#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_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_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	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_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ASB10	136371	genome.wustl.edu	37	7	150884267	150884268	+	5'Flank	DEL	AG	AG	-	rs372716545		TCGA-BH-A0HI-01A-11D-A099-09	TCGA-BH-A0HI-10A-01D-A099-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	507213d0-ef1c-400c-8724-24cd6a39feb8	f3a881a6-bfa4-4dc7-8a41-f5e2b9538b34	g.chr7:150884267_150884268delAG	ENST00000420175.2	-	0	0				ASB10_ENST00000377867.3_Intron|ASB10_ENST00000422024.1_Frame_Shift_Del_p.L29fs|ASB10_ENST00000434669.1_Frame_Shift_Del_p.L29fs|ASB10_ENST00000275838.1_5'UTR			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10						intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCCAAAGGCagagagagagag	0.594																																						dbGAP											0																																										-	-	-	SO:0001631	upstream_gene_variant	0			AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"""Ankyrin repeat domain containing"""	17185	protein-coding gene	gene with protein product		615054	"""ankyrin repeat and SOCS box-containing 10"", ""glaucoma 1, open angle, F (adult-onset)"""	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013		7.37:g.150884277_150884278delAG	Exception_encountered		A0AVH0|Q6ZUL6	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C	p.L29fs	ENST00000420175.2	37	c.86_85	CCDS47750.2	7																																																																																			ASB10	-	NULL	ENSG00000146926		0.594	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB10	HGNC	protein_coding	OTTHUMT00000347096.3	27	0.00	0	AG	NM_080871		150884267	150884268	-1	no_errors	ENST00000422024	ensembl	human	known	69_37n	frame_shift_del	39	13.33	6	DEL	0.003:0.000	-
FAM129B	64855	genome.wustl.edu	37	9	130289586	130289586	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HI-01A-11D-A099-09	TCGA-BH-A0HI-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	507213d0-ef1c-400c-8724-24cd6a39feb8	f3a881a6-bfa4-4dc7-8a41-f5e2b9538b34	g.chr9:130289586G>A	ENST00000373312.3	-	3	415	c.202C>T	c.(202-204)Cgc>Tgc	p.R68C	FAM129B_ENST00000373314.3_Missense_Mutation_p.R55C|FAM129B_ENST00000468379.1_5'UTR	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	68	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						AAGACGATGCGCTCGTCCAGT	0.647																																						dbGAP											0													60.0	55.0	57.0					9																	130289586		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"""chromosome 9 open reading frame 88"""	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.202C>T	9.37:g.130289586G>A	ENSP00000362409:p.Arg68Cys		Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Missense_Mutation	SNP	pfscan_Pleckstrin_homology	p.R68C	ENST00000373312.3	37	c.202	CCDS35145.1	9	.	.	.	.	.	.	.	.	.	.	g	11.58	1.680069	0.29783	.	.	ENSG00000136830	ENST00000373314;ENST00000373312	T;T	0.17854	2.25;2.25	5.43	5.43	0.79202	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.139286	0.46758	D	0.000268	T	0.20495	0.0493	L	0.56769	1.78	0.51233	D	0.999916	B;B	0.28026	0.088;0.198	B;B	0.20955	0.032;0.032	T	0.01570	-1.1322	10	0.52906	T	0.07	-28.6486	16.7387	0.85454	0.0:0.0:1.0:0.0	.	55;68	Q96TA1-2;Q96TA1	.;NIBL1_HUMAN	C	55;68	ENSP00000362411:R55C;ENSP00000362409:R68C	ENSP00000362409:R68C	R	-	1	0	FAM129B	129329407	1.000000	0.71417	0.996000	0.52242	0.137000	0.21094	3.061000	0.49963	2.552000	0.86080	0.556000	0.70494	CGC	FAM129B	-	pfscan_Pleckstrin_homology	ENSG00000136830		0.647	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM129B	HGNC	protein_coding	OTTHUMT00000054196.1	56	0.00	0	G	NM_022833		130289586	130289586	-1	no_errors	ENST00000373312	ensembl	human	known	69_37n	missense	45	40.00	30	SNP	0.948	A
GINS2	51659	genome.wustl.edu	37	16	85711840	85711843	+	Frame_Shift_Del	DEL	CTCT	CTCT	-	rs372512257		TCGA-BH-A0HI-01A-11D-A099-09	TCGA-BH-A0HI-10A-01D-A099-09	CTCT	CTCT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	507213d0-ef1c-400c-8724-24cd6a39feb8	f3a881a6-bfa4-4dc7-8a41-f5e2b9538b34	g.chr16:85711840_85711843delCTCT	ENST00000253462.3	-	5	633_636	c.533_536delAGAG	c.(532-537)gagagtfs	p.ES178fs		NM_016095.2	NP_057179.1	Q9Y248	PSF2_HUMAN	GINS complex subunit 2 (Psf2 homolog)	178					DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)	nucleoplasm (GO:0005654)				endometrium(2)|large_intestine(2)|lung(2)	6						AGACTGAGTACTCTCCAGAGGCTG	0.554																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC003186	CCDS10953.1	16q24.1	2008-02-05			ENSG00000131153	ENSG00000131153			24575	protein-coding gene	gene with protein product		610609				11042152, 10810093	Standard	NM_016095		Approved	PSF2, Pfs2	uc002fja.3	Q9Y248	OTTHUMG00000137646	ENST00000253462.3:c.533_536delAGAG	16.37:g.85711840_85711843delCTCT	ENSP00000253462:p.Glu178fs		D3DUM5|Q6IAG9	Frame_Shift_Del	DEL	pfam_GINS_complex,pirsf_GINS_Psf2_subgr	p.E178fs	ENST00000253462.3	37	c.536_533	CCDS10953.1	16																																																																																			GINS2	-	pirsf_GINS_Psf2_subgr	ENSG00000131153		0.554	GINS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GINS2	HGNC	protein_coding	OTTHUMT00000269098.1	237	0.00	0	CTCT	NM_016095		85711840	85711843	-1	no_errors	ENST00000253462	ensembl	human	known	69_37n	frame_shift_del	93	43.29	71	DEL	0.004:0.005:0.000:0.002	-
