#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	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_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	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_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_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SDHAP3	728609	broad.mit.edu	37	5	1593261	1593261	+	lincRNA	SNP	A	A	T			TCGA-TT-A6YP-01A-21D-A35I-08	TCGA-TT-A6YP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5dbc0-ffda-4944-a0b0-babb48f5eae7	126f9367-4a45-464a-a3f6-7708d2f07961	g.chr5:1593261A>T	ENST00000605200.1	+	0	0				SDHAP3_ENST00000436493.2_RNA																							CTCAGGGCACATGCCTGACCA	0.542																																						ENST00000436493.2																			0																																																			728609							g.chr5:1593261A>T																													5.37:g.1593261A>T														0	364	-									RNA	SNP	ENST00000605200.1	37																																																																																						0.542	CTD-2012J19.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469651.1			4	26	0	0	0	1	0	4	26				
LOC101927209	101927209	broad.mit.edu	37	1	142713407	142713407	+	lincRNA	SNP	C	C	T	rs200984414		TCGA-TT-A6YP-01A-21D-A35I-08	TCGA-TT-A6YP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5dbc0-ffda-4944-a0b0-babb48f5eae7	126f9367-4a45-464a-a3f6-7708d2f07961	g.chr1:142713407C>T	ENST00000610091.1	-	0	2251																											CAGTAAGAAACTCATTCTTAT	0.318																																						ENST00000369381.2																			0																																																			101927209							g.chr1:142713407C>T																													1.37:g.142713407C>T														0	1198	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.318	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			3	16	0	0	0	1	0	3	16				
ANO2	57101	broad.mit.edu	37	12	5963272	5963272	+	Silent	SNP	G	G	A	rs373747618		TCGA-TT-A6YP-01A-21D-A35I-08	TCGA-TT-A6YP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5dbc0-ffda-4944-a0b0-babb48f5eae7	126f9367-4a45-464a-a3f6-7708d2f07961	g.chr12:5963272G>A	ENST00000356134.5	-	4	629	c.558C>T	c.(556-558)caC>caT	p.H186H	ANO2_ENST00000327087.8_Silent_p.H186H|ANO2_ENST00000546188.1_Silent_p.H186H	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2, calcium activated chloride channel	190					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GCCACGGGGCGTGTATCCGGA	0.468																																						ENST00000327087.8																			0				central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						c.(556-558)caC>caT		anoctamin 2		G		0,3804		0,0,1902	170.0	175.0	173.0		558	-0.3	1.0	12		173	2,8222		0,2,4110	no	coding-synonymous	ANO2	NM_020373.2		0,2,6012	AA,AG,GG		0.0243,0.0,0.0166		186/999	5963272	2,12026	1902	4112	6014	SO:0001819	synonymous_variant	57101					chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	g.chr12:5963272G>A	AJ272204	CCDS44807.1, CCDS44807.2	12p13.3	2014-04-09	2014-04-09	2008-08-28		ENSG00000047617		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	1183	protein-coding gene	gene with protein product	"""transmembrane protein 16B (eight membrane-spanning domains)"""	610109	"""chromosome 12 open reading frame 3"", ""transmembrane protein 16B"", ""anoctamin 2"""	C12orf3, TMEM16B		12739008, 15067359, 24692353	Standard	NM_001278596		Approved		uc001qnm.2	Q9NQ90		ENST00000356134.5:c.558C>T	12.37:g.5963272G>A						ANO2_ENST00000546188.1_Silent_p.H186H|ANO2_ENST00000356134.5_Silent_p.H186H	p.H186H			Q9NQ90	ANO2_HUMAN			4	629	-			190					C4N787|Q9H847	Silent	SNP	ENST00000356134.5	37	c.558C>T																																																																																					0.468	ANO2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399019.4	NM_020373		19	82	0	0	0	1	0	19	82				
