#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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
ADCYAP1R1	117	genome.wustl.edu	37	7	31142972	31142973	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr7:31142972_31142973insAA	ENST00000304166.4	+	14	1457_1458	c.1168_1169insAA	c.(1168-1170)tccfs	p.S390fs	ADCYAP1R1_ENST00000409363.1_Frame_Shift_Ins_p.S369fs|ADCYAP1R1_ENST00000396211.2_Frame_Shift_Ins_p.S418fs|ADCYAP1R1_ENST00000409489.1_Frame_Shift_Ins_p.S446fs	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	390					activation of adenylate cyclase activity (GO:0007190)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)|vasoactive intestinal polypeptide receptor activity (GO:0004999)			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GGGGCTGGGCTCCTTCCAGGTA	0.545																																					Ovarian(44;225 1186 2158 11092)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS5433.1, CCDS56480.1, CCDS56481.1	7p14.3	2012-09-20			ENSG00000078549	ENSG00000078549		"""GPCR / Class B : VIP and PACAP (ADCYAP1) receptors"""	242	protein-coding gene	gene with protein product	"""PACAP receptor 1"""	102981				7902709	Standard	NM_001199635		Approved	PAC1, PACAPR, PAC1R	uc003tcg.3	P41586	OTTHUMG00000023884	Exception_encountered	7.37:g.31142972_31142973insAA	ENSP00000306620:p.Ser390fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1Y1|B7ZLA7|B8ZZK3|Q17S10	Frame_Shift_Ins	INS	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_PACAP_1_rcpt,prints_GPCR_2_secretin-like	p.S390fs	ENST00000304166.4	37	c.1168_1169	CCDS5433.1	7																																																																																			ADCYAP1R1	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	ENSG00000078549		0.545	ADCYAP1R1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADCYAP1R1	HGNC	protein_coding	OTTHUMT00000215041.3	53	0.00	0	-	NM_001118		31142972	31142973	+1	no_errors	ENST00000304166	ensembl	human	known	69_37n	frame_shift_ins	22	31.25	10	INS	1.000:1.000	AA
ATP8B4	79895	genome.wustl.edu	37	15	50273432	50273432	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr15:50273432C>G	ENST00000284509.6	-	11	949	c.808G>C	c.(808-810)Gat>Cat	p.D270H	RNA5SP394_ENST00000364216.1_RNA|ATP8B4_ENST00000559829.1_Missense_Mutation_p.D270H|ATP8B4_ENST00000558959.1_5'UTR	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	270						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ATCAATCTATCAATGCTTGTC	0.313																																						dbGAP											0													191.0	173.0	179.0					15																	50273432		2195	4295	6490	-	-	-	SO:0001583	missense	0			AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.808G>C	15.37:g.50273432C>G	ENSP00000284509:p.Asp270His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H727	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.D270H	ENST00000284509.6	37	c.808	CCDS32238.1	15	.	.	.	.	.	.	.	.	.	.	C	26.9	4.777823	0.90195	.	.	ENSG00000104043	ENST00000284509	D	0.89196	-2.48	5.52	5.52	0.82312	ATPase, P-type, ATPase-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.96300	0.8793	H	0.95574	3.69	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97169	0.9843	10	0.87932	D	0	.	17.2804	0.87127	0.0:1.0:0.0:0.0	.	270	Q8TF62	AT8B4_HUMAN	H	270	ENSP00000284509:D270H	ENSP00000284509:D270H	D	-	1	0	ATP8B4	48060724	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.739000	0.93911	0.655000	0.94253	GAT	ATP8B4	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl	ENSG00000104043		0.313	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B4	HGNC	protein_coding	OTTHUMT00000418100.1	186	0.00	0	C	NM_024837		50273432	50273432	-1	no_errors	ENST00000284509	ensembl	human	known	69_37n	missense	63	49.60	62	SNP	1.000	G
AXIN1	8312	genome.wustl.edu	37	16	396819	396820	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr16:396819_396820insA	ENST00000262320.3	-	2	577_578	c.206_207insT	c.(205-207)gggfs	p.G69fs	AXIN1_ENST00000481769.1_Intron|AXIN1_ENST00000354866.3_Frame_Shift_Ins_p.G69fs	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	69					activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CAGGCTCATACCCCAGGTCCAG	0.594											OREG0003698	type=REGULATORY REGION|Gene=AXIN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	903	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 49"""	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.206_207insT	16.37:g.396819_396820insA	ENSP00000262320:p.Gly69fs	Somatic	588	WXS	Illumina GAIIx	Phase_IV	Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Frame_Shift_Ins	INS	pfam_DIX,pfam_Regulat_G_prot_signal,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.Y70fs	ENST00000262320.3	37	c.207_206	CCDS10405.1	16																																																																																			AXIN1	-	NULL	ENSG00000103126		0.594	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AXIN1	HGNC	protein_coding	OTTHUMT00000139441.3	9	0.00	0	-			396819	396820	-1	no_errors	ENST00000262320	ensembl	human	known	69_37n	frame_shift_ins	29	65.88	56	INS	0.967:1.000	A
AXIN1	8312	genome.wustl.edu	37	16	396824	396825	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr16:396824_396825insAA	ENST00000262320.3	-	2	572_573	c.201_202insTT	c.(199-204)gacctgfs	p.L68fs	AXIN1_ENST00000481769.1_Intron|AXIN1_ENST00000354866.3_Frame_Shift_Ins_p.L68fs	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	68					activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				TCATACCCCAGGTCCAGATCCG	0.599											OREG0003698	type=REGULATORY REGION|Gene=AXIN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	903	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 49"""	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.201_202insTT	16.37:g.396824_396825insAA	ENSP00000262320:p.Leu68fs	Somatic	588	WXS	Illumina GAIIx	Phase_IV	Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Frame_Shift_Ins	INS	pfam_DIX,pfam_Regulat_G_prot_signal,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.L67fs	ENST00000262320.3	37	c.202_201	CCDS10405.1	16																																																																																			AXIN1	-	NULL	ENSG00000103126		0.599	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AXIN1	HGNC	protein_coding	OTTHUMT00000139441.3	10	0.00	0	-			396824	396825	-1	no_errors	ENST00000262320	ensembl	human	known	69_37n	frame_shift_ins	18	74.65	53	INS	1.000:1.000	AA
BEST1	7439	genome.wustl.edu	37	11	61719427	61719428	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr11:61719427_61719428insC	ENST00000378043.4	+	2	792_793	c.149_150insC	c.(148-153)tataggfs	p.R51fs	BEST1_ENST00000449131.2_Intron|BEST1_ENST00000301774.9_Intron|BEST1_ENST00000378042.3_5'UTR|BEST1_ENST00000435278.2_Frame_Shift_Ins_p.R51fs|BEST1_ENST00000534553.1_Intron	NM_004183.3	NP_004174.1	O76090	BEST1_HUMAN	bestrophin 1	51					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|detection of light stimulus involved in visual perception (GO:0050908)|ion transmembrane transport (GO:0034220)|regulation of calcium ion transport (GO:0051924)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	basolateral plasma membrane (GO:0016323)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						CGCTTTATTTATAGGTAAAGCT	0.604																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF057170	CCDS31580.1, CCDS44623.1	11q12	2013-02-14	2006-10-18	2006-10-18	ENSG00000167995	ENSG00000167995		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	12703	protein-coding gene	gene with protein product	"""Best disease"""	607854	"""vitelliform macular dystrophy 2"""	VMD2		1302019, 17003041	Standard	NM_004183		Approved	BMD, BEST, RP50	uc001nsr.2	O76090	OTTHUMG00000167469	Exception_encountered	11.37:g.61719427_61719428insC	ENSP00000367282:p.Arg51fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0W6|B7Z3J8|B7Z736|O75904|Q53YQ9|Q8IUR9|Q8IZ80	Frame_Shift_Ins	INS	pfam_Bestrophin/UPF0187	p.R51fs	ENST00000378043.4	37	c.149_150	CCDS31580.1	11																																																																																			BEST1	-	pfam_Bestrophin/UPF0187	ENSG00000167995		0.604	BEST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEST1	HGNC	protein_coding	OTTHUMT00000394715.1	43	0.00	0	-	NM_004183		61719427	61719428	+1	no_errors	ENST00000378043	ensembl	human	known	69_37n	frame_shift_ins	47	29.85	20	INS	1.000:0.994	C
BRMS1	25855	genome.wustl.edu	37	11	66107594	66107594	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr11:66107594G>C	ENST00000359957.3	-	7	786	c.626C>G	c.(625-627)tCt>tGt	p.S209C	BRMS1_ENST00000425825.2_Missense_Mutation_p.S209C|RP11-867G23.12_ENST00000526655.1_RNA	NM_015399.3	NP_056214.1	Q9HCU9	BRMS1_HUMAN	breast cancer metastasis suppressor 1	209					apoptotic process (GO:0006915)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of anoikis (GO:2000210)|positive regulation of protein deacetylation (GO:0090312)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)			large_intestine(1)|liver(1)|lung(1)|prostate(1)|skin(1)	5						AAGGATACCAGAAACCAGAGG	0.592																																					GBM(7;55 307 2662 20856 28942)	dbGAP											0													73.0	68.0	69.0					11																	66107594		2200	4295	6495	-	-	-	SO:0001583	missense	0			AF147350	CCDS8135.1, CCDS44654.1	11q13-q13.2	2008-02-05				ENSG00000174744			17262	protein-coding gene	gene with protein product		606259				10850410	Standard	XM_005273883		Approved	DKFZP564A063	uc001oho.1	Q9HCU9		ENST00000359957.3:c.626C>G	11.37:g.66107594G>C	ENSP00000353042:p.Ser209Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IAI2	Missense_Mutation	SNP	pfam_Sds3	p.S209C	ENST00000359957.3	37	c.626	CCDS8135.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.9|22.9	4.349692|4.349692	0.82132|0.82132	.|.	.|.	ENSG00000174744|ENSG00000174744	ENST00000524699|ENST00000425825;ENST00000359957;ENST00000530756	.|.	.|.	.|.	5.02|5.02	5.02|5.02	0.67125|0.67125	.|.	.|0.272209	.|0.34725	.|N	.|0.003732	T|T	0.76162|0.76162	0.3949|0.3949	M|M	0.62723|0.62723	1.935|1.935	0.58432|0.58432	D|D	0.999997|0.999997	.|D;D	.|0.71674	.|0.996;0.998	.|D;D	.|0.70016	.|0.951;0.967	T|T	0.79067|0.79067	-0.1955|-0.1955	5|9	.|0.87932	.|D	.|0	-29.0317|-29.0317	15.8077|15.8077	0.78527|0.78527	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|209;209	.|Q9HCU9;G5E9I4	.|BRMS1_HUMAN;.	L|C	171|209	.|.	.|ENSP00000353042:S209C	F|S	-|-	3|2	2|0	BRMS1|BRMS1	65864170|65864170	1.000000|1.000000	0.71417|0.71417	0.987000|0.987000	0.45799|0.45799	0.984000|0.984000	0.73092|0.73092	6.149000|6.149000	0.71795|0.71795	2.329000|2.329000	0.79093|0.79093	0.462000|0.462000	0.41574|0.41574	TTC|TCT	BRMS1	-	pfam_Sds3	ENSG00000174744		0.592	BRMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRMS1	HGNC	protein_coding	OTTHUMT00000392958.2	10	0.00	0	G	NM_015399		66107594	66107594	-1	no_errors	ENST00000425825	ensembl	human	known	69_37n	missense	5	58.33	7	SNP	1.000	C
BRWD3	254065	genome.wustl.edu	37	X	79990631	79990631	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chrX:79990631C>T	ENST00000373275.4	-	10	1196	c.980G>A	c.(979-981)aGt>aAt	p.S327N		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	327					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CATACCAGAACTGAAAGATGA	0.348																																						dbGAP											0													72.0	64.0	67.0					X																	79990631		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.980G>A	X.37:g.79990631C>T	ENSP00000362372:p.Ser327Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.S327N	ENST00000373275.4	37	c.980	CCDS14447.1	X	.	.	.	.	.	.	.	.	.	.	C	28.1	4.890458	0.91889	.	.	ENSG00000165288	ENST00000373275	T	0.60424	0.19	5.06	5.06	0.68205	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.77818	0.4187	M	0.83953	2.67	0.54753	D	0.999985	D	0.64830	0.994	D	0.70016	0.967	T	0.80259	-0.1457	9	.	.	.	-15.8783	17.641	0.88136	0.0:1.0:0.0:0.0	.	327	Q6RI45	BRWD3_HUMAN	N	327	ENSP00000362372:S327N	.	S	-	2	0	BRWD3	79877287	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.704000	0.74639	2.352000	0.79861	0.544000	0.68410	AGT	BRWD3	-	pfam_WD40_repeat,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000165288		0.348	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD3	HGNC	protein_coding	OTTHUMT00000057344.1	171	0.00	0	C	NM_153252		79990631	79990631	-1	no_errors	ENST00000373275	ensembl	human	known	69_37n	missense	145	32.87	71	SNP	1.000	T
CBFB	865	genome.wustl.edu	37	16	67070595	67070595	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr16:67070595G>A	ENST00000290858.6	+	3	480	c.219G>A	c.(217-219)tgG>tgA	p.W73*	CBFB_ENST00000561924.2_5'UTR|CBFB_ENST00000412916.2_Nonsense_Mutation_p.W73*	NM_001755.2|NM_022845.2	NP_001746.1|NP_074036.1	Q13951	PEBB_HUMAN	core-binding factor, beta subunit	73					cell maturation (GO:0048469)|definitive hemopoiesis (GO:0060216)|lymphocyte differentiation (GO:0030098)|myeloid cell differentiation (GO:0030099)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|large_intestine(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066)		CGGCCAGCTGGCAGGGAGAAC	0.443			T	MYH11	AML																																	dbGAP		Dom	yes		16	16q22	865	"""core-binding factor, beta subunit"""		L	0													85.0	85.0	85.0					16																	67070595		2200	4300	6500	-	-	-	SO:0001587	stop_gained	0			BC018509	CCDS10827.1, CCDS45508.1	16q22.1	2008-02-05			ENSG00000067955	ENSG00000067955			1539	protein-coding gene	gene with protein product		121360				8351518, 7587111	Standard	NM_001755		Approved	PEBP2B	uc002erb.3	Q13951	OTTHUMG00000137520	ENST00000290858.6:c.219G>A	16.37:g.67070595G>A	ENSP00000290858:p.Trp73*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K347|Q13124|Q9HCT2	Nonsense_Mutation	SNP	pfam_CBF_beta,superfamily_CBF_beta	p.W73*	ENST00000290858.6	37	c.219	CCDS10827.1	16	.	.	.	.	.	.	.	.	.	.	G	37	6.269932	0.97431	.	.	ENSG00000067955	ENST00000290858;ENST00000412916	.	.	.	5.05	5.05	0.67936	.	0.070105	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-14.3663	17.3257	0.87246	0.0:0.0:1.0:0.0	.	.	.	.	X	73	.	ENSP00000290858:W73X	W	+	3	0	CBFB	65628096	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.147000	0.58078	2.498000	0.84270	0.561000	0.74099	TGG	CBFB	-	pfam_CBF_beta,superfamily_CBF_beta	ENSG00000067955		0.443	CBFB-001	KNOWN	basic|CCDS	protein_coding	CBFB	HGNC	protein_coding	OTTHUMT00000268843.2	90	0.00	0	G	NM_001755		67070595	67070595	+1	no_errors	ENST00000290858	ensembl	human	known	69_37n	nonsense	30	76.19	96	SNP	1.000	A
CD97	976	genome.wustl.edu	37	19	14518758	14518759	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr19:14518758_14518759insG	ENST00000242786.5	+	19	2495_2496	c.2415_2416insG	c.(2416-2418)gggfs	p.G806fs	DDX39A_ENST00000592927.1_5'Flank|CD97_ENST00000357355.3_Frame_Shift_Ins_p.G757fs|CD97_ENST00000358600.3_Frame_Shift_Ins_p.G713fs|CTC-548K16.5_ENST00000590626.1_RNA	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	806					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)	p.S808fs*>28(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GCCTAGTTGCTGGGGGGAGCAA	0.653																																						dbGAP											1	Deletion - Frameshift(1)	large_intestine(1)																																								-	-	-	SO:0001589	frameshift_variant	0				CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	1711	protein-coding gene	gene with protein product	"""leukocyte antigen CD97"", ""seven-span transmembrane protein"", ""seven-transmembrane, heterodimeric receptor associated with inflammation"", ""seven transmembrane helix receptor"""	601211	"""CD97 antigen"""			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.2421dupG	19.37:g.14518764_14518764dupG	ENSP00000242786:p.Gly806fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Frame_Shift_Ins	INS	pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,pfam_EGF-like_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_secretin-like,prints_GPCR_2_EMR1_rcpt	p.S807fs	ENST00000242786.5	37	c.2415_2416	CCDS32929.1	19																																																																																			CD97	-	NULL	ENSG00000123146		0.653	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CD97	HGNC	protein_coding	OTTHUMT00000459821.2	8	0.00	0	-	NM_078481		14518758	14518759	+1	no_errors	ENST00000242786	ensembl	human	known	69_37n	frame_shift_ins	6	25.00	2	INS	0.000:0.000	G
CDH1	999	genome.wustl.edu	37	16	68856129	68856129	+	Splice_Site	SNP	G	G	A			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr16:68856129G>A	ENST00000261769.5	+	12	2127		c.e12+1		CDH1_ENST00000562836.1_Splice_Site|RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000422392.2_Splice_Site	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)						adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		AACGACCCAAGTGGGTACCTG	0.488			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													dbGAP	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	0													72.0	60.0	64.0					16																	68856129		2198	4300	6498	-	-	-	SO:0001630	splice_region_variant	0	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.1936+1G>A	16.37:g.68856129G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Splice_Site	SNP	-	e12+1	ENST00000261769.5	37	c.1936+1	CCDS10869.1	16	.	.	.	.	.	.	.	.	.	.	G	12.73	2.025419	0.35701	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000422392	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4194	0.90584	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDH1	67413630	1.000000	0.71417	0.540000	0.28089	0.048000	0.14542	7.958000	0.87877	2.697000	0.92050	0.632000	0.83419	.	CDH1	-	-	ENSG00000039068		0.488	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	199	0.00	0	G	NM_004360	Intron	68856129	68856129	+1	no_errors	ENST00000261769	ensembl	human	known	69_37n	splice_site	94	52.53	104	SNP	0.996	A