HSPA8	3312	genome.wustl.edu	37	11	122930294	122930296	+	In_Frame_Del	DEL	AGG	AGG	-	rs115882568	byFrequency	TCGA-BH-A0HI-01A-11D-A099-09	TCGA-BH-A0HI-10A-01D-A099-09	AGG	AGG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	507213d0-ef1c-400c-8724-24cd6a39feb8	f3a881a6-bfa4-4dc7-8a41-f5e2b9538b34	g.chr11:122930294_122930296delAGG	ENST00000532636.1	-	5	1124_1126	c.1005_1007delCCT	c.(1003-1008)gtcctg>gtg	p.L336del	HSPA8_ENST00000453788.2_In_Frame_Del_p.L336del|HSPA8_ENST00000526110.1_In_Frame_Del_p.L317del|HSPA8_ENST00000526862.1_5'UTR|HSPA8_ENST00000533540.1_In_Frame_Del_p.L190del|HSPA8_ENST00000534624.1_In_Frame_Del_p.L336del|HSPA8_ENST00000534319.1_In_Frame_Del_p.L100del|SNORD14E_ENST00000364009.1_RNA|HSPA8_ENST00000227378.3_In_Frame_Del_p.L336del|SNORD14C_ENST00000365382.1_RNA|SNORD14D_ENST00000384390.1_RNA			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	336	Interaction with BAG1.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		ACCACCAACCAGGACAATATCAT	0.453																																					Colon(21;486 594 5900 6733 14272)	dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"""Heat shock proteins / HSP70"""	5241	protein-coding gene	gene with protein product		600816	"""heat shock 70kD protein 8"""	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.1005_1007delCCT	11.37:g.122930294_122930296delAGG	ENSP00000437125:p.Leu336del		Q9H3R6	In_Frame_Del	DEL	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.L336in_frame_del	ENST00000532636.1	37	c.1007_1005	CCDS8440.1	11																																																																																			HSPA8	-	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	ENSG00000109971		0.453	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	HSPA8	HGNC	protein_coding	OTTHUMT00000387515.1	72	0.00	0	AGG			122930294	122930296	-1	no_errors	ENST00000534624	ensembl	human	known	69_37n	in_frame_del	51	28.17	20	DEL	1.000:0.975:0.988	-
LOXHD1	125336	genome.wustl.edu	37	18	44122702	44122702	+	Missense_Mutation	SNP	G	G	A	rs17854178		TCGA-BH-A0HI-01A-11D-A099-09	TCGA-BH-A0HI-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	507213d0-ef1c-400c-8724-24cd6a39feb8	f3a881a6-bfa4-4dc7-8a41-f5e2b9538b34	g.chr18:44122702G>A	ENST00000398722.4	-	17	2901	c.2902C>T	c.(2902-2904)Cat>Tat	p.H968Y	LOXHD1_ENST00000579038.1_Missense_Mutation_p.H39Y|LOXHD1_ENST00000582408.1_Missense_Mutation_p.H135Y|LOXHD1_ENST00000441893.2_Missense_Mutation_p.H179Y|LOXHD1_ENST00000441551.2_Missense_Mutation_p.H1040Y|LOXHD1_ENST00000300591.6_Missense_Mutation_p.H135Y|LOXHD1_ENST00000536736.1_Missense_Mutation_p.H1246Y			Q8IVV2	LOXH1_HUMAN	lipoxygenase homology domains 1	968	PLAT 7. {ECO:0000255|PROSITE- ProRule:PRU00152}.			H -> N (in Ref. 4; AAH41860). {ECO:0000305}.	calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|sensory perception of sound (GO:0007605)	membrane (GO:0016020)|stereocilium (GO:0032420)	calcium channel activity (GO:0005262)			NS(3)|autonomic_ganglia(1)|breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|pancreas(1)|prostate(4)|skin(4)|stomach(1)	36						GTGTTGTCATGGCCAAGCCGG	0.512																																						dbGAP											0													107.0	115.0	113.0					18																	44122702		692	1591	2283	-	-	-	SO:0001583	missense	0			AK057232	CCDS45861.1, CCDS45862.1, CCDS54184.1	18q21.1	2009-09-11			ENSG00000167210	ENSG00000167210			26521	protein-coding gene	gene with protein product		613072	"""deafness, autosomal recessive 77"""	DFNB77		19732867	Standard	NM_144612		Approved	FLJ32670, LH2D1	uc010xcw.1	Q8IVV2	OTTHUMG00000132644	ENST00000398722.4:c.2902C>T	18.37:g.44122702G>A	ENSP00000381707:p.His968Tyr		B7WNN3|B7WNT1|B7WPI9|Q6ZRY7|Q86WW9|Q96DL7	Missense_Mutation	SNP	pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2	p.H1246Y	ENST00000398722.4	37	c.3736		18	.	.	.	.	.	.	.	.	.	.	G	10.60	1.396412	0.25205	.	.	ENSG00000167210	ENST00000300591;ENST00000398722;ENST00000536736;ENST00000441893;ENST00000335730;ENST00000536111	T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19	5.68	5.68	0.88126	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.047348	0.85682	D	0.000000	D	0.87692	0.6241	H	0.98027	4.13	0.48288	D	0.999622	D;D;D;D	0.69078	0.997;0.975;0.976;0.981	D;D;D;D	0.81914	0.995;0.974;0.98;0.989	D	0.91720	0.5388	10	0.72032	D	0.01	.	19.3902	0.94578	0.0:0.0:1.0:0.0	.	1246;179;968;968	F5GZB4;F8WA52;Q8IVV2-2;Q8IVV2	.;.;.;LOXH1_HUMAN	Y	135;968;1246;179;968;148	ENSP00000300591:H135Y;ENSP00000381707:H968Y;ENSP00000444586:H1246Y;ENSP00000409062:H179Y;ENSP00000440060:H148Y	ENSP00000300591:H135Y	H	-	1	0	LOXHD1	42376700	1.000000	0.71417	1.000000	0.80357	0.132000	0.20833	8.846000	0.92159	2.698000	0.92095	0.561000	0.74099	CAT	LOXHD1	-	pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2	ENSG00000167210		0.512	LOXHD1-201	KNOWN	basic	protein_coding	LOXHD1	HGNC	protein_coding		110	0.00	0	G	NM_144612		44122702	44122702	-1	no_errors	ENST00000536736	ensembl	human	known	69_37n	missense	136	33.98	70	SNP	1.000	A
MAST1	22983	genome.wustl.edu	37	19	12969490	12969490	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HI-01A-11D-A099-09	TCGA-BH-A0HI-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	507213d0-ef1c-400c-8724-24cd6a39feb8	f3a881a6-bfa4-4dc7-8a41-f5e2b9538b34	g.chr19:12969490G>A	ENST00000251472.4	+	12	1342	c.1303G>A	c.(1303-1305)Gtc>Atc	p.V435I	MAST1_ENST00000591495.1_Missense_Mutation_p.V431I	NM_014975.2	NP_055790.1			microtubule associated serine/threonine kinase 1											NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CCCGTTTGTGGTCGGCATGTT	0.567																																						dbGAP											0													101.0	86.0	91.0					19																	12969490		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023190	CCDS32921.1	19p13.2	2008-02-05				ENSG00000105613			19034	protein-coding gene	gene with protein product		612256					Standard	NM_014975		Approved	SAST, KIAA0973	uc002mvm.3	Q9Y2H9		ENST00000251472.4:c.1303G>A	19.37:g.12969490G>A	ENSP00000251472:p.Val435Ile			Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.V435I	ENST00000251472.4	37	c.1303	CCDS32921.1	19	.	.	.	.	.	.	.	.	.	.	G	26.7	4.759875	0.89932	.	.	ENSG00000105613	ENST00000251472;ENST00000542153	T	0.35421	1.31	4.6	4.6	0.57074	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.50326	0.1609	L	0.37897	1.145	0.58432	D	0.999999	D;D	0.67145	0.996;0.985	D;D	0.87578	0.998;0.921	T	0.53816	-0.8385	10	0.87932	D	0	-38.384	15.2839	0.73814	0.0:0.0:1.0:0.0	.	435;435	Q9Y2H9;F5H2S9	MAST1_HUMAN;.	I	435	ENSP00000251472:V435I	ENSP00000251472:V435I	V	+	1	0	MAST1	12830490	1.000000	0.71417	0.996000	0.52242	0.906000	0.53458	9.855000	0.99526	2.292000	0.77174	0.561000	0.74099	GTC	MAST1	-	pfam_Prot_kinase_cat_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_cat_dom	ENSG00000105613		0.567	MAST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST1	HGNC	protein_coding	OTTHUMT00000451733.2	168	0.00	0	G	NM_014975		12969490	12969490	+1	no_errors	ENST00000251472	ensembl	human	known	69_37n	missense	149	26.96	55	SNP	1.000	A
