03-23		ENSG00000167613	ENSG00000167613		"""Leukocyte-associated Ig like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6477	protein-coding gene	gene with protein product		602992	"""leukocyte-associated Ig-like receptor 1"""			9285412	Standard	XM_005258924		Approved	CD305	uc002qfk.1	Q6GTX8	OTTHUMG00000065545	ENST00000391742.2:c.807A>G	19.37:g.54866934T>C		Somatic	0	18	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	15	40.00		Silent	SNP	NA	NA	NA	NA	NA	NA	smart_Ig_sub	p.P269	ENST00000391742.2	37	c.807	CCDS12891.1	19																																																																																			-	NULL		0.622	LAIR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAIR1	protein_coding	OTTHUMT00000140506.1	T		-		54866934	-1	no_errors	ENST00000391742	ensembl	human	known	74_37	silent	SNP	0.000	C
CMIP	80790	genome.wustl.edu	37	16	81697934	81697934	+	Silent	SNP	C	C	A			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr16:81697934C>A	ENST00000537098.3	+	7	877	c.805C>A	c.(805-807)Cga>Aga	p.R269R	CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000539778.2_Silent_p.R175R|CMIP_ENST00000398040.4_Silent_p.R116R	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	269						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(5)|kidney(1)|lung(7)	13						cgtggtgcagcgaatcctcaa	0.632																																																	0								ENSG00000153815						52.0	57.0	56.0					16																	81697934		2051	4189	6240	CMIP	SO:0001819	synonymous_variant	0			-	HGNC	AB051481	CCDS54044.1, CCDS54045.1	16q23	2011-08-04			ENSG00000153815	ENSG00000153815			24319	protein-coding gene	gene with protein product		610112				11214970, 12939343	Standard	NM_030629		Approved		uc002fgp.3	Q8IY22		ENST00000537098.3:c.805C>A	16.37:g.81697934C>A		Somatic	0	39	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	17	19.05	Q9C0G9	Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.R269	ENST00000537098.3	37	c.805	CCDS54044.1	16																																																																																			-	NULL		0.632	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMIP	protein_coding	OTTHUMT00000432399.2	C	NM_030629	-		81697934	+1	no_errors	ENST00000537098	ensembl	human	known	74_37	silent	SNP	1.000	A
SENP3	26168	genome.wustl.edu	37	17	7475163	7475198	+	3'UTR	DEL	ATATATATATATATATATATATATATATATATATAT	ATATATATATATATATATATATATATATATATATAT	-	rs56327661|rs12941164		TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	ATATATATATATATATATATATATATATATATATAT	ATATATATATATATATATATATATATATATATATAT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr17:7475163_7475198delATATATATATATATATATATATATATATATATATAT	ENST00000429205.2	+	0	2136_2161				EIF4A1_ENST00000577269.1_5'Flank|EIF4A1_ENST00000582746.1_5'Flank|SENP3_ENST00000578868.1_3'UTR|EIF4A1_ENST00000380512.5_5'Flank|SENP3_ENST00000321337.7_3'UTR|SNORA48_ENST00000386847.1_RNA|EIF4A1_ENST00000293831.8_5'Flank|SENP3-EIF4A1_ENST00000579777.1_RNA			Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 3							cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)	cysteine-type peptidase activity (GO:0008234)			central_nervous_system(1)|ovary(1)	2		Prostate(122;0.157)				TTTtatatatatatatatatatatatatatatatatatatatatatatatatatat	0.347																																																	0								ENSG00000161956																																			SENP3	SO:0001624	3_prime_UTR_variant	0				HGNC	AK000923	CCDS73958.1	17p13	2012-05-02	2005-08-17			ENSG00000161956			17862	protein-coding gene	gene with protein product		612844	"""SUMO1/sentrin/SMT3 specific protease 3"""			10806345, 11230166	Standard	NM_015670		Approved	DKFZP586K0919, SSP3, DKFZp762A152, SMT3IP1, Ulp1	uc002ghm.3	Q9H4L4		ENST00000429205.2:c.*387ATATATATATATATATATATATATATATATATATAT>-	17.37:g.7475163_7475198delATATATATATATATATATATATATATATATATATAT		Somatic	NA	NA	NA		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	Q66K15|Q86VS7|Q96PS4|Q9Y3W9	Splice_Site	DEL	NA	NA	NA	NA	NA	NA	-	e12-1	ENST00000429205.2	37	c.1725+27_62		17																																																																																			-	-		0.347	SENP3-202	KNOWN	basic|appris_candidate_longest	protein_coding	SENP3	protein_coding		ATATATATATATATATATATATATATATATATATAT	NM_015670			7475198	+1	no_errors	ENST00000429205	ensembl	human	known	74_37	splice_site_del	DEL	1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.995:0.988:0.984:0.978:0.977:0.973:0.975:0.974:0.977:0.977:0.976:0.974:0.976:0.976:0.974:0.970:0.972:0.972:0.969:0.964:0.963:0.960:0.953:0.941:0.939	-
SLC4A3	6508	genome.wustl.edu	37	2	220498114	220498114	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr2:220498114C>T	ENST00000358055.3	+	10	1908	c.1396C>T	c.(1396-1398)Cct>Tct	p.P466S	SLC4A3_ENST00000373760.2_Missense_Mutation_p.P466S|SLC4A3_ENST00000373762.3_Missense_Mutation_p.P493S|SLC4A3_ENST00000317151.3_Missense_Mutation_p.P466S|SLC4A3_ENST00000273063.6_Missense_Mutation_p.P493S			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	466				P -> S (in Ref. 2; AAB05850). {ECO:0000305}.	bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGGGCGGTGCCTACCATGGC	0.622																																																	0								ENSG00000114923						66.0	60.0	62.0					2																	220498114		2203	4300	6503	SLC4A3	SO:0001583	missense	0			-	HGNC		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.1396C>T	2.37:g.220498114C>T	ENSP00000350756:p.Pro466Ser	Somatic	0	34	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk	p.P493S	ENST00000358055.3	37	c.1477	CCDS2445.1	2	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839709	0.71488	.	.	ENSG00000114923	ENST00000358055;ENST00000373760;ENST00000273063;ENST00000373762;ENST00000317151	T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12	4.75	4.75	0.60458	Bicarbonate transporter, cytoplasmic (2);Phosphotransferase/anion transporter (1);	0.380715	0.25674	N	0.029051	T	0.75606	0.3872	M	0.64080	1.96	0.58432	D	0.99999	P;D	0.76494	0.949;0.999	P;D	0.69824	0.877;0.966	T	0.75557	-0.3276	10	0.44086	T	0.13	.	16.121	0.81357	0.0:1.0:0.0:0.0	.	466;493	P48751;P48751-3	B3A3_HUMAN;.	S	466;466;493;493;466	ENSP00000350756:P466S;ENSP00000362865:P466S;ENSP00000273063:P493S;ENSP00000362867:P493S;ENSP00000314006:P466S	ENSP00000273063:P493S	P	+	1	0	SLC4A3	220206358	0.998000	0.40836	0.723000	0.30687	0.793000	0.44817	4.993000	0.63895	2.469000	0.83416	0.549000	0.68633	CCT	-	pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_Anion_exchange_3,tigrfam_HCO3_transpt_euk		0.622	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SLC4A3	protein_coding	OTTHUMT00000316472.1	C	NM_005070	-		220498114	+1	no_errors	ENST00000273063	ensembl	human	known	74_37	missense	SNP	0.996	T
RUVBL2	10856	genome.wustl.edu	37	19	49514351	49514351	+	Splice_Site	SNP	G	G	T			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr19:49514351G>T	ENST00000595090.1	+	10	1346		c.e10+1		RUVBL2_ENST00000413176.2_Splice_Site|RUVBL2_ENST00000601968.1_Splice_Site	NM_006666.1	NP_006657.1	Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2						ATP catabolic process (GO:0006200)|cellular response to estradiol stimulus (GO:0071392)|cellular response to UV (GO:0034644)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|establishment of protein localization to chromatin (GO:0071169)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of estrogen receptor binding (GO:0071899)|positive regulation of histone acetylation (GO:0035066)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein folding (GO:0006457)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)|transcriptional activation by promoter-enhancer looping (GO:0071733)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Ino80 complex (GO:0031011)|intracellular (GO:0005622)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent DNA helicase activity (GO:0004003)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|unfolded protein binding (GO:0051082)			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		CATCCCTGGAGTGAGGACCCA	0.637																																																	0								ENSG00000183207						36.0	41.0	39.0					19																	49514351		2054	4189	6243	RUVBL2	SO:0001630	splice_region_variant	0			-	HGNC	AF155138	CCDS42588.1	19q13.3	2013-09-12	2013-09-12					"""INO80 complex subunits"", ""ATPases / AAA-type"""	10475	protein-coding gene	gene with protein product	"""reptin"", ""INO80 complex subunit J"""	604788	"""RuvB (E coli homolog)-like 2"", ""RuvB-like 2 (E. coli)"""			10428817, 10998447	Standard	XM_005258426		Approved	RVB2, TIP48, TIP49b, Reptin52, ECP51, TIH2, INO80J, Rvb2	uc002plr.1	Q9Y230		ENST00000595090.1:c.882+1G>T	19.37:g.49514351G>T		Somatic	0	41	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	36	26.53	B3KQ59|E7ETE5|Q6FIB9|Q6PK27|Q9Y361	Splice_Site	SNP	NA	NA	NA	NA	NA	NA	-	e10+1	ENST00000595090.1	37	c.882+1	CCDS42588.1	19	.	.	.	.	.	.	.	.	.	.	G	20.8	4.050147	0.75846	.	.	ENSG00000183207	ENST00000221413;ENST00000413176	.	.	.	4.47	4.47	0.54385	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0153	0.71578	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RUVBL2	54206163	1.000000	0.71417	0.999000	0.59377	0.845000	0.48019	8.679000	0.91220	2.483000	0.83821	0.561000	0.74099	.	-	-		0.637	RUVBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RUVBL2	protein_coding	OTTHUMT00000466235.1	G		-	Intron	49514351	+1	no_errors	ENST00000595090	ensembl	human	known	74_37	splice_site	SNP	1.000	T
ZC3H3	23144	genome.wustl.edu	37	8	144522387	144522389	+	In_Frame_Del	DEL	GAG	GAG	-	rs2272753|rs2272754	byFrequency	TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	GAG	GAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr8:144522387_144522389delGAG	ENST00000262577.5	-	11	2668_2670	c.2637_2639delCTC	c.(2635-2640)tcctca>tca	p.879_880SS>S		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	879	Poly-Ser.				mRNA polyadenylation (GO:0006378)|poly(A)+ mRNA export from nucleus (GO:0016973)|regulation of mRNA export from nucleus (GO:0010793)	nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			Gggaggggatgaggaggaggagg	0.655																																																	0								ENSG00000014164																																			ZC3H3	SO:0001651	inframe_deletion	0				HGNC	D63484	CCDS6402.1	8q24.3	2012-07-05	2005-06-02	2005-06-02	ENSG00000014164	ENSG00000014164		"""Zinc fingers, CCCH-type domain containing"""	28972	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 3"""	ZC3HDC3		8590280	Standard	NM_015117		Approved	KIAA0150	uc003yyd.2	Q8IXZ2	OTTHUMG00000165127	ENST00000262577.5:c.2637_2639delCTC	8.37:g.144522396_144522398delGAG	ENSP00000262577:p.Ser881del	Somatic	0	44	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	29	19.44	Q14163|Q8N4E2|Q9BUS4	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Znf_CCCH,smart_Znf_CCCH	p.S881in_frame_del	ENST00000262577.5	37	c.2639_2637	CCDS6402.1	8																																																																																			-	NULL		0.655	ZC3H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H3	protein_coding	OTTHUMT00000382011.2	GAG	NM_015117			144522389	-1	no_errors	ENST00000262577	ensembl	human	known	74_37	in_frame_del	DEL	0.000:0.000:0.001	-
EVC2	132884	genome.wustl.edu	37	4	5642395	5642395	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr4:5642395A>G	ENST00000344408.5	-	10	1369	c.1316T>C	c.(1315-1317)cTg>cCg	p.L439P	EVC2_ENST00000344938.1_Missense_Mutation_p.L439P|EVC2_ENST00000310917.2_Missense_Mutation_p.L359P	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	439					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TTCATTTTCCAGCAATAGAAA	0.433																																																	0								ENSG00000173040						227.0	215.0	219.0					4																	5642395		2203	4300	6503	EVC2	SO:0001583	missense	0			-	HGNC	AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.1316T>C	4.37:g.5642395A>G	ENSP00000342144:p.Leu439Pro	Somatic	0	47	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38	Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Limbin	p.L439P	ENST00000344408.5	37	c.1316	CCDS3382.2	4	.	.	.	.	.	.	.	.	.	.	A	14.17	2.454354	0.43634	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	D;D;D	0.83837	-1.77;-1.77;-1.77	4.25	3.01	0.34805	.	0.554792	0.18730	N	0.132758	D	0.88551	0.6467	M	0.65975	2.015	0.58432	D	0.999996	D	0.89917	1.0	D	0.79784	0.993	D	0.87120	0.2190	10	0.72032	D	0.01	-13.2252	10.1268	0.42654	0.8313:0.1687:0.0:0.0	.	439	Q86UK5	LBN_HUMAN	P	439;359;439	ENSP00000339954:L439P;ENSP00000311683:L359P;ENSP00000342144:L439P	ENSP00000311683:L359P	L	-	2	0	EVC2	5693296	0.996000	0.38824	0.979000	0.43373	0.516000	0.34256	3.935000	0.56560	0.569000	0.29329	0.482000	0.46254	CTG	-	pfam_Limbin		0.433	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EVC2	protein_coding	OTTHUMT00000289822.2	A	NM_147127	-		5642395	-1	no_errors	ENST00000344408	ensembl	human	known	74_37	missense	SNP	0.909	G
ZRANB2	9406	genome.wustl.edu	37	1	71535065	71535065	+	Intron	DEL	T	T	-			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr1:71535065delT	ENST00000370920.3	-	8	985				ZRANB2-AS1_ENST00000450461.1_RNA|ZRANB2-AS1_ENST00000426999.1_RNA|MIR186_ENST00000384988.1_RNA|ZRANB2_ENST00000477096.1_5'Flank|ZRANB2_ENST00000254821.6_Intron	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2						mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						CATGGAACGATTTTTTTTTTC	0.378																																																	0								ENSG00000132485						60.0	63.0	62.0					1																	71535065		2203	4300	6503	ZRANB2	SO:0001627	intron_variant	0				HGNC	AF065391	CCDS659.1, CCDS660.1	1p31	2008-02-05	2006-06-28	2006-06-28	ENSG00000132485	ENSG00000132485		"""Zinc fingers, RAN-binding domain containing"""	13058	protein-coding gene	gene with protein product		604347	"""zinc finger protein 265"""	ZNF265		9931435	Standard	NM_005455		Approved	ZIS, ZIS1, ZIS2	uc001dft.3	O95218	OTTHUMG00000009660	ENST00000370920.3:c.684-20A>-	1.37:g.71535065delT		Somatic	0	81	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	65	10.96	D3DQ75|Q53GS3|Q59F92|Q5VV33|Q5VV34|Q8IXN6|Q9UP63	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000370920.3	37	NULL	CCDS659.1	1																																																																																			-	-		0.378	ZRANB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZRANB2	protein_coding	OTTHUMT00000026636.1	T	NM_203350			71535065	-1	no_errors	ENST00000487510	ensembl	human	known	74_37	rna	DEL	1.000	-