CHL1	10752	genome.wustl.edu	37	3	370003	370003	+	Silent	SNP	C	C	T			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr3:370003C>T	ENST00000256509.2	+	5	993	c.351C>T	c.(349-351)atC>atT	p.I117I	CHL1_ENST00000397491.2_Silent_p.I117I	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AACTGGGAATCGCTATGTCAG	0.363																																						dbGAP											0													103.0	106.0	105.0					3																	370003		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.351C>T	3.37:g.370003C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.I117	ENST00000256509.2	37	c.351	CCDS2556.1	3																																																																																			CHL1	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000134121		0.363	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHL1	HGNC	protein_coding	OTTHUMT00000207155.2	247	0.00	0	C	NM_006614		370003	370003	+1	no_errors	ENST00000256509	ensembl	human	known	69_37n	silent	211	40.56	144	SNP	0.622	T
CLEC11A	6320	genome.wustl.edu	37	19	51226792	51226792	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr19:51226792G>A	ENST00000250340.4	+	1	207	c.10G>A	c.(10-12)Gcc>Acc	p.A4T	CLEC11A_ENST00000599973.1_Missense_Mutation_p.A4T	NM_002975.2	NP_002966.1	Q9Y240	CLC11_HUMAN	C-type lectin domain family 11, member A	4					positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)			kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	7		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		AATGCAGGCAGCCTGGCTTTT	0.647																																						dbGAP											0													76.0	77.0	77.0					19																	51226792		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF087658	CCDS12800.1	19q13.3	2010-04-27	2005-02-09	2005-02-11		ENSG00000105472		"""C-type lectin domain containing"""	10576	protein-coding gene	gene with protein product		604713	"""stem cell growth factor; lymphocyte secreted C-type lectin"""	SCGF		9207134, 9442024	Standard	NM_002975		Approved	P47, LSLCL, CLECSF3	uc002psy.3	Q9Y240		ENST00000250340.4:c.10G>A	19.37:g.51226792G>A	ENSP00000250340:p.Ala4Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAD4	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.A4T	ENST00000250340.4	37	c.10	CCDS12800.1	19	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224743	0.79576	.	.	ENSG00000105472	ENST00000250340;ENST00000445858	T	0.53640	0.61	3.24	3.24	0.37175	.	0.000000	0.33477	N	0.004875	T	0.38241	0.1033	L	0.27053	0.805	0.26860	N	0.967987	P	0.51057	0.941	P	0.46389	0.515	T	0.29912	-0.9996	10	0.87932	D	0	-19.9724	10.16	0.42847	0.0:0.0:1.0:0.0	.	4	Q9Y240	CLC11_HUMAN	T	4	ENSP00000250340:A4T	ENSP00000250340:A4T	A	+	1	0	CLEC11A	55918604	1.000000	0.71417	1.000000	0.80357	0.898000	0.52572	3.893000	0.56243	1.830000	0.53286	0.462000	0.41574	GCC	CLEC11A	-	NULL	ENSG00000105472		0.647	CLEC11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC11A	HGNC	protein_coding	OTTHUMT00000464062.1	35	0.00	0	G	NM_002975		51226792	51226792	+1	no_errors	ENST00000250340	ensembl	human	known	69_37n	missense	27	38.64	17	SNP	1.000	A
CLTC	1213	genome.wustl.edu	37	17	57746199	57746199	+	Silent	SNP	A	A	G			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr17:57746199A>G	ENST00000269122.3	+	14	2464	c.2190A>G	c.(2188-2190)aaA>aaG	p.K730K	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Silent_p.K730K	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	730	Heavy chain arm.|Proximal segment.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TGCACTTTAAATATATTCAGG	0.378			T	"""ALK, TFE3"""	"""ALCL, renal """																																	dbGAP		Dom	yes		17	17q11-qter	1213	"""clathrin, heavy polypeptide (Hc)"""		L	0													112.0	108.0	109.0					17																	57746199		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.2190A>G	17.37:g.57746199A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DU00|Q6N0A0|Q86TF2	Silent	SNP	pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	p.K730	ENST00000269122.3	37	c.2190	CCDS32696.1	17																																																																																			CLTC	-	pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	ENSG00000141367		0.378	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLTC	HGNC	protein_coding	OTTHUMT00000258859.1	142	0.00	0	A	NM_004859		57746199	57746199	+1	no_errors	ENST00000269122	ensembl	human	known	69_37n	silent	166	31.97	78	SNP	1.000	G
CRTAC1	55118	genome.wustl.edu	37	10	99696026	99696026	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr10:99696026G>A	ENST00000370597.3	-	3	677	c.322C>T	c.(322-324)Cgg>Tgg	p.R108W	CRTAC1_ENST00000370591.2_Missense_Mutation_p.R108W|CRTAC1_ENST00000298819.4_Missense_Mutation_p.R108W	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	108						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		TGCCGGTCCCGCAGCGCGTAG	0.622																																						dbGAP											0													67.0	55.0	59.0					10																	99696026		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.322C>T	10.37:g.99696026G>A	ENSP00000359629:p.Arg108Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Missense_Mutation	SNP	pfam_FG-GAP,pfam_UnbV_ASPIC,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd	p.R108W	ENST00000370597.3	37	c.322	CCDS31266.1	10	.	.	.	.	.	.	.	.	.	.	G	17.08	3.296502	0.60086	.	.	ENSG00000095713	ENST00000413387;ENST00000370597;ENST00000298819;ENST00000309155;ENST00000370591	T;T;T;T;T	0.77750	1.21;-1.12;1.21;-0.27;-0.28	4.76	2.81	0.32909	.	0.000000	0.85682	D	0.000000	D	0.88020	0.6325	M	0.84683	2.71	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.91635	0.985;0.999	D	0.88248	0.2914	10	0.66056	D	0.02	-13.623	13.087	0.59146	0.0:0.0:0.6979:0.3021	.	108;108	Q9NQ79-2;Q9NQ79	.;CRAC1_HUMAN	W	4;108;108;100;108	ENSP00000408445:R4W;ENSP00000359629:R108W;ENSP00000298819:R108W;ENSP00000310810:R100W;ENSP00000359623:R108W	ENSP00000298819:R108W	R	-	1	2	CRTAC1	99686016	1.000000	0.71417	1.000000	0.80357	0.389000	0.30415	4.186000	0.58337	0.385000	0.24970	0.313000	0.20887	CGG	CRTAC1	-	NULL	ENSG00000095713		0.622	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	CRTAC1	HGNC	protein_coding	OTTHUMT00000049754.1	56	0.00	0	G	NM_018058		99696026	99696026	-1	no_errors	ENST00000370597	ensembl	human	known	69_37n	missense	54	25.00	18	SNP	1.000	A
CRYM	1428	genome.wustl.edu	37	16	21288757	21288757	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr16:21288757G>T	ENST00000219599.3	-	4	584	c.319C>A	c.(319-321)Ctg>Atg	p.L107M	CRYM_ENST00000574787.1_5'Flank|CRYM_ENST00000396023.2_Missense_Mutation_p.L107M|CRYM_ENST00000415987.2_Missense_Mutation_p.L65M|CRYM_ENST00000543948.1_Missense_Mutation_p.L107M	NM_001888.3	NP_001879.1	Q14894	CRYM_HUMAN	crystallin, mu	107					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|sensory perception of sound (GO:0007605)|thyroid hormone metabolic process (GO:0042403)|thyroid hormone transport (GO:0070327)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|thiomorpholine-carboxylate dehydrogenase activity (GO:0047127)|thyroid hormone binding (GO:0070324)|transcription corepressor activity (GO:0003714)			large_intestine(1)|lung(3)	4				GBM - Glioblastoma multiforme(48;0.0573)		CTCACCGCCAGCAGGGTGCCA	0.597																																						dbGAP											0													46.0	38.0	41.0					16																	21288757		2199	4300	6499	-	-	-	SO:0001583	missense	0				CCDS10597.1	16p12.2	2013-02-14			ENSG00000103316	ENSG00000103316	1.5.1.25		2418	protein-coding gene	gene with protein product	"""thiomorpholine-carboxylate dehydrogenase"""	123740				1478656, 21332720	Standard	NM_001014444		Approved	DFNA40	uc002dim.3	Q14894	OTTHUMG00000090707	ENST00000219599.3:c.319C>A	16.37:g.21288757G>T	ENSP00000219599:p.Leu107Met	Somatic		WXS	Illumina GAIIx	Phase_IV	D5MNX0|Q5HYB7	Missense_Mutation	SNP	pfam_ODC_Mu_crystall,pfam_Shikm_DH/Glu-tRNA_Rdtase,pfam_6PGDH_NADP-bd,pfam_NADP_OxRdtase_F420	p.L107M	ENST00000219599.3	37	c.319	CCDS10597.1	16	.	.	.	.	.	.	.	.	.	.	G	16.94	3.260800	0.59431	.	.	ENSG00000103316	ENST00000543948;ENST00000219599;ENST00000396023;ENST00000415987	T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.31	4.68	4.68	0.58851	.	0.318126	0.27464	N	0.019252	D	0.87462	0.6183	M	0.83223	2.63	0.29397	N	0.862214	P	0.48998	0.918	P	0.59424	0.857	D	0.83518	0.0084	10	0.48119	T	0.1	2.384	10.2464	0.43343	0.0:0.0:0.6972:0.3028	.	107	Q14894	CRYM_HUMAN	M	107;107;107;65	ENSP00000440227:L107M;ENSP00000219599:L107M;ENSP00000379341:L107M;ENSP00000390928:L65M	ENSP00000219599:L107M	L	-	1	2	CRYM	21196258	0.962000	0.33011	1.000000	0.80357	0.992000	0.81027	1.396000	0.34531	2.394000	0.81467	0.563000	0.77884	CTG	CRYM	-	pfam_ODC_Mu_crystall	ENSG00000103316		0.597	CRYM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYM	HGNC	protein_coding	OTTHUMT00000207398.1	27	0.00	0	G			21288757	21288757	-1	no_errors	ENST00000219599	ensembl	human	known	69_37n	missense	24	45.45	20	SNP	1.000	T
CSGALNACT1	55790	genome.wustl.edu	37	8	19315248	19315248	+	Intron	SNP	T	T	A			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr8:19315248T>A	ENST00000454498.2	-	5	1865				CSGALNACT1_ENST00000311540.4_Intron|CSGALNACT1_ENST00000518542.1_5'UTR|CSGALNACT1_ENST00000544602.1_Intron|CSGALNACT1_ENST00000332246.6_Intron|CSGALNACT1_ENST00000522854.1_Intron	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1						anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		TATGTGCATCTGAGCCATCAC	0.393																																						dbGAP											0													32.0	28.0	29.0					8																	19315248		876	1991	2867	-	-	-	SO:0001627	intron_variant	0			AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408		"""Beta 4-glycosyltransferases"""	24290	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase"""					17145758, 12446672	Standard	NM_018371		Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.851+688A>T	8.37:g.19315248T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	RNA	SNP	-	NULL	ENST00000454498.2	37	NULL	CCDS6010.1	8																																																																																			CSGALNACT1	-	-	ENSG00000147408		0.393	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CSGALNACT1	HGNC	protein_coding	OTTHUMT00000375204.1	125	0.00	0	T	NM_018371		19315248	19315248	-1	no_errors	ENST00000518542	ensembl	human	known	69_37n	rna	60	34.78	32	SNP	0.001	A
CYP4B1	1580	genome.wustl.edu	37	1	47279655	47279655	+	Missense_Mutation	SNP	A	A	C			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr1:47279655A>C	ENST00000271153.4	+	6	728	c.692A>C	c.(691-693)tAc>tCc	p.Y231S	CYP4B1_ENST00000371923.4_Missense_Mutation_p.Y232S|CYP4B1_ENST00000452782.2_Missense_Mutation_p.Y69S|CYP4B1_ENST00000371919.4_Missense_Mutation_p.Y217S			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	231					biphenyl metabolic process (GO:0018879)|exogenous drug catabolic process (GO:0042738)|fluorene metabolic process (GO:0018917)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|fluorene oxygenase activity (GO:0018585)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)				Midazolam(DB00683)|Phenobarbital(DB01174)|Thiamine(DB00152)	TCCTTCCAGTACCATAATGAC	0.582																																						dbGAP											0													183.0	162.0	169.0					1																	47279655		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC017758	CCDS542.1, CCDS41328.1	1p33	2013-11-11	2003-01-14		ENSG00000142973	ENSG00000142973		"""Cytochrome P450s"""	2644	protein-coding gene	gene with protein product		124075	"""cytochrome P450, subfamily IVB, polypeptide 1"""				Standard	NM_000779		Approved		uc001cqn.4	P13584	OTTHUMG00000007984	ENST00000271153.4:c.692A>C	1.37:g.47279655A>C	ENSP00000271153:p.Tyr231Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q1HBI2|Q8TD85|Q8WWF2|Q8WWU9|Q8WWV0	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II	p.Y232S	ENST00000271153.4	37	c.695	CCDS542.1	1	.	.	.	.	.	.	.	.	.	.	A	15.76	2.928447	0.52759	.	.	ENSG00000142973	ENST00000371923;ENST00000271153;ENST00000371919;ENST00000526297;ENST00000452782;ENST00000468637	T;T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;0.79;-0.33;-0.33	5.26	5.26	0.73747	.	0.121237	0.64402	D	0.000019	T	0.77445	0.4131	M	0.71296	2.17	0.48511	D	0.999666	D;D;D;D	0.76494	0.998;0.999;0.98;0.984	D;D;P;D	0.75020	0.973;0.985;0.864;0.916	T	0.78879	-0.2030	10	0.59425	D	0.04	.	7.6856	0.28538	0.7185:0.1518:0.0:0.1296	.	69;217;232;231	E7EME6;Q8IZB0;P13584-2;P13584	.;.;.;CP4B1_HUMAN	S	232;231;217;69;69;68	ENSP00000360991:Y232S;ENSP00000271153:Y231S;ENSP00000360987:Y217S;ENSP00000438995:Y69S;ENSP00000400413:Y69S;ENSP00000437670:Y68S	ENSP00000271153:Y231S	Y	+	2	0	CYP4B1	47052242	1.000000	0.71417	1.000000	0.80357	0.379000	0.30106	4.748000	0.62148	1.990000	0.58119	0.402000	0.26972	TAC	CYP4B1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000142973		0.582	CYP4B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CYP4B1	HGNC	protein_coding	OTTHUMT00000021911.1	155	0.00	0	A	NM_000779		47279655	47279655	+1	no_errors	ENST00000371923	ensembl	human	known	69_37n	missense	105	31.37	48	SNP	1.000	C
DDX53	168400	genome.wustl.edu	37	X	23019754	23019754	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chrX:23019754T>G	ENST00000327968.5	+	1	1668	c.1580T>G	c.(1579-1581)gTa>gGa	p.V527G	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	527	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|RNA binding (GO:0003723)			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						ACTGATATAGTATCCCGAGGT	0.383																																						dbGAP											0													123.0	114.0	117.0					X																	23019754		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY039237	CCDS35214.1	Xp22.13	2009-03-25			ENSG00000184735	ENSG00000184735		"""DEAD-boxes"""	20083	protein-coding gene	gene with protein product	"""cancer associated gene"", ""cancer/testis antigen 26"""						Standard	NM_182699		Approved	CAGE, CT26	uc004daj.3	Q86TM3	OTTHUMG00000021248	ENST00000327968.5:c.1580T>G	X.37:g.23019754T>G	ENSP00000368667:p.Val527Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0D2N2|Q6NVV4	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_KH_dom_type_1,smart_KH_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_KH_dom_type_1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.V527G	ENST00000327968.5	37	c.1580	CCDS35214.1	X	.	.	.	.	.	.	.	.	.	.	T	12.13	1.845181	0.32606	.	.	ENSG00000184735	ENST00000327968	T	0.75260	-0.92	4.32	2.44	0.29823	Helicase, C-terminal (3);	0.111957	0.64402	N	0.000012	T	0.51924	0.1703	N	0.08118	0	0.46096	D	0.99886	B	0.25235	0.121	B	0.27380	0.079	T	0.44065	-0.9352	10	0.87932	D	0	-4.212	6.4883	0.22101	0.0:0.7076:0.1804:0.112	.	527	Q86TM3	DDX53_HUMAN	G	527	ENSP00000368667:V527G	ENSP00000368667:V527G	V	+	2	0	DDX53	22929675	1.000000	0.71417	0.001000	0.08648	0.000000	0.00434	3.053000	0.49901	0.222000	0.20900	-0.287000	0.09952	GTA	DDX53	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C	ENSG00000184735		0.383	DDX53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX53	HGNC	protein_coding	OTTHUMT00000056043.1	381	0.00	0	T	NM_182699		23019754	23019754	+1	no_errors	ENST00000327968	ensembl	human	known	69_37n	missense	142	45.59	119	SNP	0.992	G
DCAF12L1	139170	genome.wustl.edu	37	X	125685656	125685656	+	Silent	SNP	C	C	G			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chrX:125685656C>G	ENST00000371126.1	-	1	1178	c.936G>C	c.(934-936)ctG>ctC	p.L312L		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	312										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CACAGTAGGTCAGGCACACAT	0.587																																						dbGAP											0													69.0	62.0	64.0					X																	125685656		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.936G>C	X.37:g.125685656C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IYK3	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L312	ENST00000371126.1	37	c.936	CCDS14610.1	X																																																																																			DCAF12L1	-	superfamily_WD40_repeat_dom	ENSG00000198889		0.587	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF12L1	HGNC	protein_coding	OTTHUMT00000058186.1	30	0.00	0	C	NM_178470		125685656	125685656	-1	no_errors	ENST00000371126	ensembl	human	known	69_37n	silent	7	50.00	7	SNP	1.000	G
DENND1B	163486	genome.wustl.edu	37	1	197479779	197479779	+	IGR	SNP	A	A	T			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr1:197479779A>T								CRB1 (32194 upstream) : DENND1B (41605 downstream)																							GTATAAGCAGATCATCTGAAA	0.448																																						dbGAP											0													140.0	126.0	131.0					1																	197479779		2203	4300	6503	-	-	-	SO:0001628	intergenic_variant	0																															1.37:g.197479779A>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.D353E		37	c.1059		1	.	.	.	.	.	.	.	.	.	.	A	19.92	3.915610	0.73098	.	.	ENSG00000213047	ENST00000391979;ENST00000542760;ENST00000450419	T	0.35236	1.32	5.43	0.494	0.16884	.	0.263818	0.28964	U	0.013566	T	0.34803	0.0910	L	0.55481	1.735	0.80722	D	1	D	0.60575	0.988	P	0.50659	0.647	T	0.09443	-1.0674	10	0.33940	T	0.23	.	5.214	0.15332	0.6392:0.1405:0.2202:0.0	.	713	Q6P3S1-5	.	E	353;713;693	ENSP00000375839:D353E	ENSP00000375839:D353E	D	-	3	2	DENND1B	195746402	0.496000	0.26059	0.172000	0.22920	0.037000	0.13140	0.212000	0.17497	0.110000	0.17919	0.460000	0.39030	GAT	DENND1B	-	NULL	ENSG00000213047	0	0.448					DENND1B	HGNC			367	0.00	0	A			197479779	197479779	-1	no_start_codon	ENST00000391979	ensembl	human	putative	69_37n	missense	384	19.96	96	SNP	0.855	T
DGAT2L6	347516	genome.wustl.edu	37	X	69397492	69397492	+	Silent	SNP	A	A	G			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chrX:69397492A>G	ENST00000333026.3	+	1	160	c.60A>G	c.(58-60)caA>caG	p.Q20Q		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	20					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						TTGTTTTGCAATGGATCCCAG	0.488													a|||	1	0.000264901	0.0	0.0014	3775	,	,		13349	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													115.0	97.0	103.0					X																	69397492		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK129500	CCDS14397.1	Xq13.1	2008-02-05			ENSG00000184210	ENSG00000184210			23250	protein-coding gene	gene with protein product		300926				15671038	Standard	NM_198512		Approved	DC3, FLJ25989	uc004dxx.1	Q6ZPD8	OTTHUMG00000021774	ENST00000333026.3:c.60A>G	X.37:g.69397492A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IEE2	Silent	SNP	pfam_DAGAT	p.Q20	ENST00000333026.3	37	c.60	CCDS14397.1	X																																																																																			DGAT2L6	-	NULL	ENSG00000184210		0.488	DGAT2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGAT2L6	HGNC	protein_coding	OTTHUMT00000057067.1	229	0.00	0	A	NM_198512		69397492	69397492	+1	no_errors	ENST00000333026	ensembl	human	known	69_37n	silent	143	30.58	63	SNP	0.000	G
