#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ANKLE1	126549	genome.wustl.edu	37	19	17394278	17394278	+	Silent	SNP	G	G	T			TCGA-AR-A1AV-01A-21D-A12Q-09	TCGA-AR-A1AV-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	0a0dd89c-5ec8-4015-9616-733e41361a64	77cb1c29-4009-4669-bdb6-3ec5e74b65d1	g.chr19:17394278G>T	ENST00000394458.3	+	5	981	c.705G>T	c.(703-705)tcG>tcT	p.S235S	ANKLE1_ENST00000404085.1_Silent_p.S257S|ANKLE1_ENST00000594072.1_Silent_p.S224S|ANKLE1_ENST00000433424.2_Silent_p.S289S|ANKLE1_ENST00000598347.1_Silent_p.S235S	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	235										large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						ACCCAGCCTCGGACACTCCCC	0.627																																						dbGAP											0													53.0	58.0	57.0					19																	17394278		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK096688	CCDS12354.2, CCDS12354.3	19p13.11	2013-01-10	2008-03-25	2008-03-25	ENSG00000160117	ENSG00000160117		"""Ankyrin repeat domain containing"""	26812	protein-coding gene	gene with protein product	"""LEM domain containing 6"""		"""ankyrin repeat domain 41"""	ANKRD41			Standard	NM_152363		Approved	FLJ39369, LEMD6	uc002nga.2	Q8NAG6	OTTHUMG00000150839	ENST00000394458.3:c.705G>T	19.37:g.17394278G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8VU82|Q8N8J8	Silent	SNP	pfam_Ankyrin_rpt,pfam_LEM,superfamily_Ankyrin_rpt-contain_dom,superfamily_LEM-like_dom,superfamily_Lactate_DH/Glyco_Ohase_4_C,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_LEM	p.S235	ENST00000394458.3	37	c.705	CCDS12354.2	19																																																																																			ANKLE1	-	superfamily_Lactate_DH/Glyco_Ohase_4_C	ENSG00000160117		0.627	ANKLE1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKLE1	HGNC	protein_coding	OTTHUMT00000325392.2	24	0.00	0	G	NM_152363		17394278	17394278	+1	no_errors	ENST00000404261	ensembl	human	known	69_37n	silent	28	24.32	9	SNP	0.000	T
ANKLE2	23141	genome.wustl.edu	37	12	133312082	133312082	+	Missense_Mutation	SNP	T	T	C			TCGA-AR-A1AV-01A-21D-A12Q-09	TCGA-AR-A1AV-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	0a0dd89c-5ec8-4015-9616-733e41361a64	77cb1c29-4009-4669-bdb6-3ec5e74b65d1	g.chr12:133312082T>C	ENST00000357997.5	-	9	1699	c.1610A>G	c.(1609-1611)aAg>aGg	p.K537R	ANKLE2_ENST00000539605.1_Missense_Mutation_p.K475R|ANKLE2_ENST00000542374.1_5'Flank|ANKLE2_ENST00000337516.5_Missense_Mutation_p.K537R	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	537					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		TTTCCAGAGCTTGCGAAAATC	0.517																																						dbGAP											0													111.0	114.0	113.0					12																	133312082		1969	4162	6131	-	-	-	SO:0001583	missense	0			AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"""Ankyrin repeat domain containing"""	29101	protein-coding gene	gene with protein product	"""LEM domain containing 7"""		"""KIAA0692"""	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.1610A>G	12.37:g.133312082T>C	ENSP00000350686:p.Lys537Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	pfam_LEM,superfamily_LEM-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ribosomal_L9/RNase_H1_N,pfscan_LEM	p.K537R	ENST00000357997.5	37	c.1610	CCDS41869.1	12	.	.	.	.	.	.	.	.	.	.	c	3.618	-0.078168	0.07184	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000337516;ENST00000535036	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.24	-7.93	0.01156	.	0.297022	0.41294	N	0.000905	T	0.14570	0.0352	N	0.01482	-0.84	0.09310	N	0.999999	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.22521	-1.0214	10	0.07482	T	0.82	-15.3695	16.5525	0.84476	0.1036:0.7953:0.0:0.1011	.	537;537	Q86XL3-2;Q86XL3	.;ANKL2_HUMAN	R	475;537;537;100	ENSP00000446268:K475R;ENSP00000350686:K537R;ENSP00000337651:K537R;ENSP00000437585:K100R	ENSP00000337651:K537R	K	-	2	0	ANKLE2	131822155	0.032000	0.19561	0.177000	0.23020	0.862000	0.49288	0.162000	0.16501	-1.375000	0.02129	-2.351000	0.00242	AAG	ANKLE2	-	NULL	ENSG00000176915		0.517	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKLE2	HGNC	protein_coding	OTTHUMT00000397712.1	217	0.00	0	T			133312082	133312082	-1	no_errors	ENST00000357997	ensembl	human	known	69_37n	missense	223	19.78	55	SNP	0.150	C
B3GNT7	93010	genome.wustl.edu	37	2	232262638	232262638	+	Missense_Mutation	SNP	G	G	T			TCGA-AR-A1AV-01A-21D-A12Q-09	TCGA-AR-A1AV-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	0a0dd89c-5ec8-4015-9616-733e41361a64	77cb1c29-4009-4669-bdb6-3ec5e74b65d1	g.chr2:232262638G>T	ENST00000287590.5	+	2	469	c.208G>T	c.(208-210)Gcg>Tcg	p.A70S	AC017104.6_ENST00000415129.1_RNA|B3GNT7_ENST00000479618.1_3'UTR	NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	70					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		AGATGTGGCTGCGCCCACGCC	0.617																																						dbGAP											0													38.0	44.0	42.0					2																	232262638		1937	4131	6068	-	-	-	SO:0001583	missense	0			AK000770	CCDS46540.1	2q36.1	2013-02-21			ENSG00000156966	ENSG00000156966		"""Beta 3-glycosyltransferases"""	18811	protein-coding gene	gene with protein product		615313				12061784	Standard	NM_145236		Approved	beta3GnT7	uc002vrs.3	Q8NFL0	OTTHUMG00000153880	ENST00000287590.5:c.208G>T	2.37:g.232262638G>T	ENSP00000287590:p.Ala70Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWY4|B7WNP0	Missense_Mutation	SNP	pfam_Glyco_trans_31,pfam_Fringe-like	p.A70S	ENST00000287590.5	37	c.208	CCDS46540.1	2	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.785740	0.00628	.	.	ENSG00000156966	ENST00000287590	T	0.33865	1.39	5.17	-7.55	0.01327	.	0.502328	0.18513	U	0.139012	T	0.13114	0.0318	N	0.24115	0.695	0.09310	N	1	B	0.17038	0.02	B	0.16722	0.016	T	0.33675	-0.9859	10	0.09084	T	0.74	.	3.683	0.08317	0.1066:0.1081:0.5316:0.2537	.	70	Q8NFL0	B3GN7_HUMAN	S	70	ENSP00000287590:A70S	ENSP00000287590:A70S	A	+	1	0	B3GNT7	231970882	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.428000	0.06991	-0.854000	0.04131	-1.808000	0.00615	GCG	B3GNT7	-	NULL	ENSG00000156966		0.617	B3GNT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GNT7	HGNC	protein_coding	OTTHUMT00000332827.1	33	0.00	0	G	NM_145236		232262638	232262638	+1	no_errors	ENST00000287590	ensembl	human	known	69_37n	missense	24	25.00	8	SNP	0.000	T
BACH2	60468	genome.wustl.edu	37	6	90660239	90660239	+	Missense_Mutation	SNP	G	G	A	rs576225753		TCGA-AR-A1AV-01A-21D-A12Q-09	TCGA-AR-A1AV-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	0a0dd89c-5ec8-4015-9616-733e41361a64	77cb1c29-4009-4669-bdb6-3ec5e74b65d1	g.chr6:90660239G>A	ENST00000257749.4	-	7	2293	c.1586C>T	c.(1585-1587)gCg>gTg	p.A529V	BACH2_ENST00000537989.1_Missense_Mutation_p.A529V|BACH2_ENST00000343122.3_Missense_Mutation_p.A529V|RP3-512E2.2_ENST00000413986.1_RNA|RP3-512E2.2_ENST00000445838.1_RNA	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	529						cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CCCGTCCTCCGCGTAGGAATA	0.622													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17257	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													55.0	58.0	57.0					6																	90660239		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.1586C>T	6.37:g.90660239G>A	ENSP00000257749:p.Ala529Val	Somatic		WXS	Illumina GAIIx	Phase_IV	E1P518|Q59H70|Q5T793|Q9NTS5	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_bZIP_1,pfam_bZIP_2,superfamily_BTB/POZ_fold,superfamily_Euk_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP	p.A529V	ENST00000257749.4	37	c.1586	CCDS5026.1	6	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288626	0.80914	.	.	ENSG00000112182	ENST00000257749;ENST00000537989;ENST00000343122	T;T;T	0.45276	0.9;0.9;0.9	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.43656	0.1257	N	0.19112	0.55	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	T	0.51309	-0.8722	10	0.59425	D	0.04	-6.4783	18.7377	0.91761	0.0:0.0:1.0:0.0	.	529	Q9BYV9	BACH2_HUMAN	V	529	ENSP00000257749:A529V;ENSP00000437473:A529V;ENSP00000345642:A529V	ENSP00000257749:A529V	A	-	2	0	BACH2	90716960	1.000000	0.71417	0.998000	0.56505	0.866000	0.49608	9.230000	0.95299	2.435000	0.82474	0.460000	0.39030	GCG	BACH2	-	NULL	ENSG00000112182		0.622	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	BACH2	HGNC	protein_coding	OTTHUMT00000041522.2	65	0.00	0	G	NM_021813		90660239	90660239	-1	no_errors	ENST00000257749	ensembl	human	known	69_37n	missense	83	20.95	22	SNP	1.000	A
CDC40	51362	genome.wustl.edu	37	6	110550072	110550072	+	Silent	SNP	C	C	T			TCGA-AR-A1AV-01A-21D-A12Q-09	TCGA-AR-A1AV-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	0a0dd89c-5ec8-4015-9616-733e41361a64	77cb1c29-4009-4669-bdb6-3ec5e74b65d1	g.chr6:110550072C>T	ENST00000368932.1	+	15	1556	c.1455C>T	c.(1453-1455)atC>atT	p.I485I	CDC40_ENST00000445340.2_Intron|CDC40_ENST00000307731.1_Silent_p.I485I|CDC40_ENST00000368930.1_Silent_p.I485I			O60508	PRP17_HUMAN	cell division cycle 40	485					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)|nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		ACAACCAAATCTTAATTTTTG	0.318																																						dbGAP											0													31.0	33.0	33.0					6																	110550072		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0			AF015044	CCDS5081.1	6q22.1	2013-01-17	2013-01-17		ENSG00000168438	ENSG00000168438		"""WD repeat domain containing"""	17350	protein-coding gene	gene with protein product		605585	"""cell division cycle 40 homolog (yeast)"", ""cell division cycle 40 homolog (S. cerevisiae)"""			9769104, 9830021	Standard	NM_015891		Approved	PRP17, EHB3, PRPF17, FLJ10564	uc003pua.3	O60508	OTTHUMG00000015358	ENST00000368932.1:c.1455C>T	6.37:g.110550072C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBC5|O75471|Q5SRN0|Q9UPG1	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I485	ENST00000368932.1	37	c.1455	CCDS5081.1	6																																																																																			CDC40	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000168438		0.318	CDC40-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC40	HGNC	protein_coding	OTTHUMT00000041791.1	133	0.00	0	C	NM_015891		110550072	110550072	+1	no_errors	ENST00000307731	ensembl	human	known	69_37n	silent	90	15.60	17	SNP	1.000	T