OR1F1	4992	genome.wustl.edu	37	16	3254752	3254752	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr16:3254752G>C	ENST00000304646.2	+	1	506	c.506G>C	c.(505-507)tGt>tCt	p.C169S	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	169					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						CTCTCATTCTGTGCAGACAAT	0.512																																																	0								ENSG00000168124						133.0	111.0	118.0					16																	3254752		2197	4300	6497	OR1F1	SO:0001583	missense	0			-	HGNC	Y14442	CCDS10496.1	16p13.3	2012-08-09			ENSG00000168124	ENSG00000168124		"""GPCR / Class A : Olfactory receptors"""	8194	protein-coding gene	gene with protein product		603232		OR1F4, OR1F6, OR1F7, OR1F8, OR1F9, OR1F5, OR1F10, OR1F13P		9288094, 9500546	Standard	NM_012360		Approved	Olfmf, OR16-36, OR16-37, OR16-88, OR16-89, OR16-90, OLFMF, OR3-145	uc010uwu.2	O43749	OTTHUMG00000133153	ENST00000304646.2:c.506G>C	16.37:g.3254752G>C	ENSP00000305424:p.Cys169Ser	Somatic	0	30	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	11	35.29	O15246|Q6IFL5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.C169S	ENST00000304646.2	37	c.506	CCDS10496.1	16	.	.	.	.	.	.	.	.	.	.	G	15.03	2.713210	0.48517	.	.	ENSG00000168124	ENST00000304646	T	0.00211	8.54	5.16	5.16	0.70880	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000008	T	0.00845	0.0028	M	0.93854	3.465	0.50039	D	0.999841	D	0.67145	0.996	D	0.72075	0.976	T	0.61520	-0.7046	10	0.66056	D	0.02	.	16.114	0.81289	0.0:0.0:1.0:0.0	.	169	O43749	OR1F1_HUMAN	S	169	ENSP00000305424:C169S	ENSP00000305424:C169S	C	+	2	0	OR1F1	3194753	1.000000	0.71417	0.889000	0.34880	0.357000	0.29423	7.310000	0.78947	2.384000	0.81235	0.393000	0.25936	TGT	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.512	OR1F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1F1	protein_coding	OTTHUMT00000206985.1	G		-		3254752	+1	no_errors	ENST00000304646	ensembl	human	known	74_37	missense	SNP	1.000	C
MYL6	4637	genome.wustl.edu	37	12	56553915	56553915	+	Missense_Mutation	SNP	A	A	G	rs1804001		TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr12:56553915A>G	ENST00000550697.1	+	4	573	c.332A>G	c.(331-333)cAt>cGt	p.H111R	RP11-603J24.14_ENST00000548731.1_RNA|MYL6_ENST00000348108.4_Missense_Mutation_p.H112R|MYL6_ENST00000551589.1_Missense_Mutation_p.H111R|MYL6_ENST00000549566.1_Missense_Mutation_p.H156R|MYL6_ENST00000548580.1_Missense_Mutation_p.H63R|MYL6_ENST00000547408.1_Missense_Mutation_p.H111R|MYL6_ENST00000293422.5_Missense_Mutation_p.H112R|MYL6_ENST00000549017.1_Missense_Mutation_p.H7R|MYL6_ENST00000548400.1_Missense_Mutation_p.H75R|RP11-977G19.5_ENST00000553176.1_RNA|MYL6_ENST00000548293.1_Missense_Mutation_p.H111R|MYL6_ENST00000547649.1_Missense_Mutation_p.H111R|MYL6_ENST00000536128.1_Missense_Mutation_p.H204R	NM_021019.4	NP_066299.2	P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and non-muscle	111	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle tissue development (GO:0007519)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|unconventional myosin complex (GO:0016461)|vesicle (GO:0031982)	actin-dependent ATPase activity (GO:0030898)|calcium ion binding (GO:0005509)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			GAAATCCGGCATGTTCTTGTC	0.498																																																	0								ENSG00000092841						76.0	72.0	74.0					12																	56553915		2203	4300	6503	MYL6	SO:0001583	missense	0			-	HGNC	AB046613	CCDS8906.1, CCDS31834.1	12q13.13	2013-01-10	2006-09-29			ENSG00000092841		"""Myosins / Light chain"", ""EF-hand domain containing"""	7587	protein-coding gene	gene with protein product		609931	"""myosin, light polypeptide 6, alkali, smooth muscle and non-muscle"""			8188229, 2304459, 2722814	Standard	NM_021019		Approved	ESMLC, MLC3NM, MLC1SM	uc001sjx.2	P60660		ENST00000550697.1:c.332A>G	12.37:g.56553915A>G	ENSP00000446955:p.His111Arg	Somatic	0	71	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	8	42.86	P16475|P24572|P24573|Q12790|Q561V9|Q6IAZ0|Q6IPY5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	smart_EF_hand_dom,pfscan_EF_hand_dom	p.H111R	ENST00000550697.1	37	c.332	CCDS8906.1	12	.	.	.	.	.	.	.	.	.	.	A	18.58	3.655185	0.67472	.	.	ENSG00000092841	ENST00000550697;ENST00000548580;ENST00000293422;ENST00000348108;ENST00000549017;ENST00000549566;ENST00000536128;ENST00000547649;ENST00000547408;ENST00000551589;ENST00000553056;ENST00000549392;ENST00000548400;ENST00000548293	D;D;D;D;T;D;D;D;D;D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86;1.07;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86	4.19	4.19	0.49359	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.89178	0.6641	M	0.68317	2.08	0.80722	D	1	D;P;D;D	0.62365	0.99;0.879;0.991;0.971	P;P;P;P	0.58873	0.691;0.609;0.847;0.809	D	0.90368	0.4378	10	0.87932	D	0	.	12.662	0.56820	1.0:0.0:0.0:0.0	.	204;111;111;111	B7Z6Z4;P60660-2;P60660;F8W1R7	.;.;MYL6_HUMAN;.	R	111;63;112;112;7;156;204;111;111;111;111;99;75;111	ENSP00000446955:H111R;ENSP00000446640:H63R;ENSP00000293422:H112R;ENSP00000301540:H112R;ENSP00000449086:H7R;ENSP00000446709:H156R;ENSP00000441750:H204R;ENSP00000446714:H111R;ENSP00000446721:H111R;ENSP00000446687:H111R;ENSP00000450116:H99R;ENSP00000448859:H75R;ENSP00000448101:H111R	ENSP00000293422:H112R	H	+	2	0	MYL6	54840182	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	9.125000	0.94402	1.898000	0.54952	0.379000	0.24179	CAT	-	smart_EF_hand_dom,pfscan_EF_hand_dom		0.498	MYL6-003	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	MYL6	protein_coding	OTTHUMT00000407928.3	A		-		56553915	+1	no_errors	ENST00000547649	ensembl	human	known	74_37	missense	SNP	1.000	G
PDGFRB	5159	genome.wustl.edu	37	5	149501616	149501616	+	Intron	SNP	G	G	A			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr5:149501616G>A	ENST00000261799.4	-	16	2653					NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide						adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GGGGGTAAAGGAGCATCACAG	0.567			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																			Dom	yes		5	5q31-q32	5159	"""platelet-derived growth factor receptor, beta polypeptide"""		L	0								ENSG00000113721						104.0	87.0	93.0					5																	149501616		2203	4300	6503	PDGFRB	SO:0001627	intron_variant	0			-	HGNC	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.2184-13C>T	5.37:g.149501616G>A		Somatic	0	30	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	19	20.83	B5A957|Q8N5L4	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000261799.4	37	NULL	CCDS4303.1	5																																																																																			-	-		0.567	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDGFRB	protein_coding	OTTHUMT00000252332.1	G	NM_002609	-		149501616	-1	no_errors	ENST00000519575	ensembl	human	known	74_37	rna	SNP	0.078	A
CASP8AP2	9994	genome.wustl.edu	37	6	90567030	90567030	+	RNA	DEL	T	T	-	rs374599586		TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr6:90567030delT	ENST00000551025.1	+	0	1853									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		tattttttaattttttttttt	0.328																																					Colon(187;1656 2025 17045 31481 39901)												0								ENSG00000118412																																			CASP8AP2			0				HGNC	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90567030delT		Somatic	0	73	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33		RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000551025.1	37	NULL		6																																																																																			-	-		0.328	CASP8AP2-202	KNOWN	basic	processed_transcript	CASP8AP2	processed_transcript		T	NM_001137667			90567030	+1	no_errors	ENST00000444163	ensembl	human	known	74_37	rna	DEL	0.228	-
SPEG	10290	genome.wustl.edu	37	2	220330668	220330669	+	Intron	INS	-	-	GT	rs554914793		TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr2:220330668_220330669insGT	ENST00000312358.7	+	10	3013				SPEG_ENST00000396695.2_Intron|SPEG_ENST00000396688.1_Intron|SPEG_ENST00000485813.1_Intron|SPEG_ENST00000396686.1_Intron|SPEG_ENST00000396698.1_Intron|SPEG_ENST00000396689.2_Intron	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus						cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		tgcacgtgtgcgtgcatgtgtg	0.589																																																	0								ENSG00000072195																																			SPEG	SO:0001627	intron_variant	0				HGNC	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.2882-1227->GT	2.37:g.220330669_220330670dupGT		Somatic	0	21	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	13	23.53	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000312358.7	37	NULL	CCDS42824.1	2																																																																																			-	-		0.589	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEG	protein_coding	OTTHUMT00000130252.2	-	NM_005876			220330669	+1	no_errors	ENST00000462545	ensembl	human	known	74_37	rna	INS	0.000:0.003	GT
SIX5	147912	genome.wustl.edu	37	19	46265047	46265048	+	IGR	INS	-	-	TCCAGC	rs139434566|rs59054027		TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr19:46265047_46265048insTCCAGC	ENST00000317578.6	-	0	3318				AC074212.3_ENST00000457052.2_In_Frame_Ins_p.453_453S>SSS|AC074212.5_ENST00000559756.1_RNA	NM_175875.4	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5						lens development in camera-type eye (GO:0002088)|negative regulation of cell proliferation (GO:0008285)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		GCAAGGCGCCAtccagctccag	0.658																																																	0								ENSG00000237452																																			AC074212.3	SO:0001628	intergenic_variant	0				Clone_based_vega_gene	L08835	CCDS12673.1	19q13.32	2011-06-20	2007-07-13			ENSG00000177045		"""Homeoboxes / SINE class"""	10891	protein-coding gene	gene with protein product		600963	"""sine oculis homeobox (Drosophila) homolog 5"", ""sine oculis homeobox homolog 5 (Drosophila)"""	DMAHP		8595416	Standard	NM_175875		Approved		uc002pdb.3	Q8N196			19.37:g.46265048_46265053dupTCCAGC		Somatic	NA	NA	NA		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA		In_Frame_Ins	INS	NA	NA	NA	NA	NA	NA	pfam_HMG_box_dom,pfam_bHLH_dom,superfamily_HMG_box_dom,superfamily_bHLH_dom,smart_HMG_box_dom,pfscan_bHLH_dom,pfscan_HMG_box_dom	p.456in_frame_insSS	ENST00000317578.6	37	c.1356_1357	CCDS12673.1	19																																																																																			-	NULL		0.658	SIX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000237452	protein_coding	OTTHUMT00000417341.3	-	NM_175875			46265048	+1	no_errors	ENST00000457052	ensembl	human	putative	74_37	in_frame_ins	INS	0.000:0.004	TCCAGC
RCBTB2	1102	genome.wustl.edu	37	13	49086897	49086897	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr13:49086897delA	ENST00000344532.3	-	7	907	c.484delT	c.(484-486)tacfs	p.Y162fs	RCBTB2_ENST00000544492.1_Intron|RCBTB2_ENST00000430805.2_Frame_Shift_Del_p.Y167fs|RCBTB2_ENST00000544904.1_Frame_Shift_Del_p.Y138fs|RCBTB2_ENST00000481144.1_5'UTR	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	162					positive regulation of Ran GTPase activity (GO:0032853)	acrosomal vesicle (GO:0001669)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		AAAGAATGGTAAGACCCACAG	0.398																																																	0								ENSG00000136161						137.0	126.0	130.0					13																	49086897		2203	4300	6503	RCBTB2	SO:0001589	frameshift_variant	0				HGNC	AF060219	CCDS9411.1, CCDS73570.1, CCDS73571.1, CCDS73572.1	13q14.3	2013-01-08	2005-05-09	2005-05-09	ENSG00000136161	ENSG00000136161		"""BTB/POZ domain containing"""	1914	protein-coding gene	gene with protein product		603524	"""chromosome condensation 1-like"""	CHC1L		9806834	Standard	XM_005266242		Approved		uc001vch.3	O95199	OTTHUMG00000016902	ENST00000344532.3:c.484delT	13.37:g.49086897delA	ENSP00000345144:p.Tyr162fs	Somatic	0	82	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	14	12.50	B2RDW8	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Reg_chr_condens,pfam_BTB_POZ,superfamily_RCC1/BLIP-II,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.Y167fs	ENST00000344532.3	37	c.499	CCDS9411.1	13																																																																																			-	pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens		0.398	RCBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RCBTB2	protein_coding	OTTHUMT00000044888.2	A	NM_001268			49086897	-1	no_errors	ENST00000430805	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-
PIK3R1	5295	genome.wustl.edu	37	5	67591993	67591993	+	Intron	SNP	G	G	T			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr5:67591993G>T	ENST00000521381.1	+	15	2430				PIK3R1_ENST00000336483.5_Intron|PIK3R1_ENST00000320694.8_Intron|PIK3R1_ENST00000396611.1_Silent_p.L611L|PIK3R1_ENST00000274335.5_Intron|PIK3R1_ENST00000521657.1_Intron|PIK3R1_ENST00000523872.1_Intron	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)						B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	TGTCCTGCCTGCCTAGCCAAT	0.502			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																														Rec	yes		5	5q13.1	5295	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""		"""E, O"""	2	Whole gene deletion(1)|Unknown(1)	large_intestine(1)|lung(1)						ENSG00000145675						100.0	92.0	95.0					5																	67591993		2203	4300	6503	PIK3R1	SO:0001627	intron_variant	0			-	HGNC	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1815-6G>T	5.37:g.67591993G>T		Somatic	0	52	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2	p.L611	ENST00000521381.1	37	c.1833	CCDS3993.1	5																																																																																			-	NULL		0.502	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R1	protein_coding	OTTHUMT00000254013.2	G	NM_181504	-		67591993	+1	no_errors	ENST00000396611	ensembl	human	known	74_37	silent	SNP	0.000	T
