#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
BTBD17	388419	genome.wustl.edu	37	17	72352897	72352897	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0DD-01A-31D-A12Q-09	TCGA-BH-A0DD-11A-23D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1a59cd97-2ee8-4f82-b542-e2f35171bc01	a2afc239-b11b-4105-a2da-b183e9e78247	g.chr17:72352897C>A	ENST00000375366.3	-	3	1462	c.1336G>T	c.(1336-1338)Gac>Tac	p.D446Y		NM_001080466.1	NP_001073935.1	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17	446					negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|lung(4)	6						CGCTGCAGGTCGGCGTGCGCC	0.677																																						dbGAP											0													57.0	53.0	55.0					17																	72352897		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS32719.1	17q25.1	2013-01-08			ENSG00000204347	ENSG00000204347		"""BTB/POZ domain containing"""	33758	protein-coding gene	gene with protein product	"""transport and golgi organization 10 homolog A (Drosophila)"""						Standard	NM_001080466		Approved	LGALS3BPL, BTBD17A, TANGO10A	uc002jkn.2	A6NE02	OTTHUMG00000178580	ENST00000375366.3:c.1336G>T	17.37:g.72352897C>A	ENSP00000364515:p.Asp446Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like	p.D446Y	ENST00000375366.3	37	c.1336	CCDS32719.1	17	.	.	.	.	.	.	.	.	.	.	C	25.2	4.609825	0.87258	.	.	ENSG00000204347	ENST00000375366	D	0.84730	-1.89	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.89431	0.6713	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90713	0.4629	10	0.87932	D	0	-26.9516	18.7176	0.91682	0.0:1.0:0.0:0.0	.	446	A6NE02	BTBDH_HUMAN	Y	446	ENSP00000364515:D446Y	ENSP00000364515:D446Y	D	-	1	0	BTBD17	69864492	0.999000	0.42202	0.874000	0.34290	0.932000	0.56968	5.997000	0.70646	2.416000	0.81992	0.556000	0.70494	GAC	BTBD17	-	NULL	ENSG00000204347		0.677	BTBD17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD17	HGNC	protein_coding	OTTHUMT00000442542.1	99	0.99	1	C	NM_001080466		72352897	72352897	-1	no_errors	ENST00000375366	ensembl	human	known	69_37n	missense	105	21.48	29	SNP	1.000	A
BTBD17	388419	genome.wustl.edu	37	17	72353000	72353000	+	Silent	SNP	C	C	T			TCGA-BH-A0DD-01A-31D-A12Q-09	TCGA-BH-A0DD-11A-23D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1a59cd97-2ee8-4f82-b542-e2f35171bc01	a2afc239-b11b-4105-a2da-b183e9e78247	g.chr17:72353000C>T	ENST00000375366.3	-	3	1359	c.1233G>A	c.(1231-1233)aaG>aaA	p.K411K		NM_001080466.1	NP_001073935.1	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17	411					negative regulation of viral genome replication (GO:0045071)|response to virus (GO:0009615)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|lung(4)	6						CCAGCACCGTCTTCTGGAAGC	0.766																																						dbGAP											0													4.0	6.0	5.0					17																	72353000		2064	4024	6088	-	-	-	SO:0001819	synonymous_variant	0				CCDS32719.1	17q25.1	2013-01-08			ENSG00000204347	ENSG00000204347		"""BTB/POZ domain containing"""	33758	protein-coding gene	gene with protein product	"""transport and golgi organization 10 homolog A (Drosophila)"""						Standard	NM_001080466		Approved	LGALS3BPL, BTBD17A, TANGO10A	uc002jkn.2	A6NE02	OTTHUMG00000178580	ENST00000375366.3:c.1233G>A	17.37:g.72353000C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like	p.K411	ENST00000375366.3	37	c.1233	CCDS32719.1	17																																																																																			BTBD17	-	NULL	ENSG00000204347		0.766	BTBD17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD17	HGNC	protein_coding	OTTHUMT00000442542.1	19	0.00	0	C	NM_001080466		72353000	72353000	-1	no_errors	ENST00000375366	ensembl	human	known	69_37n	silent	21	25.00	7	SNP	1.000	T
CACNA1C	775	genome.wustl.edu	37	12	2602428	2602428	+	Missense_Mutation	SNP	C	C	T	rs377345545		TCGA-BH-A0DD-01A-31D-A12Q-09	TCGA-BH-A0DD-11A-23D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1a59cd97-2ee8-4f82-b542-e2f35171bc01	a2afc239-b11b-4105-a2da-b183e9e78247	g.chr12:2602428C>T	ENST00000347598.4	+	7	989	c.989C>T	c.(988-990)aCg>aTg	p.T330M	CACNA1C_ENST00000399638.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000399591.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000399601.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000399629.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000399644.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000327702.7_Missense_Mutation_p.T330M|CACNA1C_ENST00000399649.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000399617.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000344100.3_Missense_Mutation_p.T330M|CACNA1C_ENST00000399655.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000399634.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000399597.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000402845.3_Missense_Mutation_p.T330M|CACNA1C_ENST00000480911.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000335762.5_Missense_Mutation_p.T330M|CACNA1C_ENST00000399595.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000399603.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000399641.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000399621.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000399606.