CPNE2	221184	genome.wustl.edu	37	16	57180088	57180088	+	Missense_Mutation	SNP	T	T	C			TCGA-AR-A1AV-01A-21D-A12Q-09	TCGA-AR-A1AV-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	0a0dd89c-5ec8-4015-9616-733e41361a64	77cb1c29-4009-4669-bdb6-3ec5e74b65d1	g.chr16:57180088T>C	ENST00000535318.2	+	16	1755	c.1394T>C	c.(1393-1395)aTg>aCg	p.M465T	CPNE2_ENST00000565951.1_3'UTR|CPNE2_ENST00000537605.1_Missense_Mutation_p.M363T|CPNE2_ENST00000565874.1_Missense_Mutation_p.M465T|CPNE2_ENST00000290776.8_Missense_Mutation_p.M465T			Q96FN4	CPNE2_HUMAN	copine II	465	VWFA.					extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				AAGCTGCCCATGTCCATCATC	0.617																																						dbGAP											0													61.0	37.0	45.0					16																	57180088		2198	4299	6497	-	-	-	SO:0001583	missense	0				CCDS10774.1	16q13	2008-02-05			ENSG00000140848	ENSG00000140848			2315	protein-coding gene	gene with protein product		604206				9430674	Standard	NM_152727		Approved	CPN2	uc002eks.2	Q96FN4	OTTHUMG00000133471	ENST00000535318.2:c.1394T>C	16.37:g.57180088T>C	ENSP00000439018:p.Met465Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68D19|Q719H8|Q86XP9	Missense_Mutation	SNP	pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting	p.M465T	ENST00000535318.2	37	c.1394	CCDS10774.1	16	.	.	.	.	.	.	.	.	.	.	T	24.1	4.489557	0.84962	.	.	ENSG00000140848	ENST00000290776;ENST00000537605;ENST00000535318	T;T;T	0.26223	1.75;1.75;1.75	5.52	5.52	0.82312	von Willebrand factor, type A (1);Copine (1);	0.000000	0.85682	D	0.000000	T	0.54919	0.1888	M	0.83603	2.65	0.80722	D	1	D;P;D	0.64830	0.994;0.883;0.971	D;P;P	0.75020	0.985;0.665;0.893	T	0.61917	-0.6964	10	0.87932	D	0	-13.1918	15.6406	0.76997	0.0:0.0:0.0:1.0	.	465;449;465	A8K8A4;B2RD40;Q96FN4	.;.;CPNE2_HUMAN	T	465;363;465	ENSP00000290776:M465T;ENSP00000445468:M363T;ENSP00000439018:M465T	ENSP00000290776:M465T	M	+	2	0	CPNE2	55737589	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.991000	0.88244	2.088000	0.63022	0.454000	0.30748	ATG	CPNE2	-	pfam_Copine,smart_VWF_A	ENSG00000140848		0.617	CPNE2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CPNE2	HGNC	protein_coding	OTTHUMT00000432986.2	34	0.00	0	T	NM_152727		57180088	57180088	+1	no_errors	ENST00000290776	ensembl	human	known	69_37n	missense	27	15.62	5	SNP	1.000	C
DCHS2	54798	genome.wustl.edu	37	4	155157976	155157976	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A1AV-01A-21D-A12Q-09	TCGA-AR-A1AV-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	0a0dd89c-5ec8-4015-9616-733e41361a64	77cb1c29-4009-4669-bdb6-3ec5e74b65d1	g.chr4:155157976G>A	ENST00000357232.4	-	25	6462	c.6463C>T	c.(6463-6465)Cct>Tct	p.P2155S		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2155	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGCTTATAAGGATATTCTGAA	0.418																																						dbGAP											0													80.0	79.0	80.0					4																	155157976		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.6463C>T	4.37:g.155157976G>A	ENSP00000349768:p.Pro2155Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.P2155S	ENST00000357232.4	37	c.6463	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	G	1.531	-0.544429	0.04024	.	.	ENSG00000197410	ENST00000357232	T	0.54479	0.57	5.95	1.99	0.26369	Cadherin (4);Cadherin-like (1);	0.253452	0.33753	N	0.004596	T	0.37461	0.1004	L	0.48986	1.54	0.26284	N	0.978237	B	0.21606	0.058	B	0.24269	0.052	T	0.26780	-1.0093	10	0.07482	T	0.82	.	5.6681	0.17707	0.3165:0.0:0.5542:0.1294	.	2155	Q6V1P9	PCD23_HUMAN	S	2155	ENSP00000349768:P2155S	ENSP00000349768:P2155S	P	-	1	0	DCHS2	155377426	0.765000	0.28485	0.007000	0.13788	0.283000	0.27025	1.458000	0.35223	0.297000	0.22615	0.563000	0.77884	CCT	DCHS2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000197410		0.418	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	128	0.00	0	G	NM_001142552		155157976	155157976	-1	no_errors	ENST00000357232	ensembl	human	known	69_37n	missense	60	27.71	23	SNP	0.130	A
DNAJB5	25822	genome.wustl.edu	37	9	34990767	34990767	+	5'UTR	SNP	T	T	G			TCGA-AR-A1AV-01A-21D-A12Q-09	TCGA-AR-A1AV-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	0a0dd89c-5ec8-4015-9616-733e41361a64	77cb1c29-4009-4669-bdb6-3ec5e74b65d1	g.chr9:34990767T>G	ENST00000541010.1	+	0	549				DNAJB5_ENST00000335998.3_Nonsense_Mutation_p.L9*|DNAJB5_ENST00000312316.5_Intron|DNAJB5_ENST00000454002.2_Nonsense_Mutation_p.L47*|DNAJB5_ENST00000545841.1_Intron|DNAJB5_ENST00000453597.3_Nonsense_Mutation_p.L89*			O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|nucleus (GO:0005634)	chaperone binding (GO:0051087)			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			CTGGAGCCCTTAAAACTTCGA	0.557																																						dbGAP											0													56.0	56.0	56.0					9																	34990767		692	1591	2283	-	-	-	SO:0001623	5_prime_UTR_variant	0			AF088982	CCDS35007.1, CCDS47959.1, CCDS47960.1, CCDS47960.2	9p	2011-09-02			ENSG00000137094	ENSG00000137094		"""Heat shock proteins / DNAJ (HSP40)"""	14887	protein-coding gene	gene with protein product		611328				10570961, 11147971	Standard	NM_001135004		Approved	Hsc40	uc003zvs.4	O75953	OTTHUMG00000019840	ENST00000541010.1:c.-2464T>G	9.37:g.34990767T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KN14|B4DSA6|J3KQM9|J3KR08|Q5T656|Q8TDR7|Q96EM4	Nonsense_Mutation	SNP	pfam_DnaJ_C,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.L47*	ENST00000541010.1	37	c.140	CCDS35007.1	9	.	.	.	.	.	.	.	.	.	.	T	38	6.739823	0.97805	.	.	ENSG00000137094	ENST00000453597;ENST00000335998;ENST00000454002	.	.	.	4.59	4.59	0.56863	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.73	0.51730	0.0:0.0:0.0:1.0	.	.	.	.	X	89;9;47	.	ENSP00000337626:L9X	L	+	2	0	DNAJB5	34980767	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.807000	0.62576	1.709000	0.51313	0.459000	0.35465	TTA	DNAJB5	-	NULL	ENSG00000137094		0.557	DNAJB5-008	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	DNAJB5	HGNC	protein_coding	OTTHUMT00000401397.1	106	0.93	1	T			34990767	34990767	+1	no_errors	ENST00000454002	ensembl	human	known	69_37n	nonsense	43	51.14	45	SNP	1.000	G
DPP8	54878	genome.wustl.edu	37	15	65792988	65792988	+	Missense_Mutation	SNP	T	T	G			TCGA-AR-A1AV-01A-21D-A12Q-09	TCGA-AR-A1AV-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	0a0dd89c-5ec8-4015-9616-733e41361a64	77cb1c29-4009-4669-bdb6-3ec5e74b65d1	g.chr15:65792988T>G	ENST00000341861.5	-	4	2130	c.550A>C	c.(550-552)Agt>Cgt	p.S184R	DPP8_ENST00000300141.6_Missense_Mutation_p.S168R|DPP8_ENST00000339244.5_Missense_Mutation_p.S184R|DPP8_ENST00000321147.6_Missense_Mutation_p.S184R|DPP8_ENST00000358939.4_Missense_Mutation_p.S168R|DPP8_ENST00000559233.1_Missense_Mutation_p.S184R|Y_RNA_ENST00000516408.1_RNA|DPP8_ENST00000321118.7_Missense_Mutation_p.S184R	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	184					immune response (GO:0006955)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TAAATTCCACTACCGGCTTGA	0.393																																						dbGAP											0													181.0	171.0	174.0					15																	65792988		2201	4299	6500	-	-	-	SO:0001583	missense	0			AF221634	CCDS10207.1, CCDS10208.1, CCDS10209.1, CCDS10210.1	15q22	2008-07-18	2006-01-12		ENSG00000074603	ENSG00000074603			16490	protein-coding gene	gene with protein product	"""dipeptidyl peptidase VIII"", ""dipeptidyl peptidase IV-related protein-1"", ""prolyl dipeptidase DPP8"""	606819	"""dipeptidylpeptidase 8"""			11012666	Standard	XM_005254500		Approved	DP8, DPRP1, MSTP141, FLJ14920, FLJ20283, MGC26191	uc002aox.3	Q6V1X1	OTTHUMG00000133150	ENST00000341861.5:c.550A>C	15.37:g.65792988T>G	ENSP00000339208:p.Ser184Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q7Z4C8|Q7Z4D3|Q7Z4E1|Q8IWG7|Q8NEM5|Q96JX1|Q9HBM2|Q9HBM3|Q9HBM4|Q9HBM5|Q9NXF4	Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_X-Pro-like_dom	p.S184R	ENST00000341861.5	37	c.550	CCDS10207.1	15	.	.	.	.	.	.	.	.	.	.	T	20.9	4.061708	0.76187	.	.	ENSG00000074603	ENST00000341861;ENST00000358939;ENST00000300141;ENST00000321147;ENST00000321118;ENST00000339244;ENST00000395652	T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48	5.91	5.91	0.95273	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.35219	0.0924	L	0.52573	1.65	0.29307	N	0.868275	P;P;P;P	0.40731	0.682;0.557;0.682;0.728	B;B;B;B	0.41813	0.252;0.299;0.252;0.367	T	0.37056	-0.9722	10	0.62326	D	0.03	-8.5918	16.3364	0.83064	0.0:0.0:0.0:1.0	.	168;168;184;184	Q6V1X1-3;Q6V1X1-4;Q6V1X1-2;Q6V1X1	.;.;.;DPP8_HUMAN	R	184;168;168;184;184;184;184	ENSP00000339208:S184R;ENSP00000351817:S168R;ENSP00000300141:S168R;ENSP00000318111:S184R;ENSP00000316373:S184R;ENSP00000341230:S184R;ENSP00000379013:S184R	ENSP00000300141:S168R	S	-	1	0	DPP8	63580041	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.436000	0.73417	2.252000	0.74401	0.528000	0.53228	AGT	DPP8	-	pfam_Peptidase_S9B	ENSG00000074603		0.393	DPP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DPP8	HGNC	protein_coding	OTTHUMT00000256847.1	456	0.00	0	T	NM_017743		65792988	65792988	-1	no_errors	ENST00000341861	ensembl	human	known	69_37n	missense	362	20.96	96	SNP	1.000	G
EHD1	10938	genome.wustl.edu	37	11	64622048	64622048	+	Silent	SNP	C	C	T	rs535486154		TCGA-AR-A1AV-01A-21D-A12Q-09	TCGA-AR-A1AV-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	0a0dd89c-5ec8-4015-9616-733e41361a64	77cb1c29-4009-4669-bdb6-3ec5e74b65d1	g.chr11:64622048C>T	ENST00000320631.3	-	5	1616	c.1362G>A	c.(1360-1362)acG>acA	p.T454T	EHD1_ENST00000488711.1_5'UTR|EHD1_ENST00000359393.2_Silent_p.T454T	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	454	EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						CAGGGGACAGCGTGTAGAAGA	0.632																																						dbGAP											0													198.0	161.0	174.0					11																	64622048		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0			AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047		"""EF-hand domain containing"""	3242	protein-coding gene	gene with protein product	"""testilin"""	605888		PAST1		10395801, 10673336	Standard	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.1362G>A	11.37:g.64622048C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O14611|Q2M3Q4|Q9UNR3	Silent	SNP	pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology	p.T454	ENST00000320631.3	37	c.1362	CCDS8084.1	11																																																																																			EHD1	-	smart_EPS15_homology,pfscan_EPS15_homology	ENSG00000110047		0.632	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD1	HGNC	protein_coding	OTTHUMT00000143229.2	107	0.00	0	C	NM_006795		64622048	64622048	-1	no_errors	ENST00000320631	ensembl	human	known	69_37n	silent	44	36.23	25	SNP	0.039	T
EIF3I	8668	genome.wustl.edu	37	1	32694368	32694369	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-AR-A1AV-01A-21D-A12Q-09	TCGA-AR-A1AV-10A-01D-A12Q-09	GG	GG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	0a0dd89c-5ec8-4015-9616-733e41361a64	77cb1c29-4009-4669-bdb6-3ec5e74b65d1	g.chr1:32694368_32694369delGG	ENST00000373586.1	+	8	752_753	c.680_681delGG	c.(679-681)cggfs	p.R227fs	EIF3I_ENST00000471486.1_3'UTR|MTMR9LP_ENST00000441044.1_RNA	NM_003757.2	NP_003748.1			eukaryotic translation initiation factor 3, subunit I									p.R227M(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)				AAGACTTTCCGGACAGAACGTC	0.53																																					Colon(102;1138 2140 2180 17876)	dbGAP											1	Substitution - Missense(1)	lung(1)																																								-	-	-	SO:0001589	frameshift_variant	0			U39067	CCDS357.1	1p34.1	2013-01-10	2007-07-27	2007-07-27	ENSG00000084623	ENSG00000084623		"""WD repeat domain containing"""	3272	protein-coding gene	gene with protein product		603911	"""eukaryotic translation initiation factor 3, subunit 2 beta, 36kDa"""	EIF3S2		7566156, 8995409	Standard	NM_003757		Approved	TRIP-1, eIF3-beta, eIF3-p36, eIF3i	uc009vuc.3	Q13347	OTTHUMG00000007364	ENST00000373586.1:c.680_681delGG	1.37:g.32694368_32694369delGG	ENSP00000362688:p.Arg227fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R227fs	ENST00000373586.1	37	c.680_681	CCDS357.1	1																																																																																			EIF3I	-	superfamily_WD40_repeat_dom	ENSG00000084623		0.530	EIF3I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3I	HGNC	protein_coding	OTTHUMT00000019282.2	160	0.00	0	GG	NM_003757		32694368	32694369	+1	no_errors	ENST00000373586	ensembl	human	known	69_37n	frame_shift_del	108	27.63	42	DEL	1.000:1.000	-
