#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
TLN2	83660	broad.mit.edu	37	15	63069044	63069044	+	Missense_Mutation	SNP	G	G	A			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr15:63069044G>A	ENST00000561311.1	+	42	5679	c.5449G>A	c.(5449-5451)Gaa>Aaa	p.E1817K	TLN2_ENST00000472902.1_Missense_Mutation_p.E210K|TLN2_ENST00000306829.6_Missense_Mutation_p.E1817K			Q9Y4G6	TLN2_HUMAN	talin 2	1817					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GACGCTGAACGAAGCTGCCAG	0.567																																						ENST00000561311.1																			0				NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						c.(5449-5451)Gaa>Aaa		talin 2							105.0	85.0	91.0					15																	63069044		2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63069044G>A	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.5449G>A	15.37:g.63069044G>A	ENSP00000453508:p.Glu1817Lys					TLN2_ENST00000306829.6_Missense_Mutation_p.E1817K|TLN2_ENST00000472902.1_Missense_Mutation_p.E210K	p.E1817K			Q9Y4G6	TLN2_HUMAN			42	5679	+			1817					A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.5449G>A	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.289539	0.59976	.	.	ENSG00000171914	ENST00000306829	T	0.67345	-0.26	5.48	5.48	0.80851	.	0.095557	0.64402	D	0.000001	T	0.80454	0.4626	M	0.74546	2.27	0.80722	D	1	P;D	0.76494	0.79;0.999	B;D	0.81914	0.444;0.995	T	0.75271	-0.3376	10	0.12430	T	0.62	-23.2006	18.9631	0.92684	0.0:0.0:1.0:0.0	.	861;1817	G1UI21;Q9Y4G6	.;TLN2_HUMAN	K	1817	ENSP00000303476:E1817K	ENSP00000303476:E1817K	E	+	1	0	TLN2	60856097	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.768000	0.98965	2.567000	0.86603	0.563000	0.77884	GAA		0.567	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			3	84	0	0	0	0.150653	0	3	84				
TEK	7010	broad.mit.edu	37	9	27192585	27192585	+	Missense_Mutation	SNP	C	C	G			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr9:27192585C>G	ENST00000380036.4	+	11	2030	c.1588C>G	c.(1588-1590)Cct>Gct	p.P530A	TEK_ENST00000406359.4_Missense_Mutation_p.P487A|TEK_ENST00000519097.1_Missense_Mutation_p.P383A	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	530	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	GGAAGGGCATCCTGGACCTGT	0.517																																						ENST00000380036.4																			0				breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15						c.(1588-1590)Cct>Gct		TEK tyrosine kinase, endothelial							94.0	79.0	84.0					9																	27192585		2203	4300	6503	SO:0001583	missense	7010				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr9:27192585C>G	L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.1588C>G	9.37:g.27192585C>G	ENSP00000369375:p.Pro530Ala					TEK_ENST00000406359.4_Missense_Mutation_p.P487A|TEK_ENST00000519097.1_Missense_Mutation_p.P383A	p.P530A	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	11	2030	+		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)	530			Fibronectin type-III 1.		A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	37	c.1588C>G	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.452078	0.63290	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000406359;ENST00000519080	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	5.46	5.46	0.80206	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.47852	D	0.000213	T	0.68165	0.2971	L	0.59436	1.845	0.48087	D	0.999581	D;B;D;D	0.89917	0.999;0.382;0.999;1.0	D;P;D;D	0.87578	0.998;0.549;0.998;0.998	T	0.61903	-0.6967	10	0.20519	T	0.43	.	17.4862	0.87689	0.0:1.0:0.0:0.0	.	383;563;487;530	E7EWI2;Q59HG2;B4DHD3;Q02763	.;.;.;TIE2_HUMAN	A	383;530;487;340	ENSP00000430686:P383A;ENSP00000369375:P530A;ENSP00000383977:P487A;ENSP00000428337:P340A	ENSP00000369375:P530A	P	+	1	0	TEK	27182585	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.862000	0.62976	2.565000	0.86533	0.655000	0.94253	CCT		0.517	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3			4	113	0	0	0	0.184627	0	4	113				
NUFIP2	57532	broad.mit.edu	37	17	27620945	27620945	+	Missense_Mutation	SNP	G	G	T			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr17:27620945G>T	ENST00000225388.4	-	1	191	c.133C>A	c.(133-135)Cac>Aac	p.H45N	NUFIP2_ENST00000579665.1_Missense_Mutation_p.H45N	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	45	His-rich.					cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			tggtggtggtggttgtggctg	0.587																																						ENST00000225388.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24						c.(133-135)Cac>Aac		nuclear fragile X mental retardation protein interacting protein 2							127.0	125.0	125.0					17																	27620945		2203	4300	6503	SO:0001583	missense	57532					nucleus|polysomal ribosome	protein binding|RNA binding	g.chr17:27620945G>T	AB037742	CCDS32600.1	17q11.1	2006-03-01				ENSG00000108256			17634	protein-coding gene	gene with protein product		609356				12837692, 16407062	Standard	NM_020772		Approved	KIAA1321, MGC117262, PIG1, 182-FIP, FIP-82, 82-FIP	uc002hdy.4	Q7Z417		ENST00000225388.4:c.133C>A	17.37:g.27620945G>T	ENSP00000225388:p.His45Asn					NUFIP2_ENST00000579665.1_Missense_Mutation_p.H45N	p.H45N	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)		1	191	-			45			His-rich.		A1L3A6|Q9P2M5	Missense_Mutation	SNP	ENST00000225388.4	37	c.133C>A	CCDS32600.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.778902	0.49891	.	.	ENSG00000108256	ENST00000225388	.	.	.	5.41	5.41	0.78517	.	0.000000	0.46758	D	0.000266	T	0.24470	0.0593	N	0.08118	0	0.32353	N	0.558245	B;B	0.34226	0.238;0.443	B;B	0.30943	0.122;0.047	T	0.33777	-0.9855	9	0.45353	T	0.12	0.0249	14.6859	0.69049	0.0:0.0:1.0:0.0	.	45;45	Q7Z417;A1L3A6	NUFP2_HUMAN;.	N	45	.	ENSP00000225388:H45N	H	-	1	0	NUFIP2	24645071	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.321000	0.65846	2.539000	0.85634	0.467000	0.42956	CAC		0.587	NUFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447015.2	NM_020772		4	182	1	0	0.00024832	0.150653	0.00026649	4	182				
DYNC1I1	1780	broad.mit.edu	37	7	95664979	95664979	+	Missense_Mutation	SNP	G	G	A			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr7:95664979G>A	ENST00000324972.6	+	13	1523	c.1330G>A	c.(1330-1332)Gga>Aga	p.G444R	DYNC1I1_ENST00000359388.4_Missense_Mutation_p.G407R|DYNC1I1_ENST00000497626.1_3'UTR|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.G427R|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.G407R|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.G427R|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.G424R	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	444					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|metabolic process (GO:0008152)|vesicle transport along microtubule (GO:0047496)	cytoplasmic dynein complex (GO:0005868)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|kinetochore (GO:0000776)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)|vesicle (GO:0031982)	microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)|spectrin binding (GO:0030507)			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CGCTGTTACCGGAATGGCTTT	0.493																																						ENST00000324972.6																			0				NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54						c.(1330-1332)Gga>Aga		dynein, cytoplasmic 1, intermediate chain 1							282.0	225.0	244.0					7																	95664979		2203	4300	6503	SO:0001583	missense	1780				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	g.chr7:95664979G>A	AF063228	CCDS5644.1, CCDS47645.1, CCDS47646.1, CCDS64718.1	7q21.3-q22.1	2013-01-18	2005-11-24	2005-11-24	ENSG00000158560	ENSG00000158560		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2963	protein-coding gene	gene with protein product		603772	"""dynein, cytoplasmic, intermediate polypeptide 1"""	DNCI1		10049579, 16260502	Standard	NM_004411		Approved	DNCIC1	uc003uoc.4	O14576	OTTHUMG00000153983	ENST00000324972.6:c.1330G>A	7.37:g.95664979G>A	ENSP00000320130:p.Gly444Arg					DYNC1I1_ENST00000457059.1_Missense_Mutation_p.G427R|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.G407R|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.G407R|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.G427R|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.G424R|DYNC1I1_ENST00000497626.1_3'UTR	p.G444R	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0957)		13	1523	+	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		444					B4DME3|F5H050|G5E9K1|Q8TBF7|Q9Y2X1	Missense_Mutation	SNP	ENST00000324972.6	37	c.1330G>A	CCDS5644.1	.	