#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
ACVR2B	93	genome.wustl.edu	37	3	38519699	38519699	+	Silent	SNP	C	C	T	rs202022139		TCGA-A2-A1FX-01A-11D-A13L-09	TCGA-A2-A1FX-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0d3dd7a0-ad8d-46cc-86c4-c1994a7b4b74	8d56ba71-9300-4982-8908-7a350aa3b040	g.chr3:38519699C>T	ENST00000352511.4	+	4	910	c.438C>T	c.(436-438)atC>atT	p.I146I		NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB	146					activation of protein kinase activity (GO:0032147)|activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|determination of left/right symmetry (GO:0007368)|embryonic foregut morphogenesis (GO:0048617)|gastrulation with mouth forming second (GO:0001702)|heart development (GO:0007507)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm development (GO:0007498)|odontogenesis of dentin-containing tooth (GO:0042475)|organ growth (GO:0035265)|palate development (GO:0060021)|pancreas development (GO:0031016)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|response to glucose (GO:0009749)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|venous blood vessel development (GO:0060841)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		TGCTGCCCATCGGGGGCCTTT	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		16852	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													59.0	60.0	60.0					3																	38519699		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X77533	CCDS2679.1	3p22	2006-11-06			ENSG00000114739	ENSG00000114739			174	protein-coding gene	gene with protein product		602730				8161782, 9621519	Standard	NM_001106		Approved	ActR-IIB	uc003cif.3	Q13705	OTTHUMG00000131291	ENST00000352511.4:c.438C>T	3.37:g.38519699C>T			Q4VAV0	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Activin_II/TGFBeta-II_recpt	p.I146	ENST00000352511.4	37	c.438	CCDS2679.1	3																																																																																			ACVR2B	-	NULL	ENSG00000114739		0.627	ACVR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR2B	HGNC	protein_coding	OTTHUMT00000254059.3	25	0.00	0	C	NM_001106		38519699	38519699	+1	no_errors	ENST00000352511	ensembl	human	known	69_37n	silent	33	29.17	14	SNP	0.363	T
ATXN1	6310	genome.wustl.edu	37	6	16306707	16306707	+	Silent	SNP	C	C	T			TCGA-A2-A1FX-01A-11D-A13L-09	TCGA-A2-A1FX-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0d3dd7a0-ad8d-46cc-86c4-c1994a7b4b74	8d56ba71-9300-4982-8908-7a350aa3b040	g.chr6:16306707C>T	ENST00000244769.4	-	9	3237	c.2301G>A	c.(2299-2301)gcG>gcA	p.A767A	ATXN1_ENST00000436367.1_Silent_p.A767A	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	767	Interaction with USP7.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				TCCTCGTTGCCGCGGGCTTGC	0.542																																						dbGAP											0													74.0	68.0	70.0					6																	16306707		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.2301G>A	6.37:g.16306707C>T			Q17S02|Q9UJG2|Q9Y4J1	Silent	SNP	pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1	p.A767	ENST00000244769.4	37	c.2301	CCDS34342.1	6																																																																																			ATXN1	-	NULL	ENSG00000124788		0.542	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN1	HGNC	protein_coding	OTTHUMT00000039943.3	78	0.00	0	C	NM_000332		16306707	16306707	-1	no_errors	ENST00000244769	ensembl	human	known	69_37n	silent	96	11.11	12	SNP	0.012	T
ATXN3	4287	genome.wustl.edu	37	14	92562444	92562444	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A1FX-01A-11D-A13L-09	TCGA-A2-A1FX-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0d3dd7a0-ad8d-46cc-86c4-c1994a7b4b74	8d56ba71-9300-4982-8908-7a350aa3b040	g.chr14:92562444G>A	ENST00000532032.1	-	3	236	c.227C>T	c.(226-228)tCt>tTt	p.S76F	ATXN3_ENST00000340660.6_Missense_Mutation_p.S21F|ATXN3_ENST00000502250.1_Intron|ATXN3_ENST00000429774.2_Intron|ATXN3_ENST00000503767.1_Intron|ATXN3_ENST00000545170.1_Missense_Mutation_p.S76F|ATXN3_ENST00000393287.5_Missense_Mutation_p.S76F|ATXN3_ENST00000554491.1_5'UTR			P54252	ATX3_HUMAN	ataxin 3	76	Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|cellular response to misfolded protein (GO:0071218)|intermediate filament cytoskeleton organization (GO:0045104)|microtubule cytoskeleton organization (GO:0000226)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|monoubiquitinated protein deubiquitination (GO:0035520)|nervous system development (GO:0007399)|nucleotide-excision repair (GO:0006289)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell-substrate adhesion (GO:0010810)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|Lys48-specific deubiquitinase activity (GO:1990380)|Lys63-specific deubiquitinase activity (GO:0061578)|omega peptidase activity (GO:0008242)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		TACCTGAATAGAGAAAAAACC	0.448																																					Esophageal Squamous(190;752 2094 29897 44875 49530)	dbGAP											0													121.0	116.0	118.0					14																	92562444		2203	4300	6503	-	-	-	SO:0001583	missense	0			U64820	CCDS9900.1, CCDS32143.1, CCDS45154.1, CCDS53908.1, CCDS73680.1	14q21	2014-09-17	2004-08-12	2004-08-13	ENSG00000066427	ENSG00000066427		"""Ataxins"""	7106	protein-coding gene	gene with protein product		607047	"""Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3)"""	SCA3, MJD		8358439	Standard	NM_004993		Approved	ATX3, JOS	uc001yac.4	P54252	OTTHUMG00000162212	ENST00000532032.1:c.227C>T	14.37:g.92562444G>A	ENSP00000437157:p.Ser76Phe		A7LFZ5|D6RDL9|E9PB63|O15284|O15285|O15286|Q8N189|Q96TC3|Q96TC4|Q9H3N0	Missense_Mutation	SNP	pfam_Josephin,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Josephin,pfscan_Ubiquitin-int_motif,prints_Josephin	p.S76F	ENST00000532032.1	37	c.227		14	.	