WDR73	84942	genome.wustl.edu	37	15	85186877	85186894	+	In_Frame_Del	DEL	CTTGGCTCCGTGTTCCAT	CTTGGCTCCGTGTTCCAT	-	rs370347033|rs373448317|rs11267906|rs372798651|rs199676984	byFrequency	TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	CTTGGCTCCGTGTTCCAT	CTTGGCTCCGTGTTCCAT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr15:85186877_85186894delCTTGGCTCCGTGTTCCAT	ENST00000434634.2	-	8	1004_1021	c.944_961delATGGAACACGGAGCCAAG	c.(943-963)gatggaacacggagccaagta>gta	p.DGTRSQ315del	SCAND2P_ENST00000348993.5_RNA|WDR73_ENST00000398528.3_5'UTR	NM_032856.2	NP_116245.2	Q6P4I2	WDR73_HUMAN	WD repeat domain 73	315										cervix(1)|large_intestine(1)|lung(1)	3						AGAGGTTCTACTTGGCTCCGTGTTCCATCTTGGCTCCG	0.509														794	0.158546	0.1399	0.1383	5008	,	,		21272	0.0843		0.2038	False		,,,				2504	0.228																0								ENSG00000177082			344,3500		48,248,1626						-0.4	0.0		dbSNP_120	111	1220,6750		177,866,2942	no	coding	WDR73	NM_032856.2		225,1114,4568	A1A1,A1R,RR		15.3074,8.949,13.2385				1564,10250				WDR73	SO:0001651	inframe_deletion	0				HGNC	AK027200	CCDS45339.1	15q25.2	2013-01-09				ENSG00000177082		"""WD repeat domain containing"""	25928	protein-coding gene	gene with protein product						12477932	Standard	NM_032856		Approved	FLJ14888, HSPC264	uc002bkw.2	Q6P4I2		ENST00000434634.2:c.944_961delATGGAACACGGAGCCAAG	15.37:g.85186877_85186894delCTTGGCTCCGTGTTCCAT	ENSP00000387982:p.Asp315_Gln320del	Somatic	NA	NA	NA		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	Q96JZ1|Q9P0B7	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.DGTRSQ315in_frame_del	ENST00000434634.2	37	c.961_944	CCDS45339.1	15																																																																																			-	superfamily_WD40_repeat_dom		0.509	WDR73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR73	protein_coding	OTTHUMT00000418195.1	CTTGGCTCCGTGTTCCAT	NM_032856			85186894	-1	no_errors	ENST00000434634	ensembl	human	known	74_37	in_frame_del	DEL	0.001:0.001:0.001:0.001:0.001:0.001:0.002:0.005:0.007:0.007:0.010:0.012:0.012:0.011:0.010:0.009:0.007:0.005	-
ITIH5	80760	genome.wustl.edu	37	10	7657968	7657968	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr10:7657968T>C	ENST00000256861.6	-	7	994	c.916A>G	c.(916-918)Atg>Gtg	p.M306V	ITIH5_ENST00000397146.2_Missense_Mutation_p.M306V|ITIH5_ENST00000446830.2_Missense_Mutation_p.M88V|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000298441.6_Missense_Mutation_p.M92V|ITIH5_ENST00000397145.2_Missense_Mutation_p.M306V	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	306	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GTTCCCACCATAGAAGCACTG	0.478																																																	0								ENSG00000123243						124.0	116.0	119.0					10																	7657968		2203	4300	6503	ITIH5	SO:0001583	missense	0			-	HGNC			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.916A>G	10.37:g.7657968T>C	ENSP00000256861:p.Met306Val	Somatic	0	95	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	22	53.19	Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.M306V	ENST00000256861.6	37	c.916		10	.	.	.	.	.	.	.	.	.	.	T	21.9	4.216075	0.79352	.	.	ENSG00000123243	ENST00000256861;ENST00000397146;ENST00000298441;ENST00000446830;ENST00000397145	D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72	6.08	6.08	0.98989	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.91479	0.7310	.	.	.	0.54753	D	0.999985	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.987;0.957	D	0.92399	0.5928	9	0.87932	D	0	-58.5449	16.3164	0.82930	0.0:0.0:0.0:1.0	.	306;306;92	G5E9D8;Q86UX2;Q86UX2-3	.;ITIH5_HUMAN;.	V	306;306;92;88;306	ENSP00000256861:M306V;ENSP00000380333:M306V;ENSP00000298441:M92V;ENSP00000387969:M88V;ENSP00000380332:M306V	ENSP00000256861:M306V	M	-	1	0	ITIH5	7697974	1.000000	0.71417	0.998000	0.56505	0.746000	0.42486	7.477000	0.81069	2.330000	0.79161	0.533000	0.62120	ATG	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.478	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	ITIH5	protein_coding	OTTHUMT00000046688.1	T	NM_030569	-		7657968	-1	no_errors	ENST00000256861	ensembl	human	known	74_37	missense	SNP	1.000	C
ERBB2	2064	genome.wustl.edu	37	17	37883121	37883121	+	Silent	SNP	G	G	T			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr17:37883121G>T	ENST00000269571.5	+	25	3183	c.3024G>T	c.(3022-3024)ctG>ctT	p.L1008L	ERBB2_ENST00000584450.1_Silent_p.L1008L|ERBB2_ENST00000540147.1_Silent_p.L978L|ERBB2_ENST00000541774.1_Silent_p.L993L|ERBB2_ENST00000445658.2_Silent_p.L732L|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000584601.1_Silent_p.L978L|MIEN1_ENST00000474210.1_5'Flank|ERBB2_ENST00000406381.2_Silent_p.L978L			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	1008					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	ACCGCTCACTGCTGGAGGACG	0.642		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																														Dom	yes		17	17q21.1	2064	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""		E	0								ENSG00000141736						104.0	105.0	105.0					17																	37883121		2203	4300	6503	ERBB2	SO:0001819	synonymous_variant	0			-	HGNC	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.3024G>T	17.37:g.37883121G>T		Somatic	0	19	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	10	23.08	B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Silent	SNP	NA	NA	NA	NA	NA	NA	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.L1008	ENST00000269571.5	37	c.3024	CCDS32642.1	17																																																																																			-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,superfamily_Kinase-like_dom		0.642	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	protein_coding	OTTHUMT00000445621.2	G		-		37883121	+1	no_errors	ENST00000269571	ensembl	human	known	74_37	silent	SNP	0.996	T
HIST1H2AC	8334	genome.wustl.edu	37	6	26124497	26124497	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr6:26124497G>A	ENST00000602637.1	+	1	67	c.37G>A	c.(37-39)Gcc>Acc	p.A13T	HIST1H2BC_ENST00000314332.5_5'Flank|HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.A13T|HIST1H2BC_ENST00000396984.1_5'Flank			Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	13						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						CAAAGCTCGCGCCAAAGCGAA	0.557																																																	0								ENSG00000180573						54.0	54.0	54.0					6																	26124497		2203	4300	6503	HIST1H2AC	SO:0001583	missense	0			-	HGNC	Z80778	CCDS4585.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000180573	ENSG00000180573		"""Histones / Replication-dependent"""	4733	protein-coding gene	gene with protein product		602794	"""H2A histone family, member L"", ""histone 1, H2ac"""	H2AFL		9119399, 12408966	Standard	NM_003512		Approved		uc003ngm.3	Q93077	OTTHUMG00000014428	ENST00000602637.1:c.37G>A	6.37:g.26124497G>A	ENSP00000473534:p.Ala13Thr	Somatic	0	61	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	38	34.48	B2R4F7|O00775|O00776|O00777|O00778|Q540R1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.A13T	ENST00000602637.1	37	c.37	CCDS4585.1	6	.	.	.	.	.	.	.	.	.	.	.	21.3	4.131684	0.77662	.	.	ENSG00000180573	ENST00000377791;ENST00000314088	T;T	0.44083	0.93;0.93	5.78	5.78	0.91487	Histone-fold (2);Histone H2A (1);	0.000000	0.44285	D	0.000478	T	0.17365	0.0417	N	0.21545	0.675	0.53005	D	0.999963	P	0.41546	0.754	B	0.28916	0.096	T	0.03555	-1.1025	10	0.40728	T	0.16	.	19.3632	0.94451	0.0:0.0:1.0:0.0	.	13	Q93077	H2A1C_HUMAN	T	13	ENSP00000367022:A13T;ENSP00000321389:A13T	ENSP00000321389:A13T	A	+	1	0	HIST1H2AC	26232476	1.000000	0.71417	0.332000	0.25469	0.097000	0.18754	9.565000	0.98154	2.894000	0.99253	0.591000	0.81541	GCC	-	superfamily_Histone-fold,smart_Histone_H2A		0.557	HIST1H2AC-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AC	protein_coding	OTTHUMT00000468023.1	G	NM_003512	-		26124497	+1	no_errors	ENST00000314088	ensembl	human	known	74_37	missense	SNP	1.000	A
C4orf22	255119	genome.wustl.edu	37	4	81791167	81791167	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr4:81791167C>G	ENST00000358105.3	+	4	403	c.354C>G	c.(352-354)gaC>gaG	p.D118E	C4orf22_ENST00000508675.1_Missense_Mutation_p.D135E	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	118										NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						TTATTCGTGACAGAAATTCTC	0.363																																																	0								ENSG00000197826						106.0	108.0	108.0					4																	81791167		2203	4300	6503	C4orf22	SO:0001583	missense	0			-	HGNC	BC034296	CCDS3587.1, CCDS56336.1	4q21.21	2008-02-05			ENSG00000197826	ENSG00000197826			28554	protein-coding gene	gene with protein product						12477932	Standard	NM_152770		Approved		uc010ijp.3	Q6V702	OTTHUMG00000130289	ENST00000358105.3:c.354C>G	4.37:g.81791167C>G	ENSP00000350818:p.Asp118Glu	Somatic	0	62	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	18	45.45	E7EQ13|Q6ZQY4|Q8N4G9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.D135E	ENST00000358105.3	37	c.405	CCDS3587.1	4	.	.	.	.	.	.	.	.	.	.	C	12.99	2.104416	0.37145	.	.	ENSG00000197826	ENST00000358105;ENST00000508675	T;T	0.31510	1.49;1.49	4.77	3.93	0.45458	.	0.000000	0.85682	D	0.000000	T	0.56992	0.2023	M	0.91090	3.175	0.31966	N	0.607824	D;D	0.89917	1.0;0.997	D;D	0.79784	0.993;0.948	T	0.65096	-0.6251	10	0.34782	T	0.22	-14.6608	6.9769	0.24681	0.0:0.725:0.0:0.275	.	135;118	E7EQ13;Q6V702	.;CD022_HUMAN	E	118;135	ENSP00000350818:D118E;ENSP00000425786:D135E	ENSP00000350818:D118E	D	+	3	2	C4orf22	82010191	0.996000	0.38824	0.998000	0.56505	0.120000	0.20174	1.129000	0.31381	1.120000	0.41904	0.585000	0.79938	GAC	-	NULL		0.363	C4orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4orf22	protein_coding	OTTHUMT00000252629.2	C	NM_152770	-		81791167	+1	no_errors	ENST00000508675	ensembl	human	known	74_37	missense	SNP	0.999	G
GOLGA4	2803	genome.wustl.edu	37	3	37360696	37360697	+	Intron	INS	-	-	T	rs532989212		TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr3:37360696_37360697insT	ENST00000361924.2	+	12	1919				GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Intron|GOLGA4_ENST00000435830.2_3'UTR	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4						Golgi to plasma membrane protein transport (GO:0043001)|protein targeting to Golgi (GO:0000042)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	GTPase binding (GO:0051020)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GTAAGTGACTATTTTTTTTTTT	0.416																																																	0								ENSG00000144674																																			GOLGA4	SO:0001627	intron_variant	0				HGNC	U31906	CCDS2666.1, CCDS54564.1	3p22-p21.3	2010-02-12	2010-02-12		ENSG00000144674	ENSG00000144674			4427	protein-coding gene	gene with protein product	"""golgin 245"""	602509	"""golgi autoantigen, golgin subfamily a, 4"""			8626529	Standard	NM_002078		Approved	GOLG, GCP2, p230, golgin-240	uc003cgw.3	Q13439	OTTHUMG00000130799	ENST00000361924.2:c.1545+11->T	3.37:g.37360707_37360707dupT		Somatic	0	54	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	29	17.14	F8W8Q7|Q13270|Q13654|Q14436|Q59EW8	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000361924.2	37	NULL	CCDS2666.1	3																																																																																			-	-		0.416	GOLGA4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGA4	protein_coding	OTTHUMT00000253339.2	-	NM_002078			37360697	+1	no_errors	ENST00000435830	ensembl	human	known	74_37	rna	INS	0.000:0.005	T
NOP56	10528	genome.wustl.edu	37	20	2633378	2633379	+	Intron	INS	-	-	GAGCCTGGGCCT	rs71328095|rs149713688	byFrequency	TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr20:2633378_2633379insGAGCCTGGGCCT	ENST00000329276.5	+	1	519				SNORA51_ENST00000606420.1_RNA|MIR1292_ENST00000408135.1_RNA|SNORD110_ENST00000408189.1_RNA	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein						cell death (GO:0008219)|rRNA processing (GO:0006364)	box C/D snoRNP complex (GO:0031428)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snoRNA binding (GO:0030515)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						GGCCGCAGACAgggcctgggcc	0.748														1743	0.348043	0.2655	0.3329	5008	,	,		12117	0.4038		0.325	False		,,,				2504	0.4366																0								ENSG00000101361			2444,1274		918,608,333						-1.2	0.0		dbSNP_134	7	4565,2715		1533,1499,608	no	intron	NOP56	NM_006392.3		2451,2107,941	A1A1,A1R,RR		37.294,34.2657,36.2702				7009,3989				NOP56	SO:0001627	intron_variant	0				HGNC	Y12065	CCDS13030.1	20p13	2012-12-10	2012-12-10	2009-01-13	ENSG00000101361	ENSG00000101361			15911	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 36"""	614154	"""nucleolar protein 5A (56kD with KKE/D repeat)"", ""nucleolar protein 5A (56kDa with KKE/D repeat)"", ""NOP56 ribonucleoprotein homolog (yeast)"""	NOL5A		9372940, 21683323	Standard	NR_027700		Approved	SCA36	uc002wgh.3	O00567	OTTHUMG00000031703	ENST00000329276.5:c.3+69->GAGCCTGGGCCT	20.37:g.2633378_2633379insGAGCCTGGGCCT		Somatic	NA	NA	NA		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	Q2M3T6|Q9NQ05	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000329276.5	37	NULL	CCDS13030.1	20																																																																																			-	-		0.748	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP56	protein_coding	OTTHUMT00000077631.2	-	NM_006392			2633379	+1	no_errors	ENST00000469588	ensembl	human	known	74_37	rna	INS	0.000:0.000	GAGCCTGGGCCT
