#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
C2orf42	54980	broad.mit.edu	37	2	70402827	70402827	+	Silent	SNP	A	A	C			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr2:70402827A>C	ENST00000264434.2	-	5	1396	c.1017T>G	c.(1015-1017)gtT>gtG	p.V339V	C2orf42_ENST00000420306.1_Silent_p.V339V	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	339										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						ACGAGGAAGCAACCACAGGCT	0.438																																						uc002sgh.3																			0				endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						c.(1015-1017)gtT>gtG		Homo sapiens chromosome 2 open reading frame 42 (C2orf42), mRNA.							217.0	215.0	216.0					2																	70402827		2203	4300	6503	SO:0001819	synonymous_variant	54980							g.chr2:70402827A>C	AK000565	CCDS1899.1	2p14	2011-03-08			ENSG00000115998	ENSG00000115998			26056	protein-coding gene	gene with protein product						12477932	Standard	XM_005264389		Approved	FLJ20558	uc002sgh.3	Q9NWW7	OTTHUMG00000129642	ENST00000264434.2:c.1017T>G	2.37:g.70402827A>C							p.V339V	NM_017880	NP_060350	Q9NWW7	CB042_HUMAN			4	1345	-			339					D6W5G3|Q9H629	Silent	SNP	ENST00000264434.2	37	c.1017T>G	CCDS1899.1																																																																																				0.438	C2orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251840.1	NM_017880		7	363	0	0	0	1	0	7	363				
SHROOM2	357	broad.mit.edu	37	X	9841718	9841718	+	Silent	SNP	G	G	A	rs139542964		TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chrX:9841718G>A	ENST00000380913.3	+	2	282	c.192G>A	c.(190-192)gcG>gcA	p.A64A	Y_RNA_ENST00000384117.1_RNA	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	64	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				AAGCCGCGGCGGTCGACAAGT	0.537											OREG0019659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000264901	0.0008	0.0	3775	,	,		14710	0.0		0.0	False		,,,				2504	0.0					uc004csu.1																			0		p.A63T(1)		breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57						c.(190-192)gcG>gcA		Homo sapiens shroom family member 2 (SHROOM2), mRNA.		G		1,3834		0,1,1631,571	98.0	87.0	90.0		192	-10.5	0.0	X	dbSNP_134	90	0,6728		0,0,2428,1872	no	coding-synonymous	SHROOM2	NM_001649.2		0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095		64/1617	9841718	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	357				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	g.chrX:9841718G>A	X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.192G>A	X.37:g.9841718G>A			OREG0019659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	660		p.A64A	NM_001649	NP_001640	Q13796	SHRM2_HUMAN			1	282	+		Hepatocellular(5;0.000888)	64			PDZ.		B9EIQ7	Silent	SNP	ENST00000380913.3	37	c.192G>A	CCDS14135.1																																																																																				0.537	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		6	134	0	0	0	1	0	6	134				
KIAA0513	9764	broad.mit.edu	37	16	85100875	85100875	+	Missense_Mutation	SNP	G	G	C			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr16:85100875G>C	ENST00000566428.1	+	2	829	c.198G>C	c.(196-198)tgG>tgC	p.W66C	KIAA0513_ENST00000258180.3_Missense_Mutation_p.W66C|KIAA0513_ENST00000538274.1_Missense_Mutation_p.W66C|KIAA0513_ENST00000567328.1_Missense_Mutation_p.W66C			O60268	K0513_HUMAN	KIAA0513	66						cytoplasm (GO:0005737)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		ACCCGTCCTGGGACCAAGACC	0.617																																						uc002fiu.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18						c.(196-198)tgG>tgC		Homo sapiens KIAA0513 (KIAA0513), mRNA.							66.0	51.0	56.0					16																	85100875		2199	4300	6499	SO:0001583	missense	9764					cytoplasm		g.chr16:85100875G>C	AB011085	CCDS32499.1, CCDS67091.1, CCDS73919.1	16q24.1	2012-11-29			ENSG00000135709	ENSG00000135709			29058	protein-coding gene	gene with protein product		611675				9628581	Standard	XM_005256265		Approved		uc002fiu.3	O60268	OTTHUMG00000176597	ENST00000566428.1:c.198G>C	16.37:g.85100875G>C	ENSP00000457408:p.Trp66Cys					KIAA0513_uc010voj.2_Missense_Mutation_p.W66C|KIAA0513_uc002fit.3_Missense_Mutation_p.W66C	p.W66C	NM_014732	NP_055547	O60268	K0513_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.234)	1	418	+			66					B4DSS5|D3DUM2|Q8N6G0	Missense_Mutation	SNP	ENST00000566428.1	37	c.198G>C	CCDS32499.