.	.	.	.	.	.	.	.	.	G	28.1	4.889072	0.91814	.	.	ENSG00000066427	ENST00000545278;ENST00000539555;ENST00000537884;ENST00000545170;ENST00000447800;ENST00000359819;ENST00000393289;ENST00000539454;ENST00000393287;ENST00000340660;ENST00000532032;ENST00000554592;ENST00000553491;ENST00000556220	T;T;T;T;T;T;T	0.54866	0.55;0.55;0.55;0.55;0.55;0.55;1.22	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.81024	0.4737	M	0.93462	3.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.85522	0.1204	10	0.87932	D	0	.	19.7444	0.96247	0.0:0.0:1.0:0.0	.	21;76	P54252-3;P54252-2	.;.	F	76;76;76;76;76;76;76;75;76;21;76;75;76;21	ENSP00000445618:S76F;ENSP00000376965:S76F;ENSP00000339110:S21F;ENSP00000437157:S76F;ENSP00000451385:S75F;ENSP00000451996:S76F;ENSP00000450641:S21F	ENSP00000339110:S21F	S	-	2	0	ATXN3	91632197	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.024000	0.93689	2.729000	0.93468	0.644000	0.83932	TCT	ATXN3	-	pfam_Josephin,pfscan_Josephin,prints_Josephin	ENSG00000066427		0.448	ATXN3-015	KNOWN	basic	protein_coding	ATXN3	HGNC	protein_coding	OTTHUMT00000388065.1	60	0.00	0	G	NM_004993		92562444	92562444	-1	no_errors	ENST00000545170	ensembl	human	known	69_37n	missense	17	19.05	4	SNP	1.000	A
CTNNA1	1495	genome.wustl.edu	37	5	138264934	138264934	+	Splice_Site	SNP	G	G	T			TCGA-A2-A1FX-01A-11D-A13L-09	TCGA-A2-A1FX-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0d3dd7a0-ad8d-46cc-86c4-c1994a7b4b74	8d56ba71-9300-4982-8908-7a350aa3b040	g.chr5:138264934G>T	ENST00000302763.7	+	14	1989		c.e14-1		CTNNA1_ENST00000540387.1_Splice_Site|CTNNA1_ENST00000355078.5_Splice_Site|CTNNA1_ENST00000518825.1_Splice_Site	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa						adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTGGGTGGCAGACCCCTGAGG	0.567																																						dbGAP											0													105.0	108.0	107.0					5																	138264934		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"""catenin (cadherin-associated protein), alpha 1 (102kD)"""			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.1900-1G>T	5.37:g.138264934G>T			Q12795|Q8N1C0	Splice_Site	SNP	-	e13-1	ENST00000302763.7	37	c.1900-1	CCDS34243.1	5	.	.	.	.	.	.	.	.	.	.	G	26.9	4.783940	0.90282	.	.	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825;ENST00000540387	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.3974	0.94612	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CTNNA1	138292833	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.752000	0.94435	0.655000	0.94253	.	CTNNA1	-	-	ENSG00000044115		0.567	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNA1	HGNC	protein_coding	OTTHUMT00000373868.1	39	0.00	0	G	NM_001903	Intron	138264934	138264934	+1	no_errors	ENST00000302763	ensembl	human	known	69_37n	splice_site	46	24.59	15	SNP	1.000	T
ERG	2078	genome.wustl.edu	37	21	39755519	39755519	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A1FX-01A-11D-A13L-09	TCGA-A2-A1FX-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0d3dd7a0-ad8d-46cc-86c4-c1994a7b4b74	8d56ba71-9300-4982-8908-7a350aa3b040	g.chr21:39755519G>T	ENST00000417133.2	-	12	1452	c.1267C>A	c.(1267-1269)Ccg>Acg	p.P423T	ERG_ENST00000288319.7_Missense_Mutation_p.P416T|ERG_ENST00000442448.1_Missense_Mutation_p.P399T|ERG_ENST00000398911.1_Missense_Mutation_p.P399T|ERG_ENST00000453032.2_Missense_Mutation_p.P324T|ERG_ENST00000398897.1_Missense_Mutation_p.P300T|ERG_ENST00000398919.2_Missense_Mutation_p.P423T|ERG_ENST00000398910.1_Missense_Mutation_p.P400T|ERG_ENST00000398907.1_Missense_Mutation_p.P393T|ERG_ENST00000398905.1_Missense_Mutation_p.P392T	NM_001136154.1|NM_001243432.1	NP_001129626.1|NP_001230361.1	Q12809	KCNH2_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	0					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)			Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	CCCATGTACGGGAGGTCTGAG	0.612			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""																																Esophageal Squamous(130;336 1700 3010 3083 40589)	dbGAP		Dom	yes		21	21q22.3	2078	v-ets erythroblastosis virus E26 oncogene like (avian)		"""M, E, L"""	0													71.0	70.0	70.0					21																	39755519		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13657.1, CCDS13658.1, CCDS46648.1, CCDS46649.1, CCDS58789.1	21q22.3	2013-07-09	2013-07-09		ENSG00000157554	ENSG00000157554			3446	protein-coding gene	gene with protein product	"""v-ets avian erythroblastosis virus E26 oncogene related"", ""transcriptional regulator ERG (transforming protein ERG)"", ""v-ets erythroblastosis virus E26 oncogene like"", ""TMPRSS2-ERG prostate cancer specific"""	165080	"""v-ets avian erythroblastosis virus E26 oncogene related"""			3274086	Standard	NM_001136154		Approved	erg-3, p55	uc002yxa.3	P11308	OTTHUMG00000090767	ENST00000417133.2:c.1267C>A	21.37:g.39755519G>T	ENSP00000414150:p.Pro423Thr		A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Missense_Mutation	SNP	pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,prints_Ets,pfscan_Ets	p.P423T	ENST00000417133.2	37	c.1267	CCDS46648.1	21	.	