COPB2	9276	genome.wustl.edu	37	3	139085946	139085946	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr3:139085946C>G	ENST00000333188.5	-	14	1768	c.1587G>C	c.(1585-1587)tgG>tgC	p.W529C	COPB2_ENST00000507777.1_Missense_Mutation_p.W500C	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	529					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)	structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						AATCGCCTACCCAAAGCCCTG	0.368																																																	0								ENSG00000184432						88.0	93.0	91.0					3																	139085946		2203	4300	6503	COPB2	SO:0001583	missense	0			-	HGNC	BC000326	CCDS3108.1	3q23	2013-01-10			ENSG00000184432	ENSG00000184432		"""WD repeat domain containing"""	2232	protein-coding gene	gene with protein product		606990				9858824	Standard	NM_004766		Approved	beta'-COP, betaprime-COP	uc003etf.4	P35606	OTTHUMG00000159959	ENST00000333188.5:c.1587G>C	3.37:g.139085946C>G	ENSP00000329419:p.Trp529Cys	Somatic	0	122	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	80	23.81	B4DZI8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pirsf_COPB2,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.W529C	ENST00000333188.5	37	c.1587	CCDS3108.1	3	.	.	.	.	.	.	.	.	.	.	C	21.2	4.117026	0.77323	.	.	ENSG00000184432	ENST00000333188;ENST00000507777;ENST00000512309	T;D	0.89875	-1.19;-2.58	5.73	5.73	0.89815	Coatomer, WD associated region (1);	0.106321	0.64402	D	0.000001	D	0.96670	0.8913	H	0.96269	3.795	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97424	1.0011	10	0.87932	D	0	-17.5309	19.8804	0.96895	0.0:1.0:0.0:0.0	.	529	P35606	COPB2_HUMAN	C	529;500;152	ENSP00000329419:W529C;ENSP00000422295:W500C	ENSP00000329419:W529C	W	-	3	0	COPB2	140568636	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.743000	0.85020	2.702000	0.92279	0.467000	0.42956	TGG	-	pirsf_COPB2,pfam_Coatomer_WD-assoc_reg		0.368	COPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPB2	protein_coding	OTTHUMT00000358495.2	C	NM_004766	-		139085946	-1	no_errors	ENST00000333188	ensembl	human	known	74_37	missense	SNP	1.000	G
BMS1P17	101101776	genome.wustl.edu	37	14	19670720	19670720	+	lincRNA	SNP	A	A	T			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr14:19670720A>T	ENST00000418499.3	+	0	711				BMS1P17_ENST00000550512.1_lincRNA																							TAAAAAGAAAAGTTTGTCTTC	0.294																																																	0								ENSG00000228294																																			BMS1P17			0			-	HGNC																													14.37:g.19670720A>T		Somatic	0	19	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	9	40.00		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000418499.3	37	NULL		14																																																																																			-	-		0.294	AL589743.1-003	KNOWN	basic	lincRNA	BMS1P17	lincRNA	OTTHUMT00000317887.3	A		-		19670720	-1	no_errors	ENST00000550512	ensembl	human	known	74_37	rna	SNP	0.051	T
RP11-43F13.4	0	genome.wustl.edu	37	5	1004310	1004311	+	lincRNA	INS	-	-	GGGTGTGTGT	rs3083863|rs57997780|rs60001138|rs113972325|rs201642892|rs61651856		TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr5:1004310_1004311insGGGTGTGTGT	ENST00000606540.1	+	0	0				AC116351.2_ENST00000408317.1_RNA																							AGGGGACgtgggtgtgtgtgtg	0.589																																																	0								ENSG00000221244																																			AC116351.2			0				Clone_based_ensembl_gene																													5.37:g.1004310_1004311insGGGTGTGTGT		Somatic	NA	NA	NA		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA		RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000606540.1	37	NULL		5																																																																																			-	-		0.589	RP11-43F13.4-001	KNOWN	basic	lincRNA	ENSG00000221244	lincRNA	OTTHUMT00000470457.1	-				1004311	+1	no_errors	ENST00000408317	ensembl	human	novel	74_37	rna	INS	0.034:0.057	GGGTGTGTGT
ZFP62	643836	genome.wustl.edu	37	5	180277448	180277448	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr5:180277448G>T	ENST00000502412.1	-	2	1104	c.1047C>A	c.(1045-1047)agC>agA	p.S349R	ZFP62_ENST00000512132.1_Missense_Mutation_p.S316R|ZFP62_ENST00000359141.6_Missense_Mutation_p.S289R|ZFP62_ENST00000506377.1_Intron	NM_001172638.1	NP_001166109.1	Q8NB50	ZFP62_HUMAN	ZFP62 zinc finger protein	349					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(2)|pancreas(1)	4	all_cancers(89;4.01e-05)|all_epithelial(37;4.69e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00469)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGAGAAGAGAGCTATAATTAA	0.398																																																	0								ENSG00000196670						64.0	57.0	59.0					5																	180277448		692	1591	2283	ZFP62	SO:0001583	missense	0			-	HGNC	AK002206	CCDS47357.1, CCDS47357.2, CCDS54955.1	5q35.3	2013-01-08	2012-11-27			ENSG00000196670		"""Zinc fingers, C2H2-type"""	23241	protein-coding gene	gene with protein product		610281	"""zinc finger protein 62 homolog (mouse)"", ""zinc finger protein 62"""			8808410	Standard	NM_152283		Approved	FLJ34231, ZET, ZNF755	uc011dhf.2	Q8NB50		ENST00000502412.1:c.1047C>A	5.37:g.180277448G>T	ENSP00000423820:p.Ser349Arg	Somatic	0	46	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	B4DIP6|B4E0N3|B5MDX6|B7ZVZ2|B9EIP6|E9PFT8|J3QTA9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S316R	ENST00000502412.1	37	c.948	CCDS54955.1	5	.	.	.	.	.	.	.	.	.	.	.	5.609	0.297062	0.10622	.	.	ENSG00000196670	ENST00000512132;ENST00000359141;ENST00000502412	T;T;T	0.06768	3.26;3.26;3.26	4.45	1.55	0.23275	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03739	0.0106	N	0.20483	0.58	0.21325	N	0.999725	B	0.31989	0.35	B	0.21360	0.034	T	0.42949	-0.9421	9	0.18276	T	0.48	.	2.8588	0.05580	0.3542:0.0:0.4448:0.2009	.	349	Q8NB50	ZFP62_HUMAN	R	316;289;349	ENSP00000426193:S316R;ENSP00000352053:S289R;ENSP00000423820:S349R	ENSP00000352053:S289R	S	-	3	2	ZFP62	180210054	0.000000	0.05858	0.999000	0.59377	0.978000	0.69477	-2.274000	0.01163	0.328000	0.23435	0.655000	0.94253	AGC	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.398	ZFP62-002	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ZFP62	protein_coding	OTTHUMT00000368386.2	G	NM_152283	-		180277448	-1	no_errors	ENST00000512132	ensembl	human	known	74_37	missense	SNP	0.993	T
MTTP	4547	genome.wustl.edu	37	4	100515985	100515985	+	Missense_Mutation	SNP	C	C	T	rs566965111		TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr4:100515985C>T	ENST00000265517.5	+	7	1057	c.854C>T	c.(853-855)aCg>aTg	p.T285M	RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000457717.1_Missense_Mutation_p.T285M|MTTP_ENST00000511045.1_Missense_Mutation_p.T312M			P55157	MTP_HUMAN	microsomal triglyceride transfer protein	285	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|protein lipidation (GO:0006497)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|microvillus membrane (GO:0031528)|receptor complex (GO:0043235)|rough endoplasmic reticulum (GO:0005791)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)|Lomitapide(DB08827)	TCAAAGTACACGGCCATTCCC	0.468																																																	0								ENSG00000138823						115.0	105.0	108.0					4																	100515985		2203	4300	6503	MTTP	SO:0001583	missense	0			-	HGNC		CCDS3651.1, CCDS75169.1	4q24	2008-02-05	2005-11-04	2005-11-04	ENSG00000138823	ENSG00000138823			7467	protein-coding gene	gene with protein product		157147	"""microsomal triglyceride transfer protein (large polypeptide, 88kD)"", ""microsomal triglyceride transfer protein (large polypeptide, 88kDa)"""	MTP		8111381	Standard	XM_005263025		Approved	ABL	uc003hvc.4	P55157	OTTHUMG00000131023	ENST00000265517.5:c.854C>T	4.37:g.100515985C>T	ENSP00000265517:p.Thr285Met	Somatic	0	67	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	A8K428|Q08AM4|Q6P5T3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.T285M	ENST00000265517.5	37	c.854	CCDS3651.1	4	.	.	.	.	.	.	.	.	.	.	C	7.147	0.583000	0.13749	.	.	ENSG00000138823	ENST00000511045;ENST00000457717;ENST00000265517;ENST00000538053	T;T;T	0.70516	-0.49;-0.49;-0.49	4.96	-7.08	0.01558	Lipid transport protein, N-terminal (3);Vitellinogen, superhelical (1);	0.904197	0.09806	N	0.753430	T	0.51363	0.1670	L	0.44542	1.39	0.09310	N	1	P;P	0.47034	0.889;0.711	B;B	0.42798	0.398;0.224	T	0.46400	-0.9194	10	0.33141	T	0.24	-34.9419	0.9275	0.01327	0.3762:0.1045:0.1805:0.3389	.	312;285	E9PBP6;P55157	.;MTP_HUMAN	M	312;285;285;285	ENSP00000427679:T312M;ENSP00000400821:T285M;ENSP00000265517:T285M	ENSP00000265517:T285M	T	+	2	0	MTTP	100735008	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	-0.222000	0.09190	-1.087000	0.03081	0.563000	0.77884	ACG	-	pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N		0.468	MTTP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTTP	protein_coding	OTTHUMT00000253662.3	C		-		100515985	+1	no_errors	ENST00000265517	ensembl	human	known	74_37	missense	SNP	0.000	T
ZNF286A	57335	genome.wustl.edu	37	17	15639142	15639142	+	Intron	SNP	G	G	A	rs199625653		TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr17:15639142G>A	ENST00000413242.2	+	8	2132				AC005324.6_ENST00000434017.1_RNA|AC005324.6_ENST00000433873.1_RNA|TBC1D26_ENST00000437605.2_Intron|TBC1D26_ENST00000579428.1_Intron|ZNF286A_ENST00000593105.1_Intron			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		CTCTCCTGTCGGTCCAGCCTG	0.592																																																	0								ENSG00000233002																																			AC005324.6	SO:0001627	intron_variant	0			-	Clone_based_vega_gene	AF217226	CCDS11172.1, CCDS73997.1	17p11.2	2013-02-14	2007-01-05	2007-01-05		ENSG00000187607		"""Zinc fingers, C2H2-type"", ""-"""	13501	protein-coding gene	gene with protein product			"""zinc finger protein 286"""	ZNF286		11347906	Standard	NM_020652		Approved	KIAA1874	uc010cot.3	Q9HBT8	OTTHUMG00000166448	ENST00000413242.2:c.1563+149G>A	17.37:g.15639142G>A		Somatic	0	9	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	5	44.44	B4DKF9|Q96JF3	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000413242.2	37	NULL	CCDS11172.1	17																																																																																			-	-		0.592	ZNF286A-001	KNOWN	basic|appris_candidate_longest|readthrough_transcript|CCDS	nonsense_mediated_decay	ENSG00000233002	protein_coding	OTTHUMT00000130697.4	G	NM_020652	rs199625653		15639142	-1	no_errors	ENST00000434017	ensembl	human	known	74_37	rna	SNP	0.004	A
CCNYL2	414194	genome.wustl.edu	37	10	42924561	42924594	+	RNA	DEL	CACCTTTGCTTGATATGATAATATAGTGCCAAGG	CACCTTTGCTTGATATGATAATATAGTGCCAAGG	-	rs372503885|rs74262004|rs6143878	byFrequency	TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	CACCTTTGCTTGATATGATAATATAGTGCCAAGG	CACCTTTGCTTGATATGATAATATAGTGCCAAGG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr10:42924561_42924594delCACCTTTGCTTGATATGATAATATAGTGCCAAGG	ENST00000483242.3	-	0	804_835					NR_103829.1		Q5T2Q4	CCYL2_HUMAN	cyclin Y-like 2						regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)			p.?(4)		breast(2)|endometrium(1)|lung(3)|ovary(1)	7						TAAAAAAGCTCACCTTTGCTTGATATGATAATATAGTGCCAAGGTCACACTGTG	0.355														1695	0.338458	0.289	0.2723	5008	,	,		18253	0.2411		0.3191	False		,,,				2504	0.5726																4	Unknown(4)	breast(4)						ENSG00000182632																																			CCNYL2			0				HGNC	BC039000		10q11.21	2007-02-09	2007-02-09	2007-02-09	ENSG00000182632	ENSG00000182632			23495	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 21"""	C10orf21			Standard	NR_103829		Approved	bA178A10.2		Q5T2Q4	OTTHUMG00000018009		10.37:g.42924561_42924594delCACCTTTGCTTGATATGATAATATAGTGCCAAGG		Somatic	NA	NA	NA		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA		Splice_Site	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000483242.3	37	c.NULL		10																																																																																			-	-		0.355	CCNYL2-002	KNOWN	basic	processed_transcript	CCNYL2	pseudogene	OTTHUMT00000047670.5	CACCTTTGCTTGATATGATAATATAGTGCCAAGG	XM_936368			42924594	-1	no_errors	ENST00000483242	ensembl	human	known	74_37	splice_site_del	DEL	1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.997:0.995:1.000:1.000:0.999:1.000:0.996:0.996:0.999	-
ITK	3702	genome.wustl.edu	37	5	156641307	156641307	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr5:156641307C>T	ENST00000422843.3	+	4	583	c.431C>T	c.(430-432)gCc>gTc	p.A144V	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	144					activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cellular defense response (GO:0006968)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|intracellular signal transduction (GO:0035556)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		Pazopanib(DB06589)	ACAGGCTGTGCCCAATATGAT	0.403			T	SYK	peripheral T-cell lymphoma																																Esophageal Squamous(70;1378 1469 8785 19883)			Dom	yes		5	5q31-q32	3702	IL2-inducible T-cell kinase		L	0								ENSG00000113263						119.0	116.0	117.0					5																	156641307		2203	4300	6503	ITK	SO:0001583	missense	0			-	HGNC	D13720	CCDS4336.1	5q31-q32	2014-09-17			ENSG00000113263	ENSG00000113263		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	6171	protein-coding gene	gene with protein product		186973				8364206	Standard	NM_005546		Approved	EMT, PSCTK2, LYK	uc003lwo.1	Q08881	OTTHUMG00000130245	ENST00000422843.3:c.431C>T	5.37:g.156641307C>T	ENSP00000398655:p.Ala144Val	Somatic	0	50	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	B2R752|Q32ML7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_Znf_Btk_motif,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_Znf_Btk_motif,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Znf_Btk_motif,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.A144V	ENST00000422843.3	37	c.431	CCDS4336.1	5	.	.	.	.	.	.	.	.	.	.	C	14.63	2.592023	0.46214	.	.	ENSG00000113263	ENST00000521769;ENST00000422843	D;D	0.93712	-3.27;-3.27	5.49	5.49	0.81192	Pleckstrin homology-type (1);Zinc finger, Btk motif (3);	0.457525	0.26373	N	0.024748	D	0.89949	0.6863	L	0.47716	1.5	0.30853	N	0.734395	B	0.09022	0.002	B	0.12156	0.007	D	0.85399	0.1130	10	0.33940	T	0.23	.	12.2927	0.54827	0.0:0.9188:0.0:0.0812	.	144	Q08881	ITK_HUMAN	V	19;144	ENSP00000430327:A19V;ENSP00000398655:A144V	ENSP00000398655:A144V	A	+	2	0	ITK	156573885	0.816000	0.29132	0.996000	0.52242	0.985000	0.73830	1.370000	0.34238	2.565000	0.86533	0.655000	0.94253	GCC	-	pfam_Znf_Btk_motif,smart_Znf_Btk_motif,pfscan_Znf_Btk_motif		0.403	ITK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITK	protein_coding	OTTHUMT00000252569.2	C		-		156641307	+1	no_errors	ENST00000422843	ensembl	human	known	74_37	missense	SNP	0.829	T