MTMR4	9110	genome.wustl.edu	37	17	56581178	56581178	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0HI-01A-11D-A099-09	TCGA-BH-A0HI-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	507213d0-ef1c-400c-8724-24cd6a39feb8	f3a881a6-bfa4-4dc7-8a41-f5e2b9538b34	g.chr17:56581178C>G	ENST00000323456.5	-	15	1862	c.1738G>C	c.(1738-1740)Ggg>Cgg	p.G580R	MTMR4_ENST00000579925.1_Missense_Mutation_p.G523R	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	580					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|small molecule metabolic process (GO:0044281)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|early endosome membrane (GO:0031901)|extracellular space (GO:0005615)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTTTCTTCCCCAAGTGTGCAT	0.537																																						dbGAP											0													131.0	129.0	130.0					17																	56581178		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014547	CCDS11608.1	17q22-q23	2011-06-09				ENSG00000108389		"""Zinc fingers, FYVE domain containing"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7452	protein-coding gene	gene with protein product		603559				9736772	Standard	NM_004687		Approved	KIAA0647, ZFYVE11	uc002iwj.2	Q9NYA4		ENST00000323456.5:c.1738G>C	17.37:g.56581178C>G	ENSP00000325285:p.Gly580Arg		D3DTZ6|Q8IV27|Q9Y4D5	Missense_Mutation	SNP	pfam_Myotub-related,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Tyr/Dual-specificity_Pase	p.G580R	ENST00000323456.5	37	c.1738	CCDS11608.1	17	.	.	.	.	.	.	.	.	.	.	C	10.07	1.249093	0.22880	.	.	ENSG00000108389	ENST00000323456	D	0.92699	-3.09	5.98	5.01	0.66863	.	0.292551	0.39687	N	0.001286	T	0.80486	0.4632	N	0.04260	-0.245	0.39545	D	0.968889	B	0.06786	0.001	B	0.08055	0.003	T	0.75354	-0.3347	10	0.37606	T	0.19	.	8.9962	0.36055	0.0:0.7933:0.0:0.2067	.	580	Q9NYA4	MTMR4_HUMAN	R	580	ENSP00000325285:G580R	ENSP00000325285:G580R	G	-	1	0	MTMR4	53936177	0.997000	0.39634	1.000000	0.80357	0.997000	0.91878	2.920000	0.48844	2.837000	0.97791	0.591000	0.81541	GGG	MTMR4	-	NULL	ENSG00000108389		0.537	MTMR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR4	HGNC	protein_coding	OTTHUMT00000444721.1	33	0.00	0	C	NM_004687		56581178	56581178	-1	no_errors	ENST00000323456	ensembl	human	known	69_37n	missense	45	34.78	24	SNP	1.000	G
MUC12	10071	genome.wustl.edu	37	7	100647276	100647276	+	Missense_Mutation	SNP	C	C	A	rs202226352	byFrequency	TCGA-BH-A0HI-01A-11D-A099-09	TCGA-BH-A0HI-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	507213d0-ef1c-400c-8724-24cd6a39feb8	f3a881a6-bfa4-4dc7-8a41-f5e2b9538b34	g.chr7:100647276C>A	ENST00000379442.3	+	5	13861	c.13861C>A	c.(13861-13863)Cct>Act	p.P4621T	MUC12_ENST00000536621.1_Missense_Mutation_p.P4478T			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	4621	28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						AACACACTTCCCTGACAGCTC	0.542																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.13861C>A	7.37:g.100647276C>A	ENSP00000368755:p.Pro4621Thr		A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA	p.P4621T	ENST00000379442.3	37	c.13861		7	.	.	.	.	.	.	.	.	.	.	C	0.646	-0.811242	0.02798	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.14893	2.48;2.47	0.917	-0.282	0.12878	.	.	.	.	.	T	0.06325	0.0163	N	0.08118	0	0.80722	P	0.0	.	.	.	.	.	.	T	0.35871	-0.9771	6	0.25751	T	0.34	.	1.6623	0.02794	0.3368:0.4106:0.0:0.2526	.	.	.	.	T	4621;4478	ENSP00000368755:P4621T;ENSP00000441929:P4478T	ENSP00000368755:P4621T	P	+	1	0	MUC12	100433996	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.639000	0.05446	-0.109000	0.12044	0.430000	0.28490	CCT	MUC12	-	NULL	ENSG00000205277		0.542	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	64	0.00	0	C	XM_379904		100647276	100647276	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	missense	25	19.35	6	SNP	0.001	A
MYPN	84665	genome.wustl.edu	37	10	69934047	69934047	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HI-01A-11D-A099-09	TCGA-BH-A0HI-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	507213d0-ef1c-400c-8724-24cd6a39feb8	f3a881a6-bfa4-4dc7-8a41-f5e2b9538b34	g.chr10:69934047C>T	ENST00000358913.5	+	11	2686	c.2198C>T	c.(2197-2199)aCc>aTc	p.T733I	MYPN_ENST00000354393.2_Missense_Mutation_p.T458I|MYPN_ENST00000540630.1_Missense_Mutation_p.T733I	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	733					sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						ACGAACACCACCGCAGCAACT	0.547																																						dbGAP											0													108.0	112.0	111.0					10																	69934047		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.2198C>T	10.37:g.69934047C>T	ENSP00000351790:p.Thr733Ile		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.T733I	ENST00000358913.5	37	c.2198	CCDS7275.1	10	.	.	.	.	.	.	.	.	.	.	C	6.982	0.551306	0.13374	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630	T;T;T	0.57273	0.41;0.5;0.48	5.43	3.53	0.40419	.	0.690255	0.15343	N	0.267405	T	0.36276	0.0961	L	0.29908	0.895	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.19289	-1.0310	9	.	.	.	.	7.2537	0.26164	0.0:0.7129:0.1407:0.1464	.	733;458;733	F5GWA6;Q86TC9-2;Q86TC9	.;.;MYPN_HUMAN	I	458;458;733;733	ENSP00000346369:T458I;ENSP00000351790:T733I;ENSP00000441668:T733I	.	T	+	2	0	MYPN	69604053	0.000000	0.05858	0.003000	0.11579	0.274000	0.26718	0.425000	0.21346	0.740000	0.32651	0.655000	0.94253	ACC	MYPN	-	NULL	ENSG00000138347		0.547	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYPN	HGNC	protein_coding	OTTHUMT00000048307.1	102	0.00	0	C	NM_032578		69934047	69934047	+1	no_errors	ENST00000358913	ensembl	human	known	69_37n	missense	89	34.56	47	SNP	0.004	T