PLPPR4	9890	broad.mit.edu	37	1	99772002	99772002	+	Silent	SNP	C	C	T			TCGA-TT-A6YP-01A-21D-A35I-08	TCGA-TT-A6YP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5dbc0-ffda-4944-a0b0-babb48f5eae7	126f9367-4a45-464a-a3f6-7708d2f07961	g.chr1:99772002C>T	ENST00000370185.3	+	7	2225	c.1728C>T	c.(1726-1728)atC>atT	p.I576I	LPPR4_ENST00000457765.1_Silent_p.I518I|LPPR4_ENST00000370184.1_Silent_p.I418I	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		576					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		AGCCCCGAATCATGCAAGTCA	0.547																																						ENST00000370185.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72						c.(1726-1728)atC>atT									59.0	60.0	59.0					1																	99772002		2203	4300	6503	SO:0001819	synonymous_variant	9890						phosphatidate phosphatase activity	g.chr1:99772002C>T																												ENST00000370185.3:c.1728C>T	1.37:g.99772002C>T						LPPR4_ENST00000457765.1_Silent_p.I518I|LPPR4_ENST00000370184.1_Silent_p.I418I	p.I576I	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	2225	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	576					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Silent	SNP	ENST00000370185.3	37	c.1728C>T	CCDS757.1																																																																																				0.547	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			6	35	0	0	0	1	0	6	35				
ADAMTS12	81792	broad.mit.edu	37	5	33577007	33577007	+	Missense_Mutation	SNP	T	T	C			TCGA-TT-A6YP-01A-21D-A35I-08	TCGA-TT-A6YP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5dbc0-ffda-4944-a0b0-babb48f5eae7	126f9367-4a45-464a-a3f6-7708d2f07961	g.chr5:33577007T>C	ENST00000504830.1	-	19	3459	c.3124A>G	c.(3124-3126)Agc>Ggc	p.S1042G	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.S957G|ADAMTS12_ENST00000504582.1_5'Flank	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1042	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GTGCTTGTGCTCATAGACTCA	0.537										HNSCC(64;0.19)																												ENST00000504830.1																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(3124-3126)Agc>Ggc		ADAM metallopeptidase with thrombospondin type 1 motif, 12							151.0	144.0	146.0					5																	33577007		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33577007T>C	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3124A>G	5.37:g.33577007T>C	ENSP00000422554:p.Ser1042Gly	HNSCC(64;0.19)				ADAMTS12_ENST00000352040.3_Missense_Mutation_p.S957G	p.S1042G	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			19	3459	-			1042			Spacer 2.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.3124A>G	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	T	4.543	0.100806	0.08731	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.59906	0.24;0.23	5.08	2.71	0.32032	.	0.820694	0.11549	N	0.553010	T	0.44603	0.1301	L	0.34521	1.04	0.09310	N	1	B;B	0.26147	0.143;0.088	B;B	0.30572	0.117;0.055	T	0.34030	-0.9845	10	0.22109	T	0.4	.	7.4007	0.26962	0.0:0.2449:0.0:0.7551	.	957;1042	P58397-3;P58397	.;ATS12_HUMAN	G	1042;957	ENSP00000422554:S1042G;ENSP00000344847:S957G	ENSP00000344847:S957G	S	-	1	0	ADAMTS12	33612764	0.004000	0.15560	0.003000	0.11579	0.019000	0.09904	1.361000	0.34136	0.420000	0.25954	0.533000	0.62120	AGC		0.537	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		3	38	0	0	0	1	0	3	38				