NEB	4703	genome.wustl.edu	37	2	152426653	152426653	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr2:152426653C>T	ENST00000172853.10	-	81	12416	c.12269G>A	c.(12268-12270)tGc>tAc	p.C4090Y	NEB_ENST00000409198.1_Missense_Mutation_p.C4090Y|NEB_ENST00000427231.2_Missense_Mutation_p.C5791Y|NEB_ENST00000604864.1_Missense_Mutation_p.C5791Y|NEB_ENST00000397345.3_Missense_Mutation_p.C5791Y|NEB_ENST00000603639.1_Missense_Mutation_p.C5791Y			P20929	NEBU_HUMAN	nebulin	4090					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTCGGGCATGCAGGTCCACTG	0.517																																																	0								ENSG00000183091						48.0	48.0	48.0					2																	152426653		2065	4198	6263	NEB	SO:0001583	missense	0			-	HGNC	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.12269G>A	2.37:g.152426653C>T	ENSP00000172853:p.Cys4090Tyr	Somatic	0	54	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.C5791Y	ENST00000172853.10	37	c.17372		2	.	.	.	.	.	.	.	.	.	.	C	26.5	4.743075	0.89663	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49	5.95	5.95	0.96441	.	0.041535	0.85682	D	0.000000	T	0.62319	0.2418	M	0.82323	2.585	0.80722	D	1	D;D	0.76494	0.999;0.995	D;D	0.87578	0.998;0.98	T	0.62039	-0.6938	10	0.51188	T	0.08	.	20.3789	0.98926	0.0:1.0:0.0:0.0	.	4090;521	P20929;Q14215	NEBU_HUMAN;.	Y	4090;5791;5791;139;521;4090	ENSP00000386259:C4090Y;ENSP00000380505:C5791Y;ENSP00000416578:C5791Y;ENSP00000410961:C521Y;ENSP00000172853:C4090Y	ENSP00000172853:C4090Y	C	-	2	0	NEB	152134899	1.000000	0.71417	0.921000	0.36526	0.995000	0.86356	7.818000	0.86416	2.826000	0.97356	0.563000	0.77884	TGC	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.517	NEB-201	KNOWN	basic	protein_coding	NEB	protein_coding		C	NM_004543	-		152426653	-1	no_errors	ENST00000397345	ensembl	human	known	74_37	missense	SNP	1.000	T
AHCTF1	25909	genome.wustl.edu	37	1	247063653	247063653	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr1:247063653C>A	ENST00000391829.2	-	9	1359	c.1236G>T	c.(1234-1236)atG>atT	p.M412I	AHCTF1_ENST00000326225.3_Missense_Mutation_p.M421I|AHCTF1_ENST00000470300.1_5'Flank|AHCTF1_ENST00000366508.1_Missense_Mutation_p.M447I			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	412	Necessary for cytoplasmic localization. {ECO:0000250}.|Seven-bladed beta propeller repeats. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ACGAATCTGGCATTTGTGCAT	0.343																																					Colon(145;197 1800 4745 15099 26333)												0								ENSG00000153207						67.0	73.0	71.0					1																	247063653		2203	4300	6503	AHCTF1	SO:0001583	missense	0			-	HGNC		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.1236G>T	1.37:g.247063653C>A	ENSP00000375705:p.Met412Ile	Somatic	0	102	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	16	62.79	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	superfamily_Quinonprotein_ADH-like_supfam	p.M421I	ENST00000391829.2	37	c.1263		1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.491310	0.84962	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.54479	0.57;0.57;0.58	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.64483	0.2602	L	0.34521	1.04	0.80722	D	1	D;D	0.71674	0.996;0.998	D;D	0.75484	0.986;0.986	T	0.68059	-0.5509	10	0.72032	D	0.01	-20.0011	18.667	0.91493	0.0:1.0:0.0:0.0	.	447;412	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	I	447;421;412	ENSP00000355464:M447I;ENSP00000355465:M421I;ENSP00000375705:M412I	ENSP00000355465:M421I	M	-	3	0	AHCTF1	245130276	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.256000	0.78350	2.483000	0.83821	0.455000	0.32223	ATG	-	NULL		0.343	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	AHCTF1	protein_coding		C	NM_015446	-		247063653	-1	no_errors	ENST00000326225	ensembl	human	known	74_37	missense	SNP	1.000	A
ZNF90	7643	genome.wustl.edu	37	19	20229235	20229235	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr19:20229235G>A	ENST00000418063.2	+	4	984	c.872G>A	c.(871-873)gGc>gAc	p.G291D	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	291					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|lung(2)|ovary(1)|skin(1)	5						GATAAATGTGGCAGAGCATTT	0.373																																																	0								ENSG00000213988						74.0	76.0	75.0					19																	20229235		692	1591	2283	ZNF90	SO:0001583	missense	0			-	HGNC	M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988		"""Zinc fingers, C2H2-type"", ""-"""	13165	protein-coding gene	gene with protein product		603973	"""zinc finger protein 90 (HTF9)"""			8467795	Standard	NM_007138		Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000418063.2:c.872G>A	19.37:g.20229235G>A	ENSP00000410466:p.Gly291Asp	Somatic	0	65	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	33	37.74	B9EH87	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G291D	ENST00000418063.2	37	c.872	CCDS46028.1	19	.	.	.	.	.	.	.	.	.	.	G	12.38	1.920918	0.33908	.	.	ENSG00000213988	ENST00000418063	T	0.07021	3.23	1.11	1.11	0.20524	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19046	0.0457	L	0.54323	1.7	0.33182	D	0.549733	D	0.89917	1.0	D	0.97110	1.0	T	0.15636	-1.0430	8	.	.	.	.	7.3123	0.26481	0.0:0.0:1.0:0.0	.	291	Q03938	ZNF90_HUMAN	D	291	ENSP00000410466:G291D	.	G	+	2	0	ZNF90	20090235	1.000000	0.71417	0.009000	0.14445	0.009000	0.06853	3.003000	0.49505	0.181000	0.19994	0.184000	0.17185	GGC	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.373	ZNF90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF90	protein_coding	OTTHUMT00000350101.1	G	NM_007138	-		20229235	+1	no_errors	ENST00000418063	ensembl	human	known	74_37	missense	SNP	0.989	A
DCDC1	341019	genome.wustl.edu	37	11	30937233	30937233	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr11:30937233G>A	ENST00000597505.1	-	25	3477	c.3478C>T	c.(3478-3480)Cac>Tac	p.H1160Y	DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000339794.5_Missense_Mutation_p.H239Y			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CAATGCTTGTGCAATTTACTA	0.443																																																	0								ENSG00000170959						102.0	76.0	85.0					11																	30937233		2202	4299	6501	DCDC1	SO:0001583	missense	0			-	HGNC	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.3478C>T	11.37:g.30937233G>A	ENSP00000472625:p.His1160Tyr	Somatic	0	48	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,pfscan_Doublecortin_dom,pfscan_Ricin_B_lectin	p.H239Y	ENST00000597505.1	37	c.715		11	.	.	.	.	.	.	.	.	.	.	G	5.811	0.333851	0.11013	.	.	ENSG00000170959	ENST00000339794	T	0.29142	1.58	5.44	3.46	0.39613	Ricin B-related lectin (1);Ricin B lectin (2);	0.596005	0.14902	N	0.291762	T	0.13543	0.0328	N	0.08118	0	0.18873	N	0.999986	B	0.20052	0.041	B	0.23018	0.043	T	0.24476	-1.0159	10	0.19590	T	0.45	0.0068	4.9563	0.14041	0.0821:0.144:0.6256:0.1483	.	239	Q6ZRR9	DCDC5_HUMAN	Y	239	ENSP00000341700:H239Y	ENSP00000341700:H239Y	H	-	1	0	DCDC5	30893809	0.410000	0.25376	0.714000	0.30535	0.119000	0.20118	1.323000	0.33701	1.261000	0.44149	0.655000	0.94253	CAC	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,pfscan_Ricin_B_lectin		0.443	DCDC1-010	PUTATIVE	basic	protein_coding	DCDC1	protein_coding	OTTHUMT00000463167.1	G	NM_181807	-		30937233	-1	no_errors	ENST00000339794	ensembl	human	known	74_37	missense	SNP	0.544	A
WDR63	126820	genome.wustl.edu	37	1	85555896	85555896	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr1:85555896C>T	ENST00000294664.6	+	8	1018	c.838C>T	c.(838-840)Ctt>Ttt	p.L280F	WDR63_ENST00000370596.1_Intron|WDR63_ENST00000326813.8_Intron	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	280										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		GGTTGATTTTCTTAACAATGC	0.269																																																	0								ENSG00000162643						38.0	40.0	40.0					1																	85555896		2199	4292	6491	WDR63	SO:0001583	missense	0			-	HGNC		CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"""WD repeat domain containing"""	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.838C>T	1.37:g.85555896C>T	ENSP00000294664:p.Leu280Phe	Somatic	0	99	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	58	25.64	A8K988|Q96L72|Q96NU4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.L280F	ENST00000294664.6	37	c.838	CCDS702.1	1	.	.	.	.	.	.	.	.	.	.	C	3.472	-0.107654	0.06924	.	.	ENSG00000162643	ENST00000294664	T	0.45276	0.9	5.6	3.73	0.42828	.	0.514246	0.21736	N	0.069881	T	0.12263	0.0298	L	0.39085	1.19	0.28061	N	0.932953	B	0.12013	0.005	B	0.09377	0.004	T	0.18524	-1.0334	10	0.29301	T	0.29	-20.1337	6.4425	0.21856	0.0:0.6885:0.1497:0.1618	.	280	Q8IWG1	WDR63_HUMAN	F	280	ENSP00000294664:L280F	ENSP00000294664:L280F	L	+	1	0	WDR63	85328484	0.998000	0.40836	0.989000	0.46669	0.075000	0.17131	0.535000	0.23114	0.712000	0.32039	-0.218000	0.12543	CTT	-	NULL		0.269	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR63	protein_coding	OTTHUMT00000027565.2	C	NM_145172	-		85555896	+1	no_errors	ENST00000294664	ensembl	human	known	74_37	missense	SNP	0.999	T
FAM78A	286336	genome.wustl.edu	37	9	134136629	134136629	+	Silent	SNP	G	G	T			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr9:134136629G>T	ENST00000372271.3	-	2	799	c.432C>A	c.(430-432)atC>atA	p.I144I	FAM78A_ENST00000247295.4_5'UTR|FAM78A_ENST00000372269.3_Silent_p.I141I	NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A	144										NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		TGGGGCCCACGATGGTGCAGG	0.602																																																	0								ENSG00000126882						91.0	83.0	86.0					9																	134136629		2203	4300	6503	FAM78A	SO:0001819	synonymous_variant	0			-	HGNC	AK095423	CCDS6941.2	9q34	2008-02-05	2005-07-18	2005-07-18	ENSG00000126882	ENSG00000126882			25465	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 59"""	C9orf59		11214971	Standard	NM_033387		Approved	FLJ00024	uc004cak.3	Q5JUQ0	OTTHUMG00000020821	ENST00000372271.3:c.432C>A	9.37:g.134136629G>T		Somatic	0	25	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38	Q86VQ9|Q9H7P4	Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.I144	ENST00000372271.3	37	c.432	CCDS6941.2	9																																																																																			-	NULL		0.602	FAM78A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM78A	protein_coding	OTTHUMT00000054720.1	G	NM_033387	-		134136629	-1	no_errors	ENST00000372271	ensembl	human	known	74_37	silent	SNP	0.986	T
USP44	84101	genome.wustl.edu	37	12	95927128	95927128	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr12:95927128delA	ENST00000258499.3	-	2	1193	c.905delT	c.(904-906)ttafs	p.L302fs	USP44_ENST00000552440.1_Frame_Shift_Del_p.L302fs|USP44_ENST00000537435.2_Frame_Shift_Del_p.L302fs|USP44_ENST00000393091.2_Frame_Shift_Del_p.L302fs	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	302	USP.				mitotic nuclear division (GO:0007067)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deubiquitination (GO:0016579)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|regulation of spindle checkpoint (GO:0090231)	nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						ATCAAGCTTTAAAAAACATTG	0.368																																																	0								ENSG00000136014						56.0	58.0	57.0					12																	95927128		2203	4300	6503	USP44	SO:0001589	frameshift_variant	0				HGNC	AK027434	CCDS9053.1	12q21.33	2005-08-08	2005-08-08			ENSG00000136014		"""Ubiquitin-specific peptidases"""	20064	protein-coding gene	gene with protein product		610993	"""ubiquitin specific protease 44"""			12838346	Standard	NM_001278393		Approved	FLJ14528	uc001teg.3	Q9H0E7		ENST00000258499.3:c.905delT	12.37:g.95927128delA	ENSP00000258499:p.Leu302fs	Somatic	0	36	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	23	20.69	B2RDW3	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67	p.L302fs	ENST00000258499.3	37	c.905	CCDS9053.1	12																																																																																			-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67		0.368	USP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP44	protein_coding	OTTHUMT00000408312.1	A	NM_032147			95927128	-1	no_errors	ENST00000258499	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-
OR3A2	4995	genome.wustl.edu	37	17	3181471	3181471	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr17:3181471G>T	ENST00000408891.2	-	1	797	c.759C>A	c.(757-759)caC>caA	p.H253Q	RP11-64J4.2_ENST00000573491.1_RNA	NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	253					sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|receptor activity (GO:0004872)			ovary(1)	1						CCACGGTGAGGTGGGAGCCAC	0.512																																					GBM(166;478 2018 3875 5042 31983)|Esophageal Squamous(77;407 1232 1405 14297 15272)												0								ENSG00000221882						57.0	61.0	60.0					17																	3181471		2201	4298	6499	OR3A2	SO:0001583	missense	0			-	HGNC	U04713	CCDS42233.1	17p13.3	2012-08-09				ENSG00000221882		"""GPCR / Class A : Olfactory receptors"""	8283	protein-coding gene	gene with protein product						8921386, 10673334	Standard	NM_002551		Approved	OLFRA04, OR228, OR17-228	uc002fvg.3	P47893		ENST00000408891.2:c.759C>A	17.37:g.3181471G>T	ENSP00000386180:p.His253Gln	Somatic	0	31	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	17	19.05	Q6IFM3|Q9P1Q3	Missense_Mutation	SNP	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.H253Q	ENST00000408891.2	37	c.759	CCDS42233.1	17	.	.	.	.	.	.	.	.	.	.	G	13.78	2.338298	0.41398	.	.	ENSG00000221882	ENST00000408891	T	0.00307	8.17	4.9	-1.02	0.10135	GPCR, rhodopsin-like superfamily (1);	0.000000	0.45606	D	0.000358	T	0.00875	0.0029	H	0.96943	3.91	0.29999	N	0.816155	D	0.89917	1.0	D	0.97110	1.0	T	0.10382	-1.0632	10	0.87932	D	0	-20.713	9.3016	0.37849	0.4895:0.0:0.5105:0.0	.	253	P47893	OR3A2_HUMAN	Q	253	ENSP00000386180:H253Q	ENSP00000386180:H253Q	H	-	3	2	OR3A2	3128221	0.934000	0.31675	0.995000	0.50966	0.219000	0.24729	0.035000	0.13797	-0.168000	0.10853	0.561000	0.74099	CAC	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.512	OR3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR3A2	protein_coding	OTTHUMT00000438370.1	G		-		3181471	-1	no_errors	ENST00000408891	ensembl	human	known	74_37	missense	SNP	0.999	T
