#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ADAMTS3	9508	genome.wustl.edu	37	4	73179510	73179510	+	Silent	SNP	C	C	T			TCGA-A8-A0A9-01A-11W-A019-09	TCGA-A8-A0A9-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	228e66eb-1dc6-4c01-8252-c557a8f53916	80968de5-1de3-4be8-8697-1764f28db89f	g.chr4:73179510C>T	ENST00000286657.4	-	12	1665	c.1629G>A	c.(1627-1629)aaG>aaA	p.K543K		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	543	Disintegrin.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GATTAGCATTCTTCCACATGC	0.403																																					NSCLC(168;1941 2048 2918 13048 43078)	dbGAP											0													138.0	112.0	121.0					4																	73179510		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.1629G>A	4.37:g.73179510C>T			A1L3U9|Q9BXZ8	Silent	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.K543	ENST00000286657.4	37	c.1629	CCDS3553.1	4																																																																																			ADAMTS3	-	NULL	ENSG00000156140		0.403	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS3	HGNC	protein_coding	OTTHUMT00000252164.2	155	0.00	0	C			73179510	73179510	-1	no_errors	ENST00000286657	ensembl	human	known	69_37n	silent	88	14.56	15	SNP	1.000	T
AK9	221264	genome.wustl.edu	37	6	109820405	109820405	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A8-A0A9-01A-11W-A019-09	TCGA-A8-A0A9-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	228e66eb-1dc6-4c01-8252-c557a8f53916	80968de5-1de3-4be8-8697-1764f28db89f	g.chr6:109820405G>A	ENST00000424296.2	-	36	4964	c.4888C>T	c.(4888-4890)Caa>Taa	p.Q1630*	RP5-919F19.5_ENST00000423747.2_RNA	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1630					ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										AGCAGCTCTTGAGGTGTGATA	0.388																																						dbGAP											0													54.0	53.0	54.0					6																	109820405		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.4888C>T	6.37:g.109820405G>A	ENSP00000410186:p.Gln1630*		A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Nonsense_Mutation	SNP	pfam_Adenylate_kin,pfam_YHS,smart_AAA+_ATPase	p.Q1630*	ENST00000424296.2	37	c.4888	CCDS55048.1	6	.	.	.	.	.	.	.	.	.	.	G	42	9.273149	0.99122	.	.	ENSG00000155085	ENST00000424296	.	.	.	5.41	1.49	0.22878	.	0.438812	0.26366	N	0.024786	.	.	.	.	.	.	0.36569	D	0.872904	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.8599	0.18740	0.0642:0.3436:0.3856:0.2065	.	.	.	.	X	1630	.	.	Q	-	1	0	AKD1	109927098	0.083000	0.21467	0.012000	0.15200	0.771000	0.43674	0.455000	0.21843	0.041000	0.15688	-0.126000	0.14955	CAA	AKD1	-	NULL	ENSG00000155085		0.388	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	AKD1	HGNC	protein_coding		96	0.00	0	G	NM_001145128		109820405	109820405	-1	no_errors	ENST00000424296	ensembl	human	known	69_37n	nonsense	44	32.31	21	SNP	0.101	A
APOH	350	genome.wustl.edu	37	17	64210602	64210602	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A0A9-01A-11W-A019-09	TCGA-A8-A0A9-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	228e66eb-1dc6-4c01-8252-c557a8f53916	80968de5-1de3-4be8-8697-1764f28db89f	g.chr17:64210602A>T	ENST00000205948.6	-	7	988	c.951T>A	c.(949-951)gaT>gaA	p.D317E		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	317	Sushi-like.				blood coagulation, intrinsic pathway (GO:0007597)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|plasminogen activation (GO:0031639)|positive regulation of blood coagulation (GO:0030194)|positive regulation of lipoprotein lipase activity (GO:0051006)|regulation of fibrinolysis (GO:0051917)|triglyceride metabolic process (GO:0006641)|triglyceride transport (GO:0034197)	cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipid binding (GO:0005543)			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			CGATAGTGCCATCTATACACT	0.398																																					Melanoma(155;624 1882 16869 48804 51309)	dbGAP											0													196.0	158.0	171.0					17																	64210602		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11663.1	17q24.2	2013-01-24				ENSG00000091583		"""Apolipoproteins"""	616	protein-coding gene	gene with protein product	"""beta-2-glycoprotein I"""	138700		B2G1		1582254	Standard	NM_000042		Approved	BG	uc002jfn.4	P02749		ENST00000205948.6:c.951T>A	17.37:g.64210602A>T	ENSP00000205948:p.Asp317Glu		B2R9M3|Q9UCN7	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_Sushi_2,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.D317E	ENST00000205948.6	37	c.951	CCDS11663.1	17	.	.	.	.	.	.	.	.	.	.	a	12.15	1.850708	0.32699	.	.	ENSG00000091583	ENST00000205948	T	0.39592	1.07	5.5	-5.86	0.02304	Complement control module (2);Beta-2-glycoprotein-1 fifth domain (2);	0.092847	0.64402	D	0.000001	T	0.48040	0.1478	M	0.78049	2.395	0.34322	D	0.686655	P	0.45672	0.864	P	0.47827	0.558	T	0.61671	-0.7015	10	0.51188	T	0.08	.	16.8103	0.85717	0.3699:0.0:0.6301:0.0	.	317	P02749	APOH_HUMAN	E	317	ENSP00000205948:D317E	ENSP00000205948:D317E	D	-	3	2	APOH	61641064	0.400000	0.25295	0.236000	0.24074	0.045000	0.14185	-0.371000	0.07513	-1.706000	0.01404	-2.078000	0.00380	GAT	APOH	-	pfam_Sushi_2,superfamily_Complement_control_module	ENSG00000091583		0.398	APOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOH	HGNC	protein_coding	OTTHUMT00000446926.1	175	0.00	0	A	NM_000042		64210602	64210602	-1	no_errors	ENST00000205948	ensembl	human	known	69_37n	missense	70	68.04	149	SNP	0.688	T
ARHGAP21	57584	genome.wustl.edu	37	10	24874774	24874774	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A0A9-01A-11W-A019-09	TCGA-A8-A0A9-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	228e66eb-1dc6-4c01-8252-c557a8f53916	80968de5-1de3-4be8-8697-1764f28db89f	g.chr10:24874774C>G	ENST00000396432.2	-	26	4930	c.4444G>C	c.(4444-4446)Gac>Cac	p.D1482H		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1481					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GTGCTGGGGTCTTTCCTAGTG	0.428																																						dbGAP											0													294.0	270.0	278.0					10																	24874774		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.4444G>C	10.37:g.24874774C>G	ENSP00000379709:p.Asp1482His		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.D1482H	ENST00000396432.2	37	c.4444	CCDS7144.2	10	.	.	.	.	.	.	.	.	.	.	C	16.08	3.020693	0.54576	.	.	ENSG00000107863	ENST00000396432;ENST00000447364	T	0.11277	2.79	4.78	3.86	0.44501	.	0.322034	0.32987	N	0.005402	T	0.21761	0.0524	M	0.65975	2.015	0.19945	N	0.999941	D	0.65815	0.995	P	0.55667	0.781	T	0.03852	-1.0998	10	0.52906	T	0.07	.	9.4988	0.39004	0.0:0.7764:0.1448:0.0787	.	1481	Q5T5U3	RHG21_HUMAN	H	1482;931	ENSP00000379709:D1482H	ENSP00000379709:D1482H	D	-	1	0	ARHGAP21	24914780	1.000000	0.71417	0.014000	0.15608	0.216000	0.24613	3.098000	0.50259	0.972000	0.38314	0.591000	0.81541	GAC	ARHGAP21	-	NULL	ENSG00000107863		0.428	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP21	HGNC	protein_coding	OTTHUMT00000047229.4	560	0.00	0	C	NM_020824		24874774	24874774	-1	no_errors	ENST00000396432	ensembl	human	known	69_37n	missense	205	39.35	133	SNP	0.008	G
ATF4	468	genome.wustl.edu	37	22	39917950	39917951	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A0A9-01A-11W-A019-09	TCGA-A8-A0A9-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	228e66eb-1dc6-4c01-8252-c557a8f53916	80968de5-1de3-4be8-8697-1764f28db89f	g.chr22:39917950_39917951insC	ENST00000337304.2	+	2	1281_1282	c.399_400insC	c.(400-402)cccfs	p.P134fs	ATF4_ENST00000404241.2_Frame_Shift_Ins_p.P134fs|ATF4_ENST00000396680.1_Frame_Shift_Ins_p.P134fs	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	134					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular amino acid metabolic process (GO:0006520)|cellular protein metabolic process (GO:0044267)|circadian regulation of gene expression (GO:0032922)|endoplasmic reticulum unfolded protein response (GO:0030968)|gamma-aminobutyric acid signaling pathway (GO:0007214)|gluconeogenesis (GO:0006094)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990440)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to endoplasmic reticulum stress (GO:0034976)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|Lewy body core (GO:1990037)|neuron projection (GO:0043005)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)				Pseudoephedrine(DB00852)	CTAATAAGCAGCCCCCCCAGAC	0.525																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			D90209	CCDS13996.1	22q13.1	2013-05-23	2013-05-23		ENSG00000128272	ENSG00000128272		"""basic leucine zipper proteins"""	786	protein-coding gene	gene with protein product	"""tax-responsive enhancer element B67"""	604064	"""activating transcription factor 4 (tax-responsive enhancer element B67)"""	TXREB		1847461, 1534408	Standard	NM_182810		Approved	TAXREB67, CREB-2	uc003axz.3	P18848	OTTHUMG00000151099	ENST00000337304.2:c.406dupC	22.37:g.39917957_39917957dupC	ENSP00000336790:p.Pro134fs		Q9UH31	Frame_Shift_Ins	INS	pfam_bZIP_1,pfam_bZIP_2,smart_bZIP,pfscan_bZIP	p.Q135fs	ENST00000337304.2	37	c.399_400	CCDS13996.1	22																																																																																			ATF4	-	NULL	ENSG00000128272		0.525	ATF4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ATF4	HGNC	protein_coding	OTTHUMT00000321305.1	137	0.00	0	-	NM_001675		39917950	39917951	+1	no_errors	ENST00000337304	ensembl	human	known	69_37n	frame_shift_ins	27	10.00	3	INS	0.452:0.485	C
CCDC66	285331	genome.wustl.edu	37	3	56605211	56605211	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A0A9-01A-11W-A019-09	TCGA-A8-A0A9-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	228e66eb-1dc6-4c01-8252-c557a8f53916	80968de5-1de3-4be8-8697-1764f28db89f	g.chr3:56605211G>C	ENST00000394672.3	+	7	887	c.817G>C	c.(817-819)Gaa>Caa	p.E273Q	CCDC66_ENST00000436465.2_Missense_Mutation_p.E273Q|CCDC66_ENST00000326595.7_Missense_Mutation_p.E239Q	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	273					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)					breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		ATTTACAGATGAACAGGTTGC	0.289																																						dbGAP											0													30.0	35.0	33.0					3																	56605211		2164	4261	6425	-	-	-	SO:0001583	missense	0			AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.817G>C	3.37:g.56605211G>C	ENSP00000378167:p.Glu273Gln		B3KWL8|Q4VC34|Q8N949	Missense_Mutation	SNP	NULL	p.E273Q	ENST00000394672.3	37	c.817	CCDS46852.1	3	.	.	.	.	.	.	.	.	.	.	G	23.7	4.445141	0.83993	.	.	ENSG00000180376	ENST00000422222;ENST00000394672;ENST00000326595;ENST00000436465	D;D;D;D	0.99637	-6.29;-6.29;-6.29;-6.29	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.99582	0.9849	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98440	1.0586	10	0.66056	D	0.02	-24.3436	18.1499	0.89671	0.0:0.0:1.0:0.0	.	273	A2RUB6	CCD66_HUMAN	Q	273;273;239;273	ENSP00000401451:E273Q;ENSP00000378167:E273Q;ENSP00000326050:E239Q;ENSP00000404320:E273Q	ENSP00000326050:E239Q	E	+	1	0	CCDC66	56580251	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.981000	0.70524	2.786000	0.95864	0.561000	0.74099	GAA	CCDC66	-	NULL	ENSG00000180376		0.289	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC66	HGNC	protein_coding	OTTHUMT00000341473.1	49	0.00	0	G	NM_001012506		56605211	56605211	+1	no_errors	ENST00000394672	ensembl	human	known	69_37n	missense	53	36.90	31	SNP	1.000	C