DMTN	2039	genome.wustl.edu	37	8	21931298	21931298	+	Missense_Mutation	SNP	A	A	T			TCGA-AR-A1AV-01A-21D-A12Q-09	TCGA-AR-A1AV-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	0a0dd89c-5ec8-4015-9616-733e41361a64	77cb1c29-4009-4669-bdb6-3ec5e74b65d1	g.chr8:21931298A>T	ENST00000523266.1	+	10	1249	c.787A>T	c.(787-789)Atc>Ttc	p.I263F	DMTN_ENST00000432128.1_Missense_Mutation_p.I263F|DMTN_ENST00000358242.3_Missense_Mutation_p.I263F|DMTN_ENST00000523782.2_Missense_Mutation_p.I238F|DMTN_ENST00000265800.5_Missense_Mutation_p.I263F|DMTN_ENST00000517600.1_Missense_Mutation_p.I223F|DMTN_ENST00000443491.2_Missense_Mutation_p.I238F|DMTN_ENST00000519907.1_Missense_Mutation_p.I263F|DMTN_ENST00000415253.1_Missense_Mutation_p.I263F|DMTN_ENST00000381470.3_Missense_Mutation_p.I263F	NM_001978.2	NP_001969.2	Q08495	DEMA_HUMAN	dematin actin binding protein	263	Interaction with RASGRF2.				actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|actin filament capping (GO:0051693)|actin filament reorganization (GO:0090527)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular response to calcium ion (GO:0071277)|cellular response to cAMP (GO:0071320)|cytoskeleton organization (GO:0007010)|erythrocyte development (GO:0048821)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of platelet aggregation (GO:1901731)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of wound healing (GO:0090303)|protein complex assembly (GO:0006461)|protein secretion by platelet (GO:0070560)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)|regulation of lamellipodium assembly (GO:0010591)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection membrane (GO:0031253)|cortical cytoskeleton (GO:0030863)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|protein self-association (GO:0043621)|receptor binding (GO:0005102)|spectrin binding (GO:0030507)										GTCATTGCCGATCCGAAGGAA	0.522																																						dbGAP											0													127.0	111.0	116.0					8																	21931298		2203	4300	6503	-	-	-	SO:0001583	missense	0			U28389	CCDS6020.1, CCDS47820.1, CCDS47821.1	8p21.1	2013-05-03	2013-05-03	2013-05-03	ENSG00000158856	ENSG00000158856			3382	protein-coding gene	gene with protein product		125305	"""erythrocyte membrane protein band 4.9 (dematin)"""	EPB49		8341682, 12011427	Standard	NM_001978		Approved	DMT		Q08495	OTTHUMG00000097087	ENST00000523266.1:c.787A>T	8.37:g.21931298A>T	ENSP00000427866:p.Ile263Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0T5|B3KP70|B3KRH3|E9PEJ0|Q13215|Q9BRE3	Missense_Mutation	SNP	pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin_headpiece,pfscan_Villin_headpiece	p.I263F	ENST00000523266.1	37	c.787	CCDS6020.1	8	.	.	.	.	.	.	.	.	.	.	A	7.897	0.733466	0.15574	.	.	ENSG00000158856	ENST00000381470;ENST00000432128;ENST00000443491;ENST00000517600;ENST00000541895;ENST00000265800;ENST00000381455;ENST00000358242;ENST00000415253;ENST00000523266;ENST00000519907	T;T;T;T;T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71;1.71	4.39	4.39	0.52855	.	0.352041	0.25146	N	0.032797	T	0.26702	0.0653	N	0.12182	0.205	0.41237	D	0.986612	D;D;D;D;B;D	0.62365	0.973;0.991;0.991;0.991;0.015;0.987	D;P;P;P;B;P	0.64042	0.921;0.593;0.593;0.593;0.009;0.693	T	0.05733	-1.0867	10	0.30078	T	0.28	.	10.0161	0.42016	1.0:0.0:0.0:0.0	.	202;223;263;238;238;263	E9PD40;B4DI75;Q08495;B3KRH3;E9PEJ0;Q08495-2	.;.;DEMA_HUMAN;.;.;.	F	263;263;238;223;223;263;202;263;263;263;263	ENSP00000370879:I263F;ENSP00000416111:I263F;ENSP00000397904:I238F;ENSP00000430618:I223F;ENSP00000265800:I263F;ENSP00000350977:I263F;ENSP00000401291:I263F;ENSP00000427866:I263F;ENSP00000429377:I263F	ENSP00000265800:I263F	I	+	1	0	EPB49	21987244	1.000000	0.71417	0.979000	0.43373	0.959000	0.62525	6.793000	0.75130	1.627000	0.50400	0.379000	0.24179	ATC	EPB49	-	NULL	ENSG00000158856		0.522	DMTN-009	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	EPB49	HGNC	protein_coding	OTTHUMT00000375178.1	195	0.00	0	A	NM_001978		21931298	21931298	+1	no_errors	ENST00000265800	ensembl	human	known	69_37n	missense	74	56.98	98	SNP	0.985	T
STRIP1	85369	genome.wustl.edu	37	1	110586328	110586328	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A1AV-01A-21D-A12Q-09	TCGA-AR-A1AV-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	0a0dd89c-5ec8-4015-9616-733e41361a64	77cb1c29-4009-4669-bdb6-3ec5e74b65d1	g.chr1:110586328G>A	ENST00000369795.3	+	10	1158	c.1136G>A	c.(1135-1137)cGa>cAa	p.R379Q	STRIP1_ENST00000369796.1_Missense_Mutation_p.R284Q	NM_033088.3	NP_149079.2	Q5VSL9	STRP1_HUMAN	striatin interacting protein 1	379					cortical actin cytoskeleton organization (GO:0030866)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)											GATGACTCTCGAGAAGAGGAA	0.547																																						dbGAP											0													73.0	63.0	66.0					1																	110586328		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK027649	CCDS30798.1, CCDS59197.1	1p13.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000143093	ENSG00000143093			25916	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog A (yeast)"""		"""family with sequence similarity 40, member A"""	FAM40A		11214970, 12588993, 22782902, 22298706, 18782753	Standard	NM_033088		Approved	FLJ14743, KIAA1761, FAR11A	uc001dza.2	Q5VSL9	OTTHUMG00000170607	ENST00000369795.3:c.1136G>A	1.37:g.110586328G>A	ENSP00000358810:p.Arg379Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0V925|Q5VSL8|Q658K2|Q6ZV31|Q8N598|Q96SN2|Q9C0A2	Missense_Mutation	SNP	pfam_DUF3402,pfam_N1221	p.R379Q	ENST00000369795.3	37	c.1136	CCDS30798.1	1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.228128	0.58777	.	.	ENSG00000143093	ENST00000369796;ENST00000369795	T;T	0.42900	0.96;0.96	5.97	5.97	0.96955	.	0.063219	0.64402	D	0.000004	T	0.15565	0.0375	L	0.29908	0.895	0.80722	D	1	B;P	0.42993	0.012;0.797	B;B	0.28139	0.004;0.086	T	0.07986	-1.0744	10	0.13108	T	0.6	-7.1486	20.4135	0.99023	0.0:0.0:1.0:0.0	.	284;379	Q5VSL9-2;Q5VSL9	.;FA40A_HUMAN	Q	284;379	ENSP00000358811:R284Q;ENSP00000358810:R379Q	ENSP00000358810:R379Q	R	+	2	0	FAM40A	110387851	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	9.396000	0.97270	2.835000	0.97688	0.591000	0.81541	CGA	FAM40A	-	NULL	ENSG00000143093		0.547	STRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM40A	HGNC	protein_coding	OTTHUMT00000032213.1	78	0.00	0	G	NM_033088		110586328	110586328	+1	no_errors	ENST00000369795	ensembl	human	known	69_37n	missense	75	17.58	16	SNP	1.000	A
GATA3	2625	genome.wustl.edu	37	10	8115973	8115976	+	Frame_Shift_Del	DEL	CCGC	CCGC	-			TCGA-AR-A1AV-01A-21D-A12Q-09	TCGA-AR-A1AV-10A-01D-A12Q-09	CCGC	CCGC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	0a0dd89c-5ec8-4015-9616-733e41361a64	77cb1c29-4009-4669-bdb6-3ec5e74b65d1	g.chr10:8115973_8115976delCCGC	ENST00000346208.3	+	6	1774_1777	c.1319_1322delCCGC	c.(1318-1323)accgccfs	p.TA440fs	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000379328.3_Frame_Shift_Del_p.TA441fs			P23771	GATA3_HUMAN	GATA binding protein 3	440					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.M443fs*>3(1)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						AGCATGGTCACCGCCATGGGTTAG	0.613			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															dbGAP		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	1	Insertion - Frameshift(1)	breast(1)																																								-	-	-	SO:0001589	frameshift_variant	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.1319_1322delCCGC	10.37:g.8115973_8115976delCCGC	ENSP00000341619:p.Thr440fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VWG7|Q5VWG8|Q96J16	Frame_Shift_Del	DEL	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.A442fs	ENST00000346208.3	37	c.1322_1325	CCDS7083.1	10																																																																																			GATA3	-	pirsf_TF_GATA-1/2/3	ENSG00000107485		0.613	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	69	0.00	0	CCGC	NM_001002295		8115973	8115976	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	frame_shift_del	47	41.67	35	DEL	1.000:0.996:1.000:1.000	-
GRIK1	2897	genome.wustl.edu	37	21	31023532	31023532	+	Missense_Mutation	SNP	T	T	C			TCGA-AR-A1AV-01A-21D-A12Q-09	TCGA-AR-A1AV-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	0a0dd89c-5ec8-4015-9616-733e41361a64	77cb1c29-4009-4669-bdb6-3ec5e74b65d1	g.chr21:31023532T>C	ENST00000399907.1	-	6	1271	c.860A>G	c.(859-861)aAc>aGc	p.N287S	GRIK1_ENST00000327783.4_Missense_Mutation_p.N287S|GRIK1_ENST00000399909.1_Missense_Mutation_p.N287S|GRIK1_ENST00000389125.3_Missense_Mutation_p.N287S|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399913.1_Missense_Mutation_p.N287S|GRIK1_ENST00000389124.2_Missense_Mutation_p.N287S|GRIK1_ENST00000399914.1_Missense_Mutation_p.N287S|GRIK1_ENST00000535441.1_Missense_Mutation_p.N287S|GRIK1_ENST00000309434.7_Missense_Mutation_p.N287S	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	287					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	CACGTGAGGGTTGTCAATGTT	0.488																																						dbGAP											0													87.0	72.0	77.0					21																	31023532		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.860A>G	21.37:g.31023532T>C	ENSP00000382791:p.Asn287Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q13001|Q86SU9	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.N287S	ENST00000399907.1	37	c.860	CCDS42913.1	21	.	.	.	.	.	.	.	.	.	.	T	12.87	2.066084	0.36470	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	D;D;D;D;D;D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5;-1.5;-1.5;-1.5;-1.5;-1.5	5.11	5.11	0.69529	Extracellular ligand-binding receptor (1);	0.088736	0.85682	D	0.000000	T	0.67887	0.2941	N	0.17564	0.495	0.58432	D	0.999998	B;B;B;B;B;B	0.12013	0.004;0.004;0.005;0.004;0.004;0.001	B;B;B;B;B;B	0.10450	0.003;0.003;0.001;0.003;0.005;0.002	T	0.62973	-0.6740	10	0.27785	T	0.31	.	15.0098	0.71542	0.0:0.0:0.0:1.0	.	287;287;287;287;287;287	E7EPY9;E9PD61;E7EPZ0;B7Z3V7;P39086;P39086-2	.;.;.;.;GRIK1_HUMAN;.	S	287;287;287;287;287;231;287;287;287;287	ENSP00000327687:N287S;ENSP00000373777:N287S;ENSP00000382797:N287S;ENSP00000382798:N287S;ENSP00000446326:N287S;ENSP00000373776:N287S;ENSP00000382791:N287S;ENSP00000382793:N287S;ENSP00000311646:N287S	ENSP00000311646:N287S	N	-	2	0	GRIK1	29945403	1.000000	0.71417	1.000000	0.80357	0.485000	0.33311	4.666000	0.61554	2.258000	0.74832	0.533000	0.62120	AAC	GRIK1	-	pfam_ANF_lig-bd_rcpt	ENSG00000171189		0.488	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIK1	HGNC	protein_coding	OTTHUMT00000171979.1	103	0.00	0	T			31023532	31023532	-1	no_errors	ENST00000535441	ensembl	human	known	69_37n	missense	78	39.23	51	SNP	1.000	C