.	.	.	.	.	.	.	.	.	G	12.42	1.931902	0.34096	.	.	ENSG00000157554	ENST00000398905;ENST00000398907;ENST00000288319;ENST00000398897;ENST00000398911;ENST00000417133;ENST00000398910;ENST00000442448;ENST00000453032;ENST00000398919	T;T;T;T;T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56;0.56	5.2	5.2	0.72013	.	0.055506	0.85682	D	0.000000	T	0.44435	0.1293	L	0.29908	0.895	0.80722	D	1	B;B;B;B	0.16166	0.002;0.005;0.016;0.012	B;B;B;B	0.15484	0.004;0.006;0.013;0.012	T	0.24977	-1.0145	10	0.34782	T	0.22	.	18.7596	0.91845	0.0:0.0:1.0:0.0	.	423;392;399;416	P11308;B5MDW0;P11308-1;P11308-4	ERG_HUMAN;.;.;.	T	392;393;416;300;399;423;400;399;324;423	ENSP00000381877:P392T;ENSP00000381879:P393T;ENSP00000288319:P416T;ENSP00000381871:P300T;ENSP00000381882:P399T;ENSP00000414150:P423T;ENSP00000381881:P400T;ENSP00000394694:P399T;ENSP00000396268:P324T;ENSP00000381891:P423T	ENSP00000288319:P416T	P	-	1	0	ERG	38677389	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	3.242000	0.51384	2.404000	0.81709	0.655000	0.94253	CCG	ERG	-	NULL	ENSG00000157554		0.612	ERG-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ERG	HGNC	protein_coding	OTTHUMT00000207532.2	53	0.00	0	G	NM_182918		39755519	39755519	-1	no_errors	ENST00000398919	ensembl	human	known	69_37n	missense	35	14.63	6	SNP	1.000	T
GYPB	2994	genome.wustl.edu	37	4	145035868	145035868	+	Intron	DEL	A	A	-	rs200879866		TCGA-A2-A1FX-01A-11D-A13L-09	TCGA-A2-A1FX-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0d3dd7a0-ad8d-46cc-86c4-c1994a7b4b74	8d56ba71-9300-4982-8908-7a350aa3b040	g.chr4:145035868delA	ENST00000283126.7	-	1	93				GYPA_ENST00000504786.1_Frame_Shift_Del_p.L105fs|GYPA_ENST00000503627.1_Frame_Shift_Del_p.L92fs|GYPA_ENST00000535709.1_Frame_Shift_Del_p.L111fs|RP11-673E1.4_ENST00000506982.1_RNA|GYPA_ENST00000512789.1_Frame_Shift_Del_p.L72fs|GYPA_ENST00000360771.4_Frame_Shift_Del_p.L137fs|GYPA_ENST00000512064.1_Frame_Shift_Del_p.L124fs|GYPA_ENST00000324022.10_Frame_Shift_Del_p.L104fs			P06028	GLPB_HUMAN	glycophorin B (MNS blood group)							integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(1)|large_intestine(2)|skin(1)	4	all_hematologic(180;0.158)					AACAGAACTTAAAGGCACGTC	0.338																																						dbGAP											0													75.0	79.0	78.0					4																	145035868		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0				CCDS54809.1	4q31.21	2014-09-17	2006-02-23			ENSG00000250361		"""CD molecules"", ""Blood group antigens"""	4703	protein-coding gene	gene with protein product		111740	"""glycophorin B (includes Ss blood group)"", ""glycophorin B (Ss blood group)"""	MNS			Standard	NM_002100		Approved	GPB, SS, CD235b		P06028		ENST00000283126.7:c.37+25883T>-	4.37:g.145035868delA			B8Q174|E2QBW7|Q0VAF4|Q58HE9|Q58HF0|Q58HF1|Q9UCH7	Frame_Shift_Del	DEL	pfam_Glycophorin,pirsf_Glycophorin	p.L137fs	ENST00000283126.7	37	c.410		4																																																																																			GYPA	-	pfam_Glycophorin,pirsf_Glycophorin	ENSG00000170180		0.338	GYPB-201	KNOWN	basic|appris_principal	protein_coding	GYPA	HGNC	protein_coding		74	0.00	0	A	NM_002100		145035868	145035868	-1	no_errors	ENST00000360771	ensembl	human	known	69_37n	frame_shift_del	8	20.00	2	DEL	0.001	-
ITPR3	3710	genome.wustl.edu	37	6	33631568	33631568	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A1FX-01A-11D-A13L-09	TCGA-A2-A1FX-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0d3dd7a0-ad8d-46cc-86c4-c1994a7b4b74	8d56ba71-9300-4982-8908-7a350aa3b040	g.chr6:33631568C>G	ENST00000374316.5	+	12	2119	c.1059C>G	c.(1057-1059)tgC>tgG	p.C353W	ITPR3_ENST00000605930.1_Missense_Mutation_p.C353W			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	353	MIR 4. {ECO:0000255|PROSITE- ProRule:PRU00131}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	TCAAGTACTGCCTGGTGGCTG	0.597																																						dbGAP											0													71.0	68.0	69.0					6																	33631568		2203	4300	6503	-	-	-	SO:0001583	missense	0			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.1059C>G	6.37:g.33631568C>G	ENSP00000363435:p.Cys353Trp		Q14649|Q5TAQ2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ARM-type_fold,smart_MIR_motif,pfscan_MIR_motif,prints_InsP3_rcpt-bd	p.C353W	ENST00000374316.5	37	c.1059	CCDS4783.1	6	.	.	.	.	.	.	.	.	.	.	C	12.06	1.823667	0.32237	.	.	ENSG00000096433	ENST00000374316	D	0.86956	-2.19	4.63	2.63	0.31362	MIR motif (2);MIR (2);	0.122450	0.56097	D	0.000033	T	0.62563	0.2438	L	0.34521	1.04	0.32237	N	0.573176	B	0.16603	0.018	B	0.15484	0.013	T	0.52328	-0.8590	10	0.38643	T	0.18	-16.4408	3.8073	0.08782	0.2176:0.5469:0.139:0.0966	.	353	Q14573	ITPR3_HUMAN	W	353	ENSP00000363435:C353W	ENSP00000363435:C353W	C	+	3	2	ITPR3	33739546	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	2.604000	0.46274	1.131000	0.42111	0.491000	0.48974	TGC	ITPR3	-	pfam_MIR,superfamily_MIR,smart_MIR_motif	ENSG00000096433		0.597	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR3	HGNC	protein_coding	OTTHUMT00000040204.2	30	0.00	0	C	NM_002224		33631568	33631568	+1	no_errors	ENST00000374316	ensembl	human	known	69_37n	missense	77	21.21	21	SNP	1.000	G