BBX	56987	genome.wustl.edu	37	3	107429348	107429348	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A0A9-01A-11W-A019-09	TCGA-A8-A0A9-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	228e66eb-1dc6-4c01-8252-c557a8f53916	80968de5-1de3-4be8-8697-1764f28db89f	g.chr3:107429348G>C	ENST00000325805.8	+	4	328	c.41G>C	c.(40-42)gGa>gCa	p.G14A	BBX_ENST00000402543.1_Missense_Mutation_p.G14A|BBX_ENST00000415149.2_Missense_Mutation_p.G14A|BBX_ENST00000416476.2_Missense_Mutation_p.G14A|BBX_ENST00000406780.1_Missense_Mutation_p.G14A			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	14					bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G14delG(1)		breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			TCAGCAGAAGGAGAAGGGGTT	0.418																																						dbGAP											1	Deletion - In frame(1)	lung(1)											116.0	109.0	111.0					3																	107429348		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.41G>C	3.37:g.107429348G>C	ENSP00000319974:p.Gly14Ala		A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Missense_Mutation	SNP	pfam_TF_HMG_box_BBX_DUF2028,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.G14A	ENST00000325805.8	37	c.41	CCDS46881.1	3	.	.	.	.	.	.	.	.	.	.	G	22.7	4.324613	0.81580	.	.	ENSG00000114439	ENST00000415149;ENST00000402543;ENST00000325805;ENST00000427402;ENST00000416476;ENST00000431630;ENST00000449335;ENST00000456817;ENST00000458458;ENST00000437908;ENST00000456419;ENST00000402163;ENST00000406780;ENST00000413213;ENST00000449271;ENST00000425868;ENST00000449213;ENST00000457496;ENST00000429270	D;D;D;D;D;D;D;D;D;D;D;D;D	0.99671	-6.28;-6.34;-6.35;-5.25;-5.5;-5.21;-5.25;-5.89;-6.28;-4.5;-2.53;-4.76;-4.76	5.23	4.36	0.52297	.	0.000000	0.85682	D	0.000000	D	0.99196	0.9721	L	0.34521	1.04	0.54753	D	0.999987	D;D;P;D	0.89917	1.0;1.0;0.853;1.0	D;D;B;D	0.91635	0.999;0.999;0.36;0.996	D	0.99560	1.0968	10	0.87932	D	0	-8.0307	14.0875	0.64968	0.0731:0.0:0.9269:0.0	.	14;14;14;14	C9JA69;Q8WY36;A2RRM7;Q8WY36-2	.;BBX_HUMAN;.;.	A	14	ENSP00000408358:G14A;ENSP00000385317:G14A;ENSP00000319974:G14A;ENSP00000413320:G14A;ENSP00000403860:G14A;ENSP00000408297:G14A;ENSP00000413274:G14A;ENSP00000385518:G14A;ENSP00000385530:G14A;ENSP00000403806:G14A;ENSP00000406554:G14A;ENSP00000407662:G14A;ENSP00000414673:G14A	ENSP00000319974:G14A	G	+	2	0	BBX	108912038	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.945000	0.70226	1.351000	0.45789	-0.142000	0.14014	GGA	BBX	-	NULL	ENSG00000114439		0.418	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BBX	HGNC	protein_coding	OTTHUMT00000317820.1	529	0.00	0	G	NM_020235		107429348	107429348	+1	no_errors	ENST00000325805	ensembl	human	known	69_37n	missense	207	31.68	96	SNP	1.000	C
CD300LG	146894	genome.wustl.edu	37	17	41931337	41931338	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A0A9-01A-11W-A019-09	TCGA-A8-A0A9-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	228e66eb-1dc6-4c01-8252-c557a8f53916	80968de5-1de3-4be8-8697-1764f28db89f	g.chr17:41931337_41931338insC	ENST00000317310.4	+	4	685_686	c.644_645insC	c.(643-648)cgccccfs	p.RP215fs	CD300LG_ENST00000293396.8_Frame_Shift_Ins_p.RP130fs|CD300LG_ENST00000539718.1_Frame_Shift_Ins_p.RP215fs|CD300LG_ENST00000586233.1_Frame_Shift_Ins_p.RP130fs|CD300LG_ENST00000377203.4_Frame_Shift_Ins_p.RP181fs	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	215					immune system process (GO:0002376)|immunoglobulin transcytosis in epithelial cells (GO:0002414)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GGGAGCTCCCGCCCCCCCATGC	0.629																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC025395	CCDS11470.1, CCDS54131.1, CCDS54132.1, CCDS54133.1	17q21.31	2013-01-11	2006-03-29					"""Immunoglobulin superfamily / V-set domain containing"""	30455	protein-coding gene	gene with protein product	"""nepmucin"""	610520	"""CD300 antigen like family member G"""			16876123, 16754720	Standard	NM_001168322		Approved	Trem4, CLM9	uc002iem.3	Q6UXG3		ENST00000317310.4:c.651dupC	17.37:g.41931344_41931344dupC	ENSP00000321005:p.Arg215fs		B4DNY5|F5H7P9|F8W9M3|Q8IX38|Q8IX39|Q8TA95	Frame_Shift_Ins	INS	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.M218fs	ENST00000317310.4	37	c.644_645	CCDS11470.1	17																																																																																			CD300LG	-	NULL	ENSG00000161649		0.629	CD300LG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD300LG	HGNC	protein_coding	OTTHUMT00000457646.1	28	0.00	0	-	NM_145273		41931337	41931338	+1	no_errors	ENST00000317310	ensembl	human	known	69_37n	frame_shift_ins	31	13.89	5	INS	0.000:0.000	C
CDH1	999	genome.wustl.edu	37	16	68849604	68849604	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A8-A0A9-01A-11W-A019-09	TCGA-A8-A0A9-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	228e66eb-1dc6-4c01-8252-c557a8f53916	80968de5-1de3-4be8-8697-1764f28db89f	g.chr16:68849604C>T	ENST00000261769.5	+	10	1698	c.1507C>T	c.(1507-1509)Cag>Tag	p.Q503*	CDH1_ENST00000422392.2_Nonsense_Mutation_p.Q442*|CDH1_ENST00000562836.1_3'UTR|RP11-354M1.2_ENST00000563916.1_RNA	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	503	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)	p.?(1)		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)		TGGCGTGGGCCAGGAAATCAC	0.498			"""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	1	Unknown(1)	breast(1)	GRCh37	CM044862	CDH1	M							140.0	124.0	129.0					16																	68849604		2198	4300	6498	-	-	-	SO:0001587	stop_gained	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.1507C>T	16.37:g.68849604C>T	ENSP00000261769:p.Gln503*		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q503*	ENST00000261769.5	37	c.1507	CCDS10869.1	16	.	.	.	.	.	.	.	.	.	.	C	23.4	4.407229	0.83230	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	.	.	.	5.5	-2.67	0.06059	.	1.914900	0.03104	N	0.161593	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	3.9683	0.09441	0.2905:0.4753:0.1066:0.1277	.	.	.	.	X	503;521;503;442	.	ENSP00000261769:Q503X	Q	+	1	0	CDH1	67407105	0.000000	0.05858	0.023000	0.16930	0.797000	0.45037	0.606000	0.24194	-0.244000	0.09639	0.561000	0.74099	CAG	CDH1	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000039068		0.498	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	267	0.00	0	C	NM_004360		68849604	68849604	+1	no_errors	ENST00000261769	ensembl	human	known	69_37n	nonsense	48	72.93	132	SNP	0.003	T
CNTROB	116840	genome.wustl.edu	37	17	7843471	7843471	+	Missense_Mutation	SNP	G	G	T	rs576991173	byFrequency	TCGA-A8-A0A9-01A-11W-A019-09	TCGA-A8-A0A9-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	228e66eb-1dc6-4c01-8252-c557a8f53916	80968de5-1de3-4be8-8697-1764f28db89f	g.chr17:7843471G>T	ENST00000563694.1	+	9	2147	c.1222G>T	c.(1222-1224)Gtg>Ttg	p.V408L	CNTROB_ENST00000565740.1_Missense_Mutation_p.V408L|CNTROB_ENST00000380255.3_Missense_Mutation_p.V408L|CNTROB_ENST00000380262.3_Missense_Mutation_p.V408L	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	408	Required for centrosome localization.				centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				GTTGGCATTGGTGCAGTCTGA	0.537																																						dbGAP											0													70.0	80.0	77.0					17																	7843471		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"""centrobin"""	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.1222G>T	17.37:g.7843471G>T	ENSP00000456335:p.Val408Leu		A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Missense_Mutation	SNP	NULL	p.V408L	ENST00000563694.1	37	c.1222	CCDS11126.1	17	.	.	.	.	.	.	.	.	.	.	G	7.905	0.735172	0.15574	.	.	ENSG00000170037	ENST00000380262;ENST00000380255	T;T	0.38401	1.14;1.15	5.47	3.32	0.38043	.	0.596426	0.14880	N	0.293033	T	0.19046	0.0457	N	0.14661	0.345	0.09310	N	0.99999	B;B;B;B	0.06786	0.001;0.0;0.0;0.001	B;B;B;B	0.09377	0.002;0.002;0.003;0.004	T	0.20940	-1.0260	10	0.25751	T	0.34	-2.1163	5.9048	0.18986	0.187:0.161:0.6519:0.0	.	408;408;408;408	Q8N137-4;Q8N137-3;Q8N137;Q8N137-2	.;.;CNTRB_HUMAN;.	L	408	ENSP00000369614:V408L;ENSP00000369605:V408L	ENSP00000369605:V408L	V	+	1	0	CNTROB	7784196	0.594000	0.26849	0.935000	0.37517	0.802000	0.45316	1.140000	0.31516	0.553000	0.29044	0.591000	0.81541	GTG	CNTROB	-	NULL	ENSG00000170037		0.537	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CNTROB	HGNC	protein_coding	OTTHUMT00000421372.1	90	0.00	0	G	NM_053051		7843471	7843471	+1	no_errors	ENST00000380262	ensembl	human	known	69_37n	missense	37	45.71	32	SNP	0.629	T
COL24A1	255631	genome.wustl.edu	37	1	86578258	86578258	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A0A9-01A-11W-A019-09	TCGA-A8-A0A9-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	228e66eb-1dc6-4c01-8252-c557a8f53916	80968de5-1de3-4be8-8697-1764f28db89f	g.chr1:86578258C>A	ENST00000370571.2	-	5	1957	c.1591G>T	c.(1591-1593)Ggt>Tgt	p.G531C	COL24A1_ENST00000436319.1_Missense_Mutation_p.G531C	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	531	Collagen-like 1.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		ACCTTTGGACCAGGTAATCCA	0.398																																						dbGAP											0													151.0	139.0	143.0					1																	86578258		1894	4114	6008	-	-	-	SO:0001583	missense	0			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.1591G>T	1.37:g.86578258C>A	ENSP00000359603:p.Gly531Cys		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_Fib_collagen_C	p.G531C	ENST00000370571.2	37	c.1591	CCDS41353.1	1	.	.	.	.	.	.	.	.	.	.	C	15.64	2.894100	0.52121	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.99637	-6.29;-6.29	5.54	5.54	0.83059	.	0.000000	0.39146	N	0.001446	D	0.99806	0.9916	H	0.96916	3.905	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97045	0.9760	10	0.87932	D	0	.	16.27	0.82612	0.0:1.0:0.0:0.0	.	531;531	F8WDM8;Q17RW2	.;COOA1_HUMAN	C	531	ENSP00000359603:G531C;ENSP00000392531:G531C	ENSP00000359603:G531C	G	-	1	0	COL24A1	86350846	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	4.996000	0.63914	2.628000	0.89032	0.586000	0.80456	GGT	COL24A1	-	pfam_Collagen	ENSG00000171502		0.398	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL24A1	HGNC	protein_coding	OTTHUMT00000029335.4	96	0.00	0	C	NM_152890		86578258	86578258	-1	no_errors	ENST00000370571	ensembl	human	known	69_37n	missense	20	41.18	14	SNP	1.000	A
COL8A1	1295	genome.wustl.edu	37	3	99514533	99514534	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A0A9-01A-11W-A019-09	TCGA-A8-A0A9-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	228e66eb-1dc6-4c01-8252-c557a8f53916	80968de5-1de3-4be8-8697-1764f28db89f	g.chr3:99514533_99514534insC	ENST00000261037.3	+	5	2168_2169	c.1788_1789insC	c.(1789-1791)cccfs	p.P597fs	COL8A1_ENST00000273342.4_Frame_Shift_Ins_p.P597fs	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	597	Nonhelical region (NC1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen type VIII trimer (GO:0005591)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						ATGGCGTGAAACCCCCCCATGC	0.614																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF170702	CCDS2934.1	3q11.1-q13.2	2013-01-16			ENSG00000144810	ENSG00000144810		"""Collagens"""	2215	protein-coding gene	gene with protein product		120251	"""chromosome 3 open reading frame 7"""	C3orf7		2029894	Standard	NM_001850		Approved	MGC9568	uc003dth.2	P27658	OTTHUMG00000148669	ENST00000261037.3:c.1795dupC	3.37:g.99514540_99514540dupC	ENSP00000261037:p.Pro597fs		D3DN42|Q53XI6|Q96D07	Frame_Shift_Ins	INS	pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.H598fs	ENST00000261037.3	37	c.1788_1789	CCDS2934.1	3																																																																																			COL8A1	-	NULL	ENSG00000144810		0.614	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL8A1	HGNC	protein_coding	OTTHUMT00000309001.1	50	0.00	0	-	NM_001850		99514533	99514534	+1	no_errors	ENST00000261037	ensembl	human	known	69_37n	frame_shift_ins	19	13.64	3	INS	0.906:0.314	C
DHX38	9785	genome.wustl.edu	37	16	72141353	72141353	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A0A9-01A-11W-A019-09	TCGA-A8-A0A9-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	228e66eb-1dc6-4c01-8252-c557a8f53916	80968de5-1de3-4be8-8697-1764f28db89f	g.chr16:72141353C>A	ENST00000268482.3	+	20	3224	c.2715C>A	c.(2713-2715)gaC>gaA	p.D905E	DHX38_ENST00000536867.1_Missense_Mutation_p.D217E	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	905					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GGGTGCAGGACCTGCTGCAGT	0.602																																					Melanoma(97;711 1442 7855 13832 28836)	dbGAP											0													43.0	38.0	40.0					16																	72141353		2198	4300	6498	-	-	-	SO:0001583	missense	0			AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"""DEAH-boxes"""	17211	protein-coding gene	gene with protein product		605584	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"""	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.2715C>A	16.37:g.72141353C>A	ENSP00000268482:p.Asp905Glu		B4DVG8|D3DWS7|O75212|Q96HN7	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D905E	ENST00000268482.3	37	c.2715	CCDS10907.1	16	.	.	.	.	.	.	.	.	.	.	C	23.9	4.466375	0.84425	.	.	ENSG00000140829	ENST00000268482;ENST00000536867	T;T	0.02916	4.11;4.11	5.28	4.22	0.49857	.	0.061226	0.64402	D	0.000004	T	0.11922	0.0290	M	0.76574	2.34	0.58432	D	0.999999	D;D	0.63880	0.989;0.993	P;P	0.60012	0.849;0.867	T	0.00653	-1.1625	10	0.72032	D	0.01	.	13.3052	0.60349	0.0:0.9173:0.0:0.0827	.	217;905	B4DVG8;Q92620	.;PRP16_HUMAN	E	905;217	ENSP00000268482:D905E;ENSP00000437898:D217E	ENSP00000268482:D905E	D	+	3	2	DHX38	70698854	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.179000	0.42528	1.295000	0.44724	0.655000	0.94253	GAC	DHX38	-	NULL	ENSG00000140829		0.602	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX38	HGNC	protein_coding	OTTHUMT00000269004.3	91	0.00	0	C	NM_014003		72141353	72141353	+1	no_errors	ENST00000268482	ensembl	human	known	69_37n	missense	21	70.42	50	SNP	1.000	A