DST	667	genome.wustl.edu	37	6	56330983	56330983	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr6:56330983G>T	ENST00000361203.3	-	94	21627	c.21620C>A	c.(21619-21621)tCc>tAc	p.S7207Y	DST_ENST00000370754.5_Missense_Mutation_p.S7496Y|DST_ENST00000370788.2_Missense_Mutation_p.S5121Y|DST_ENST00000446842.2_Missense_Mutation_p.S6992Y|DST_ENST00000244364.6_Missense_Mutation_p.S4904Y|DST_ENST00000370769.4_Missense_Mutation_p.S7318Y|DST_ENST00000421834.2_Missense_Mutation_p.S5203Y|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	7316	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CAGTTGCTGGGAGTCTCCAAA	0.443																																						dbGAP											0													50.0	52.0	52.0					6																	56330983		2019	4231	6250	-	-	-	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.21620C>A	6.37:g.56330983G>T	ENSP00000354508:p.Ser7207Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.S7496Y	ENST00000361203.3	37	c.22487		6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.6|20.6	4.014794|4.014794	0.75161|0.75161	.|.	.|.	ENSG00000151914|ENSG00000151914	ENST00000523292|ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	.|T;T;T;T;T;T;T	.|0.70516	.|0.47;-0.46;-0.48;-0.47;0.47;-0.42;-0.49	5.8|5.8	5.8|5.8	0.92144|0.92144	.|Growth-arrest-specific protein 2 domain (5);	.|0.000000	.|0.53938	.|D	.|0.000046	D|D	0.84597|0.84597	0.5507|0.5507	M|M	0.83483|0.83483	2.645|2.645	.|.	.|.	.|.	.|D;D;D;D;D	.|0.89917	.|0.999;1.0;0.999;1.0;1.0	.|D;D;D;D;D	.|0.97110	.|0.998;1.0;0.998;0.999;0.999	D|D	0.85719|0.85719	0.1324|0.1324	4|9	.|0.87932	.|D	.|0	.|.	20.0586|20.0586	0.97663|0.97663	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|5203;7318;7496;7316;4904	.|Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.|.;.;.;DYST_HUMAN;.	T|Y	29|4904;7496;7318;5203;6992;5121;7207	.|ENSP00000244364:S4904Y;ENSP00000359790:S7496Y;ENSP00000359805:S7318Y;ENSP00000400883:S5203Y;ENSP00000393645:S6992Y;ENSP00000359824:S5121Y;ENSP00000354508:S7207Y	.|ENSP00000244364:S4904Y	P|S	-|-	1|2	0|0	DST|DST	56438942|56438942	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.869000|9.869000	0.99810|0.99810	2.741000|2.741000	0.93983|0.93983	0.650000|0.650000	0.86243|0.86243	CCC|TCC	DST	-	pfam_GAS2_dom,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_GAS2_dom	ENSG00000151914		0.443	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	101	0.00	0	G	NM_001723		56330983	56330983	-1	no_errors	ENST00000370754	ensembl	human	known	69_37n	missense	70	32.69	34	SNP	1.000	T
DSTYK	25778	genome.wustl.edu	37	1	205116809	205116809	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr1:205116809C>G	ENST00000367162.3	-	13	2697	c.2667G>C	c.(2665-2667)tgG>tgC	p.W889C	DSTYK_ENST00000367160.4_Missense_Mutation_p.W548C|DSTYK_ENST00000367161.3_Missense_Mutation_p.W844C	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	889	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						GGTCGCCATCCCAACAGGCTT	0.542																																						dbGAP											0													122.0	121.0	121.0					1																	205116809		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"""receptor interacting protein kinase 5"""	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.2667G>C	1.37:g.205116809C>G	ENSP00000356130:p.Trp889Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Missense_Mutation	SNP	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	p.W889C	ENST00000367162.3	37	c.2667	CCDS1451.1	1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.734266	0.89482	.	.	ENSG00000133059	ENST00000367160;ENST00000367161;ENST00000367162	T;T;T	0.65916	-0.18;1.93;-0.18	6.0	6.0	0.97389	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.058824	0.85682	D	0.000000	D	0.82273	0.5001	M	0.82433	2.59	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.83394	0.0019	10	0.87932	D	0	-14.1247	20.09	0.97815	0.0:1.0:0.0:0.0	.	844;889	Q6XUX3-2;Q6XUX3	.;DUSTY_HUMAN	C	548;844;889	ENSP00000356128:W548C;ENSP00000356129:W844C;ENSP00000356130:W889C	ENSP00000356128:W548C	W	-	3	0	DSTYK	203383432	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.463000	0.80869	2.848000	0.98002	0.655000	0.94253	TGG	DSTYK	-	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	ENSG00000133059		0.542	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSTYK	HGNC	protein_coding	OTTHUMT00000090345.1	156	0.00	0	C	NM_015375		205116809	205116809	-1	no_errors	ENST00000367162	ensembl	human	known	69_37n	missense	286	15.63	53	SNP	1.000	G
EFCAB5	374786	genome.wustl.edu	37	17	28380487	28380487	+	Silent	SNP	G	G	T			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr17:28380487G>T	ENST00000394835.3	+	10	1707	c.1515G>T	c.(1513-1515)ccG>ccT	p.P505P	EFCAB5_ENST00000536908.2_Silent_p.P449P|EFCAB5_ENST00000541045.1_Silent_p.P162P|EFCAB5_ENST00000378738.3_Silent_p.P505P|EFCAB5_ENST00000394832.2_Silent_p.P505P|EFCAB5_ENST00000320856.5_Silent_p.P505P	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	505							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CACCAAACCCGCCAGAACAGC	0.403																																						dbGAP											0													95.0	99.0	97.0					17																	28380487		1952	4149	6101	-	-	-	SO:0001819	synonymous_variant	0			AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.1515G>T	17.37:g.28380487G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Missense_Mutation	SNP	pfscan_EF_HAND_2	p.A304S	ENST00000394835.3	37	c.910	CCDS11254.2	17																																																																																			EFCAB5	-	NULL	ENSG00000176927		0.403	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB5	HGNC	protein_coding	OTTHUMT00000256120.4	447	0.00	0	G	NM_198529		28380487	28380487	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000588978	ensembl	human	novel	69_37n	missense	298	37.58	180	SNP	0.007	T
EPDR1	54749	genome.wustl.edu	37	7	37960286	37960286	+	5'UTR	DEL	A	A	-			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr7:37960286delA	ENST00000199448.4	+	0	124				EPDR1_ENST00000423717.1_5'UTR|EPDR1_ENST00000476620.1_Intron|EPDR1_ENST00000425345.1_5'Flank|EPDR1_ENST00000559325.1_Frame_Shift_Del_p.A36fs	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1						cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						AGGCAGTGGCAGCAGGCAGTG	0.637																																						dbGAP											0													19.0	24.0	22.0					7																	37960286		2203	4300	6503	-	-	-	SO:0001623	5_prime_UTR_variant	0			BC018299	CCDS5454.1, CCDS5454.2, CCDS59051.1, CCDS59052.1	7p14.1	2013-07-31	2013-07-31		ENSG00000086289	ENSG00000086289			17572	protein-coding gene	gene with protein product			"""ependymin related protein 1 (zebrafish)"""			11749721, 11248421	Standard	NM_001242946		Approved	MERP-1, MERP1, UCC1, EPDR	uc003tfp.4	Q9UM22	OTTHUMG00000102187	ENST00000199448.4:c.-256A>-	7.37:g.37960286delA		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4C0|C9JYS3|Q06BL0|Q99M77	Frame_Shift_Del	DEL	pfam_Ependymin,smart_Ependymin,prints_Ependymin	p.A36fs	ENST00000199448.4	37	c.105	CCDS5454.2	7																																																																																			EPDR1	-	NULL	ENSG00000086289		0.637	EPDR1-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	EPDR1	HGNC	protein_coding	OTTHUMT00000220037.3	12	0.00	0	A	NM_017549		37960286	37960286	+1	no_errors	ENST00000559325	ensembl	human	known	69_37n	frame_shift_del	4	33.33	2	DEL	0.042	-
FAM47C	442444	genome.wustl.edu	37	X	37028375	37028375	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chrX:37028375G>A	ENST00000358047.3	+	1	1944	c.1892G>A	c.(1891-1893)cGc>cAc	p.R631H		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	631										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCCCATCTCCGCCCAGAGCCT	0.637																																						dbGAP											0													30.0	35.0	33.0					X																	37028375		2147	4213	6360	-	-	-	SO:0001583	missense	0			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1892G>A	X.37:g.37028375G>A	ENSP00000367913:p.Arg631His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZU46	Missense_Mutation	SNP	NULL	p.R631H	ENST00000358047.3	37	c.1892	CCDS35227.1	X	.	.	.	.	.	.	.	.	.	.	-	10.60	1.394681	0.25205	.	.	ENSG00000198173	ENST00000358047	T	0.15834	2.39	1.67	-3.33	0.04958	.	.	.	.	.	T	0.07098	0.0180	N	0.10685	0.025	0.09310	N	1	P	0.37781	0.608	B	0.37387	0.248	T	0.29792	-1.0000	9	0.39692	T	0.17	.	5.1076	0.14793	0.1894:0.5823:0.2283:0.0	.	631	Q5HY64	FA47C_HUMAN	H	631	ENSP00000367913:R631H	ENSP00000367913:R631H	R	+	2	0	FAM47C	36938296	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-2.462000	0.00997	-0.572000	0.06006	0.414000	0.27820	CGC	FAM47C	-	NULL	ENSG00000198173		0.637	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47C	HGNC	protein_coding	OTTHUMT00000060508.1	233	0.00	0	G	NM_001013736		37028375	37028375	+1	no_errors	ENST00000358047	ensembl	human	known	69_37n	missense	81	55.68	103	SNP	0.024	A
FAT3	120114	genome.wustl.edu	37	11	92531848	92531851	+	Frame_Shift_Del	DEL	CTAT	CTAT	-	rs573703666	byFrequency	TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	CTAT	CTAT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr11:92531848_92531851delCTAT	ENST00000298047.6	+	9	5686_5689	c.5669_5672delCTAT	c.(5668-5673)actatcfs	p.TI1890fs	FAT3_ENST00000409404.2_Frame_Shift_Del_p.TI1890fs|FAT3_ENST00000525166.1_Frame_Shift_Del_p.TI1740fs			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1890	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTGTTTGAGACTATCTTACTTCTA	0.471										TCGA Ovarian(4;0.039)																												dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.5669_5672delCTAT	11.37:g.92531848_92531851delCTAT	ENSP00000298047:p.Thr1890fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDB0|Q96AU6	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.I1891fs	ENST00000298047.6	37	c.5669_5672		11																																																																																			FAT3	-	superfamily_Cadherin-like	ENSG00000165323		0.471	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		95	0.00	0	CTAT	NM_001008781		92531848	92531851	+1	no_errors	ENST00000298047	ensembl	human	known	69_37n	frame_shift_del	68	40.87	47	DEL	1.000:0.033:0.511:0.941	-
FCGBP	8857	genome.wustl.edu	37	19	40367763	40367763	+	Silent	SNP	A	A	G			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr19:40367763A>G	ENST00000221347.6	-	29	13204	c.13197T>C	c.(13195-13197)gcT>gcC	p.A4399A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4399	TIL 10.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CACAGCGGTCAGCACTTAACA	0.647																																						dbGAP											0													7.0	11.0	10.0					19																	40367763		1937	3808	5745	-	-	-	SO:0001819	synonymous_variant	0			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.13197T>C	19.37:g.40367763A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O95784	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_VWF_C,smart_VWC_out	p.A4399	ENST00000221347.6	37	c.13197	CCDS12546.1	19																																																																																			FCGBP	-	pfam_TIL_dom,superfamily_TIL_dom,smart_EGF-like	ENSG00000090920		0.647	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	8	0.00	0	A	NM_003890		40367763	40367763	-1	no_errors	ENST00000221347	ensembl	human	known	69_37n	silent	4	55.56	5	SNP	0.000	G
FLNC	2318	genome.wustl.edu	37	7	128486940	128486941	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr7:128486940_128486941insG	ENST00000325888.8	+	24	4530_4531	c.4269_4270insG	c.(4270-4272)gggfs	p.G1424fs	FLNC_ENST00000346177.6_Frame_Shift_Ins_p.G1424fs	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1424					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						ACATCACCTTCGGGGGGCGGCC	0.599																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.4275dupG	7.37:g.128486946_128486946dupG	ENSP00000327145:p.Gly1424fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Frame_Shift_Ins	INS	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.R1425fs	ENST00000325888.8	37	c.4269_4270	CCDS43644.1	7																																																																																			FLNC	-	pfam_Filamin/ABP280_repeat-like,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000128591		0.599	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	HGNC	protein_coding	OTTHUMT00000059948.3	23	0.00	0	-			128486940	128486941	+1	no_errors	ENST00000325888	ensembl	human	known	69_37n	frame_shift_ins	23	11.54	3	INS	0.939:1.000	G
FMR1NB	158521	genome.wustl.edu	37	X	147084783	147084783	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chrX:147084783C>T	ENST00000370467.3	+	2	414	c.340C>T	c.(340-342)Caa>Taa	p.Q114*		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	114						integral component of membrane (GO:0016021)|nucleolus (GO:0005730)				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					TGCTCATGGCCAATCTCTGGA	0.358																																						dbGAP											0													127.0	120.0	123.0					X																	147084783		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS14683.1	Xq28	2009-03-25			ENSG00000176988	ENSG00000176988			26372	protein-coding gene	gene with protein product	"""cancer/testis antigen 37"""					12601173	Standard	NM_152578		Approved	FLJ25736, NY-SAR-35, CT37	uc004fcm.3	Q8N0W7	OTTHUMG00000022608	ENST00000370467.3:c.340C>T	X.37:g.147084783C>T	ENSP00000359498:p.Gln114*	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DWT3	Nonsense_Mutation	SNP	superfamily_P_trefoil	p.Q114*	ENST00000370467.3	37	c.340	CCDS14683.1	X	.	.	.	.	.	.	.	.	.	.	C	15.30	2.792002	0.50102	.	.	ENSG00000176988	ENST00000370467	.	.	.	4.94	0.355	0.16069	.	0.654215	0.12705	N	0.446058	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-1.1454	8.1066	0.30890	0.0:0.3001:0.5914:0.1084	.	.	.	.	X	114	.	ENSP00000359498:Q114X	Q	+	1	0	FMR1NB	146892475	0.002000	0.14202	0.000000	0.03702	0.013000	0.08279	0.270000	0.18607	0.083000	0.17047	0.594000	0.82650	CAA	FMR1NB	-	NULL	ENSG00000176988		0.358	FMR1NB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMR1NB	HGNC	protein_coding	OTTHUMT00000058667.1	290	0.00	0	C	NM_152578		147084783	147084783	+1	no_errors	ENST00000370467	ensembl	human	known	69_37n	nonsense	323	33.47	163	SNP	0.000	T
FOXN1	8456	genome.wustl.edu	37	17	26861801	26861801	+	Silent	SNP	G	G	A			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr17:26861801G>A	ENST00000226247.2	+	7	1241	c.1212G>A	c.(1210-1212)ctG>ctA	p.L404L	FOXN1_ENST00000579795.1_Silent_p.L404L	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	404					defense response (GO:0006952)|epidermis development (GO:0008544)|epithelial cell proliferation (GO:0050673)|hair follicle development (GO:0001942)|keratinocyte differentiation (GO:0030216)|lymphocyte homeostasis (GO:0002260)|nail development (GO:0035878)|organ morphogenesis (GO:0009887)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CCCCTGGGCTGTCCGGCTCAG	0.642																																						dbGAP											0													18.0	21.0	20.0					17																	26861801		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			Y11739	CCDS11232.1	17q11-q12	2014-09-17	2003-06-12	2003-06-13	ENSG00000109101	ENSG00000109101		"""Forkhead boxes"""	12765	protein-coding gene	gene with protein product		600838	"""winged-helix nude"", ""Rowett nude"""	WHN, RONU		9321431	Standard	NM_003593		Approved	FKHL20	uc002hbj.3	O15353	OTTHUMG00000132603	ENST00000226247.2:c.1212G>A	17.37:g.26861801G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9Q7|O15352	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.L404	ENST00000226247.2	37	c.1212	CCDS11232.1	17																																																																																			FOXN1	-	NULL	ENSG00000109101		0.642	FOXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXN1	HGNC	protein_coding	OTTHUMT00000255832.1	18	0.00	0	G			26861801	26861801	+1	no_errors	ENST00000226247	ensembl	human	known	69_37n	silent	12	53.85	14	SNP	0.806	A
GUCA1C	9626	genome.wustl.edu	37	3	108639378	108639378	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr3:108639378C>G	ENST00000261047.3	-	2	391	c.259G>C	c.(259-261)Gaa>Caa	p.E87Q	GUCA1C_ENST00000471108.1_Missense_Mutation_p.E87Q|GUCA1C_ENST00000393963.3_Missense_Mutation_p.E87Q	NM_005459.3	NP_005450.3	O95843	GUC1C_HUMAN	guanylate cyclase activator 1C	87	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				phototransduction, visible light (GO:0007603)|positive regulation of guanylate cyclase activity (GO:0031284)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	calcium ion binding (GO:0005509)|calcium sensitive guanylate cyclase activator activity (GO:0008048)			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						TCCATTTTTTCTTGCATGATT	0.299																																					NSCLC(157;1360 1999 30631 40189 44208)	dbGAP											0													79.0	77.0	77.0					3																	108639378		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF110002	CCDS2954.1	3q13.1	2013-01-10			ENSG00000138472	ENSG00000138472		"""EF-hand domain containing"""	4680	protein-coding gene	gene with protein product	"""guanylyl cyclase-activating protein 3"""	605128				10037746, 11860507	Standard	NM_005459		Approved	GCAP3	uc003dxj.2	O95843	OTTHUMG00000159204	ENST00000261047.3:c.259G>C	3.37:g.108639378C>G	ENSP00000261047:p.Glu87Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	O95844|Q9UNM0	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin	p.E87Q	ENST00000261047.3	37	c.259	CCDS2954.1	3	.	.	.	.	.	.	.	.	.	.	C	15.37	2.812452	0.50527	.	.	ENSG00000138472	ENST00000393963;ENST00000261047;ENST00000471108	T;T;T	0.42513	0.97;0.97;0.97	5.17	4.29	0.51040	EF-hand-like domain (1);	0.166750	0.53938	N	0.000056	T	0.20129	0.0484	N	0.08118	0	0.26515	N	0.974527	P;P	0.41524	0.74;0.753	B;B	0.31290	0.127;0.05	T	0.21586	-1.0241	10	0.87932	D	0	.	11.9715	0.53065	0.0:0.9119:0.0:0.0881	.	87;87	C9JNI2;O95843	.;GUC1C_HUMAN	Q	87	ENSP00000377535:E87Q;ENSP00000261047:E87Q;ENSP00000417761:E87Q	ENSP00000261047:E87Q	E	-	1	0	GUCA1C	110122068	1.000000	0.71417	0.795000	0.32087	0.764000	0.43329	4.218000	0.58554	2.415000	0.81967	0.591000	0.81541	GAA	GUCA1C	-	pfscan_EF_HAND_2,prints_Recoverin	ENSG00000138472		0.299	GUCA1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCA1C	HGNC	protein_coding	OTTHUMT00000353819.1	174	0.00	0	C	NM_005459		108639378	108639378	-1	no_errors	ENST00000261047	ensembl	human	known	69_37n	missense	129	34.01	67	SNP	0.998	G