.	.	.	.	.	.	.	.	.	G	9.509	1.105214	0.20632	.	.	ENSG00000158560	ENST00000447467;ENST00000324972;ENST00000537881;ENST00000437599;ENST00000359388;ENST00000457059	D;D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6;-1.6	5.1	5.1	0.69264	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.110872	0.64402	D	0.000010	T	0.68613	0.3020	N	0.03608	-0.345	0.51482	D	0.999927	B;B;B;B;B	0.22480	0.042;0.07;0.07;0.042;0.068	B;B;B;B;B	0.16722	0.007;0.016;0.016;0.007;0.016	T	0.66200	-0.5983	10	0.54805	T	0.06	-4.3923	19.0933	0.93238	0.0:0.0:1.0:0.0	.	427;424;427;444;407	Q7Z6M0;G5E9K1;O14576-2;O14576;O14576-3	.;.;.;DC1I1_HUMAN;.	R	427;444;407;424;407;427	ENSP00000392337:G427R;ENSP00000320130:G444R;ENSP00000438377:G407R;ENSP00000398118:G424R;ENSP00000352348:G407R;ENSP00000412444:G427R	ENSP00000320130:G444R	G	+	1	0	DYNC1I1	95502915	1.000000	0.71417	0.974000	0.42286	0.082000	0.17680	4.125000	0.57931	2.830000	0.97506	0.585000	0.79938	GGA		0.493	DYNC1I1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333432.1	NM_004411		4	181	0	0	0	0.184627	0	4	181				
MT-ND5	4540	broad.mit.edu	37	M	14104	14104	+	Missense_Mutation	SNP	T	T	C			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chrM:14104T>C	ENST00000361567.2	+	1	1768	c.1768T>C	c.(1768-1770)Tct>Cct	p.S590P	MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-TP_ENST00000387461.2_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TH_ENST00000387441.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	590					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						TTTACTTCCTCTCTTTCTTCT	0.383																																						ENST00000361567.2																			0				breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						c.(1768-1770)Tct>Cct		mitochondrially encoded NADH dehydrogenase 5	NADH(DB00157)																																			SO:0001583	missense	4540				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chrM:14104T>C			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.1768T>C	M.37:g.14104T>C	ENSP00000354813:p.Ser590Pro						p.S590P			P03915	NU5M_HUMAN			1	1768	+			590					Q34773|Q8WCY3	Missense_Mutation	SNP	ENST00000361567.2	37	c.1768T>C																																																																																					0.383	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024036		31	4	0	0	0	0.840704	0	31	4				
DNAH17	8632	broad.mit.edu	37	17	76464923	76464923	+	Missense_Mutation	SNP	C	C	T			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr17:76464923C>T	ENST00000585328.1	-	55	8663	c.8539G>A	c.(8539-8541)Gtt>Att	p.V2847I	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000389840.5_Missense_Mutation_p.V2838I	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	2838	AAA 4. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ACCGAGGGAACGTTCTTCACG	0.542																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(8512-8514)Gtt>Att		dynein, axonemal, heavy chain 17							81.0	86.0	84.0					17																	76464923		2099	4207	6306	SO:0001583	missense	8632							g.chr17:76464923C>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.8539G>A	17.37:g.76464923C>T	ENSP00000465516:p.Val2847Ile					DNAH17_ENST00000585328.1_Missense_Mutation_p.V2847I|DNAH17_ENST00000586052.1_5'UTR	p.V2838I					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		55	8636	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.8512G>A		.	.	.	.	.	.	.	.	.	.	T	1.910	-0.450907	0.04572	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.42513	0.97	4.99	-0.0733	0.13735	.	.	.	.	.	T	0.15219	0.0367	N	0.04260	-0.245	0.26065	N	0.981303	.	.	.	.	.	.	T	0.22556	-1.0213	7	0.18276	T	0.48	.	3.4582	0.07523	0.109:0.4773:0.1074:0.3063	.	.	.	.	I	2847;2838	ENSP00000374490:V2838I	ENSP00000300671:V2847I	V	-	1	0	DNAH17	73976518	0.001000	0.12720	0.884000	0.34674	0.330000	0.28571	0.033000	0.13754	0.171000	0.19730	-1.859000	0.00561	GTT		0.542	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		3	77	0	0	0	0.150653	0	3	77				
GTF2IRD2P1	401375	broad.mit.edu	37	7	72664015	72664015	+	RNA	SNP	C	C	G	rs202030378|rs372212945	byFrequency	TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr7:72664015C>G	ENST00000425256.1	-	0	885									GTF2I repeat domain containing 2 pseudogene 1																		ATACCACCCCCGGGGCATGCC	0.507																																						ENST00000425256.1																			0																																																			0							g.chr7:72664015C>G	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72664015C>G								NR_002164.1						0	885	-									RNA	SNP	ENST00000425256.1	37																																																																																						0.507	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		3	17	0	0	0	0.217242	0	3	17				
PALM2	114299	broad.mit.edu	37	9	112705452	112705452	+	Missense_Mutation	SNP	A	A	G			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr9:112705452A>G	ENST00000374531.2	+	7	961	c.887A>G	c.(886-888)aAg>aGg	p.K296R	AKAP2_ENST00000510514.5_Intron|PALM2_ENST00000314527.4_Missense_Mutation_p.K328R|PALM2_ENST00000448454.2_Missense_Mutation_p.K330R|PALM2-AKAP2_ENST00000302798.7_Intron|PALM2-AKAP2_ENST00000374530.3_Intron|AKAP2_ENST00000555236.1_Intron|PALM2_ENST00000483909.1_Missense_Mutation_p.K294R	NM_001037293.2	NP_001032370.1	Q8IXS6	PALM2_HUMAN	paralemmin 2	296					regulation of cell shape (GO:0008360)	plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						GAGACGAAAAAGGTGCTAGGC	0.498																																						ENST00000448454.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						c.(988-990)aAg>aGg		paralemmin 2							153.0	135.0	141.0					9																	112705452		2203	4300	6503	SO:0001583	missense	114299							g.chr9:112705452A>G	AJ312216	CCDS35099.1, CCDS48002.1, CCDS48002.2	9q31.3	2009-10-16			ENSG00000243444	ENSG00000243444			15845	protein-coding gene	gene with protein product						11478809	Standard	NM_001037293		Approved			Q8IXS6	OTTHUMG00000020479	ENST00000374531.2:c.887A>G	9.37:g.112705452A>G	ENSP00000363656:p.Lys296Arg					PALM2_ENST00000483909.1_Missense_Mutation_p.K294R|PALM2-AKAP2_ENST00000302798.7_Intron|PALM2_ENST00000374531.2_Missense_Mutation_p.K296R|PALM2-AKAP2_ENST00000374530.3_Intron|AKAP2_ENST00000555236.1_Intron|AKAP2_ENST00000510514.5_Intron|PALM2_ENST00000314527.4_Missense_Mutation_p.K328R	p.K330R							8	989	+								A9Z1X9|Q8N9D5|Q96DU1	Missense_Mutation	SNP	ENST00000374531.2	37	c.989A>G	CCDS35099.1	.	.	.	.	.	.	.	.	.	.	A	12.53	1.965631	0.34659	.	.	ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000157654	ENST00000374531;ENST00000448454;ENST00000483909;ENST00000314527;ENST00000413420	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	6.16	5.03	0.67393	.	.	.	.	.	T	0.30727	0.0774	L	0.53617	1.68	0.80722	D	1	B;B	0.29232	0.01;0.238	B;B	0.29267	0.019;0.1	T	0.08452	-1.0721	9	0.72032	D	0.01	.	11.5662	0.50807	0.931:0.0:0.069:0.0	.	296;330	Q8IXS6;D3YTA4	PALM2_HUMAN;.	R	296;330;294;328;328	ENSP00000363656:K296R;ENSP00000400206:K330R;ENSP00000417525:K294R;ENSP00000323805:K328R;ENSP00000397839:K328R	ENSP00000397839:K328R	K	+	2	0	PALM2-AKAP2;PALM2	111745273	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.919000	0.63383	1.155000	0.42497	0.528000	0.53228	AAG		0.498	PALM2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053604.1	NM_001037293		3	113	0	0	0	0.150653	0	3	113				