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000399637.1_Missense_Mutation_p.T330M|CACNA1C_ENST00000406454.3_Missense_Mutation_p.T330M	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	330					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CAGAACGGCACGGTGTGCAAG	0.587																																						dbGAP											0													103.0	105.0	104.0					12																	2602428		2194	4288	6482	-	-	-	SO:0001583	missense	0			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.989C>T	12.37:g.2602428C>T	ENSP00000266376:p.Thr330Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.T330M	ENST00000347598.4	37	c.989	CCDS44788.1	12	.	.	.	.	.	.	.	.	.	.	C	18.83	3.706974	0.68615	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96334	-3.9;-3.91;-3.95;-3.91;-3.9;-3.91;-3.93;-3.83;-3.87;-3.91;-3.84;-3.83;-3.92;-3.96;-3.84;-3.77;-3.98;-3.93;-3.9;-3.94;-3.86;-3.94;-3.97	5.07	5.07	0.68467	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.96629	0.8900	L	0.28649	0.875	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;P;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;0.942;1.0;1.0;1.0;1.0;0.988;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;P;D;D;D;D;P;D;D;D;D;D;D;D	0.97110	0.999;0.998;0.996;0.999;0.999;0.997;0.999;0.992;0.988;0.999;0.997;0.508;0.999;0.999;1.0;0.997;0.611;0.999;0.973;0.997;0.999;0.999;0.997;0.997	D	0.96527	0.9390	10	0.42905	T	0.14	.	18.6365	0.91380	0.0:1.0:0.0:0.0	.	330;327;330;330;330;330;330;330;330;330;330;301;330;330;330;330;330;330;330;330;330;330;330;330	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	M	330;330;330;330;330;330;330;330;330;330;330;330;330;330;330;330;330;330;330;330;330;330;330;171	ENSP00000336982:T330M;ENSP00000382563:T330M;ENSP00000437936:T330M;ENSP00000382552:T330M;ENSP00000382547:T330M;ENSP00000382506:T330M;ENSP00000382530:T330M;ENSP00000382546:T330M;ENSP00000382500:T330M;ENSP00000382549:T330M;ENSP00000266376:T330M;ENSP00000382515:T330M;ENSP00000382510:T330M;ENSP00000341092:T330M;ENSP00000382537:T330M;ENSP00000329877:T330M;ENSP00000382557:T330M;ENSP00000385724:T330M;ENSP00000382512:T330M;ENSP00000382542:T330M;ENSP00000382526:T330M;ENSP00000385896:T330M;ENSP00000382504:T330M	ENSP00000323129:T171M	T	+	2	0	CACNA1C	2472689	1.000000	0.71417	0.962000	0.40283	0.393000	0.30537	7.609000	0.82925	2.637000	0.89404	0.462000	0.41574	ACG	CACNA1C	-	pfam_Ion_trans_dom	ENSG00000151067		0.587	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1	84	0.00	0	C	NM_000719		2602428	2602428	+1	no_errors	ENST00000399634	ensembl	human	known	69_37n	missense	94	20.17	24	SNP	1.000	T
DISP2	85455	genome.wustl.edu	37	15	40660863	40660863	+	Silent	SNP	C	C	T			TCGA-BH-A0DD-01A-31D-A12Q-09	TCGA-BH-A0DD-11A-23D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1a59cd97-2ee8-4f82-b542-e2f35171bc01	a2afc239-b11b-4105-a2da-b183e9e78247	g.chr15:40660863C>T	ENST00000267889.3	+	8	2637	c.2550C>T	c.(2548-2550)tgC>tgT	p.C850C	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	850					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GCCCCAGCTGCGCCCGCCTGG	0.657																																						dbGAP											0													17.0	20.0	19.0					15																	40660863		2199	4295	6494	-	-	-	SO:0001819	synonymous_variant	0			AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.2550C>T	15.37:g.40660863C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6AHW3|Q9C0C1	Silent	SNP	pfscan_SSD	p.C850	ENST00000267889.3	37	c.2550	CCDS10056.1	15																																																																																			DISP2	-	NULL	ENSG00000140323		0.657	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DISP2	HGNC	protein_coding	OTTHUMT00000252249.1	11	0.00	0	C	NM_033510		40660863	40660863	+1	no_errors	ENST00000267889	ensembl	human	known	69_37n	silent	9	30.77	4	SNP	0.198	T
EBF1	1879	genome.wustl.edu	37	5	158523388	158523388	+	Silent	SNP	G	G	A			TCGA-BH-A0DD-01A-31D-A12Q-09	TCGA-BH-A0DD-11A-23D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1a59cd97-2ee8-4f82-b542-e2f35171bc01	a2afc239-b11b-4105-a2da-b183e9e78247	g.chr5:158523388G>A	ENST00000313708.6	-	3	600	c.318C>T	c.(316-318)aaC>aaT	p.N106N	EBF1_ENST00000380654.4_Silent_p.N106N|EBF1_ENST00000517373.1_Silent_p.N106N|EBF1_ENST00000518836.1_5'UTR	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	106					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGTGAATTCCGTTATTGGTCT	0.592			T	HMGA2	lipoma																																	dbGAP		Dom	yes		5	5q34	1879	early B-cell factor 1		M	0													120.0	107.0	112.0					5																	158523388		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"""early B-cell factor"""	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.318C>T	5.37:g.158523388G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8IW11	Silent	SNP	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,superfamily_HLH_DNA-bd,smart_IPT_TIG_rcpt	p.N106	ENST00000313708.6	37	c.318	CCDS4343.1	5																																																																																			EBF1	-	NULL	ENSG00000164330		0.592	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	EBF1	HGNC	protein_coding	OTTHUMT00000252649.1	209	0.94	2	G	NM_024007		158523388	158523388	-1	no_errors	ENST00000313708	ensembl	human	known	69_37n	silent	132	26.11	47	SNP	0.968	A