DLG3	1741	genome.wustl.edu	37	X	69671832	69671832	+	Silent	SNP	C	C	T			TCGA-A8-A0A9-01A-11W-A019-09	TCGA-A8-A0A9-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	228e66eb-1dc6-4c01-8252-c557a8f53916	80968de5-1de3-4be8-8697-1764f28db89f	g.chrX:69671832C>T	ENST00000374360.3	+	7	1334	c.1101C>T	c.(1099-1101)taC>taT	p.Y367Y	RNU4-81P_ENST00000363561.1_RNA|DLG3-AS1_ENST00000424211.1_RNA|DLG3_ENST00000194900.4_Silent_p.Y385Y|DLG3-AS1_ENST00000431103.1_RNA|DLG3_ENST00000374355.3_5'Flank	NM_021120.3	NP_066943.2	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	367					axon guidance (GO:0007411)|establishment of planar polarity (GO:0001736)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphatase activity (GO:0010923)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)|tight junction (GO:0005923)	phosphatase binding (GO:0019902)			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					CCACCCGCTACTCTCCTATTC	0.577											OREG0019853	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													62.0	47.0	52.0					X																	69671832		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U49089	CCDS14403.1, CCDS43967.1, CCDS55439.1	Xq13.1	2014-06-12	2008-12-15		ENSG00000082458	ENSG00000082458			2902	protein-coding gene	gene with protein product	"""neuroendocrine-dlg"", ""protein phosphatase 1, regulatory subunit 82"""	300189	"""discs, large homolog 3 (neuroendocrine-dlg, Drosophila)"""			9598320	Standard	NM_021120		Approved	NE-Dlg, SAP102, SAP-102, NEDLG, KIAA1232, MRX90, PPP1R82	uc004dyi.2	Q92796	OTTHUMG00000021778	ENST00000374360.3:c.1101C>T	X.37:g.69671832C>T		1116	B4E0H1|D3DVU5|Q5JUW6|Q5JUW7|Q9ULI8	Silent	SNP	pfam_Guanylate_kin,pfam_PDZ,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.Y385	ENST00000374360.3	37	c.1155	CCDS14403.1	X																																																																																			DLG3	-	pfam_PDZ_assoc,superfamily_PDZ,pirsf_M-assoc_guanylate_kinase	ENSG00000082458		0.577	DLG3-001	KNOWN	basic|CCDS	protein_coding	DLG3	HGNC	protein_coding	OTTHUMT00000057074.2	34	0.00	0	C	NM_021120		69671832	69671832	+1	no_errors	ENST00000194900	ensembl	human	known	69_37n	silent	1	80.00	4	SNP	1.000	T
EPHB4	2050	genome.wustl.edu	37	7	100410501	100410501	+	Silent	SNP	C	C	T			TCGA-A8-A0A9-01A-11W-A019-09	TCGA-A8-A0A9-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	228e66eb-1dc6-4c01-8252-c557a8f53916	80968de5-1de3-4be8-8697-1764f28db89f	g.chr7:100410501C>T	ENST00000358173.3	-	12	2454	c.1986G>A	c.(1984-1986)ctG>ctA	p.L662L	EPHB4_ENST00000360620.3_Silent_p.L662L|EPHB4_ENST00000477446.1_5'Flank	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	662	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					AGGCCTCGCTCAGAAACTCAC	0.612																																					GBM(200;2113 3072 25865 52728)	dbGAP											0													106.0	104.0	105.0					7																	100410501		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.1986G>A	7.37:g.100410501C>T			B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Silent	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.L662	ENST00000358173.3	37	c.1986	CCDS5706.1	7																																																																																			EPHB4	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000196411		0.612	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB4	HGNC	protein_coding	OTTHUMT00000347222.1	40	0.00	0	C	NM_004444		100410501	100410501	-1	no_errors	ENST00000358173	ensembl	human	known	69_37n	silent	17	34.62	9	SNP	1.000	T
FAM86C2P	645332	genome.wustl.edu	37	11	67560517	67560517	+	RNA	SNP	T	T	C			TCGA-A8-A0A9-01A-11W-A019-09	TCGA-A8-A0A9-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	228e66eb-1dc6-4c01-8252-c557a8f53916	80968de5-1de3-4be8-8697-1764f28db89f	g.chr11:67560517T>C	ENST00000528089.1	-	0	1233							A6NEL3	F86C2_HUMAN	family with sequence similarity 86, member C2, pseudogene																		GATGTCTTATTAGAGGGCAGT	0.418																																						dbGAP											0																																										-	-	-			0					11q13.2	2011-07-07			ENSG00000160172	ENSG00000160172			42392	pseudogene	pseudogene							Standard	NR_024249		Approved		uc001omt.4	A6NEL3	OTTHUMG00000167222		11.37:g.67560517T>C				RNA	SNP	-	NULL	ENST00000528089.1	37	NULL		11																																																																																			FAM86C2P	-	-	ENSG00000160172		0.418	FAM86C2P-004	KNOWN	basic	processed_transcript	FAM86C2P	HGNC	pseudogene	OTTHUMT00000393796.1	33	0.00	0	T			67560517	67560517	-1	no_errors	ENST00000528089	ensembl	human	known	69_37n	rna	29	12.12	4	SNP	0.004	C
FBXO18	84893	genome.wustl.edu	37	10	5945069	5945069	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A8-A0A9-01A-11W-A019-09	TCGA-A8-A0A9-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	228e66eb-1dc6-4c01-8252-c557a8f53916	80968de5-1de3-4be8-8697-1764f28db89f	g.chr10:5945069C>T	ENST00000362091.4	+	2	203	c.88C>T	c.(88-90)Caa>Taa	p.Q30*	FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000379999.5_Nonsense_Mutation_p.Q81*|FBXO18_ENST00000470089.1_Intron	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	30					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						GCCCTTCGGTCAAAGATGGAC	0.478																																						dbGAP											0													96.0	88.0	91.0					10																	5945069		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.88C>T	10.37:g.5945069C>T	ENSP00000355415:p.Gln30*		Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Nonsense_Mutation	SNP	pfam_UvrD-like_ATP-bd,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.Q81*	ENST00000362091.4	37	c.241	CCDS7072.1	10	.	.	.	.	.	.	.	.	.	.	C	24.5	4.538982	0.85917	.	.	ENSG00000134452	ENST00000362091;ENST00000379999	.	.	.	5.42	5.42	0.78866	.	0.482216	0.23211	N	0.050664	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-9.721	18.0024	0.89201	0.0:1.0:0.0:0.0	.	.	.	.	X	30;81	.	ENSP00000355415:Q30X	Q	+	1	0	FBXO18	5985075	1.000000	0.71417	0.890000	0.34922	0.046000	0.14306	3.300000	0.51834	2.536000	0.85505	0.655000	0.94253	CAA	FBXO18	-	NULL	ENSG00000134452		0.478	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO18	HGNC	protein_coding	OTTHUMT00000046596.1	38	0.00	0	C	NM_032807		5945069	5945069	+1	no_errors	ENST00000379999	ensembl	human	known	69_37n	nonsense	28	39.13	18	SNP	0.989	T
FRMD4A	55691	genome.wustl.edu	37	10	13702348	13702350	+	In_Frame_Del	DEL	CTT	CTT	-	rs543063718		TCGA-A8-A0A9-01A-11W-A019-09	TCGA-A8-A0A9-10A-01W-A021-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	228e66eb-1dc6-4c01-8252-c557a8f53916	80968de5-1de3-4be8-8697-1764f28db89f	g.chr10:13702348_13702350delCTT	ENST00000357447.2	-	20	2232_2234	c.1864_1866delAAG	c.(1864-1866)aagdel	p.K622del	FRMD4A_ENST00000378503.1_In_Frame_Del_p.K622del|FRMD4A_ENST00000358621.4_In_Frame_Del_p.K607del	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	622					establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)				breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GCTTCTTGACCTTCTCATAGGGT	0.522											OREG0020030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.1864_1866delAAG	10.37:g.13702348_13702350delCTT	ENSP00000350032:p.Lys622del	689	A7E2Y3|Q5T377	In_Frame_Del	DEL	pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam	p.K622in_frame_del	ENST00000357447.2	37	c.1866_1864	CCDS7101.1	10																																																																																			FRMD4A	-	NULL	ENSG00000151474		0.522	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRMD4A	HGNC	protein_coding	OTTHUMT00000046889.1	21	0.00	0	CTT	NM_018027		13702348	13702350	-1	no_errors	ENST00000357447	ensembl	human	known	69_37n	in_frame_del	4	63.64	7	DEL	1.000:1.000:1.000	-
FRA10AC1	118924	genome.wustl.edu	37	10	95459821	95459821	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A0A9-01A-11W-A019-09	TCGA-A8-A0A9-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	228e66eb-1dc6-4c01-8252-c557a8f53916	80968de5-1de3-4be8-8697-1764f28db89f	g.chr10:95459821C>G	ENST00000359204.4	-	2	240	c.43G>C	c.(43-45)Gaa>Caa	p.E15Q	FRA10AC1_ENST00000371430.2_Missense_Mutation_p.E15Q|FRA10AC1_ENST00000536233.1_Missense_Mutation_p.E15Q|FRA10AC1_ENST00000394100.2_Missense_Mutation_p.E15Q	NM_145246.4	NP_660289.2	Q70Z53	F10C1_HUMAN	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	15						nucleus (GO:0005634)				NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						CCACAGCGTTCATCATCACTA	0.323																																						dbGAP											0													83.0	77.0	79.0					10																	95459821		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK090955	CCDS7430.1	10q23.33	2014-01-28	2010-05-25	2010-05-25	ENSG00000148690	ENSG00000148690			1162	protein-coding gene	gene with protein product		608866	"""chromosome 10 open reading frame 4"""	C10orf4		15203205	Standard	NM_145246		Approved		uc001kiz.2	Q70Z53	OTTHUMG00000018776	ENST00000359204.4:c.43G>C	10.37:g.95459821C>G	ENSP00000360488:p.Glu15Gln		C9JCR4|C9JCR5|C9JMY4|Q70Z49|Q70Z50|Q70Z51|Q70Z52|Q8N293|Q8WVH5|Q96JQ8	Missense_Mutation	SNP	pfam_Folate-sensitive_fs_Fra10Ac1	p.E15Q	ENST00000359204.4	37	c.43	CCDS7430.1	10	.	.	.	.	.	.	.	.	.	.	C	25.5	4.646856	0.87958	.	.	ENSG00000148690	ENST00000359204;ENST00000536233;ENST00000371426;ENST00000371430;ENST00000394100	T;T;T;T	0.25912	1.81;1.82;1.77;1.79	5.39	5.39	0.77823	.	0.110302	0.64402	D	0.000010	T	0.37046	0.0989	L	0.54323	1.7	0.46798	D	0.999209	P;P;P	0.51933	0.949;0.949;0.791	P;P;B	0.48454	0.578;0.578;0.255	T	0.10894	-1.0610	10	0.59425	D	0.04	-20.2624	19.5285	0.95215	0.0:1.0:0.0:0.0	.	15;15;15	F8WCS9;Q70Z53-2;Q70Z53	.;.;F10C1_HUMAN	Q	15	ENSP00000360488:E15Q;ENSP00000438405:E15Q;ENSP00000360484:E15Q;ENSP00000377660:E15Q	ENSP00000360488:E15Q	E	-	1	0	FRA10AC1	95449811	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.432000	0.73400	2.692000	0.91855	0.655000	0.94253	GAA	FRA10AC1	-	NULL	ENSG00000148690		0.323	FRA10AC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRA10AC1	HGNC	protein_coding	OTTHUMT00000049439.1	131	0.00	0	C	NM_145246		95459821	95459821	-1	no_errors	ENST00000359204	ensembl	human	known	69_37n	missense	34	37.93	22	SNP	1.000	G