OR5H1	26341	genome.wustl.edu	37	3	97851563	97851563	+	Silent	SNP	T	T	C			TCGA-BH-A0HI-01A-11D-A099-09	TCGA-BH-A0HI-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	507213d0-ef1c-400c-8724-24cd6a39feb8	f3a881a6-bfa4-4dc7-8a41-f5e2b9538b34	g.chr3:97851563T>C	ENST00000354565.2	+	1	22	c.22T>C	c.(22-24)Ttg>Ctg	p.L8L	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	8						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(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						AAATGCAACATTGCTGACAGA	0.393																																						dbGAP											0													79.0	80.0	80.0					3																	97851563		2199	4293	6492	-	-	-	SO:0001819	synonymous_variant	0			X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"""GPCR / Class A : Olfactory receptors"""	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.22T>C	3.37:g.97851563T>C				Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L8	ENST00000354565.2	37	c.22	CCDS33797.1	3																																																																																			OR5H1	-	NULL	ENSG00000231192		0.393	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H1	HGNC	protein_coding	OTTHUMT00000359100.2	80	0.00	0	T	NM_001005338		97851563	97851563	+1	no_errors	ENST00000354565	ensembl	human	known	69_37n	silent	63	11.27	8	SNP	0.000	C
PDE6B	5158	genome.wustl.edu	37	4	658672	658672	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HI-01A-11D-A099-09	TCGA-BH-A0HI-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	507213d0-ef1c-400c-8724-24cd6a39feb8	f3a881a6-bfa4-4dc7-8a41-f5e2b9538b34	g.chr4:658672C>T	ENST00000496514.1	+	18	2153	c.2132C>T	c.(2131-2133)gCc>gTc	p.A711V	RP11-1191J2.5_ENST00000609172.1_RNA|PDE6B_ENST00000255622.6_Missense_Mutation_p.A711V|PDE6B_ENST00000429163.2_Missense_Mutation_p.A432V			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	711					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	GTCTGCAGGGCCATGATGATG	0.552																																					GBM(71;463 1194 9848 25922 46834)	dbGAP											0													92.0	89.0	90.0					4																	658672		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"""Phosphodiesterases"""	8786	protein-coding gene	gene with protein product	"""congenital stationary night blindness 3, autosomal dominant"""	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.2132C>T	4.37:g.658672C>T	ENSP00000420295:p.Ala711Val		B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.A711V	ENST00000496514.1	37	c.2132	CCDS33932.1	4	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130706	0.77549	.	.	ENSG00000133256	ENST00000255622;ENST00000496514;ENST00000429163;ENST00000471824	T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13	4.27	4.27	0.50696	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.284658	0.32533	U	0.005979	D	0.86577	0.5966	M	0.89287	3.02	0.58432	D	0.999999	P;P	0.43314	0.578;0.803	P;P	0.52159	0.61;0.691	D	0.89566	0.3810	10	0.87932	D	0	.	14.555	0.68094	0.0:1.0:0.0:0.0	.	711;711	P35913;P35913-2	PDE6B_HUMAN;.	V	711;711;432;71	ENSP00000255622:A711V;ENSP00000420295:A711V;ENSP00000406334:A432V;ENSP00000417852:A71V	ENSP00000255622:A711V	A	+	2	0	PDE6B	648672	1.000000	0.71417	1.000000	0.80357	0.493000	0.33554	7.301000	0.78850	2.073000	0.62155	0.484000	0.47621	GCC	PDE6B	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	ENSG00000133256		0.552	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE6B	HGNC	protein_coding	OTTHUMT00000358109.1	63	0.00	0	C	NM_000283		658672	658672	+1	no_errors	ENST00000496514	ensembl	human	known	69_37n	missense	48	15.79	9	SNP	1.000	T
PIK3CA	5290	genome.wustl.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-BH-A0HI-01A-11D-A099-09	TCGA-BH-A0HI-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	507213d0-ef1c-400c-8724-24cd6a39feb8	f3a881a6-bfa4-4dc7-8a41-f5e2b9538b34	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|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)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|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 peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61.0	60.0	60.0					3																	178936091		1813	4072	5885	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	93	0.00	0	G			178936091	178936091	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	100	27.54	38	SNP	1.000	A
RGMB	285704	genome.wustl.edu	37	5	98115336	98115336	+	Silent	SNP	C	C	T			TCGA-BH-A0HI-01A-11D-A099-09	TCGA-BH-A0HI-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	507213d0-ef1c-400c-8724-24cd6a39feb8	f3a881a6-bfa4-4dc7-8a41-f5e2b9538b34	g.chr5:98115336C>T	ENST00000513185.1	+	2	625	c.189C>T	c.(187-189)ttC>ttT	p.F63F	RGMB_ENST00000504776.1_3'UTR|RGMB_ENST00000308234.7_Silent_p.F104F			Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	63					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|cell adhesion (GO:0007155)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)	anchored component of plasma membrane (GO:0046658)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)	identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		CCACGGACTTCGTGTCCCTGA	0.493																																						dbGAP											0													188.0	190.0	189.0					5																	98115336		2029	4171	6200	-	-	-	SO:0001819	synonymous_variant	0			AK074887	CCDS47251.1	5q21.1	2013-11-06	2013-11-06		ENSG00000174136	ENSG00000174136			26896	protein-coding gene	gene with protein product		612687	"""RGM domain family, member B"""			19324014	Standard	NM_001012761		Approved	FLJ90406, DRAGON	uc003knc.3	Q6NW40	OTTHUMG00000162745	ENST00000513185.1:c.189C>T	5.37:g.98115336C>T			D6R9A0|Q8NC92	Silent	SNP	pfam_RGM_C,pfam_RGM_N	p.F104	ENST00000513185.1	37	c.312		5																																																																																			RGMB	-	pfam_RGM_N	ENSG00000174136		0.493	RGMB-003	KNOWN	basic	protein_coding	RGMB	HGNC	protein_coding	OTTHUMT00000370308.1	47	0.00	0	C	NM_173670		98115336	98115336	+1	no_errors	ENST00000308234	ensembl	human	known	69_37n	silent	69	26.60	25	SNP	0.908	T