ASCC3	10973	broad.mit.edu	37	6	101253689	101253689	+	Missense_Mutation	SNP	A	A	G			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr6:101253689A>G	ENST00000369162.2	-	5	1213	c.869T>C	c.(868-870)aTt>aCt	p.I290T	ASCC3_ENST00000522650.1_Missense_Mutation_p.I290T	NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	290					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TCTATCCACAATTGTAATTCT	0.328																																						ENST00000369162.2																			0				breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92						c.(868-870)aTt>aCt		activating signal cointegrator 1 complex subunit 3							60.0	60.0	60.0					6																	101253689		2203	4289	6492	SO:0001583	missense	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:101253689A>G	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.869T>C	6.37:g.101253689A>G	ENSP00000358159:p.Ile290Thr					ASCC3_ENST00000522650.1_Missense_Mutation_p.I290T	p.I290T	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	5	1213	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	290					E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	c.869T>C	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	A	19.81	3.895778	0.72639	.	.	ENSG00000112249	ENST00000369162;ENST00000522650	T;T	0.45276	0.9;0.9	5.32	5.32	0.75619	.	0.124030	0.53938	D	0.000060	T	0.46776	0.1410	M	0.70275	2.135	0.80722	D	1	P;D	0.59767	0.919;0.986	P;P	0.53062	0.477;0.717	T	0.55237	-0.8172	10	0.87932	D	0	.	15.2754	0.73737	1.0:0.0:0.0:0.0	.	290;290	E7EW23;Q8N3C0	.;HELC1_HUMAN	T	290	ENSP00000358159:I290T;ENSP00000430769:I290T	ENSP00000358159:I290T	I	-	2	0	ASCC3	101360410	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.194000	0.77789	2.010000	0.58986	0.383000	0.25322	ATT		0.328	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		21	20	0	0	0	0.608945	0	21	20				
CTNNB1	1499	broad.mit.edu	37	3	41280634	41280634	+	Missense_Mutation	SNP	A	A	G			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr3:41280634A>G	ENST00000349496.5	+	15	2427	c.2147A>G	c.(2146-2148)tAt>tGt	p.Y716C	CTNNB1_ENST00000453024.1_Missense_Mutation_p.Y709C|CTNNB1_ENST00000396185.3_Missense_Mutation_p.Y716C|CTNNB1_ENST00000405570.1_Missense_Mutation_p.Y716C|CTNNB1_ENST00000396183.3_Missense_Mutation_p.Y716C|CTNNB1_ENST00000471014.1_3'UTR	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	716					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		GATCCTAGCTATCGTTCTTTT	0.493		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	ENST00000349496.5		15		Dom	yes		3	3p22-p21.3	1499	"""H, Mis, T"""	"""catenin (cadherin-associated protein), beta 1"""			"""E, M, O"""	PLAG1		"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""	CTNNB1/PLAG1(60)	0				NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893						c.(2146-2148)tAt>tGt		catenin (cadherin-associated protein), beta 1, 88kDa	Lithium(DB01356)						100.0	90.0	93.0					3																	41280634		2203	4300	6503	SO:0001583	missense	1499	Pilomatrixoma, Familial Clustering of	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	g.chr3:41280634A>G	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.2147A>G	3.37:g.41280634A>G	ENSP00000344456:p.Tyr716Cys					CTNNB1_ENST00000396185.3_Missense_Mutation_p.Y716C|CTNNB1_ENST00000396183.3_Missense_Mutation_p.Y716C|CTNNB1_ENST00000405570.1_Missense_Mutation_p.Y716C|CTNNB1_ENST00000471014.1_3'UTR|CTNNB1_ENST00000453024.1_Missense_Mutation_p.Y709C	p.Y716C	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	15	2427	+			716					A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	c.2147A>G	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	A	15.10	2.733511	0.48939	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75	5.68	5.68	0.88126	.	0.052112	0.85682	D	0.000000	T	0.48241	0.1489	L	0.39898	1.24	0.58432	D	0.999999	P;P	0.46859	0.885;0.885	P;B	0.46718	0.525;0.423	T	0.48692	-0.9013	10	0.52906	T	0.07	-14.5439	15.934	0.79688	1.0:0.0:0.0:0.0	.	644;716	B4DSW9;P35222	.;CTNB1_HUMAN	C	716;716;716;709;716	ENSP00000385604:Y716C;ENSP00000379486:Y716C;ENSP00000344456:Y716C;ENSP00000411226:Y709C;ENSP00000379488:Y716C	ENSP00000344456:Y716C	Y	+	2	0	CTNNB1	41255638	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.327000	0.79147	2.164000	0.68074	0.455000	0.32223	TAT		0.493	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210		4	105	0	0	0	0.217242	0	4	105				
TEX15	56154	broad.mit.edu	37	8	30695491	30695491	+	Missense_Mutation	SNP	T	T	C	rs571456178		TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr8:30695491T>C	ENST00000256246.2	-	3	7234	c.7160A>G	c.(7159-7161)aAg>aGg	p.K2387R		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2387					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CATTTCAACCTTTTTTGGCGT	0.388													T|||	1	0.000199681	0.0	0.0	5008	,	,		17240	0.0		0.0	False		,,,				2504	0.001					ENST00000256246.2																			0				NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138						c.(7159-7161)aAg>aGg		testis expressed 15							183.0	183.0	183.0					8																	30695491		2203	4300	6503	SO:0001583	missense	56154							g.chr8:30695491T>C	AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.7160A>G	8.37:g.30695491T>C	ENSP00000256246:p.Lys2387Arg						p.K2387R	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)	3	7234	-			2387						Missense_Mutation	SNP	ENST00000256246.2	37	c.7160A>G	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	T	7.811	0.715712	0.15306	.	.	ENSG00000133863	ENST00000256246	T	0.10477	2.87	4.42	-1.4	0.08968	.	0.973914	0.08406	N	0.950726	T	0.09247	0.0228	L	0.44542	1.39	0.09310	N	1	B	0.14012	0.009	B	0.19946	0.027	T	0.42275	-0.9461	10	0.87932	D	0	.	3.8871	0.09103	0.5401:0.1053:0.0:0.3546	.	2387	Q9BXT5	TEX15_HUMAN	R	2387	ENSP00000256246:K2387R	ENSP00000256246:K2387R	K	-	2	0	TEX15	30815033	0.000000	0.05858	0.001000	0.08648	0.241000	0.25554	0.009000	0.13219	-0.018000	0.14079	0.379000	0.24179	AAG		0.388	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			3	157	0	0	0	0.115264	0	3	157				
TMEM160	54958	broad.mit.edu	37	19	47549926	47549926	+	Missense_Mutation	SNP	G	G	A	rs200562809		TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr19:47549926G>A	ENST00000253047.6	-	2	241	c.226C>T	c.(226-228)Cgc>Tgc	p.R76C		NM_017854.1	NP_060324.1	Q9NX00	TM160_HUMAN	transmembrane protein 160	76						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				lung(1)	1		all_cancers(25;8.13e-05)|all_lung(116;0.000901)|all_epithelial(76;0.00185)|Lung NSC(112;0.00215)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;5.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;6.95e-05)|Epithelial(262;0.00363)|GBM - Glioblastoma multiforme(486;0.0242)		AGGCCATTGCGGAACCAGGAG	0.612													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17034	0.0		0.0	False		,,,				2504	0.0					ENST00000253047.6																			0				lung(1)	1						c.(226-228)Cgc>Tgc		transmembrane protein 160							87.0	79.0	81.0					19																	47549926		2203	4300	6503	SO:0001583	missense	54958					integral to membrane		g.chr19:47549926G>A	AK000519	CCDS12695.1	19q13.32	2008-02-05				ENSG00000130748			26042	protein-coding gene	gene with protein product						12477932	Standard	XM_005259027		Approved	FLJ20512	uc002pfz.3	Q9NX00		ENST00000253047.6:c.226C>T	19.37:g.47549926G>A	ENSP00000253047:p.Arg76Cys						p.R76C	NM_017854.1	NP_060324.1	Q9NX00	TM160_HUMAN		all cancers(93;5.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;6.95e-05)|Epithelial(262;0.00363)|GBM - Glioblastoma multiforme(486;0.0242)	2	241	-		all_cancers(25;8.13e-05)|all_lung(116;0.000901)|all_epithelial(76;0.00185)|Lung NSC(112;0.00215)|all_neural(266;0.0652)|Ovarian(192;0.15)	76					Q9BU41	Missense_Mutation	SNP	ENST00000253047.6	37	c.226C>T	CCDS12695.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	14.02	2.412084	0.42817	.	.	ENSG00000130748	ENST00000253047	T	0.70749	-0.51	4.69	3.6	0.41247	.	0.066456	0.56097	D	0.000037	T	0.67739	0.2925	N	0.08118	0	0.58432	D	0.999995	D	0.89917	1.0	D	0.83275	0.996	T	0.73483	-0.3968	10	0.87932	D	0	-16.9596	11.761	0.51903	0.0:0.0:0.8127:0.1873	.	76	Q9NX00	TM160_HUMAN	C	76	ENSP00000253047:R76C	ENSP00000253047:R76C	R	-	1	0	TMEM160	52241766	1.000000	0.71417	1.000000	0.80357	0.666000	0.39218	2.396000	0.44468	2.449000	0.82847	0.305000	0.20034	CGC		0.612	TMEM160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466666.1	NM_017854		4	186	0	0	0	0.184627	0	4	186				
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs2684618	byFrequency	TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr17:43587576A>G	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		tctgaaaagaaaagaaaaaaa	0.428													A|||	308	0.0615016	0.0204	0.0548	5008	,	,		16882	0.0685		0.1113	False		,,,				2504	0.0634					ENST00000253803.2																			0																																																			0							g.chr17:43587576A>G	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587576A>G						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.428	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		4	43	0	0	0	0.184627	0	4	43				