GPC3	2719	genome.wustl.edu	37	X	132887945	132887945	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A0A9-01A-11W-A019-09	TCGA-A8-A0A9-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	228e66eb-1dc6-4c01-8252-c557a8f53916	80968de5-1de3-4be8-8697-1764f28db89f	g.chrX:132887945C>T	ENST00000370818.3	-	3	1041	c.596G>A	c.(595-597)cGa>cAa	p.R199Q	GPC3_ENST00000543339.1_Missense_Mutation_p.R145Q|GPC3_ENST00000394299.2_Missense_Mutation_p.R199Q	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	199					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|body morphogenesis (GO:0010171)|bone mineralization (GO:0030282)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cell proliferation involved in metanephros development (GO:0072203)|chondroitin sulfate metabolic process (GO:0030204)|coronary vasculature development (GO:0060976)|embryonic hindlimb morphogenesis (GO:0035116)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lung development (GO:0030324)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesonephric duct morphogenesis (GO:0072180)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of growth (GO:0045926)|negative regulation of smoothened signaling pathway (GO:0045879)|osteoclast differentiation (GO:0030316)|phototransduction, visible light (GO:0007603)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endocytosis (GO:0045807)|positive regulation of glucose import (GO:0046326)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	peptidyl-dipeptidase inhibitor activity (GO:0060422)			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					TCTTGCTCCTCGGAGGCACTC	0.473			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome																													dbGAP	yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	glypican 3		O	0													401.0	302.0	335.0					X																	132887945		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	SGBS	L47125	CCDS14638.1, CCDS55496.1	Xq26	2014-09-17			ENSG00000147257	ENSG00000147257		"""Proteoglycans / Cell Surface : Glypicans"""	4451	protein-coding gene	gene with protein product	"""glypican proteoglycan 3"""	300037		SDYS		8589713, 9787072	Standard	NM_004484		Approved	OCI-5, SGBS, SGBS1, SGB, DGSX	uc010nrn.2	P51654	OTTHUMG00000022448	ENST00000370818.3:c.596G>A	X.37:g.132887945C>T	ENSP00000359854:p.Arg199Gln		C9JLE3|G3V1R0|Q2L880|Q2L882	Missense_Mutation	SNP	pfam_Glypican	p.R199Q	ENST00000370818.3	37	c.596	CCDS14638.1	X	.	.	.	.	.	.	.	.	.	.	C	16.66	3.184916	0.57909	.	.	ENSG00000147257	ENST00000370818;ENST00000394299;ENST00000543339	T;T;T	0.49720	0.77;0.77;0.77	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.50377	0.1612	L	0.60455	1.87	0.51233	D	0.999914	B;B;B;B	0.19073	0.019;0.014;0.033;0.019	B;B;B;B	0.28232	0.032;0.024;0.087;0.032	T	0.49051	-0.8979	10	0.54805	T	0.06	.	17.2544	0.87051	0.0:1.0:0.0:0.0	.	183;145;199;199	B4DTD8;G3V1R0;C9JLE3;P51654	.;.;.;GPC3_HUMAN	Q	199;199;145	ENSP00000359854:R199Q;ENSP00000377836:R199Q;ENSP00000444222:R145Q	ENSP00000359854:R199Q	R	-	2	0	GPC3	132715611	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.298000	0.78815	2.285000	0.76669	0.594000	0.82650	CGA	GPC3	-	pfam_Glypican	ENSG00000147257		0.473	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC3	HGNC	protein_coding	OTTHUMT00000058356.1	493	0.00	0	C	NM_004484		132887945	132887945	-1	no_errors	ENST00000394299	ensembl	human	known	69_37n	missense	53	71.20	131	SNP	1.000	T
GRIN3A	116443	genome.wustl.edu	37	9	104335778	104335778	+	Missense_Mutation	SNP	C	C	T	rs560128415		TCGA-A8-A0A9-01A-11W-A019-09	TCGA-A8-A0A9-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	228e66eb-1dc6-4c01-8252-c557a8f53916	80968de5-1de3-4be8-8697-1764f28db89f	g.chr9:104335778C>T	ENST00000361820.3	-	9	3626	c.3026G>A	c.(3025-3027)cGt>cAt	p.R1009H		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	1009					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	GGTAAGCTGACGGGGTCCCAC	0.453													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21476	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													94.0	92.0	93.0					9																	104335778		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.3026G>A	9.37:g.104335778C>T	ENSP00000355155:p.Arg1009His		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt	p.R1009H	ENST00000361820.3	37	c.3026	CCDS6758.1	9	.	.	.	.	.	.	.	.	.	.	C	11.38	1.622682	0.28889	.	.	ENSG00000198785	ENST00000361820	T	0.10288	2.89	5.57	1.28	0.21552	.	2.152940	0.01275	N	0.009550	T	0.09024	0.0223	N	0.22421	0.69	0.21445	N	0.999684	P	0.37500	0.597	B	0.31812	0.136	T	0.39165	-0.9627	10	0.41790	T	0.15	.	10.0519	0.42221	0.0:0.714:0.0:0.286	.	1009	Q8TCU5	NMD3A_HUMAN	H	1009	ENSP00000355155:R1009H	ENSP00000355155:R1009H	R	-	2	0	GRIN3A	103375599	0.933000	0.31639	0.458000	0.27068	0.460000	0.32559	0.302000	0.19192	0.038000	0.15604	0.655000	0.94253	CGT	GRIN3A	-	NULL	ENSG00000198785		0.453	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN3A	HGNC	protein_coding	OTTHUMT00000053453.1	137	0.00	0	C			104335778	104335778	-1	no_errors	ENST00000361820	ensembl	human	known	69_37n	missense	71	18.39	16	SNP	0.922	T
GTF3C4	9329	genome.wustl.edu	37	9	135554618	135554618	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A0A9-01A-11W-A019-09	TCGA-A8-A0A9-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	228e66eb-1dc6-4c01-8252-c557a8f53916	80968de5-1de3-4be8-8697-1764f28db89f	g.chr9:135554618G>A	ENST00000372146.4	+	2	2176	c.1612G>A	c.(1612-1614)Gat>Aat	p.D538N	GTF3C4_ENST00000483873.2_3'UTR	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	538					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|positive regulation of catalytic activity (GO:0043085)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)|enzyme activator activity (GO:0008047)|histone acetyltransferase activity (GO:0004402)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		TAAGCAGGTAGATTTAATAGA	0.363																																					Pancreas(142;417 1875 11086 31973 47667)	dbGAP											0													60.0	68.0	65.0					9																	135554618		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF142328	CCDS6953.1	9q34.3	2011-07-01	2002-08-29		ENSG00000125484	ENSG00000125484		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""General transcription factors"""	4667	protein-coding gene	gene with protein product		604892	"""general transcription factor IIIC, polypeptide 4 (90kD)"""			10523658	Standard	NM_012204		Approved	TFIIIC90, KAT12	uc010mzv.3	Q9UKN8	OTTHUMG00000020842	ENST00000372146.4:c.1612G>A	9.37:g.135554618G>A	ENSP00000361219:p.Asp538Asn		Q5VZJ7	Missense_Mutation	SNP	superfamily_WD40_repeat_dom	p.D538N	ENST00000372146.4	37	c.1612	CCDS6953.1	9	.	.	.	.	.	.	.	.	.	.	G	23.0	4.359570	0.82353	.	.	ENSG00000125484	ENST00000372146	T	0.70516	-0.49	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.76976	0.4063	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.79032	-0.1969	10	0.62326	D	0.03	-31.7324	18.1527	0.89679	0.0:0.0:1.0:0.0	.	538	Q9UKN8	TF3C4_HUMAN	N	538	ENSP00000361219:D538N	ENSP00000361219:D538N	D	+	1	0	GTF3C4	134544439	1.000000	0.71417	0.943000	0.38184	0.997000	0.91878	9.238000	0.95380	2.638000	0.89438	0.655000	0.94253	GAT	GTF3C4	-	NULL	ENSG00000125484		0.363	GTF3C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C4	HGNC	protein_coding	OTTHUMT00000054792.1	151	0.00	0	G			135554618	135554618	+1	no_errors	ENST00000372146	ensembl	human	known	69_37n	missense	45	41.56	32	SNP	1.000	A
HIST1H2AH	85235	genome.wustl.edu	37	6	27115249	27115249	+	Silent	SNP	C	C	G	rs574744122	byFrequency	TCGA-A8-A0A9-01A-11W-A019-09	TCGA-A8-A0A9-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	228e66eb-1dc6-4c01-8252-c557a8f53916	80968de5-1de3-4be8-8697-1764f28db89f	g.chr6:27115249C>G	ENST00000377459.1	+	1	389	c.342C>G	c.(340-342)gcC>gcG	p.A114A	MIR3143_ENST00000584253.1_RNA|HIST1H2BK_ENST00000356950.1_5'Flank|HIST1H2BK_ENST00000396891.4_5'Flank	NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	114						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						ATATCCAGGCCGTGCTGCTGC	0.542																																						dbGAP											0													72.0	73.0	72.0					6																	27115249		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY131988	CCDS4622.1	6p22.1	2011-01-27	2006-10-11			ENSG00000274997		"""Histones / Replication-dependent"""	13671	protein-coding gene	gene with protein product		615013	"""histone 1, H2ah"""			12408966	Standard	NM_080596		Approved	H2AFALii, dJ86C11.1, H2A/S	uc003niz.4	Q96KK5		ENST00000377459.1:c.342C>G	6.37:g.27115249C>G				Silent	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.A114	ENST00000377459.1	37	c.342	CCDS4622.1	6																																																																																			HIST1H2AH	-	superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	ENSG00000184825		0.542	HIST1H2AH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AH	HGNC	protein_coding	OTTHUMT00000040136.1	87	0.00	0	C	NM_080596		27115249	27115249	+1	no_errors	ENST00000377459	ensembl	human	known	69_37n	silent	45	35.71	25	SNP	1.000	G
INHBA	3624	genome.wustl.edu	37	7	41739757	41739757	+	Silent	SNP	G	G	C			TCGA-A8-A0A9-01A-11W-A019-09	TCGA-A8-A0A9-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	228e66eb-1dc6-4c01-8252-c557a8f53916	80968de5-1de3-4be8-8697-1764f28db89f	g.chr7:41739757G>C	ENST00000242208.4	-	2	462	c.216C>G	c.(214-216)ccC>ccG	p.P72P	INHBA-AS1_ENST00000422822.1_RNA|INHBA_ENST00000442711.1_Silent_p.P72P|AC005027.3_ENST00000416150.1_RNA|INHBA-AS1_ENST00000415848.2_RNA|INHBA-AS1_ENST00000420821.1_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	72					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GGGTGACATCGGGTCTCTTCT	0.557										TSP Lung(11;0.080)																												dbGAP											0													240.0	259.0	253.0					7																	41739757		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"""Endogenous ligands"""	6066	protein-coding gene	gene with protein product		147290	"""inhibin, beta A (activin A, activin AB alpha polypeptide)"""			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.216C>G	7.37:g.41739757G>C			Q14599	Silent	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaA,prints_Inhibin_asu	p.P72	ENST00000242208.4	37	c.216	CCDS5464.1	7																																																																																			INHBA	-	pfam_TGF-b_N,prints_Inhibin_betaA	ENSG00000122641		0.557	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INHBA	HGNC	protein_coding	OTTHUMT00000250793.1	216	0.00	0	G			41739757	41739757	-1	no_errors	ENST00000242208	ensembl	human	known	69_37n	silent	157	25.59	54	SNP	1.000	C
ITGAE	3682	genome.wustl.edu	37	17	3656666	3656666	+	Missense_Mutation	SNP	G	G	A	rs530702065		TCGA-A8-A0A9-01A-11W-A019-09	TCGA-A8-A0A9-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	228e66eb-1dc6-4c01-8252-c557a8f53916	80968de5-1de3-4be8-8697-1764f28db89f	g.chr17:3656666G>A	ENST00000263087.4	-	14	1684	c.1586C>T	c.(1585-1587)aCg>aTg	p.T529M		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	529					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CAAGAAGTCCGTGCTTCCATC	0.567													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20088	0.0		0.0	False		,,,				2504	0.0				NSCLC(182;635 2928 8995 38788)	dbGAP											0													152.0	127.0	136.0					17																	3656666		2203	4300	6503	-	-	-	SO:0001583	missense	0			L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"""CD molecules"", ""Integrins"""	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.1586C>T	17.37:g.3656666G>A	ENSP00000263087:p.Thr529Met		Q17RS6|Q9NZU9	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_VWF_A,smart_Int_alpha_beta-p,pfscan_VWF_A,prints_Integrin_alpha	p.T529M	ENST00000263087.4	37	c.1586	CCDS32531.1	17	.	.	.	.	.	.	.	.	.	.	G	14.34	2.506366	0.44558	.	.	ENSG00000083457	ENST00000263087	T	0.15487	2.42	4.85	3.88	0.44766	.	.	.	.	.	T	0.32224	0.0822	M	0.66297	2.02	0.39296	D	0.964812	D	0.71674	0.998	P	0.56751	0.805	T	0.20874	-1.0262	9	0.87932	D	0	.	11.4673	0.50246	0.0895:0.0:0.9105:0.0	.	529	P38570	ITAE_HUMAN	M	529	ENSP00000263087:T529M	ENSP00000263087:T529M	T	-	2	0	ITGAE	3603415	1.000000	0.71417	0.724000	0.30704	0.111000	0.19643	6.511000	0.73733	1.185000	0.42971	-0.448000	0.05591	ACG	ITGAE	-	smart_Int_alpha_beta-p	ENSG00000083457		0.567	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	ITGAE	HGNC	protein_coding	OTTHUMT00000438169.1	103	0.00	0	G	NM_002208		3656666	3656666	-1	no_errors	ENST00000263087	ensembl	human	known	69_37n	missense	33	17.50	7	SNP	0.987	A
KCNB2	9312	genome.wustl.edu	37	8	73848282	73848282	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A0A9-01A-11W-A019-09	TCGA-A8-A0A9-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	228e66eb-1dc6-4c01-8252-c557a8f53916	80968de5-1de3-4be8-8697-1764f28db89f	g.chr8:73848282G>A	ENST00000523207.1	+	3	1280	c.692G>A	c.(691-693)cGc>cAc	p.R231H		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	231					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	AATGACAACCGCCAATTAGCA	0.458																																						dbGAP											0													190.0	166.0	174.0					8																	73848282		2203	4300	6503	-	-	-	SO:0001583	missense	0			U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.692G>A	8.37:g.73848282G>A	ENSP00000430846:p.Arg231His		Q7Z7D0|Q9BXD3	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8	p.R231H	ENST00000523207.1	37	c.692	CCDS6209.1	8	.	.	.	.	.	.	.	.	.	.	G	10.65	1.410889	0.25465	.	.	ENSG00000182674	ENST00000523207	D	0.97480	-4.4	5.93	-3.2	0.05156	.	0.775777	0.10923	N	0.619234	D	0.93210	0.7837	N	0.12182	0.205	0.25711	N	0.985481	B	0.10296	0.003	B	0.06405	0.002	T	0.72147	-0.4378	10	0.56958	D	0.05	.	24.6376	0.99991	0.0:0.279:0.721:0.0	.	231	Q92953	KCNB2_HUMAN	H	231	ENSP00000430846:R231H	ENSP00000430846:R231H	R	+	2	0	KCNB2	74010836	0.865000	0.29922	0.041000	0.18516	0.017000	0.09413	1.753000	0.38359	-0.200000	0.10300	-0.211000	0.12701	CGC	KCNB2	-	NULL	ENSG00000182674		0.458	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNB2	HGNC	protein_coding	OTTHUMT00000378998.1	274	0.00	0	G	NM_004770		73848282	73848282	+1	no_errors	ENST00000523207	ensembl	human	known	69_37n	missense	136	40.61	93	SNP	0.368	A