LAMTOR1	55004	genome.wustl.edu	37	11	71809346	71809346	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr11:71809346C>T	ENST00000278671.5	-	4	544	c.382G>A	c.(382-384)Gat>Aat	p.D128N	LRTOMT_ENST00000419228.1_Intron|LRTOMT_ENST00000435085.1_Intron|LAMTOR1_ENST00000535107.1_Intron|LRTOMT_ENST00000439209.1_Intron|LRTOMT_ENST00000307198.7_Intron|LAMTOR1_ENST00000545249.1_Missense_Mutation_p.D128N|LAMTOR1_ENST00000539797.1_5'UTR|LAMTOR1_ENST00000538404.1_Missense_Mutation_p.D128N	NM_017907.2	NP_060377.1	Q6IAA8	LTOR1_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 1	128	Interaction with LAMTOR2 and LAMTOR3. {ECO:0000250}.				cell growth (GO:0016049)|cellular protein localization (GO:0034613)|cellular response to amino acid stimulus (GO:0071230)|cholesterol homeostasis (GO:0042632)|endosome localization (GO:0032439)|endosome organization (GO:0007032)|lysosome localization (GO:0032418)|lysosome organization (GO:0007040)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of TOR signaling (GO:0032008)|regulation of cholesterol efflux (GO:0010874)|regulation of cholesterol esterification (GO:0010872)|regulation of cholesterol import (GO:0060620)|regulation of receptor recycling (GO:0001919)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|late endosome membrane (GO:0031902)|lysosome (GO:0005764)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|Ragulator complex (GO:0071986)				cervix(1)	1						TGCTGCAAATCAGAGAACGGG	0.622																																																	0								ENSG00000149357						53.0	50.0	51.0					11																	71809346		2200	4293	6493	LAMTOR1	SO:0001583	missense	0			-	HGNC	AK000632	CCDS8209.1	11q13.4	2011-05-18	2011-02-15	2011-02-15	ENSG00000149357	ENSG00000149357			26068	protein-coding gene	gene with protein product	"""p27kip1 releasing factor from RhoA"", ""protein associated with DRMs and endosomes"""	613510	"""chromosome 11 open reading frame 59"""	C11orf59		12358155	Standard	NM_017907		Approved	FLJ20625, p18, p27RF-Rho, Pdro, Ragulator1	uc001ort.3	Q6IAA8	OTTHUMG00000167869	ENST00000278671.5:c.382G>A	11.37:g.71809346C>T	ENSP00000278671:p.Asp128Asn	Somatic	0	36	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	16	36.00	Q8WZ09|Q9NWT0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.D128N	ENST00000278671.5	37	c.382	CCDS8209.1	11	.	.	.	.	.	.	.	.	.	.	C	19.82	3.897981	0.72639	.	.	ENSG00000149357	ENST00000545249;ENST00000278671;ENST00000538404	T;T;T	0.61158	0.23;0.57;0.13	5.67	4.76	0.60689	.	0.109244	0.64402	N	0.000011	T	0.66906	0.2837	L	0.60455	1.87	0.80722	D	1	B;D	0.56521	0.197;0.976	B;P	0.56398	0.119;0.797	T	0.68372	-0.5426	10	0.48119	T	0.1	.	14.172	0.65514	0.0:0.9271:0.0:0.0729	.	128;128	F5H3Y3;Q6IAA8	.;LTOR1_HUMAN	N	128	ENSP00000440738:D128N;ENSP00000278671:D128N;ENSP00000439011:D128N	ENSP00000278671:D128N	D	-	1	0	LAMTOR1	71486994	1.000000	0.71417	1.000000	0.80357	0.616000	0.37450	6.991000	0.76232	1.398000	0.46701	0.563000	0.77884	GAT	-	NULL		0.622	LAMTOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMTOR1	protein_coding	OTTHUMT00000396733.1	C	NM_017907	-		71809346	-1	no_errors	ENST00000278671	ensembl	human	known	74_37	missense	SNP	1.000	T
IPO5	3843	genome.wustl.edu	37	13	98671881	98671881	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr13:98671881G>T	ENST00000490680.1	+	24	2948	c.2883G>T	c.(2881-2883)aaG>aaT	p.K961N	IPO5_ENST00000539640.1_Missense_Mutation_p.K836N|IPO5_ENST00000261574.5_Missense_Mutation_p.K979N			O00410	IPO5_HUMAN	importin 5	961					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						CGGATTCTAAGACCAAAGAAA	0.403																																																	0								ENSG00000065150						106.0	98.0	101.0					13																	98671881		2203	4300	6503	IPO5	SO:0001583	missense	0			-	HGNC	U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"""Importins"""	6402	protein-coding gene	gene with protein product		602008	"""karyopherin (importin) beta 3"", ""RAN binding protein 5"""	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.2883G>T	13.37:g.98671881G>T	ENSP00000418393:p.Lys961Asn	Somatic	0	49	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	21	12.50	B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_HEAT,superfamily_ARM-type_fold,pfscan_Importin-beta_N	p.K979N	ENST00000490680.1	37	c.2937		13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.20|19.20	3.781209|3.781209	0.70222|0.70222	.|.	.|.	ENSG00000065150|ENSG00000065150	ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640|ENST00000469360	T;T;T;T|.	0.12147|.	2.71;2.71;2.71;2.71|.	5.95|5.95	5.0|5.0	0.66597|0.66597	.|.	0.144445|.	0.64402|.	D|.	0.000008|.	T|T	0.59238|0.59238	0.2179|0.2179	M|M	0.64404|0.64404	1.975|1.975	0.44030|0.44030	D|D	0.996751|0.996751	P|.	0.36048|.	0.534|.	P|.	0.47528|.	0.549|.	T|T	0.60806|0.60806	-0.7190|-0.7190	10|5	0.87932|.	D|.	0|.	-5.1267|-5.1267	3.9665|3.9665	0.09434|0.09434	0.3151:0.0:0.6849:0.0|0.3151:0.0:0.6849:0.0	.|.	979|.	O00410-3|.	.|.	N|I	979;961;961;836|963	ENSP00000261574:K979N;ENSP00000350219:K961N;ENSP00000418393:K961N;ENSP00000445126:K836N|.	ENSP00000261574:K979N|.	K|R	+|+	3|2	2|0	IPO5|IPO5	97469882|97469882	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	3.332000|3.332000	0.52083|0.52083	2.821000|2.821000	0.97095|0.97095	0.650000|0.650000	0.86243|0.86243	AAG|AGA	-	superfamily_ARM-type_fold		0.403	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	IPO5	protein_coding	OTTHUMT00000354655.1	G	NM_002271	-		98671881	+1	no_errors	ENST00000261574	ensembl	human	known	74_37	missense	SNP	1.000	T
PDE1C	5137	genome.wustl.edu	37	7	31864525	31864525	+	Silent	SNP	G	G	A	rs564932801		TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr7:31864525G>A	ENST00000396191.1	-	13	1817	c.1362C>T	c.(1360-1362)atC>atT	p.I454I	PDE1C_ENST00000321453.7_Silent_p.I454I|PDE1C_ENST00000396193.1_Silent_p.I514I|PDE1C_ENST00000396182.2_Silent_p.I454I|PDE1C_ENST00000396184.3_Silent_p.I454I	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	454	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	AGGTTTCATCGATTAATGGAC	0.498													G|||	1	0.000199681	0.0	0.0	5008	,	,		20028	0.0		0.0	False		,,,				2504	0.001																0								ENSG00000154678						185.0	155.0	165.0					7																	31864525		2203	4300	6503	PDE1C	SO:0001819	synonymous_variant	0			-	HGNC	U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.1362C>T	7.37:g.31864525G>A		Somatic	0	56	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	15	55.88	B3KPC6|E9PE92|Q14124|Q8NB10	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase	p.I454	ENST00000396191.1	37	c.1362	CCDS55099.1	7																																																																																			-	pfam_PDEase_catalytic_dom		0.498	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	PDE1C	protein_coding	OTTHUMT00000328458.1	G		-		31864525	-1	no_errors	ENST00000321453	ensembl	human	known	74_37	silent	SNP	0.834	A
SNX32	254122	genome.wustl.edu	37	11	65620753	65620753	+	Splice_Site	SNP	G	G	A			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr11:65620753G>A	ENST00000308342.6	+	13	1584	c.1159G>A	c.(1159-1161)Gcc>Acc	p.A387T		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	387					intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		TCCTCTGCAGGCCAGCACCCT	0.582																																																	0								ENSG00000172803						112.0	114.0	113.0					11																	65620753		2201	4297	6498	SNX32	SO:0001630	splice_region_variant	0			-	HGNC	AK055496	CCDS8113.2	11q13.1	2008-03-11	2008-03-11	2008-03-11	ENSG00000172803	ENSG00000172803		"""Sorting nexins"""	26423	protein-coding gene	gene with protein product			"""sorting nexin 6B"""	SNX6B		16782399	Standard	XM_005273871		Approved	FLJ30934	uc001ofr.3	Q86XE0	OTTHUMG00000128491	ENST00000308342.6:c.1159-1G>A	11.37:g.65620753G>A		Somatic	0	25	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	21	16.00	Q8IW53|Q96NG4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Vps5_C,pfam_Phox,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox	p.A387T	ENST00000308342.6	37	c.1159	CCDS8113.2	11	.	.	.	.	.	.	.	.	.	.	G	10.45	1.353664	0.24512	.	.	ENSG00000172803	ENST00000308342	T	0.18502	2.21	4.46	0.876	0.19138	.	0.517985	0.16159	N	0.226888	T	0.10508	0.0257	L	0.31664	0.95	0.33761	D	0.621882	B	0.22346	0.068	B	0.22386	0.039	T	0.27640	-1.0068	9	.	.	.	-9.0848	6.7964	0.23727	0.3324:0.0:0.6676:0.0	.	387	Q86XE0	SNX32_HUMAN	T	387	ENSP00000310620:A387T	.	A	+	1	0	SNX32	65377329	1.000000	0.71417	0.986000	0.45419	0.845000	0.48019	1.265000	0.33027	-0.007000	0.14345	-0.258000	0.10820	GCC	-	pfam_Vps5_C,pirsf_Snx5_Snx6		0.582	SNX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX32	protein_coding	OTTHUMT00000250295.3	G	NM_152760	-	Missense_Mutation	65620753	+1	no_errors	ENST00000308342	ensembl	human	known	74_37	missense	SNP	1.000	A
ATXN1	6310	genome.wustl.edu	37	6	16327921	16327921	+	Missense_Mutation	SNP	C	C	A	rs201030692		TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr6:16327921C>A	ENST00000244769.4	-	8	1557	c.621G>T	c.(619-621)caG>caT	p.Q207H	ATXN1_ENST00000436367.1_Missense_Mutation_p.Q207H	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	207	Poly-Gln.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)	p.Q207H(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gctgatgctgctgctgctgct	0.662																																																	2	Substitution - Missense(2)	lung(1)|prostate(1)						ENSG00000124788						5.0	8.0	7.0					6																	16327921		1605	3502	5107	ATXN1	SO:0001583	missense	0			-	HGNC	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.621G>T	6.37:g.16327921C>A	ENSP00000244769:p.Gln207His	Somatic	0	22	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	21	16.00	Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1	p.Q207H	ENST00000244769.4	37	c.621	CCDS34342.1	6	.	.	.	.	.	.	.	.	.	.	c	0.699	-0.791581	0.02884	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.56275	0.47;0.47	0.0465	-0.093	0.13652	.	.	.	.	.	T	0.07908	0.0198	N	0.08118	0	0.09310	N	1	D	0.54964	0.969	B	0.38106	0.265	T	0.21042	-1.0257	8	0.35671	T	0.21	.	.	.	.	.	207	P54253	ATX1_HUMAN	H	207	ENSP00000244769:Q207H;ENSP00000416360:Q207H	ENSP00000244769:Q207H	Q	-	3	2	ATXN1	16435900	0.128000	0.22383	0.017000	0.16124	0.068000	0.16541	-0.076000	0.11412	-1.412000	0.02030	-1.404000	0.01136	CAG	-	NULL		0.662	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN1	protein_coding	OTTHUMT00000039943.3	C	NM_000332	rs201030692		16327921	-1	no_errors	ENST00000244769	ensembl	human	known	74_37	missense	SNP	0.022	A
MYH11	4629	genome.wustl.edu	37	16	15832545	15832545	+	Splice_Site	SNP	C	C	G			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr16:15832545C>G	ENST00000300036.5	-	24	3107	c.2998G>C	c.(2998-3000)Gaa>Caa	p.E1000Q	MYH11_ENST00000396324.3_Splice_Site_p.E1007Q|MYH11_ENST00000576790.2_Splice_Site_p.E1000Q|AF001548.6_ENST00000577048.1_RNA|MYH11_ENST00000452625.2_Splice_Site_p.E1007Q	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1000					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						AGTTTTCGTTCCTTTTTGGGG	0.353			T	CBFB	AML																																			Dom	yes		16	16p13.13-p13.12	4629	"""myosin, heavy polypeptide 11, smooth muscle"""		L	0								ENSG00000133392						113.0	106.0	108.0					16																	15832545		2197	4300	6497	MYH11	SO:0001630	splice_region_variant	0			-	HGNC	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.2998-1G>C	16.37:g.15832545C>G		Somatic	0	88	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	47	31.88	D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.E1007Q	ENST00000300036.5	37	c.3019	CCDS10565.1	16	.	.	.	.	.	.	.	.	.	.	C	16.90	3.249919	0.59212	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.85484	-1.99;-1.99;-1.99;-1.99	4.3	4.3	0.51218	.	0.117593	0.56097	D	0.000029	D	0.90246	0.6950	M	0.93283	3.4	0.80722	D	1	B;B;B;B;B	0.24882	0.113;0.008;0.008;0.008;0.003	B;B;B;B;B	0.33454	0.164;0.063;0.105;0.063;0.03	D	0.91133	0.4939	10	0.87932	D	0	.	16.1203	0.81346	0.0:1.0:0.0:0.0	.	1007;1000;1007;1000;1007	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	Q	1000;1000;1007;1007;1007	ENSP00000300036:E1000Q;ENSP00000345136:E1000Q;ENSP00000379616:E1007Q;ENSP00000407821:E1007Q	ENSP00000300036:E1000Q	E	-	1	0	MYH11	15740046	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	7.587000	0.82613	2.117000	0.64856	0.555000	0.69702	GAA	-	superfamily_Prefoldin		0.353	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH11	protein_coding	OTTHUMT00000252192.2	C	NM_001040113	-	Missense_Mutation	15832545	-1	no_errors	ENST00000396324	ensembl	human	known	74_37	missense	SNP	1.000	G
AIM1	202	genome.wustl.edu	37	6	106968274	106968274	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr6:106968274G>A	ENST00000369066.3	+	2	2454	c.1967G>A	c.(1966-1968)gGa>gAa	p.G656E		NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CCCAGCAGCGGAAATCACTTA	0.517																																																	0								ENSG00000112297						51.0	49.0	50.0					6																	106968274		2203	4300	6503	AIM1	SO:0001583	missense	0			-	HGNC	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.1967G>A	6.37:g.106968274G>A	ENSP00000358062:p.Gly656Glu	Somatic	0	21	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	19	29.63	Q6P2P0|Q9BTM3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.G656E	ENST00000369066.3	37	c.1967	CCDS34506.1	6	.	.	.	.	.	.	.	.	.	.	G	10.33	1.319058	0.23994	.	.	ENSG00000112297	ENST00000285105;ENST00000369066	T	0.70282	-0.47	5.45	3.34	0.38264	.	1.007710	0.07983	N	0.985969	T	0.30510	0.0767	L	0.29908	0.895	0.09310	N	0.999994	B	0.20261	0.043	B	0.19946	0.027	T	0.31888	-0.9927	10	0.02654	T	1	.	8.5241	0.33293	0.205:0.0:0.795:0.0	.	656	Q9Y4K1	AIM1_HUMAN	E	1064;656	ENSP00000358062:G656E	ENSP00000285105:G1064E	G	+	2	0	AIM1	107074967	0.000000	0.05858	0.003000	0.11579	0.031000	0.12232	0.040000	0.13905	1.309000	0.44985	0.655000	0.94253	GGA	-	NULL		0.517	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIM1	protein_coding	OTTHUMT00000041669.1	G		-		106968274	+1	no_errors	ENST00000369066	ensembl	human	known	74_37	missense	SNP	0.001	A