ATP1A2	477	broad.mit.edu	37	1	160098456	160098456	+	Silent	SNP	G	G	C			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr1:160098456G>C	ENST00000361216.3	+	9	1121	c.1032G>C	c.(1030-1032)ctG>ctC	p.L344L	ATP1A2_ENST00000392233.3_Silent_p.L344L	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	344					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCCTGACCCTGACAGCCAAGC	0.572																																						ENST00000361216.3																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69						c.(1030-1032)ctG>ctC		ATPase, Na+/K+ transporting, alpha 2 polypeptide							83.0	77.0	79.0					1																	160098456		2203	4300	6503	SO:0001819	synonymous_variant	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160098456G>C	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.1032G>C	1.37:g.160098456G>C						ATP1A2_ENST00000392233.3_Silent_p.L344L|ATP1A2_ENST00000472488.1_3'UTR	p.L344L	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		9	1121	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		344					D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Silent	SNP	ENST00000361216.3	37	c.1032G>C	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	G	8.661	0.900587	0.17686	.	.	ENSG00000018625	ENST00000447527	.	.	.	4.77	3.86	0.44501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0569	0.53540	0.0858:0.0:0.9142:0.0	.	.	.	.	S	55	.	.	X	+	2	2	ATP1A2	158365080	0.990000	0.36364	1.000000	0.80357	0.929000	0.56500	0.128000	0.15810	1.141000	0.42275	0.561000	0.74099	TGA		0.572	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		3	104	0	0	0	0.115264	0	3	104				
TCAP	8557	broad.mit.edu	37	17	37822184	37822184	+	Missense_Mutation	SNP	C	C	T			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr17:37822184C>T	ENST00000309889.2	+	2	1499	c.326C>T	c.(325-327)aCc>aTc	p.T109I	TCAP_ENST00000578283.1_Missense_Mutation_p.T85I|PNMT_ENST00000581428.1_5'Flank|PNMT_ENST00000269582.2_5'Flank|PNMT_ENST00000394246.1_5'Flank			O15273	TELT_HUMAN	titin-cap	109					adult heart development (GO:0007512)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of mechanical stimulus (GO:0050982)|detection of muscle stretch (GO:0035995)|muscle filament sliding (GO:0030049)|otic vesicle formation (GO:0030916)|protein complex assembly (GO:0006461)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle contraction (GO:0003009)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)	cytosol (GO:0005829)|I band (GO:0031674)|Z disc (GO:0030018)	FATZ binding (GO:0051373)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			kidney(1)|lung(1)	2	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CGTGAGGACACCCCCATCCAG	0.662																																						ENST00000309889.2																			0				kidney(1)|lung(1)	2						c.(325-327)aCc>aTc		titin-cap							33.0	33.0	33.0					17																	37822184		2202	4299	6501	SO:0001583	missense	8557				adult heart development|cardiac muscle contraction|cardiac muscle fiber development|cardiac muscle tissue morphogenesis|detection of mechanical stimulus|muscle filament sliding|response to stress|sarcomere organization|skeletal muscle contraction|skeletal muscle myosin thick filament assembly|skeletal muscle thin filament assembly	cytosol|Z disc	structural constituent of muscle|titin binding|titin Z domain binding	g.chr17:37822184C>T	AJ000491	CCDS11342.1	17q12	2014-09-17	2012-09-20		ENSG00000173991	ENSG00000173991			11610	protein-coding gene	gene with protein product	"""19 kDa sarcomeric protein"""	604488	"""limb girdle muscular dystrophy 2G (autosomal recessive)"", ""titin-cap (telethonin)"""	LGMD2G		9350988, 9817758	Standard	NM_003673		Approved	T-cap, TELE, telethonin, CMD1N	uc002hsh.3	O15273	OTTHUMG00000133215	ENST00000309889.2:c.326C>T	17.37:g.37822184C>T	ENSP00000312624:p.Thr109Ile					TCAP_ENST00000578283.1_Missense_Mutation_p.T85I	p.T109I			O15273	TELT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		2	1499	+	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		109					Q96L27	Missense_Mutation	SNP	ENST00000309889.2	37	c.326C>T	CCDS11342.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.514521	0.27123	.	.	ENSG00000173991	ENST00000309889	D	0.86956	-2.19	5.71	5.71	0.89125	.	0.165133	0.53938	D	0.000051	D	0.89118	0.6624	N	0.19112	0.55	0.46478	D	0.999065	D	0.76494	0.999	D	0.75020	0.985	D	0.90595	0.4540	10	0.72032	D	0.01	-28.1021	18.616	0.91303	0.0:1.0:0.0:0.0	.	109	O15273	TELT_HUMAN	I	109	ENSP00000312624:T109I	ENSP00000312624:T109I	T	+	2	0	TCAP	35075710	0.649000	0.27322	0.998000	0.56505	0.047000	0.14425	2.277000	0.43417	2.695000	0.91970	0.462000	0.41574	ACC		0.662	TCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256942.1	NM_003673		17	15	0	0	0	0.500413	0	17	15				
GAPVD1	26130	broad.mit.edu	37	9	128099547	128099547	+	Missense_Mutation	SNP	C	C	T			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr9:128099547C>T	ENST00000495955.1	+	17	2844	c.2554C>T	c.(2554-2556)Cat>Tat	p.H852Y	GAPVD1_ENST00000312123.9_Missense_Mutation_p.H831Y|GAPVD1_ENST00000394105.2_Missense_Mutation_p.H879Y|GAPVD1_ENST00000470056.1_Missense_Mutation_p.H852Y|GAPVD1_ENST00000265956.4_Missense_Mutation_p.H826Y|GAPVD1_ENST00000394083.2_Missense_Mutation_p.H831Y|GAPVD1_ENST00000297933.6_Missense_Mutation_p.H852Y|GAPVD1_ENST00000394104.2_Missense_Mutation_p.H852Y			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	852					endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TAGGCCATCGCATCCACCACC	0.478																																						ENST00000470056.1																			0				central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2554-2556)Cat>Tat		GTPase activating protein and VPS9 domains 1							84.0	83.0	83.0					9																	128099547		2203	4300	6503	SO:0001583	missense	26130				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr9:128099547C>T		CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.2554C>T	9.37:g.128099547C>T	ENSP00000419063:p.His852Tyr					GAPVD1_ENST00000495955.1_Missense_Mutation_p.H852Y|GAPVD1_ENST00000312123.9_Missense_Mutation_p.H831Y|GAPVD1_ENST00000394105.2_Missense_Mutation_p.H879Y|GAPVD1_ENST00000394083.2_Missense_Mutation_p.H831Y|GAPVD1_ENST00000394104.2_Missense_Mutation_p.H852Y|GAPVD1_ENST00000265956.4_Missense_Mutation_p.H826Y|GAPVD1_ENST00000297933.6_Missense_Mutation_p.H852Y	p.H852Y			Q14C86	GAPD1_HUMAN			15	2714	+			852					A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Missense_Mutation	SNP	ENST00000495955.1	37	c.2554C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.1|29.1	4.978735|4.978735	0.92982|0.92982	.|.	.|.	ENSG00000165219|ENSG00000165219	ENST00000436712|ENST00000470056;ENST00000394105;ENST00000394104;ENST00000265956;ENST00000394083;ENST00000495955;ENST00000467750;ENST00000297933;ENST00000312123	.|.	.|.	.|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.66066|0.66066	0.2752|0.2752	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	.|P;P;P;P;P;D	.|0.53745	.|0.908;0.851;0.908;0.908;0.908;0.962	.|D;P;D;D;D;D	.|0.66716	.|0.922;0.838;0.922;0.922;0.922;0.946	T|T	0.65586|0.65586	-0.6132|-0.6132	5|9	.|0.52906	.|T	.|0.07	.|.	19.8676|19.8676	0.96824|0.96824	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|826;852;852;831;852;879	.|Q14C86-5;Q14C86;Q14C86-3;Q14C86-4;Q14C86-2;Q14C86-6	.|.;GAPD1_HUMAN;.;.;.;.	V|Y	688|852;879;852;826;831;852;852;852;831	.|.	.|ENSP00000265956:H826Y	A|H	+|+	2|1	0|0	GAPVD1|GAPVD1	127139368|127139368	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.994000|0.994000	0.84299|0.84299	7.487000|7.487000	0.81328|0.81328	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCA|CAT		0.478	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1			22	37	0	0	0	0.639603	0	22	37				
HEATR5B	54497	broad.mit.edu	37	2	37227778	37227778	+	Silent	SNP	T	T	C			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr2:37227778T>C	ENST00000233099.5	-	33	5591	c.5496A>G	c.(5494-5496)acA>acG	p.T1832T	HEATR5B_ENST00000354531.2_Silent_p.T1743T	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1832						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GAATCAGAGCTGTCCACTGTT	0.428																																						ENST00000233099.5																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77						c.(5494-5496)acA>acG		HEAT repeat containing 5B							140.0	137.0	138.0					2																	37227778		2203	4300	6503	SO:0001819	synonymous_variant	54497						binding	g.chr2:37227778T>C	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.5496A>G	2.37:g.37227778T>C						HEATR5B_ENST00000354531.2_Silent_p.T1743T	p.T1832T	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN			33	5591	-		all_hematologic(82;0.21)	1832					B5MDU8|Q7Z3B2|Q9NVL7	Silent	SNP	ENST00000233099.5	37	c.5496A>G	CCDS33181.1																																																																																				0.428	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		53	98	0	0	0	0.870114	0	53	98				