LAMB3	3914	genome.wustl.edu	37	1	209790887	209790887	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A0A9-01A-11W-A019-09	TCGA-A8-A0A9-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	228e66eb-1dc6-4c01-8252-c557a8f53916	80968de5-1de3-4be8-8697-1764f28db89f	g.chr1:209790887C>T	ENST00000356082.4	-	21	3230	c.3096G>A	c.(3094-3096)atG>atA	p.M1032I	LAMB3_ENST00000367030.3_Missense_Mutation_p.M1032I|LAMB3_ENST00000391911.1_Missense_Mutation_p.M1032I	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	1032	Domain I.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GCTGCTTGGTCATGCTTGTCA	0.612																																						dbGAP											0													99.0	97.0	98.0					1																	209790887		2203	4300	6503	-	-	-	SO:0001583	missense	0			D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.3096G>A	1.37:g.209790887C>T	ENSP00000348384:p.Met1032Ile		D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N	p.M1032I	ENST00000356082.4	37	c.3096	CCDS1487.1	1	.	.	.	.	.	.	.	.	.	.	C	12.22	1.874031	0.33069	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030;ENST00000455193	T;T;T;T	0.20463	2.07;2.07;2.07;2.37	5.53	4.62	0.57501	.	0.171432	0.64402	D	0.000015	T	0.14743	0.0356	L	0.29908	0.895	0.34247	D	0.67828	B	0.18166	0.026	B	0.19946	0.027	T	0.18745	-1.0327	10	0.19147	T	0.46	.	10.3661	0.44024	0.0:0.9093:0.0:0.0907	.	1032	Q13751	LAMB3_HUMAN	I	1032;1032;1032;101	ENSP00000375778:M1032I;ENSP00000348384:M1032I;ENSP00000355997:M1032I;ENSP00000398683:M101I	ENSP00000348384:M1032I	M	-	3	0	LAMB3	207857510	0.487000	0.25988	0.898000	0.35279	0.744000	0.42396	1.007000	0.29860	1.347000	0.45714	0.456000	0.33151	ATG	LAMB3	-	NULL	ENSG00000196878		0.612	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB3	HGNC	protein_coding	OTTHUMT00000088525.2	44	0.00	0	C	NM_000228		209790887	209790887	-1	no_errors	ENST00000356082	ensembl	human	known	69_37n	missense	62	19.48	15	SNP	0.983	T
MIR521-2	574481	genome.wustl.edu	37	19	54219912	54219912	+	RNA	SNP	C	C	T	rs558412948		TCGA-A8-A0A9-01A-11W-A019-09	TCGA-A8-A0A9-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	228e66eb-1dc6-4c01-8252-c557a8f53916	80968de5-1de3-4be8-8697-1764f28db89f	g.chr19:54219912C>T	ENST00000384818.1	+	0	65				RNU6-803P_ENST00000516034.1_RNA	NR_030203.1				microRNA 521-2																		ACGCACTTCCCTTTAGAGTGT	0.423													C|||	1	0.000199681	0.0	0.0	5008	,	,		20818	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													127.0	127.0	127.0					19																	54219912		1568	3582	5150	-	-	-			0					19q13.42	2011-09-12		2008-12-18	ENSG00000207549	ENSG00000207549		"""ncRNAs / Micro RNAs"""	32113	non-coding RNA	RNA, micro				MIRN521-2			Standard	NR_030203		Approved	hsa-mir-521-2	uc021vag.1				19.37:g.54219912C>T				RNA	SNP	-	NULL	ENST00000384818.1	37	NULL		19																																																																																			MIR521-2	-	-	ENSG00000207549		0.423	MIR521-2-201	KNOWN	basic	miRNA	MIR521-2	HGNC	miRNA		177	0.00	0	C	NR_030203		54219912	54219912	+1	no_errors	ENST00000384818	ensembl	human	known	69_37n	rna	168	30.29	73	SNP	0.085	T
MKL1	57591	genome.wustl.edu	37	22	40859267	40859267	+	5'UTR	SNP	G	G	A			TCGA-A8-A0A9-01A-11W-A019-09	TCGA-A8-A0A9-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	228e66eb-1dc6-4c01-8252-c557a8f53916	80968de5-1de3-4be8-8697-1764f28db89f	g.chr22:40859267G>A	ENST00000355630.3	-	0	555				MKL1_ENST00000407029.1_5'UTR|MKL1_ENST00000402042.1_5'UTR|MKL1_ENST00000402630.1_5'UTR|MKL1_ENST00000396617.3_5'UTR	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1						negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CGGGTCCGGCGCTGCTGGAGT	0.517			T	RBM15	acute megakaryocytic leukemia																																	dbGAP		Dom	yes		22	22q13	57591	megakaryoblastic leukemia (translocation) 1		L	0													136.0	118.0	124.0					22																	40859267		2203	4300	6503	-	-	-	SO:0001623	5_prime_UTR_variant	0			AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.-36C>T	22.37:g.40859267G>A			Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Missense_Mutation	SNP	pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat	p.R16C	ENST00000355630.3	37	c.46	CCDS14003.1	22	.	.	.	.	.	.	.	.	.	.	G	24.3	4.513434	0.85389	.	.	ENSG00000196588	ENST00000422851	D	0.99857	-7.22	5.87	5.87	0.94306	.	.	.	.	.	D	0.99846	0.9929	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.96966	0.9705	6	0.87932	D	0	.	18.7629	0.91860	0.0:0.0:1.0:0.0	.	.	.	.	C	16	ENSP00000398478:R16C	ENSP00000398478:R16C	R	-	1	0	MKL1	39189213	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.150000	0.64869	2.941000	0.99782	0.655000	0.94253	CGC	MKL1	-	pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat	ENSG00000196588		0.517	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MKL1	HGNC	protein_coding	OTTHUMT00000321522.1	390	0.00	0	G	NM_020831		40859267	40859267	-1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000422851	ensembl	human	putative	69_37n	missense	203	19.12	48	SNP	1.000	A
MUC16	94025	genome.wustl.edu	37	19	9086614	9086614	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A0A9-01A-11W-A019-09	TCGA-A8-A0A9-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	228e66eb-1dc6-4c01-8252-c557a8f53916	80968de5-1de3-4be8-8697-1764f28db89f	g.chr19:9086614G>T	ENST00000397910.4	-	1	5404	c.5201C>A	c.(5200-5202)tCt>tAt	p.S1734Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1734	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGTTCAAGAGAGGAGGAGAG	0.498																																						dbGAP											0													140.0	131.0	134.0					19																	9086614		1979	4184	6163	-	-	-	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.5201C>A	19.37:g.9086614G>T	ENSP00000381008:p.Ser1734Tyr		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S1734Y	ENST00000397910.4	37	c.5201	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	g	2.401	-0.337592	0.05278	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	1.33	1.33	0.21861	.	.	.	.	.	T	0.02727	0.0082	N	0.08118	0	.	.	.	D	0.62365	0.991	P	0.51974	0.686	T	0.45175	-0.9279	8	0.87932	D	0	.	6.0442	0.19750	0.0:0.0:1.0:0.0	.	1734	B5ME49	.	Y	1734	ENSP00000381008:S1734Y	ENSP00000381008:S1734Y	S	-	2	0	MUC16	8947614	0.000000	0.05858	0.001000	0.08648	0.095000	0.18619	-0.046000	0.11983	1.011000	0.39340	0.313000	0.20887	TCT	MUC16	-	NULL	ENSG00000181143		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	373	0.00	0	G	NM_024690		9086614	9086614	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	missense	287	23.06	86	SNP	0.001	T
PARVA	55742	genome.wustl.edu	37	11	12495366	12495366	+	Missense_Mutation	SNP	G	G	A	rs138341373	byFrequency	TCGA-A8-A0A9-01A-11W-A019-09	TCGA-A8-A0A9-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	228e66eb-1dc6-4c01-8252-c557a8f53916	80968de5-1de3-4be8-8697-1764f28db89f	g.chr11:12495366G>A	ENST00000550549.1	+	2	260	c.211G>A	c.(211-213)Gag>Aag	p.E71K	PARVA_ENST00000526746.1_3'UTR|PARVA_ENST00000334956.8_Missense_Mutation_p.E111K|PARVA_ENST00000538608.1_Missense_Mutation_p.E18K|PARVA_ENST00000539723.1_Missense_Mutation_p.E71K			Q9NVD7	PARVA_HUMAN	parvin, alpha	71					actin cytoskeleton reorganization (GO:0031532)|actin-mediated cell contraction (GO:0070252)|cell junction assembly (GO:0034329)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|heterotypic cell-cell adhesion (GO:0034113)|outflow tract septum morphogenesis (GO:0003148)|regulation of cell shape (GO:0008360)|smooth muscle cell chemotaxis (GO:0071670)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)	11				Epithelial(150;0.00624)		GCTGGACCCCGAGGACACGAT	0.522													G|||	2	0.000399361	0.0	0.0014	5008	,	,		18633	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													50.0	50.0	50.0					11																	12495366		1968	4146	6114	-	-	-	SO:0001583	missense	0			AF237771	CCDS44541.1, CCDS44541.2	11p15.3	2014-06-13	2005-05-26		ENSG00000197702	ENSG00000197702		"""Parvins"""	14652	protein-coding gene	gene with protein product		608120	"""matrix-remodelling associated 2"""	MXRA2		11171322	Standard	NM_018222		Approved	FLJ12254, FLJ10793	uc001mki.4	Q9NVD7	OTTHUMG00000165778	ENST00000550549.1:c.211G>A	11.37:g.12495366G>A	ENSP00000447198:p.Glu71Lys		Q96C85|Q9HA48	Missense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.E111K	ENST00000550549.1	37	c.331		11	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	22.3	4.273048	0.80580	.	.	ENSG00000197702	ENST00000334956;ENST00000539723;ENST00000550549;ENST00000538608;ENST00000528916	T;T;T;T;T	0.46063	0.88;0.88;0.88;0.88;0.88	5.02	5.02	0.67125	Calponin homology domain (1);	0.180567	0.48286	D	0.000193	T	0.56381	0.1981	M	0.64997	1.995	0.80722	D	1	D;P;P	0.67145	0.996;0.602;0.938	P;B;P	0.56216	0.794;0.063;0.559	T	0.56183	-0.8021	10	0.39692	T	0.17	0.0142	17.8909	0.88871	0.0:0.0:1.0:0.0	.	18;71;71	B7Z952;Q9NVD7;Q9NVD7-2	.;PARVA_HUMAN;.	K	111;71;71;18;35	ENSP00000334008:E111K;ENSP00000438967:E71K;ENSP00000447198:E71K;ENSP00000442960:E18K;ENSP00000435860:E35K	ENSP00000334008:E111K	E	+	1	0	PARVA	12451942	1.000000	0.71417	0.965000	0.40720	0.925000	0.55904	9.370000	0.97159	2.323000	0.78572	0.591000	0.81541	GAG	PARVA	-	superfamily_CH-domain	ENSG00000197702		0.522	PARVA-203	KNOWN	basic|appris_candidate_longest	protein_coding	PARVA	HGNC	protein_coding		25	0.00	0	G	NM_018222		12495366	12495366	+1	no_errors	ENST00000334956	ensembl	human	known	69_37n	missense	15	40.00	10	SNP	1.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-A8-A0A9-01A-11W-A019-09	TCGA-A8-A0A9-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	228e66eb-1dc6-4c01-8252-c557a8f53916	80968de5-1de3-4be8-8697-1764f28db89f	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	176	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	89	43.31	68	SNP	1.000	G
PRRC2C	23215	genome.wustl.edu	37	1	171482185	171482185	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A0A9-01A-11W-A019-09	TCGA-A8-A0A9-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	228e66eb-1dc6-4c01-8252-c557a8f53916	80968de5-1de3-4be8-8697-1764f28db89f	g.chr1:171482185G>A	ENST00000338920.4	+	3	395	c.158G>A	c.(157-159)cGt>cAt	p.R53H	PRRC2C_ENST00000426496.2_Missense_Mutation_p.R53H|PRRC2C_ENST00000476522.1_3'UTR|PRRC2C_ENST00000367742.3_Missense_Mutation_p.R55H|PRRC2C_ENST00000392078.3_Missense_Mutation_p.R55H	NM_015172.3	NP_055987.2	Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	53					hematopoietic progenitor cell differentiation (GO:0002244)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)										ATTTCACGGCGTATGCCTCCA	0.408																																						dbGAP											0													119.0	113.0	115.0					1																	171482185		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL096857	CCDS1296.2	1q24.3	2012-07-18	2010-12-09	2010-12-09	ENSG00000117523	ENSG00000117523			24903	protein-coding gene	gene with protein product			"""BAT2 domain containing 1"", ""HLA-B associated transcript 2-like 2"""	BAT2D1, BAT2L2		10470851, 12443540	Standard	NM_015172		Approved	KIAA1096, XTP2	uc010pmg.2	Q9Y520	OTTHUMG00000034665	ENST00000338920.4:c.158G>A	1.37:g.171482185G>A	ENSP00000343629:p.Arg53His		Q05DM8|Q49A39|Q6PD54|Q9H2N2|Q9HA05|Q9NSM8|Q9NXL3|Q9UF29|Q9UPQ6	Missense_Mutation	SNP	pfam_BAT2_N	p.R55H	ENST00000338920.4	37	c.164	CCDS1296.2	1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.780404	0.70222	.	.	ENSG00000117523	ENST00000392078;ENST00000451306;ENST00000426496;ENST00000367742;ENST00000338920	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.82	5.82	0.92795	BAT2, N-terminal (1);	0.000000	0.47455	D	0.000231	T	0.68632	0.3022	M	0.81341	2.54	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.966;0.997;0.922	T	0.71377	-0.4611	10	0.87932	D	0	.	20.0953	0.97838	0.0:0.0:1.0:0.0	.	53;55;53	Q9Y520-4;E7EPN9;Q9Y520	.;.;PRC2C_HUMAN	H	55;53;53;55;53	ENSP00000375928:R55H;ENSP00000410219:R53H;ENSP00000356716:R55H;ENSP00000343629:R53H	ENSP00000343629:R53H	R	+	2	0	PRRC2C	169748809	1.000000	0.71417	0.990000	0.47175	0.995000	0.86356	9.813000	0.99286	2.767000	0.95098	0.655000	0.94253	CGT	PRRC2C	-	pfam_BAT2_N	ENSG00000117523		0.408	PRRC2C-010	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRRC2C	HGNC	protein_coding	OTTHUMT00000314826.4	227	0.44	1	G	NM_015172		171482185	171482185	+1	no_errors	ENST00000392078	ensembl	human	known	69_37n	missense	241	11.40	31	SNP	1.000	A