GFM1	85476	genome.wustl.edu	37	3	158370027	158370027	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr3:158370027G>T	ENST00000486715.1	+	6	1189	c.832G>T	c.(832-834)Gat>Tat	p.D278Y	GFM1_ENST00000478576.1_Missense_Mutation_p.D278Y|GFM1_ENST00000264263.5_Missense_Mutation_p.D297Y	NM_024996.5	NP_079272.4			G elongation factor, mitochondrial 1											breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CTCGATTTCTGATTTAAAGGC	0.413																																						dbGAP											0													59.0	65.0	63.0					3																	158370027		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF309777	CCDS33885.1	3q25	2008-02-05			ENSG00000168827	ENSG00000168827			13780	protein-coding gene	gene with protein product		606639	"""G translation elongation factor, mitochondrial"""			11374907, 11735030	Standard	NM_024996		Approved	EFGM, GFM, EGF1	uc003fce.3	Q96RP9	OTTHUMG00000158804	ENST00000486715.1:c.832G>T	3.37:g.158370027G>T	ENSP00000419038:p.Asp278Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_ProtSyn_GTP-bd,tigrfam_Transl_elong_EFG/EF2,tigrfam_Small_GTP-bd_dom	p.D278Y	ENST00000486715.1	37	c.832	CCDS33885.1	3	.	.	.	.	.	.	.	.	.	.	G	24.8	4.572783	0.86542	.	.	ENSG00000168827	ENST00000486715;ENST00000478576;ENST00000264263;ENST00000312756	T;T;T	0.73897	-0.79;-0.79;-0.79	5.63	5.63	0.86233	Protein synthesis factor, GTP-binding (1);	0.051858	0.85682	D	0.000000	D	0.88459	0.6442	M	0.86573	2.825	0.80722	D	1	D;D;D	0.71674	0.997;0.994;0.998	D;D;D	0.72075	0.976;0.976;0.976	D	0.89847	0.4007	10	0.87932	D	0	-23.1709	19.2887	0.94090	0.0:0.0:1.0:0.0	.	297;278;278	Q96RP9-2;Q96RP9;C9IZ01	.;EFGM_HUMAN;.	Y	278;278;297;12	ENSP00000419038:D278Y;ENSP00000418755:D278Y;ENSP00000264263:D297Y	ENSP00000264263:D297Y	D	+	1	0	GFM1	159852721	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	7.263000	0.78421	2.665000	0.90641	0.655000	0.94253	GAT	GFM1	-	pfam_ProtSyn_GTP-bd,tigrfam_Transl_elong_EFG/EF2	ENSG00000168827		0.413	GFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFM1	HGNC	protein_coding	OTTHUMT00000352271.1	229	0.00	0	G	NM_024996		158370027	158370027	+1	no_errors	ENST00000486715	ensembl	human	known	69_37n	missense	160	33.05	79	SNP	1.000	T
HECTD1	25831	genome.wustl.edu	37	14	31605846	31605846	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr14:31605846C>T	ENST00000399332.1	-	20	3493	c.3005G>A	c.(3004-3006)cGg>cAg	p.R1002Q	HECTD1_ENST00000553700.1_Missense_Mutation_p.R1002Q	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1002					neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		ACGTTCCAACCGAAATCGTAA	0.398																																						dbGAP											0													142.0	134.0	137.0					14																	31605846		1925	4126	6051	-	-	-	SO:0001583	missense	0			AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.3005G>A	14.37:g.31605846C>T	ENSP00000382269:p.Arg1002Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT	p.R1002Q	ENST00000399332.1	37	c.3005	CCDS41939.1	14	.	.	.	.	.	.	.	.	.	.	C	36	5.727040	0.96847	.	.	ENSG00000092148	ENST00000553700;ENST00000261312;ENST00000399332;ENST00000553957	T;T;T	0.45276	0.9;0.9;1.36	4.95	4.95	0.65309	.	0.000000	0.64402	U	0.000001	T	0.63616	0.2526	M	0.76170	2.325	0.80722	D	1	D;D	0.76494	0.999;0.994	D;P	0.63597	0.916;0.885	T	0.64605	-0.6368	10	0.42905	T	0.14	-6.9311	18.5549	0.91080	0.0:1.0:0.0:0.0	.	1002;1002	D3DS86;Q9ULT8	.;HECD1_HUMAN	Q	1002;1004;1002;476	ENSP00000450697:R1002Q;ENSP00000382269:R1002Q;ENSP00000451860:R476Q	ENSP00000261312:R1004Q	R	-	2	0	HECTD1	30675597	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.758000	0.85224	2.447000	0.82792	0.557000	0.71058	CGG	HECTD1	-	NULL	ENSG00000092148		0.398	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD1	HGNC	protein_coding	OTTHUMT00000409942.1	207	0.00	0	C			31605846	31605846	-1	no_errors	ENST00000399332	ensembl	human	known	69_37n	missense	164	33.20	82	SNP	1.000	T
HECW1	23072	genome.wustl.edu	37	7	43591930	43591930	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr7:43591930G>A	ENST00000395891.2	+	28	5110	c.4505G>A	c.(4504-4506)cGg>cAg	p.R1502Q	HECW1_ENST00000453890.1_Missense_Mutation_p.R1468Q	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	1502	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ACTGAGTACCGGGGAGGTGAG	0.478																																						dbGAP											0													86.0	91.0	89.0					7																	43591930		2028	4174	6202	-	-	-	SO:0001583	missense	0			AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.4505G>A	7.37:g.43591930G>A	ENSP00000379228:p.Arg1502Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.R1502Q	ENST00000395891.2	37	c.4505	CCDS5469.2	7	.	.	.	.	.	.	.	.	.	.	G	37	6.008838	0.97195	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.56941	0.43;0.43	5.81	5.81	0.92471	HECT (4);	0.058126	0.64402	D	0.000001	T	0.69333	0.3099	M	0.63428	1.95	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.60012	0.743;0.867	T	0.70741	-0.4789	10	0.87932	D	0	.	20.0628	0.97684	0.0:0.0:1.0:0.0	.	1468;1502	B4DH42;Q76N89	.;HECW1_HUMAN	Q	1502;1468;1502	ENSP00000379228:R1502Q;ENSP00000407774:R1468Q	ENSP00000265522:R1502Q	R	+	2	0	HECW1	43558455	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.414000	0.97362	2.745000	0.94114	0.655000	0.94253	CGG	HECW1	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000002746		0.478	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW1	HGNC	protein_coding	OTTHUMT00000250893.2	148	0.67	1	G	NM_015052		43591930	43591930	+1	no_errors	ENST00000395891	ensembl	human	known	69_37n	missense	113	36.87	66	SNP	1.000	A
HMCN1	83872	genome.wustl.edu	37	1	186014957	186014957	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr1:186014957C>G	ENST00000271588.4	+	41	6671	c.6442C>G	c.(6442-6444)Cca>Gca	p.P2148A	HMCN1_ENST00000367492.2_Missense_Mutation_p.P2148A	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2148	Ig-like C2-type 19.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GCTGAAGAAACCAGGCCTCAG	0.383																																						dbGAP											0													114.0	110.0	112.0					1																	186014957		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.6442C>G	1.37:g.186014957C>G	ENSP00000271588:p.Pro2148Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.P2148A	ENST00000271588.4	37	c.6442	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.124707	0.77436	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.39229	1.09;1.09	5.35	4.43	0.53597	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.55353	0.1915	L	0.58810	1.83	0.53688	D	0.999979	D	0.89917	1.0	D	0.87578	0.998	T	0.46665	-0.9175	10	0.16896	T	0.51	.	11.776	0.51985	0.0:0.8609:0.0:0.1391	.	2148	Q96RW7	HMCN1_HUMAN	A	2148	ENSP00000271588:P2148A;ENSP00000356462:P2148A	ENSP00000271588:P2148A	P	+	1	0	HMCN1	184281580	0.997000	0.39634	1.000000	0.80357	0.996000	0.88848	2.812000	0.47994	2.500000	0.84329	0.650000	0.86243	CCA	HMCN1	-	pfam_Ig_I-set,smart_Ig_V-set_subgr,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000143341		0.383	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	152	0.00	0	C	NM_031935		186014957	186014957	+1	no_errors	ENST00000271588	ensembl	human	known	69_37n	missense	196	17.65	42	SNP	1.000	G
IDO2	169355	genome.wustl.edu	37	8	39872802	39872802	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr8:39872802C>A	ENST00000389060.4	+	10	905	c.905C>A	c.(904-906)cCt>cAt	p.P302H	IDO2_ENST00000502986.2_Missense_Mutation_p.P315H|IDO2_ENST00000343295.4_3'UTR			Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	302					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						TACATGCCTCCTTCCCATAAG	0.468																																						dbGAP											0													89.0	83.0	85.0					8																	39872802		1991	4173	6164	-	-	-	SO:0001583	missense	0			AK128691		8p11.21	2012-04-19	2009-01-07	2009-01-07	ENSG00000188676	ENSG00000188676			27269	protein-coding gene	gene with protein product		612129	"""indoleamine-pyrrole 2,3 dioxygenase-like 1"""	INDOL1			Standard	NM_194294		Approved		uc010lwy.1	Q6ZQW0	OTTHUMG00000141271	ENST00000389060.4:c.905C>A	8.37:g.39872802C>A	ENSP00000426447:p.Pro302His	Somatic		WXS	Illumina GAIIx	Phase_IV	A4UD41	Missense_Mutation	SNP	pfam_Indolamine_dOase	p.P315H	ENST00000389060.4	37	c.944		8	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168036	0.78339	.	.	ENSG00000188676	ENST00000502986;ENST00000389060	T;T	0.49139	0.79;0.79	5.91	5.04	0.67666	.	0.159126	0.56097	D	0.000026	T	0.69459	0.3113	M	0.82132	2.575	0.51233	D	0.999913	D;D	0.89917	1.0;1.0	D;D	0.83275	0.995;0.996	T	0.72795	-0.4185	9	.	.	.	.	14.0525	0.64747	0.0:0.9279:0.0:0.0721	.	315;302	F5H5G0;Q6ZQW0	.;I23O2_HUMAN	H	315;302	ENSP00000443432:P315H;ENSP00000426447:P302H	.	P	+	2	0	IDO2	39991959	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	4.155000	0.58131	1.487000	0.48415	0.655000	0.94253	CCT	IDO2	-	pfam_Indolamine_dOase	ENSG00000188676		0.468	IDO2-004	KNOWN	basic|appris_principal	protein_coding	IDO2	HGNC	protein_coding	OTTHUMT00000372742.1	203	0.00	0	C	NM_194294		39872802	39872802	+1	no_errors	ENST00000502986	ensembl	human	known	69_37n	missense	202	18.55	46	SNP	1.000	A
ITPR1	3708	genome.wustl.edu	37	3	4730242	4730242	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr3:4730242G>A	ENST00000443694.2	+	28	3721	c.3721G>A	c.(3721-3723)Gca>Aca	p.A1241T	ITPR1_ENST00000456211.2_Missense_Mutation_p.A1232T|ITPR1_ENST00000423119.2_Missense_Mutation_p.A1247T|ITPR1_ENST00000354582.6_Missense_Mutation_p.A1256T|ITPR1_ENST00000302640.8_Missense_Mutation_p.A1241T|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000357086.4_Missense_Mutation_p.A1247T			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1256					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|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)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	GAATTTCTGCGCAGGCAACCA	0.453																																						dbGAP											0													106.0	105.0	105.0					3																	4730242		1905	4124	6029	-	-	-	SO:0001583	missense	0			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.3721G>A	3.37:g.4730242G>A	ENSP00000401671:p.Ala1241Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.A1241T	ENST00000443694.2	37	c.3721	CCDS54551.1	3	.	.	.	.	.	.	.	.	.	.	G	18.94	3.729228	0.69074	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.95377	-3.69;-3.69;-3.69;-3.69;-3.69;-3.69	5.39	5.39	0.77823	Intracellular calcium-release channel (1);	0.050707	0.85682	D	0.000000	D	0.93012	0.7776	L	0.29908	0.895	0.80722	D	1	D;B	0.55172	0.97;0.28	P;B	0.46389	0.515;0.133	D	0.91381	0.5127	10	0.19590	T	0.45	.	19.1808	0.93622	0.0:0.0:1.0:0.0	.	1256;1247	Q14643;G5E9P1	ITPR1_HUMAN;.	T	1256;1241;1256;1247;1247;1232;1241	ENSP00000306253:A1241T;ENSP00000346595:A1256T;ENSP00000405934:A1247T;ENSP00000349597:A1247T;ENSP00000397885:A1232T;ENSP00000401671:A1241T	ENSP00000306253:A1241T	A	+	1	0	ITPR1	4705242	1.000000	0.71417	0.745000	0.31077	0.979000	0.70002	6.638000	0.74309	2.518000	0.84900	0.655000	0.94253	GCA	ITPR1	-	pfam_Ca-rel_channel	ENSG00000150995		0.453	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	ITPR1	HGNC	protein_coding	OTTHUMT00000337982.3	406	0.25	1	G	NM_002222		4730242	4730242	+1	no_errors	ENST00000302640	ensembl	human	known	69_37n	missense	228	37.02	134	SNP	0.998	A
KEAP1	9817	genome.wustl.edu	37	19	10600498	10600499	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr19:10600498_10600499insT	ENST00000171111.5	-	4	1903_1904	c.1356_1357insA	c.(1354-1359)ttggtgfs	p.V453fs	CTC-429L19.3_ENST00000592671.1_RNA|KEAP1_ENST00000393623.2_Frame_Shift_Ins_p.V453fs|KEAP1_ENST00000588024.1_5'Flank	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	453					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	ATTGGGGCCACCAAGTGCCACT	0.554																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.1356_1357insA	19.37:g.10600498_10600499insT	ENSP00000171111:p.Val453fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Frame_Shift_Ins	INS	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.V452fs	ENST00000171111.5	37	c.1357_1356	CCDS12239.1	19																																																																																			KEAP1	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000079999		0.554	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KEAP1	HGNC	protein_coding	OTTHUMT00000452000.1	24	0.00	0	-	NM_012289		10600498	10600499	-1	no_errors	ENST00000171111	ensembl	human	known	69_37n	frame_shift_ins	14	22.22	4	INS	1.000:1.000	T
KEAP1	9817	genome.wustl.edu	37	19	10600502	10600502	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr19:10600502delG	ENST00000171111.5	-	4	1900	c.1353delC	c.(1351-1353)cacfs	p.H451fs	CTC-429L19.3_ENST00000592671.1_RNA|KEAP1_ENST00000393623.2_Frame_Shift_Del_p.H451fs|KEAP1_ENST00000588024.1_5'Flank	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	451					cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	GGGCCACCAAGTGCCACTCAT	0.552																																						dbGAP											0													51.0	43.0	46.0					19																	10600502		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.1353delC	19.37:g.10600502delG	ENSP00000171111:p.His451fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Frame_Shift_Del	DEL	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.L452fs	ENST00000171111.5	37	c.1353	CCDS12239.1	19																																																																																			KEAP1	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000079999		0.552	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KEAP1	HGNC	protein_coding	OTTHUMT00000452000.1	24	0.00	0	G	NM_012289		10600502	10600502	-1	no_errors	ENST00000171111	ensembl	human	known	69_37n	frame_shift_del	11	23.53	4	DEL	0.990	-
KIF13A	63971	genome.wustl.edu	37	6	17781438	17781438	+	Nonsense_Mutation	SNP	G	G	C			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr6:17781438G>C	ENST00000259711.6	-	30	3744	c.3639C>G	c.(3637-3639)taC>taG	p.Y1213*	KIF13A_ENST00000378826.2_Nonsense_Mutation_p.Y1213*|KIF13A_ENST00000378843.2_Nonsense_Mutation_p.Y1200*|KIF13A_ENST00000378816.5_Nonsense_Mutation_p.Y1213*|KIF13A_ENST00000378814.5_Nonsense_Mutation_p.Y1200*	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1213					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TGATGGGCAGGTAGAAAAACT	0.512																																						dbGAP											0													97.0	98.0	98.0					6																	17781438		1937	4146	6083	-	-	-	SO:0001587	stop_gained	0			AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.3639C>G	6.37:g.17781438G>C	ENSP00000259711:p.Tyr1213*	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Nonsense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.Y1213*	ENST00000259711.6	37	c.3639	CCDS47381.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	41|41	8.564375|8.564375	0.98866|0.98866	.|.	.|.	ENSG00000137177|ENSG00000137177	ENST00000358380|ENST00000378814;ENST00000502297;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816;ENST00000506044	.|.	.|.	.|.	5.29|5.29	4.4|4.4	0.53042|0.53042	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.29288|.	0.0729|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.08126|.	-1.0737|.	3|.	.|0.16896	.|T	.|0.51	.|.	10.2892|10.2892	0.43586|0.43586	0.1583:0.0:0.8417:0.0|0.1583:0.0:0.8417:0.0	.|.	.|.	.|.	.|.	S|X	607|1200;217;1213;1213;1200;1213;211	.|.	.|ENSP00000259711:Y1213X	T|Y	-|-	2|3	0|2	KIF13A|KIF13A	17889417|17889417	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	2.211000|2.211000	0.42825|0.42825	2.634000|2.634000	0.89283|0.89283	0.561000|0.561000	0.74099|0.74099	ACC|TAC	KIF13A	-	pfam_Kinesin-like	ENSG00000137177		0.512	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF13A	HGNC	protein_coding	OTTHUMT00000039954.4	108	0.00	0	G			17781438	17781438	-1	no_errors	ENST00000259711	ensembl	human	known	69_37n	nonsense	101	21.09	27	SNP	1.000	C
KLC4	89953	genome.wustl.edu	37	6	43038519	43038519	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr6:43038519A>T	ENST00000394056.2	+	9	1566	c.1071A>T	c.(1069-1071)gaA>gaT	p.E357D	KLC4_ENST00000394058.1_Missense_Mutation_p.E357D|KLC4_ENST00000453940.2_Missense_Mutation_p.E280D|KLC4_ENST00000479388.1_Missense_Mutation_p.E357D|KLC4_ENST00000347162.5_Missense_Mutation_p.E357D|KLC4_ENST00000259708.3_Missense_Mutation_p.E375D			Q9NSK0	KLC4_HUMAN	kinesin light chain 4	357						cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	microtubule motor activity (GO:0003777)			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			AGGCCGTGGAACGCTACTACC	0.577																																						dbGAP											0													68.0	59.0	62.0					6																	43038519		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055293	CCDS4882.1, CCDS4883.1, CCDS47429.1, CCDS75459.1	6p21.1	2013-01-10	2005-09-13	2005-09-13	ENSG00000137171	ENSG00000137171		"""Tetratricopeptide (TTC) repeat domain containing"""	21624	protein-coding gene	gene with protein product			"""kinesin-like 8"""	KNSL8			Standard	NM_001289034		Approved	bA387M24.3	uc003otw.1	Q9NSK0	OTTHUMG00000014720	ENST00000394056.2:c.1071A>T	6.37:g.43038519A>T	ENSP00000377620:p.Glu357Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KNY4|B3KPI3|B3KSQ3|B4DME9|Q66K28|Q96EG6	Missense_Mutation	SNP	pfam_Rabaptin_Rab5-bd_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light	p.E375D	ENST00000394056.2	37	c.1125	CCDS4883.1	6	.	.	.	.	.	.	.	.	.	.	A	29.9	5.048222	0.93740	.	.	ENSG00000137171	ENST00000347162;ENST00000453940;ENST00000259708;ENST00000479388;ENST00000394056;ENST00000394058	D;D;D;D;D;D	0.94828	-3.53;-3.53;-3.53;-3.53;-3.53;-3.53	6.05	-6.54	0.01860	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.64402	D	0.000003	D	0.96119	0.8735	M	0.88906	2.99	0.50813	D	0.999899	D;D;D	0.63880	0.993;0.98;0.96	D;D;D	0.74674	0.984;0.964;0.969	D	0.96051	0.9031	10	0.52906	T	0.07	-23.8358	17.486	0.87688	0.4155:0.0:0.5845:0.0	.	280;375;357	B4DME9;Q9NSK0-3;Q9NSK0	.;.;KLC4_HUMAN	D	357;280;375;357;357;357	ENSP00000340221:E357D;ENSP00000395806:E280D;ENSP00000259708:E375D;ENSP00000418031:E357D;ENSP00000377620:E357D;ENSP00000377622:E357D	ENSP00000259708:E375D	E	+	3	2	KLC4	43146497	0.998000	0.40836	0.899000	0.35326	0.976000	0.68499	0.522000	0.22909	-1.232000	0.02554	0.528000	0.53228	GAA	KLC4	-	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000137171		0.577	KLC4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KLC4	HGNC	protein_coding	OTTHUMT00000040579.2	28	0.00	0	A	NM_138343		43038519	43038519	+1	no_errors	ENST00000259708	ensembl	human	known	69_37n	missense	31	34.69	17	SNP	0.907	T