CSPG5	10675	genome.wustl.edu	37	3	47610660	47610660	+	Silent	SNP	G	G	A			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr3:47610660G>A	ENST00000383738.2	-	4	3538	c.1440C>T	c.(1438-1440)gcC>gcT	p.A480A	CSPG5_ENST00000456150.1_Silent_p.A342A|CSPG5_ENST00000264723.4_Silent_p.A480A	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	480					axon regeneration (GO:0031103)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)|regulation of growth (GO:0040008)|regulation of synaptic transmission (GO:0050804)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GAGAGCCCTCGGCAATGGTGG	0.498																																																	0								ENSG00000114646						141.0	120.0	127.0					3																	47610660		2203	4300	6503	CSPG5	SO:0001819	synonymous_variant	0			-	HGNC	AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646			2467	protein-coding gene	gene with protein product		606775				9950058	Standard	NM_006574		Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.1440C>T	3.37:g.47610660G>A		Somatic	0	90	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	13	70.45	Q71M39|Q71M40	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Chon_Sulph_att,pfam_Neural_ProG_Cyt	p.A480	ENST00000383738.2	37	c.1440	CCDS56253.1	3																																																																																			-	pfam_Neural_ProG_Cyt		0.498	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSPG5	protein_coding	OTTHUMT00000257489.1	G	NM_006574	-		47610660	-1	no_errors	ENST00000383738	ensembl	human	known	74_37	silent	SNP	0.959	A
EBPL	84650	genome.wustl.edu	37	13	50237243	50237243	+	Silent	SNP	C	C	A			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr13:50237243C>A	ENST00000242827.6	-	3	380	c.330G>T	c.(328-330)ggG>ggT	p.G110G	EBPL_ENST00000495963.2_5'UTR|EBPL_ENST00000378272.5_Intron|EBPL_ENST00000378270.5_Intron|EBPL_ENST00000378284.2_Silent_p.G110G|EBPL_ENST00000378282.5_Silent_p.G104G	NM_032565.3	NP_115954.1	Q9BY08	EBPL_HUMAN	emopamil binding protein-like	110					sterol metabolic process (GO:0016125)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cholestenol delta-isomerase activity (GO:0047750)			endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		ATGCCAGAGACCCATCCAGGG	0.443																																					NSCLC(39;857 1083 36109 42364 51411)												0								ENSG00000123179						108.0	95.0	99.0					13																	50237243		2203	4300	6503	EBPL	SO:0001819	synonymous_variant	0			-	HGNC	AF243433	CCDS9420.1, CCDS61334.1	13q12-q13	2008-02-05			ENSG00000123179	ENSG00000123179			18061	protein-coding gene	gene with protein product							Standard	NM_032565		Approved	EBRP	uc001vdg.3	Q9BY08	OTTHUMG00000016920	ENST00000242827.6:c.330G>T	13.37:g.50237243C>A		Somatic	0	79	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	16	15.79	A6NJ59|Q569H7|Q5JVN2|Q5JVN3|Q5JVN4|Q5JVN5|Q5JVN6	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_EBP	p.G110	ENST00000242827.6	37	c.330	CCDS9420.1	13																																																																																			-	pfam_EBP		0.443	EBPL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EBPL	protein_coding	OTTHUMT00000044932.2	C	NM_032565	-		50237243	-1	no_errors	ENST00000242827	ensembl	human	known	74_37	silent	SNP	0.036	A
PCDHA7	56141	genome.wustl.edu	37	5	140214124	140214124	+	Silent	SNP	G	G	A			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr5:140214124G>A	ENST00000525929.1	+	1	156	c.156G>A	c.(154-156)ctG>ctA	p.L52L	PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.L52L|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	52	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAGGACCTGGGGCTGGAGC	0.602																																					NSCLC(160;258 2013 5070 22440 28951)												0								ENSG00000204963						61.0	76.0	71.0					5																	140214124		2203	4300	6503	PCDHA7	SO:0001819	synonymous_variant	0			-	HGNC	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.156G>A	5.37:g.140214124G>A		Somatic	0	100	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	48	30.43	O75282	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.L52	ENST00000525929.1	37	c.156	CCDS54918.1	5																																																																																			-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin		0.602	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA7	protein_coding	OTTHUMT00000372887.2	G	NM_018910	-		140214124	+1	no_errors	ENST00000525929	ensembl	human	known	74_37	silent	SNP	0.998	A
CSDC2	27254	genome.wustl.edu	37	22	41969680	41969680	+	Silent	SNP	C	C	T	rs369315006		TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr22:41969680C>T	ENST00000306149.7	+	3	742	c.198C>T	c.(196-198)ggC>ggT	p.G66G		NM_014460.3	NP_055275.1	Q9Y534	CSDC2_HUMAN	cold shock domain containing C2, RNA binding	66					mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			prostate(2)|upper_aerodigestive_tract(1)	3						CCTCAGCTGGCCCCGTGTTCA	0.607																																					NSCLC(181;294 2110 12667 14717 31090)												0								ENSG00000172346						93.0	82.0	86.0					22																	41969680		2203	4300	6503	CSDC2	SO:0001819	synonymous_variant	0			-	HGNC	AL834417	CCDS14019.1	22q13.2	2006-02-24			ENSG00000172346	ENSG00000172346			30359	protein-coding gene	gene with protein product						8573167, 12767259	Standard	NM_014460		Approved	PIPPin	uc003bak.1	Q9Y534	OTTHUMG00000150967	ENST00000306149.7:c.198C>T	22.37:g.41969680C>T		Somatic	0	41	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	Q8ND37	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot	p.G66	ENST00000306149.7	37	c.198	CCDS14019.1	22																																																																																			-	superfamily_NA-bd_OB-fold		0.607	CSDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSDC2	protein_coding	OTTHUMT00000320689.1	C	NM_014460	-		41969680	+1	no_errors	ENST00000306149	ensembl	human	known	74_37	silent	SNP	0.990	T
CDH4	1002	genome.wustl.edu	37	20	60511837	60511837	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr20:60511837G>T	ENST00000360469.5	+	16	2675	c.2587G>T	c.(2587-2589)Gac>Tac	p.D863Y	CDH4_ENST00000543233.1_Missense_Mutation_p.D789Y	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	863					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			ACCCCCCTATGACTCCCTGCT	0.632																																																	0								ENSG00000179242						45.0	44.0	44.0					20																	60511837		2202	4300	6502	CDH4	SO:0001583	missense	0			-	HGNC	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.2587G>T	20.37:g.60511837G>T	ENSP00000353656:p.Asp863Tyr	Somatic	0	39	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	15	42.31	B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin	p.D863Y	ENST00000360469.5	37	c.2587	CCDS13488.1	20	.	.	.	.	.	.	.	.	.	.	G	20.6	4.010290	0.75046	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	D;D	0.89681	-2.55;-2.55	4.49	4.49	0.54785	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.96355	0.8811	H	0.95917	3.74	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98041	1.0382	9	.	.	.	.	17.1925	0.86883	0.0:0.0:1.0:0.0	.	863	P55283	CADH4_HUMAN	Y	863;771;789	ENSP00000353656:D863Y;ENSP00000443301:D789Y	.	D	+	1	0	CDH4	59945232	1.000000	0.71417	0.985000	0.45067	0.510000	0.34073	9.580000	0.98207	2.068000	0.61886	0.467000	0.42956	GAC	-	pfam_Cadherin_cytoplasmic-dom		0.632	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH4	protein_coding	OTTHUMT00000079965.2	G	NM_001794	-		60511837	+1	no_errors	ENST00000360469	ensembl	human	known	74_37	missense	SNP	1.000	T
MUC21	394263	genome.wustl.edu	37	6	30954828	30954828	+	Silent	SNP	A	A	C	rs41318569		TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr6:30954828A>C	ENST00000376296.3	+	2	1117	c.876A>C	c.(874-876)acA>acC	p.T292T	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	292	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						AGTCCAGCACACCCTCCAGTG	0.602																																																	0								ENSG00000204544						199.0	191.0	193.0					6																	30954828		2203	4300	6503	MUC21	SO:0001819	synonymous_variant	0			-	HGNC	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"""Mucins"""	21661	protein-coding gene	gene with protein product	"""epiglycanin"""		"""chromosome 6 open reading frame 205"""	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.876A>C	6.37:g.30954828A>C		Somatic	0	63	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	24	35.14	B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.T292	ENST00000376296.3	37	c.876	CCDS34388.1	6																																																																																			-	NULL		0.602	MUC21-001	KNOWN	basic|CCDS	protein_coding	MUC21	protein_coding	OTTHUMT00000128579.3	A	NM_001010909	-		30954828	+1	no_errors	ENST00000376296	ensembl	human	known	74_37	silent	SNP	0.000	C
KRTAP9-9	81870	genome.wustl.edu	37	17	39411670	39411670	+	Silent	SNP	T	T	C	rs540633489	byFrequency	TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr17:39411670T>C	ENST00000394008.1	+	1	35	c.33T>C	c.(31-33)ccT>ccC	p.P11P		NM_030975.2	NP_112237.2	Q9BYP9	KRA99_HUMAN	keratin associated protein 9-9	11	14 X 5 AA repeats of C-C-[RQVGE]- [SPSTNQ]-[TASL].					keratin filament (GO:0045095)				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GCTGTCAGCCTACCTGCTGCA	0.602																																																	0								ENSG00000198083																																			KRTAP9-9	SO:0001819	synonymous_variant	0			-	HGNC	AJ406951	CCDS54127.1	17q21.2	2010-06-03			ENSG00000198083	ENSG00000198083		"""Keratin associated proteins"""	16773	protein-coding gene	gene with protein product			"""keratin associated protein 9-5"""	KRTAP9-5		11279113	Standard	NM_030975		Approved	KAP9.9, KAP9.5	uc021txh.1	Q9BYP9	OTTHUMG00000133602	ENST00000394008.1:c.33T>C	17.37:g.39411670T>C		Somatic	0	37	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	B5MDD6|Q9BYQ1	Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.P11	ENST00000394008.1	37	c.33	CCDS54127.1	17																																																																																			-	NULL		0.602	KRTAP9-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP9-9	protein_coding	OTTHUMT00000257710.1	T	NM_030975	-		39411670	+1	no_errors	ENST00000394008	ensembl	human	known	74_37	silent	SNP	0.053	C
ALPL	249	genome.wustl.edu	37	1	21903986	21903986	+	Missense_Mutation	SNP	G	G	C	rs376354718		TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr1:21903986G>C	ENST00000374840.3	+	12	1670	c.1420G>C	c.(1420-1422)Gtc>Ctc	p.V474L	ALPL_ENST00000425315.2_Missense_Mutation_p.V474L|ALPL_ENST00000374830.1_Missense_Mutation_p.V120L|ALPL_ENST00000374829.1_Missense_Mutation_p.V120L|ALPL_ENST00000540617.1_Missense_Mutation_p.V419L|ALPL_ENST00000374832.1_Missense_Mutation_p.V474L|ALPL_ENST00000539907.1_Missense_Mutation_p.V397L	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	474					cellular response to organic cyclic compound (GO:0071407)|cementum mineralization (GO:0071529)|developmental process involved in reproduction (GO:0003006)|endochondral ossification (GO:0001958)|osteoblast differentiation (GO:0001649)|response to antibiotic (GO:0046677)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)	anchored component of membrane (GO:0031225)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)|Fospropofol(DB06716)	GCTGCACGGCGTCCACGAGCA	0.692																																																	0								ENSG00000162551						53.0	48.0	50.0					1																	21903986		2203	4299	6502	ALPL	SO:0001583	missense	0			-	HGNC	BC021289	CCDS217.1, CCDS53274.1, CCDS53275.1	1p36.12	2008-02-05			ENSG00000162551	ENSG00000162551	3.1.3.1		438	protein-coding gene	gene with protein product		171760		HOPS		3532105, 3446011	Standard	NM_001127501		Approved	TNSALP	uc001bet.3	P05186	OTTHUMG00000002949	ENST00000374840.3:c.1420G>C	1.37:g.21903986G>C	ENSP00000363973:p.Val474Leu	Somatic	0	65	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	31	38.00	A1A4E7|B2RMP8|B7Z387|B7Z4Y6|O75090|Q2TAI7|Q59EJ7|Q5BKZ5|Q5VTG5|Q6NZI8|Q8WU32|Q9UBK0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase	p.V474L	ENST00000374840.3	37	c.1420	CCDS217.1	1	.	.	.	.	.	.	.	.	.	.	g	17.02	3.281989	0.59867	.	.	ENSG00000162551	ENST00000539907;ENST00000540617;ENST00000374840;ENST00000374832;ENST00000425315;ENST00000374830;ENST00000374829	D;D;D;D;D;D;D	0.95980	-3.87;-3.87;-3.87;-3.87;-3.87;-3.87;-3.87	4.91	4.0	0.46444	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.95010	0.8385	L	0.60845	1.875	0.51233	D	0.999915	B;P;P	0.48350	0.404;0.909;0.84	B;P;B	0.51385	0.385;0.668;0.422	D	0.93948	0.7229	10	0.48119	T	0.1	-44.3759	10.5861	0.45284	0.093:0.0:0.907:0.0	.	397;422;474	B7Z387;B7Z1D1;P05186	.;.;PPBT_HUMAN	L	397;419;474;474;474;120;120	ENSP00000437674:V397L;ENSP00000442672:V419L;ENSP00000363973:V474L;ENSP00000363965:V474L;ENSP00000394765:V474L;ENSP00000363963:V120L;ENSP00000363962:V120L	ENSP00000363962:V120L	V	+	1	0	ALPL	21776573	1.000000	0.71417	0.996000	0.52242	0.908000	0.53690	9.204000	0.95041	1.306000	0.44926	0.556000	0.70494	GTC	-	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase		0.692	ALPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALPL	protein_coding	OTTHUMT00000008202.1	G	NM_000478	-		21903986	+1	no_errors	ENST00000374832	ensembl	human	known	74_37	missense	SNP	1.000	C