FAM131C	348487	genome.wustl.edu	37	1	16386065	16386065	+	Silent	SNP	T	T	A	rs61769893	byFrequency	TCGA-BH-A0DD-01A-31D-A12Q-09	TCGA-BH-A0DD-11A-23D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1a59cd97-2ee8-4f82-b542-e2f35171bc01	a2afc239-b11b-4105-a2da-b183e9e78247	g.chr1:16386065T>A	ENST00000375662.4	-	6	669	c.486A>T	c.(484-486)acA>acT	p.T162T	FAM131C_ENST00000494078.1_5'UTR	NM_182623.2	NP_872429.2	Q96AQ9	F131C_HUMAN	family with sequence similarity 131, member C	162								p.T162T(1)		large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		AAGCGCTCAGTGTGGCCTCTG	0.662																																						dbGAP											1	Substitution - coding silent(1)	large_intestine(1)											24.0	23.0	24.0					1																	16386065		1844	4061	5905	-	-	-	SO:0001819	synonymous_variant	0				CCDS41270.1	1p36.13	2008-02-05	2007-03-20	2007-03-20	ENSG00000185519	ENSG00000185519			26717	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 117"""	C1orf117		12477932	Standard	NM_182623		Approved	FLJ36766	uc001axz.4	Q96AQ9	OTTHUMG00000009525	ENST00000375662.4:c.486A>T	1.37:g.16386065T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T5Q5|Q8N3X3|Q8N9P9	Silent	SNP	superfamily_Chromodomain-like	p.T162	ENST00000375662.4	37	c.486	CCDS41270.1	1																																																																																			FAM131C	-	NULL	ENSG00000185519		0.662	FAM131C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM131C	HGNC	protein_coding	OTTHUMT00000026319.1	26	0.00	0	T	NM_182623		16386065	16386065	-1	no_errors	ENST00000375662	ensembl	human	known	69_37n	silent	15	16.67	3	SNP	0.178	A
FAM185A	222234	genome.wustl.edu	37	7	102390050	102390050	+	Silent	SNP	G	G	T			TCGA-BH-A0DD-01A-31D-A12Q-09	TCGA-BH-A0DD-11A-23D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1a59cd97-2ee8-4f82-b542-e2f35171bc01	a2afc239-b11b-4105-a2da-b183e9e78247	g.chr7:102390050G>T	ENST00000413034.2	+	1	396	c.396G>T	c.(394-396)gtG>gtT	p.V132V	FAM185A_ENST00000481697.1_3'UTR|FAM185A_ENST00000409231.3_Intron	NM_001145268.1	NP_001138740	Q8N0U4	F185A_HUMAN	family with sequence similarity 185, member A	132										kidney(1)	1						TGGCCATTGTGTCTGATACTA	0.632																																						dbGAP											0													3.0	4.0	3.0					7																	102390050		640	1475	2115	-	-	-	SO:0001819	synonymous_variant	0			BC029175	CCDS47676.1, CCDS47677.1	7q22.1	2009-07-09			ENSG00000222011	ENSG00000222011			22412	protein-coding gene	gene with protein product							Standard	NM_001145268		Approved	MGC35361	uc011klf.2	Q8N0U4	OTTHUMG00000154140	ENST00000413034.2:c.396G>T	7.37:g.102390050G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MUR7|B4DQD3|C9IZ91	Silent	SNP	NULL	p.V132	ENST00000413034.2	37	c.396	CCDS47676.1	7																																																																																			FAM185A	-	NULL	ENSG00000222011		0.632	FAM185A-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM185A	HGNC	protein_coding	OTTHUMT00000349482.1	15	0.00	0	G	NM_001145268		102390050	102390050	+1	no_errors	ENST00000413034	ensembl	human	known	69_37n	silent	25	24.24	8	SNP	0.139	T
FCGRT	2217	genome.wustl.edu	37	19	50017150	50017150	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A0DD-01A-31D-A12Q-09	TCGA-BH-A0DD-11A-23D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1a59cd97-2ee8-4f82-b542-e2f35171bc01	a2afc239-b11b-4105-a2da-b183e9e78247	g.chr19:50017150T>A	ENST00000221466.5	+	3	571	c.85T>A	c.(85-87)Tcc>Acc	p.S29T	FCGRT_ENST00000426395.3_Missense_Mutation_p.S29T|FCGRT_ENST00000596975.1_Missense_Mutation_p.S29T|FCGRT_ENST00000594823.1_3'UTR|FCGRT_ENST00000599988.1_Intron	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	29	Alpha-1.				antigen processing and presentation (GO:0019882)|IgG immunoglobulin transcytosis in epithelial cells mediated by FcRn immunoglobulin receptor (GO:0002416)|immune response (GO:0006955)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG binding (GO:0019864)			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		AAGCCACCTCTCCCTCCTGTA	0.612																																						dbGAP											0													175.0	172.0	173.0					19																	50017150		2203	4300	6503	-	-	-	SO:0001583	missense	0			U12255	CCDS12770.1	19q13.3	2013-01-11				ENSG00000104870		"""Immunoglobulin superfamily / C1-set domain containing"""	3621	protein-coding gene	gene with protein product		601437				7964511, 8646894	Standard	NM_001136019		Approved	FCRN, alpha-chain	uc002pog.2	P55899		ENST00000221466.5:c.85T>A	19.37:g.50017150T>A	ENSP00000221466:p.Ser29Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5HYM5|Q9HBV7|Q9NZ19	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like	p.S29T	ENST00000221466.5	37	c.85	CCDS12770.1	19	.	.	.	.	.	.	.	.	.	.	T	17.20	3.330275	0.60743	.	.	ENSG00000104870	ENST00000221466;ENST00000426395;ENST00000415900;ENST00000452439	T;T	0.01051	5.4;5.4	4.82	1.49	0.22878	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.374003	0.19659	N	0.109016	T	0.02767	0.0083	M	0.81112	2.525	0.19300	N	0.999975	D	0.61080	0.989	P	0.50270	0.636	T	0.39702	-0.9601	10	0.87932	D	0	.	3.5744	0.07929	0.0:0.2131:0.1971:0.5898	.	29	P55899	FCGRN_HUMAN	T	29	ENSP00000221466:S29T;ENSP00000410798:S29T	ENSP00000221466:S29T	S	+	1	0	FCGRT	54708962	0.016000	0.18221	0.093000	0.20910	0.866000	0.49608	0.288000	0.18939	0.034000	0.15491	0.454000	0.30748	TCC	FCGRT	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	ENSG00000104870		0.612	FCGRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGRT	HGNC	protein_coding	OTTHUMT00000465267.1	205	0.95	2	T			50017150	50017150	+1	no_errors	ENST00000221466	ensembl	human	known	69_37n	missense	212	19.10	51	SNP	0.151	A