ASZ1	136991	broad.mit.edu	37	7	117025822	117025822	+	Missense_Mutation	SNP	T	T	C			TCGA-TT-A6YP-01A-21D-A35I-08	TCGA-TT-A6YP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5dbc0-ffda-4944-a0b0-babb48f5eae7	126f9367-4a45-464a-a3f6-7708d2f07961	g.chr7:117025822T>C	ENST00000284629.2	-	5	544	c.482A>G	c.(481-483)cAc>cGc	p.H161R		NM_130768.2	NP_570124.1			ankyrin repeat, SAM and basic leucine zipper domain containing 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			AACCTGGGTGTGACCATCTCG	0.408																																						ENST00000284629.2																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24						c.(481-483)cAc>cGc		ankyrin repeat, SAM and basic leucine zipper domain containing 1							111.0	107.0	108.0					7																	117025822		2203	4300	6503	SO:0001583	missense	136991				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity	g.chr7:117025822T>C	AF461259	CCDS5772.1	7q31.2	2013-01-10	2005-03-15	2004-07-16	ENSG00000154438	ENSG00000154438		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	1350	protein-coding gene	gene with protein product		605797	"""ankyrin-like 1"""	C7orf7, ANKL1		12040005, 11279520	Standard	NM_130768		Approved	Orf3, GASZ, ALP1, CT1.19	uc003vjb.2	Q8WWH4	OTTHUMG00000064565	ENST00000284629.2:c.482A>G	7.37:g.117025822T>C	ENSP00000284629:p.His161Arg						p.H161R	NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	STAD - Stomach adenocarcinoma(10;0.000512)		5	544	-	Lung NSC(10;0.00156)|all_lung(10;0.00175)		161						Missense_Mutation	SNP	ENST00000284629.2	37	c.482A>G	CCDS5772.1	.	.	.	.	.	.	.	.	.	.	T	17.29	3.353271	0.61293	.	.	ENSG00000154438	ENST00000284629	T	0.65732	-0.17	5.91	4.77	0.60923	Ankyrin repeat-containing domain (4);	0.162323	0.56097	D	0.000040	T	0.63498	0.2516	N	0.17082	0.46	0.40887	D	0.984042	D;D	0.89917	1.0;1.0	D;D	0.77004	0.989;0.989	T	0.65726	-0.6098	10	0.46703	T	0.11	2.5901	11.0341	0.47791	0.0:0.0736:0.0:0.9264	.	161;161	B7ZM20;Q8WWH4	.;ASZ1_HUMAN	R	161	ENSP00000284629:H161R	ENSP00000284629:H161R	H	-	2	0	ASZ1	116813058	1.000000	0.71417	0.998000	0.56505	0.941000	0.58515	4.173000	0.58249	1.071000	0.40834	-0.256000	0.11100	CAC		0.408	ASZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000138907.7	NM_130768		3	31	0	0	0	1	0	3	31				
OSBP	5007	broad.mit.edu	37	11	59382787	59382787	+	Silent	SNP	C	C	A			TCGA-TT-A6YP-01A-21D-A35I-08	TCGA-TT-A6YP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5dbc0-ffda-4944-a0b0-babb48f5eae7	126f9367-4a45-464a-a3f6-7708d2f07961	g.chr11:59382787C>A	ENST00000263847.1	-	1	830	c.351G>T	c.(349-351)ctG>ctT	p.L117L	AP000442.1_ENST00000531108.1_RNA	NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	117	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				lipid transport (GO:0006869)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	oxysterol binding (GO:0008142)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		TGTAGTAGCTCAGGAGCCCGT	0.617																																						ENST00000263847.1																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(349-351)ctG>ctT		oxysterol binding protein							31.0	28.0	29.0					11																	59382787		2201	4294	6495	SO:0001819	synonymous_variant	5007				lipid transport	Golgi membrane	oxysterol binding	g.chr11:59382787C>A	AF185696	CCDS7974.1	11q12-q13	2013-01-10			ENSG00000110048	ENSG00000110048		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8503	protein-coding gene	gene with protein product		167040					Standard	NM_002556		Approved	OSBP1	uc001noc.1	P22059	OTTHUMG00000167422	ENST00000263847.1:c.351G>T	11.37:g.59382787C>A							p.L117L	NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)	1	830	-		all_epithelial(135;0.000236)	117			PH.		Q6P524	Silent	SNP	ENST00000263847.1	37	c.351G>T	CCDS7974.1																																																																																				0.617	OSBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394555.1			3	9	1	0	0.004672	1	0.004672	3	9				