KRTAP19-2	337969	genome.wustl.edu	37	21	31859634	31859634	+	Missense_Mutation	SNP	A	A	T			TCGA-A2-A1FX-01A-11D-A13L-09	TCGA-A2-A1FX-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0d3dd7a0-ad8d-46cc-86c4-c1994a7b4b74	8d56ba71-9300-4982-8908-7a350aa3b040	g.chr21:31859634A>T	ENST00000334055.3	-	1	121	c.34T>A	c.(34-36)Ttc>Atc	p.F12I		NM_181608.1	NP_853639.1	Q3LHN2	KR192_HUMAN	keratin associated protein 19-2	12						intermediate filament (GO:0005882)				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						AGTCTGCAGAAGCTGCCACAT	0.572																																						dbGAP											0													146.0	143.0	144.0					21																	31859634		2203	4300	6503	-	-	-	SO:0001583	missense	0			AP001708	CCDS13595.1	21q22.1	2006-03-13			ENSG00000186965	ENSG00000186965		"""Keratin associated proteins"""	18937	protein-coding gene	gene with protein product						12359730	Standard	NM_181608		Approved	KAP19.2	uc011acy.2	Q3LHN2	OTTHUMG00000057772	ENST00000334055.3:c.34T>A	21.37:g.31859634A>T	ENSP00000335660:p.Phe12Ile			Missense_Mutation	SNP	pfam_KRTAP	p.F12I	ENST00000334055.3	37	c.34	CCDS13595.1	21	.	.	.	.	.	.	.	.	.	.	-	3.374	-0.127888	0.06753	.	.	ENSG00000186965	ENST00000334055	T	0.08458	3.09	4.31	1.82	0.25136	.	0.447009	0.18891	N	0.128315	T	0.05410	0.0143	.	.	.	0.09310	N	1	P	0.38551	0.636	B	0.32724	0.151	T	0.34551	-0.9824	9	0.87932	D	0	.	3.4557	0.07514	0.6838:0.0:0.1102:0.206	.	12	Q3LHN2	KR192_HUMAN	I	12	ENSP00000335660:F12I	ENSP00000335660:F12I	F	-	1	0	KRTAP19-2	30781505	0.507000	0.26146	0.004000	0.12327	0.007000	0.05969	0.558000	0.23469	0.271000	0.22005	0.533000	0.62120	TTC	KRTAP19-2	-	pfam_KRTAP	ENSG00000186965		0.572	KRTAP19-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP19-2	HGNC	protein_coding	OTTHUMT00000128224.3	63	0.00	0	A			31859634	31859634	-1	no_errors	ENST00000334055	ensembl	human	known	69_37n	missense	29	38.78	19	SNP	0.013	T
KRTAP10-7	386675	genome.wustl.edu	37	21	46020889	46020889	+	Missense_Mutation	SNP	T	T	A			TCGA-A2-A1FX-01A-11D-A13L-09	TCGA-A2-A1FX-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0d3dd7a0-ad8d-46cc-86c4-c1994a7b4b74	8d56ba71-9300-4982-8908-7a350aa3b040	g.chr21:46020889T>A	ENST00000380102.2	+	1	393	c.368T>A	c.(367-369)gTc>gAc	p.V123D	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	123	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						TGCAAGACTGTCTGCTGCAAG	0.632																																						dbGAP											0													116.0	115.0	115.0					21																	46020889		2188	4299	6487	-	-	-	SO:0001583	missense	0			AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"""Keratin associated proteins"""	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.368T>A	21.37:g.46020889T>A	ENSP00000369445:p.Val123Asp		Q0VDJ8|Q70LJ2	Missense_Mutation	SNP	NULL	p.V123D	ENST00000380102.2	37	c.368		21	.	.	.	.	.	.	.	.	.	.	N	4.564	0.104828	0.08731	.	.	ENSG00000205441	ENST00000380102	T	0.00864	5.6	4.05	1.35	0.21983	.	.	.	.	.	T	0.03136	0.0092	M	0.89414	3.03	0.20975	N	0.999812	D	0.58268	0.982	P	0.52481	0.7	T	0.34030	-0.9845	9	0.56958	D	0.05	.	3.9165	0.09225	0.0:0.2196:0.1853:0.595	.	118	P60409-2	.	D	123	ENSP00000369445:V123D	ENSP00000369445:V123D	V	+	2	0	KRTAP10-7	44845317	0.000000	0.05858	0.020000	0.16555	0.015000	0.08874	-0.882000	0.04174	0.536000	0.28733	0.332000	0.21555	GTC	KRTAP10-7	-	NULL	ENSG00000205441		0.632	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	KRTAP10-7	HGNC	protein_coding	OTTHUMT00000128038.1	43	0.00	0	T	NM_198689		46020889	46020889	+1	no_errors	ENST00000380102	ensembl	human	known	69_37n	missense	33	32.65	16	SNP	0.009	A
NRK	203447	genome.wustl.edu	37	X	105132399	105132399	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A1FX-01A-11D-A13L-09	TCGA-A2-A1FX-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0d3dd7a0-ad8d-46cc-86c4-c1994a7b4b74	8d56ba71-9300-4982-8908-7a350aa3b040	g.chrX:105132399G>A	ENST00000243300.9	+	5	668	c.365G>A	c.(364-366)cGg>cAg	p.R122Q	NRK_ENST00000536164.1_Missense_Mutation_p.R122Q|NRK_ENST00000428173.2_Missense_Mutation_p.R122Q	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	122	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CCTGGTCAGCGGCACCAACTT	0.388										HNSCC(51;0.14)																												dbGAP											0													103.0	81.0	87.0					X																	105132399		1873	4096	5969	-	-	-	SO:0001583	missense	0			BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.365G>A	X.37:g.105132399G>A	ENSP00000434830:p.Arg122Gln		Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.R122Q	ENST00000243300.9	37	c.365		X	.	.	.	.	.	.	.	.	.	.	G	13.38	2.219337	0.39201	.	.	ENSG00000123572	ENST00000243300;ENST00000428173;ENST00000536164	T;T;T	0.65732	1.84;1.84;-0.17	5.1	2.87	0.33458	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.169796	0.28977	N	0.013531	T	0.30541	0.0768	N	0.03948	-0.315	0.80722	D	1	B	0.29115	0.233	B	0.21546	0.035	T	0.06679	-1.0813	10	0.33940	T	0.23	.	4.4716	0.11715	0.5086:0.0:0.4914:0.0	.	122	Q7Z2Y5	NRK_HUMAN	Q	122	ENSP00000434830:R122Q;ENSP00000438378:R122Q;ENSP00000438785:R122Q	ENSP00000434830:R122Q	R	+	2	0	NRK	105019055	1.000000	0.71417	0.739000	0.30968	0.983000	0.72400	6.260000	0.72502	1.019000	0.39547	0.594000	0.82650	CGG	NRK	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000123572		0.388	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	NRK	HGNC	protein_coding	OTTHUMT00000106480.6	134	0.74	1	G	NM_198465		105132399	105132399	+1	no_errors	ENST00000428173	ensembl	human	known	69_37n	missense	40	14.89	7	SNP	0.954	A