XYLB	9942	broad.mit.edu	37	3	38420767	38420767	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr3:38420767C>T	ENST00000207870.3	+	15	1315	c.1225C>T	c.(1225-1227)Cga>Tga	p.R409*	XYLB_ENST00000472721.1_3'UTR|XYLB_ENST00000542835.1_Nonsense_Mutation_p.R272*	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	409					carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|D-xylose metabolic process (GO:0042732)|generation of precursor metabolites and energy (GO:0006091)|xylulose catabolic process (GO:0005998)|xylulose metabolic process (GO:0005997)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|xylulokinase activity (GO:0004856)			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		TGTGGAGGTTCGAGCACTAAT	0.527																																						ENST00000207870.3																			0				endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24						c.(1225-1227)Cga>Tga		xylulokinase homolog (H. influenzae)							178.0	145.0	156.0					3																	38420767		2203	4300	6503	SO:0001587	stop_gained	9942				D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity	g.chr3:38420767C>T	AB015046	CCDS2678.1	3p22-p21.3	2006-12-18	2001-12-04		ENSG00000093217	ENSG00000093217			12839	protein-coding gene	gene with protein product		604049	"""xylulokinase (H. influenzae) homolog"""			9763671	Standard	NM_005108		Approved	FLJ10343, FLJ12539	uc003cic.2	O75191	OTTHUMG00000131294	ENST00000207870.3:c.1225C>T	3.37:g.38420767C>T	ENSP00000207870:p.Arg409*					XYLB_ENST00000542835.1_Nonsense_Mutation_p.R272*|XYLB_ENST00000472721.1_3'UTR	p.R409*	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)	15	1315	+			409					B2RAW4|B4DDT2|B9EH64	Nonsense_Mutation	SNP	ENST00000207870.3	37	c.1225C>T	CCDS2678.1	.	.	.	.	.	.	.	.	.	.	C	38	6.787490	0.97837	.	.	ENSG00000093217	ENST00000207870;ENST00000542835	.	.	.	5.16	2.16	0.27623	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.9287	0.19126	0.1409:0.6393:0.1371:0.0826	.	.	.	.	X	409;272	.	ENSP00000207870:R409X	R	+	1	2	XYLB	38395771	0.993000	0.37304	0.693000	0.30195	0.869000	0.49853	2.959000	0.49153	1.141000	0.42275	0.561000	0.74099	CGA		0.527	XYLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254062.2	NM_005108		65	67	0	0	0	0.870114	0	65	67				
MUC4	4585	broad.mit.edu	37	3	195509886	195509886	+	Silent	SNP	G	G	C	rs369181624		TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr3:195509886G>C	ENST00000463781.3	-	2	9024	c.8565C>G	c.(8563-8565)tcC>tcG	p.S2855S	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.S2855S|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGGACACTGAGGAAGCGTCGG	0.587																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(8563-8565)tcC>tcG		mucin 4, cell surface associated							44.0	31.0	35.0					3																	195509886		680	1575	2255	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195509886G>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.8565C>G	3.37:g.195509886G>C						MUC4_ENST00000475231.1_Silent_p.S2855S|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	p.S2855S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	9024	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	603					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	c.8565C>G	CCDS54700.1																																																																																				0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	6	0	0	0	0.115264	0	3	6				
HDLBP	3069	broad.mit.edu	37	2	242179484	242179484	+	Missense_Mutation	SNP	G	G	C			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr2:242179484G>C	ENST00000391975.1	-	18	2450	c.2223C>G	c.(2221-2223)ttC>ttG	p.F741L	HDLBP_ENST00000391976.2_Missense_Mutation_p.F741L|HDLBP_ENST00000310931.4_Missense_Mutation_p.F741L|HDLBP_ENST00000427183.2_Missense_Mutation_p.F708L	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	741	KH 9. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		TGCCGATGAGGAATTTGTGGT	0.557																																						ENST00000391975.1																			0				breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2221-2223)ttC>ttG		high density lipoprotein binding protein							173.0	163.0	166.0					2																	242179484		2203	4300	6503	SO:0001583	missense	3069				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	g.chr2:242179484G>C		CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.2223C>G	2.37:g.242179484G>C	ENSP00000375836:p.Phe741Leu					HDLBP_ENST00000391976.2_Missense_Mutation_p.F741L|HDLBP_ENST00000310931.4_Missense_Mutation_p.F741L|HDLBP_ENST00000427183.2_Missense_Mutation_p.F708L	p.F741L	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)	18	2450	-		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	741			KH 9.		B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	ENST00000391975.1	37	c.2223C>G	CCDS2547.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	23.4|23.4|23.4	4.410929|4.410929|4.410929	0.83340|0.83340|0.83340	.|.|.	.|.|.	ENSG00000115677|ENSG00000115677|ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183;ENST00000452931|ENST00000373292|ENST00000427487	T;T;T;T;T|.|.	0.27720|.|.	1.65;1.65;1.65;1.65;1.91|.|.	5.59|5.59|5.59	3.79|3.79|3.79	0.43588|0.43588|0.43588	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);|.|.	0.000000|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|T	0.75635|0.75635|0.75635	0.3876|0.3876|0.3876	M|M|M	0.84511|0.84511|0.84511	2.7|2.7|2.7	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;P|.|.	0.89917|.|.	1.0;0.767|.|.	D;P|.|.	0.74674|.|.	0.984;0.685|.|.	T|T|T	0.77986|0.77986|0.77986	-0.2381|-0.2381|-0.2381	10|5|5	0.59425|.|.	D|.|.	0.04|.|.	-19.1857|-19.1857|-19.1857	11.5681|11.5681|11.5681	0.50818|0.50818|0.50818	0.1429:0.0:0.8571:0.0|0.1429:0.0:0.8571:0.0|0.1429:0.0:0.8571:0.0	.|.|.	708;741|.|.	E7EM71;Q00341|.|.	.;VIGLN_HUMAN|.|.	L|A|C	741;741;741;708;250|550|143	ENSP00000375836:F741L;ENSP00000375837:F741L;ENSP00000312042:F741L;ENSP00000399139:F708L;ENSP00000388876:F250L|.|.	ENSP00000312042:F741L|.|.	F|P|S	-|-|-	3|1|2	2|0|0	HDLBP|HDLBP|HDLBP	241828157|241828157|241828157	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.902000|0.902000|0.902000	0.53008|0.53008|0.53008	4.432000|4.432000|4.432000	0.59922|0.59922|0.59922	1.388000|1.388000|1.388000	0.46506|0.46506|0.46506	-0.142000|-0.142000|-0.142000	0.14014|0.14014|0.14014	TTC|CCT|TCC		0.557	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257245.5	NM_203346		64	95	0	0	0	0.870114	0	64	95				
LRRC37A4P	55073	broad.mit.edu	37	17	43587657	43587657	+	RNA	SNP	C	C	T			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr17:43587657C>T	ENST00000579913.1	-	0	1396				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GGTGACAACACATCTGTTTTA	0.323																																						ENST00000253803.2																			0																																																			0							g.chr17:43587657C>T	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587657C>T						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.323	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		5	126	0	0	0	0.184627	0	5	126				