HERC2P4	100289574	genome.wustl.edu	37	16	32163607	32163607	+	IGR	SNP	G	G	A			TCGA-AR-A1AV-01A-21D-A12Q-09	TCGA-AR-A1AV-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	0a0dd89c-5ec8-4015-9616-733e41361a64	77cb1c29-4009-4669-bdb6-3ec5e74b65d1	g.chr16:32163607G>A								RP11-1166P10.6 (67501 upstream) : HERC2P4 (17697 downstream)																							AGCCAGGACCGCCATGAGGCC	0.602																																						dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0																															16.37:g.32163607G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL		37	NULL		16																																																																																			HERC2P4	-	-	ENSG00000230267	0	0.602					HERC2P4	HGNC			102	0.00	0	G			32163607	32163607	-1	no_errors	ENST00000563904	ensembl	human	known	69_37n	rna	140	11.39	18	SNP	1.000	A
HTR2A	3356	genome.wustl.edu	37	13	47469795	47469795	+	Missense_Mutation	SNP	C	C	T	rs539430264		TCGA-AR-A1AV-01A-21D-A12Q-09	TCGA-AR-A1AV-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	0a0dd89c-5ec8-4015-9616-733e41361a64	77cb1c29-4009-4669-bdb6-3ec5e74b65d1	g.chr13:47469795C>T	ENST00000378688.4	-	1	378	c.247G>A	c.(247-249)Gta>Ata	p.V83I	HTR2A_ENST00000542664.1_Missense_Mutation_p.V83I|HTR2A_ENST00000543956.1_Intron			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	83					activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|behavioral response to cocaine (GO:0048148)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|memory (GO:0007613)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of vasoconstriction (GO:0045907)|protein localization to cytoskeleton (GO:0044380)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|regulation of hormone secretion (GO:0046883)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|sleep (GO:0030431)|synaptic transmission (GO:0007268)|temperature homeostasis (GO:0001659)|urinary bladder smooth muscle contraction (GO:0014832)	cell body fiber (GO:0070852)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	ATAATCACTACGGCTGTCAGT	0.448													C|||	1	0.000199681	0.0	0.0	5008	,	,		20236	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													135.0	125.0	129.0					13																	47469795		2203	4300	6503	-	-	-	SO:0001583	missense	0			X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5293	protein-coding gene	gene with protein product		182135	"""5-hydroxytryptamine (serotonin) receptor 2A"""	HTR2		8035173	Standard	NM_000621		Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.247G>A	13.37:g.47469795C>T	ENSP00000367959:p.Val83Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_5HT2A_rcpt,prints_7TM_GPCR_Rhodpsn,prints_5HT_rcpt	p.V83I	ENST00000378688.4	37	c.247	CCDS9405.1	13	.	.	.	.	.	.	.	.	.	.	C	8.025	0.760510	0.15914	.	.	ENSG00000102468	ENST00000378688;ENST00000542664	T;T	0.19938	2.11;2.11	5.8	3.76	0.43208	.	0.337294	0.28989	N	0.013497	T	0.08268	0.0206	N	0.04880	-0.145	0.20196	N	0.999925	B	0.12013	0.005	B	0.10450	0.005	T	0.35051	-0.9804	10	0.11485	T	0.65	.	7.0295	0.24958	0.0:0.6795:0.0:0.3205	.	83	P28223	5HT2A_HUMAN	I	83	ENSP00000367959:V83I;ENSP00000437737:V83I	ENSP00000367959:V83I	V	-	1	0	HTR2A	46367796	0.256000	0.24012	0.995000	0.50966	0.995000	0.86356	0.297000	0.19101	1.450000	0.47717	0.650000	0.86243	GTA	HTR2A	-	prints_7TM_GPCR_Rhodpsn	ENSG00000102468		0.448	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR2A	HGNC	protein_coding	OTTHUMT00000044835.3	262	0.38	1	C	NM_000621		47469795	47469795	-1	no_errors	ENST00000378688	ensembl	human	known	69_37n	missense	233	20.48	60	SNP	0.061	T
INSRR	3645	genome.wustl.edu	37	1	156813013	156813013	+	Missense_Mutation	SNP	T	T	C			TCGA-AR-A1AV-01A-21D-A12Q-09	TCGA-AR-A1AV-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	0a0dd89c-5ec8-4015-9616-733e41361a64	77cb1c29-4009-4669-bdb6-3ec5e74b65d1	g.chr1:156813013T>C	ENST00000368195.3	-	17	3305	c.2909A>G	c.(2908-2910)gAt>gGt	p.D970G	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	970					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTCCCATTCATCAGGGACATA	0.572																																						dbGAP											0													56.0	51.0	53.0					1																	156813013		2203	4300	6503	-	-	-	SO:0001583	missense	0			J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.2909A>G	1.37:g.156813013T>C	ENSP00000357178:p.Asp970Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O60724|Q5VZS3	Missense_Mutation	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D970G	ENST00000368195.3	37	c.2909	CCDS1160.1	1	.	.	.	.	.	.	.	.	.	.	T	19.60	3.858824	0.71834	.	.	ENSG00000027644	ENST00000368195	D	0.89196	-2.48	4.92	4.92	0.64577	Protein kinase-like domain (1);	0.000000	0.48767	D	0.000162	D	0.93171	0.7825	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94205	0.7453	9	0.87932	D	0	.	13.5129	0.61524	0.0:0.0:0.0:1.0	.	970	P14616	INSRR_HUMAN	G	970	ENSP00000357178:D970G	ENSP00000357178:D970G	D	-	2	0	INSRR	155079637	1.000000	0.71417	0.987000	0.45799	0.873000	0.50193	7.864000	0.87037	2.057000	0.61298	0.482000	0.46254	GAT	INSRR	-	pirsf_Tyr_kinase_insulin-like_rcpt,superfamily_Kinase-like_dom	ENSG00000027644		0.572	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INSRR	HGNC	protein_coding	OTTHUMT00000098929.1	115	0.86	1	T	NM_014215		156813013	156813013	-1	no_errors	ENST00000368195	ensembl	human	known	69_37n	missense	235	13.28	36	SNP	1.000	C
LRBA	987	genome.wustl.edu	37	4	151356833	151356833	+	Missense_Mutation	SNP	A	A	T			TCGA-AR-A1AV-01A-21D-A12Q-09	TCGA-AR-A1AV-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	0a0dd89c-5ec8-4015-9616-733e41361a64	77cb1c29-4009-4669-bdb6-3ec5e74b65d1	g.chr4:151356833A>T	ENST00000357115.3	-	47	7225	c.6982T>A	c.(6982-6984)Ttg>Atg	p.L2328M	LRBA_ENST00000507224.1_Missense_Mutation_p.L2317M|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000510413.1_Missense_Mutation_p.L2317M|LRBA_ENST00000535741.1_Missense_Mutation_p.L2317M	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2328	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.					cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CCTCCTTGCAAATTTAGGAAA	0.333																																						dbGAP											0													58.0	63.0	61.0					4																	151356833		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.6982T>A	4.37:g.151356833A>T	ENSP00000349629:p.Leu2328Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom	p.L2328M	ENST00000357115.3	37	c.6982	CCDS3773.1	4	.	.	.	.	.	.	.	.	.	.	A	18.69	3.677920	0.68042	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62	5.5	1.77	0.24775	BEACH domain (4);	0.073236	0.53938	D	0.000049	D	0.86410	0.5926	M	0.67953	2.075	0.51012	D	0.999907	D;B;B	0.59357	0.985;0.026;0.399	D;B;P	0.66084	0.941;0.042;0.48	D	0.84447	0.0586	10	0.59425	D	0.04	.	6.3241	0.21234	0.5824:0.0:0.4176:0.0	.	2328;2317;218	P50851;P50851-2;Q68D03	LRBA_HUMAN;.;.	M	2317;2317;2328;2317	ENSP00000446299:L2317M;ENSP00000421552:L2317M;ENSP00000349629:L2328M;ENSP00000422180:L2317M	ENSP00000349629:L2328M	L	-	1	2	LRBA	151576283	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.453000	0.35167	0.872000	0.35775	0.482000	0.46254	TTG	LRBA	-	pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom	ENSG00000198589		0.333	LRBA-002	KNOWN	basic|CCDS	protein_coding	LRBA	HGNC	protein_coding	OTTHUMT00000364939.1	129	0.00	0	A			151356833	151356833	-1	no_errors	ENST00000357115	ensembl	human	known	69_37n	missense	67	30.61	30	SNP	1.000	T
MED15	51586	genome.wustl.edu	37	22	20937198	20937198	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A1AV-01A-21D-A12Q-09	TCGA-AR-A1AV-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	0a0dd89c-5ec8-4015-9616-733e41361a64	77cb1c29-4009-4669-bdb6-3ec5e74b65d1	g.chr22:20937198C>T	ENST00000263205.7	+	11	1550	c.1481C>T	c.(1480-1482)aCg>aTg	p.T494M	MED15_ENST00000406969.1_Missense_Mutation_p.T428M|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000542773.1_Intron|MED15_ENST00000425759.2_Missense_Mutation_p.T343M|MED15_ENST00000541476.1_Missense_Mutation_p.T428M|MED15_ENST00000292733.7_Missense_Mutation_p.T454M|MED15_ENST00000382974.2_Missense_Mutation_p.T383M	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	494	Pro-rich.				gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			AGCCCAGTGACGGCGCGGACC	0.597																																						dbGAP											0													57.0	61.0	60.0					22																	20937198		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.1481C>T	22.37:g.20937198C>T	ENSP00000263205:p.Thr494Met	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Missense_Mutation	SNP	pfam_Mediator_Med15_met	p.T494M	ENST00000263205.7	37	c.1481	CCDS33602.1	22	.	.	.	.	.	.	.	.	.	.	C	15.65	2.896108	0.52121	.	.	ENSG00000099917	ENST00000425759;ENST00000292733;ENST00000263205;ENST00000406969;ENST00000382974;ENST00000541476;ENST00000542312	.	.	.	5.49	5.49	0.81192	Mediator complex, subunit Med15, metazoa (1);	0.310182	0.36303	N	0.002673	T	0.65396	0.2687	L	0.50333	1.59	0.80722	D	1	D;D;D;D;D;D	0.61697	0.99;0.988;0.963;0.986;0.986;0.988	P;P;P;P;P;P	0.55667	0.765;0.781;0.499;0.674;0.674;0.781	T	0.62020	-0.6942	9	0.33141	T	0.24	.	16.8508	0.85993	0.0:1.0:0.0:0.0	.	424;473;110;428;454;494	B4DGD6;Q6PKB8;B3KWF1;G3V1P5;Q96RN5-2;Q96RN5	.;.;.;.;.;MED15_HUMAN	M	343;454;494;428;383;428;424	.	ENSP00000263205:T494M	T	+	2	0	MED15	19267198	1.000000	0.71417	0.963000	0.40424	0.703000	0.40648	5.012000	0.64017	2.574000	0.86865	0.561000	0.74099	ACG	MED15	-	pfam_Mediator_Med15_met	ENSG00000099917		0.597	MED15-004	KNOWN	basic|CCDS	protein_coding	MED15	HGNC	protein_coding	OTTHUMT00000320177.2	97	0.00	0	C	NM_015889		20937198	20937198	+1	no_errors	ENST00000263205	ensembl	human	known	69_37n	missense	39	42.65	29	SNP	0.971	T