KRT9	3857	genome.wustl.edu	37	17	39728035	39728035	+	Silent	SNP	G	G	T			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr17:39728035G>T	ENST00000246662.4	-	1	275	c.210C>A	c.(208-210)ggC>ggA	p.G70G	KRT9_ENST00000588431.1_Intron	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	70	Head.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				CGTAGCTGTAGCCAAAACTGC	0.612																																						dbGAP											0													94.0	75.0	82.0					17																	39728035		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS32654.1	17q21.2	2013-06-20	2008-08-01		ENSG00000171403	ENSG00000171403		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6447	protein-coding gene	gene with protein product	"""cytokeratin 9"", ""type I cytoskeletal 9"", ""epidermolytic palmoplantar keratoderma"""	607606				7512862, 16831889	Standard	NM_000226		Approved	EPPK, K9, CK-9	uc002hxe.4	P35527	OTTHUMG00000133599	ENST00000246662.4:c.210C>A	17.37:g.39728035G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O00109|Q0IJ47|Q14665	Silent	SNP	pfam_F,prints_Keratin_I	p.G70	ENST00000246662.4	37	c.210	CCDS32654.1	17																																																																																			KRT9	-	NULL	ENSG00000171403		0.612	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT9	HGNC	protein_coding	OTTHUMT00000257707.1	22	0.00	0	G	NM_000226		39728035	39728035	-1	no_errors	ENST00000246662	ensembl	human	known	69_37n	silent	17	48.48	16	SNP	0.000	T
LILRA6	79168	genome.wustl.edu	37	19	54745682	54745682	+	Missense_Mutation	SNP	C	C	T	rs111666280	byFrequency	TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr19:54745682C>T	ENST00000396365.2	-	4	467	c.428G>A	c.(427-429)cGa>cAa	p.R143Q	LILRA6_ENST00000419410.2_Missense_Mutation_p.R143Q|LILRA6_ENST00000245621.5_Missense_Mutation_p.R143Q|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000270464.5_Missense_Mutation_p.R143Q|LILRA6_ENST00000391735.3_Missense_Mutation_p.R143Q|LILRA6_ENST00000440558.2_Missense_Mutation_p.R143Q	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	143					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGAGCCACATCGGAGGGTCAT	0.567																																						dbGAP											0													29.0	50.0	43.0					19																	54745682		2122	4289	6411	-	-	-	SO:0001583	missense	0			AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15495	protein-coding gene	gene with protein product			"""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"""	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.428G>A	19.37:g.54745682C>T	ENSP00000379651:p.Arg143Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.R143Q	ENST00000396365.2	37	c.428	CCDS42610.1	19	.	.	.	.	.	.	.	.	.	.	C	0.554	-0.848058	0.02651	.	.	ENSG00000244482	ENST00000440558;ENST00000270464;ENST00000419410;ENST00000391735;ENST00000421123;ENST00000396365;ENST00000245621	T;T;T;T;T;T	0.12774	2.65;2.65;2.65;4.09;2.65;2.65	3.38	-6.77	0.01727	Immunoglobulin-like fold (1);	0.513077	0.18054	N	0.153187	T	0.02047	0.0064	N	0.01640	-0.785	0.09310	N	1	B;B;B;B;B;B	0.33000	0.046;0.003;0.332;0.049;0.046;0.393	B;B;B;B;B;B	0.32342	0.008;0.002;0.144;0.015;0.015;0.014	T	0.37454	-0.9705	10	0.02654	T	1	.	0.493	0.00567	0.2783:0.2174:0.3072:0.1971	.	143;143;143;143;143;143	C9JFH3;Q6PI73-2;Q6PI73;F8WCY4;D3YTC4;F8W6G6	.;.;LIRA6_HUMAN;.;.;.	Q	143	ENSP00000390120:R143Q;ENSP00000270464:R143Q;ENSP00000411227:R143Q;ENSP00000375615:R143Q;ENSP00000379651:R143Q;ENSP00000245621:R143Q	ENSP00000245621:R143Q	R	-	2	0	LILRA6	59437494	0.000000	0.05858	0.001000	0.08648	0.096000	0.18686	-1.554000	0.02172	-1.307000	0.02321	0.162000	0.16502	CGA	LILRA6	-	NULL	ENSG00000244482		0.567	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	LILRA6	HGNC	protein_coding	OTTHUMT00000313725.1	55	0.00	0	C	NM_024318		54745682	54745682	-1	no_errors	ENST00000270464	ensembl	human	known	69_37n	missense	40	14.89	7	SNP	0.001	T
LRCH2	57631	genome.wustl.edu	37	X	114400906	114400906	+	Splice_Site	SNP	C	C	A			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chrX:114400906C>A	ENST00000317135.8	-	7	1029		c.e7-1		LRCH2_ENST00000538422.1_Splice_Site	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2											breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						ATCTTCCATACTATGGAAATA	0.313																																						dbGAP											0													31.0	28.0	29.0					X																	114400906		1790	4040	5830	-	-	-	SO:0001630	splice_region_variant	0			AB040928	CCDS48155.1, CCDS59175.1	Xq24	2008-02-05			ENSG00000130224	ENSG00000130224			29292	protein-coding gene	gene with protein product						10819331	Standard	NM_020871		Approved	KIAA1495	uc010nqe.3	Q5VUJ6	OTTHUMG00000022233	ENST00000317135.8:c.999-1G>T	X.37:g.114400906C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	F5H2T1|Q08AD5|Q9HA88|Q9P233	Splice_Site	SNP	-	e7-1	ENST00000317135.8	37	c.999-1	CCDS48155.1	X	.	.	.	.	.	.	.	.	.	.	C	17.22	3.333865	0.60853	.	.	ENSG00000130224	ENST00000317135;ENST00000538422	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0096	0.80391	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRCH2	114307162	1.000000	0.71417	0.995000	0.50966	0.808000	0.45660	7.256000	0.78350	2.166000	0.68216	0.415000	0.27848	.	LRCH2	-	-	ENSG00000130224		0.313	LRCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRCH2	HGNC	protein_coding	OTTHUMT00000057971.2	49	0.00	0	C	NM_020871	Intron	114400906	114400906	-1	no_errors	ENST00000317135	ensembl	human	known	69_37n	splice_site	34	35.85	19	SNP	1.000	A
MYH7	4625	genome.wustl.edu	37	14	23885466	23885466	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr14:23885466T>G	ENST00000355349.3	-	34	4862	c.4700A>C	c.(4699-4701)cAg>cCg	p.Q1567P	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1567					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGCCTTGATCTGGTTGAACTC	0.642																																						dbGAP											0													133.0	131.0	131.0					14																	23885466		2203	4300	6503	-	-	-	SO:0001583	missense	0			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4700A>C	14.37:g.23885466T>G	ENSP00000347507:p.Gln1567Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Q1567P	ENST00000355349.3	37	c.4700	CCDS9601.1	14	.	.	.	.	.	.	.	.	.	.	T	20.2	3.954238	0.73902	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	T	0.80653	-1.4	4.55	4.55	0.56014	Myosin tail (1);	.	.	.	.	D	0.91630	0.7355	H	0.96889	3.9	0.58432	D	0.999999	D	0.53619	0.961	P	0.57720	0.826	D	0.94306	0.7541	9	0.87932	D	0	.	14.3618	0.66776	0.0:0.0:0.0:1.0	.	1567	P12883	MYH7_HUMAN	P	1567;1572	ENSP00000347507:Q1567P	ENSP00000347507:Q1567P	Q	-	2	0	MYH7	22955306	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.519000	0.81809	2.052000	0.61016	0.533000	0.62120	CAG	MYH7	-	pfam_Myosin_tail	ENSG00000092054		0.642	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	HGNC	protein_coding	OTTHUMT00000071798.3	96	0.00	0	T	NM_000257		23885466	23885466	-1	no_errors	ENST00000355349	ensembl	human	known	69_37n	missense	73	38.84	47	SNP	1.000	G
NFE2L1	4779	genome.wustl.edu	37	17	46128958	46128959	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr17:46128958_46128959insC	ENST00000362042.3	+	2	1094_1095	c.478_479insC	c.(478-480)gccfs	p.A160fs	NFE2L1_ENST00000361665.3_Frame_Shift_Ins_p.A160fs|NFE2L1_ENST00000357480.5_Frame_Shift_Ins_p.A160fs|NFE2L1_ENST00000585291.1_Frame_Shift_Ins_p.A160fs	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	160	Asp/Glu-rich (acidic).				anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)	p.V163fs*14(1)		cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGGGGCTGTAGCCCCCCCAGTC	0.589																																						dbGAP											1	Insertion - Frameshift(1)	kidney(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"""basic leucine zipper proteins"""	7781	protein-coding gene	gene with protein product		163260	"""nuclear factor (erythroid-derived 2)-like 1"""	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.485dupC	17.37:g.46128965_46128965dupC	ENSP00000354855:p.Ala160fs	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DTU3|D3DTU5|Q12877|Q96FN6	Frame_Shift_Ins	INS	pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.V163fs	ENST00000362042.3	37	c.478_479	CCDS11524.1	17																																																																																			NFE2L1	-	NULL	ENSG00000082641		0.589	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFE2L1	HGNC	protein_coding	OTTHUMT00000443019.1	22	0.00	0	-	NM_003204		46128958	46128959	+1	no_errors	ENST00000362042	ensembl	human	known	69_37n	frame_shift_ins	32	11.11	4	INS	1.000:1.000	C
OR5A2	219981	genome.wustl.edu	37	11	59190301	59190301	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr11:59190301C>G	ENST00000302040.4	-	1	148	c.126G>C	c.(124-126)tgG>tgC	p.W42C		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	42						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						GGCTTAAGTTCCAGGCCAACG	0.453																																						dbGAP											0													129.0	106.0	113.0					11																	59190301		2201	4295	6496	-	-	-	SO:0001583	missense	0			AB065805	CCDS31560.1	11q12.1	2012-08-09			ENSG00000172324	ENSG00000172324		"""GPCR / Class A : Olfactory receptors"""	15249	protein-coding gene	gene with protein product							Standard	NM_001001954		Approved		uc010rkt.2	Q8NGI9	OTTHUMG00000167419	ENST00000302040.4:c.126G>C	11.37:g.59190301C>G	ENSP00000303834:p.Trp42Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EH21|Q6IFF4|Q96RB0	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.W42C	ENST00000302040.4	37	c.126	CCDS31560.1	11	.	.	.	.	.	.	.	.	.	.	C	11.01	1.513259	0.27123	.	.	ENSG00000172324	ENST00000302040	T	0.01068	5.38	5.3	5.3	0.74995	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33438	U	0.004920	T	0.03827	0.0108	L	0.47190	1.495	0.49915	D	0.999839	D	0.89917	1.0	D	0.69142	0.962	T	0.43458	-0.9390	10	0.87932	D	0	.	10.3005	0.43650	0.0:0.9098:0.0:0.0902	.	42	Q8NGI9	OR5A2_HUMAN	C	42	ENSP00000303834:W42C	ENSP00000303834:W42C	W	-	3	0	OR5A2	58946877	0.123000	0.22298	0.998000	0.56505	0.053000	0.15095	0.263000	0.18478	2.655000	0.90218	0.460000	0.39030	TGG	OR5A2	-	pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000172324		0.453	OR5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5A2	HGNC	protein_coding	OTTHUMT00000394552.1	248	0.00	0	C	NM_001001954		59190301	59190301	-1	no_errors	ENST00000302040	ensembl	human	known	69_37n	missense	216	30.00	93	SNP	1.000	G
PAGE1	8712	genome.wustl.edu	37	X	49454040	49454040	+	Silent	SNP	C	C	T			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chrX:49454040C>T	ENST00000376150.3	-	5	531	c.399G>A	c.(397-399)gaG>gaA	p.E133E		NM_003785.3	NP_003776.2	O75459	PAGE1_HUMAN	P antigen family, member 1 (prostate associated)	133					cellular defense response (GO:0006968)					endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7	Ovarian(276;0.236)					GTGTTTTCACCTCCTCTGGAT	0.468																																						dbGAP											0													118.0	106.0	110.0					X																	49454040		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF058989	CCDS14327.1	Xp11.23	2009-06-17	2005-01-26	2005-01-27	ENSG00000068985	ENSG00000068985			4107	protein-coding gene	gene with protein product		300288	"""G antigen, family B, 1 (prostate associated)"""	GAGEB1		9651357, 9724777	Standard	NM_003785		Approved	PAGE-1, GAGE-9, CT16.3	uc004dom.3	O75459	OTTHUMG00000033224	ENST00000376150.3:c.399G>A	X.37:g.49454040C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6FGM3|Q9BSS7	Silent	SNP	pfam_GAGE	p.E133	ENST00000376150.3	37	c.399	CCDS14327.1	X																																																																																			PAGE1	-	pfam_GAGE	ENSG00000068985		0.468	PAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAGE1	HGNC	protein_coding	OTTHUMT00000081210.1	543	0.00	0	C			49454040	49454040	-1	no_errors	ENST00000376150	ensembl	human	known	69_37n	silent	444	33.43	223	SNP	0.000	T
PCDH11X	27328	genome.wustl.edu	37	X	91873468	91873468	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chrX:91873468G>T	ENST00000373094.1	+	7	4418	c.3573G>T	c.(3571-3573)caG>caT	p.Q1191H	PCDH11X_ENST00000406881.1_Missense_Mutation_p.Q1183H|PCDH11X_ENST00000298274.8_Missense_Mutation_p.Q1154H|PCDH11X_ENST00000373088.1_Missense_Mutation_p.Q1154H|PCDH11X_ENST00000373097.1_Missense_Mutation_p.Q1181H|PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000361655.2_Missense_Mutation_p.Q1173H	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1191					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GAGTGACACAGACCATTGCTC	0.587																																					NSCLC(38;925 1092 2571 38200 45895)	dbGAP											0													266.0	199.0	222.0					X																	91873468		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3573G>T	X.37:g.91873468G>T	ENSP00000362186:p.Gln1191His	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q1191H	ENST00000373094.1	37	c.3573	CCDS14461.1	X	.	.	.	.	.	.	.	.	.	.	G	15.75	2.925584	0.52759	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000373088;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T	0.53857	0.62;0.63;0.6;0.61;0.63;0.6	3.93	3.05	0.35203	.	.	.	.	.	T	0.51669	0.1688	L	0.36672	1.1	0.22737	N	0.998792	D;D;D;D;D	0.60160	0.987;0.987;0.987;0.987;0.978	P;P;P;P;P	0.55391	0.693;0.775;0.775;0.775;0.601	T	0.36915	-0.9728	9	0.62326	D	0.03	.	5.4224	0.16407	0.2628:0.0:0.7372:0.0	.	1154;1173;1183;1181;1191	Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7	.;.;.;.;PC11X_HUMAN	H	1191;1181;1154;1173;1183;1191;1154	ENSP00000362186:Q1191H;ENSP00000362189:Q1181H;ENSP00000362180:Q1154H;ENSP00000355105:Q1173H;ENSP00000384758:Q1183H;ENSP00000298274:Q1154H	ENSP00000298274:Q1154H	Q	+	3	2	PCDH11X	91760124	1.000000	0.71417	0.938000	0.37757	0.853000	0.48598	1.180000	0.32005	0.798000	0.33994	0.466000	0.42574	CAG	PCDH11X	-	NULL	ENSG00000102290		0.587	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH11X	HGNC	protein_coding	OTTHUMT00000057436.1	464	0.00	0	G	NM_032969		91873468	91873468	+1	no_errors	ENST00000373094	ensembl	human	known	69_37n	missense	216	36.66	125	SNP	0.674	T
PCID2	55795	genome.wustl.edu	37	13	113851457	113851457	+	Intron	SNP	T	T	C			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr13:113851457T>C	ENST00000337344.4	-	4	343				PCID2_ENST00000375479.2_Intron|PCID2_ENST00000375457.2_Intron|PCID2_ENST00000246505.5_Missense_Mutation_p.R101G|PCID2_ENST00000375459.1_Intron|PCID2_ENST00000375477.1_Intron	NM_001127202.2	NP_001120674.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2						negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mRNA stability (GO:0043488)|spleen development (GO:0048536)					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			GCATGTGTTCTATGCGGGACA	0.473																																						dbGAP											0													194.0	172.0	180.0					13																	113851457		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AK002167	CCDS9532.2, CCDS58301.1, CCDS58302.1	13q34	2006-03-31			ENSG00000126226	ENSG00000126226			25653	protein-coding gene	gene with protein product		613713				12477932	Standard	NM_001127203		Approved	FLJ11305	uc031qnm.1	Q5JVF3	OTTHUMG00000017385	ENST00000337344.4:c.266+34A>G	13.37:g.113851457T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NK09|Q3ZCX1|Q5TC57|Q5TC58|Q9H7K1|Q9HBZ7|Q9NUK6|Q9NVY1|Q9NW44|Q9NWH3	Missense_Mutation	SNP	pfam_PCI_dom,smart_PAM	p.R101G	ENST00000337344.4	37	c.301	CCDS9532.2	13	.	.	.	.	.	.	.	.	.	.	T	10.85	1.466193	0.26335	.	.	ENSG00000126226	ENST00000246505	.	.	.	4.12	-6.67	0.01783	.	.	.	.	.	T	0.20251	0.0487	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17077	-1.0381	7	0.24483	T	0.36	0.7571	5.4773	0.16702	0.0:0.3176:0.2478:0.4345	.	101	Q5JVF3-4	.	G	101	.	ENSP00000246505:R101G	R	-	1	2	PCID2	112899458	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.832000	0.00355	-1.831000	0.01198	-1.325000	0.01285	AGA	PCID2	-	NULL	ENSG00000126226		0.473	PCID2-002	KNOWN	alternative_3_UTR|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	PCID2	HGNC	protein_coding	OTTHUMT00000045897.1	102	0.00	0	T	NM_018386		113851457	113851457	-1	no_errors	ENST00000246505	ensembl	human	known	69_37n	missense	129	35.50	71	SNP	0.000	C