ANKRD30A	91074	broad.mit.edu	37	10	37430948	37430948	+	Missense_Mutation	SNP	C	C	G			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr10:37430948C>G	ENST00000602533.1	+	7	1054	c.955C>G	c.(955-957)Cca>Gca	p.P319A	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.P319A|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P319A			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	375					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATTTACGTGGCCAGCAAAAGG	0.423																																						ENST00000374660.1																			0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(955-957)Cca>Gca		ankyrin repeat domain 30A							102.0	101.0	102.0					10																	37430948		1856	4094	5950	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37430948C>G	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.955C>G	10.37:g.37430948C>G	ENSP00000473551:p.Pro319Ala					ANKRD30A_ENST00000602533.1_Missense_Mutation_p.P319A|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.P319A	p.P319A			Q9BXX3	AN30A_HUMAN			7	1054	+			375					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.955C>G		.	.	.	.	.	.	.	.	.	.	.	0	-2.634296	0.00114	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.41400	1.17;1.0	0.0465	0.0465	0.14256	.	.	.	.	.	T	0.45577	0.1349	L	0.40543	1.245	0.09310	N	1	D	0.63880	0.993	D	0.68192	0.956	T	0.39292	-0.9621	8	0.15066	T	0.55	.	.	.	.	.	375	Q9BXX3	AN30A_HUMAN	A	319	ENSP00000354432:P319A;ENSP00000363792:P319A	ENSP00000354432:P319A	P	+	1	0	ANKRD30A	37470954	0.001000	0.12720	0.009000	0.14445	0.010000	0.07245	1.228000	0.32588	0.132000	0.18615	0.134000	0.15878	CCA		0.423	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		3	97	0	0	0	0.150653	0	3	97				
LAMC2	3918	broad.mit.edu	37	1	183208652	183208652	+	Missense_Mutation	SNP	A	A	G			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr1:183208652A>G	ENST00000264144.4	+	20	3088	c.3023A>G	c.(3022-3024)aAg>aGg	p.K1008R	LAMC2_ENST00000461729.1_3'UTR|LAMC2_ENST00000493293.1_Missense_Mutation_p.K1008R	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	1008	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						CAGAGGGCAAAGAATGGGGCC	0.542																																						ENST00000264144.4																			0				breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(3022-3024)aAg>aGg		laminin, gamma 2							69.0	82.0	77.0					1																	183208652		2203	4300	6503	SO:0001583	missense	3918				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	g.chr1:183208652A>G	Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.3023A>G	1.37:g.183208652A>G	ENSP00000264144:p.Lys1008Arg					LAMC2_ENST00000493293.1_Missense_Mutation_p.K1008R|LAMC2_ENST00000461729.1_3'UTR	p.K1008R	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN			20	3088	+			1008			Domain II and I.		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation	SNP	ENST00000264144.4	37	c.3023A>G	CCDS1352.1	.	.	.	.	.	.	.	.	.	.	A	9.127	1.010388	0.19277	.	.	ENSG00000058085	ENST00000493293;ENST00000264144	T;T	0.79352	2.37;-1.26	5.09	0.962	0.19643	.	0.731905	0.13646	N	0.372623	T	0.71929	0.3398	M	0.79475	2.455	0.27320	N	0.957063	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.09377	0.002;0.002;0.004	T	0.58769	-0.7578	10	0.29301	T	0.29	.	4.5268	0.11985	0.5113:0.0:0.3458:0.1429	.	1008;1008;1008	Q2M1N2;Q13753;Q13753-2	.;LAMC2_HUMAN;.	R	1008	ENSP00000432063:K1008R;ENSP00000264144:K1008R	ENSP00000264144:K1008R	K	+	2	0	LAMC2	181475275	1.000000	0.71417	0.476000	0.27291	0.074000	0.17049	2.169000	0.42434	-0.083000	0.12618	0.402000	0.26972	AAG		0.542	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562		43	77	0	0	0	0.870114	0	43	77				
CFHR2	3080	broad.mit.edu	37	1	196883707	196883707	+	Intron	SNP	C	C	T			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr1:196883707C>T	ENST00000367421.3	+	2	135				CFHR4_ENST00000608469.1_Intron|CFHR4_ENST00000367416.2_Silent_p.Y420Y|CFHR4_ENST00000367418.2_Silent_p.Y174Y|CFHR4_ENST00000251424.4_Silent_p.Y174Y			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						CATTGGACTACGAATGCTACG	0.393																																						ENST00000367416.2																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						c.(1258-1260)taC>taT		complement factor H-related 4							119.0	108.0	112.0					1																	196883707		1931	4156	6087	SO:0001627	intron_variant	10877							g.chr1:196883707C>T	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-34878C>T	1.37:g.196883707C>T						CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Silent_p.Y174Y|CFHR4_ENST00000251424.4_Silent_p.Y174Y	p.Y420Y	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1					8	1397	+								Q14310|Q5T9T1	Silent	SNP	ENST00000367421.3	37	c.1260C>T																																																																																					0.393	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005666		5	107	0	0	0	0.248553	0	5	107				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	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)	ENST00000288602.6	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(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)	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		v-raf murine sarcoma viral oncogene homolog B	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_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	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		42	60	0	0	0	0.859065	0	42	60				
EIF3F	8665	broad.mit.edu	37	11	8015971	8015971	+	Splice_Site	SNP	A	A	T			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr11:8015971A>T	ENST00000533626.1	+	7	1279		c.e7-1		EIF3F_ENST00000449102.2_Splice_Site|EIF3F_ENST00000537635.1_Splice_Site|EIF3F_ENST00000309828.4_Splice_Site					eukaryotic translation initiation factor 3, subunit F											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13				Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTCCTTCCGCAGCACTTTAAT	0.512																																						ENST00000533626.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)	13						c.e7-1		eukaryotic translation initiation factor 3, subunit F							92.0	76.0	81.0					11																	8015971		2201	4296	6497	SO:0001630	splice_region_variant	8665					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr11:8015971A>T	U94855, AK093511	CCDS7785.1	11p15.4	2010-03-10	2007-07-27	2007-07-27	ENSG00000175390	ENSG00000175390			3275	protein-coding gene	gene with protein product		603914	"""eukaryotic translation initiation factor 3, subunit 5 epsilon, 47kDa"""	EIF3S5		9341143	Standard	NM_003754		Approved	eIF3-epsilon, eIF3-p47, eIF3f	uc001mfw.3	O00303		ENST00000533626.1:c.654-1A>T	11.37:g.8015971A>T						EIF3F_ENST00000449102.2_Splice_Site|EIF3F_ENST00000537635.1_Splice_Site|EIF3F_ENST00000309828.4_Splice_Site				O00303	EIF3F_HUMAN		Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	7	1279	+									Splice_Site	SNP	ENST00000533626.1	37		CCDS7785.1	.	.	.	.	.	.	.	.	.	.	A	14.54	2.566756	0.45694	.	.	ENSG00000175390	ENST00000533626;ENST00000537635;ENST00000309828;ENST00000538607;ENST00000449102	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.2157	0.59859	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EIF3F	7972547	1.000000	0.71417	1.000000	0.80357	0.443000	0.32047	8.344000	0.90055	2.172000	0.68678	0.533000	0.62120	.		0.512	EIF3F-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385713.2	NM_003754	Intron	7	26	0	0	0	0.248553	0	7	26				
MMP16	4325	broad.mit.edu	37	8	89053760	89053760	+	Missense_Mutation	SNP	A	A	T			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr8:89053760A>T	ENST00000286614.6	-	10	2034	c.1753T>A	c.(1753-1755)Ttc>Atc	p.F585I		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	585					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	TTGAACTGGAACACAGTGTAA	0.443																																						ENST00000286614.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						c.(1753-1755)Ttc>Atc		matrix metallopeptidase 16 (membrane-inserted)							170.0	147.0	155.0					8																	89053760		2203	4300	6503	SO:0001583	missense	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89053760A>T	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.1753T>A	8.37:g.89053760A>T	ENSP00000286614:p.Phe585Ile						p.F585I	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN			10	2034	-			585					B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	c.1753T>A	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	A	13.01	2.110162	0.37242	.	.	ENSG00000156103	ENST00000286614	T	0.32023	1.47	5.62	4.47	0.54385	Peptidase M10A, matrix metallopeptidase, C-terminal (1);	0.046344	0.85682	D	0.000000	T	0.23133	0.0559	L	0.31578	0.945	0.53688	D	0.999973	B	0.09022	0.002	B	0.22152	0.038	T	0.03630	-1.1018	10	0.28530	T	0.3	.	11.3582	0.49627	0.9291:0.0:0.0709:0.0	.	585	P51512	MMP16_HUMAN	I	585	ENSP00000286614:F585I	ENSP00000286614:F585I	F	-	1	0	MMP16	89122876	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.237000	0.43061	0.968000	0.38212	0.482000	0.46254	TTC		0.443	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		4	119	0	0	0	0.184627	0	4	119				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		3	41	0	0	0	0.150653	0	3	41				