FREM3	166752	genome.wustl.edu	37	4	144545442	144545442	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A0DD-01A-31D-A12Q-09	TCGA-BH-A0DD-11A-23D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1a59cd97-2ee8-4f82-b542-e2f35171bc01	a2afc239-b11b-4105-a2da-b183e9e78247	g.chr4:144545442C>T	ENST00000329798.5	-	4	5471	c.5472G>A	c.(5470-5472)tgG>tgA	p.W1824*		NM_001168235.1	NP_001161707.1	P0C091	FREM3_HUMAN	FRAS1 related extracellular matrix 3	1824	Calx-beta 1.				cell adhesion (GO:0007155)|cell communication (GO:0007154)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	8						TATTGGTCTTCCATTTGAAAT	0.373																																						dbGAP											0													237.0	202.0	213.0					4																	144545442		692	1591	2283	-	-	-	SO:0001587	stop_gained	0			BX091796	CCDS54808.1	4q31.21	2011-06-09			ENSG00000183090	ENSG00000183090			25172	protein-coding gene	gene with protein product		608946				15345741	Standard	NM_001168235		Approved		uc021xsj.1	P0C091	OTTHUMG00000161577	ENST00000329798.5:c.5472G>A	4.37:g.144545442C>T	ENSP00000332886:p.Trp1824*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.W1824*	ENST00000329798.5	37	c.5472	CCDS54808.1	4	.	.	.	.	.	.	.	.	.	.	C	42	9.485640	0.99184	.	.	ENSG00000183090	ENST00000329798	.	.	.	4.07	1.55	0.23275	.	0.072911	0.53938	D	0.000048	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-0.2165	7.0688	0.25167	0.0:0.3034:0.0:0.6966	.	.	.	.	X	1824	.	ENSP00000332886:W1824X	W	-	3	0	FREM3	144764892	0.050000	0.20438	0.916000	0.36221	0.502000	0.33828	-1.081000	0.03403	0.616000	0.30141	-0.312000	0.09012	TGG	FREM3	-	pfam_Calx_beta,smart_Calx_beta	ENSG00000183090		0.373	FREM3-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	FREM3	HGNC	protein_coding	OTTHUMT00000365391.1	310	0.64	2	C	XM_094074		144545442	144545442	-1	no_errors	ENST00000329798	ensembl	human	putative	69_37n	nonsense	177	27.94	69	SNP	0.998	T
HSPG2	3339	genome.wustl.edu	37	1	22167762	22167762	+	Silent	SNP	G	G	A			TCGA-BH-A0DD-01A-31D-A12Q-09	TCGA-BH-A0DD-11A-23D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1a59cd97-2ee8-4f82-b542-e2f35171bc01	a2afc239-b11b-4105-a2da-b183e9e78247	g.chr1:22167762G>A	ENST00000374695.3	-	71	9424	c.9345C>T	c.(9343-9345)tcC>tcT	p.S3115S		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3115	Ig-like C2-type 17.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CGGGGAGCACGGACACTGTAG	0.642																																						dbGAP											0													43.0	46.0	45.0					1																	22167762		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.9345C>T	1.37:g.22167762G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q16287|Q5SZI3|Q9H3V5	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like	p.S3115	ENST00000374695.3	37	c.9345	CCDS30625.1	1																																																																																			HSPG2	-	smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000142798		0.642	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	36	0.00	0	G	NM_005529		22167762	22167762	-1	no_errors	ENST00000374695	ensembl	human	known	69_37n	silent	30	16.67	6	SNP	0.622	A
IDH1	3417	genome.wustl.edu	37	2	209106864	209106864	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0DD-01A-31D-A12Q-09	TCGA-BH-A0DD-11A-23D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1a59cd97-2ee8-4f82-b542-e2f35171bc01	a2afc239-b11b-4105-a2da-b183e9e78247	g.chr2:209106864T>C	ENST00000415913.1	-	7	1085	c.704A>G	c.(703-705)tAc>tGc	p.Y235C	IDH1_ENST00000345146.2_Missense_Mutation_p.Y235C|IDH1_ENST00000446179.1_Missense_Mutation_p.Y235C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	235					2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		CTGGGACTTGTACTGCCTGGG	0.433			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	dbGAP		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	0													116.0	114.0	115.0					2																	209106864		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.704A>G	2.37:g.209106864T>C	ENSP00000390265:p.Tyr235Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP_euk-typ,tigrfam_Isocitrate_DH_NADP_euk-typ	p.Y235C	ENST00000415913.1	37	c.704	CCDS2381.1	2	.	.	.	.	.	.	.	.	.	.	T	24.0	4.483310	0.84854	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913	T;T;T	0.78126	-1.15;-1.15;-1.15	6.17	6.17	0.99709	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93119	0.7809	H	0.98594	4.275	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95566	0.8634	10	0.87932	D	0	-13.9464	16.8222	0.85835	0.0:0.0:0.0:1.0	.	235	O75874	IDHC_HUMAN	C	235	ENSP00000260985:Y235C;ENSP00000410513:Y235C;ENSP00000390265:Y235C	ENSP00000260985:Y235C	Y	-	2	0	IDH1	208815109	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.960000	0.87893	2.371000	0.80710	0.533000	0.62120	TAC	IDH1	-	pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP_euk-typ,tigrfam_Isocitrate_DH_NADP_euk-typ	ENSG00000138413		0.433	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IDH1	HGNC	protein_coding	OTTHUMT00000336672.1	120	0.83	1	T			209106864	209106864	-1	no_errors	ENST00000345146	ensembl	human	known	69_37n	missense	100	21.26	27	SNP	1.000	C