PRTG	283659	genome.wustl.edu	37	15	55932020	55932020	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A0A9-01A-11W-A019-09	TCGA-A8-A0A9-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	228e66eb-1dc6-4c01-8252-c557a8f53916	80968de5-1de3-4be8-8697-1764f28db89f	g.chr15:55932020C>T	ENST00000389286.4	-	13	2191	c.2144G>A	c.(2143-2145)cGt>cAt	p.R715H		NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		CATGCGATCACGAACAGCTAT	0.428																																						dbGAP											0													134.0	144.0	141.0					15																	55932020		2034	4163	6197	-	-	-	SO:0001583	missense	0			AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.2144G>A	15.37:g.55932020C>T	ENSP00000373937:p.Arg715His			Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R715H	ENST00000389286.4	37	c.2144	CCDS42040.1	15	.	.	.	.	.	.	.	.	.	.	C	18.67	3.673998	0.67928	.	.	ENSG00000166450	ENST00000389286	T	0.54479	0.57	5.81	5.81	0.92471	Fibronectin, type III (1);	0.000000	0.85682	D	0.000000	T	0.62159	0.2405	L	0.43152	1.355	0.80722	D	1	D	0.89917	1.0	D	0.64410	0.925	T	0.55903	-0.8067	10	0.29301	T	0.29	-14.5022	14.6536	0.68817	0.0:0.855:0.145:0.0	.	715	Q2VWP7	PRTG_HUMAN	H	715	ENSP00000373937:R715H	ENSP00000373937:R715H	R	-	2	0	PRTG	53719312	0.999000	0.42202	0.981000	0.43875	0.998000	0.95712	4.165000	0.58196	2.741000	0.93983	0.655000	0.94253	CGT	PRTG	-	superfamily_Fibronectin_type3	ENSG00000166450		0.428	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRTG	HGNC	protein_coding	OTTHUMT00000419357.1	66	0.00	0	C	NM_173814		55932020	55932020	-1	no_errors	ENST00000389286	ensembl	human	known	69_37n	missense	74	14.94	13	SNP	0.988	T
PTK7	5754	genome.wustl.edu	37	6	43111207	43111207	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A0A9-01A-11W-A019-09	TCGA-A8-A0A9-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	228e66eb-1dc6-4c01-8252-c557a8f53916	80968de5-1de3-4be8-8697-1764f28db89f	g.chr6:43111207G>T	ENST00000230419.4	+	14	2321	c.2100G>T	c.(2098-2100)aaG>aaT	p.K700N	PTK7_ENST00000352931.2_Missense_Mutation_p.K644N|PTK7_ENST00000481273.1_Missense_Mutation_p.K708N|PTK7_ENST00000345201.2_Missense_Mutation_p.K660N|PTK7_ENST00000349241.2_Missense_Mutation_p.K570N	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	700					actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CCCCCTACAAGATGATCCAGA	0.597											OREG0017450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													77.0	78.0	78.0					6																	43111207		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9618	protein-coding gene	gene with protein product		601890	"""PTK7 protein tyrosine kinase 7"""			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.2100G>T	6.37:g.43111207G>T	ENSP00000230419:p.Lys700Asn	913	A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Immunoglobulin,pfam_Prot_kinase_cat_dom,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.K700N	ENST00000230419.4	37	c.2100	CCDS4884.1	6	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248074	0.80024	.	.	ENSG00000112655	ENST00000230419;ENST00000349241;ENST00000352931;ENST00000345201;ENST00000481273	T;T;T;T;T	0.74315	-0.74;-0.83;-0.65;-0.76;-0.76	5.79	5.79	0.91817	.	0.045702	0.85682	D	0.000000	T	0.79851	0.4517	M	0.70595	2.14	0.80722	D	1	B;D;D;D;D	0.76494	0.201;0.997;0.999;0.997;0.997	B;D;D;D;P	0.71656	0.082;0.964;0.973;0.974;0.899	T	0.80690	-0.1270	10	0.49607	T	0.09	.	10.4272	0.44385	0.1439:0.0:0.8561:0.0	.	708;570;660;644;700	E9PFZ5;Q13308-3;Q13308-2;Q13308-4;Q13308	.;.;.;.;PTK7_HUMAN	N	700;570;644;660;708	ENSP00000230419:K700N;ENSP00000325462:K570N;ENSP00000326029:K644N;ENSP00000325992:K660N;ENSP00000418754:K708N	ENSP00000230418:K700N	K	+	3	2	PTK7	43219185	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	3.578000	0.53892	2.733000	0.93635	0.655000	0.94253	AAG	PTK7	-	NULL	ENSG00000112655		0.597	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTK7	HGNC	protein_coding	OTTHUMT00000040580.2	43	0.00	0	G			43111207	43111207	+1	no_errors	ENST00000230419	ensembl	human	known	69_37n	missense	18	40.00	12	SNP	1.000	T
PVALB	5816	genome.wustl.edu	37	22	37209714	37209714	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A0A9-01A-11W-A019-09	TCGA-A8-A0A9-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	228e66eb-1dc6-4c01-8252-c557a8f53916	80968de5-1de3-4be8-8697-1764f28db89f	g.chr22:37209714C>T	ENST00000216200.5	-	4	335	c.280G>A	c.(280-282)Ggg>Agg	p.G94R	PVALB_ENST00000404171.1_Missense_Mutation_p.G62R|CITF22-24E5.1_ENST00000417792.1_RNA|PVALB_ENST00000417718.2_Missense_Mutation_p.G94R	NM_002854.2	NP_002845.1	P20472	PRVA_HUMAN	parvalbumin	94	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cytosolic calcium ion homeostasis (GO:0051480)	axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)			large_intestine(1)|lung(1)|skin(1)	3						TTGCCGTCCCCATCTTTGTCT	0.512																																						dbGAP											0													169.0	149.0	156.0					22																	37209714		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13933.1	22q13.1	2013-01-10			ENSG00000100362	ENSG00000100362		"""EF-hand domain containing"""	9704	protein-coding gene	gene with protein product		168890				1559707, 10591208	Standard	NM_002854		Approved	D22S749	uc003apx.3	P20472	OTTHUMG00000150547	ENST00000216200.5:c.280G>A	22.37:g.37209714C>T	ENSP00000216200:p.Gly94Arg		B2R4H7|P78378|Q4VB78|Q5R3Q9	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Parvalbumin	p.G94R	ENST00000216200.5	37	c.280	CCDS13933.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	19.34|19.34	3.808198|3.808198	0.70797|0.70797	.|.	.|.	ENSG00000100362|ENSG00000100362	ENST00000417718;ENST00000216200;ENST00000404171;ENST00000443735|ENST00000406910	T;T;T;T|.	0.78364|.	-0.72;-0.72;-0.72;-1.17|.	5.41|5.41	5.41|5.41	0.78517|0.78517	EF-hand-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86108|0.86108	0.5854|0.5854	M|M	0.91406|0.91406	3.205|3.205	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.83275|.	0.996|.	D|D	0.88749|0.88749	0.3249|0.3249	10|5	0.72032|.	D|.	0.01|.	-19.9604|-19.9604	19.2254|19.2254	0.93816|0.93816	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	94|.	P20472|.	PRVA_HUMAN|.	R|I	94;94;62;94|92	ENSP00000400247:G94R;ENSP00000216200:G94R;ENSP00000386089:G62R;ENSP00000406977:G94R|.	ENSP00000216200:G94R|.	G|M	-|-	1|3	0|0	PVALB|PVALB	35539660|35539660	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.476000|0.476000	0.33039|0.33039	5.648000|5.648000	0.67930|0.67930	2.541000|2.541000	0.85698|0.85698	0.645000|0.645000	0.84053|0.84053	GGG|ATG	PVALB	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Parvalbumin	ENSG00000100362		0.512	PVALB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PVALB	HGNC	protein_coding	OTTHUMT00000318857.1	81	0.00	0	C	NM_002854		37209714	37209714	-1	no_errors	ENST00000216200	ensembl	human	known	69_37n	missense	11	59.26	16	SNP	1.000	T
QSER1	79832	genome.wustl.edu	37	11	32955992	32955992	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A0A9-01A-11W-A019-09	TCGA-A8-A0A9-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	228e66eb-1dc6-4c01-8252-c557a8f53916	80968de5-1de3-4be8-8697-1764f28db89f	g.chr11:32955992C>T	ENST00000399302.2	+	4	3136	c.2801C>T	c.(2800-2802)cCt>cTt	p.P934L	QSER1_ENST00000527788.1_Missense_Mutation_p.P695L	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	934										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TCACCAGTACCTGCCCTTCAG	0.383																																						dbGAP											0													79.0	72.0	74.0					11																	32955992		1852	4103	5955	-	-	-	SO:0001583	missense	0			AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.2801C>T	11.37:g.32955992C>T	ENSP00000382241:p.Pro934Leu		Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	NULL	p.P934L	ENST00000399302.2	37	c.2801	CCDS41631.1	11	.	.	.	.	.	.	.	.	.	.	C	14.79	2.641883	0.47153	.	.	ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788	T;T	0.24151	2.2;1.87	5.69	3.82	0.43975	.	0.257190	0.34484	N	0.003925	T	0.35098	0.0920	M	0.63428	1.95	0.19300	N	0.99998	D;B;B	0.56287	0.975;0.047;0.028	P;B;B	0.51516	0.672;0.039;0.018	T	0.15122	-1.0448	10	0.30854	T	0.27	.	12.3451	0.55116	0.0:0.8627:0.0:0.1373	.	695;695;934	C9JJ88;Q2KHR3-2;Q2KHR3	.;.;QSER1_HUMAN	L	934;695;695	ENSP00000382241:P934L;ENSP00000432766:P695L	ENSP00000078652:P695L	P	+	2	0	QSER1	32912568	0.955000	0.32602	0.031000	0.17742	0.899000	0.52679	5.028000	0.64115	0.755000	0.32990	0.561000	0.74099	CCT	QSER1	-	NULL	ENSG00000060749		0.383	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QSER1	HGNC	protein_coding	OTTHUMT00000388448.1	202	0.00	0	C	NM_024774		32955992	32955992	+1	no_errors	ENST00000399302	ensembl	human	known	69_37n	missense	68	45.60	57	SNP	0.138	T
RASGRF1	5923	genome.wustl.edu	37	15	79298692	79298692	+	Silent	SNP	G	G	A			TCGA-A8-A0A9-01A-11W-A019-09	TCGA-A8-A0A9-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	228e66eb-1dc6-4c01-8252-c557a8f53916	80968de5-1de3-4be8-8697-1764f28db89f	g.chr15:79298692G>A	ENST00000419573.3	-	15	2224	c.1950C>T	c.(1948-1950)taC>taT	p.Y650Y	RASGRF1_ENST00000558480.2_Silent_p.Y637Y|RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000394745.3_5'Flank	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	650	N-terminal Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00135}.				activation of Rac GTPase activity (GO:0032863)|cell proliferation (GO:0008283)|long-term memory (GO:0007616)|neuron projection development (GO:0031175)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of Rac protein signal transduction (GO:0035020)|regulation of Ras protein signal transduction (GO:0046578)|regulation of synaptic plasticity (GO:0048167)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|growth cone (GO:0030426)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CCACACTGGCGTAGCGGATCT	0.567																																						dbGAP											0													109.0	91.0	97.0					15																	79298692		2196	4293	6489	-	-	-	SO:0001819	synonymous_variant	0			M91815	CCDS10309.1, CCDS42065.1, CCDS45320.1	15q24	2013-01-10			ENSG00000058335	ENSG00000058335		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	9875	protein-coding gene	gene with protein product		606600		GRF1		7684828, 1379731	Standard	NM_153815		Approved	CDC25L, CDC25, GRF55, H-GRF55, GNRP, PP13187	uc002beq.3	Q13972	OTTHUMG00000144172	ENST00000419573.3:c.1950C>T	15.37:g.79298692G>A			F8VPA5|H0YKF2|J3KQP9|Q16027	Silent	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.Y650	ENST00000419573.3	37	c.1950	CCDS10309.1	15																																																																																			RASGRF1	-	pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N	ENSG00000058335		0.567	RASGRF1-001	KNOWN	basic|CCDS	protein_coding	RASGRF1	HGNC	protein_coding	OTTHUMT00000291371.3	36	0.00	0	G	NM_002891		79298692	79298692	-1	no_errors	ENST00000419573	ensembl	human	known	69_37n	silent	19	42.42	14	SNP	0.959	A
SBNO1	55206	genome.wustl.edu	37	12	123812064	123812064	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A0A9-01A-11W-A019-09	TCGA-A8-A0A9-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	228e66eb-1dc6-4c01-8252-c557a8f53916	80968de5-1de3-4be8-8697-1764f28db89f	g.chr12:123812064C>T	ENST00000602398.1	-	13	1728	c.1601G>A	c.(1600-1602)cGa>cAa	p.R534Q	SBNO1_ENST00000602750.1_Missense_Mutation_p.R533Q|SBNO1_ENST00000267176.4_Missense_Mutation_p.R533Q|SBNO1_ENST00000420886.2_Missense_Mutation_p.R534Q			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	534					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		GCTCAGTTGTCGAGCAATGTA	0.373																																						dbGAP											0													68.0	68.0	68.0					12																	123812064		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.1601G>A	12.37:g.123812064C>T	ENSP00000473665:p.Arg534Gln		Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	pfam_Helicase/UvrB_dom,superfamily_Prismane-like	p.R534Q	ENST00000602398.1	37	c.1601	CCDS53844.1	12	.	.	.	.	.	.	.	.	.	.	C	36	5.701344	0.96812	.	.	ENSG00000139697	ENST00000420886;ENST00000267176;ENST00000442601	T;T	0.63744	-0.06;-0.06	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.86602	0.5972	H	0.95712	3.71	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.998;0.99	D	0.89301	0.3626	10	0.87932	D	0	-17.1525	20.5792	0.99380	0.0:1.0:0.0:0.0	.	534;533;532	A3KN83;A3KN83-2;A3KN83-3	SBNO1_HUMAN;.;.	Q	534;533;533	ENSP00000387361:R534Q;ENSP00000267176:R533Q	ENSP00000267176:R533Q	R	-	2	0	SBNO1	122378017	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.794000	0.85869	2.873000	0.98535	0.561000	0.74099	CGA	SBNO1	-	NULL	ENSG00000139697		0.373	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SBNO1	HGNC	protein_coding	OTTHUMT00000467684.1	145	0.00	0	C	NM_018183		123812064	123812064	-1	no_errors	ENST00000420886	ensembl	human	known	69_37n	missense	13	81.69	58	SNP	1.000	T