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.237546	0.58886	.	.	ENSG00000135709	ENST00000538274;ENST00000258180	T;T	0.35789	1.29;1.29	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.59959	0.2232	M	0.72894	2.215	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.65500	-0.6153	10	0.87932	D	0	-18.6828	16.2567	0.82522	0.0:0.0:1.0:0.0	.	66;66	B4DSS5;O60268	.;K0513_HUMAN	C	66	ENSP00000446439:W66C;ENSP00000258180:W66C	ENSP00000258180:W66C	W	+	3	0	KIAA0513	83658376	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.597000	0.67577	2.234000	0.73211	0.561000	0.74099	TGG		0.617	KIAA0513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432736.1	NM_014732		5	69	0	0	0	1	0	5	69				
VDAC3	7419	broad.mit.edu	37	8	42259489	42259489	+	Silent	SNP	C	C	T			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr8:42259489C>T	ENST00000022615.4	+	7	575	c.507C>T	c.(505-507)ttC>ttT	p.F169F	VDAC3_ENST00000392935.3_Silent_p.F170F|VDAC3_ENST00000522572.1_Intron|VDAC3_ENST00000521158.1_Silent_p.F170F			Q9Y277	VDAC3_HUMAN	voltage-dependent anion channel 3	169					adenine transport (GO:0015853)	extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	nucleotide binding (GO:0000166)|porin activity (GO:0015288)|voltage-gated anion channel activity (GO:0008308)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		Dihydroxyaluminium(DB01375)	AGAATAATTTCGCCCTGGGTT	0.463																																						uc022aul.1																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						c.(508-510)ttC>ttT		Homo sapiens voltage-dependent anion channel 3 (VDAC3), transcript variant 2, mRNA.	Dihydroxyaluminium(DB01375)						73.0	71.0	71.0					8																	42259489		2203	4300	6503	SO:0001819	synonymous_variant	7419				adenine transport	mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity	g.chr8:42259489C>T	AF038962	CCDS6131.1, CCDS47850.1	8p11.21	2011-11-15			ENSG00000078668	ENSG00000078668		"""Voltage-dependent anion channels"""	12674	protein-coding gene	gene with protein product		610029				9653160, 9781040	Standard	NM_001135694		Approved	HD-VDAC3	uc003xpc.3	Q9Y277	OTTHUMG00000164168	ENST00000022615.4:c.507C>T	8.37:g.42259489C>T						VDAC3_uc010lxk.3_3'UTR|VDAC3_uc003xpc.3_Silent_p.F169F|VDAC3_uc011lct.2_Silent_p.F169F	p.F170F	NM_001135694	NP_001129166	Q9Y277	VDAC3_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		5	512	+	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	169					Q9UIS0	Silent	SNP	ENST00000022615.4	37	c.510C>T	CCDS6131.1																																																																																				0.463	VDAC3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377574.1			4	77	0	0	0	1	0	4	77				
PTPRZ1	5803	broad.mit.edu	37	7	121652207	121652207	+	Missense_Mutation	SNP	A	A	G			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr7:121652207A>G	ENST00000393386.2	+	12	3518	c.3107A>G	c.(3106-3108)gAt>gGt	p.D1036G	PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1036					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GTGTTTGGTGATGATAATAAG	0.363																																						uc003vjy.3																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(3106-3108)gAt>gGt		Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.							88.0	90.0	89.0					7																	121652207		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121652207A>G	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.3107A>G	7.37:g.121652207A>G	ENSP00000377047:p.Asp1036Gly					PTPRZ1_uc011knt.2_Intron|PTPRZ1_uc003vjz.3_Intron	p.D1036G	NM_002851	NP_002842	P23471	PTPRZ_HUMAN			11	3502	+			1036					A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.3107A>G	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	A	9.171	1.021190	0.19433	.	.	ENSG00000106278	ENST00000393386	T	0.54071	0.59	5.41	3.03	0.35002	.	0.237120	0.37095	N	0.002257	T	0.45013	0.1321	M	0.67953	2.075	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.34700	-0.9818	10	0.44086	T	0.13	.	4.319	0.11007	0.6408:0.0:0.2229:0.1363	.	1036	P23471	PTPRZ_HUMAN	G	1036	ENSP00000377047:D1036G	ENSP00000377047:D1036G	D	+	2	0	PTPRZ1	121439443	1.000000	0.71417	0.867000	0.34043	0.996000	0.88848	3.245000	0.51407	0.361000	0.24292	0.528000	0.53228	GAT		0.363	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		4	120	0	0	0	1	0	4	120				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333	NP_004324	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		18	113	0	0	0	1	0	18	113				