MIER1	57708	genome.wustl.edu	37	1	67447566	67447568	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-AR-A1AV-01A-21D-A12Q-09	TCGA-AR-A1AV-10A-01D-A12Q-09	AAG	AAG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	0a0dd89c-5ec8-4015-9616-733e41361a64	77cb1c29-4009-4669-bdb6-3ec5e74b65d1	g.chr1:67447566_67447568delAAG	ENST00000355356.3	+	12	1324_1326	c.1175_1177delAAG	c.(1174-1179)aaagaa>aaa	p.E393del	MIER1_ENST00000355977.6_In_Frame_Del_p.E330del|MIER1_ENST00000371014.1_In_Frame_Del_p.E446del|MIER1_ENST00000401041.1_In_Frame_Del_p.E446del|MIER1_ENST00000371018.3_In_Frame_Del_p.E410del|MIER1_ENST00000401042.3_In_Frame_Del_p.E393del|MIER1_ENST00000357692.2_In_Frame_Del_p.E410del|MIER1_ENST00000371016.1_In_Frame_Del_p.E410del	NM_001077701.2|NM_001077704.2	NP_001071169.1|NP_001071172.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	393					positive regulation of chromatin silencing (GO:0031937)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						CAGTCTGAGAAAGAAGATGGCAC	0.438																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0				CCDS41347.1, CCDS41348.1, CCDS53325.1, CCDS53326.1, CCDS53327.1, CCDS53328.1, CCDS53329.1, CCDS53330.1, CCDS60163.1	1p31.2	2013-07-23	2013-07-23		ENSG00000198160	ENSG00000198160			29657	protein-coding gene	gene with protein product			"""mesoderm induction early response 1 homolog (Xenopus laevis)"""			12242014, 12482978	Standard	NM_020948		Approved	hMI-ER1, MI-ER1, KIAA1610	uc001dde.2	Q8N108	OTTHUMG00000009194	ENST00000355356.3:c.1175_1177delAAG	1.37:g.67447569_67447571delAAG	ENSP00000347514:p.Glu393del	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JFD4|Q08AE0|Q32NC4|Q5T104|Q5TAD1|Q5TAD2|Q5TAD4|Q5TAD5|Q6AHY8|Q86TB4|Q8N156|Q8N161|Q8NC37|Q8NES4|Q8NES5|Q8NES6|Q8WWG2|Q9HCG2	In_Frame_Del	DEL	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.E446in_frame_del	ENST00000355356.3	37	c.1334_1336	CCDS41348.1	1																																																																																			MIER1	-	NULL	ENSG00000198160		0.438	MIER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MIER1	HGNC	protein_coding	OTTHUMT00000025491.2	155	0.00	0	AAG	NM_020948		67447566	67447568	+1	no_errors	ENST00000401041	ensembl	human	known	69_37n	in_frame_del	109	21.01	29	DEL	0.998:0.975:1.000	-
NEMF	9147	genome.wustl.edu	37	14	50298943	50298943	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A1AV-01A-21D-A12Q-09	TCGA-AR-A1AV-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	0a0dd89c-5ec8-4015-9616-733e41361a64	77cb1c29-4009-4669-bdb6-3ec5e74b65d1	g.chr14:50298943G>A	ENST00000298310.5	-	9	1237	c.788C>T	c.(787-789)cCa>cTa	p.P263L	NEMF_ENST00000556925.1_5'UTR|NEMF_ENST00000546046.1_Missense_Mutation_p.P263L|NEMF_ENST00000545773.1_Missense_Mutation_p.P221L			O60524	NEMF_HUMAN	nuclear export mediator factor	263					nuclear export (GO:0051168)	nucleus (GO:0005634)		p.P263Q(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						GTCTTCAACTGGTTTATCTGC	0.308																																						dbGAP											1	Substitution - Missense(1)	kidney(1)											115.0	109.0	111.0					14																	50298943		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF039687	CCDS9694.1	14q21.3	2012-11-19	2011-01-31	2011-01-31	ENSG00000165525	ENSG00000165525			10663	protein-coding gene	gene with protein product		608378	"""serologically defined colon cancer antigen 1"""	SDCCAG1		9610721, 10575219	Standard	XR_429334		Approved	NY-CO-1, FLJ10051	uc001wxc.3	O60524	OTTHUMG00000170857	ENST00000298310.5:c.788C>T	14.37:g.50298943G>A	ENSP00000298310:p.Pro263Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JLQ3|B3KSK1|B4DDL3|B4DHA9|B4E3F3|Q32Q66|Q8WW70|Q9NWG1	Missense_Mutation	SNP	pfam_Fibro-bd_N,pfam_DUF3441,pfam_DUF814,superfamily_FlgN-like_dom	p.P263L	ENST00000298310.5	37	c.788	CCDS9694.1	14	.	.	.	.	.	.	.	.	.	.	G	14.20	2.465793	0.43839	.	.	ENSG00000165525	ENST00000298310;ENST00000545773;ENST00000546046;ENST00000534912;ENST00000555970	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.33	4.34	0.51931	Fibronectin-binding A, N-terminal (1);	0.117723	0.64402	D	0.000020	T	0.43322	0.1242	M	0.62266	1.93	0.80722	D	1	B;B;B;B;B	0.28605	0.015;0.217;0.13;0.13;0.146	B;B;B;B;B	0.31101	0.02;0.098;0.098;0.098;0.124	T	0.42189	-0.9466	10	0.40728	T	0.16	-9.4078	15.8006	0.78450	0.0:0.0:0.8547:0.1452	.	263;34;238;221;263	O60524-3;F5H639;O60524-5;O60524-4;O60524	.;.;.;.;NEMF_HUMAN	L	263;221;263;34;221	ENSP00000298310:P263L;ENSP00000438309:P221L;ENSP00000441016:P263L;ENSP00000452540:P221L	ENSP00000298310:P263L	P	-	2	0	NEMF	49368693	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.038000	0.76537	2.493000	0.84123	0.563000	0.77884	CCA	NEMF	-	pfam_Fibro-bd_N	ENSG00000165525		0.308	NEMF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEMF	HGNC	protein_coding	OTTHUMT00000410798.1	340	0.00	0	G	NM_004713		50298943	50298943	-1	no_errors	ENST00000298310	ensembl	human	known	69_37n	missense	222	27.69	85	SNP	0.997	A
NUTF2	10204	genome.wustl.edu	37	16	67902441	67902441	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A1AV-01A-21D-A12Q-09	TCGA-AR-A1AV-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	0a0dd89c-5ec8-4015-9616-733e41361a64	77cb1c29-4009-4669-bdb6-3ec5e74b65d1	g.chr16:67902441C>T	ENST00000219169.4	+	4	492	c.209C>T	c.(208-210)gCg>gTg	p.A70V	NUTF2_ENST00000568396.2_Missense_Mutation_p.A70V|NUTF2_ENST00000569436.2_Missense_Mutation_p.A70V	NM_005796.1	NP_005787.1	P61970	NTF2_HUMAN	nuclear transport factor 2	70	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				protein export from nucleus (GO:0006611)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear pore (GO:0005643)	transporter activity (GO:0005215)			kidney(1)|lung(2)|upper_aerodigestive_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00443)|Epithelial(162;0.0199)|all cancers(182;0.129)		AGCATCACCGCGCAGGACCAT	0.572																																						dbGAP											0													200.0	198.0	199.0					16																	67902441		2198	4300	6498	-	-	-	SO:0001583	missense	0			U43939	CCDS10848.1	16q22.1	2008-02-05			ENSG00000102898	ENSG00000102898			13722	protein-coding gene	gene with protein product		605813				7744965, 3380696	Standard	NM_005796		Approved	NTF2, PP15	uc002eup.3	P61970	OTTHUMG00000137540	ENST00000219169.4:c.209C>T	16.37:g.67902441C>T	ENSP00000219169:p.Ala70Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R4G7|P13662|Q6IB67	Missense_Mutation	SNP	pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk	p.A70V	ENST00000219169.4	37	c.209	CCDS10848.1	16	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001963	0.54254	.	.	ENSG00000102898	ENST00000219169	.	.	.	5.85	5.85	0.93711	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.106582	0.64402	D	0.000006	T	0.45975	0.1369	L	0.35542	1.07	0.50171	D	0.999859	P	0.37141	0.584	B	0.25506	0.061	T	0.41893	-0.9483	9	0.35671	T	0.21	-6.4958	19.7585	0.96304	0.0:1.0:0.0:0.0	.	70	P61970	NTF2_HUMAN	V	70	.	ENSP00000219169:A70V	A	+	2	0	NUTF2	66459942	1.000000	0.71417	0.986000	0.45419	0.826000	0.46750	4.625000	0.61262	2.773000	0.95371	0.655000	0.94253	GCG	NUTF2	-	pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk	ENSG00000102898		0.572	NUTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUTF2	HGNC	protein_coding	OTTHUMT00000268871.1	159	0.00	0	C			67902441	67902441	+1	no_errors	ENST00000219169	ensembl	human	known	69_37n	missense	105	45.88	89	SNP	1.000	T
OR6C76	390326	genome.wustl.edu	37	12	55820958	55820959	+	Frame_Shift_Ins	INS	-	-	A	rs77587450|rs397719965|rs57387180		TCGA-AR-A1AV-01A-21D-A12Q-09	TCGA-AR-A1AV-10A-01D-A12Q-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	0a0dd89c-5ec8-4015-9616-733e41361a64	77cb1c29-4009-4669-bdb6-3ec5e74b65d1	g.chr12:55820958_55820959insA	ENST00000328314.3	+	1	921_922	c.921_922insA	c.(922-924)aaafs	p.K308fs		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	308						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H307Q(1)		NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AGATTTCCCACAAAAAAAAAAA	0.337																																						dbGAP											1	Substitution - Missense(1)	NS(1)																																								-	-	-	SO:0001589	frameshift_variant	0				CCDS31823.1	12q13.2	2013-09-23			ENSG00000185821	ENSG00000185821		"""GPCR / Class A : Olfactory receptors"""	31305	protein-coding gene	gene with protein product							Standard	NM_001005183		Approved		uc010spm.2	A6NM76	OTTHUMG00000169956	ENST00000328314.3:c.933dupA	12.37:g.55820969_55820969dupA	ENSP00000328402:p.Lys308fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.K311fs	ENST00000328314.3	37	c.921_922	CCDS31823.1	12																																																																																			OR6C76	-	NULL	ENSG00000185821		0.337	OR6C76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C76	HGNC	protein_coding	OTTHUMT00000406675.1	19	0.00	0	-	NM_001005183		55820958	55820959	+1	no_errors	ENST00000328314	ensembl	human	known	69_37n	frame_shift_ins	22	15.38	4	INS	0.003:0.016	A
PARD3	56288	genome.wustl.edu	37	10	34620159	34620159	+	Missense_Mutation	SNP	G	G	A	rs566752362		TCGA-AR-A1AV-01A-21D-A12Q-09	TCGA-AR-A1AV-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	0a0dd89c-5ec8-4015-9616-733e41361a64	77cb1c29-4009-4669-bdb6-3ec5e74b65d1	g.chr10:34620159G>A	ENST00000374789.3	-	19	3053	c.2728C>T	c.(2728-2730)Cgt>Tgt	p.R910C	PARD3_ENST00000466092.1_5'UTR|PARD3_ENST00000374773.1_Missense_Mutation_p.R877C|PARD3_ENST00000374788.3_Missense_Mutation_p.R907C|PARD3_ENST00000340077.5_Missense_Mutation_p.R907C|PARD3_ENST00000544292.1_Missense_Mutation_p.R623C|PARD3_ENST00000350537.4_Missense_Mutation_p.R864C|PARD3_ENST00000374794.3_Missense_Mutation_p.R835C|PARD3_ENST00000374790.3_Missense_Mutation_p.R850C|PARD3_ENST00000545260.1_Missense_Mutation_p.R820C|PARD3_ENST00000545693.1_Missense_Mutation_p.R894C|PARD3_ENST00000346874.4_Missense_Mutation_p.R910C|PARD3_ENST00000374776.1_Missense_Mutation_p.R864C	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	910	Interacts with PRKCI and PRKCZ. {ECO:0000250}.				apical constriction (GO:0003383)|asymmetric cell division (GO:0008356)|axonogenesis (GO:0007409)|cell cycle (GO:0007049)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|centrosome localization (GO:0051642)|establishment of epithelial cell polarity (GO:0090162)|establishment or maintenance of cell polarity (GO:0007163)|microtubule cytoskeleton organization (GO:0000226)|myelination in peripheral nervous system (GO:0022011)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein targeting to membrane (GO:0006612)|regulation of actin filament-based process (GO:0032970)|regulation of cellular localization (GO:0060341)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing, spreading of cells (GO:0044319)	apical part of cell (GO:0045177)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|internode region of axon (GO:0033269)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|tight junction (GO:0005923)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.R910C(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GGCCGTGGACGATGGAAAGGA	0.517													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14480	0.0		0.0	False		,,,				2504	0.0					dbGAP											1	Substitution - Missense(1)	large_intestine(1)											115.0	101.0	106.0					10																	34620159		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF252293	CCDS7178.1, CCDS53509.1, CCDS53510.1, CCDS53511.1, CCDS53512.1, CCDS53513.1, CCDS53514.1, CCDS53515.1, CCDS53516.1	10p11.22	2014-06-13	2013-08-28		ENSG00000148498	ENSG00000148498			16051	protein-coding gene	gene with protein product	"""atypical PKC isotype-specific interacting protein"", ""par-3 family cell polarity regulator alpha"", ""protein phosphatase 1, regulatory subunit 118"""	606745	"""par-3 (partitioning defective 3, C.elegans) homolog"", ""par-3 partitioning defective 3 homolog (C. elegans)"""			10934474	Standard	NM_001184790		Approved	PAR3, PARD3A, Bazooka, Baz, ASIP, PPP1R118	uc010qej.2	Q8TEW0	OTTHUMG00000017948	ENST00000374789.3:c.2728C>T	10.37:g.34620159G>A	ENSP00000363921:p.Arg910Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	F5H5T0|Q5T2U1|Q5VUA2|Q5VUA3|Q5VWV0|Q5VWV1|Q5VWV3|Q5VWV4|Q5VWV5|Q6IQ47|Q8TCZ9|Q8TEW1|Q8TEW2|Q8TEW3|Q96K28|Q96RM6|Q96RM7|Q9BY57|Q9BY58|Q9HC48|Q9NWL4|Q9NYE6	Missense_Mutation	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R910C	ENST00000374789.3	37	c.2728	CCDS7178.1	10	.	