MEP1A	4224	broad.mit.edu	37	6	46766859	46766859	+	Missense_Mutation	SNP	T	T	C			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr6:46766859T>C	ENST00000230588.4	+	5	212	c.203T>C	c.(202-204)cTg>cCg	p.L68P		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	68	Metalloprotease.				digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			AGAAATGGCCTGAGAGACCCA	0.428																																						ENST00000230588.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(202-204)cTg>cCg		meprin A, alpha (PABA peptide hydrolase)							152.0	144.0	147.0					6																	46766859		2203	4300	6503	SO:0001583	missense	4224				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	g.chr6:46766859T>C		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.203T>C	6.37:g.46766859T>C	ENSP00000230588:p.Leu68Pro						p.L68P	NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	Lung(136;0.192)		5	212	+			68			Metalloprotease.		A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Missense_Mutation	SNP	ENST00000230588.4	37	c.203T>C	CCDS4918.1	.	.	.	.	.	.	.	.	.	.	T	15.26	2.779676	0.49891	.	.	ENSG00000112818	ENST00000230588	T	0.28454	1.61	5.77	5.77	0.91146	Metallopeptidase, catalytic domain (1);	0.295969	0.32459	N	0.006070	T	0.40040	0.1101	M	0.62723	1.935	0.80722	D	1	D;D	0.71674	0.998;0.991	P;P	0.62813	0.907;0.873	T	0.39981	-0.9587	10	0.87932	D	0	-5.6365	12.4895	0.55891	0.0:0.0:0.0:1.0	.	96;68	B7ZL91;Q16819	.;MEP1A_HUMAN	P	68	ENSP00000230588:L68P	ENSP00000230588:L68P	L	+	2	0	MEP1A	46874818	0.997000	0.39634	0.900000	0.35374	0.362000	0.29581	4.032000	0.57274	2.216000	0.71823	0.528000	0.53228	CTG		0.428	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588		3	126	0	0	0	0.150653	0	3	126				
LDHA	3939	broad.mit.edu	37	11	18421059	18421059	+	Missense_Mutation	SNP	C	C	G			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr11:18421059C>G	ENST00000422447.3	+	3	481	c.208C>G	c.(208-210)Ctt>Gtt	p.L70V	LDHA_ENST00000540430.1_Missense_Mutation_p.L99V|LDHA_ENST00000379412.5_Missense_Mutation_p.L70V|LDHA_ENST00000227157.4_Missense_Mutation_p.L70V|LDHA_ENST00000396222.2_Missense_Mutation_p.L70V|LDHA_ENST00000430553.2_Missense_Mutation_p.L70V|LDHA_ENST00000542179.1_Missense_Mutation_p.L70V	NM_001135239.1|NM_005566.3	NP_001128711.1|NP_005557.1	P00338	LDHA_HUMAN	lactate dehydrogenase A	70					cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|cellular response to extracellular stimulus (GO:0031668)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	L-lactate dehydrogenase activity (GO:0004459)			central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12						ACATGGCAGCCTTTTCCTTAG	0.378																																						ENST00000422447.3																			0				central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12						c.(208-210)Ctt>Gtt		lactate dehydrogenase A	NADH(DB00157)						124.0	115.0	118.0					11																	18421059		2199	4293	6492	SO:0001583	missense	3939				glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity|protein binding	g.chr11:18421059C>G	X02152	CCDS7839.1, CCDS44549.1, CCDS53609.1, CCDS53610.1, CCDS53611.1	11p15.1	2012-10-02			ENSG00000134333	ENSG00000134333	1.1.1.27		6535	protein-coding gene	gene with protein product		150000				3000353	Standard	NM_005566		Approved		uc010rdd.2	P00338	OTTHUMG00000167721	ENST00000422447.3:c.208C>G	11.37:g.18421059C>G	ENSP00000395337:p.Leu70Val					LDHA_ENST00000430553.2_Missense_Mutation_p.L70V|LDHA_ENST00000396222.2_Missense_Mutation_p.L70V|LDHA_ENST00000227157.4_Missense_Mutation_p.L70V|LDHA_ENST00000379412.5_Missense_Mutation_p.L70V|LDHA_ENST00000542179.1_Missense_Mutation_p.L70V|LDHA_ENST00000540430.1_Missense_Mutation_p.L99V	p.L70V	NM_001135239.1|NM_005566.3	NP_001128711.1|NP_005557.1	P00338	LDHA_HUMAN			3	481	+			70					B4DKQ2|B7Z5E3|D3DQY3|F8W819|Q53G53|Q6IBM7|Q6ZNV1|Q9UDE8|Q9UDE9	Missense_Mutation	SNP	ENST00000422447.3	37	c.208C>G	CCDS7839.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.795916	0.70452	.	.	ENSG00000134333	ENST00000422447;ENST00000543445;ENST00000430553;ENST00000396222;ENST00000535451;ENST00000227157;ENST00000478970;ENST00000495052;ENST00000540430;ENST00000379412;ENST00000542179	D;D;D;D;D;D;D;D;D;D;D	0.88124	-2.34;-2.34;-2.34;-2.34;-2.34;-2.34;-2.34;-2.34;-2.34;-2.34;-2.34	5.03	5.03	0.67393	Lactate/malate dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.83344	0.5234	L	0.45228	1.405	0.80722	D	1	B;B;B;B	0.20780	0.031;0.048;0.006;0.012	B;B;B;B	0.25884	0.026;0.064;0.02;0.016	T	0.77574	-0.2537	10	0.13853	T	0.58	-3.8792	18.9079	0.92471	0.0:1.0:0.0:0.0	.	99;70;70;70	B7Z5E3;B4DKQ2;F8W819;P00338	.;.;.;LDHA_HUMAN	V	70;70;70;70;70;70;70;70;99;70;70	ENSP00000395337:L70V;ENSP00000440161:L70V;ENSP00000406172:L70V;ENSP00000379524:L70V;ENSP00000444292:L70V;ENSP00000227157:L70V;ENSP00000441241:L70V;ENSP00000446415:L70V;ENSP00000445175:L99V;ENSP00000368722:L70V;ENSP00000445331:L70V	ENSP00000227157:L70V	L	+	1	0	LDHA	18377635	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.523000	0.81856	2.768000	0.95171	0.655000	0.94253	CTT		0.378	LDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258172.2	NM_005566		52	79	0	0	0	0.870114	0	52	79				
ANKRD30B	374860	broad.mit.edu	37	18	14850291	14850291	+	Silent	SNP	T	T	C			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr18:14850291T>C	ENST00000358984.4	+	35	3297	c.3117T>C	c.(3115-3117)ctT>ctC	p.L1039L		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1039										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AAGAGCAACTTAGGAAAAAGT	0.294																																						ENST00000358984.4																			0				breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						c.(3115-3117)ctT>ctC		ankyrin repeat domain 30B							70.0	61.0	64.0					18																	14850291		692	1574	2266	SO:0001819	synonymous_variant	374860							g.chr18:14850291T>C	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.3117T>C	18.37:g.14850291T>C							p.L1039L	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN			35	3297	+			1124					B4DGP1|F8WAG3|Q4G175	Silent	SNP	ENST00000358984.4	37	c.3117T>C	CCDS54182.1																																																																																				0.294	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		13	13	0	0	0	0.457914	0	13	13				
HLA-DRB6	3128	broad.mit.edu	37	6	32523362	32523363	+	RNA	INS	-	-	GATA	rs142676080|rs190692498		TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr6:32523362_32523363insGATA	ENST00000411500.1	-	0	458					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		AAAGCAATGTGGATAAAGGGAC	0.431																																						ENST00000411500.1																			0																																																			0							g.chr6:32523362_32523363insGATA	L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32523363_32523366dupGATA								NR_001298.1						0	458	-									RNA	INS	ENST00000411500.1	37																																																																																						0.431	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		2	4						2	4	---	---	---	---
LINC01276	103106903	broad.mit.edu	37	6	41472771	41472772	+	lincRNA	INS	-	-	C	rs150091179|rs61319385		TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr6:41472771_41472772insC	ENST00000416951.1	+	0	339				RP11-328M4.2_ENST00000440194.1_RNA																							cctcctTCGTACCCCCCCCCGC	0.673																																						ENST00000416951.1																			0																																																			0							g.chr6:41472771_41472772insC																													6.37:g.41472780_41472780dupC						RP11-328M4.2_ENST00000440194.1_RNA								0	339	+									RNA	INS	ENST00000416951.1	37																																																																																						0.673	RP11-328M4.3-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000316000.2			2	4						2	4	---	---	---	---