ASH1L	55870	broad.mit.edu	37	1	155491013	155491013	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr1:155491013G>A	ENST00000368346.3	-	2	937	c.298C>T	c.(298-300)Cca>Tca	p.P100S	ASH1L_ENST00000392403.3_Missense_Mutation_p.P100S|ASH1L_ENST00000548830.1_Missense_Mutation_p.P100S			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	100					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AAGTTCTTTGGAGGTTTTTTA	0.373																																						uc009wqq.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(298-300)Cca>Tca		Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.							165.0	169.0	168.0					1																	155491013		2202	4300	6502	SO:0001583	missense	55870				DNA packaging|cell-cell signaling|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|chromosome|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155491013G>A	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.298C>T	1.37:g.155491013G>A	ENSP00000357330:p.Pro100Ser					ASH1L_uc001fkt.3_Missense_Mutation_p.P100S|ASH1L_uc009wqr.1_Missense_Mutation_p.P100S	p.P100S	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		1	778	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		100					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.298C>T		.	.	.	.	.	.	.	.	.	.	G	23.1	4.369528	0.82463	.	.	ENSG00000116539	ENST00000368346;ENST00000392403;ENST00000548830	D;D	0.98437	-4.93;-4.93	5.89	4.97	0.65823	.	0.168795	0.41605	D	0.000846	D	0.93510	0.7929	L	0.27053	0.805	0.58432	D	0.999998	B;B	0.09022	0.001;0.002	B;B	0.12156	0.003;0.007	D	0.91257	0.5034	10	0.87932	D	0	.	14.436	0.67282	0.071:0.0:0.929:0.0	.	100;100	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	S	100	ENSP00000357330:P100S;ENSP00000376204:P100S	ENSP00000357330:P100S	P	-	1	0	ASH1L	153757637	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.926000	0.92839	1.489000	0.48450	0.557000	0.71058	CCA		0.373	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		6	220	0	0	0	1	0	6	220				
MDGA2	161357	broad.mit.edu	37	14	47426730	47426730	+	Missense_Mutation	SNP	G	G	C			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr14:47426730G>C	ENST00000399232.2	-	9	2093	c.1729C>G	c.(1729-1731)Cgc>Ggc	p.R577G	MDGA2_ENST00000439988.3_Missense_Mutation_p.R646G|MDGA2_ENST00000357362.3_Missense_Mutation_p.R348G|SNORA25_ENST00000515926.1_RNA|MDGA2_ENST00000426342.1_Missense_Mutation_p.R348G	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	577	Ig-like 6.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TTGCCCAAGCGCCACTCATAG	0.453																																						uc001wwj.4																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						c.(1936-1938)Cgc>Ggc		Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 2 (MDGA2), transcript variant 1, mRNA.							94.0	95.0	95.0					14																	47426730		1976	4158	6134	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47426730G>C	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1729C>G	14.37:g.47426730G>C	ENSP00000382178:p.Arg577Gly					MDGA2_uc001wwi.4_Missense_Mutation_p.R348G|MDGA2_uc010ani.3_Missense_Mutation_p.R137G|SNORA25_uc021rsl.1_5'Flank	p.R646G	NM_001113498	NP_878250	Q7Z553	MDGA2_HUMAN			8	2094	-			577					F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.1936C>G		.	.	.	.	.	.	.	.	.	.	G	17.09	3.301563	0.60195	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.13420	2.59;2.59;2.59;2.59	5.54	4.62	0.57501	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.50627	U	0.000105	T	0.22513	0.0543	L	0.40543	1.245	0.80722	D	1	P;P	0.38300	0.626;0.54	P;P	0.50659	0.515;0.647	T	0.00807	-1.1558	10	0.54805	T	0.06	.	14.5333	0.67942	0.0:0.0:0.8532:0.1468	.	348;577	F6W3S7;Q7Z553	.;MDGA2_HUMAN	G	577;348;646;348	ENSP00000400011:R577G;ENSP00000405456:R348G;ENSP00000382178:R646G;ENSP00000349925:R348G	ENSP00000349925:R348G	R	-	1	0	MDGA2	46496480	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.186000	0.50942	2.606000	0.88127	0.650000	0.86243	CGC		0.453	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		5	125	0	0	0	1	0	5	125				