PIK3C2B	5287	genome.wustl.edu	37	1	204438798	204438798	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A1FX-01A-11D-A13L-09	TCGA-A2-A1FX-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0d3dd7a0-ad8d-46cc-86c4-c1994a7b4b74	8d56ba71-9300-4982-8908-7a350aa3b040	g.chr1:204438798C>T	ENST00000367187.3	-	3	689	c.133G>A	c.(133-135)Gag>Aag	p.E45K	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.E45K	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	45	Interaction with GRB2.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|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)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CTGTTCTCCTCCTTGTCATGC	0.597																																						dbGAP											0													81.0	67.0	72.0					1																	204438798		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.133G>A	1.37:g.204438798C>T	ENSP00000356155:p.Glu45Lys		O95666|Q5SW99	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.E45K	ENST00000367187.3	37	c.133	CCDS1446.1	1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.705987	0.48412	.	.	ENSG00000133056	ENST00000367187;ENST00000424712;ENST00000415899;ENST00000429009	T;T	0.62639	0.01;0.11	5.01	3.15	0.36227	.	0.000000	0.56097	D	0.000036	T	0.44350	0.1289	L	0.27053	0.805	0.31039	N	0.716529	B;B	0.13594	0.008;0.005	B;B	0.14578	0.011;0.005	T	0.38628	-0.9652	10	0.18710	T	0.47	.	9.6142	0.39681	0.0:0.8345:0.0:0.1655	.	45;45	F5GWN5;O00750	.;P3C2B_HUMAN	K	45	ENSP00000356155:E45K;ENSP00000400561:E45K	ENSP00000356155:E45K	E	-	1	0	PIK3C2B	202705421	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	1.974000	0.40559	0.530000	0.28619	-0.463000	0.05309	GAG	PIK3C2B	-	NULL	ENSG00000133056		0.597	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C2B	HGNC	protein_coding	OTTHUMT00000087965.1	50	0.00	0	C	NM_002646		204438798	204438798	-1	no_errors	ENST00000367187	ensembl	human	known	69_37n	missense	10	65.52	19	SNP	1.000	T
PLCH1	23007	genome.wustl.edu	37	3	155232586	155232586	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A2-A1FX-01A-11D-A13L-09	TCGA-A2-A1FX-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0d3dd7a0-ad8d-46cc-86c4-c1994a7b4b74	8d56ba71-9300-4982-8908-7a350aa3b040	g.chr3:155232586C>A	ENST00000340059.7	-	11	1521	c.1522G>T	c.(1522-1524)Gaa>Taa	p.E508*	PLCH1_ENST00000414191.1_Nonsense_Mutation_p.E490*|PLCH1_ENST00000447496.2_Nonsense_Mutation_p.E508*|PLCH1_ENST00000334686.6_Nonsense_Mutation_p.E490*|PLCH1_ENST00000494598.1_Nonsense_Mutation_p.E508*|PLCH1_ENST00000460012.1_Nonsense_Mutation_p.E490*	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	508					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCAGGATCTTCTTTATCTCGA	0.418																																						dbGAP											0													109.0	93.0	99.0					3																	155232586		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.1522G>T	3.37:g.155232586C>A	ENSP00000345988:p.Glu508*		Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Nonsense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.E508*	ENST00000340059.7	37	c.1522	CCDS46939.1	3	.	.	.	.	.	.	.	.	.	.	C	39	7.698172	0.98441	.	.	ENSG00000114805	ENST00000494598;ENST00000460012;ENST00000447496;ENST00000340059;ENST00000334686;ENST00000414191	.	.	.	5.8	5.8	0.92144	.	0.283763	0.35013	N	0.003509	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	20.063	0.97692	0.0:1.0:0.0:0.0	.	.	.	.	X	508;490;508;508;490;490	.	ENSP00000335469:E490X	E	-	1	0	PLCH1	156715280	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.291000	0.78721	2.735000	0.93741	0.655000	0.94253	GAA	PLCH1	-	superfamily_PLC-like_Pdiesterase_TIM-brl	ENSG00000114805		0.418	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCH1	HGNC	protein_coding	OTTHUMT00000351125.1	76	0.00	0	C	NM_014996		155232586	155232586	-1	no_errors	ENST00000340059	ensembl	human	known	69_37n	nonsense	17	22.73	5	SNP	1.000	A
PLD5	200150	genome.wustl.edu	37	1	242451687	242451687	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A1FX-01A-11D-A13L-09	TCGA-A2-A1FX-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0d3dd7a0-ad8d-46cc-86c4-c1994a7b4b74	8d56ba71-9300-4982-8908-7a350aa3b040	g.chr1:242451687G>T	ENST00000536534.2	-	3	713	c.472C>A	c.(472-474)Cac>Aac	p.H158N	PLD5_ENST00000427495.1_Missense_Mutation_p.H96N|PLD5_ENST00000442594.2_Missense_Mutation_p.H66N			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	158						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			GGATGAGTGTGGTTGAGATCC	0.418																																						dbGAP											0													179.0	155.0	163.0					1																	242451687		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.472C>A	1.37:g.242451687G>T	ENSP00000440896:p.His158Asn		A1KXV0|B7Z324|Q494U9|Q8NB22	Missense_Mutation	SNP	smart_PLipase_D/transphosphatidylase	p.H158N	ENST00000536534.2	37	c.472	CCDS1621.2	1	.	.	.	.	.	.	.	.	.	.	G	7.022	0.558975	0.13436	.	.	ENSG00000180287	ENST00000427495;ENST00000442594;ENST00000536534;ENST00000459864	T;T;T;T	0.40756	1.05;1.04;1.04;1.02	4.33	3.33	0.38152	.	0.374794	0.30830	N	0.008784	T	0.16300	0.0392	N	0.02802	-0.49	0.30384	N	0.781702	P;B;P	0.37276	0.589;0.255;0.589	B;B;B	0.33960	0.173;0.038;0.086	T	0.08953	-1.0697	10	0.20046	T	0.44	-27.2579	10.2914	0.43599	0.0:0.0:0.8031:0.1969	.	66;158;96	Q8N7P1-2;Q8N7P1;Q8N7P1-4	.;PLD5_HUMAN;.	N	96;66;158;96	ENSP00000401285:H96N;ENSP00000414188:H66N;ENSP00000440896:H158N;ENSP00000438191:H96N	ENSP00000401285:H96N	H	-	1	0	PLD5	240518310	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.015000	0.64035	2.134000	0.65973	0.591000	0.81541	CAC	PLD5	-	NULL	ENSG00000180287		0.418	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PLD5	HGNC	protein_coding	OTTHUMT00000397213.2	84	0.00	0	G	NM_152666		242451687	242451687	-1	no_errors	ENST00000536534	ensembl	human	known	69_37n	missense	18	57.14	24	SNP	1.000	T