IFITM3	10410	genome.wustl.edu	37	11	319874	319874	+	Silent	SNP	G	G	A			TCGA-BH-A0DD-01A-31D-A12Q-09	TCGA-BH-A0DD-11A-23D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1a59cd97-2ee8-4f82-b542-e2f35171bc01	a2afc239-b11b-4105-a2da-b183e9e78247	g.chr11:319874G>A	ENST00000399808.4	-	2	602	c.366C>T	c.(364-366)atC>atT	p.I122I	RP11-326C3.14_ENST00000602809.1_lincRNA|RP11-326C3.11_ENST00000602756.1_RNA|IFITM3_ENST00000602735.1_Silent_p.I101I|RP11-326C3.11_ENST00000508004.2_RNA|IFITM3_ENST00000526811.1_Silent_p.I101I|RP11-326C3.11_ENST00000602429.1_RNA|RP11-326C3.10_ENST00000534271.1_RNA	NM_021034.2	NP_066362.2	Q01628	IFM3_HUMAN	interferon induced transmembrane protein 3	122	Interaction with VAPA.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral transcription (GO:0032897)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CTGGGATGACGATGAGCAGAA	0.582																																						dbGAP											0													78.0	81.0	80.0					11																	319874		2036	4171	6207	-	-	-	SO:0001819	synonymous_variant	0			X57352	CCDS41585.1	11p15.5	2011-05-24	2011-05-24		ENSG00000142089	ENSG00000142089			5414	protein-coding gene	gene with protein product		605579	"""interferon induced transmembrane protein 3 (1-8U)"""			1906403, 16326387	Standard	NM_021034		Approved	1-8U	uc001lpa.2	Q01628		ENST00000399808.4:c.366C>T	11.37:g.319874G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53Y76|Q96HK8|Q96J15	Silent	SNP	pfam_Interferon-induced_TM_protein	p.I122	ENST00000399808.4	37	c.366	CCDS41585.1	11	.	.	.	.	.	.	.	.	.	.	g	5.611	0.297446	0.10622	.	.	ENSG00000142089	ENST00000270031	.	.	.	4.61	-3.6	0.04570	.	405.623000	0.01930	N	0.041178	T	0.47619	0.1455	.	.	.	0.09310	N	0.99999	.	.	.	.	.	.	T	0.53542	-0.8424	6	0.87932	D	0	0.8222	10.5669	0.45177	0.6078:0.0:0.3922:0.0	.	.	.	.	C	103	.	ENSP00000372047:R103C	R	-	1	0	IFITM3	309874	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.075000	0.11431	-1.180000	0.02734	-1.305000	0.01319	CGT	IFITM3	-	pfam_Interferon-induced_TM_protein	ENSG00000142089		0.582	IFITM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IFITM3	HGNC	protein_coding	OTTHUMT00000384765.1	121	0.82	1	G	NM_021034		319874	319874	-1	no_errors	ENST00000399808	ensembl	human	known	69_37n	silent	191	18.03	42	SNP	0.000	A
LAMC3	10319	genome.wustl.edu	37	9	133945108	133945108	+	Silent	SNP	C	C	T			TCGA-BH-A0DD-01A-31D-A12Q-09	TCGA-BH-A0DD-11A-23D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1a59cd97-2ee8-4f82-b542-e2f35171bc01	a2afc239-b11b-4105-a2da-b183e9e78247	g.chr9:133945108C>T	ENST00000361069.4	+	17	3073	c.2940C>T	c.(2938-2940)aaC>aaT	p.N980N	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	980	Laminin EGF-like 11. {ECO:0000255|PROSITE-ProRule:PRU00460}.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GCCACGAGAACGGCACATGCG	0.652																																						dbGAP											0													42.0	33.0	36.0					9																	133945108		2202	4298	6500	-	-	-	SO:0001819	synonymous_variant	0			AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.2940C>T	9.37:g.133945108C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B1APX9|B1APY0|Q59H72	Silent	SNP	pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.N980	ENST00000361069.4	37	c.2940	CCDS6938.1	9																																																																																			LAMC3	-	pfam_EGF_laminin,smart_EGF_laminin,smart_EGF-like,pfscan_EGF_laminin	ENSG00000050555		0.652	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC3	HGNC	protein_coding	OTTHUMT00000054717.3	16	0.00	0	C	NM_006059		133945108	133945108	+1	no_errors	ENST00000361069	ensembl	human	known	69_37n	silent	22	26.67	8	SNP	1.000	T
MUC12	10071	genome.wustl.edu	37	7	100639210	100639211	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BH-A0DD-01A-31D-A12Q-09	TCGA-BH-A0DD-11A-23D-A12Q-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1a59cd97-2ee8-4f82-b542-e2f35171bc01	a2afc239-b11b-4105-a2da-b183e9e78247	g.chr7:100639210_100639211insA	ENST00000379442.3	+	5	5795_5796	c.5795_5796insA	c.(5794-5799)acagctfs	p.A1933fs	MUC12_ENST00000536621.1_Frame_Shift_Ins_p.A1790fs			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	1933	28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						GAAAGCTCCACAGCTTCAGGTC	0.525																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.5796dupA	7.37:g.100639211_100639211dupA	ENSP00000368755:p.Ala1933fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6ND38|F5GWV9|Q9UKN0	Frame_Shift_Ins	INS	pfam_SEA	p.A1933fs	ENST00000379442.3	37	c.5795_5796		7																																																																																			MUC12	-	NULL	ENSG00000205277		0.525	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	21	0.00	0	-	XM_379904		100639210	100639211	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	frame_shift_ins	13	18.75	3	INS	0.000:0.000	A