FBN3	84467	broad.mit.edu	37	19	8130917	8130917	+	Silent	SNP	G	G	C			TCGA-TT-A6YP-01A-21D-A35I-08	TCGA-TT-A6YP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5dbc0-ffda-4944-a0b0-babb48f5eae7	126f9367-4a45-464a-a3f6-7708d2f07961	g.chr19:8130917G>C	ENST00000600128.1	-	64	8730	c.8316C>G	c.(8314-8316)acC>acG	p.T2772T	FBN3_ENST00000270509.2_Silent_p.T2772T|FBN3_ENST00000601739.1_Silent_p.T2772T			Q75N90	FBN3_HUMAN	fibrillin 3	2772						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CCAGCCGGTAGGTTCCAGGCC	0.677																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(8314-8316)acC>acG		fibrillin 3							40.0	43.0	42.0					19																	8130917		2202	4299	6501	SO:0001819	synonymous_variant	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8130917G>C		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.8316C>G	19.37:g.8130917G>C						FBN3_ENST00000601739.1_Silent_p.T2772T|FBN3_ENST00000270509.2_Silent_p.T2772T	p.T2772T			Q75N90	FBN3_HUMAN			64	8730	-			2772					Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	ENST00000600128.1	37	c.8316C>G	CCDS12196.1																																																																																				0.677	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		10	45	0	0	0	1	0	10	45				
FBN3	84467	broad.mit.edu	37	19	8181576	8181576	+	Missense_Mutation	SNP	C	C	T			TCGA-TT-A6YP-01A-21D-A35I-08	TCGA-TT-A6YP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5dbc0-ffda-4944-a0b0-babb48f5eae7	126f9367-4a45-464a-a3f6-7708d2f07961	g.chr19:8181576C>T	ENST00000600128.1	-	29	4108	c.3694G>A	c.(3694-3696)Gac>Aac	p.D1232N	FBN3_ENST00000270509.2_Missense_Mutation_p.D1232N|FBN3_ENST00000601739.1_Missense_Mutation_p.D1232N			Q75N90	FBN3_HUMAN	fibrillin 3	1232	EGF-like 17. {ECO:0000255|PROSITE- ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GTCCTCATGTCTGGCGTGGCC	0.617																																						ENST00000600128.1																			0				NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						c.(3694-3696)Gac>Aac		fibrillin 3							75.0	68.0	70.0					19																	8181576		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8181576C>T		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.3694G>A	19.37:g.8181576C>T	ENSP00000470498:p.Asp1232Asn					FBN3_ENST00000601739.1_Missense_Mutation_p.D1232N|FBN3_ENST00000270509.2_Missense_Mutation_p.D1232N	p.D1232N			Q75N90	FBN3_HUMAN			29	4108	-			1232			EGF-like 17.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.3694G>A	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.891255	0.91889	.	.	ENSG00000142449	ENST00000270509	D	0.87887	-2.31	4.15	4.15	0.48705	EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	D	0.91466	0.7306	L	0.55481	1.735	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.91827	0.5472	10	0.51188	T	0.08	.	16.2013	0.82084	0.0:1.0:0.0:0.0	.	1232	Q75N90	FBN3_HUMAN	N	1232	ENSP00000270509:D1232N	ENSP00000270509:D1232N	D	-	1	0	FBN3	8087576	1.000000	0.71417	0.229000	0.23960	0.300000	0.27592	7.168000	0.77570	2.154000	0.67381	0.448000	0.29417	GAC		0.617	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		15	26	0	0	0	1	0	15	26				
ZNF493	284443	broad.mit.edu	37	19	21607388	21607388	+	Missense_Mutation	SNP	C	C	G			TCGA-TT-A6YP-01A-21D-A35I-08	TCGA-TT-A6YP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5dbc0-ffda-4944-a0b0-babb48f5eae7	126f9367-4a45-464a-a3f6-7708d2f07961	g.chr19:21607388C>G	ENST00000355504.4	+	2	1809	c.1543C>G	c.(1543-1545)Cac>Gac	p.H515D	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000392288.2_Missense_Mutation_p.H643D	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	515					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						GCGGTCCTCACACCTCGCTGG	0.368																																						ENST00000392288.2																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						c.(1927-1929)Cac>Gac		zinc finger protein 493							43.0	48.0	47.0					19																	21607388		2198	4293	6491	SO:0001583	missense	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21607388C>G	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.1543C>G	19.37:g.21607388C>G	ENSP00000347691:p.His515Asp					CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.H515D	p.H643D	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN			4	2036	+			515					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	c.1927C>G	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	0	-2.699538	0.00097	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.13089	2.62;2.62	0.361	-0.721	0.11189	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07007	0.0178	N	0.13352	0.335	0.09310	N	0.999999	B;B	0.22541	0.01;0.071	B;B	0.19946	0.022;0.027	T	0.39742	-0.9599	9	0.22706	T	0.39	.	