MAMLD1	10046	broad.mit.edu	37	X	149631107	149631107	+	Missense_Mutation	SNP	C	C	T	rs372258309		TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chrX:149631107C>T	ENST00000370401.2	+	3	476	c.166C>T	c.(166-168)Cat>Tat	p.H56Y	MAMLD1_ENST00000468306.1_Intron|MAMLD1_ENST00000426613.2_Intron|MAMLD1_ENST00000262858.5_Missense_Mutation_p.H56Y|MAMLD1_ENST00000432680.2_Intron			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	56					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AGGAAGAAAGCATCAGGTAAG	0.517																																						uc004fee.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(166-168)Cat>Tat		Homo sapiens mastermind-like domain containing 1 (MAMLD1), transcript variant 2, mRNA.		C	,,TYR/HIS	2,3224		0,1,1,1327,569	50.0	50.0	50.0		,,166	-0.3	0.0	X		50	0,6449		0,0,0,2334,1781	no	intron,intron,missense	MAMLD1	NM_001177465.1,NM_001177466.1,NM_005491.3	,,83	0,1,1,3661,2350	TT,TC,T,CC,C		0.0,0.062,0.0207	,,	,,56/775	149631107	2,9673	1898	4115	6013	SO:0001583	missense	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149631107C>T	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.166C>T	X.37:g.149631107C>T	ENSP00000359428:p.His56Tyr					MAMLD1_uc011mxt.1_Missense_Mutation_p.H18Y|MAMLD1_uc011mxu.2_Intron|MAMLD1_uc011mxv.2_Intron	p.H56Y	NM_005491	NP_005482	Q13495	MAMD1_HUMAN			1	229	+	Acute lymphoblastic leukemia(192;6.56e-05)		56					B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	c.166C>T	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	C	1.964	-0.438085	0.04636	6.2E-4	0.0	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000358892;ENST00000262858	T;T	0.57907	0.37;0.37	0.938	-0.266	0.12942	.	0.258711	0.18519	U	0.138824	T	0.24005	0.0581	N	0.08118	0	0.09310	N	1	B	0.30973	0.302	B	0.27887	0.084	T	0.10590	-1.0623	10	0.52906	T	0.07	.	2.9482	0.05853	0.0:0.5283:0.0:0.4717	.	56	Q13495	MAMD1_HUMAN	Y	18;56;56;56	ENSP00000359428:H56Y;ENSP00000262858:H56Y	ENSP00000262858:H56Y	H	+	1	0	MAMLD1	149381765	0.070000	0.21116	0.006000	0.13384	0.013000	0.08279	0.113000	0.15499	-0.147000	0.11254	0.468000	0.43344	CAT		0.517	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		9	61	0	0	0	1	0	9	61				
CDC23	8697	broad.mit.edu	37	5	137524750	137524750	+	Missense_Mutation	SNP	A	A	G			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr5:137524750A>G	ENST00000394886.2	-	16	1741	c.1711T>C	c.(1711-1713)Ttt>Ctt	p.F571L		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	571					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of exit from mitosis (GO:0007096)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGTAGGAAAAAGGGAGCAGGC	0.532																																						uc003lcl.3																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23						c.(1711-1713)Ttt>Ctt		Homo sapiens cell division cycle 23 homolog (S. cerevisiae) (CDC23), mRNA.							204.0	185.0	191.0					5																	137524750		2203	4300	6503	SO:0001583	missense	8697				G1 phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity	g.chr5:137524750A>G	AF053977	CCDS4200.2	5q31	2013-01-17	2013-01-17		ENSG00000094880	ENSG00000094880		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1724	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 8"""	603462	"""CDC23 (cell division cycle 23, yeast, homolog)"", ""cell division cycle 23 homolog (S. cerevisiae)"""			9790767	Standard	NM_004661		Approved	APC8, ANAPC8, CUT23	uc003lcl.3	Q9UJX2	OTTHUMG00000129198	ENST00000394886.2:c.1711T>C	5.37:g.137524750A>G	ENSP00000378350:p.Phe571Leu						p.F571L	NM_004661	NP_004652	Q9UJX2	CDC23_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		15	1742	-			571					A8K6E5|B4E3A2|B7WP05|D3DQB7|O75433|Q53FN2|Q9BS73	Missense_Mutation	SNP	ENST00000394886.2	37	c.1711T>C	CCDS4200.2	.	.	.	.	.	.	.	.	.	.	A	7.213	0.595865	0.13875	.	.	ENSG00000094880	ENST00000394886	T	0.40225	1.04	5.29	5.29	0.74685	.	0.117044	0.64402	D	0.000014	T	0.16085	0.0387	N	0.00926	-1.1	0.80722	D	1	B	0.14012	0.009	B	0.09377	0.004	T	0.18053	-1.0349	10	0.10111	T	0.7	-20.9996	15.3818	0.74664	1.0:0.0:0.0:0.0	.	571	Q9UJX2	CDC23_HUMAN	L	571	ENSP00000378350:F571L	ENSP00000378350:F571L	F	-	1	0	CDC23	137552649	1.000000	0.71417	0.996000	0.52242	0.358000	0.29455	4.545000	0.60698	2.225000	0.72522	0.379000	0.24179	TTT		0.532	CDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251275.2			3	100	0	0	0	1	0	3	100				