MYL9	10398	genome.wustl.edu	37	20	35177631	35177631	+	Silent	SNP	C	C	T	rs529494337		TCGA-BH-A0DD-01A-31D-A12Q-09	TCGA-BH-A0DD-11A-23D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1a59cd97-2ee8-4f82-b542-e2f35171bc01	a2afc239-b11b-4105-a2da-b183e9e78247	g.chr20:35177631C>T	ENST00000279022.2	+	4	602	c.498C>T	c.(496-498)ggC>ggT	p.G166G	RP5-977B1.7_ENST00000439595.1_RNA|RP5-977B1.7_ENST00000425233.1_RNA|RP5-977B1.11_ENST00000561134.1_RNA|MYL9_ENST00000346786.2_Silent_p.G112G	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN	myosin, light chain 9, regulatory	166	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				axon guidance (GO:0007411)|muscle contraction (GO:0006936)|platelet aggregation (GO:0070527)|regulation of muscle contraction (GO:0006937)	cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|stress fiber (GO:0001725)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				TCAAACATGGCGCCAAGGATA	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		9258	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													87.0	73.0	78.0					20																	35177631		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			J02854	CCDS13276.1, CCDS13277.1	20q11.23	2013-01-10	2006-09-29		ENSG00000101335	ENSG00000101335		"""Myosins / Light chain"", ""EF-hand domain containing"""	15754	protein-coding gene	gene with protein product	"""myosin regulatory light chain 2, smooth muscle isoform"", ""myosin regulatory light chain 1"""	609905	"""myosin, light polypeptide 9, regulatory"""			2526655	Standard	NM_006097		Approved	MYRL2, MLC2, LC20, MRLC1	uc002xfl.2	P24844	OTTHUMG00000032387	ENST00000279022.2:c.498C>T	20.37:g.35177631C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	E1P5T6|Q9BQL9|Q9BUF9|Q9H136	Silent	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.G166	ENST00000279022.2	37	c.498	CCDS13276.1	20																																																																																			MYL9	-	pfscan_EF_HAND_2	ENSG00000101335		0.602	MYL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYL9	HGNC	protein_coding	OTTHUMT00000079015.2	74	0.00	0	C	NM_006097		35177631	35177631	+1	no_errors	ENST00000279022	ensembl	human	known	69_37n	silent	99	18.85	23	SNP	0.611	T
NOSTRIN	115677	genome.wustl.edu	37	2	169711935	169711936	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BH-A0DD-01A-31D-A12Q-09	TCGA-BH-A0DD-11A-23D-A12Q-09	AG	AG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1a59cd97-2ee8-4f82-b542-e2f35171bc01	a2afc239-b11b-4105-a2da-b183e9e78247	g.chr2:169711935_169711936delAG	ENST00000317647.7	+	11	1158_1159	c.929_930delAG	c.(928-930)cagfs	p.Q310fs	NOSTRIN_ENST00000444448.2_Frame_Shift_Del_p.Q367fs|NOSTRIN_ENST00000458381.2_Frame_Shift_Del_p.Q367fs|NOSTRIN_ENST00000397206.2_Frame_Shift_Del_p.Q232fs|NOSTRIN_ENST00000397209.2_Frame_Shift_Del_p.Q282fs|NOSTRIN_ENST00000445023.2_Frame_Shift_Del_p.Q232fs|NOSTRIN_ENST00000421711.2_Frame_Shift_Del_p.Q282fs	NM_001039724.3	NP_001034813.2	Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	310					endocytosis (GO:0006897)|negative regulation of transcription, DNA-templated (GO:0045892)|nitric oxide metabolic process (GO:0046209)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoskeleton (GO:0005856)|endocytic vesicle membrane (GO:0030666)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						TTGAGACTGCAGAGAGACATTG	0.386																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AJ532842	CCDS42771.1, CCDS42772.1, CCDS54415.1, CCDS54416.1	2q31.1	2013-08-05	2013-08-05		ENSG00000163072	ENSG00000163072			20203	protein-coding gene	gene with protein product		607496	"""nitric oxide synthase trafficker"""			12446846	Standard	NM_001171631		Approved	MGC20702	uc002ueg.3	Q8IVI9	OTTHUMG00000153990	ENST00000317647.7:c.929_930delAG	2.37:g.169711939_169711940delAG	ENSP00000318921:p.Gln310fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K2I9|B3KSF5|E7EPT9|Q27HG3|Q53S62|Q96CJ9	Frame_Shift_Del	DEL	pfam_SH3_domain,pfam_SH3_2,pfam_FCH,superfamily_SH3_domain,superfamily_HR1_rho-bd,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,prints_SH3_domain	p.D369fs	ENST00000317647.7	37	c.1100_1101	CCDS42771.1	2																																																																																			NOSTRIN	-	superfamily_HR1_rho-bd	ENSG00000163072		0.386	NOSTRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOSTRIN	HGNC	protein_coding	OTTHUMT00000333356.4	137	0.72	1	AG	NM_052946		169711935	169711936	+1	no_errors	ENST00000444448	ensembl	human	known	69_37n	frame_shift_del	79	34.96	43	DEL	0.993:0.663	-
PCDHGA9	56107	genome.wustl.edu	37	5	140782907	140782907	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DD-01A-31D-A12Q-09	TCGA-BH-A0DD-11A-23D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1a59cd97-2ee8-4f82-b542-e2f35171bc01	a2afc239-b11b-4105-a2da-b183e9e78247	g.chr5:140782907G>A	ENST00000573521.1	+	1	388	c.388G>A	c.(388-390)Gcc>Acc	p.A130T	PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	130	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAACGACAGCGCCCCAAAGTT	0.463																																						dbGAP											0													85.0	87.0	87.0					5																	140782907		1909	4134	6043	-	-	-	SO:0001583	missense	0			AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.388G>A	5.37:g.140782907G>A	ENSP00000460274:p.Ala130Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RU65|Q9Y5C9	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A130T	ENST00000573521.1	37	c.388	CCDS58981.1	5																																																																																			PCDHGA9	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000261934		0.463	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA9	HGNC	protein_coding	OTTHUMT00000437105.1	54	0.00	0	G	NM_018921		140782907	140782907	+1	no_errors	ENST00000573521	ensembl	human	known	69_37n	missense	27	28.95	11	SNP	0.342	A