SEMA6C	10500	genome.wustl.edu	37	1	151111915	151111915	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HI-01A-11D-A099-09	TCGA-BH-A0HI-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	507213d0-ef1c-400c-8724-24cd6a39feb8	f3a881a6-bfa4-4dc7-8a41-f5e2b9538b34	g.chr1:151111915G>A	ENST00000341697.3	-	6	2031	c.340C>T	c.(340-342)Cgg>Tgg	p.R114W				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	114	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGCTTTCCCCGTACAGCACAG	0.498																																						dbGAP											0													249.0	224.0	233.0					1																	151111915		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"""Semaphorins"""	10740	protein-coding gene	gene with protein product	"""m-Sema Y2"""	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.340C>T	1.37:g.151111915G>A	ENSP00000344148:p.Arg114Trp		D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	p.R114W	ENST00000341697.3	37	c.340	CCDS984.1	1	.	.	.	.	.	.	.	.	.	.	G	19.00	3.742757	0.69418	.	.	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697;ENST00000392792	T;T;T;T	0.11385	2.78;2.78;2.78;2.78	4.99	4.99	0.66335	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.24431	0.0592	M	0.74258	2.255	0.48901	D	0.999725	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.989;0.994;0.997	T	0.00536	-1.1683	10	0.87932	D	0	.	13.6355	0.62221	0.0:0.0:1.0:0.0	.	114;114;114;114	B4DZD4;Q9H3T2-2;Q9H3T2-3;Q9H3T2	.;.;.;SEM6C_HUMAN	W	114	ENSP00000357910:R114W;ENSP00000357908:R114W;ENSP00000357909:R114W;ENSP00000344148:R114W	ENSP00000344148:R114W	R	-	1	2	SEMA6C	149378539	0.991000	0.36638	0.961000	0.40146	0.960000	0.62799	2.175000	0.42491	2.610000	0.88304	0.561000	0.74099	CGG	SEMA6C	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	ENSG00000143434		0.498	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	SEMA6C	HGNC	protein_coding	OTTHUMT00000034074.1	270	0.00	0	G	NM_030913		151111915	151111915	-1	no_errors	ENST00000368913	ensembl	human	known	69_37n	missense	221	19.27	53	SNP	0.908	A
RYR2	6262	genome.wustl.edu	37	1	237954734	237954734	+	Silent	SNP	T	T	C			TCGA-BH-A0HI-01A-11D-A099-09	TCGA-BH-A0HI-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	507213d0-ef1c-400c-8724-24cd6a39feb8	f3a881a6-bfa4-4dc7-8a41-f5e2b9538b34	g.chr1:237954734T>C	ENST00000366574.2	+	93	13799	c.13482T>C	c.(13480-13482)taT>taC	p.Y4494Y	RYR2_ENST00000360064.6_Silent_p.Y4500Y|RYR2_ENST00000542537.1_Silent_p.Y4478Y	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4494					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTCAGAACTATTTTGCTCGCA	0.348																																						dbGAP											0													183.0	159.0	167.0					1																	237954734		1846	4091	5937	-	-	-	SO:0001819	synonymous_variant	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.13482T>C	1.37:g.237954734T>C			Q15411|Q546N8|Q5T3P2	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.Y4500	ENST00000366574.2	37	c.13500	CCDS55691.1	1																																																																																			RYR2	-	pfam_Ryanrecept_TM4-6	ENSG00000198626		0.348	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	425	0.00	0	T	NM_001035		237954734	237954734	+1	no_errors	ENST00000360064	ensembl	human	known	69_37n	silent	242	29.45	101	SNP	1.000	C
SLC23A2	9962	genome.wustl.edu	37	20	4850569	4850569	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BH-A0HI-01A-11D-A099-09	TCGA-BH-A0HI-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	507213d0-ef1c-400c-8724-24cd6a39feb8	f3a881a6-bfa4-4dc7-8a41-f5e2b9538b34	g.chr20:4850569delG	ENST00000379333.1	-	12	1625	c.1233delC	c.(1231-1233)cccfs	p.P411fs	SLC23A2_ENST00000338244.1_Frame_Shift_Del_p.P411fs|SLC23A2_ENST00000424750.2_Frame_Shift_Del_p.P297fs|SNORA31_ENST00000516287.1_RNA|SLC23A2_ENST00000468355.1_5'UTR	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	411					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)	p.I412fs*4(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TTGCGTGGATGGGGGGGGGTG	0.527																																						dbGAP											1	Deletion - Frameshift(1)	ovary(1)											65.0	70.0	68.0					20																	4850569		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"""Solute carriers"""	10973	protein-coding gene	gene with protein product		603791	"""solute carrier family 23 (nucleobase transporters), member 1"""	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.1233delC	20.37:g.4850569delG	ENSP00000368637:p.Pro411fs		B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Frame_Shift_Del	DEL	pfam_Xant/urac/vitC	p.I412fs	ENST00000379333.1	37	c.1233	CCDS13085.1	20																																																																																			SLC23A2	-	pfam_Xant/urac/vitC	ENSG00000089057		0.527	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC23A2	HGNC	protein_coding	OTTHUMT00000077832.1	45	0.00	0	G			4850569	4850569	-1	no_errors	ENST00000338244	ensembl	human	known	69_37n	frame_shift_del	74	10.84	9	DEL	0.974	-