GALNT10	55568	broad.mit.edu	37	5	153789197	153789197	+	Missense_Mutation	SNP	G	G	A	rs369435277		TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr5:153789197G>A	ENST00000297107.6	+	9	1398	c.1261G>A	c.(1261-1263)Gca>Aca	p.A421T	SAP30L-AS1_ENST00000524264.1_RNA|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377661.2_Missense_Mutation_p.A359T|GALNT10_ENST00000377657.3_Missense_Mutation_p.A94T	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	421					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			tggggatgtcgcagtccagaa	0.542																																						uc003lvh.3																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(1261-1263)Gca>Aca		Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10) (GALNT10), mRNA.		G	THR/ALA	0,4406		0,0,2203	99.0	106.0	104.0		1261	-2.3	0.0	5		104	1,8599	1.2+/-3.3	0,1,4299	no	missense	GALNT10	NM_198321.3	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	421/604	153789197	1,13005	2203	4300	6503	SO:0001583	missense	55568					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr5:153789197G>A	AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19873	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 10"""	608043	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"""			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.1261G>A	5.37:g.153789197G>A	ENSP00000297107:p.Ala421Thr					GALNT10_uc010jic.3_Non-coding_Transcript|GALNT10_uc010jid.3_Missense_Mutation_p.A262T|FLJ38109_uc003lvi.3_Intron	p.A421T	NM_198321	NP_938080	Q86SR1	GLT10_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		8	1393	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	421					B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Missense_Mutation	SNP	ENST00000297107.6	37	c.1261G>A	CCDS4325.1	.	.	.	.	.	.	.	.	.	.	G	0.097	-1.158273	0.01686	0.0	1.16E-4	ENSG00000164574	ENST00000297107;ENST00000377661;ENST00000377657	T;T;T	0.63744	-0.06;-0.06;1.54	5.08	-2.35	0.06684	.	0.571807	0.20093	N	0.099400	T	0.22936	0.0554	N	0.01081	-1.03	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.26189	-1.0110	10	0.21014	T	0.42	.	5.5526	0.17099	0.2971:0.0:0.489:0.2139	.	359;92;421	Q86SR1-2;D6R8Y1;Q86SR1	.;.;GLT10_HUMAN	T	421;359;94	ENSP00000297107:A421T;ENSP00000366889:A359T;ENSP00000366885:A94T	ENSP00000297107:A421T	A	+	1	0	GALNT10	153769390	0.003000	0.15002	0.000000	0.03702	0.163000	0.22366	0.646000	0.24797	-0.385000	0.07833	-0.254000	0.11334	GCA		0.542	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321		5	192	0	0	0	1	0	5	192				
KHDC3L	154288	broad.mit.edu	37	6	74073506	74073506	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr6:74073506C>T	ENST00000370367.3	+	3	630	c.577C>T	c.(577-579)Cga>Tga	p.R193*		NM_001017361.2	NP_001017361.1	Q587J8	KHD3L_HUMAN	KH domain containing 3-like, subcortical maternal complex member	193							RNA binding (GO:0003723)										GGGGACCCAGCGATCCCCCGA	0.642																																						uc003pgt.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|stomach(1)	19						c.(577-579)Cga>Tga		Homo sapiens chromosome 6 open reading frame 221 (C6orf221), mRNA.							33.0	35.0	34.0					6																	74073506		2203	4300	6503	SO:0001587	stop_gained	154288							g.chr6:74073506C>T	AB211062	CCDS34484.1	6q13	2012-06-25	2012-06-25	2012-06-25	ENSG00000203908	ENSG00000203908			33699	protein-coding gene	gene with protein product	"""ES cell associated transcript 1"""	611687	"""chromosome 6 open reading frame 221"""	C6orf221		21885028	Standard	NM_001017361		Approved	ECAT1	uc003pgt.4	Q587J8	OTTHUMG00000015024	ENST00000370367.3:c.577C>T	6.37:g.74073506C>T	ENSP00000359392:p.Arg193*						p.R193*	NM_001017361	NP_001017361	Q587J8	ECAT1_HUMAN			2	630	+			193					B2RNW7	Nonsense_Mutation	SNP	ENST00000370367.3	37	c.577C>T	CCDS34484.