PKN1	5585	genome.wustl.edu	37	19	14581448	14581448	+	Missense_Mutation	SNP	G	G	A	rs370730517		TCGA-BH-A0DD-01A-31D-A12Q-09	TCGA-BH-A0DD-11A-23D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1a59cd97-2ee8-4f82-b542-e2f35171bc01	a2afc239-b11b-4105-a2da-b183e9e78247	g.chr19:14581448G>A	ENST00000242783.6	+	20	2663	c.2498G>A	c.(2497-2499)cGc>cAc	p.R833H	PKN1_ENST00000342216.4_Missense_Mutation_p.R839H	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	833	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						GACGAGGTTCGCTACCCCCGC	0.682																																					NSCLC(185;2539 2965 10733 52867)	dbGAP											0													23.0	27.0	26.0					19																	14581448		1985	4144	6129	-	-	-	SO:0001583	missense	0			S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"""protein kinase C-like 1"""	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.2498G>A	19.37:g.14581448G>A	ENSP00000242783:p.Arg833His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom	p.R839H	ENST00000242783.6	37	c.2516	CCDS42513.1	19	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241206	0.58995	.	.	ENSG00000123143	ENST00000242783;ENST00000342216	T;T	0.53423	0.62;0.62	4.18	4.18	0.49190	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	U	0.000003	T	0.58177	0.2104	L	0.39085	1.19	0.50039	D	0.999849	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.62153	-0.6914	10	0.72032	D	0.01	-17.8204	14.0135	0.64511	0.0:0.0:1.0:0.0	.	839;833	Q16512-2;Q16512	.;PKN1_HUMAN	H	833;839	ENSP00000242783:R833H;ENSP00000343325:R839H	ENSP00000242783:R833H	R	+	2	0	PKN1	14442448	1.000000	0.71417	0.995000	0.50966	0.015000	0.08874	7.205000	0.77881	2.177000	0.69029	0.555000	0.69702	CGC	PKN1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000123143		0.682	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKN1	HGNC	protein_coding	OTTHUMT00000095510.1	29	0.00	0	G	NM_002741, NM_213560		14581448	14581448	+1	no_errors	ENST00000342216	ensembl	human	known	69_37n	missense	48	20.97	13	SNP	1.000	A
PTPRR	5801	genome.wustl.edu	37	12	71286478	71286478	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DD-01A-31D-A12Q-09	TCGA-BH-A0DD-11A-23D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1a59cd97-2ee8-4f82-b542-e2f35171bc01	a2afc239-b11b-4105-a2da-b183e9e78247	g.chr12:71286478G>A	ENST00000283228.2	-	2	790	c.338C>T	c.(337-339)gCa>gTa	p.A113V		NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	113					ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TACATTTGCTGCTGGGATTGG	0.413																																						dbGAP											0													170.0	157.0	162.0					12																	71286478		2203	4300	6503	-	-	-	SO:0001583	missense	0			D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.338C>T	12.37:g.71286478G>A	ENSP00000283228:p.Ala113Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.A113V	ENST00000283228.2	37	c.338	CCDS8998.1	12	.	.	.	.	.	.	.	.	.	.	G	15.00	2.702535	0.48307	.	.	ENSG00000153233	ENST00000283228	T	0.03920	3.76	6.05	4.01	0.46588	.	0.139042	0.31760	U	0.007120	T	0.04182	0.0116	N	0.19112	0.55	0.80722	D	1	B	0.28713	0.22	B	0.30401	0.115	T	0.51284	-0.8725	10	0.17369	T	0.5	-10.9903	15.0049	0.71504	0.0:0.0:0.6527:0.3473	.	113	Q15256	PTPRR_HUMAN	V	113	ENSP00000283228:A113V	ENSP00000283228:A113V	A	-	2	0	PTPRR	69572745	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	2.956000	0.49129	1.520000	0.48965	0.650000	0.86243	GCA	PTPRR	-	pirsf_Tyr_Pase_rcpt_R/non-rcpt_5	ENSG00000153233		0.413	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRR	HGNC	protein_coding	OTTHUMT00000404485.1	375	0.79	3	G	NM_002849		71286478	71286478	-1	no_errors	ENST00000283228	ensembl	human	known	69_37n	missense	370	26.33	134	SNP	0.987	A
RPS6	6194	genome.wustl.edu	37	9	19380191	19380191	+	Start_Codon_SNP	SNP	C	C	T			TCGA-BH-A0DD-01A-31D-A12Q-09	TCGA-BH-A0DD-11A-23D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1a59cd97-2ee8-4f82-b542-e2f35171bc01	a2afc239-b11b-4105-a2da-b183e9e78247	g.chr9:19380191C>T	ENST00000380394.4	-	1	61	c.3G>A	c.(1-3)atG>atA	p.M1I	RPS6_ENST00000380381.3_Start_Codon_SNP_p.M1I|RPS6_ENST00000315377.4_5'UTR|RPS6_ENST00000380384.1_5'UTR	NM_001010.2	NP_001001.2	P62753	RS6_HUMAN	ribosomal protein S6	1					activation-induced cell death of T cells (GO:0006924)|cellular protein metabolic process (GO:0044267)|erythrocyte development (GO:0048821)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|oogenesis stage (GO:0022605)|placenta development (GO:0001890)|positive regulation of apoptotic process (GO:0043065)|ribosomal small subunit assembly (GO:0000028)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|T cell differentiation in thymus (GO:0033077)|T cell proliferation involved in immune response (GO:0002309)|TOR signaling (GO:0031929)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|dendrite (GO:0030425)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural constituent of ribosome (GO:0003735)			endometrium(3)|lung(2)|ovary(1)|urinary_tract(1)	7		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)		Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234)		CACCTACCTTCATCTTGAAGC	0.577																																						dbGAP											0													160.0	140.0	147.0					9																	19380191		2203	4300	6503	-	-	-	SO:0001582	initiator_codon_variant	0				CCDS6492.1	9p21	2011-04-05			ENSG00000137154	ENSG00000137154		"""S ribosomal proteins"""	10429	protein-coding gene	gene with protein product	"""40S ribosomal protein S6"", ""phosphoprotein NP33"""	180460				1577483	Standard	NM_001010		Approved	S6	uc003znv.1	P62753	OTTHUMG00000019642	ENST00000380394.4:c.3G>A	9.37:g.19380191C>T	ENSP00000369757:p.Met1Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	P08227|P10660|Q4VBY7|Q8N6Z7	Missense_Mutation	SNP	pfam_Ribosomal_S6e,pirsf_Ribosomal_S6_euk	p.M1I	ENST00000380394.4	37	c.3	CCDS6492.1	9	.	