RGMA	56963	genome.wustl.edu	37	15	93588269	93588269	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A1FX-01A-11D-A13L-09	TCGA-A2-A1FX-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0d3dd7a0-ad8d-46cc-86c4-c1994a7b4b74	8d56ba71-9300-4982-8908-7a350aa3b040	g.chr15:93588269C>T	ENST00000329082.7	-	4	1583	c.1312G>A	c.(1312-1314)Gcc>Acc	p.A438T	RGMA_ENST00000556658.1_Missense_Mutation_p.A329T|RGMA_ENST00000538818.1_Missense_Mutation_p.A329T|RGMA_ENST00000542321.2_Missense_Mutation_p.A422T|RGMA_ENST00000543599.1_Missense_Mutation_p.A422T|RGMA_ENST00000557301.1_Missense_Mutation_p.A446T|RGMA_ENST00000425933.2_Missense_Mutation_p.A422T|RGMA_ENST00000557420.1_3'UTR	NM_020211.2	NP_064596	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	438					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|neural tube closure (GO:0001843)|regulation of BMP signaling pathway (GO:0030510)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			GGGACGAGGGCGCCCAGGAGG	0.687																																						dbGAP											0													14.0	15.0	15.0					15																	93588269		1916	4090	6006	-	-	-	SO:0001583	missense	0			AL390083	CCDS45357.1, CCDS53973.1, CCDS53974.1	15q26.1	2013-11-06	2013-11-06			ENSG00000182175			30308	protein-coding gene	gene with protein product		607362	"""RGM domain family, member A"""			15975920	Standard	NM_020211		Approved	RGM, RGMa	uc010urc.2	Q96B86		ENST00000329082.7:c.1312G>A	15.37:g.93588269C>T	ENSP00000330005:p.Ala438Thr		B2RTW1|B7Z5S8|F5GXQ7|F5GZU6|G3V518|Q0JV97|Q8NC80|Q9H0E6|Q9NPM3	Missense_Mutation	SNP	pfam_RGM_N,pfam_RGM_C	p.A438T	ENST00000329082.7	37	c.1312	CCDS45357.1	15	.	.	.	.	.	.	.	.	.	.	C	8.045	0.764648	0.15914	.	.	ENSG00000182175	ENST00000543599;ENST00000425933;ENST00000329082;ENST00000542321;ENST00000538818;ENST00000557301	D;D;D;D;D;D	0.90844	-2.73;-2.73;-2.73;-2.73;-2.36;-2.74	4.57	-4.88	0.03113	.	0.760949	0.12704	N	0.446118	T	0.77896	0.4199	N	0.16478	0.41	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.61637	-0.7022	10	0.20046	T	0.44	-10.5532	9.4623	0.38792	0.0:0.6035:0.1392:0.2573	.	446;438	G3V518;Q96B86	.;RGMA_HUMAN	T	422;422;438;422;329;446	ENSP00000442498:A422T;ENSP00000404442:A422T;ENSP00000330005:A438T;ENSP00000440025:A422T;ENSP00000442546:A329T;ENSP00000452126:A446T	ENSP00000330005:A438T	A	-	1	0	RGMA	91389273	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.103000	0.03329	-1.185000	0.02716	-0.339000	0.08088	GCC	RGMA	-	NULL	ENSG00000182175		0.687	RGMA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RGMA	HGNC	protein_coding	OTTHUMT00000415091.1	8	0.00	0	C	NM_020211		93588269	93588269	-1	no_errors	ENST00000329082	ensembl	human	known	69_37n	missense	12	31.58	6	SNP	0.000	T
SMARCA1	6594	genome.wustl.edu	37	X	128631871	128631871	+	Missense_Mutation	SNP	A	A	T			TCGA-A2-A1FX-01A-11D-A13L-09	TCGA-A2-A1FX-10A-01D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0d3dd7a0-ad8d-46cc-86c4-c1994a7b4b74	8d56ba71-9300-4982-8908-7a350aa3b040	g.chrX:128631871A>T	ENST00000371122.4	-	11	1584	c.1455T>A	c.(1453-1455)agT>agA	p.S485R	SMARCA1_ENST00000371123.1_Missense_Mutation_p.S485R|SMARCA1_ENST00000371121.3_Missense_Mutation_p.S485R	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	485					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						CCATTTTACCACTGTTGCTGA	0.353																																						dbGAP											0													91.0	78.0	83.0					X																	128631871		2203	4300	6503	-	-	-	SO:0001583	missense	0			M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.1455T>A	X.37:g.128631871A>T	ENSP00000360163:p.Ser485Arg		Q5JV41|Q5JV42	Missense_Mutation	SNP	pfam_SNF2_N,pfam_SLIDE,pfam_ATPase_nucl-remodel_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Homeodomain-like,superfamily_ATPase_nucl-remodel_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S485R	ENST00000371122.4	37	c.1455	CCDS14612.1	X	.	.	.	.	.	.	.	.	.	.	A	16.98	3.272211	0.59649	.	.	ENSG00000102038	ENST00000371121;ENST00000371123;ENST00000371122;ENST00000450039	T;T;T;T	0.73897	-0.79;-0.79;-0.79;-0.79	4.77	2.31	0.28768	.	0.000000	0.64402	U	0.000002	D	0.87481	0.6188	H	0.96398	3.815	0.52099	D	0.99994	P;P;D;P	0.55800	0.955;0.955;0.973;0.955	P;P;P;P	0.61800	0.786;0.786;0.894;0.786	D	0.87482	0.2421	10	0.87932	D	0	-13.2301	8.8894	0.35423	0.8391:0.0:0.1609:0.0	.	464;485;485;485	E9PCY3;B7ZLQ5;P28370-2;P28370	.;.;.;SMCA1_HUMAN	R	485;485;485;464	ENSP00000360162:S485R;ENSP00000360164:S485R;ENSP00000360163:S485R;ENSP00000404275:S464R	ENSP00000360162:S485R	S	-	3	2	SMARCA1	128459552	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	1.092000	0.30927	0.518000	0.28383	-1.024000	0.02432	AGT	SMARCA1	-	NULL	ENSG00000102038		0.353	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCA1	HGNC	protein_coding	OTTHUMT00000058206.1	82	0.00	0	A	NM_003069		128631871	128631871	-1	no_errors	ENST00000371122	ensembl	human	known	69_37n	missense	19	34.48	10	SNP	1.000	T