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.968332	0.34754	.	.	ENSG00000203908	ENST00000370367	.	.	.	2.24	-0.834	0.10779	.	2.469680	0.01938	N	0.041696	.	.	.	.	.	.	0.43536	D	0.995827	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	1.1331	0.01749	0.2266:0.4045:0.2222:0.1467	.	.	.	.	X	193	.	ENSP00000359392:R193X	R	+	1	2	C6orf221	74130227	0.001000	0.12720	0.001000	0.08648	0.008000	0.06430	-1.035000	0.03564	-0.217000	0.10033	-0.229000	0.12294	CGA		0.642	KHDC3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041202.3	NM_001017361		4	74	0	0	0	1	0	4	74				
ZNF610	162963	broad.mit.edu	37	19	52869879	52869879	+	Silent	SNP	C	C	A	rs139676524		TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr19:52869879C>A	ENST00000403906.3	+	6	1704	c.1248C>A	c.(1246-1248)acC>acA	p.T416T	ZNF610_ENST00000327920.8_Silent_p.T416T|ZNF610_ENST00000321287.8_Silent_p.T416T|ZNF610_ENST00000601151.1_Silent_p.T373T	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	416					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		TATACCTAACCAACCATCAGA	0.423																																						uc002pyx.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34						c.(1246-1248)acC>acA		Homo sapiens zinc finger protein 610 (ZNF610), transcript variant 2, mRNA.							61.0	58.0	59.0					19																	52869879		2203	4300	6503	SO:0001819	synonymous_variant	162963				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52869879C>A	AK093359	CCDS12851.1, CCDS54309.1	19q13.41	2013-01-08			ENSG00000167554	ENSG00000167554		"""Zinc fingers, C2H2-type"", ""-"""	26687	protein-coding gene	gene with protein product						12477932	Standard	NM_001161425		Approved	FLJ36040	uc002pyx.4	Q8N9Z0		ENST00000403906.3:c.1248C>A	19.37:g.52869879C>A						ZNF610_uc002pyy.4_Silent_p.T416T|ZNF610_uc002pyz.4_Silent_p.T373T|ZNF610_uc002pza.3_Silent_p.T416T	p.T416T	NM_001161426	NP_775801	Q8N9Z0	ZN610_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)	5	1654	+			416					A8K4C3|Q86YH8|Q8NDS9	Silent	SNP	ENST00000403906.3	37	c.1248C>A	CCDS12851.1																																																																																				0.423	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462880.1	NM_173530		3	86	0	0	0	1	0	3	86				
THSD7B	80731	broad.mit.edu	37	2	138414527	138414527	+	Missense_Mutation	SNP	C	C	T			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr2:138414527C>T	ENST00000409968.1	+	23	4445	c.4267C>T	c.(4267-4269)Cgc>Tgc	p.R1423C	THSD7B_ENST00000272643.3_Missense_Mutation_p.R1426C|THSD7B_ENST00000413152.2_Missense_Mutation_p.R1395C|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1425	TSP type-1 18. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TCTAGAAACACGCCCTTGTAC	0.408																																						uc002tva.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(4177-4179)Cgc>Tgc		Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.							128.0	128.0	128.0					2																	138414527		1845	4096	5941	SO:0001583	missense	80731							g.chr2:138414527C>T			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.4267C>T	2.37:g.138414527C>T	ENSP00000387145:p.Arg1423Cys					THSD7B_uc010zbj.1_Intron	p.R1393C	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	21	4177	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.4177C>T		.	.	.	.	.	.	.	.	.	.	C	22.0	4.237263	0.79800	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.56611	0.45;0.45;0.45	6.17	5.25	0.73442	.	0.106913	0.64402	D	0.000007	T	0.71634	0.3363	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.73427	-0.3986	10	0.87932	D	0	.	16.4205	0.83757	0.132:0.868:0.0:0.0	.	1395	C9JKN6	.	C	1423;1426;1395	ENSP00000387145:R1423C;ENSP00000272643:R1426C;ENSP00000413841:R1395C	ENSP00000272643:R1426C	R	+	1	0	THSD7B	138130997	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.200000	0.42724	2.941000	0.99782	0.655000	0.94253	CGC		0.408	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		23	215	0	0	0	1	0	23	215				