SLC26A7	115111	genome.wustl.edu	37	8	92406479	92406479	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0HI-01A-11D-A099-09	TCGA-BH-A0HI-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	507213d0-ef1c-400c-8724-24cd6a39feb8	f3a881a6-bfa4-4dc7-8a41-f5e2b9538b34	g.chr8:92406479C>A	ENST00000309536.2	+	19	2189	c.1969C>A	c.(1969-1971)Ctt>Att	p.L657I	SLC26A7_ENST00000276609.3_Intron|SLC26A7_ENST00000520249.1_Intron|SLC26A7_ENST00000523719.1_Intron	NM_134266.1	NP_599028.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TAACTTGGATCTTCCAACAAT	0.443																																						dbGAP											0													92.0	91.0	91.0					8																	92406479		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000309536.2:c.1969C>A	8.37:g.92406479C>A	ENSP00000309504:p.Leu657Ile			Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom	p.L657I	ENST00000309536.2	37	c.1969	CCDS6255.1	8	.	.	.	.	.	.	.	.	.	.	C	5.720	0.317284	0.10845	.	.	ENSG00000147606	ENST00000309536	D	0.92699	-3.09	5.05	-2.93	0.05598	.	3.214620	0.00815	N	0.001525	D	0.82857	0.5128	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.70285	-0.4914	9	0.19147	T	0.46	.	2.9219	0.05772	0.1098:0.4182:0.1078:0.3642	.	657	Q8TE54-2	.	I	657	ENSP00000309504:L657I	ENSP00000309504:L657I	L	+	1	0	SLC26A7	92475655	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.329000	0.02677	-1.339000	0.02230	-1.119000	0.02030	CTT	SLC26A7	-	NULL	ENSG00000147606		0.443	SLC26A7-004	KNOWN	basic|CCDS	protein_coding	SLC26A7	HGNC	protein_coding	OTTHUMT00000377012.1	184	0.54	1	C			92406479	92406479	+1	no_errors	ENST00000309536	ensembl	human	known	69_37n	missense	126	25.00	42	SNP	0.000	A
SMYD5	10322	genome.wustl.edu	37	2	73448984	73448985	+	Frame_Shift_Del	DEL	TT	TT	-	rs566438849		TCGA-BH-A0HI-01A-11D-A099-09	TCGA-BH-A0HI-10A-01D-A099-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	507213d0-ef1c-400c-8724-24cd6a39feb8	f3a881a6-bfa4-4dc7-8a41-f5e2b9538b34	g.chr2:73448984_73448985delTT	ENST00000389501.4	+	6	613_614	c.568_569delTT	c.(568-570)tttfs	p.F190fs	SMYD5_ENST00000474652.1_3'UTR	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	190	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						GATCAGACTCTTTTCCCAGTTT	0.475																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U50383	CCDS33221.2	2p12	2007-02-09	2003-05-14	2003-05-16	ENSG00000135632	ENSG00000135632		"""Zinc fingers, MYND-type"""	16258	protein-coding gene	gene with protein product			"""retinoic acid induced 15"""	RAI15		8754834	Standard	NM_006062		Approved	RRG1, NN8-4AG, ZMYND23	uc002siw.2	Q6GMV2	OTTHUMG00000150482	ENST00000389501.4:c.568_569delTT	2.37:g.73448986_73448987delTT	ENSP00000374152:p.Phe190fs		D6W5H3|Q13558	Frame_Shift_Del	DEL	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	p.S191fs	ENST00000389501.4	37	c.568_569	CCDS33221.2	2																																																																																			SMYD5	-	pfam_SET_dom,smart_SET_dom	ENSG00000135632		0.475	SMYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD5	HGNC	protein_coding	OTTHUMT00000318301.1	176	0.00	0	TT	NM_006062		73448984	73448985	+1	no_errors	ENST00000389501	ensembl	human	known	69_37n	frame_shift_del	177	11.94	24	DEL	1.000:1.000	-
SULF2	55959	genome.wustl.edu	37	20	46307432	46307432	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HI-01A-11D-A099-09	TCGA-BH-A0HI-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	507213d0-ef1c-400c-8724-24cd6a39feb8	f3a881a6-bfa4-4dc7-8a41-f5e2b9538b34	g.chr20:46307432C>T	ENST00000359930.4	-	8	2032	c.1181G>A	c.(1180-1182)cGg>cAg	p.R394Q	CTD-2653D5.1_ENST00000526566.2_RNA|SULF2_ENST00000361612.4_Missense_Mutation_p.R394Q|SULF2_ENST00000484875.1_Missense_Mutation_p.R394Q|SULF2_ENST00000467815.1_Missense_Mutation_p.R394Q	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	394					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)	p.R394Q(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						ATTCACCGGCCGCTCCGTGTC	0.607																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											133.0	129.0	130.0					20																	46307432		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.1181G>A	20.37:g.46307432C>T	ENSP00000353007:p.Arg394Gln		E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	pfam_Sulfatase,pfam_Extracellular_sulfatase_C,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase	p.R394Q	ENST00000359930.4	37	c.1181	CCDS13408.1	20	.	.	.	.	.	.	.	.	.	.	c	12.42	1.933775	0.34096	.	.	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000467815	D;D;D;D	0.96265	-3.96;-3.96;-3.96;-3.96	5.37	4.43	0.53597	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.104681	0.64402	D	0.000014	D	0.92328	0.7566	N	0.25890	0.77	0.40243	D	0.977983	B;B	0.20164	0.042;0.023	B;B	0.17098	0.017;0.017	D	0.89053	0.3457	10	0.36615	T	0.2	-23.9227	14.2854	0.66243	0.0:0.9281:0.0:0.0719	.	394;394	Q8IWU5-2;Q8IWU5	.;SULF2_HUMAN	Q	394	ENSP00000353007:R394Q;ENSP00000418290:R394Q;ENSP00000354662:R394Q;ENSP00000418442:R394Q	ENSP00000353007:R394Q	R	-	2	0	SULF2	45740839	0.939000	0.31865	0.999000	0.59377	0.340000	0.28889	1.282000	0.33226	1.275000	0.44379	-0.461000	0.05368	CGG	SULF2	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase	ENSG00000196562		0.607	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SULF2	HGNC	protein_coding	OTTHUMT00000079606.1	79	0.00	0	C	NM_018837		46307432	46307432	-1	no_errors	ENST00000359930	ensembl	human	known	69_37n	missense	52	30.67	23	SNP	1.000	T
TLR4	7099	genome.wustl.edu	37	9	120474783	120474783	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HI-01A-11D-A099-09	TCGA-BH-A0HI-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	507213d0-ef1c-400c-8724-24cd6a39feb8	f3a881a6-bfa4-4dc7-8a41-f5e2b9538b34	g.chr9:120474783C>T	ENST00000355622.6	+	3	478	c.377C>T	c.(376-378)tCa>tTa	p.S126L	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.S86L	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	126					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.S126L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	TCTGGACTATCAAGTTTACAG	0.448																																						dbGAP											1	Substitution - Missense(1)	central_nervous_system(1)											68.0	70.0	69.0					9																	120474783		2203	4300	6503	-	-	-	SO:0001583	missense	0			U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.377C>T	9.37:g.120474783C>T	ENSP00000363089:p.Ser126Leu		A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Missense_Mutation	SNP	pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.S126L	ENST00000355622.6	37	c.377	CCDS6818.1	9	.	.	.	.	.	.	.	.	.	.	C	8.199	0.797684	0.16327	.	.	ENSG00000136869	ENST00000394487;ENST00000355622	T;T	0.58210	0.35;5.41	5.08	3.12	0.35913	.	1.258120	0.05590	N	0.574440	T	0.38374	0.1038	L	0.31294	0.92	0.09310	N	1	B	0.14012	0.009	B	0.16722	0.016	T	0.27331	-1.0077	10	0.17369	T	0.5	.	4.4379	0.11559	0.16:0.5999:0.0:0.24	.	126	O00206	TLR4_HUMAN	L	86;126	ENSP00000377997:S86L;ENSP00000363089:S126L	ENSP00000363089:S126L	S	+	2	0	TLR4	119514604	0.000000	0.05858	0.131000	0.22000	0.947000	0.59692	0.220000	0.17660	1.138000	0.42230	0.655000	0.94253	TCA	TLR4	-	pirsf_Toll-like_receptor	ENSG00000136869		0.448	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR4	HGNC	protein_coding	OTTHUMT00000055549.3	85	0.00	0	C	NM_138554		120474783	120474783	+1	no_errors	ENST00000355622	ensembl	human	known	69_37n	missense	78	12.36	11	SNP	0.000	T