PIR	8544	genome.wustl.edu	37	X	15474117	15474117	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chrX:15474117G>C	ENST00000380421.3	-	5	794	c.334C>G	c.(334-336)Cat>Gat	p.H112D	PIR_ENST00000380420.5_Missense_Mutation_p.H112D|PIR_ENST00000476381.1_5'UTR	NM_001018109.2|NM_003662.3	NP_001018119.1|NP_003653.1	O00625	PIR_HUMAN	pirin (iron-binding nuclear protein)	112					monocyte differentiation (GO:0030224)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|quercetin 2,3-dioxygenase activity (GO:0008127)|transcription cofactor activity (GO:0003712)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9	Hepatocellular(33;0.183)					TGTAGGCCATGGGCTGGCTCC	0.512																																					Ovarian(180;1587 2015 10555 34192 51653)	dbGAP											0													186.0	186.0	186.0					X																	15474117		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y07868	CCDS14167.1	Xp22.31	2008-02-05			ENSG00000087842	ENSG00000087842			30048	protein-coding gene	gene with protein product		300931				9079676	Standard	NM_003662		Approved		uc004cwv.3	O00625	OTTHUMG00000021176	ENST00000380421.3:c.334C>G	X.37:g.15474117G>C	ENSP00000369786:p.His112Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5U0G0|Q6FHD2	Missense_Mutation	SNP	pfam_Pirin_C_dom,pfam_Pirin_N_dom,superfamily_RmlC_Cupin,pirsf_Pirin	p.H112D	ENST00000380421.3	37	c.334	CCDS14167.1	X	.	.	.	.	.	.	.	.	.	.	G	9.525	1.109329	0.20714	.	.	ENSG00000087842	ENST00000380420;ENST00000380421	T;T	0.49139	0.79;0.79	6.07	6.07	0.98685	Cupin, RmlC-type (1);RmlC-like jelly roll fold (1);Pirin, N-terminal (1);	0.167207	0.52532	D	0.000073	T	0.59783	0.2219	M	0.86097	2.795	0.44175	D	0.996986	P	0.42357	0.777	P	0.46585	0.521	T	0.59236	-0.7492	10	0.14252	T	0.57	-38.6772	16.7185	0.85404	0.0:0.0:1.0:0.0	.	112	O00625	PIR_HUMAN	D	112	ENSP00000369785:H112D;ENSP00000369786:H112D	ENSP00000369785:H112D	H	-	1	0	PIR	15384038	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	5.289000	0.65656	2.557000	0.86248	0.594000	0.82650	CAT	PIR	-	pfam_Pirin_N_dom,superfamily_RmlC_Cupin,pirsf_Pirin	ENSG00000087842		0.512	PIR-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PIR	HGNC	protein_coding	OTTHUMT00000055863.1	323	0.00	0	G	NM_003662		15474117	15474117	-1	no_errors	ENST00000380420	ensembl	human	known	69_37n	missense	90	53.37	103	SNP	0.999	C
PLEKHH2	130271	genome.wustl.edu	37	2	43927079	43927079	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr2:43927079G>A	ENST00000282406.4	+	8	1092	c.982G>A	c.(982-984)Gca>Aca	p.A328T		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	328					negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GTATCTGACAGCATCTGATGA	0.473																																						dbGAP											0													76.0	70.0	72.0					2																	43927079		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.982G>A	2.37:g.43927079G>A	ENSP00000282406:p.Ala328Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology	p.A328T	ENST00000282406.4	37	c.982	CCDS1812.1	2	.	.	.	.	.	.	.	.	.	.	G	15.38	2.815936	0.50527	.	.	ENSG00000152527	ENST00000282406	T	0.75477	-0.94	5.81	5.81	0.92471	.	0.057696	0.64402	D	0.000002	T	0.69878	0.3160	L	0.43152	1.355	0.49299	D	0.999772	B;P	0.47545	0.024;0.897	B;B	0.41440	0.018;0.357	T	0.66771	-0.5839	10	0.22706	T	0.39	-19.5045	20.0655	0.97703	0.0:0.0:1.0:0.0	.	328;328	Q8IVE3;Q8IVE3-3	PKHH2_HUMAN;.	T	328	ENSP00000282406:A328T	ENSP00000282406:A328T	A	+	1	0	PLEKHH2	43780583	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	7.321000	0.79088	2.753000	0.94483	0.563000	0.77884	GCA	PLEKHH2	-	NULL	ENSG00000152527		0.473	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHH2	HGNC	protein_coding	OTTHUMT00000250537.1	125	0.00	0	G	NM_172069		43927079	43927079	+1	no_errors	ENST00000282406	ensembl	human	known	69_37n	missense	162	21.63	45	SNP	1.000	A
POLE	5426	genome.wustl.edu	37	12	133226423	133226423	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr12:133226423A>G	ENST00000320574.5	-	30	3678	c.3635T>C	c.(3634-3636)aTg>aCg	p.M1212T	POLE_ENST00000535270.1_Missense_Mutation_p.M1185T	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1212					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GAAGTCCTCCATGTCAGGAGC	0.592								DNA polymerases (catalytic subunits)																														dbGAP											0													57.0	51.0	53.0					12																	133226423		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.3635T>C	12.37:g.133226423A>G	ENSP00000322570:p.Met1212Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13533|Q86VH9	Missense_Mutation	SNP	pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B	p.M1223T	ENST00000320574.5	37	c.3668	CCDS9278.1	12	.	.	.	.	.	.	.	.	.	.	a	12.30	1.895180	0.33442	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006;ENST00000536445;ENST00000503265	T;T;T;T	0.14144	4.18;4.18;4.18;2.53	5.89	5.89	0.94794	.	0.159966	0.64402	D	0.000001	T	0.21718	0.0523	M	0.76328	2.33	0.54753	D	0.999981	B;B	0.28512	0.214;0.136	B;B	0.28305	0.088;0.027	T	0.01259	-1.1403	10	0.52906	T	0.07	.	16.3543	0.83230	1.0:0.0:0.0:0.0	.	1185;1212	F5H1D6;Q07864	.;DPOE1_HUMAN	T	1212;1223;1185;992;189;16	ENSP00000322570:M1212T;ENSP00000406383:M1223T;ENSP00000445753:M1185T;ENSP00000442519:M992T	ENSP00000322570:M1212T	M	-	2	0	POLE	131736496	1.000000	0.71417	1.000000	0.80357	0.270000	0.26580	7.138000	0.77305	2.265000	0.75225	0.450000	0.29827	ATG	POLE	-	NULL	ENSG00000177084		0.592	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLE	HGNC	protein_coding	OTTHUMT00000397689.2	48	0.00	0	A	NM_006231		133226423	133226423	-1	no_errors	ENST00000455752	ensembl	human	known	69_37n	missense	45	32.84	22	SNP	1.000	G
PRAMEF6	440561	genome.wustl.edu	37	1	13111617	13111617	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr1:13111617T>G	ENST00000376182.1	-	3	497	c.398A>C	c.(397-399)aAa>aCa	p.K133T	PRAMEF6_ENST00000414205.2_Missense_Mutation_p.K133T|PRAMEF6_ENST00000376192.5_Missense_Mutation_p.K133T	NM_001282323.1	NP_001269252.1	Q5VXH4	PRAM6_HUMAN	PRAME family member 6	133					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCACTGGTTTTTTGTTCCT	0.493																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS30594.1	1p36.21	2013-01-17				ENSG00000232423		"""-"""	30583	protein-coding gene	gene with protein product							Standard	NM_001010889		Approved		uc001auq.2	Q5VXH4	OTTHUMG00000001984	ENST00000376182.1:c.398A>C	1.37:g.13111617T>G	ENSP00000365353:p.Lys133Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A0AUJ9	Missense_Mutation	SNP	NULL	p.K133T	ENST00000376182.1	37	c.398		1	.	.	.	.	.	.	.	.	.	.	.	9.306	1.054243	0.19907	.	.	ENSG00000232423	ENST00000376192;ENST00000376182;ENST00000414205	T;T;T	0.04654	3.58;3.58;3.58	1.32	-1.99	0.07457	.	3.413660	0.01687	N	0.026476	T	0.09512	0.0234	M	0.62723	1.935	0.09310	N	1	P;P	0.51933	0.949;0.949	P;P	0.49192	0.602;0.602	T	0.29731	-1.0002	10	0.32370	T	0.25	.	4.523	0.11968	0.0:0.4486:0.0:0.5514	.	133;133	A6NMV5;Q5TYX0	PRA23_HUMAN;PRAM5_HUMAN	T	133	ENSP00000365363:K133T;ENSP00000365353:K133T;ENSP00000393084:K133T	ENSP00000365353:K133T	K	-	2	0	PRAMEF6	13034204	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.652000	0.05366	-0.575000	0.05982	0.155000	0.16302	AAA	PRAMEF6	-	NULL	ENSG00000232423		0.493	PRAMEF6-201	KNOWN	basic|appris_candidate_longest	protein_coding	PRAMEF6	HGNC	protein_coding		37	0.00	0	T	NM_001010889		13111617	13111617	-1	no_errors	ENST00000376182	ensembl	human	known	69_37n	missense	13	18.75	3	SNP	0.000	G
PROC	5624	genome.wustl.edu	37	2	128186342	128186343	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr2:128186342_128186343insG	ENST00000234071.3	+	9	1293_1294	c.1206_1207insG	c.(1207-1209)gggfs	p.G403fs	PROC_ENST00000453608.2_Frame_Shift_Ins_p.G458fs|PROC_ENST00000422777.3_Frame_Shift_Ins_p.G403fs|PROC_ENST00000409048.1_Frame_Shift_Ins_p.G437fs	NM_000312.3	NP_000303.1	P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	403	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood coagulation (GO:0030195)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	AGGGCGACAGTGGGGGGCCCAT	0.639																																						dbGAP											0			GRCh37	CM951029	PROC	M																																				-	-	-	SO:0001589	frameshift_variant	0			X02750	CCDS2145.1	2q13-q14	2014-01-30			ENSG00000115718	ENSG00000115718		"""Endogenous ligands"""	9451	protein-coding gene	gene with protein product	"""prepro-protein C"""	612283				2991887, 2437584	Standard	NM_000312		Approved		uc002tok.3	P04070	OTTHUMG00000131528	ENST00000234071.3:c.1212dupG	2.37:g.128186348_128186348dupG	ENSP00000234071:p.Gly403fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DPQ7|Q15189|Q15190|Q16001|Q53S74|Q9UC55	Frame_Shift_Ins	INS	pirsf_Pept_S1A_FX,pfam_Peptidase_S1_S6,pfam_GLA_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1_S6	p.P459fs	ENST00000234071.3	37	c.1371_1372	CCDS2145.1	2																																																																																			PROC	-	pirsf_Pept_S1A_FX,pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6	ENSG00000115718		0.639	PROC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROC	HGNC	protein_coding	OTTHUMT00000254385.2	22	0.00	0	-	NM_000312		128186342	128186343	+1	no_errors	ENST00000453608	ensembl	human	known	69_37n	frame_shift_ins	17	10.53	2	INS	0.980:1.000	G
RB1	5925	genome.wustl.edu	37	13	49030343	49030343	+	Nonsense_Mutation	SNP	T	T	G	rs137853297		TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr13:49030343T>G	ENST00000267163.4	+	19	1956	c.1818T>G	c.(1816-1818)taT>taG	p.Y606*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	606	Pocket; binds T and E1A.|Spacer.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(10)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TATCTAGGTATCTTTCTCCTG	0.383		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												dbGAP	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	25	Whole gene deletion(15)|Unknown(10)	bone(10)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)	GRCh37	CM016045	RB1	M	rs137853297						71.0	73.0	72.0					13																	49030343		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1818T>G	13.37:g.49030343T>G	ENSP00000267163:p.Tyr606*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like	p.Y606*	ENST00000267163.4	37	c.1818	CCDS31973.1	13	.	.	.	.	.	.	.	.	.	.	T	38	7.041893	0.98021	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.4454	0.83928	0.0:0.0:0.0:1.0	.	.	.	.	X	585;606	.	ENSP00000267163:Y606X	Y	+	3	2	RB1	47928344	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.566000	0.36396	2.275000	0.75901	0.533000	0.62120	TAT	RB1	-	NULL	ENSG00000139687		0.383	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	HGNC	protein_coding	OTTHUMT00000044884.1	241	0.00	0	T			49030343	49030343	+1	no_errors	ENST00000267163	ensembl	human	known	69_37n	nonsense	60	55.88	76	SNP	1.000	G
RBBP6	5930	genome.wustl.edu	37	16	24582883	24582883	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr16:24582883A>G	ENST00000319715.4	+	18	4928	c.4496A>G	c.(4495-4497)gAc>gGc	p.D1499G	RBBP6_ENST00000381039.3_Missense_Mutation_p.D659G|RBBP6_ENST00000348022.2_Missense_Mutation_p.D1465G	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1499	Interaction with p53. {ECO:0000250}.				embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AGACGAAAAGACTCTCCTTCT	0.368																																						dbGAP											0													62.0	60.0	61.0					16																	24582883		2197	4299	6496	-	-	-	SO:0001583	missense	0				CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.4496A>G	16.37:g.24582883A>G	ENSP00000317872:p.Asp1499Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC	p.D1499G	ENST00000319715.4	37	c.4496	CCDS10621.1	16	.	.	.	.	.	.	.	.	.	.	A	16.16	3.045906	0.55110	.	.	ENSG00000122257	ENST00000381039;ENST00000319715;ENST00000348022	T;T;T	0.22134	1.97;2.2;2.2	6.04	6.04	0.98038	.	0.194192	0.42548	D	0.000690	T	0.16041	0.0386	L	0.27053	0.805	0.35232	D	0.777006	B;P;B	0.34724	0.05;0.465;0.335	B;B;B	0.34242	0.073;0.178;0.086	T	0.26780	-1.0093	10	0.30854	T	0.27	-12.9236	13.0251	0.58810	0.8658:0.1342:0.0:0.0	.	659;1465;1499	Q7Z6E9-4;Q7Z6E9-2;Q7Z6E9	.;.;RBBP6_HUMAN	G	659;1499;1465	ENSP00000370427:D659G;ENSP00000317872:D1499G;ENSP00000316291:D1465G	ENSP00000317872:D1499G	D	+	2	0	RBBP6	24490384	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.933000	0.63484	2.317000	0.78254	0.460000	0.39030	GAC	RBBP6	-	NULL	ENSG00000122257		0.368	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP6	HGNC	protein_coding	OTTHUMT00000214067.2	112	0.00	0	A	NM_006910		24582883	24582883	+1	no_errors	ENST00000319715	ensembl	human	known	69_37n	missense	106	30.72	47	SNP	1.000	G
RBM12	10137	genome.wustl.edu	37	20	34240663	34240663	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr20:34240663T>A	ENST00000374114.3	-	3	2845	c.2582A>T	c.(2581-2583)cAa>cTa	p.Q861L	CPNE1_ENST00000397446.1_Intron|CPNE1_ENST00000397442.1_Intron|RP1-309K20.6_ENST00000541176.2_Intron|RBM12_ENST00000359646.1_Missense_Mutation_p.Q861L|CPNE1_ENST00000352393.4_Intron|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397443.1_Intron|RBM12_ENST00000374104.3_Missense_Mutation_p.Q861L|CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000397445.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	861	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			GGGCATGTTTTGCACTTTAAT	0.468																																						dbGAP											0													71.0	72.0	71.0					20																	34240663		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ289772	CCDS13261.1	20q11.21	2013-02-12			ENSG00000244462	ENSG00000244462		"""RNA binding motif (RRM) containing"""	9898	protein-coding gene	gene with protein product		607179				11435693	Standard	NM_006047		Approved	HRIHFB2091, KIAA0765, SWAN	uc021wcq.1	Q9NTZ6	OTTHUMG00000032350	ENST00000374114.3:c.2582A>T	20.37:g.34240663T>A	ENSP00000363228:p.Gln861Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRU2|E1P5R6|O94865|Q8N3B1|Q9H196	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.Q861L	ENST00000374114.3	37	c.2582	CCDS13261.1	20	.	.	.	.	.	.	.	.	.	.	T	12.98	2.100488	0.37048	.	.	ENSG00000244462	ENST00000374114;ENST00000359646;ENST00000374104;ENST00000349942	T;T;T	0.07908	3.15;3.15;3.15	5.3	4.19	0.49359	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.64402	D	0.000001	T	0.11281	0.0275	L	0.46741	1.465	0.80722	D	1	P	0.38711	0.643	B	0.42214	0.38	T	0.02975	-1.1087	10	0.62326	D	0.03	-2.6893	11.2546	0.49045	0.0:0.0717:0.0:0.9283	.	861	Q9NTZ6	RBM12_HUMAN	L	861;861;861;660	ENSP00000363228:Q861L;ENSP00000352668:Q861L;ENSP00000363217:Q861L	ENSP00000339879:Q660L	Q	-	2	0	RBM12	33704077	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.493000	0.81493	1.017000	0.39495	0.533000	0.62120	CAA	RBM12	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000244462		0.468	RBM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM12	HGNC	protein_coding	OTTHUMT00000078894.1	139	0.00	0	T	NM_006047		34240663	34240663	-1	no_errors	ENST00000359646	ensembl	human	known	69_37n	missense	115	25.32	39	SNP	1.000	A
SHC2	25759	genome.wustl.edu	37	19	434769	434769	+	Silent	SNP	G	G	A			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr19:434769G>A	ENST00000264554.6	-	8	1049	c.1050C>T	c.(1048-1050)ggC>ggT	p.G350G		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	350	CH1.				activation of MAPK activity (GO:0000187)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)	cytosol (GO:0005829)				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACTAGCCCGCCCAGCGGCG	0.697																																						dbGAP											0													23.0	32.0	29.0					19																	434769		1942	4104	6046	-	-	-	SO:0001819	synonymous_variant	0			AB001451	CCDS45891.1	19p13.3	2013-02-14				ENSG00000129946		"""SH2 domain containing"""	29869	protein-coding gene	gene with protein product	"""neuronal Shc adaptor homolog"""	605217				7527937, 9507002	Standard	NM_012435		Approved	SLI, SCK, SHCB	uc002loq.4	P98077		ENST00000264554.6:c.1050C>T	19.37:g.434769G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O60230|Q9NPL5|Q9UCX4	Missense_Mutation	SNP	NULL	p.A64V	ENST00000264554.6	37	c.191	CCDS45891.1	19																																																																																			SHC2	-	NULL	ENSG00000129946		0.697	SHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHC2	HGNC	protein_coding	OTTHUMT00000451840.3	14	0.00	0	G			434769	434769	-1	no_start_codon	ENST00000590170	ensembl	human	known	69_37n	missense	5	54.55	6	SNP	0.998	A
SLC27A1	376497	genome.wustl.edu	37	19	17597396	17597396	+	Silent	SNP	G	G	A			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr19:17597396G>A	ENST00000252595.7	+	2	289	c.192G>A	c.(190-192)gtG>gtA	p.V64V	CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000442725.1_Silent_p.V64V|SLC27A1_ENST00000598424.1_5'UTR	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	64					adiponectin-activated signaling pathway (GO:0033211)|cardiolipin biosynthetic process (GO:0032049)|cellular lipid metabolic process (GO:0044255)|fatty acid metabolic process (GO:0006631)|long-chain fatty acid transport (GO:0015909)|medium-chain fatty acid transport (GO:0001579)|negative regulation of phospholipid biosynthetic process (GO:0071072)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phosphatidylglycerol biosynthetic process (GO:0006655)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylserine biosynthetic process (GO:0006659)|positive regulation of heat generation (GO:0031652)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to cold (GO:0009409)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fatty acid transporter activity (GO:0015245)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TGATCCGCGTGCGCCTGGAGC	0.721																																						dbGAP											0													8.0	7.0	7.0					19																	17597396		2061	4035	6096	-	-	-	SO:0001819	synonymous_variant	0			BC059399	CCDS32953.1	19p13.11	2013-07-15			ENSG00000130304	ENSG00000130304		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10995	protein-coding gene	gene with protein product		600691				10873384	Standard	NM_198580		Approved	FATP1, FATP, MGC71751, FLJ00336, ACSVL5	uc002ngu.1	Q6PCB7	OTTHUMG00000182878	ENST00000252595.7:c.192G>A	19.37:g.17597396G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIH2|B7Z662	Silent	SNP	pfam_AMP-dep_Synth/Lig	p.V64	ENST00000252595.7	37	c.192	CCDS32953.1	19																																																																																			SLC27A1	-	NULL	ENSG00000130304		0.721	SLC27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A1	HGNC	protein_coding	OTTHUMT00000464145.1	11	0.00	0	G	NM_198580		17597396	17597396	+1	no_errors	ENST00000252595	ensembl	human	known	69_37n	silent	6	40.00	4	SNP	0.963	A