STXBP2	6813	genome.wustl.edu	37	19	7712614	7712614	+	Missense_Mutation	SNP	C	C	G	rs375332778		TCGA-A2-A1FX-01A-11D-A13L-09	TCGA-A2-A1FX-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0d3dd7a0-ad8d-46cc-86c4-c1994a7b4b74	8d56ba71-9300-4982-8908-7a350aa3b040	g.chr19:7712614C>G	ENST00000221283.5	+	19	1731	c.1700C>G	c.(1699-1701)tCc>tGc	p.S567C	STXBP2_ENST00000602355.1_Missense_Mutation_p.S102C|STXBP2_ENST00000441779.2_Missense_Mutation_p.S578C|STXBP2_ENST00000414284.2_Missense_Mutation_p.S564C	NM_006949.2	NP_008880.2	Q15833	STXB2_HUMAN	syntaxin binding protein 2	567					leukocyte mediated cytotoxicity (GO:0001909)|neutrophil degranulation (GO:0043312)|protein transport (GO:0015031)|regulation of mast cell degranulation (GO:0043304)|vesicle docking involved in exocytosis (GO:0006904)	azurophil granule (GO:0042582)|cytolytic granule (GO:0044194)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin-3 binding (GO:0030348)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						TGCACAGGCTCCTCACACATC	0.662																																						dbGAP											0													158.0	154.0	156.0					19																	7712614		2203	4300	6503	-	-	-	SO:0001583	missense	0			U63533	CCDS12181.1, CCDS45948.1, CCDS62522.1	19p13.3-p13.2	2014-09-17				ENSG00000076944			11445	protein-coding gene	gene with protein product		601717				8921365	Standard	NM_001127396		Approved	UNC18B, Hunc18b	uc010xjr.3	Q15833		ENST00000221283.5:c.1700C>G	19.37:g.7712614C>G	ENSP00000221283:p.Ser567Cys		B4E175|E7EQD5|Q9BU65	Missense_Mutation	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.S578C	ENST00000221283.5	37	c.1733	CCDS12181.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.49|15.49	2.848269|2.848269	0.51164|0.51164	.|.	.|.	ENSG00000076944|ENSG00000076944	ENST00000543902|ENST00000221283;ENST00000414284;ENST00000441779	.|D;D;D	.|0.83837	.|-1.77;-1.77;-1.77	4.44|4.44	4.44|4.44	0.53790|0.53790	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.88503|0.88503	0.6454|0.6454	M|M	0.82323|0.82323	2.585|2.585	0.80722|0.80722	D|D	1|1	.|P;P;B;P	.|0.41102	.|0.738;0.623;0.441;0.496	.|B;P;B;B	.|0.50192	.|0.429;0.634;0.303;0.429	D|D	0.90487|0.90487	0.4464|0.4464	6|10	0.72032|0.87932	D|D	0.01|0	-6.1093|-6.1093	14.6898|14.6898	0.69076|0.69076	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|578;533;564;567	.|E7EQD5;B4DY46;Q15833-2;Q15833	.|.;.;.;STXB2_HUMAN	A|C	567|567;564;578	.|ENSP00000221283:S567C;ENSP00000409471:S564C;ENSP00000413606:S578C	ENSP00000446435:P567A|ENSP00000221283:S567C	P|S	+|+	1|2	0|0	STXBP2|STXBP2	7618614|7618614	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.016000|0.016000	0.09150|0.09150	7.528000|7.528000	0.81941|0.81941	2.337000|2.337000	0.79520|0.79520	0.555000|0.555000	0.69702|0.69702	CCT|TCC	STXBP2	-	pfam_Sec1-like,superfamily_Sec1-like	ENSG00000076944		0.662	STXBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STXBP2	HGNC	protein_coding	OTTHUMT00000460963.1	58	0.00	0	C	NM_006949		7712614	7712614	+1	no_errors	ENST00000441779	ensembl	human	known	69_37n	missense	39	28.57	16	SNP	1.000	G
TRRAP	8295	genome.wustl.edu	37	7	98527687	98527687	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A1FX-01A-11D-A13L-09	TCGA-A2-A1FX-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0d3dd7a0-ad8d-46cc-86c4-c1994a7b4b74	8d56ba71-9300-4982-8908-7a350aa3b040	g.chr7:98527687C>T	ENST00000359863.4	+	24	3460	c.3251C>T	c.(3250-3252)tCg>tTg	p.S1084L	TRRAP_ENST00000446306.3_Missense_Mutation_p.S1083L|TRRAP_ENST00000355540.3_Missense_Mutation_p.S1084L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1084					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GAAAATGGCTCGAAAGGAATG	0.498																																						dbGAP											0													130.0	122.0	125.0					7																	98527687		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.3251C>T	7.37:g.98527687C>T	ENSP00000352925:p.Ser1084Leu		A4D265|O75218|Q9Y631|Q9Y6H4	Nonsense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.R799*	ENST00000359863.4	37	c.2395	CCDS59066.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.94|15.94	2.980736|2.980736	0.53827|0.53827	.|.	.|.	ENSG00000196367|ENSG00000196367	ENST00000456197|ENST00000359863;ENST00000355540;ENST00000446306	.|T;T	.|0.64618	.|-0.11;-0.11	5.38|5.38	5.38|5.38	0.77491|0.77491	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.43100	.|0.1232	N|N	0.04508|0.04508	-0.205|-0.205	0.80722|0.80722	D|D	1|1	.|B;B;B	.|0.17038	.|0.005;0.001;0.02	.|B;B;B	.|0.08055	.|0.003;0.0;0.003	.|T	.|0.26780	.|-1.0093	.|10	.|0.29301	.|T	.|0.29	.|.	19.4787|19.4787	0.95000|0.95000	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1084;798;1084	.|Q9Y4A5-2;Q59FH1;Q9Y4A5	.|.;.;TRRAP_HUMAN	X|L	799|1084;1084;1082	.|ENSP00000352925:S1084L;ENSP00000347733:S1084L	.|ENSP00000347733:S1084L	R|S	+|+	1|2	2|0	TRRAP|TRRAP	98365623|98365623	1.000000|1.000000	0.71417|0.71417	0.674000|0.674000	0.29902|0.29902	0.829000|0.829000	0.46940|0.46940	7.344000|7.344000	0.79328|0.79328	2.681000|2.681000	0.91329|0.91329	0.591000|0.591000	0.81541|0.81541	CGA|TCG	TRRAP	-	superfamily_ARM-type_fold	ENSG00000196367		0.498	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	HGNC	protein_coding	OTTHUMT00000317978.1	62	0.00	0	C	NM_003496		98527687	98527687	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000456197	ensembl	human	novel	69_37n	nonsense	20	37.50	12	SNP	0.999	T