SLC4A3	6508	genome.wustl.edu	37	2	220502412	220502413	+	Frame_Shift_Ins	INS	-	-	C	rs548755718		TCGA-A8-A0A9-01A-11W-A019-09	TCGA-A8-A0A9-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	228e66eb-1dc6-4c01-8252-c557a8f53916	80968de5-1de3-4be8-8697-1764f28db89f	g.chr2:220502412_220502413insC	ENST00000358055.3	+	17	3157_3158	c.2645_2646insC	c.(2644-2649)ggccccfs	p.GP882fs	SLC4A3_ENST00000373760.2_Frame_Shift_Ins_p.GP882fs|SLC4A3_ENST00000273063.6_Frame_Shift_Ins_p.GP909fs|SLC4A3_ENST00000317151.3_Frame_Shift_Ins_p.GP882fs|SLC4A3_ENST00000373762.3_Frame_Shift_Ins_p.GP909fs			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	882	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCACCGAGGGCCCCCCCAGCC	0.644																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.2652dupC	2.37:g.220502419_220502419dupC	ENSP00000350756:p.Gly882fs		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Frame_Shift_Ins	INS	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk	p.S912fs	ENST00000358055.3	37	c.2726_2727	CCDS2445.1	2																																																																																			SLC4A3	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk	ENSG00000114923		0.644	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SLC4A3	HGNC	protein_coding	OTTHUMT00000316472.1	32	0.00	0	-	NM_005070		220502412	220502413	+1	no_errors	ENST00000273063	ensembl	human	known	69_37n	frame_shift_ins	25	21.88	7	INS	0.018:0.013	C
SMC1A	8243	genome.wustl.edu	37	X	53439190	53439190	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A0A9-01A-11W-A019-09	TCGA-A8-A0A9-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	228e66eb-1dc6-4c01-8252-c557a8f53916	80968de5-1de3-4be8-8697-1764f28db89f	g.chrX:53439190C>G	ENST00000322213.4	-	6	995	c.868G>C	c.(868-870)Gaa>Caa	p.E290Q	SMC1A_ENST00000375340.6_Intron	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	290					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						TGGTTCAATTCTGAGTCCTTC	0.517																																						dbGAP											0													72.0	65.0	67.0					X																	53439190		2203	4300	6503	-	-	-	SO:0001583	missense	0			S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"""Structural maintenance of chromosomes proteins"""	11111	protein-coding gene	gene with protein product		300040	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"""	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.868G>C	X.37:g.53439190C>G	ENSP00000323421:p.Glu290Gln		O14995|Q16351|Q2M228	Missense_Mutation	SNP	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge,prints_Tropomyosin	p.E290Q	ENST00000322213.4	37	c.868	CCDS14352.1	X	.	.	.	.	.	.	.	.	.	.	C	17.58	3.424191	0.62733	.	.	ENSG00000072501	ENST00000322213	T	0.79940	-1.32	4.55	4.55	0.56014	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	D	0.84151	0.5409	L	0.58925	1.835	0.80722	D	1	P;D	0.57899	0.781;0.981	B;P	0.56343	0.334;0.796	T	0.82422	-0.0465	10	0.26408	T	0.33	.	15.5393	0.76027	0.0:1.0:0.0:0.0	.	268;290	Q6MZR8;Q14683	.;SMC1A_HUMAN	Q	290	ENSP00000323421:E290Q	ENSP00000323421:E290Q	E	-	1	0	SMC1A	53455915	1.000000	0.71417	0.986000	0.45419	0.858000	0.48976	4.676000	0.61627	1.995000	0.58328	0.600000	0.82982	GAA	SMC1A	-	pfam_RecF/RecN/SMC	ENSG00000072501		0.517	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC1A	HGNC	protein_coding	OTTHUMT00000056756.2	62	0.00	0	C	NM_006306		53439190	53439190	-1	no_errors	ENST00000322213	ensembl	human	known	69_37n	missense	15	68.75	33	SNP	1.000	G
ST5	6764	genome.wustl.edu	37	11	8732399	8732399	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A0A9-01A-11W-A019-09	TCGA-A8-A0A9-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	228e66eb-1dc6-4c01-8252-c557a8f53916	80968de5-1de3-4be8-8697-1764f28db89f	g.chr11:8732399C>T	ENST00000534127.1	-	14	2730	c.2345G>A	c.(2344-2346)cGc>cAc	p.R782H	ST5_ENST00000357665.1_Missense_Mutation_p.R782H|ST5_ENST00000534278.1_5'Flank|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000526757.1_Missense_Mutation_p.R362H|ST5_ENST00000530438.1_Missense_Mutation_p.R362H|ST5_ENST00000313726.6_Missense_Mutation_p.R782H|ST5_ENST00000530991.1_Missense_Mutation_p.R254H|ST5_ENST00000526099.1_Missense_Mutation_p.R295H	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	782	UDENN.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CACCAGTAAGCGCCTGCAGTA	0.567																																						dbGAP											0													55.0	51.0	53.0					11																	8732399		2201	4296	6497	-	-	-	SO:0001583	missense	0			U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.2345G>A	11.37:g.8732399C>T	ENSP00000433528:p.Arg782His		B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.R782H	ENST00000534127.1	37	c.2345	CCDS7791.1	11	.	.	.	.	.	.	.	.	.	.	C	32	5.120437	0.94385	.	.	ENSG00000166444	ENST00000526757;ENST00000534127;ENST00000313726;ENST00000530991;ENST00000357665;ENST00000526099;ENST00000530438;ENST00000533020	T;T;T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78	5.61	4.69	0.59074	uDENN (3);	0.000000	0.85682	D	0.000000	T	0.57681	0.2070	L	0.33189	0.99	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.988;0.979;0.993	T	0.60772	-0.7197	10	0.87932	D	0	-13.7794	14.8973	0.70654	0.0:0.9301:0.0:0.0699	.	295;362;782	B4DDL8;P78524-2;P78524	.;.;ST5_HUMAN	H	362;782;782;254;782;295;362;254	ENSP00000435097:R362H;ENSP00000433528:R782H;ENSP00000319678:R782H;ENSP00000432887:R254H;ENSP00000350294:R782H;ENSP00000436808:R295H;ENSP00000436802:R362H;ENSP00000433588:R254H	ENSP00000319678:R782H	R	-	2	0	ST5	8688975	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.562000	0.67346	2.652000	0.90054	0.655000	0.94253	CGC	ST5	-	pfam_uDENN_dom,smart_uDENN_dom,pfscan_uDENN_dom	ENSG00000166444		0.567	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ST5	HGNC	protein_coding	OTTHUMT00000386518.1	24	0.00	0	C	NM_005418		8732399	8732399	-1	no_errors	ENST00000313726	ensembl	human	known	69_37n	missense	15	21.05	4	SNP	1.000	T
TNPO2	30000	genome.wustl.edu	37	19	12812575	12812576	+	Frame_Shift_Ins	INS	-	-	C	rs200937372		TCGA-A8-A0A9-01A-11W-A019-09	TCGA-A8-A0A9-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	228e66eb-1dc6-4c01-8252-c557a8f53916	80968de5-1de3-4be8-8697-1764f28db89f	g.chr19:12812575_12812576insC	ENST00000592287.1	-	22	2609_2610	c.2501_2502insG	c.(2500-2502)ggcfs	p.G834fs	TNPO2_ENST00000356861.5_Frame_Shift_Ins_p.G824fs|TNPO2_ENST00000425528.1_Frame_Shift_Ins_p.G834fs|TNPO2_ENST00000450764.2_Frame_Shift_Ins_p.G824fs|TNPO2_ENST00000441499.1_Frame_Shift_Ins_p.G824fs|TNPO2_ENST00000588216.1_Frame_Shift_Ins_p.G824fs	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	834					intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCTGCACAACGCCCCCCGGGTT	0.639																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"""Importins"""	19998	protein-coding gene	gene with protein product	"""importin 3"", ""karyopherin beta 2b"""	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.2502dupG	19.37:g.12812581_12812581dupC	ENSP00000468434:p.Gly834fs		O14655|Q6IN77	Frame_Shift_Ins	INS	pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N	p.V835fs	ENST00000592287.1	37	c.2502_2501	CCDS45991.1	19																																																																																			TNPO2	-	superfamily_ARM-type_fold	ENSG00000105576		0.639	TNPO2-002	KNOWN	basic|CCDS	protein_coding	TNPO2	HGNC	protein_coding	OTTHUMT00000450785.1	11	0.00	0	-	NM_013433		12812575	12812576	-1	no_errors	ENST00000425528	ensembl	human	known	69_37n	frame_shift_ins	8	27.27	3	INS	0.048:1.000	C
TRPC1	7220	genome.wustl.edu	37	3	142443528	142443528	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A0A9-01A-11W-A019-09	TCGA-A8-A0A9-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	228e66eb-1dc6-4c01-8252-c557a8f53916	80968de5-1de3-4be8-8697-1764f28db89f	g.chr3:142443528G>A	ENST00000476941.1	+	1	613	c.127G>A	c.(127-129)Gag>Aag	p.E43K	TRPC1_ENST00000273482.6_Missense_Mutation_p.E43K	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	43					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						GGTGAAGGAGGAGAATACGCT	0.597																																						dbGAP											0													159.0	137.0	145.0					3																	142443528		2203	4300	6503	-	-	-	SO:0001583	missense	0			X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.127G>A	3.37:g.142443528G>A	ENSP00000419313:p.Glu43Lys		Q14CE4	Missense_Mutation	SNP	pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.E43K	ENST00000476941.1	37	c.127	CCDS58856.1	3	.	.	.	.	.	.	.	.	.	.	G	29.3	4.992673	0.93167	.	.	ENSG00000144935	ENST00000476941;ENST00000273482	T;T	0.79554	-0.93;-1.28	4.73	3.85	0.44370	.	0.106971	0.64402	D	0.000006	T	0.61337	0.2339	N	0.08118	0	0.80722	D	1	B;B	0.33637	0.319;0.42	B;B	0.29176	0.034;0.099	T	0.62676	-0.6804	10	0.45353	T	0.12	-9.5269	11.8208	0.52237	0.0832:0.0:0.9168:0.0	.	43;43	P48995;P48995-2	TRPC1_HUMAN;.	K	43	ENSP00000419313:E43K;ENSP00000273482:E43K	ENSP00000273482:E43K	E	+	1	0	TRPC1	143926218	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.204000	0.72143	1.117000	0.41842	0.650000	0.86243	GAG	TRPC1	-	prints_TRPC1_channel,tigrfam_TRP_channel	ENSG00000144935		0.597	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC1	HGNC	protein_coding	OTTHUMT00000354520.1	11	0.00	0	G	NM_003304		142443528	142443528	+1	no_errors	ENST00000476941	ensembl	human	known	69_37n	missense	1	80.00	4	SNP	1.000	A
UBXN4	23190	genome.wustl.edu	37	2	136519446	136519446	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A0A9-01A-11W-A019-09	TCGA-A8-A0A9-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	228e66eb-1dc6-4c01-8252-c557a8f53916	80968de5-1de3-4be8-8697-1764f28db89f	g.chr2:136519446G>C	ENST00000272638.9	+	6	878	c.567G>C	c.(565-567)caG>caC	p.Q189H	UBXN4_ENST00000490163.1_Intron	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	189					response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						GCTCAGATCAGAGACCTGCAG	0.378																																						dbGAP											0													57.0	64.0	62.0					2																	136519446		1864	4093	5957	-	-	-	SO:0001583	missense	0			D87684	CCDS42761.1	2q21.3-q22.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000144224	ENSG00000144224		"""UBX domain containing"""	14860	protein-coding gene	gene with protein product	"""erasin"""	611216	"""UBX domain-containing 2"", ""UBX domain containing 2"""	UBXDC1, UBXD2		16968747	Standard	NM_014607		Approved	KIAA0242	uc002tur.3	Q92575	OTTHUMG00000153577	ENST00000272638.9:c.567G>C	2.37:g.136519446G>C	ENSP00000272638:p.Gln189His		A8K9W4|Q4ZG56|Q8IYM5	Missense_Mutation	SNP	pfam_UBX,superfamily_Thioredoxin-like_fold,smart_UBX,pfscan_UBX	p.Q189H	ENST00000272638.9	37	c.567	CCDS42761.1	2	.	.	.	.	.	.	.	.	.	.	G	12.58	1.981022	0.34942	.	.	ENSG00000144224	ENST00000272638;ENST00000430594	T	0.15256	2.44	5.12	2.23	0.28157	.	0.918303	0.09174	N	0.838444	T	0.16514	0.0397	L	0.47716	1.5	0.36485	D	0.868091	B	0.24368	0.102	B	0.27262	0.078	T	0.07966	-1.0745	10	0.44086	T	0.13	.	6.5177	0.22256	0.3347:0.0:0.6653:0.0	.	189	Q92575	UBXN4_HUMAN	H	189;171	ENSP00000272638:Q189H	ENSP00000272638:Q189H	Q	+	3	2	UBXN4	136235916	1.000000	0.71417	0.986000	0.45419	0.917000	0.54804	0.508000	0.22692	0.224000	0.20940	0.655000	0.94253	CAG	UBXN4	-	NULL	ENSG00000144224		0.378	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBXN4	HGNC	protein_coding	OTTHUMT00000331696.1	59	0.00	0	G	NM_014607		136519446	136519446	+1	no_errors	ENST00000272638	ensembl	human	known	69_37n	missense	32	21.95	9	SNP	0.982	C