6.9525	0.24552	0.4759:0.5241:0.0:0.0	.	515;643	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	D	643;515	ENSP00000376110:H643D;ENSP00000347691:H515D	ENSP00000347691:H515D	H	+	1	0	ZNF493	21399228	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.536000	0.00219	-2.190000	0.00757	-2.240000	0.00288	CAC		0.368	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		3	36	0	0	0	1	0	3	36				
ZNF334	55713	broad.mit.edu	37	20	45130892	45130892	+	Silent	SNP	C	C	T	rs140945220		TCGA-TT-A6YP-01A-21D-A35I-08	TCGA-TT-A6YP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5dbc0-ffda-4944-a0b0-babb48f5eae7	126f9367-4a45-464a-a3f6-7708d2f07961	g.chr20:45130892C>T	ENST00000347606.4	-	5	1268	c.1086G>A	c.(1084-1086)tcG>tcA	p.S362S	ZNF334_ENST00000457685.2_Silent_p.S324S|ZNF334_ENST00000593880.1_Silent_p.S385S	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	362					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CAACAAGATACGATTTCTTGC	0.458																																						ENST00000457685.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32						c.(970-972)tcG>tcA		zinc finger protein 334		C	,	6,4400	11.4+/-27.6	0,6,2197	193.0	192.0	192.0		1086,972	-6.6	0.0	20	dbSNP_134	192	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous	ZNF334	NM_018102.3,NM_199441.1	,	0,10,6493	TT,TC,CC		0.0465,0.1362,0.0769	,	362/681,324/643	45130892	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	55713				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:45130892C>T	AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"""Zinc fingers, C2H2-type"", ""-"""	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.1086G>A	20.37:g.45130892C>T						ZNF334_ENST00000347606.4_Silent_p.S362S|ZNF334_ENST00000593880.1_Silent_p.S385S	p.S324S			Q9HCZ1	ZN334_HUMAN			6	2295	-		Myeloproliferative disorder(115;0.0122)	362					Q5T6U2|Q9NVW4	Silent	SNP	ENST00000347606.4	37	c.972G>A	CCDS33480.1																																																																																				0.458	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079575.1			4	127	0	0	0	1	0	4	127				
PAXIP1	22976	broad.mit.edu	37	7	154767578	154767578	+	Missense_Mutation	SNP	C	C	T			TCGA-TT-A6YP-01A-21D-A35I-08	TCGA-TT-A6YP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5dbc0-ffda-4944-a0b0-babb48f5eae7	126f9367-4a45-464a-a3f6-7708d2f07961	g.chr7:154767578C>T	ENST00000404141.1	-	6	1056	c.902G>A	c.(901-903)gGt>gAt	p.G301D	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Missense_Mutation_p.G301D			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	301					adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		CAAAATGTTACCTGGGACGGG	0.527																																						ENST00000404141.1																			0				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33						c.(901-903)gGt>gAt		PAX interacting (with transcription-activation domain) protein 1							61.0	57.0	58.0					7																	154767578		1860	4103	5963	SO:0001583	missense	22976				DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix		g.chr7:154767578C>T	U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"""PAX transcription activation domain interacting protein 1 like"""	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.902G>A	7.37:g.154767578C>T	ENSP00000384048:p.Gly301Asp					PAXIP1_ENST00000397192.1_Missense_Mutation_p.G301D|PAXIP1_ENST00000473219.1_5'UTR	p.G301D			Q6ZW49	PAXI1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)	6	1056	-	all_neural(206;0.119)	all_hematologic(28;0.0592)	301					O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Missense_Mutation	SNP	ENST00000404141.1	37	c.902G>A	CCDS47753.