SMARCA2	6595	genome.wustl.edu	37	9	2084197	2084198	+	Splice_Site	INS	-	-	ACA			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr9:2084197_2084198insACA	ENST00000382203.1	+	17	2735		c.e17+1		SMARCA2_ENST00000357248.2_Splice_Site|SMARCA2_ENST00000382194.1_Splice_Site|SMARCA2_ENST00000349721.2_Splice_Site			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2						aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		TCTTGCAAAGGTATGTTTTTAA	0.391																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0			D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.2526+1->ACA	9.37:g.2084197_2084198insACA		Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALG3|B1ALG4|D3DRH4|D3DRH5	Splice_Site	INS	-	e16+1	ENST00000382203.1	37	c.2526+1_2526+1	CCDS34977.1	9																																																																																			SMARCA2	-	-	ENSG00000080503		0.391	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	SMARCA2	HGNC	protein_coding	OTTHUMT00000051505.1	99	0.00	0	-	NM_003070	Intron	2084197	2084198	+1	no_errors	ENST00000349721	ensembl	human	known	69_37n	splice_site_ins	78	15.22	14	INS	1.000:1.000	ACA
SNHG14	104472715	genome.wustl.edu	37	15	25353431	25353432	+	RNA	INS	-	-	A	rs572795030		TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr15:25353431_25353432insA	ENST00000546682.1	+	0	4157				SNHG14_ENST00000549804.2_RNA|SNORD116-30_ENST00000516468.1_RNA|SNORD116-29_ENST00000384516.1_RNA|SNHG14_ENST00000553108.1_RNA	NR_003361.1				small nucleolar RNA host gene 14 (non-protein coding)																		ACGATGACTTTAAAAAAAAAAA	0.421																																						dbGAP											0																																										-	-	-			0					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25353442_25353442dupA		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	INS	-	NULL	ENST00000546682.1	37	NULL		15																																																																																			SNORD116-30	-	-	ENSG00000252277		0.421	SNHG14-022	KNOWN	basic	antisense	SNORD116-30	HGNC	processed_transcript	OTTHUMT00000408281.1	32	0.00	0	-			25353431	25353432	+1	no_errors	ENST00000516468	ensembl	human	known	69_37n	rna	21	30.00	9	INS	0.010:0.009	A
SNTG2	54221	genome.wustl.edu	37	2	1251147	1251147	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr2:1251147T>G	ENST00000308624.5	+	12	1066	c.937T>G	c.(937-939)Tct>Gct	p.S313A	SNTG2_ENST00000407292.1_Missense_Mutation_p.S186A	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	313	PH.				central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		AGCTGACTCCTCTCAAACCTT	0.507																																						dbGAP											0													65.0	67.0	67.0					2																	1251147		2040	4200	6240	-	-	-	SO:0001583	missense	0			AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.937T>G	2.37:g.1251147T>G	ENSP00000311837:p.Ser313Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q05AH5	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S313A	ENST00000308624.5	37	c.937	CCDS46220.1	2	.	.	.	.	.	.	.	.	.	.	T	0.014	-1.578241	0.00879	.	.	ENSG00000172554	ENST00000308624;ENST00000407292	T;T	0.68765	1.55;-0.35	5.47	-1.55	0.08558	Pleckstrin homology domain (1);	0.448691	0.22464	U	0.059702	T	0.49423	0.1556	L	0.51422	1.61	0.09310	N	1	B;B	0.22146	0.065;0.039	B;B	0.21708	0.036;0.016	T	0.39396	-0.9616	10	0.08837	T	0.75	.	6.7581	0.23526	0.0:0.3513:0.1232:0.5255	.	186;313	Q9NY99-2;Q9NY99	.;SNTG2_HUMAN	A	313;186	ENSP00000311837:S313A;ENSP00000385020:S186A	ENSP00000311837:S313A	S	+	1	0	SNTG2	1233698	0.096000	0.21769	0.000000	0.03702	0.010000	0.07245	0.451000	0.21779	-0.528000	0.06366	0.528000	0.53228	TCT	SNTG2	-	NULL	ENSG00000172554		0.507	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTG2	HGNC	protein_coding	OTTHUMT00000322454.1	132	0.00	0	T	NM_018968		1251147	1251147	+1	no_errors	ENST00000308624	ensembl	human	known	69_37n	missense	138	24.46	45	SNP	0.000	G
SP6	80320	genome.wustl.edu	37	17	45924911	45924911	+	Silent	SNP	G	G	A			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr17:45924911G>A	ENST00000536300.1	-	2	1216	c.885C>T	c.(883-885)ttC>ttT	p.F295F	SP6_ENST00000342234.2_Silent_p.F295F	NM_001258248.1	NP_001245177.1	Q3SY56	SP6_HUMAN	Sp6 transcription factor	295					positive regulation of cell proliferation (GO:0008284)|regulation of odontogenesis (GO:0042481)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						CCGAGCGCGTGAAGCGCTTGC	0.662																																						dbGAP											0													43.0	38.0	40.0					17																	45924911		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS11520.1	17q21.32	2013-01-08			ENSG00000189120	ENSG00000189120		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	14530	protein-coding gene	gene with protein product	"""epiprofin"""	608613				11087666, 14551215	Standard	NM_001258248		Approved	KLF14, Epfn	uc002img.2	Q3SY56	OTTHUMG00000132067	ENST00000536300.1:c.885C>T	17.37:g.45924911G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXS4	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.F295	ENST00000536300.1	37	c.885	CCDS11520.1	17																																																																																			SP6	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000189120		0.662	SP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SP6	HGNC	protein_coding	OTTHUMT00000441395.1	17	0.00	0	G	NM_199262		45924911	45924911	-1	no_errors	ENST00000342234	ensembl	human	known	69_37n	silent	6	50.00	6	SNP	1.000	A
STK33	65975	genome.wustl.edu	37	11	8457117	8457117	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr11:8457117A>G	ENST00000447869.1	-	10	1988	c.1070T>C	c.(1069-1071)gTt>gCt	p.V357A	STK33_ENST00000358872.3_Missense_Mutation_p.V170A|STK33_ENST00000315204.1_Missense_Mutation_p.V357A|STK33_ENST00000534493.1_Missense_Mutation_p.V316A|STK33_ENST00000396673.1_Missense_Mutation_p.V357A|STK33_ENST00000473980.1_5'UTR|STK33_ENST00000396672.1_Missense_Mutation_p.V357A			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	357	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TTGTTTCAAAACACTTTTAGC	0.274																																						dbGAP											0													63.0	59.0	61.0					11																	8457117		2199	4290	6489	-	-	-	SO:0001583	missense	0			AJ303380	CCDS7789.1, CCDS73253.1, CCDS73254.1	11p15.3	2010-03-10			ENSG00000130413	ENSG00000130413			14568	protein-coding gene	gene with protein product		607670				11738831	Standard	NM_030906		Approved		uc001mgj.1	Q9BYT3	OTTHUMG00000140275	ENST00000447869.1:c.1070T>C	11.37:g.8457117A>G	ENSP00000416750:p.Val357Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q658S6|Q8NEF5	Missense_Mutation	SNP	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	p.V357A	ENST00000447869.1	37	c.1070	CCDS7789.1	11	.	.	.	.	.	.	.	.	.	.	A	12.97	2.096293	0.36952	.	.	ENSG00000130413	ENST00000447869;ENST00000315204;ENST00000396672;ENST00000358872;ENST00000396673;ENST00000444064;ENST00000534493	T;T;T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24;-0.24;-0.24	6.17	1.29	0.21616	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.407978	0.26207	N	0.025710	T	0.46580	0.1400	L	0.28192	0.835	0.31089	N	0.711055	B;B	0.11235	0.004;0.002	B;B	0.22152	0.038;0.034	T	0.33420	-0.9869	10	0.27082	T	0.32	.	4.9693	0.14108	0.558:0.0:0.315:0.1269	.	316;357	B4DDH2;Q9BYT3	.;STK33_HUMAN	A	357;357;357;170;357;112;316	ENSP00000416750:V357A;ENSP00000320754:V357A;ENSP00000379905:V357A;ENSP00000351743:V170A;ENSP00000379906:V357A;ENSP00000415688:V112A;ENSP00000436418:V316A	ENSP00000320754:V357A	V	-	2	0	STK33	8413693	0.614000	0.27017	0.999000	0.59377	0.991000	0.79684	1.774000	0.38573	0.215000	0.20761	0.533000	0.62120	GTT	STK33	-	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	ENSG00000130413		0.274	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	STK33	HGNC	protein_coding	OTTHUMT00000276819.2	50	0.00	0	A	NM_030906		8457117	8457117	-1	no_errors	ENST00000315204	ensembl	human	known	69_37n	missense	34	35.85	19	SNP	0.985	G
SYMPK	8189	genome.wustl.edu	37	19	46332318	46332318	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr19:46332318G>T	ENST00000245934.7	-	14	2139	c.1895C>A	c.(1894-1896)gCc>gAc	p.A632D	AC092301.3_ENST00000601618.1_RNA	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	632					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GGCACCTGCGGCCAGGTAGGC	0.647																																						dbGAP											0													69.0	67.0	67.0					19																	46332318		2203	4300	6503	-	-	-	SO:0001583	missense	0			U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.1895C>A	19.37:g.46332318G>T	ENSP00000245934:p.Ala632Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	pfam_DUF3453,pfam_Symplekin_C,superfamily_ARM-type_fold	p.A632D	ENST00000245934.7	37	c.1895	CCDS12676.2	19	.	.	.	.	.	.	.	.	.	.	G	8.599	0.886426	0.17540	.	.	ENSG00000125755	ENST00000245934	.	.	.	4.76	3.62	0.41486	Armadillo-type fold (1);	0.264169	0.36555	N	0.002522	T	0.18593	0.0446	N	0.02539	-0.55	0.31289	N	0.689631	B;B	0.31769	0.339;0.004	B;B	0.21546	0.035;0.007	T	0.27157	-1.0082	9	0.87932	D	0	.	14.1618	0.65452	0.0:0.1656:0.8344:0.0	.	647;632	Q4LE61;Q92797	.;SYMPK_HUMAN	D	632	.	ENSP00000245934:A632D	A	-	2	0	SYMPK	51024158	0.079000	0.21365	0.870000	0.34147	0.193000	0.23685	0.922000	0.28734	2.209000	0.71365	0.456000	0.33151	GCC	SYMPK	-	superfamily_ARM-type_fold	ENSG00000125755		0.647	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYMPK	HGNC	protein_coding	OTTHUMT00000316581.1	38	0.00	0	G	NM_004819		46332318	46332318	-1	no_errors	ENST00000245934	ensembl	human	known	69_37n	missense	42	30.00	18	SNP	0.626	T
SYT2	127833	genome.wustl.edu	37	1	202571070	202571070	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr1:202571070A>T	ENST00000367267.1	-	6	941	c.749T>A	c.(748-750)cTc>cAc	p.L250H	RP11-569A11.1_ENST00000428573.1_RNA|SYT2_ENST00000367268.4_Missense_Mutation_p.L250H	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	250	Phospholipid binding. {ECO:0000250}.				neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	GGGCTGGCCGAGGTCCACTGT	0.532																																						dbGAP											0													191.0	170.0	177.0					1																	202571070		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK090672	CCDS1427.1	1q32.1	2013-01-21			ENSG00000143858	ENSG00000143858		"""Synaptotagmins"""	11510	protein-coding gene	gene with protein product		600104				7749232	Standard	NM_177402		Approved		uc010pqb.2	Q8N9I0	OTTHUMG00000041388	ENST00000367267.1:c.749T>A	1.37:g.202571070A>T	ENSP00000356236:p.Leu250His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q496K5|Q8NBE5	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_membr_targeting	p.L250H	ENST00000367267.1	37	c.749	CCDS1427.1	1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.603602	0.87157	.	.	ENSG00000143858	ENST00000367268;ENST00000367267	T;T	0.09630	2.96;2.96	5.32	5.32	0.75619	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.45637	0.1352	H	0.96080	3.765	0.80722	D	1	D	0.89917	1.0	D	0.67103	0.949	T	0.64002	-0.6509	10	0.87932	D	0	.	14.946	0.71032	1.0:0.0:0.0:0.0	.	250	Q8N9I0	SYT2_HUMAN	H	250	ENSP00000356237:L250H;ENSP00000356236:L250H	ENSP00000356236:L250H	L	-	2	0	SYT2	200837693	1.000000	0.71417	0.987000	0.45799	0.950000	0.60333	9.310000	0.96267	2.013000	0.59113	0.379000	0.24179	CTC	SYT2	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	ENSG00000143858		0.532	SYT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT2	HGNC	protein_coding	OTTHUMT00000099157.1	240	0.00	0	A	NM_177402		202571070	202571070	-1	no_errors	ENST00000367267	ensembl	human	known	69_37n	missense	332	25.88	117	SNP	1.000	T
TMEM131	23505	genome.wustl.edu	37	2	98409376	98409376	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr2:98409376G>C	ENST00000186436.5	-	31	3845	c.3617C>G	c.(3616-3618)cCc>cGc	p.P1206R		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1206						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						CCCGGCACTGGGTCGGGATGA	0.547																																						dbGAP											0													70.0	62.0	65.0					2																	98409376		2178	4277	6455	-	-	-	SO:0001583	missense	0			AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.3617C>G	2.37:g.98409376G>C	ENSP00000186436:p.Pro1206Arg	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_DUF3651_TMEM131	p.P1206R	ENST00000186436.5	37	c.3617	CCDS46368.1	2	.	.	.	.	.	.	.	.	.	.	G	18.91	3.724051	0.68959	.	.	ENSG00000075568	ENST00000186436;ENST00000409721	T	0.29142	1.58	6.02	6.02	0.97574	.	0.546830	0.22160	N	0.063799	T	0.21590	0.0520	N	0.14661	0.345	0.80722	D	1	B	0.28128	0.201	B	0.26416	0.069	T	0.08680	-1.0710	10	0.14656	T	0.56	-8.2406	20.1421	0.98061	0.0:0.0:1.0:0.0	.	1206	Q92545	TM131_HUMAN	R	1206;123	ENSP00000186436:P1206R	ENSP00000186436:P1206R	P	-	2	0	TMEM131	97775808	0.972000	0.33761	0.018000	0.16275	0.959000	0.62525	7.126000	0.77201	2.850000	0.98022	0.650000	0.86243	CCC	TMEM131	-	NULL	ENSG00000075568		0.547	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM131	HGNC	protein_coding	OTTHUMT00000329285.2	23	0.00	0	G	XM_371542		98409376	98409376	-1	no_errors	ENST00000186436	ensembl	human	known	69_37n	missense	11	45.00	9	SNP	0.104	C
TNFAIP6	7130	genome.wustl.edu	37	2	152214261	152214261	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr2:152214261C>A	ENST00000243347.3	+	1	156	c.81C>A	c.(79-81)aaC>aaA	p.N27K		NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	27					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)		hyaluronic acid binding (GO:0005540)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)	Hyaluronan(DB08818)	TTTTTCATAACTCCATATGGC	0.353																																						dbGAP											0													143.0	137.0	139.0					2																	152214261		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2193.1	2q23.3	2008-11-18			ENSG00000123610	ENSG00000123610			11898	protein-coding gene	gene with protein product		600410				1730767, 8568267, 15060082	Standard	NM_007115		Approved	TSG6, TSG-6	uc002txk.3	P98066	OTTHUMG00000131884	ENST00000243347.3:c.81C>A	2.37:g.152214261C>A	ENSP00000243347:p.Asn27Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53TI7|Q8WWI9	Missense_Mutation	SNP	pfam_CUB,pfam_Link,superfamily_CUB,superfamily_C-type_lectin_fold,smart_Link,smart_CUB,pfscan_CUB,pfscan_Link,prints_Link	p.N27K	ENST00000243347.3	37	c.81	CCDS2193.1	2	.	.	.	.	.	.	.	.	.	.	C	19.16	3.774116	0.69992	.	.	ENSG00000123610	ENST00000243347	T	0.18657	2.2	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.35158	0.0922	L	0.36672	1.1	0.52501	D	0.999958	D	0.76494	0.999	D	0.80764	0.994	T	0.02352	-1.1172	10	0.52906	T	0.07	.	12.6634	0.56826	0.0:0.9233:0.0:0.0767	.	27	P98066	TSG6_HUMAN	K	27	ENSP00000243347:N27K	ENSP00000243347:N27K	N	+	3	2	TNFAIP6	151922507	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.304000	0.43655	2.659000	0.90383	0.655000	0.94253	AAC	TNFAIP6	-	NULL	ENSG00000123610		0.353	TNFAIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFAIP6	HGNC	protein_coding	OTTHUMT00000254834.2	192	0.00	0	C	NM_007115		152214261	152214261	+1	no_errors	ENST00000243347	ensembl	human	known	69_37n	missense	78	43.48	60	SNP	1.000	A
TNFSF8	944	genome.wustl.edu	37	9	117692389	117692389	+	Splice_Site	SNP	C	C	G			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr9:117692389C>G	ENST00000223795.2	-	1	308	c.195G>C	c.(193-195)acG>acC	p.T65T		NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	65					apoptotic process (GO:0006915)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	receptor binding (GO:0005102)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						GTCCACTTACCGTCCTCTGAA	0.488																																						dbGAP											0													118.0	117.0	118.0					9																	117692389		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			L09753	CCDS6810.1, CCDS75884.1	9q33	2008-02-05			ENSG00000106952	ENSG00000106952		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11938	protein-coding gene	gene with protein product		603875		CD30LG		8391931, 9349718	Standard	NM_001244		Approved	CD153	uc004bji.2	P32971	OTTHUMG00000021025	ENST00000223795.2:c.195+1G>C	9.37:g.117692389C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O43404	Silent	SNP	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pirsf_TNF_CD30_ligand_type,pfscan_TNF	p.T65	ENST00000223795.2	37	c.195	CCDS6810.1	9																																																																																			TNFSF8	-	pirsf_TNF_CD30_ligand_type	ENSG00000106952		0.488	TNFSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFSF8	HGNC	protein_coding	OTTHUMT00000055464.1	216	0.00	0	C		Silent	117692389	117692389	-1	no_errors	ENST00000223795	ensembl	human	known	69_37n	silent	272	26.09	96	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179584289	179584289	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr2:179584289T>C	ENST00000591111.1	-	80	23203	c.22979A>G	c.(22978-22980)cAt>cGt	p.H7660R	TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.H7977R|TTN_ENST00000342992.6_Missense_Mutation_p.H6733R|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13207	Ig-like 58.				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)			ACCAGAAACATGGACGGATAC	0.393																																						dbGAP											0													176.0	171.0	172.0					2																	179584289		1864	4091	5955	-	-	-	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.22979A>G	2.37:g.179584289T>C	ENSP00000465570:p.His7660Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	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.H6733R	ENST00000591111.1	37	c.20198		2	.	.	.	.	.	.	.	.	.	.	T	9.065	0.995494	0.19043	.	.	ENSG00000155657	ENST00000342992	T	0.66280	-0.2	6.08	6.08	0.98989	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);	.	.	.	.	T	0.51346	0.1669	N	0.25426	0.745	0.80722	D	1	P	0.39601	0.68	B	0.35607	0.206	T	0.58171	-0.7683	9	0.87932	D	0	.	16.6438	0.85155	0.0:0.0:0.0:1.0	.	7660	Q8WZ42	TITIN_HUMAN	R	6733	ENSP00000343764:H6733R	ENSP00000343764:H6733R	H	-	2	0	TTN	179292534	0.967000	0.33354	0.997000	0.53966	0.954000	0.61252	2.029000	0.41098	2.333000	0.79357	0.533000	0.62120	CAT	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like	ENSG00000155657		0.393	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	468	0.00	0	T	NM_133378		179584289	179584289	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	326	32.22	155	SNP	0.974	C