TTN	7273	genome.wustl.edu	37	2	179522843	179522843	+	Intron	SNP	C	C	T			TCGA-A8-A0A9-01A-11W-A019-09	TCGA-A8-A0A9-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	228e66eb-1dc6-4c01-8252-c557a8f53916	80968de5-1de3-4be8-8697-1764f28db89f	g.chr2:179522843C>T	ENST00000591111.1	-	154	34579				TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.V12585M|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA			Q8WZ42	TITIN_HUMAN	titin						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)			GGTGGAGCCACGGGAATTTCT	0.408																																						dbGAP											0													84.0	90.0	88.0					2																	179522843		841	1986	2827	-	-	-	SO:0001627	intron_variant	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.34354+588G>A	2.37:g.179522843C>T			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_PPAK_motif,pfam_Titin_Z,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,superfamily_ARM-type_fold,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.V12585M	ENST00000591111.1	37	c.37753		2	.	.	.	.	.	.	.	.	.	.	c	0.591	-0.833025	0.02713	.	.	ENSG00000155657	ENST00000541862	.	.	.	3.34	-5.42	0.02640	.	.	.	.	.	T	0.17662	0.0424	.	.	.	0.09310	N	1	P	0.34587	0.458	B	0.17098	0.017	T	0.08973	-1.0696	7	0.35671	T	0.21	.	9.3788	0.38299	0.1455:0.7084:0.0:0.1461	.	805	Q71S18	.	M	805	.	ENSP00000445986:V805M	V	-	1	0	TTN	179231088	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.626000	0.02035	-0.932000	0.03742	-0.919000	0.02742	GTG	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.408	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	227	0.44	1	C	NM_133378		179522843	179522843	-1	no_errors	ENST00000589042	ensembl	human	putative	69_37n	missense	65	45.38	54	SNP	0.000	T
USP19	10869	genome.wustl.edu	37	3	49153206	49153206	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A0A9-01A-11W-A019-09	TCGA-A8-A0A9-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	228e66eb-1dc6-4c01-8252-c557a8f53916	80968de5-1de3-4be8-8697-1764f28db89f	g.chr3:49153206C>T	ENST00000398888.2	-	10	1652	c.1334G>A	c.(1333-1335)cGc>cAc	p.R445H	USP19_ENST00000398892.3_Missense_Mutation_p.R485H|USP19_ENST00000453664.1_Missense_Mutation_p.R536H|USP19_ENST00000434032.2_Missense_Mutation_p.R546H|USP19_ENST00000398896.1_Missense_Mutation_p.R253H|USP19_ENST00000417901.1_Missense_Mutation_p.R548H|USP19_ENST00000398898.2_Missense_Mutation_p.R485H|USP19_ENST00000488993.1_5'Flank	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	445					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CATGGGTGTGCGGGTTGCCAC	0.602																																						dbGAP											0													92.0	97.0	95.0					3																	49153206		2106	4221	6327	-	-	-	SO:0001583	missense	0			AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.1334G>A	3.37:g.49153206C>T	ENSP00000381863:p.Arg445His		A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	pfam_DUF1872,pfam_Peptidase_C19,pfam_Znf_MYND,pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain,pfscan_Znf_MYND,pfscan_Peptidase_C19	p.R445H	ENST00000398888.2	37	c.1334	CCDS43090.1	3	.	.	.	.	.	.	.	.	.	.	C	15.84	2.951966	0.53293	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032;ENST00000306026	T;T;T;T;T;T;T;T	0.38560	2.0;1.97;2.07;2.07;1.96;2.09;2.06;1.13	6.17	5.25	0.73442	Domain of unknown function DUF1872 (1);	2.210310	0.01451	N	0.015480	T	0.65616	0.2708	L	0.46157	1.445	0.44635	D	0.997616	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;0.998;1.0;0.998	D;D;D;P;P;D;P	0.72625	0.976;0.952;0.976;0.88;0.841;0.978;0.88	T	0.47368	-0.9123	10	0.87932	D	0	-11.6014	16.7427	0.85464	0.0:0.871:0.129:0.0	.	611;546;536;445;485;531;253	A5PKX8;E9PEG8;E7EN22;O94966;B5MEG5;O94966-2;E7ESU0	.;.;.;UBP19_HUMAN;.;.;.	H	253;485;548;536;485;445;546;533	ENSP00000381870:R253H;ENSP00000381872:R485H;ENSP00000395260:R548H;ENSP00000400090:R536H;ENSP00000381867:R485H;ENSP00000381863:R445H;ENSP00000401197:R546H;ENSP00000303503:R533H	ENSP00000303503:R533H	R	-	2	0	USP19	49128210	1.000000	0.71417	0.483000	0.27378	0.350000	0.29205	4.199000	0.58426	2.941000	0.99782	0.655000	0.94253	CGC	USP19	-	pfam_DUF1872	ENSG00000172046		0.602	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	USP19	HGNC	protein_coding	OTTHUMT00000257721.1	20	0.00	0	C	NM_006677		49153206	49153206	-1	no_errors	ENST00000398888	ensembl	human	known	69_37n	missense	3	70.00	7	SNP	0.990	T
ZMYND11	10771	genome.wustl.edu	37	10	292731	292731	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A0A9-01A-11W-A019-09	TCGA-A8-A0A9-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	228e66eb-1dc6-4c01-8252-c557a8f53916	80968de5-1de3-4be8-8697-1764f28db89f	g.chr10:292731C>G	ENST00000397962.3	+	11	1404	c.976C>G	c.(976-978)Caa>Gaa	p.Q326E	ZMYND11_ENST00000602682.1_Missense_Mutation_p.Q241E|ZMYND11_ENST00000473115.1_3'UTR|ZMYND11_ENST00000381602.4_Missense_Mutation_p.Q286E|ZMYND11_ENST00000558098.2_Missense_Mutation_p.Q326E|ZMYND11_ENST00000381591.1_Missense_Mutation_p.Q326E|ZMYND11_ENST00000509513.2_Missense_Mutation_p.Q325E|ZMYND11_ENST00000309776.4_Missense_Mutation_p.Q286E|ZMYND11_ENST00000397959.3_Missense_Mutation_p.Q241E|ZMYND11_ENST00000403354.1_Missense_Mutation_p.Q246E|ZMYND11_ENST00000402736.1_Missense_Mutation_p.Q295E|ZMYND11_ENST00000535374.1_Missense_Mutation_p.Q121E|ZMYND11_ENST00000381607.4_Missense_Mutation_p.Q232E|ZMYND11_ENST00000381604.4_Missense_Mutation_p.Q286E|ZMYND11_ENST00000545619.1_Missense_Mutation_p.Q206E|ZMYND11_ENST00000381584.1_Missense_Mutation_p.Q309E			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	326	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				cell cycle (GO:0007049)|cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription elongation from RNA polymerase II promoter (GO:0034243)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TGAAAACATTCAAGATATCAC	0.468																																						dbGAP											0													75.0	70.0	72.0					10																	292731		2203	4300	6503	-	-	-	SO:0001583	missense	0			X86098	CCDS7052.1, CCDS7053.1, CCDS7052.2, CCDS55696.1, CCDS55697.1, CCDS7053.2, CCDS73060.1, CCDS73061.1	10p14	2011-01-26	2011-01-26		ENSG00000015171	ENSG00000015171		"""Zinc fingers, MYND-type"""	16966	protein-coding gene	gene with protein product		608668	"""zinc finger, MYND domain containing 11"""			7621829, 10734313	Standard	NM_006624		Approved	BS69	uc010pzx.2	Q15326	OTTHUMG00000017526	ENST00000397962.3:c.976C>G	10.37:g.292731C>G	ENSP00000381053:p.Gln326Glu		B2R6G8|B7Z293|F6UH50|Q2LD45|Q2LD46|Q2LD47|Q2LD48|Q5VUI1|Q8N4B3	Missense_Mutation	SNP	pfam_PWWP,pfam_Bromodomain,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain	p.Q326E	ENST00000397962.3	37	c.976	CCDS7052.2	10	.	.	.	.	.	.	.	.	.	.	C	26.7	4.762291	0.89932	.	.	ENSG00000015171	ENST00000397962;ENST00000309776;ENST00000381602;ENST00000509513;ENST00000397959;ENST00000381591;ENST00000403354;ENST00000381607;ENST00000402736;ENST00000381604;ENST00000381584;ENST00000545619;ENST00000535374	T;T;T;T;T;T;T;T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4;-0.4	5.18	5.18	0.71444	PWWP (3);	0.000000	0.85682	D	0.000000	T	0.73753	0.3627	L	0.37800	1.135	0.42021	D	0.990989	P;P;P;P;P;P;P;P;P;P	0.49253	0.921;0.745;0.657;0.657;0.921;0.843;0.921;0.651;0.808;0.921	P;P;P;P;P;P;P;B;B;P	0.61800	0.591;0.567;0.561;0.561;0.591;0.894;0.591;0.378;0.402;0.591	T	0.71258	-0.4646	9	0.35671	T	0.21	-27.9891	19.0629	0.93100	0.0:1.0:0.0:0.0	.	286;326;241;271;326;246;255;272;272;295	Q15326;Q2LD45;B7Z293;B7Z2J6;Q2LD48;B0QZE2;B0QZE3;Q2LD46;Q2LD47;E7ENI9	ZMY11_HUMAN;.;.;.;.;.;.;.;.;.	E	326;286;286;326;241;326;246;232;295;286;309;206;121	ENSP00000381053:Q326E;ENSP00000309992:Q286E;ENSP00000371015:Q286E;ENSP00000381050:Q241E;ENSP00000371003:Q326E;ENSP00000385484:Q246E;ENSP00000371020:Q232E;ENSP00000386010:Q295E;ENSP00000371017:Q286E;ENSP00000370996:Q309E;ENSP00000438461:Q206E;ENSP00000439587:Q121E	ENSP00000309992:Q286E	Q	+	1	0	ZMYND11	282731	1.000000	0.71417	0.883000	0.34634	0.896000	0.52359	7.758000	0.85224	2.568000	0.86640	0.655000	0.94253	CAA	ZMYND11	-	pfam_PWWP,smart_PWWP,pfscan_PWWP	ENSG00000015171		0.468	ZMYND11-206	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYND11	HGNC	protein_coding	OTTHUMT00000046382.4	38	0.00	0	C	NM_006624		292731	292731	+1	no_errors	ENST00000381591	ensembl	human	known	69_37n	missense	18	35.71	10	SNP	1.000	G
ZNF250	58500	genome.wustl.edu	37	8	146107075	146107075	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A0A9-01A-11W-A019-09	TCGA-A8-A0A9-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	228e66eb-1dc6-4c01-8252-c557a8f53916	80968de5-1de3-4be8-8697-1764f28db89f	g.chr8:146107075C>T	ENST00000292579.7	-	6	1624	c.1508G>A	c.(1507-1509)gGc>gAc	p.G503D	ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000417550.2_Missense_Mutation_p.G498D|ZNF250_ENST00000342660.6_Intron	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	503					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		TGGCTTCTCGCCCGTGTGGGT	0.552																																					NSCLC(16;520 556 24096 40084 43446)	dbGAP											0													73.0	61.0	65.0					8																	146107075		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095705	CCDS34972.1, CCDS55282.1	8q24.3	2013-01-08	2004-11-08			ENSG00000196150		"""Zinc fingers, C2H2-type"", ""-"""	13044	protein-coding gene	gene with protein product			"""zinc finger protein 647"""	ZNF647		12477932	Standard	NM_021061		Approved	MGC9718, ZFP647	uc003zer.4	P15622		ENST00000292579.7:c.1508G>A	8.37:g.146107075C>T	ENSP00000292579:p.Gly503Asp		D3DWP1|Q59HE9|Q8N942|Q96AH9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G503D	ENST00000292579.7	37	c.1508	CCDS34972.1	8	.	.	.	.	.	.	.	.	.	.	C	17.59	3.427812	0.62733	.	.	ENSG00000196150	ENST00000292579;ENST00000417550;ENST00000394912	T;T	0.26660	1.72;1.72	3.95	3.95	0.45737	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.48767	D	0.000179	T	0.41236	0.1150	L	0.49699	1.58	0.80722	D	1	P;D	0.60575	0.948;0.988	P;P	0.59424	0.781;0.857	T	0.38090	-0.9677	10	0.87932	D	0	-31.3753	15.9595	0.79918	0.0:1.0:0.0:0.0	.	498;503	D3DWP1;P15622	.;ZN250_HUMAN	D	503;498;386	ENSP00000292579:G503D;ENSP00000393442:G498D	ENSP00000292579:G503D	G	-	2	0	ZNF250	146077879	0.877000	0.30153	0.918000	0.36340	0.374000	0.29953	2.629000	0.46485	2.512000	0.84698	0.484000	0.47621	GGC	ZNF250	-	pfscan_Znf_C2H2	ENSG00000196150		0.552	ZNF250-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF250	HGNC	protein_coding	OTTHUMT00000382968.1	40	0.00	0	C	NM_021061		146107075	146107075	-1	no_errors	ENST00000292579	ensembl	human	known	69_37n	missense	45	22.41	13	SNP	1.000	T
ZNF407	55628	genome.wustl.edu	37	18	72344114	72344114	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A0A9-01A-11W-A019-09	TCGA-A8-A0A9-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	228e66eb-1dc6-4c01-8252-c557a8f53916	80968de5-1de3-4be8-8697-1764f28db89f	g.chr18:72344114G>C	ENST00000299687.5	+	1	1139	c.1139G>C	c.(1138-1140)aGa>aCa	p.R380T	ZNF407_ENST00000309902.6_Missense_Mutation_p.R380T|ZNF407_ENST00000582337.1_Missense_Mutation_p.R380T|ZNF407_ENST00000577538.1_Missense_Mutation_p.R380T	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	380					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		AACCAGAGTAGAAAGCTAGAC	0.423																																						dbGAP											0													64.0	64.0	64.0					18																	72344114		1841	4097	5938	-	-	-	SO:0001583	missense	0			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.1139G>C	18.37:g.72344114G>C	ENSP00000299687:p.Arg380Thr		B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2	p.R380T	ENST00000299687.5	37	c.1139	CCDS45885.1	18	.	.	.	.	.	.	.	.	.	.	A	11.89	1.774143	0.31411	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.09538	2.97;3.42	5.53	1.68	0.24146	.	0.163100	0.21577	U	0.072311	T	0.04679	0.0127	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.08055	0.001;0.003;0.0	T	0.35748	-0.9776	10	0.36615	T	0.2	.	6.1345	0.20223	0.5541:0.3076:0.1382:0.0	.	380;380;380	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	T	380	ENSP00000299687:R380T;ENSP00000310359:R380T	ENSP00000299687:R380T	R	+	2	0	ZNF407	70473102	0.139000	0.22563	0.005000	0.12908	0.179000	0.23085	1.045000	0.30341	1.022000	0.39626	0.528000	0.53228	AGA	ZNF407	-	NULL	ENSG00000215421		0.423	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF407	HGNC	protein_coding	OTTHUMT00000444903.1	116	0.00	0	G	NM_017757		72344114	72344114	+1	no_errors	ENST00000299687	ensembl	human	known	69_37n	missense	37	21.28	10	SNP	0.033	C