ARHGEF12	23365	genome.wustl.edu	37	11	120347386	120347386	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr11:120347386C>A	ENST00000397843.2	+	34	3460	c.3294C>A	c.(3292-3294)ttC>ttA	p.F1098L	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.F995L|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.F1079L	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1098	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		AAGCTTTATTCGTCATTTCCA	0.398			T	MLL	AML																																			Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	0								ENSG00000196914						111.0	105.0	107.0					11																	120347386		1854	4098	5952	ARHGEF12	SO:0001583	missense	0			-	HGNC	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.3294C>A	11.37:g.120347386C>A	ENSP00000380942:p.Phe1098Leu	Somatic	0	42	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	O15086|Q6P526	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_RGS-like_dom,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.F1079L	ENST00000397843.2	37	c.3237	CCDS41727.1	11	.	.	.	.	.	.	.	.	.	.	C	22.4	4.284933	0.80803	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.64260	-0.09;-0.09;-0.09	5.1	-3.93	0.04143	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.41396	U	0.000897	T	0.77143	0.4087	M	0.87827	2.91	0.58432	D	0.999999	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.91635	0.929;0.999;0.997	T	0.79468	-0.1791	10	0.87932	D	0	-11.3145	13.0064	0.58707	0.0:0.3549:0.0:0.6451	.	995;1079;1098	B4DGW2;Q9NZN5-2;Q9NZN5	.;.;ARHGC_HUMAN	L	1098;1079;995	ENSP00000380942:F1098L;ENSP00000349056:F1079L;ENSP00000432984:F995L	ENSP00000349056:F1079L	F	+	3	2	ARHGEF12	119852596	0.012000	0.17670	0.978000	0.43139	0.991000	0.79684	-1.265000	0.02844	-0.585000	0.05905	0.563000	0.77884	TTC	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.398	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ARHGEF12	protein_coding	OTTHUMT00000388052.1	C	NM_015313	-		120347386	+1	no_errors	ENST00000356641	ensembl	human	known	74_37	missense	SNP	0.893	A
KRT1	3848	genome.wustl.edu	37	12	53069193	53069193	+	Silent	SNP	G	G	A			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr12:53069193G>A	ENST00000252244.3	-	9	1777	c.1719C>T	c.(1717-1719)ggC>ggT	p.G573G		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	573	Gly/Ser-rich.|Tail.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						tgccatggccgccgccgccac	0.741																																																	0								ENSG00000167768						4.0	5.0	5.0					12																	53069193		1750	3531	5281	KRT1	SO:0001819	synonymous_variant	0			-	HGNC	X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1719C>T	12.37:g.53069193G>A		Somatic	0	43	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	24	33.33	B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.G573	ENST00000252244.3	37	c.1719	CCDS8836.1	12																																																																																			-	NULL		0.741	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT1	protein_coding	OTTHUMT00000405706.1	G	NM_006121	-		53069193	-1	no_errors	ENST00000252244	ensembl	human	known	74_37	silent	SNP	0.811	A
SOBP	55084	genome.wustl.edu	37	6	107956280	107956282	+	In_Frame_Del	DEL	GCC	GCC	-	rs541688197	byFrequency	TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	GCC	GCC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr6:107956280_107956282delGCC	ENST00000317357.5	+	6	2891_2893	c.2232_2234delGCC	c.(2230-2235)cagccg>cag	p.P751del	SOBP_ENST00000494935.1_3'UTR	NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		CTCCCGAGCAgccgccgccgccg	0.749																																																	0								ENSG00000112320																																			SOBP	SO:0001651	inframe_deletion	0				HGNC	AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.2232_2234delGCC	6.37:g.107956289_107956291delGCC	ENSP00000318900:p.Pro751del	Somatic	0	32	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	24	11.11		In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	NULL	p.P748in_frame_del	ENST00000317357.5	37	c.2232_2234	CCDS43488.1	6																																																																																			-	NULL		0.749	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOBP	protein_coding	OTTHUMT00000041693.2	GCC	NM_018013			107956282	+1	no_errors	ENST00000317357	ensembl	human	known	74_37	in_frame_del	DEL	0.125:0.067:0.048	-
TCF20	6942	genome.wustl.edu	37	22	42606945	42606945	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr22:42606945G>T	ENST00000359486.3	-	1	4503	c.4367C>A	c.(4366-4368)gCc>gAc	p.A1456D	TCF20_ENST00000335626.4_Missense_Mutation_p.A1456D|TCF20_ENST00000404876.1_5'Flank	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1456					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TTCCTTTCCGGCAGTAACTGT	0.522																																																	0								ENSG00000100207						127.0	121.0	123.0					22																	42606945		2203	4300	6503	TCF20	SO:0001583	missense	0			-	HGNC	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.4367C>A	22.37:g.42606945G>T	ENSP00000352463:p.Ala1456Asp	Somatic	0	34	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	18	18.18	A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	smart_Znf_PHD	p.A1456D	ENST00000359486.3	37	c.4367	CCDS14033.1	22	.	.	.	.	.	.	.	.	.	.	G	6.893	0.534345	0.13188	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.59083	0.29;0.29	5.28	2.93	0.34026	.	0.724348	0.12871	N	0.432247	T	0.36963	0.0986	N	0.14661	0.345	0.09310	N	1	B;B	0.20459	0.045;0.026	B;B	0.23852	0.049;0.022	T	0.26780	-1.0093	10	0.51188	T	0.08	-1.0E-4	4.1695	0.10322	0.2596:0.3526:0.3878:0.0	.	1456;1456	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	D	1456	ENSP00000352463:A1456D;ENSP00000335561:A1456D	ENSP00000335561:A1456D	A	-	2	0	TCF20	40936889	0.000000	0.05858	0.049000	0.19019	0.896000	0.52359	0.826000	0.27407	0.609000	0.30018	0.655000	0.94253	GCC	-	NULL		0.522	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF20	protein_coding	OTTHUMT00000320531.1	G	NM_181492	-		42606945	-1	no_errors	ENST00000359486	ensembl	human	known	74_37	missense	SNP	0.007	T
MIRLET7BHG	400931	genome.wustl.edu	37	22	46505875	46505875	+	Silent	SNP	A	A	G			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr22:46505875A>G	ENST00000360737.3	+	5	627	c.468A>G	c.(466-468)ggA>ggG	p.G156G	MIRLET7A3_ENST00000362116.1_RNA																							GCCCAGGGGGAGGGCACTTGT	0.612																																																	0								ENSG00000197182						18.0	19.0	18.0					22																	46505875		692	1591	2283	FLJ27365	SO:0001819	synonymous_variant	0			-	Uniprot_gn																												ENST00000360737.3:c.468A>G	22.37:g.46505875A>G		Somatic	0	65	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89		Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.G156	ENST00000360737.3	37	c.468		22																																																																																			-	NULL		0.612	FLJ27365-001	PUTATIVE	basic|appris_candidate	protein_coding	ENSG00000197182	protein_coding	OTTHUMT00000316781.1	A		-		46505875	+1	no_errors	ENST00000360737	ensembl	human	putative	74_37	silent	SNP	0.024	G
PIGB	9488	genome.wustl.edu	37	15	55647016	55647016	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr15:55647016C>T	ENST00000164305.5	+	11	1649	c.1358C>T	c.(1357-1359)cCc>cTc	p.P453L	PIGB_ENST00000539642.1_Missense_Mutation_p.P258L|DYX1C1-CCPG1_ENST00000565113.1_RNA	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B	453					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		TGCCCACTTCCCATGAGATTT	0.348																																																	0								ENSG00000069943						67.0	61.0	63.0					15																	55647016		1863	4095	5958	PIGB	SO:0001583	missense	0			-	HGNC	D42138	CCDS61641.1	15q21.3	2013-02-26	2006-06-28		ENSG00000069943	ENSG00000069943		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	8959	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 3"", ""dol-P-Man dependent GPI mannosyltransferase"""	604122	"""phosphatidylinositol glycan, class B"""			8861954	Standard	NM_004855		Approved		uc002act.3	Q92521	OTTHUMG00000172654	ENST00000164305.5:c.1358C>T	15.37:g.55647016C>T	ENSP00000164305:p.Pro453Leu	Somatic	0	37	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	21	43.24	Q53FF9|Q8WVN7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPI_mannosylTrfase	p.P453L	ENST00000164305.5	37	c.1358		15	.	.	.	.	.	.	.	.	.	.	C	10.91	1.483824	0.26598	.	.	ENSG00000069943	ENST00000164305;ENST00000539642	T;T	0.59906	0.54;0.23	5.87	5.87	0.94306	.	0.230190	0.43919	D	0.000518	T	0.54983	0.1892	M	0.68593	2.085	0.80722	D	1	B	0.12013	0.005	B	0.14578	0.011	T	0.48980	-0.8986	10	0.28530	T	0.3	-4.2926	12.7486	0.57296	0.257:0.743:0.0:0.0	.	453	Q92521	PIGB_HUMAN	L	453;258	ENSP00000164305:P453L;ENSP00000438963:P258L	ENSP00000164305:P453L	P	+	2	0	PIGB	53434308	0.976000	0.34144	0.366000	0.25914	0.502000	0.33828	2.753000	0.47524	2.785000	0.95823	0.591000	0.81541	CCC	-	NULL		0.348	PIGB-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	PIGB	protein_coding	OTTHUMT00000419687.1	C	NM_004855	-		55647016	+1	no_errors	ENST00000164305	ensembl	human	known	74_37	missense	SNP	0.930	T
MYH13	8735	genome.wustl.edu	37	17	10231194	10231194	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr17:10231194G>T	ENST00000418404.3	-	21	2843	c.2680C>A	c.(2680-2682)Cag>Aag	p.Q894K	MYH13_ENST00000252172.4_Missense_Mutation_p.Q894K|RP11-401O9.3_ENST00000577743.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	894					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GACTGGACCTGCAATTGGAGG	0.527											OREG0024177	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000006788						72.0	75.0	74.0					17																	10231194		2166	4288	6454	MYH13	SO:0001583	missense	0			-	HGNC	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.2680C>A	17.37:g.10231194G>T	ENSP00000404570:p.Gln894Lys	Somatic	0	41	0.00	663	0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	18	14.29	O95252|Q9P0U8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Q894K	ENST00000418404.3	37	c.2680	CCDS45613.1	17	.	.	.	.	.	.	.	.	.	.	G	22.1	4.249484	0.80024	.	.	ENSG00000006788	ENST00000252172	D	0.83335	-1.71	4.1	4.1	0.47936	.	.	.	.	.	D	0.86768	0.6012	M	0.90650	3.135	0.35168	D	0.771253	B	0.27229	0.172	B	0.28011	0.085	D	0.90768	0.4670	9	0.59425	D	0.04	.	16.9101	0.86138	0.0:0.0:1.0:0.0	.	894	Q9UKX3	MYH13_HUMAN	K	894	ENSP00000252172:Q894K	ENSP00000252172:Q894K	Q	-	1	0	MYH13	10171919	1.000000	0.71417	0.996000	0.52242	0.956000	0.61745	6.350000	0.73017	2.283000	0.76528	0.563000	0.77884	CAG	-	NULL		0.527	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYH13	protein_coding	OTTHUMT00000442255.1	G	NM_003802	-		10231194	-1	no_errors	ENST00000252172	ensembl	human	known	74_37	missense	SNP	0.999	T
ZNF70	7621	genome.wustl.edu	37	22	24086482	24086482	+	Silent	SNP	G	G	A	rs144085967		TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr22:24086482G>A	ENST00000341976.3	-	2	1306	c.846C>T	c.(844-846)tgC>tgT	p.C282C		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	282					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						CACAGAGATCGCACTCGTGAG	0.517																																																	0								ENSG00000187792	G		1,4405	2.1+/-5.4	0,1,2202	80.0	75.0	77.0		846	-6.7	0.0	22	dbSNP_134	77	0,8600		0,0,4300	no	coding-synonymous	ZNF70	NM_021916.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		282/447	24086482	1,13005	2203	4300	6503	ZNF70	SO:0001819	synonymous_variant	0			-	HGNC	X60077	CCDS13812.1	22q11.23	2013-01-08	2006-05-12		ENSG00000187792	ENSG00000187792		"""Zinc fingers, C2H2-type"""	13140	protein-coding gene	gene with protein product		194544	"""zinc finger protein 70 (Cos17)"""			1639391	Standard	NM_021916		Approved	Cos17, MGC48959	uc002zxs.3	Q9UC06	OTTHUMG00000150739	ENST00000341976.3:c.846C>T	22.37:g.24086482G>A		Somatic	0	33	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	19	17.39		Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C282	ENST00000341976.3	37	c.846	CCDS13812.1	22																																																																																			-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.517	ZNF70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF70	protein_coding	OTTHUMT00000319881.1	G	NM_021916	rs144085967		24086482	-1	no_errors	ENST00000341976	ensembl	human	known	74_37	silent	SNP	0.099	A
ALDH9A1	223	genome.wustl.edu	37	1	165649861	165649861	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DX-A8BR-01A-11D-A417-09	TCGA-DX-A8BR-10B-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef5e3110-5477-450e-b3b3-5d8d696b7657	8f441372-902f-471e-b032-fe958c7ea85f	g.chr1:165649861C>A	ENST00000354775.4	-	5	956	c.652G>T	c.(652-654)Gaa>Taa	p.E218*	ALDH9A1_ENST00000461664.1_5'UTR|ALDH9A1_ENST00000538148.1_Nonsense_Mutation_p.E124*	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	194					carnitine biosynthetic process (GO:0045329)|cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|hormone metabolic process (GO:0042445)|kidney development (GO:0001822)|liver development (GO:0001889)|neurotransmitter biosynthetic process (GO:0042136)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	1-pyrroline dehydrogenase activity (GO:0033737)|3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|4-trimethylammoniobutyraldehyde dehydrogenase activity (GO:0047105)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|amine binding (GO:0043176)|aminobutyraldehyde dehydrogenase activity (GO:0019145)|NAD binding (GO:0051287)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					CTGTAGATTTCAGCCAGTAGC	0.488																																					Ovarian(179;1583 2014 18106 33801 42447)												0								ENSG00000143149						107.0	109.0	108.0					1																	165649861		2203	4300	6503	ALDH9A1	SO:0001587	stop_gained	0			-	HGNC	U34252	CCDS1250.2	1q22-q23	2008-02-05			ENSG00000143149	ENSG00000143149		"""Aldehyde dehydrogenases"""	412	protein-coding gene	gene with protein product		602733		ALDH7, ALDH4, ALDH9		8112751, 8786138	Standard	NM_000696		Approved	E3	uc001gdh.1	P49189	OTTHUMG00000034677	ENST00000354775.4:c.652G>T	1.37:g.165649861C>A	ENSP00000346827:p.Glu218*	Somatic	0	74	0.00		0.6447345334680696	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	59	27.16	B2R6X1|B4DXY7|Q5VV90|Q6LCL1|Q9NZT7	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.E218*	ENST00000354775.4	37	c.652	CCDS1250.2	1	.	.	.	.	.	.	.	.	.	.	C	41	8.761812	0.98943	.	.	ENSG00000143149	ENST00000354775;ENST00000538148	.	.	.	5.63	4.7	0.59300	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	12.8189	0.57681	0.0:0.9187:0.0:0.0813	.	.	.	.	X	218;124	.	ENSP00000346827:E218X	E	-	1	0	ALDH9A1	163916485	1.000000	0.71417	0.997000	0.53966	0.949000	0.60115	7.619000	0.83057	2.644000	0.89710	0.655000	0.94253	GAA	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH		0.488	ALDH9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH9A1	protein_coding	OTTHUMT00000083899.1	C		-		165649861	-1	no_errors	ENST00000354775	ensembl	human	known	74_37	nonsense	SNP	1.000	A