UNC13D	201294	genome.wustl.edu	37	17	73836636	73836636	+	Silent	SNP	C	C	T			TCGA-A2-A1FX-01A-11D-A13L-09	TCGA-A2-A1FX-10A-01D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0d3dd7a0-ad8d-46cc-86c4-c1994a7b4b74	8d56ba71-9300-4982-8908-7a350aa3b040	g.chr17:73836636C>T	ENST00000207549.4	-	9	1084	c.705G>A	c.(703-705)aaG>aaA	p.K235K	UNC13D_ENST00000412096.2_Silent_p.K235K|UNC13D_ENST00000587504.1_5'UTR	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	235					defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGCCTTTGTCCTTCCGGGCCT	0.632									Familial Hemophagocytic Lymphohistiocytosis																													dbGAP											0													81.0	86.0	85.0					17																	73836636		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.705G>A	17.37:g.73836636C>T			B4DWG9|Q9H7K5	Silent	SNP	pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.K235	ENST00000207549.4	37	c.705	CCDS11730.1	17																																																																																			UNC13D	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	ENSG00000092929		0.632	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC13D	HGNC	protein_coding	OTTHUMT00000448847.2	64	0.00	0	C	XM_113950		73836636	73836636	-1	no_errors	ENST00000412096	ensembl	human	known	69_37n	silent	23	34.29	12	SNP	1.000	T
ZBTB38	253461	genome.wustl.edu	37	3	141164333	141164333	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A1FX-01A-11D-A13L-09	TCGA-A2-A1FX-10A-01D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0d3dd7a0-ad8d-46cc-86c4-c1994a7b4b74	8d56ba71-9300-4982-8908-7a350aa3b040	g.chr3:141164333G>A	ENST00000514251.1	+	4	3382	c.3103G>A	c.(3103-3105)Gag>Aag	p.E1035K	ZBTB38_ENST00000321464.5_Missense_Mutation_p.E1036K|ZBTB38_ENST00000441582.2_Missense_Mutation_p.E1035K					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						TCACACCGGGGAGAAGCCATA	0.542																																						dbGAP											0													56.0	59.0	58.0					3																	141164333		2054	4197	6251	-	-	-	SO:0001583	missense	0			BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.3103G>A	3.37:g.141164333G>A	ENSP00000426387:p.Glu1035Lys			Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E1036K	ENST00000514251.1	37	c.3106	CCDS43157.1	3	.	.	.	.	.	.	.	.	.	.	G	17.18	3.322668	0.60634	.	.	ENSG00000177311	ENST00000514251;ENST00000441582;ENST00000321464	T;T;T	0.24350	1.86;1.86;1.86	5.76	5.76	0.90799	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.159979	0.43260	D	0.000585	T	0.53302	0.1788	M	0.73319	2.225	0.51012	D	0.999901	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.46665	-0.9175	9	.	.	.	-22.1386	19.9759	0.97304	0.0:0.0:1.0:0.0	.	1036;1035	B4DYR8;Q8NAP3	.;ZBT38_HUMAN	K	1035;1035;1036	ENSP00000426387:E1035K;ENSP00000406955:E1035K;ENSP00000372635:E1036K	.	E	+	1	0	ZBTB38	142647023	1.000000	0.71417	0.949000	0.38748	0.444000	0.32077	4.394000	0.59671	2.713000	0.92767	0.655000	0.94253	GAG	ZBTB38	-	pfscan_Znf_C2H2	ENSG00000177311		0.542	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB38	HGNC	protein_coding	OTTHUMT00000359329.2	27	0.00	0	G			141164333	141164333	+1	no_errors	ENST00000321464	ensembl	human	known	69_37n	missense	27	38.64	17	SNP	0.998	A
ZNF629	23361	genome.wustl.edu	37	16	30793176	30793176	+	Missense_Mutation	SNP	T	T	C			TCGA-A2-A1FX-01A-11D-A13L-09	TCGA-A2-A1FX-10A-01D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0d3dd7a0-ad8d-46cc-86c4-c1994a7b4b74	8d56ba71-9300-4982-8908-7a350aa3b040	g.chr16:30793176T>C	ENST00000262525.4	-	3	2680	c.2473A>G	c.(2473-2475)Agc>Ggc	p.S825G	RP11-2C24.6_ENST00000575562.1_RNA	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	825					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)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			CCATGGCTGCTGCTCTCTGTG	0.612																																						dbGAP											0													70.0	78.0	75.0					16																	30793176		1929	4125	6054	-	-	-	SO:0001583	missense	0			AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"""Zinc fingers, C2H2-type"""	29008	protein-coding gene	gene with protein product			"""zinc finger protein 65"""	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.2473A>G	16.37:g.30793176T>C	ENSP00000262525:p.Ser825Gly		Q15938	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S825G	ENST00000262525.4	37	c.2473	CCDS45463.1	16	.	.	.	.	.	.	.	.	.	.	T	10.92	1.486624	0.26686	.	.	ENSG00000102870	ENST00000262525	T	0.11930	2.73	5.65	4.56	0.56223	.	0.000000	0.50627	D	0.000104	T	0.06325	0.0163	N	0.08118	0	0.26419	N	0.976132	B	0.02656	0.0	B	0.04013	0.001	T	0.14448	-1.0472	10	0.62326	D	0.03	-32.8815	4.5453	0.12078	0.1708:0.088:0.0:0.7412	.	825	Q9UEG4	ZN629_HUMAN	G	825	ENSP00000262525:S825G	ENSP00000262525:S825G	S	-	1	0	ZNF629	30700677	0.000000	0.05858	0.998000	0.56505	0.670000	0.39368	-0.262000	0.08682	2.163000	0.67991	0.459000	0.35465	AGC	ZNF629	-	NULL	ENSG00000102870		0.612	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF629	HGNC	protein_coding	OTTHUMT00000434291.1	36	0.00	0	T	NM_015309		30793176	30793176	-1	no_errors	ENST00000262525	ensembl	human	known	69_37n	missense	44	18.52	10	SNP	0.855	C