.	.	.	.	.	.	.	.	.	G	26.6	4.756512	0.89843	.	.	ENSG00000148498	ENST00000545693;ENST00000545260;ENST00000374789;ENST00000374788;ENST00000346874;ENST00000374794;ENST00000350537;ENST00000374790;ENST00000374776;ENST00000340077;ENST00000374773;ENST00000544292	T;T;T;T;T;T;T;T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36;1.36	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.65544	0.2701	M	0.80422	2.495	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;0.998;0.999;0.999;0.999;1.0;0.999;0.995;0.991;0.998;0.999;1.0;0.998;1.0;1.0	T	0.68465	-0.5401	10	0.87932	D	0	.	19.8904	0.96928	0.0:0.0:1.0:0.0	.	835;820;864;864;894;910;907;910;850;894;877;907;864;876;623	Q8TEW0-5;Q8TEW0-3;Q8TEW0-7;Q8TEW0-6;F5H5T0;Q8TEW0-4;Q8TEW0-2;Q8TEW0;Q5VWV2;Q6IQ47;Q5VWU8;Q8TEW0-8;Q8TEW0-9;Q8TEW0-10;F5GZI3	.;.;.;.;.;.;.;PARD3_HUMAN;.;.;.;.;.;.;.	C	894;820;910;907;910;835;864;850;864;907;877;623	ENSP00000443147:R894C;ENSP00000440857:R820C;ENSP00000363921:R910C;ENSP00000363920:R907C;ENSP00000340591:R910C;ENSP00000363926:R835C;ENSP00000311986:R864C;ENSP00000363922:R850C;ENSP00000363908:R864C;ENSP00000341844:R907C;ENSP00000363905:R877C;ENSP00000444429:R623C	ENSP00000341844:R907C	R	-	1	0	PARD3	34660165	1.000000	0.71417	0.987000	0.45799	0.979000	0.70002	3.633000	0.54295	2.697000	0.92050	0.650000	0.86243	CGT	PARD3	-	NULL	ENSG00000148498		0.517	PARD3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARD3	HGNC	protein_coding	OTTHUMT00000047527.1	189	0.00	0	G	NM_019619		34620159	34620159	-1	no_errors	ENST00000374789	ensembl	human	known	69_37n	missense	135	21.39	37	SNP	1.000	A
PDGFRA	5156	genome.wustl.edu	37	4	55152033	55152033	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A1AV-01A-21D-A12Q-09	TCGA-AR-A1AV-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	0a0dd89c-5ec8-4015-9616-733e41361a64	77cb1c29-4009-4669-bdb6-3ec5e74b65d1	g.chr4:55152033G>A	ENST00000257290.5	+	18	2796	c.2465G>A	c.(2464-2466)cGc>cAc	p.R822H	FIP1L1_ENST00000507166.1_Missense_Mutation_p.R582H	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	822	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	CTGGCTGCTCGCAACGTCCTC	0.493			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	dbGAP		Dom	yes		4	4q11-q13	5156	"""platelet-derived growth factor, alpha-receptor"""		"""L, M, O"""	0													177.0	160.0	166.0					4																	55152033		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.2465G>A	4.37:g.55152033G>A	ENSP00000257290:p.Arg822His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR_rcpt_N	p.R822H	ENST00000257290.5	37	c.2465	CCDS3495.1	4	.	.	.	.	.	.	.	.	.	.	G	36	5.696102	0.96802	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	D;D	0.87729	-2.29;-2.29	6.17	6.17	0.99709	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.32386	U	0.006179	D	0.94056	0.8095	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.93556	0.6891	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	822	P16234	PGFRA_HUMAN	H	582;822	ENSP00000423325:R582H;ENSP00000257290:R822H	ENSP00000423325:R582H	R	+	2	0	FIP1L1;PDGFRA	54846790	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	9.813000	0.99286	2.941000	0.99782	0.655000	0.94253	CGC	PDGFRA	-	pirsf_Tyr_kinase_CSF1/PDGF_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	ENSG00000134853		0.493	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDGFRA	HGNC	protein_coding	OTTHUMT00000250598.2	159	0.00	0	G	NM_006206		55152033	55152033	+1	no_errors	ENST00000257290	ensembl	human	known	69_37n	missense	90	31.30	41	SNP	1.000	A
PDZRN3	23024	genome.wustl.edu	37	3	73432563	73432563	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A1AV-01A-21D-A12Q-09	TCGA-AR-A1AV-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	0a0dd89c-5ec8-4015-9616-733e41361a64	77cb1c29-4009-4669-bdb6-3ec5e74b65d1	g.chr3:73432563C>T	ENST00000263666.4	-	10	3268	c.3154G>A	c.(3154-3156)Gac>Aac	p.D1052N	PDZRN3_ENST00000535920.1_Missense_Mutation_p.D774N|PDZRN3_ENST00000466780.1_Missense_Mutation_p.D709N|PDZRN3_ENST00000479530.1_Missense_Mutation_p.D769N|PDZRN3_ENST00000462146.2_Missense_Mutation_p.D709N|PDZRN3_ENST00000466348.1_5'Flank	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	1052					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CTAGTGCCGTCCGGGGATTTT	0.418																																						dbGAP											0													178.0	193.0	188.0					3																	73432563		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.3154G>A	3.37:g.73432563C>T	ENSP00000263666:p.Asp1052Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF	p.D1052N	ENST00000263666.4	37	c.3154	CCDS33789.1	3	.	.	.	.	.	.	.	.	.	.	C	15.61	2.883932	0.51908	.	.	ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530	T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.94	5.66	5.66	0.87406	.	0.099206	0.64402	D	0.000003	D	0.85106	0.5621	M	0.66939	2.045	0.80722	D	1	P;D;D;D	0.71674	0.915;0.989;0.998;0.962	P;P;D;P	0.66602	0.828;0.798;0.945;0.706	D	0.86045	0.1522	10	0.87932	D	0	.	19.3333	0.94303	0.0:1.0:0.0:0.0	.	774;769;769;1052	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7	.;.;.;PZRN3_HUMAN	N	1052;774;709;709;769	ENSP00000263666:D1052N;ENSP00000442026:D774N;ENSP00000418168:D709N;ENSP00000418484:D709N;ENSP00000418624:D769N	ENSP00000263666:D1052N	D	-	1	0	PDZRN3	73515253	1.000000	0.71417	0.734000	0.30879	0.007000	0.05969	7.591000	0.82666	2.659000	0.90383	0.655000	0.94253	GAC	PDZRN3	-	NULL	ENSG00000121440		0.418	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZRN3	HGNC	protein_coding	OTTHUMT00000352460.1	284	0.00	0	C	XM_041363		73432563	73432563	-1	no_errors	ENST00000263666	ensembl	human	known	69_37n	missense	108	49.77	107	SNP	0.999	T
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-AR-A1AV-01A-21D-A12Q-09	TCGA-AR-A1AV-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	0a0dd89c-5ec8-4015-9616-733e41361a64	77cb1c29-4009-4669-bdb6-3ec5e74b65d1	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	Somatic		WXS	Illumina GAIIx	Phase_IV	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	200	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	33	81.77	148	SNP	1.000	G
PRKG2	5593	genome.wustl.edu	37	4	82125820	82125820	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AR-A1AV-01A-21D-A12Q-09	TCGA-AR-A1AV-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	0a0dd89c-5ec8-4015-9616-733e41361a64	77cb1c29-4009-4669-bdb6-3ec5e74b65d1	g.chr4:82125820C>A	ENST00000395578.1	-	2	498	c.382G>T	c.(382-384)Gag>Tag	p.E128*	PRKG2_ENST00000418486.2_Nonsense_Mutation_p.E128*|PRKG2_ENST00000264399.1_Nonsense_Mutation_p.E128*			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	128					blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						GTTGTTGGCTCAGCAGACACG	0.512																																						dbGAP											0													167.0	191.0	183.0					4																	82125820		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.382G>T	4.37:g.82125820C>A	ENSP00000378945:p.Glu128*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DMX3|E7EPE6|O00125|O60916	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_cat_dom,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin	p.E128*	ENST00000395578.1	37	c.382	CCDS3589.1	4	.	.	.	.	.	.	.	.	.	.	C	40	7.976014	0.98591	.	.	ENSG00000138669	ENST00000395578;ENST00000264399;ENST00000418486	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-26.8031	18.9672	0.92701	0.0:1.0:0.0:0.0	.	.	.	.	X	128	.	ENSP00000264399:E128X	E	-	1	0	PRKG2	82344844	1.000000	0.71417	0.980000	0.43619	0.997000	0.91878	4.800000	0.62524	2.803000	0.96430	0.585000	0.79938	GAG	PRKG2	-	pirsf_cGMP-dependent_protein_kinase	ENSG00000138669		0.512	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKG2	HGNC	protein_coding	OTTHUMT00000252639.1	57	0.00	0	C	NM_006259		82125820	82125820	-1	no_errors	ENST00000264399	ensembl	human	known	69_37n	nonsense	69	16.87	14	SNP	1.000	A
RBMS3	27303	genome.wustl.edu	37	3	29781333	29781333	+	Silent	SNP	C	C	T	rs566851242		TCGA-AR-A1AV-01A-21D-A12Q-09	TCGA-AR-A1AV-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	0a0dd89c-5ec8-4015-9616-733e41361a64	77cb1c29-4009-4669-bdb6-3ec5e74b65d1	g.chr3:29781333C>T	ENST00000383767.2	+	5	858	c.522C>T	c.(520-522)gaC>gaT	p.D174D	RBMS3_ENST00000452462.1_Silent_p.D174D|RBMS3_ENST00000396583.3_Silent_p.D174D|RBMS3_ENST00000445033.1_Silent_p.D174D|RBMS3_ENST00000383766.2_Silent_p.D173D|RBMS3_ENST00000273139.9_Silent_p.D174D|RBMS3_ENST00000456853.1_Silent_p.D174D|RBMS3_ENST00000434693.2_Silent_p.D173D			Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	174	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				TACTAAGAGACGCTAATGGAG	0.388													C|||	1	0.000199681	0.0	0.0	5008	,	,		16705	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													131.0	129.0	130.0					3																	29781333		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF023259	CCDS33724.1, CCDS33725.1, CCDS33726.1, CCDS54557.1, CCDS54558.1	3p24-p23	2013-02-12	2010-04-20		ENSG00000144642	ENSG00000144642		"""RNA binding motif (RRM) containing"""	13427	protein-coding gene	gene with protein product	"""RNA-binding protein"""	605786	"""RNA binding motif, single stranded interacting protein"""			10675610	Standard	NM_001003793		Approved		uc003cel.3	Q6XE24	OTTHUMG00000155699	ENST00000383767.2:c.522C>T	3.37:g.29781333C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9S4|B7ZL17|G5E9J9|O75876|Q17RI0|Q6XE23	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,prints_Hud_Sxl_RNA,pfscan_RRM_dom	p.D174	ENST00000383767.2	37	c.522	CCDS33724.1	3																																																																																			RBMS3	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000144642		0.388	RBMS3-001	KNOWN	basic|CCDS	protein_coding	RBMS3	HGNC	protein_coding	OTTHUMT00000341306.1	359	0.00	0	C	NM_001003792		29781333	29781333	+1	no_errors	ENST00000383767	ensembl	human	known	69_37n	silent	135	50.91	140	SNP	0.976	T