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.476070	0.84640	.	.	ENSG00000157212	ENST00000404141;ENST00000397192;ENST00000357094;ENST00000323199	T;T	0.56444	0.46;0.46	5.04	5.04	0.67666	.	0.102357	0.40908	U	0.000997	T	0.71762	0.3378	M	0.66939	2.045	0.52099	D	0.999941	D;D;D;D	0.89917	0.976;1.0;0.994;1.0	P;D;P;D	0.81914	0.661;0.995;0.817;0.983	T	0.73672	-0.3909	10	0.56958	D	0.05	-26.6964	18.7519	0.91819	0.0:1.0:0.0:0.0	.	254;210;267;301	B4DEQ6;Q6ZW49-3;Q6ZW49-1;Q6ZW49	.;.;.;PAXI1_HUMAN	D	301;301;249;254	ENSP00000384048:G301D;ENSP00000380376:G301D	ENSP00000319149:G254D	G	-	2	0	PAXIP1	154398511	1.000000	0.71417	0.527000	0.27925	0.859000	0.49053	6.596000	0.74113	2.495000	0.84180	0.305000	0.20034	GGT		0.527	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322223.1	NM_007349		4	18	0	0	0	1	0	4	18				
KCNN2	3781	broad.mit.edu	37	5	113698631	113698632	+	In_Frame_Ins	INS	-	-	GCC	rs151038013|rs111266015|rs76852708|rs34641516		TCGA-TT-A6YP-01A-21D-A35I-08	TCGA-TT-A6YP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5dbc0-ffda-4944-a0b0-babb48f5eae7	126f9367-4a45-464a-a3f6-7708d2f07961	g.chr5:113698631_113698632insGCC	ENST00000512097.3	+	2	1177_1178	c.159_160insGCC	c.(160-162)gcc>GCCgcc	p.54_54A>AA	KCNN2_ENST00000264773.3_In_Frame_Ins_p.54_54A>AA			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	54	Poly-Ala.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	CTGCAGCCGCTGCCGCCGCCGC	0.703																																						ENST00000512097.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(157-162)gcccgc>gcGCCccgc		potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2				1003,2377		300,403,987						-5.9	0.0		dbSNP_126	7	2590,4184		804,982,1601	no	coding	KCNN2	NM_021614.2		1104,1385,2588	A1A1,A1R,RR		38.2344,29.6746,35.3851				3593,6561				SO:0001652	inframe_insertion	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113698631_113698632insGCC	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.169_171dupGCC	5.37:g.113698638_113698640dupGCC	ENSP00000427120:p.Ala58dup					KCNN2_ENST00000264773.3_In_Frame_Ins_p.53_54AR>APR	p.53_54AR>APR			Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	2	1177_1178	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	53			Poly-Ala.		A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	In_Frame_Ins	INS	ENST00000512097.3	37	c.159_160insGCC	CCDS4114.1																																																																																				0.703	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		4	8						4	8	---	---	---	---
SUDS3P1	285647	broad.mit.edu	37	5	177398373	177398396	+	RNA	DEL	AGGACGAAGAGCTGGAGAGCGCCA	AGGACGAAGAGCTGGAGAGCGCCA	-	rs548039666|rs70994948|rs71585660|rs568597025|rs535774316	byFrequency	TCGA-TT-A6YP-01A-21D-A35I-08	TCGA-TT-A6YP-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fc5dbc0-ffda-4944-a0b0-babb48f5eae7	126f9367-4a45-464a-a3f6-7708d2f07961	g.chr5:177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA	ENST00000511650.1	+	0	145																											GTCCCCGGGGAGGACGAAGAGCTGGAGAGCGCCAAGGACGACGA	0.683														1220	0.24361	0.2678	0.3372	5008	,	,		15351	0.1548		0.2674	False		,,,				2504	0.2117					ENST00000511650.1																			0																																																			285647							g.chr5:177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA																													5.37:g.177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA														0	145	+									RNA	DEL	ENST00000511650.1	37																																																																																						0.683	RP11-1252I4.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000373553.1			5	5						5	5	---	---	---	---