TNS1	7145	genome.wustl.edu	37	2	218713217	218713217	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr2:218713217T>C	ENST00000171887.4	-	17	2100	c.1648A>G	c.(1648-1650)Atg>Gtg	p.M550V	TNS1_ENST00000419504.1_Missense_Mutation_p.M550V|TNS1_ENST00000480665.1_5'UTR|TNS1_ENST00000430930.1_Missense_Mutation_p.M550V	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	550					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		ATAGGCTCCATGGGGTAGGAC	0.662																																						dbGAP											0													47.0	54.0	52.0					2																	218713217		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.1648A>G	2.37:g.218713217T>C	ENSP00000171887:p.Met550Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4ZG71|Q6IPI5	Missense_Mutation	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.M550V	ENST00000171887.4	37	c.1648	CCDS2407.1	2	.	.	.	.	.	.	.	.	.	.	T	3.511	-0.099726	0.07010	.	.	ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903	D;D;D;D	0.93133	-2.65;-2.65;-2.65;-3.17	4.79	-0.193	0.13244	.	1.940150	0.02448	N	0.085239	D	0.84428	0.5470	N	0.08118	0	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.73633	-0.3921	10	0.28530	T	0.3	.	5.2524	0.15529	0.1377:0.3782:0.0:0.4841	.	550;604;550;550;550	B2RU35;A1L0S7;Q9HBL0;E9PGF5;E9PF55	.;.;TENS1_HUMAN;.;.	V	550;550;550;675	ENSP00000171887:M550V;ENSP00000408724:M550V;ENSP00000406016:M550V;ENSP00000405460:M675V	ENSP00000171887:M550V	M	-	1	0	TNS1	218421462	0.000000	0.05858	0.000000	0.03702	0.871000	0.50021	-0.599000	0.05700	-0.242000	0.09667	-0.441000	0.05720	ATG	TNS1	-	NULL	ENSG00000079308		0.662	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNS1	HGNC	protein_coding	OTTHUMT00000256672.2	28	0.00	0	T	NM_022648		218713217	218713217	-1	no_errors	ENST00000171887	ensembl	human	known	69_37n	missense	68	19.05	16	SNP	0.000	C
UBE3C	9690	genome.wustl.edu	37	7	157041140	157041140	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr7:157041140G>A	ENST00000348165.5	+	19	2920	c.2560G>A	c.(2560-2562)Gtg>Atg	p.V854M		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	854	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		CAGTGCCGACGTGGACATTCA	0.498																																						dbGAP											0													136.0	135.0	136.0					7																	157041140		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.2560G>A	7.37:g.157041140G>A	ENSP00000309198:p.Val854Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS	p.V854M	ENST00000348165.5	37	c.2560	CCDS34789.1	7	.	.	.	.	.	.	.	.	.	.	G	19.93	3.917338	0.73098	.	.	ENSG00000009335	ENST00000348165	T	0.61040	0.14	5.74	5.74	0.90152	HECT (4);	0.053904	0.64402	D	0.000001	T	0.70815	0.3267	L	0.43701	1.375	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.70716	0.946;0.97	T	0.69427	-0.5148	10	0.49607	T	0.09	.	19.9122	0.97029	0.0:0.0:1.0:0.0	.	854;707	Q15386;B4DHJ9	UBE3C_HUMAN;.	M	854	ENSP00000309198:V854M	ENSP00000309198:V854M	V	+	1	0	UBE3C	156733901	1.000000	0.71417	0.969000	0.41365	0.142000	0.21351	9.360000	0.97119	2.702000	0.92279	0.655000	0.94253	GTG	UBE3C	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000009335		0.498	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3C	HGNC	protein_coding	OTTHUMT00000348108.1	170	0.00	0	G	NM_014671		157041140	157041140	+1	no_errors	ENST00000348165	ensembl	human	known	69_37n	missense	41	64.35	74	SNP	1.000	A
UBR4	23352	genome.wustl.edu	37	1	19419810	19419810	+	Missense_Mutation	SNP	T	T	A	rs141928995		TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr1:19419810T>A	ENST00000375254.3	-	96	14135	c.14108A>T	c.(14107-14109)aAg>aTg	p.K4703M	UBR4_ENST00000375226.2_Missense_Mutation_p.K4679M|UBR4_ENST00000375267.2_Missense_Mutation_p.K4703M|UBR4_ENST00000543981.1_Missense_Mutation_p.K367M|UBR4_ENST00000375217.2_Missense_Mutation_p.K4696M|UBR4_ENST00000429347.2_Missense_Mutation_p.K226M|UBR4_ENST00000375224.1_Missense_Mutation_p.K410M|UBR4_ENST00000467272.2_5'Flank	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4703					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TTCATACTTCTTGGCGCTAGG	0.517																																						dbGAP											0													123.0	114.0	117.0					1																	19419810		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.14108A>T	1.37:g.19419810T>A	ENSP00000364403:p.Lys4703Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.K4703M	ENST00000375254.3	37	c.14108	CCDS189.1	1	.	.	.	.	.	.	.	.	.	.	T	27.1	4.798630	0.90538	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000375224;ENST00000429347;ENST00000543981	T;T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45;1.45	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	T	0.57125	0.2032	M	0.76328	2.33	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.85130	0.996;0.996;0.997;0.993	T	0.60712	-0.7209	10	0.87932	D	0	.	15.4529	0.75290	0.0:0.0:0.0:1.0	.	367;226;4703;4679	B4DYV5;B4DPF6;Q5T4S7;Q5T4S7-3	.;.;UBR4_HUMAN;.	M	4703;4703;4696;4679;410;226;367	ENSP00000364403:K4703M;ENSP00000364416:K4703M;ENSP00000364365:K4696M;ENSP00000364374:K4679M;ENSP00000364372:K410M;ENSP00000394173:K226M;ENSP00000444070:K367M	ENSP00000364365:K4696M	K	-	2	0	UBR4	19292397	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.502000	0.81614	2.326000	0.78906	0.533000	0.62120	AAG	UBR4	-	NULL	ENSG00000127481		0.517	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	143	0.00	0	T	NM_020765		19419810	19419810	-1	no_errors	ENST00000375267	ensembl	human	known	69_37n	missense	47	61.16	74	SNP	1.000	A
UNC13A	23025	genome.wustl.edu	37	19	17741462	17741462	+	Splice_Site	SNP	C	C	G			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr19:17741462C>G	ENST00000519716.2	-	29	3525		c.e29+1		UNC13A_ENST00000551649.1_Splice_Site|UNC13A_ENST00000428389.2_Splice_Site|UNC13A_ENST00000552293.1_Splice_Site|UNC13A_ENST00000550896.1_Splice_Site|UNC13A_ENST00000252773.7_Splice_Site	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)						beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GGCCTTCTTACCCCATCCTTC	0.542																																						dbGAP											0													70.0	73.0	72.0					19																	17741462		1959	4163	6122	-	-	-	SO:0001630	splice_region_variant	0			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.3525+1G>C	19.37:g.17741462C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	E5RHY9	Splice_Site	SNP	-	e30+1	ENST00000519716.2	37	c.3789+1	CCDS46013.2	19	.	.	.	.	.	.	.	.	.	.	C	15.50	2.852428	0.51270	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	.	.	.	3.68	3.68	0.42216	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9632	0.58470	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	UNC13A	17602462	1.000000	0.71417	0.970000	0.41538	0.595000	0.36748	7.688000	0.84153	1.633000	0.50488	0.282000	0.19409	.	UNC13A	-	-	ENSG00000130477		0.542	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13A	HGNC	protein_coding	OTTHUMT00000376169.2	40	0.00	0	C	XM_038604	Intron	17741462	17741462	-1	no_errors	ENST00000428389	ensembl	human	known	69_37n	splice_site	57	24.00	18	SNP	1.000	G
USH2A	7399	genome.wustl.edu	37	1	215844496	215844496	+	Missense_Mutation	SNP	G	G	C	rs548761125		TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr1:215844496G>C	ENST00000307340.3	-	64	14337	c.13951C>G	c.(13951-13953)Cca>Gca	p.P4651A	USH2A_ENST00000366943.2_Missense_Mutation_p.P4651A	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4651	Fibronectin type-III 32. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GAAACAGTTGGCTGGAATCCT	0.453										HNSCC(13;0.011)			G|||	1	0.000199681	0.0	0.0	5008	,	,		16134	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													115.0	115.0	115.0					1																	215844496		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.13951C>G	1.37:g.215844496G>C	ENSP00000305941:p.Pro4651Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.P4651A	ENST00000307340.3	37	c.13951	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	G	1.085	-0.665864	0.03428	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.12569	2.67;2.67	5.09	5.09	0.68999	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.182617	0.26383	U	0.024688	T	0.14227	0.0344	L	0.51422	1.61	0.28316	N	0.922454	P	0.38617	0.64	B	0.40602	0.334	T	0.10776	-1.0615	10	0.45353	T	0.12	.	7.2866	0.26342	0.1184:0.0:0.7236:0.158	.	4651	O75445	USH2A_HUMAN	A	4651	ENSP00000305941:P4651A;ENSP00000355910:P4651A	ENSP00000305941:P4651A	P	-	1	0	USH2A	213911119	1.000000	0.71417	0.885000	0.34714	0.016000	0.09150	0.926000	0.28804	2.511000	0.84671	0.557000	0.71058	CCA	USH2A	-	smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.453	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	502	0.00	0	G	NM_007123		215844496	215844496	-1	no_errors	ENST00000366943	ensembl	human	known	69_37n	missense	594	17.84	129	SNP	1.000	C
VAT1L	57687	genome.wustl.edu	37	16	77859253	77859253	+	Silent	SNP	T	T	G			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr16:77859253T>G	ENST00000302536.2	+	3	627	c.474T>G	c.(472-474)gcT>gcG	p.A158A		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	158							oxidoreductase activity (GO:0016491)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						TCTCCGAGGCTGCTGCATTCC	0.537																																						dbGAP											0													128.0	103.0	111.0					16																	77859253		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AB046796	CCDS32492.1	16q23.1	2014-09-09	2013-08-23		ENSG00000171724	ENSG00000171724			29315	protein-coding gene	gene with protein product			"""vesicle amine transport protein 1 homolog (T. californica)-like"""			10997877	Standard	NM_020927		Approved	KIAA1576	uc002ffg.1	Q9HCJ6	OTTHUMG00000176845	ENST00000302536.2:c.474T>G	16.37:g.77859253T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IYW8	Silent	SNP	pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER	p.A158	ENST00000302536.2	37	c.474	CCDS32492.1	16																																																																																			VAT1L	-	superfamily_GroES-like,smart_PKS_ER	ENSG00000171724		0.537	VAT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAT1L	HGNC	protein_coding	OTTHUMT00000434010.1	79	0.00	0	T	NM_020927		77859253	77859253	+1	no_errors	ENST00000302536	ensembl	human	known	69_37n	silent	19	54.76	23	SNP	0.905	G
WDR13	64743	genome.wustl.edu	37	X	48457210	48457210	+	Silent	SNP	G	G	A			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chrX:48457210G>A	ENST00000218056.5	+	2	652	c.147G>A	c.(145-147)gcG>gcA	p.A49A	WDR13_ENST00000376729.5_Silent_p.A49A|WDR13_ENST00000492715.1_3'UTR	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	49						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						ACCCCCCAGCGCTGCGTCGGC	0.667																																						dbGAP											0													19.0	14.0	16.0					X																	48457210		2199	4294	6493	-	-	-	SO:0001819	synonymous_variant	0			AF329819	CCDS14302.1	Xp11.23	2013-01-09			ENSG00000101940	ENSG00000101940		"""WD repeat domain containing"""	14352	protein-coding gene	gene with protein product		300512					Standard	NM_017883		Approved		uc004dkj.2	Q9H1Z4	OTTHUMG00000024119	ENST00000218056.5:c.147G>A	X.37:g.48457210G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q06DW8|Q06DX0|Q06DX1|Q9BUL7|Q9NWW4	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A49	ENST00000218056.5	37	c.147	CCDS14302.1	X																																																																																			WDR13	-	NULL	ENSG00000101940		0.667	WDR13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR13	HGNC	protein_coding	OTTHUMT00000060743.2	24	0.00	0	G			48457210	48457210	+1	no_errors	ENST00000218056	ensembl	human	known	69_37n	silent	13	31.58	6	SNP	0.709	A
WNT5A	7474	genome.wustl.edu	37	3	55513565	55513565	+	Silent	SNP	C	C	T			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chr3:55513565C>T	ENST00000474267.1	-	4	689	c.168G>A	c.(166-168)caG>caA	p.Q56Q	WNT5A_ENST00000497027.1_Silent_p.Q41Q|WNT5A_ENST00000264634.4_Silent_p.Q56Q			P41221	WNT5A_HUMAN	wingless-type MMTV integration site family, member 5A	56					activation of JUN kinase activity (GO:0007257)|activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|ameboidal cell migration (GO:0001667)|anterior/posterior axis specification, embryo (GO:0008595)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular protein localization (GO:0034613)|cellular response to calcium ion (GO:0071277)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cervix development (GO:0060067)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|dopaminergic neuron differentiation (GO:0071542)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system development (GO:0048706)|epithelial cell proliferation involved in mammary gland duct elongation (GO:0060750)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity (GO:0001736)|face development (GO:0060324)|genitalia development (GO:0048806)|heart looping (GO:0001947)|hematopoietic stem cell proliferation (GO:0071425)|hindgut morphogenesis (GO:0007442)|hypophysis morphogenesis (GO:0048850)|keratinocyte differentiation (GO:0030216)|lateral sprouting involved in mammary gland duct morphogenesis (GO:0060599)|lens development in camera-type eye (GO:0002088)|lung development (GO:0030324)|male gonad development (GO:0008584)|mammary gland branching involved in thelarche (GO:0060744)|mesenchymal-epithelial cell signaling (GO:0060638)|midgut development (GO:0007494)|negative chemotaxis (GO:0050919)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of synapse assembly (GO:0051964)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|olfactory bulb interneuron development (GO:0021891)|optic cup formation involved in camera-type eye development (GO:0003408)|palate development (GO:0060021)|planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:0061350)|planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:0061349)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar cell polarity pathway involved in outflow tract morphogenesis (GO:0061347)|planar cell polarity pathway involved in pericardium morphogenesis (GO:0061354)|planar cell polarity pathway involved in ventricular septum morphogenesis (GO:0061348)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cartilage development (GO:0061036)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of cGMP metabolic process (GO:0030825)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of meiosis (GO:0045836)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ossification (GO:0045778)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of response to cytokine stimulus (GO:0060760)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|protein phosphorylation (GO:0006468)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|response to organic substance (GO:0010033)|somitogenesis (GO:0001756)|type B pancreatic cell development (GO:0003323)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vagina development (GO:0060068)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|wound healing (GO:0042060)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor tyrosine kinase-like orphan receptor binding (GO:0005115)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204)		CTTCTGACATCTGAACAGGGT	0.488																																						dbGAP											0													141.0	137.0	138.0					3																	55513565		1897	4117	6014	-	-	-	SO:0001819	synonymous_variant	0			L20861	CCDS46850.1, CCDS58835.1	3p21-p14	2013-02-28			ENSG00000114251	ENSG00000114251		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12784	protein-coding gene	gene with protein product	"""WNT-5A protein"""	164975				8288227	Standard	NM_001256105		Approved	hWNT5A	uc010hmw.4	P41221	OTTHUMG00000158361	ENST00000474267.1:c.168G>A	3.37:g.55513565C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K4A4|Q6P278	Silent	SNP	pfam_Wnt,smart_Wnt,prints_Wnt	p.Q56	ENST00000474267.1	37	c.168	CCDS46850.1	3																																																																																			WNT5A	-	NULL	ENSG00000114251		0.488	WNT5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNT5A	HGNC	protein_coding	OTTHUMT00000350793.3	116	0.00	0	C	NM_003392		55513565	55513565	-1	no_errors	ENST00000264634	ensembl	human	known	69_37n	silent	91	37.24	54	SNP	1.000	T
ZCCHC5	203430	genome.wustl.edu	37	X	77913268	77913268	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A09W-01A-11W-A019-09	TCGA-A8-A09W-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	9a2690ce-485f-4d4f-9673-d86f91be27a4	e6862e84-130f-487b-8d60-43c783d2a8bf	g.chrX:77913268T>A	ENST00000321110.1	-	2	945	c.650A>T	c.(649-651)gAg>gTg	p.E217V		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	217							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TGCTGATGTCTCCACAACTAT	0.527																																						dbGAP											0													35.0	35.0	35.0					X																	77913268		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"""Zinc fingers, CCHC domain containing"""	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.650A>T	X.37:g.77913268T>A	ENSP00000316794:p.Glu217Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMZ0|Q5JQE9	Missense_Mutation	SNP	pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.E217V	ENST00000321110.1	37	c.650	CCDS14440.1	X	.	.	.	.	.	.	.	.	.	.	T	10.34	1.324243	0.24080	.	.	ENSG00000179300	ENST00000321110	T	0.19250	2.16	3.4	0.344	0.16006	.	.	.	.	.	T	0.09642	0.0237	N	0.14661	0.345	0.09310	N	1	P	0.35575	0.51	B	0.34652	0.187	T	0.25152	-1.0140	9	0.30078	T	0.28	.	2.7471	0.05270	0.228:0.1853:0.0:0.5867	.	217	Q8N8U3	ZCHC5_HUMAN	V	217	ENSP00000316794:E217V	ENSP00000316794:E217V	E	-	2	0	ZCCHC5	77799924	0.002000	0.14202	0.000000	0.03702	0.103000	0.19146	0.048000	0.14078	-0.023000	0.13963	0.417000	0.27973	GAG	ZCCHC5	-	NULL	ENSG00000179300		0.527	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC5	HGNC	protein_coding	OTTHUMT00000057319.1	133	0.75	1	T	NM_152694		77913268	77913268	-1	no_errors	ENST00000321110	ensembl	human	known	69_37n	missense	77	32.76	38	SNP	0.001	A