TRBV28	28559	genome.wustl.edu	37	7	142428804	142428804	+	RNA	SNP	G	G	T			TCGA-BH-A0HI-01A-11D-A099-09	TCGA-BH-A0HI-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	507213d0-ef1c-400c-8724-24cd6a39feb8	f3a881a6-bfa4-4dc7-8a41-f5e2b9538b34	g.chr7:142428804G>T	ENST00000390400.2	+	0	184									T cell receptor beta variable 28																		TTCTGGTATCGACAAGACCCA	0.423																																						dbGAP											0													53.0	54.0	54.0					7																	142428804		1836	4090	5926	-	-	-			0			U08314		7q34	2012-02-07			ENSG00000211753	ENSG00000211753		"""T cell receptors / TRB locus"""	12209	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TCRBV28S1, TCRBV3S1			OTTHUMG00000158900		7.37:g.142428804G>T				Missense_Mutation	SNP	pfam_Ig_V-set,pfscan_Ig-like	p.R55L	ENST00000390400.2	37	c.164		7																																																																																			TRBV28	-	pfam_Ig_V-set,pfscan_Ig-like	ENSG00000211753		0.423	TRBV28-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TRBV28	HGNC	TR_V_gene	OTTHUMT00000352512.1	91	0.00	0	G	NG_001333		142428804	142428804	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000390400	ensembl	human	known	69_37n	missense	70	31.37	32	SNP	0.997	T
TRIP11	9321	genome.wustl.edu	37	14	92460257	92460257	+	Splice_Site	SNP	C	C	T			TCGA-BH-A0HI-01A-11D-A099-09	TCGA-BH-A0HI-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	507213d0-ef1c-400c-8724-24cd6a39feb8	f3a881a6-bfa4-4dc7-8a41-f5e2b9538b34	g.chr14:92460257C>T	ENST00000267622.4	-	15	5430		c.e15-1			NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11						protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		GCTTTTTCCTCTAAAGAGAAA	0.303			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)	dbGAP		Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	0													74.0	68.0	70.0					14																	92460257		2202	4297	6499	-	-	-	SO:0001630	splice_region_variant	0			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.5057-1G>A	14.37:g.92460257C>T			B2RUT2|O14689|O15154|O95949	Splice_Site	SNP	-	e15-1	ENST00000267622.4	37	c.5057-1	CCDS9899.1	14	.	.	.	.	.	.	.	.	.	.	C	21.3	4.128578	0.77549	.	.	ENSG00000100815	ENST00000267622;ENST00000542257;ENST00000554357	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1409	0.89639	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TRIP11	91530010	1.000000	0.71417	0.997000	0.53966	0.955000	0.61496	5.970000	0.70431	2.681000	0.91329	0.655000	0.94253	.	TRIP11	-	-	ENSG00000100815		0.303	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIP11	HGNC	protein_coding	OTTHUMT00000411823.1	159	0.00	0	C		Intron	92460257	92460257	-1	no_errors	ENST00000267622	ensembl	human	known	69_37n	splice_site	159	35.37	87	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179427389	179427389	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0HI-01A-11D-A099-09	TCGA-BH-A0HI-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	507213d0-ef1c-400c-8724-24cd6a39feb8	f3a881a6-bfa4-4dc7-8a41-f5e2b9538b34	g.chr2:179427389T>C	ENST00000591111.1	-	276	78771	c.78547A>G	c.(78547-78549)Act>Gct	p.T26183A	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T27824A|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T18951A|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T25256A|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T18884A|TTN_ENST00000460472.2_Missense_Mutation_p.T18759A|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26183	Fibronectin type-III 90. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTCTGAAAGTAGTTTTAGTG	0.363																																						dbGAP											0													125.0	115.0	118.0					2																	179427389		1838	4091	5929	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.78547A>G	2.37:g.179427389T>C	ENSP00000465570:p.Thr26183Ala		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.T25256A	ENST00000591111.1	37	c.75766		2	.	.	.	.	.	.	.	.	.	.	T	7.216	0.596423	0.13875	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58506	0.33;0.33;0.33;0.33	5.85	1.87	0.25490	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.48333	0.1494	L	0.58302	1.8	0.09310	N	1	B;B;B;B	0.12013	0.005;0.005;0.005;0.005	B;B;B;B	0.13407	0.009;0.009;0.009;0.009	T	0.49597	-0.8923	9	0.87932	D	0	.	2.7797	0.05357	0.3328:0.0685:0.1121:0.4866	.	18759;18884;18951;26183	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	A	25256;18759;18951;18884;18757	ENSP00000343764:T25256A;ENSP00000434586:T18759A;ENSP00000340554:T18951A;ENSP00000352154:T18884A	ENSP00000340554:T18951A	T	-	1	0	TTN	179135635	0.746000	0.28272	0.005000	0.12908	0.915000	0.54546	0.563000	0.23547	0.432000	0.26286	0.459000	0.35465	ACT	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.363	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	215	0.46	1	T	NM_133378		179427389	179427389	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	117	13.97	19	SNP	0.048	C