.	.	.	.	.	.	.	.	.	C	20.2	3.947942	0.73787	.	.	ENSG00000137154	ENST00000380394;ENST00000380381	T	0.66995	-0.24	4.66	4.66	0.58398	.	0.258662	0.38605	U	0.001633	T	0.68054	0.2959	.	.	.	0.80722	D	1	P	0.49185	0.92	P	0.48524	0.58	T	0.68150	-0.5485	8	.	.	.	-15.1505	14.934	0.70938	0.0:1.0:0.0:0.0	.	1	P62753	RS6_HUMAN	I	1	ENSP00000369757:M1I	.	M	-	3	0	RPS6	19370191	1.000000	0.71417	1.000000	0.80357	0.456000	0.32438	5.914000	0.69964	2.562000	0.86427	0.557000	0.71058	ATG	RPS6	-	pfam_Ribosomal_S6e,pirsf_Ribosomal_S6_euk	ENSG00000137154		0.577	RPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6	HGNC	protein_coding	OTTHUMT00000051858.1	133	0.75	1	C	NM_001010	Missense_Mutation	19380191	19380191	-1	no_errors	ENST00000380394	ensembl	human	known	69_37n	missense	150	30.88	67	SNP	1.000	T
SIN3B	23309	genome.wustl.edu	37	19	16965008	16965008	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DD-01A-31D-A12Q-09	TCGA-BH-A0DD-11A-23D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1a59cd97-2ee8-4f82-b542-e2f35171bc01	a2afc239-b11b-4105-a2da-b183e9e78247	g.chr19:16965008G>A	ENST00000248054.5	+	8	1015	c.994G>A	c.(994-996)Gca>Aca	p.A332T	SIN3B_ENST00000379803.1_Missense_Mutation_p.A332T|SIN3B_ENST00000596802.1_Missense_Mutation_p.A332T					SIN3 transcription regulator family member B											endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CCGCTGCATCGCACTCTTCAA	0.612																																						dbGAP											0													60.0	56.0	57.0					19																	16965008		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014600	CCDS32946.1, CCDS74308.1	19p13.12	2013-08-21	2013-08-21						19354	protein-coding gene	gene with protein product		607777	"""SIN3 homolog B, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog B (yeast)"""			9734811	Standard	XM_005259832		Approved	KIAA0700	uc002ney.2	O75182		ENST00000248054.5:c.994G>A	19.37:g.16965008G>A	ENSP00000248054:p.Ala332Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact	p.A332T	ENST00000248054.5	37	c.994		19	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248585	0.80024	.	.	ENSG00000127511	ENST00000379803;ENST00000248054	T;T	0.43294	0.95;0.96	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.18383	0.0441	N	0.03608	-0.345	0.80722	D	1	P;P;P	0.48911	0.55;0.784;0.917	B;B;B	0.34452	0.074;0.183;0.168	T	0.12167	-1.0558	10	0.17369	T	0.5	-17.4933	17.4651	0.87630	0.0:0.0:1.0:0.0	.	332;332;332	O75182-2;O75182;O75182-3	.;SIN3B_HUMAN;.	T	332	ENSP00000369131:A332T;ENSP00000248054:A332T	ENSP00000248054:A332T	A	+	1	0	SIN3B	16826008	1.000000	0.71417	0.978000	0.43139	0.988000	0.76386	9.611000	0.98342	2.360000	0.80028	0.561000	0.74099	GCA	SIN3B	-	pfam_PAH,superfamily_PAH	ENSG00000127511		0.612	SIN3B-001	KNOWN	basic|appris_principal	protein_coding	SIN3B	HGNC	protein_coding	OTTHUMT00000462846.1	77	0.00	0	G	NM_015260		16965008	16965008	+1	no_errors	ENST00000379803	ensembl	human	known	69_37n	missense	92	15.60	17	SNP	0.987	A
ZNF366	167465	genome.wustl.edu	37	5	71739899	71739899	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A0DD-01A-31D-A12Q-09	TCGA-BH-A0DD-11A-23D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1a59cd97-2ee8-4f82-b542-e2f35171bc01	a2afc239-b11b-4105-a2da-b183e9e78247	g.chr5:71739899T>A	ENST00000318442.5	-	5	2409	c.1919A>T	c.(1918-1920)cAg>cTg	p.Q640L	RP11-389C8.2_ENST00000564956.1_RNA	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	640	Interaction with CTBP1.|Interaction with NRIP1.				negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GCAGAGCTGCTGGCTCTGGGG	0.652																																						dbGAP											0													110.0	124.0	119.0					5																	71739899		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"""Zinc fingers, C2H2-type"""	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.1919A>T	5.37:g.71739899T>A	ENSP00000313158:p.Gln640Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5HYI9|Q7RTV4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q640L	ENST00000318442.5	37	c.1919	CCDS4015.1	5	.	.	.	.	.	.	.	.	.	.	T	13.51	2.259191	0.39995	.	.	ENSG00000178175	ENST00000318442	T	0.09163	3.01	5.5	0.929	0.19449	.	1.889170	0.02438	N	0.084304	T	0.08935	0.0221	N	0.19112	0.55	0.09310	N	1	B	0.15141	0.012	B	0.14023	0.01	T	0.35151	-0.9800	10	0.51188	T	0.08	-8.1688	6.8154	0.23826	0.0:0.1488:0.4041:0.447	.	640	Q8N895	ZN366_HUMAN	L	640	ENSP00000313158:Q640L	ENSP00000313158:Q640L	Q	-	2	0	ZNF366	71775655	0.000000	0.05858	0.006000	0.13384	0.078000	0.17371	-0.132000	0.10467	-0.008000	0.14320	0.533000	0.62120	CAG	ZNF366	-	NULL	ENSG00000178175		0.652	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF366	HGNC	protein_coding	OTTHUMT00000218574.3	59	0.00	0	T			71739899	71739899	-1	no_errors	ENST00000318442	ensembl	human	known	69_37n	missense	60	31.46	28	SNP	0.008	A