SEPT4	5414	genome.wustl.edu	37	17	56603076	56603076	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A1AV-01A-21D-A12Q-09	TCGA-AR-A1AV-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	0a0dd89c-5ec8-4015-9616-733e41361a64	77cb1c29-4009-4669-bdb6-3ec5e74b65d1	g.chr17:56603076C>T	ENST00000317268.3	-	4	694	c.518G>A	c.(517-519)cGg>cAg	p.R173Q	SEPT4_ENST00000317256.6_Missense_Mutation_p.R154Q|SEPT4_ENST00000412945.3_Missense_Mutation_p.R165Q|SEPT4_ENST00000457347.2_Missense_Mutation_p.R188Q|SEPT4_ENST00000579371.1_Missense_Mutation_p.R74Q|SEPT4_ENST00000580844.1_Missense_Mutation_p.R74Q|RP11-112H10.4_ENST00000580769.1_RNA|SEPT4_ENST00000393086.1_Missense_Mutation_p.R154Q|SEPT4_ENST00000580809.1_Missense_Mutation_p.R55Q|SEPT4_ENST00000583114.1_Missense_Mutation_p.R26Q|SEPT4_ENST00000426861.1_Missense_Mutation_p.R154Q|RP11-112H10.4_ENST00000578022.1_RNA|SEPT4_ENST00000580791.1_5'Flank|RP11-112H10.4_ENST00000580589.1_RNA	NM_004574.3	NP_004565.1	O43236	SEPT4_HUMAN	septin 4	173	Septin-type G.				apoptotic process (GO:0006915)|brain development (GO:0007420)|cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of protein ubiquitination (GO:0031398)|regulation of apoptotic process (GO:0042981)|sperm capacitation (GO:0048240)|sperm mitochondrion organization (GO:0030382)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm annulus (GO:0097227)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)	p.R173Q(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AAGAAGTTTCCGGTCCCGGTA	0.527																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											110.0	96.0	100.0					17																	56603076		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF073312	CCDS11609.1, CCDS11610.1, CCDS45743.1, CCDS56041.1, CCDS58581.1, CCDS58582.1	17q22	2013-01-21	2005-01-11	2005-01-12	ENSG00000108387	ENSG00000108387		"""Septins"""	9165	protein-coding gene	gene with protein product	"""bradeoin"", ""septin-M"""	603696	"""peanut-like 2 (Drosophila)"""	PNUTL2		9889007	Standard	NM_001198713		Approved	H5, CE5B3, hucep-7, ARTS, hCDCREL-2, MART	uc002iwm.2	O43236		ENST00000317268.3:c.518G>A	17.37:g.56603076C>T	ENSP00000321674:p.Arg173Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RD42|B3KSX9|B4DXC6|B4DXV5|Q6IAP3|Q9H315|Q9UM58	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd	p.R188Q	ENST00000317268.3	37	c.563	CCDS11610.1	17	.	.	.	.	.	.	.	.	.	.	C	15.91	2.972483	0.53614	.	.	ENSG00000108387	ENST00000412945;ENST00000457347;ENST00000317256;ENST00000317268;ENST00000393086;ENST00000426861	T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7	4.94	4.94	0.65067	.	0.058893	0.64402	D	0.000003	T	0.60830	0.2299	L	0.39147	1.195	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.99;0.994;1.0;0.998;1.0	D;D;P;P;D;D;D	0.91635	0.999;0.993;0.838;0.886;0.999;0.965;0.999	T	0.62950	-0.6745	10	0.87932	D	0	.	16.0453	0.80717	0.0:1.0:0.0:0.0	.	165;188;26;154;154;26;173	O43236-3;O43236-4;B3KR63;O43236-6;O43236-2;O43236-5;O43236	.;.;.;.;.;.;SEPT4_HUMAN	Q	165;187;154;173;154;154	ENSP00000414779:R165Q;ENSP00000321071:R154Q;ENSP00000321674:R173Q;ENSP00000376801:R154Q;ENSP00000402348:R154Q	ENSP00000321071:R154Q	R	-	2	0	SEPT4	53958075	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.933000	0.70130	2.726000	0.93360	0.655000	0.94253	CGG	SEPT4	-	pfam_Cell_div_GTP-bd	ENSG00000108387		0.527	SEPT4-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEPT4	HGNC	protein_coding	OTTHUMT00000445420.1	251	0.00	0	C	NM_080417		56603076	56603076	-1	no_errors	ENST00000457347	ensembl	human	known	69_37n	missense	279	21.13	75	SNP	1.000	T
SETD5	55209	genome.wustl.edu	37	3	9490166	9490166	+	Missense_Mutation	SNP	C	C	A			TCGA-AR-A1AV-01A-21D-A12Q-09	TCGA-AR-A1AV-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	0a0dd89c-5ec8-4015-9616-733e41361a64	77cb1c29-4009-4669-bdb6-3ec5e74b65d1	g.chr3:9490166C>A	ENST00000406341.1	+	15	2388	c.2198C>A	c.(2197-2199)gCa>gAa	p.A733E	SETD5_ENST00000407969.1_Missense_Mutation_p.A752E|SETD5_ENST00000488236.1_3'UTR|SETD5_ENST00000302463.6_Missense_Mutation_p.A635E|SETD5_ENST00000402198.1_Missense_Mutation_p.A733E|SETD5_ENST00000402466.1_Missense_Mutation_p.A635E			Q9C0A6	SETD5_HUMAN	SET domain containing 5	733										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		ACTGTACTGGCAACGACCCTA	0.463																																						dbGAP											0													145.0	140.0	142.0					3																	9490166		1966	4164	6130	-	-	-	SO:0001583	missense	0			BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.2198C>A	3.37:g.9490166C>A	ENSP00000383939:p.Ala733Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	p.A733E	ENST00000406341.1	37	c.2198	CCDS46741.1	3	.	.	.	.	.	.	.	.	.	.	C	25.4	4.635446	0.87760	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000302463	D;D;D;D;D	0.96265	-3.62;-3.96;-3.62;-3.59;-3.96	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.97990	0.9338	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.997;0.996;0.996	D	0.98519	1.0622	10	0.87932	D	0	-13.9943	19.976	0.97309	0.0:1.0:0.0:0.0	.	402;635;733;752	B3KXG4;Q9C0A6-3;Q9C0A6;E7EWN3	.;.;SETD5_HUMAN;.	E	733;635;733;752;635	ENSP00000385852:A733E;ENSP00000384429:A635E;ENSP00000383939:A733E;ENSP00000384114:A752E;ENSP00000302028:A635E	ENSP00000302028:A635E	A	+	2	0	SETD5	9465166	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	7.487000	0.81328	2.713000	0.92767	0.655000	0.94253	GCA	SETD5	-	NULL	ENSG00000168137		0.463	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	SETD5	HGNC	protein_coding	OTTHUMT00000318425.1	200	0.00	0	C	XM_371614		9490166	9490166	+1	no_errors	ENST00000402198	ensembl	human	known	69_37n	missense	176	16.19	34	SNP	1.000	A
SIRPG	55423	genome.wustl.edu	37	20	1616960	1616960	+	Missense_Mutation	SNP	G	G	A	rs534699318	byFrequency	TCGA-AR-A1AV-01A-21D-A12Q-09	TCGA-AR-A1AV-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	0a0dd89c-5ec8-4015-9616-733e41361a64	77cb1c29-4009-4669-bdb6-3ec5e74b65d1	g.chr20:1616960G>A	ENST00000303415.3	-	3	686	c.622C>T	c.(622-624)Cgc>Tgc	p.R208C	SIRPG_ENST00000344103.4_Intron|SIRPG_ENST00000216927.4_Missense_Mutation_p.R208C|RP11-77C3.3_ENST00000456177.1_RNA|RP11-77C3.3_ENST00000437384.1_RNA|SIRPG_ENST00000381580.1_Missense_Mutation_p.R175C|SIRPG_ENST00000381583.2_Missense_Mutation_p.R208C	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	208	Ig-like C1-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						GCTGTGCTGCGGATGCTGTAG	0.587													g|||	2	0.000399361	0.0	0.0	5008	,	,		20136	0.0		0.0	False		,,,				2504	0.002					dbGAP											0													159.0	140.0	147.0					20																	1616960		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB042624	CCDS13020.2, CCDS13021.2, CCDS33434.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000089012	ENSG00000089012		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15757	protein-coding gene	gene with protein product		605466	"""signal-regulatory protein beta 2"""	SIRPB2		11185750, 16339511	Standard	XM_005260749		Approved	bA77C3.1, SIRP-B2, SIRPgamma, CD172g	uc002wfm.1	Q9P1W8	OTTHUMG00000031680	ENST00000303415.3:c.622C>T	20.37:g.1616960G>A	ENSP00000305529:p.Arg208Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like	p.R208C	ENST00000303415.3	37	c.622	CCDS13020.2	20	.	.	.	.	.	.	.	.	.	.	.	14.48	2.546620	0.45383	.	.	ENSG00000089012	ENST00000381580;ENST00000303415;ENST00000381583;ENST00000216927	T;T;T;T	0.02974	4.09;4.09;4.09;4.09	1.95	-0.94	0.10405	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.857947	0.10232	N	0.699555	T	0.05823	0.0152	L	0.52011	1.625	0.30119	N	0.805824	D;D	0.57899	0.973;0.981	P;P	0.56788	0.781;0.806	T	0.33240	-0.9876	10	0.87932	D	0	.	1.6018	0.02675	0.4965:0.0:0.2075:0.296	.	208;208	Q9P1W8-4;Q9P1W8	.;SIRPG_HUMAN	C	175;208;208;208	ENSP00000370992:R175C;ENSP00000305529:R208C;ENSP00000370995:R208C;ENSP00000216927:R208C	ENSP00000216927:R208C	R	-	1	0	SIRPG	1564960	0.962000	0.33011	0.170000	0.22879	0.148000	0.21650	0.695000	0.25527	-0.445000	0.07159	0.195000	0.17529	CGC	SIRPG	-	pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like	ENSG00000089012		0.587	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRPG	HGNC	protein_coding	OTTHUMT00000077566.2	385	0.00	0	G	NM_018556		1616960	1616960	-1	no_errors	ENST00000303415	ensembl	human	known	69_37n	missense	316	22.49	92	SNP	0.878	A
SLC2A3	6515	genome.wustl.edu	37	12	8083112	8083112	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A1AV-01A-21D-A12Q-09	TCGA-AR-A1AV-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	0a0dd89c-5ec8-4015-9616-733e41361a64	77cb1c29-4009-4669-bdb6-3ec5e74b65d1	g.chr12:8083112G>C	ENST00000075120.7	-	5	877	c.637C>G	c.(637-639)Ctc>Gtc	p.L213V		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	213					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		CTGTTAATGAGCAAAAATCTG	0.428																																					Colon(96;424 1461 14416 20933 23688)	dbGAP											0													149.0	137.0	141.0					12																	8083112		2203	4300	6503	-	-	-	SO:0001583	missense	0			M20681	CCDS8586.1	12p13.3	2013-05-22			ENSG00000059804	ENSG00000059804		"""Solute carriers"""	11007	protein-coding gene	gene with protein product		138170		GLUT3			Standard	NM_006931		Approved		uc001qtr.3	P11169	OTTHUMG00000133685	ENST00000075120.7:c.637C>G	12.37:g.8083112G>C	ENSP00000075120:p.Leu213Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R606|D3DUU6|Q6I9U2|Q9UG15	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,prints_Glc_transpt_3,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt	p.L213V	ENST00000075120.7	37	c.637	CCDS8586.1	12	.	.	.	.	.	.	.	.	.	.	G	23.4	4.410995	0.83340	.	.	ENSG00000059804	ENST00000075120;ENST00000540978	T	0.70869	-0.52	4.44	4.44	0.53790	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.84220	0.5424	M	0.85710	2.77	0.53688	D	0.999971	D;D	0.57257	0.974;0.979	P;D	0.66084	0.903;0.941	D	0.86942	0.2080	10	0.72032	D	0.01	.	14.942	0.71000	0.0:0.0:1.0:0.0	.	139;213	F5H2H8;P11169	.;GTR3_HUMAN	V	213;139	ENSP00000075120:L213V	ENSP00000075120:L213V	L	-	1	0	SLC2A3	7974379	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.702000	0.47102	2.451000	0.82905	0.561000	0.74099	CTC	SLC2A3	-	pfam_Sub_transporter,pfam_MFS,pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt	ENSG00000059804		0.428	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A3	HGNC	protein_coding	OTTHUMT00000257914.1	361	0.00	0	G	NM_006931		8083112	8083112	-1	no_errors	ENST00000075120	ensembl	human	known	69_37n	missense	224	24.58	73	SNP	1.000	C