SLC2A14	144195	broad.mit.edu	37	12	7984255	7984255	+	Missense_Mutation	SNP	C	C	T			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr12:7984255C>T	ENST00000543909.1	-	9	1045	c.286G>A	c.(286-288)Gtc>Atc	p.V96I	SLC2A14_ENST00000340749.5_Missense_Mutation_p.V73I|SLC2A14_ENST00000542546.1_Intron|SLC2A14_ENST00000396589.2_Missense_Mutation_p.V96I|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000535295.1_Intron|SLC2A14_ENST00000539924.1_Missense_Mutation_p.V111I|SLC2A14_ENST00000431042.2_Missense_Mutation_p.V73I			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	96					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		ATACCCCCGACGGAAAATATG	0.493											OREG0021654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc010sgh.2																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38						c.(331-333)Gtc>Atc		Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), mRNA.							107.0	99.0	102.0					12																	7984255		2203	4300	6503	SO:0001583	missense	144195				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	g.chr12:7984255C>T	AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"""Solute carriers"""	18301	protein-coding gene	gene with protein product		611039	"""solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"""	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.286G>A	12.37:g.7984255C>T	ENSP00000440480:p.Val96Ile		OREG0021654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	645	SLC2A14_uc001qtk.3_Missense_Mutation_p.V96I|SLC2A14_uc001qtl.3_Missense_Mutation_p.V73I|SLC2A14_uc001qtm.3_Missense_Mutation_p.V73I|SLC2A14_uc010sgg.2_Intron|SLC2A14_uc001qtn.3_Missense_Mutation_p.V96I|SLC2A14_uc001qto.3_Intron	p.V111I	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN		Kidney(36;0.0883)	2	352	-			96					B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Missense_Mutation	SNP	ENST00000543909.1	37	c.331G>A	CCDS8585.1	.	.	.	.	.	.	.	.	.	.	T	8.369	0.834898	0.16820	.	.	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000396589;ENST00000539924;ENST00000546234;ENST00000542782;ENST00000535344;ENST00000537557;ENST00000535266;ENST00000542916	T;T;T;T;T;T;T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88	3.6	1.71	0.24356	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.126644	0.52532	N	0.000067	T	0.63757	0.2538	L	0.49778	1.585	0.58432	D	0.999999	B;B;B	0.21071	0.029;0.009;0.051	B;B;B	0.24701	0.055;0.016;0.05	T	0.48779	-0.9005	10	0.13853	T	0.58	.	9.232	0.37444	0.0:0.78:0.0:0.22	.	111;73;96	B7ZAC3;Q8TDB8-2;Q8TDB8	.;.;GTR14_HUMAN	I	73;96;73;96;111;73;73;73;96;96;73	ENSP00000340450:V73I;ENSP00000440480:V96I;ENSP00000407287:V73I;ENSP00000379834:V96I;ENSP00000445929:V111I;ENSP00000440043:V73I;ENSP00000438312:V73I;ENSP00000443217:V73I;ENSP00000440044:V96I;ENSP00000437653:V96I;ENSP00000442402:V73I	ENSP00000340450:V73I	V	-	1	0	SLC2A14	7875522	0.947000	0.32204	0.339000	0.25562	0.277000	0.26821	2.122000	0.41987	-0.107000	0.12088	-0.889000	0.02933	GTC		0.493	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449		7	134	0	0	0	1	0	7	134				
OAS2	4939	broad.mit.edu	37	12	113447028	113447028	+	Missense_Mutation	SNP	C	C	A			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr12:113447028C>A	ENST00000342315.4	+	10	2246	c.2032C>A	c.(2032-2034)Cca>Aca	p.P678T	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000392583.2_Missense_Mutation_p.P678T	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	678	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AAACCCAATACCACCTTGGAA	0.493																																					Pancreas(199;709 2232 18410 33584 35052)	uc001tuj.3																			0				NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(2032-2034)Cca>Aca		Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA.							212.0	208.0	209.0					12																	113447028		2203	4300	6503	SO:0001583	missense	4939				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|RNA binding|nucleotidyltransferase activity	g.chr12:113447028C>A	M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"""2'-5'-oligoadenylate synthetase 2 (69-71 kD)"""			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.2032C>A	12.37:g.113447028C>A	ENSP00000342278:p.Pro678Thr					OAS2_uc001tui.1_Missense_Mutation_p.P678T	p.P678T	NM_016817	NP_058197	P29728	OAS2_HUMAN			9	2172	+			678			OAS domain 2.		