VEZT	55591	genome.wustl.edu	37	12	95645809	95645809	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HI-01A-11D-A099-09	TCGA-BH-A0HI-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	507213d0-ef1c-400c-8724-24cd6a39feb8	f3a881a6-bfa4-4dc7-8a41-f5e2b9538b34	g.chr12:95645809G>A	ENST00000436874.1	+	2	235	c.130G>A	c.(130-132)Gag>Aag	p.E44K	VEZT_ENST00000261219.6_5'UTR|VEZT_ENST00000356859.4_3'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	44					chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						ATGCACAACAGAGGGACAACA	0.393																																						dbGAP											0													100.0	96.0	98.0					12																	95645809		1866	4100	5966	-	-	-	SO:0001583	missense	0			AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.130G>A	12.37:g.95645809G>A	ENSP00000410083:p.Glu44Lys		Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Missense_Mutation	SNP	NULL	p.E44K	ENST00000436874.1	37	c.130	CCDS44954.1	12	.	.	.	.	.	.	.	.	.	.	G	20.4	3.985113	0.74474	.	.	ENSG00000028203	ENST00000436874;ENST00000549002;ENST00000551472;ENST00000552821;ENST00000397796	T;T;T	0.50548	2.33;0.75;0.74	5.76	5.76	0.90799	.	0.406249	0.25055	U	0.033495	T	0.40670	0.1126	M	0.65975	2.015	0.80722	D	1	P;B	0.37688	0.605;0.004	B;B	0.29862	0.108;0.009	T	0.25152	-1.0140	10	0.15499	T	0.54	-11.1071	12.1098	0.53834	0.0796:0.0:0.9203:0.0	.	44;44	C9J154;Q9HBM0	.;VEZA_HUMAN	K	44;44;63;35;44	ENSP00000410083:E44K;ENSP00000449591:E44K;ENSP00000449701:E63K	ENSP00000380898:E44K	E	+	1	0	VEZT	94169940	1.000000	0.71417	0.998000	0.56505	0.618000	0.37518	4.935000	0.63498	2.721000	0.93114	0.655000	0.94253	GAG	VEZT	-	NULL	ENSG00000028203		0.393	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEZT	HGNC	protein_coding	OTTHUMT00000407804.2	134	0.00	0	G	NM_017599		95645809	95645809	+1	no_errors	ENST00000436874	ensembl	human	known	69_37n	missense	116	17.14	24	SNP	0.975	A
ZEB2	9839	genome.wustl.edu	37	2	145158777	145158777	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HI-01A-11D-A099-09	TCGA-BH-A0HI-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	507213d0-ef1c-400c-8724-24cd6a39feb8	f3a881a6-bfa4-4dc7-8a41-f5e2b9538b34	g.chr2:145158777C>T	ENST00000558170.2	-	7	2089	c.905G>A	c.(904-906)cGa>cAa	p.R302Q	ZEB2_ENST00000303660.4_Missense_Mutation_p.R302Q|ZEB2_ENST00000539609.3_Missense_Mutation_p.R278Q|ZEB2_ENST00000409487.3_Missense_Mutation_p.R302Q	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	302					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.R302Q(2)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		ACTGTGAATTCGCAGGTGTTC	0.408																																					Melanoma(33;1235 1264 5755 16332)	dbGAP											2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)											133.0	127.0	129.0					2																	145158777		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.905G>A	2.37:g.145158777C>T	ENSP00000454157:p.Arg302Gln		A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.R302Q	ENST00000558170.2	37	c.905	CCDS2186.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.4|25.4	4.630758|4.630758	0.87660|0.87660	.|.	.|.	ENSG00000169554|ENSG00000169554	ENST00000419938|ENST00000392860;ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902;ENST00000392861	.|T;T;T;T;T	.|0.24723	.|1.84;1.84;1.84;1.84;1.84	5.34|5.34	5.34|5.34	0.76211|0.76211	.|Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.51210|0.51210	0.1661|0.1661	M|M	0.64080|0.64080	1.96|1.96	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;0.999;0.998;0.997	.|D;D;D;D;D	.|0.91635	.|0.999;0.999;0.986;0.992;0.979	T|T	0.52403|0.52403	-0.8580|-0.8580	5|10	.|0.87932	.|D	.|0	-5.1874|-5.1874	19.0474|19.0474	0.93027|0.93027	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|278;167;278;301;302	.|F5H814;Q53TD9;B7Z2P2;A0JP08;O60315	.|.;.;.;.;ZEB2_HUMAN	K|Q	191|297;278;302;302;302;302	.|ENSP00000443792:R278Q;ENSP00000302501:R302Q;ENSP00000386854:R302Q;ENSP00000395496:R302Q;ENSP00000376601:R302Q	.|ENSP00000302501:R302Q	E|R	-|-	1|2	0|0	ZEB2|ZEB2	144875247|144875247	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.818000|7.818000	0.86416|0.86416	2.523000|2.523000	0.85059|0.85059	0.491000|0.491000	0.48974|0.48974	GAA|CGA	ZEB2	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000169554		0.408	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZEB2	HGNC	protein_coding	OTTHUMT00000254778.5	175	0.00	0	C	NM_014795		145158777	145158777	-1	no_errors	ENST00000303660	ensembl	human	known	69_37n	missense	148	28.85	60	SNP	1.000	T
ZNF184	7738	genome.wustl.edu	37	6	27419341	27419341	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HI-01A-11D-A099-09	TCGA-BH-A0HI-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	507213d0-ef1c-400c-8724-24cd6a39feb8	f3a881a6-bfa4-4dc7-8a41-f5e2b9538b34	g.chr6:27419341C>T	ENST00000211936.6	-	6	2281	c.1997G>A	c.(1996-1998)gGg>gAg	p.G666E	ZNF184_ENST00000377419.1_Missense_Mutation_p.G666E	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	666					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GGGCTTCTCCCCAGTGTGAAT	0.418																																						dbGAP											0													98.0	104.0	102.0					6																	27419341		2203	4300	6503	-	-	-	SO:0001583	missense	0			U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.1997G>A	6.37:g.27419341C>T	ENSP00000211936:p.Gly666Glu		B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	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.G666E	ENST00000211936.6	37	c.1997	CCDS4624.1	6	.	.	.	.	.	.	.	.	.	.	C	12.93	2.084991	0.36758	.	.	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	T;T	0.01599	4.74;4.74	4.85	4.85	0.62838	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.48286	D	0.000183	T	0.02380	0.0073	L	0.31371	0.925	0.41890	D	0.990362	D	0.61697	0.99	P	0.58210	0.835	T	0.62627	-0.6814	10	0.87932	D	0	.	15.8458	0.78887	0.0:1.0:0.0:0.0	.	666	Q99676	ZN184_HUMAN	E	666;666;582	ENSP00000211936:G666E;ENSP00000366636:G666E	ENSP00000211936:G666E	G	-	2	0	ZNF184	27527320	0.085000	0.21516	1.000000	0.80357	0.974000	0.67602	1.502000	0.35704	2.696000	0.92011	0.591000	0.81541	GGG	ZNF184	-	pfscan_Znf_C2H2	ENSG00000096654		0.418	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF184	HGNC	protein_coding	OTTHUMT00000040146.1	193	0.00	0	C	NM_007149		27419341	27419341	-1	no_errors	ENST00000211936	ensembl	human	known	69_37n	missense	160	32.77	78	SNP	0.997	T