TAF4B	6875	genome.wustl.edu	37	18	23915146	23915146	+	Missense_Mutation	SNP	C	C	G			TCGA-AR-A1AV-01A-21D-A12Q-09	TCGA-AR-A1AV-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	0a0dd89c-5ec8-4015-9616-733e41361a64	77cb1c29-4009-4669-bdb6-3ec5e74b65d1	g.chr18:23915146C>G	ENST00000269142.5	+	13	3265	c.2267C>G	c.(2266-2268)tCt>tGt	p.S756C	TAF4B_ENST00000578121.1_Missense_Mutation_p.S761C	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	756					gene expression (GO:0010467)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|NF-kappaB binding (GO:0051059)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			TAGAGTCGTTCTAATAAAGAA	0.338																																						dbGAP											0													83.0	78.0	79.0					18																	23915146		1823	4082	5905	-	-	-	SO:0001583	missense	0			Y09321	CCDS42421.1	18q11.1	2008-08-01	2002-08-29	2001-12-07		ENSG00000141384			11538	protein-coding gene	gene with protein product	"""TATA box binding protein (TBP)-associated factor 4B"""	601689	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD"""	TAF2C2		8858156, 10849440	Standard	XM_005258339		Approved	TAFII105	uc002kvu.4	Q92750		ENST00000269142.5:c.2267C>G	18.37:g.23915146C>G	ENSP00000269142:p.Ser756Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q29YA4|Q29YA5	Missense_Mutation	SNP	pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1	p.S756C	ENST00000269142.5	37	c.2267	CCDS42421.1	18	.	.	.	.	.	.	.	.	.	.	C	1.097	-0.662173	0.03454	.	.	ENSG00000141384	ENST00000418698;ENST00000269142	T	0.33438	1.41	5.4	3.62	0.41486	Transcription initiation factor TFIID component TAF4 (1);	0.058979	0.64402	D	0.000001	T	0.56761	0.2007	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77004	0.989;0.964	T	0.60388	-0.7273	10	0.66056	D	0.02	-8.6554	11.1246	0.48310	0.0:0.8019:0.1287:0.0694	.	756;761	Q92750;A4PBF7	TAF4B_HUMAN;.	C	759;756	ENSP00000269142:S756C	ENSP00000269142:S756C	S	+	2	0	TAF4B	22169144	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	4.930000	0.63462	0.655000	0.30866	-1.129000	0.01985	TCT	TAF4B	-	pfam_TAF4	ENSG00000141384		0.338	TAF4B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAF4B	HGNC	protein_coding	OTTHUMT00000446260.3	360	0.00	0	C	NM_005640		23915146	23915146	+1	no_errors	ENST00000269142	ensembl	human	known	69_37n	missense	128	36.45	74	SNP	1.000	G
TRDN	10345	genome.wustl.edu	37	6	123576256	123576256	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A1AV-01A-21D-A12Q-09	TCGA-AR-A1AV-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	0a0dd89c-5ec8-4015-9616-733e41361a64	77cb1c29-4009-4669-bdb6-3ec5e74b65d1	g.chr6:123576256C>T	ENST00000398178.3	-	37	1942	c.1921G>A	c.(1921-1923)Gaa>Aaa	p.E641K	TRDN_ENST00000334268.4_Missense_Mutation_p.E641K	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin	641					cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		TGAAGACTTTCTTTTCTTGTT	0.244																																						dbGAP											0													52.0	44.0	47.0					6																	123576256		1500	3380	4880	-	-	-	SO:0001583	missense	0			U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.1921G>A	6.37:g.123576256C>T	ENSP00000381240:p.Glu641Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A5D6W5|F5H2W7|Q6NSB8	Missense_Mutation	SNP	pfam_Asp-B-hydro/Triadin_dom	p.E641K	ENST00000398178.3	37	c.1921	CCDS55053.1	6	.	.	.	.	.	.	.	.	.	.	C	7.688	0.690464	0.15039	.	.	ENSG00000186439	ENST00000398178;ENST00000398161;ENST00000334268	T;T	0.18657	2.21;2.2	4.37	3.48	0.39840	.	0.626943	0.13258	N	0.401538	T	0.05364	0.0142	L	0.27053	0.805	0.34204	D	0.673498	P	0.45044	0.849	B	0.40165	0.321	T	0.25745	-1.0123	10	0.14252	T	0.57	-7.4448	9.7183	0.40286	0.2068:0.7932:0.0:0.0	.	641	Q13061	TRDN_HUMAN	K	641;643;641	ENSP00000381240:E641K;ENSP00000333984:E641K	ENSP00000333984:E641K	E	-	1	0	TRDN	123617955	1.000000	0.71417	0.136000	0.22124	0.014000	0.08584	2.049000	0.41288	1.149000	0.42402	-0.182000	0.12963	GAA	TRDN	-	NULL	ENSG00000186439		0.244	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRDN	HGNC	protein_coding		438	0.00	0	C			123576256	123576256	-1	no_errors	ENST00000398178	ensembl	human	known	69_37n	missense	198	39.08	127	SNP	0.569	T
TULP4	56995	genome.wustl.edu	37	6	158834165	158834165	+	Silent	SNP	C	C	T			TCGA-AR-A1AV-01A-21D-A12Q-09	TCGA-AR-A1AV-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	0a0dd89c-5ec8-4015-9616-733e41361a64	77cb1c29-4009-4669-bdb6-3ec5e74b65d1	g.chr6:158834165C>T	ENST00000367097.3	+	2	1678	c.321C>T	c.(319-321)ttC>ttT	p.F107F	TULP4_ENST00000367094.2_Silent_p.F107F	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	107					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GAGGCATATTCGTGTGGATTC	0.597																																						dbGAP											0													150.0	125.0	134.0					6																	158834165		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.321C>T	6.37:g.158834165C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Silent	SNP	pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F107	ENST00000367097.3	37	c.321	CCDS34561.1	6																																																																																			TULP4	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000130338		0.597	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TULP4	HGNC	protein_coding	OTTHUMT00000042869.1	236	0.00	0	C	NM_020245		158834165	158834165	+1	no_errors	ENST00000367097	ensembl	human	known	69_37n	silent	220	21.71	61	SNP	1.000	T
VCAN	1462	genome.wustl.edu	37	5	82817939	82817939	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AR-A1AV-01A-21D-A12Q-09	TCGA-AR-A1AV-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	0a0dd89c-5ec8-4015-9616-733e41361a64	77cb1c29-4009-4669-bdb6-3ec5e74b65d1	g.chr5:82817939G>T	ENST00000265077.3	+	7	4379	c.3814G>T	c.(3814-3816)Gaa>Taa	p.E1272*	VCAN_ENST00000512590.2_Nonsense_Mutation_p.E1224*|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000342785.4_Nonsense_Mutation_p.E1272*	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1272	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	CAAGGAAACAGAAACCGATAT	0.453																																						dbGAP											0													108.0	104.0	105.0					5																	82817939		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.3814G>T	5.37:g.82817939G>T	ENSP00000265077:p.Glu1272*	Somatic		WXS	Illumina GAIIx	Phase_IV	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Nonsense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EGF-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EGF-like,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.E1272*	ENST00000265077.3	37	c.3814	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	G	42	9.544541	0.99201	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	.	.	.	5.81	5.81	0.92471	.	0.199091	0.36740	N	0.002435	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	20.0833	0.97789	0.0:0.0:1.0:0.0	.	.	.	.	X	1272;1272;1224	.	ENSP00000265077:E1272X	E	+	1	0	VCAN	82853695	1.000000	0.71417	0.921000	0.36526	0.041000	0.13682	6.746000	0.74866	2.756000	0.94617	0.655000	0.94253	GAA	VCAN	-	NULL	ENSG00000038427		0.453	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	170	0.00	0	G	NM_004385		82817939	82817939	+1	no_errors	ENST00000265077	ensembl	human	known	69_37n	nonsense	134	16.25	26	SNP	0.844	T
WDR20	91833	genome.wustl.edu	37	14	102675094	102675094	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A1AV-01A-21D-A12Q-09	TCGA-AR-A1AV-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	0a0dd89c-5ec8-4015-9616-733e41361a64	77cb1c29-4009-4669-bdb6-3ec5e74b65d1	g.chr14:102675094G>A	ENST00000342702.3	+	3	618	c.587G>A	c.(586-588)gGa>gAa	p.G196E	WDR20_ENST00000322340.5_Intron|WDR20_ENST00000556807.1_Missense_Mutation_p.G135E|WDR20_ENST00000454394.2_Missense_Mutation_p.G227E|WDR20_ENST00000499851.2_Intron|WDR20_ENST00000424963.2_Missense_Mutation_p.G72E|WDR20_ENST00000556511.2_Missense_Mutation_p.G135E|WDR20_ENST00000299135.6_3'UTR|WDR20_ENST00000335263.5_Missense_Mutation_p.G196E|WDR20_ENST00000545563.1_Missense_Mutation_p.G23E	NM_001242418.1|NM_144574.3	NP_001229347.1|NP_653175.2	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	196										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						CTGAAGCAGGGAGAGAGCTTT	0.547																																						dbGAP											0													39.0	38.0	38.0					14																	102675094		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC028387	CCDS9968.1, CCDS9969.1, CCDS9970.1, CCDS55942.1, CCDS55943.1, CCDS55944.1, CCDS55945.1	14q32.31	2013-01-09				ENSG00000140153		"""WD repeat domain containing"""	19667	protein-coding gene	gene with protein product							Standard	NM_181291		Approved	DMR, MGC33177, FLJ33659	uc010txu.2	Q8TBZ3		ENST00000342702.3:c.587G>A	14.37:g.102675094G>A	ENSP00000341037:p.Gly196Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DN18|E7EUY8|F8W9S4|G3V2F8|G3V5R0|H0YJJ1|Q86TU2|Q8NCN7|Q8WXX2|Q9UF86	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G227E	ENST00000342702.3	37	c.680	CCDS9969.1	14	.	.	.	.	.	.	.	.	.	.	G	20.1	3.935850	0.73442	.	.	ENSG00000140153	ENST00000335263;ENST00000299135;ENST00000424963;ENST00000342702;ENST00000556807;ENST00000454394;ENST00000401892;ENST00000545563	T;T;T;T;T;T	0.75704	-0.02;-0.01;-0.02;-0.22;-0.23;-0.96	5.31	5.31	0.75309	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.87478	0.6187	M	0.80616	2.505	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.999	D;D;D;D;D;D;D	0.97110	0.991;1.0;1.0;1.0;0.996;0.997;0.993	D	0.88699	0.3214	10	0.87932	D	0	.	19.3355	0.94316	0.0:0.0:1.0:0.0	.	227;208;135;196;135;72;196	E7EUY8;Q5JPH5;G3V2F8;Q8TBZ3-2;F8W9S4;B3KR43;Q8TBZ3	.;.;.;.;.;.;WDR20_HUMAN	E	196;135;72;196;135;227;126;23	ENSP00000335434:G196E;ENSP00000395793:G72E;ENSP00000341037:G196E;ENSP00000450636:G135E;ENSP00000406084:G227E;ENSP00000437927:G23E	ENSP00000299135:G135E	G	+	2	0	WDR20	101744847	1.000000	0.71417	0.961000	0.40146	0.996000	0.88848	9.420000	0.97426	2.652000	0.90054	0.655000	0.94253	GGA	WDR20	-	superfamily_WD40_repeat_dom	ENSG00000140153		0.547	WDR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR20	HGNC	protein_coding	OTTHUMT00000414963.1	74	0.00	0	G	NM_181291		102675094	102675094	+1	no_errors	ENST00000454394	ensembl	human	known	69_37n	missense	32	50.00	32	SNP	1.000	A
ZNF729	100287226	genome.wustl.edu	37	19	22487564	22487564	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A1AV-01A-21D-A12Q-09	TCGA-AR-A1AV-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	0a0dd89c-5ec8-4015-9616-733e41361a64	77cb1c29-4009-4669-bdb6-3ec5e74b65d1	g.chr19:22487564G>A	ENST00000601693.1	+	3	350	c.232G>A	c.(232-234)Gag>Aag	p.E78K	ZNF729_ENST00000357491.6_Missense_Mutation_p.E78K			A6NN14	ZN729_HUMAN	zinc finger protein 729	78	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|lung(32)|ovary(3)	41						GAAGAGACATGAGATGGTAAC	0.393																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS59368.1	19p12	2014-02-14			ENSG00000196350	ENSG00000196350		"""Zinc fingers, C2H2-type"", ""-"""	32464	protein-coding gene	gene with protein product							Standard	NM_001242680		Approved		uc021urs.1	A6NN14	OTTHUMG00000182938	ENST00000601693.1:c.232G>A	19.37:g.22487564G>A	ENSP00000469582:p.Glu78Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	M0QY45	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.E78K	ENST00000601693.1	37	c.232	CCDS59368.1	19	.	.	.	.	.	.	.	.	.	.	.	6.640	0.486582	0.12641	.	.	ENSG00000196350	ENST00000357491	T	0.06768	3.26	0.824	-0.463	0.12164	.	.	.	.	.	T	0.04227	0.0117	L	0.31752	0.955	.	.	.	.	.	.	.	.	.	T	0.42413	-0.9453	6	0.06625	T	0.88	.	2.6643	0.05035	0.4709:0.0:0.5291:0.0	.	.	.	.	K	78	ENSP00000350085:E78K	ENSP00000350085:E78K	E	+	1	0	ZNF729	22279404	0.933000	0.31639	0.551000	0.28230	0.567000	0.35839	0.103000	0.15292	0.192000	0.20272	0.195000	0.17529	GAG	ZNF729	-	pfscan_Krueppel-associated_box	ENSG00000196350		0.393	ZNF729-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF729	HGNC	protein_coding	OTTHUMT00000464396.1	706	0.00	0	G	XM_496301		22487564	22487564	+1	no_stop_codon	ENST00000357491	ensembl	human	known	69_37n	missense	522	17.25	109	SNP	0.057	A