A8K9T1|Q6PJ33|Q86XX8	Missense_Mutation	SNP	ENST00000342315.4	37	c.2032C>A	CCDS31906.1	.	.	.	.	.	.	.	.	.	.	.	1.140	-0.649730	0.03506	.	.	ENSG00000111335	ENST00000342315;ENST00000392583	T;T	0.43294	0.95;0.95	4.39	-0.329	0.12686	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	2.511830	0.01957	N	0.043065	T	0.29850	0.0746	L	0.34521	1.04	0.09310	N	1	B;B	0.14805	0.011;0.008	B;B	0.15870	0.014;0.009	T	0.05599	-1.0875	10	0.20046	T	0.44	-23.8121	3.4208	0.07393	0.3039:0.4748:0.127:0.0942	.	678;678	P29728;P29728-2	OAS2_HUMAN;.	T	678	ENSP00000342278:P678T;ENSP00000376362:P678T	ENSP00000342278:P678T	P	+	1	0	OAS2	111931411	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.389000	0.07342	-0.130000	0.11599	-0.797000	0.03246	CCA		0.493	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405937.1			10	356	0	0	0	1	0	10	356				
DHX37	57647	broad.mit.edu	37	12	125459964	125459964	+	Splice_Site	SNP	C	C	T			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr12:125459964C>T	ENST00000308736.2	-	6	1079		c.e6+1		DHX37_ENST00000544745.1_Splice_Site	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37								ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		AGAGCCCTCACCGCTGGGACA	0.652																																						uc001ugy.3																			0				breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65						c.e6+1		Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 37 (DHX37), mRNA.							86.0	67.0	74.0					12																	125459964		2203	4300	6503	SO:0001630	splice_region_variant	57647						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr12:125459964C>T	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.980+1G>A	12.37:g.125459964C>T							p.R327_splice	NM_032656	NP_116045	Q8IY37	DHX37_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	6	1079	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		327			Helicase ATP-binding.		Q9BUI7|Q9P211	Splice_Site	SNP	ENST00000308736.2	37	c.980_splice	CCDS9261.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.350648	0.82132	.	.	ENSG00000150990	ENST00000308736;ENST00000544745	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1377	0.81497	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DHX37	124025917	1.000000	0.71417	0.996000	0.52242	0.902000	0.53008	6.225000	0.72271	2.333000	0.79357	0.579000	0.79373	.		0.652	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656	Intron	7	118	0	0	0	1	0	7	118				
NECAB1	64168	broad.mit.edu	37	8	91804128	91804128	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr8:91804128delA	ENST00000417640.2	+	1	351	c.14delA	c.(13-15)cagfs	p.Q5fs	TMEM64_ENST00000519519.1_5'Flank|NECAB1_ENST00000521954.1_3'UTR	NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	5						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			GAAGATTCCCAGGAGACATCG	0.647																																						uc011lgg.2																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12						c.(13-15)cagfs		Homo sapiens N-terminal EF-hand calcium binding protein 1 (NECAB1), mRNA.							34.0	39.0	38.0					8																	91804128		1884	3846	5730	SO:0001589	frameshift_variant	64168				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity	g.chr8:91804128delA	AF414126	CCDS47889.1	8q21.3	2013-01-10	2007-12-06	2007-12-06	ENSG00000123119	ENSG00000123119		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	20983	protein-coding gene	gene with protein product			"""EF-hand calcium binding protein 1"""	EFCBP1			Standard	NM_022351		Approved		uc011lgg.2	Q8N987	OTTHUMG00000164009	ENST00000417640.2:c.14delA	8.37:g.91804128delA	ENSP00000387380:p.Gln5fs					TMEM64_uc003yeo.2_5'Flank	p.Q5fs	NM_022351	NP_071746	Q8N987	NECA1_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0499)		0	208	+			5					Q6NUS7|Q96AZ7|Q9HBW8	Frame_Shift_Del	DEL	ENST00000417640.2	37	c.14delA	CCDS47889.1																																																																																				0.647	NECAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376728.1	NM_022351		2	4						2	4	---	---	---	---