TRDN	10345	broad.mit.edu	37	6	123786033	123786033	+	Intron	DEL	A	A	-	rs201431159		TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr6:123786033delA	ENST00000398178.3	-	10	953				RP11-532N4.2_ENST00000589182.1_RNA|TRDN_ENST00000334268.4_Intron|RP11-532N4.2_ENST00000434768.1_RNA|RP11-532N4.2_ENST00000418467.2_RNA|RP11-532N4.2_ENST00000587106.2_RNA|RP11-532N4.2_ENST00000427828.1_RNA|RP11-532N4.2_ENST00000587049.1_RNA|TRDN_ENST00000546248.1_Frame_Shift_Del_p.S297fs	NM_006073.3	NP_006064.2	Q13061	TRDN_HUMAN	triadin						cellular calcium ion homeostasis (GO:0006874)|cytoplasmic microtubule organization (GO:0031122)|endoplasmic reticulum membrane organization (GO:0090158)|heart contraction (GO:0060047)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|myotube differentiation (GO:0014902)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|positive regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901846)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to organic cyclic compound (GO:0014070)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		GATCTTTAAGAAAAAAAAAAG	0.388																																						ENST00000546248.1																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41						c.(889-891)ctfs		triadin							47.0	48.0	48.0					6																	123786033		1889	4111	6000	SO:0001627	intron_variant	10345				muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding	g.chr6:123786033delA	U18985	CCDS59035.1, CCDS75511.1	6q22.31	2008-05-15			ENSG00000186439	ENSG00000186439			12261	protein-coding gene	gene with protein product		603283				7588753	Standard	NM_001251987		Approved		uc003pzj.2	Q13061	OTTHUMG00000015497	ENST00000398178.3:c.931+17T>-	6.37:g.123786033delA						RP11-532N4.2_ENST00000427828.1_RNA|TRDN_ENST00000334268.4_Intron|RP11-532N4.2_ENST00000587106.1_RNA|RP11-532N4.2_ENST00000589182.1_RNA|TRDN_ENST00000398178.3_Intron|RP11-532N4.2_ENST00000434768.1_RNA|RP11-532N4.2_ENST00000418467.2_RNA	p.S297fs	NM_001256020.1	NP_001242949.1	Q13061	TRDN_HUMAN		GBM - Glioblastoma multiforme(226;0.184)	9	1022	-			0					A5D6W5|F5H2W7|Q6NSB8	Frame_Shift_Del	DEL	ENST00000398178.3	37	c.889delT	CCDS55053.1																																																																																				0.388	TRDN-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				2	4						2	4	---	---	---	---
CEP290	80184	broad.mit.edu	37	12	88512304	88512305	+	Frame_Shift_Ins	INS	-	-	T	rs77980773		TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr12:88512304_88512305insT	ENST00000552810.1	-	17	2009_2010	c.1666_1667insA	c.(1666-1668)attfs	p.I556fs	CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Frame_Shift_Ins_p.I558fs	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	556					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)		p.I558fs*20(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CATTTGACGAATTTTTTTTTTC	0.312																																						ENST00000552810.1																			1	Insertion - Frameshift(1)	p.I558fs*20(1)	central_nervous_system(1)	breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73	GRCh37	CD073590	CEP290	D	rs77980773	c.(1666-1668)tcgfs		centrosomal protein 290kDa																																				SO:0001589	frameshift_variant	80184				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	g.chr12:88512304_88512305insT	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.1667dupA	12.37:g.88512314_88512314dupT	ENSP00000448012:p.Ile556fs					CEP290_ENST00000309041.7_Frame_Shift_Ins_p.S558fs|CEP290_ENST00000397838.3_5'UTR	p.S556fs	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN			17	2009_2010	-			556					Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Frame_Shift_Ins	INS	ENST00000552810.1	37	c.1666_1667insA	CCDS55858.1																																																																																				0.312	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1	NM_025114		4	4						4	4	---	---	---	---
CHD8	57680	broad.mit.edu	37	14	21854023	21854025	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr14:21854023_21854025delGGT	ENST00000557364.1	-	38	7756_7758	c.7493_7495delACC	c.(7492-7497)cacccc>ccc	p.H2498del	SUPT16H_ENST00000555943.1_5'Flank|CHD8_ENST00000430710.3_In_Frame_Del_p.H2219del|SUPT16H_ENST00000216297.2_5'Flank|CHD8_ENST00000399982.2_In_Frame_Del_p.H2498del|RP11-524O1.4_ENST00000565098.1_RNA			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2498	His-rich.		Missing (in AUTS18). {ECO:0000269|PubMed:23160955}.		ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		tgggggtgggggtggtggtggtg	0.571																																						ENST00000399982.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(7492-7497)ccc>c		chromodomain helicase DNA binding protein 8			,	27,3385		5,17,1684					,	4.3	1.0		dbSNP_130	20	46,7158		4,38,3560	no	coding,coding	CHD8	NM_020920.3,NM_001170629.1	,	9,55,5244	A1A1,A1R,RR		0.6385,0.7913,0.6876	,	,		73,10543				SO:0001651	inframe_deletion	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21854023_21854025delGGT	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.7493_7495delACC	14.37:g.21854032_21854034delGGT	ENSP00000451601:p.His2498del					CHD8_ENST00000430710.3_In_Frame_Del_p.HP2221del|CHD8_ENST00000557364.1_In_Frame_Del_p.HP2500del	p.HP2500del	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	37	7557_7559	-	all_cancers(95;0.00121)		2500			His-rich.		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	In_Frame_Del	DEL	ENST00000557364.1	37	c.7493_7495delACC	CCDS53885.1																																																																																				0.571	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		2	4						2	4	---	---	---	---
OAZ1	4946	broad.mit.edu	37	19	2272779	2272779	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr19:2272779delC	ENST00000602676.2	+	5	589	c.510delC	c.(508-510)gacfs	p.D170fs	OAZ1_ENST00000322297.4_Frame_Shift_Del_p.D169fs|OAZ1_ENST00000583542.4_Frame_Shift_Del_p.D178fs|OAZ1_ENST00000588673.2_Frame_Shift_Del_p.D199fs|OAZ1_ENST00000582888.4_Frame_Shift_Del_p.D168fs			P54368	OAZ1_HUMAN	ornithine decarboxylase antizyme 1	170					cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|polyamine biosynthetic process (GO:0006596)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein catabolic process (GO:0045732)|regulation of cellular amino acid metabolic process (GO:0006521)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cytosol (GO:0005829)	ornithine decarboxylase inhibitor activity (GO:0008073)			endometrium(1)|lung(2)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	L-Ornithine(DB00129)	TGCGAGCCGACCATGTCTTCA	0.632																																						ENST00000583542.3																			0				endometrium(1)|lung(2)	3						c.(532-534)gafs		ornithine decarboxylase antizyme 1	L-Ornithine(DB00129)						16.0	19.0	18.0					19																	2272779		2054	4059	6113	SO:0001589	frameshift_variant	4946				polyamine biosynthetic process|regulation of cellular amino acid metabolic process	cytosol	ornithine decarboxylase inhibitor activity	g.chr19:2272779delC		CCDS58639.1	19p13.3	2008-07-17				ENSG00000104904			8095	protein-coding gene	gene with protein product	"""antizyme 1"""	601579		OAZ		7811704, 8954789	Standard	NM_004152		Approved	AZI, MGC138338	uc002lvk.3	P54368		ENST00000602676.2:c.510delC	19.37:g.2272779delC	ENSP00000473381:p.Asp170fs					OAZ1_ENST00000592727.1_3'UTR|OAZ1_ENST00000602676.1_Frame_Shift_Del_p.D170fs|OAZ1_ENST00000582888.3_Frame_Shift_Del_p.D168fs|OAZ1_ENST00000322297.4_Frame_Shift_Del_p.D169fs	p.D178fs			P54368	OAZ1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	613	+		Hepatocellular(1079;0.137)	170					O43382|Q14989|Q92595|Q9UPL9	Frame_Shift_Del	DEL	ENST00000602676.2	37	c.534delC	CCDS58639.1																																																																																				0.632	OAZ1-002	NOVEL	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467467.2	NM_004152		2	4						2	4	---	---	---	---
ATP5SL	55101	broad.mit.edu	37	19	41939275	41939276	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-E3-A3E5-01A-11D-A20C-08	TCGA-E3-A3E5-10A-01D-A20C-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4c3a335-7c74-45ed-8b36-50ce11f7ac8e	599a6a1a-9973-4054-acf4-d987bdda59c1	g.chr19:41939275_41939276delGA	ENST00000221943.9	-	5	502_503	c.497_498delTC	c.(496-498)ctcfs	p.L166fs	ATP5SL_ENST00000595425.1_Frame_Shift_Del_p.L139fs|ATP5SL_ENST00000301183.11_Intron|ATP5SL_ENST00000597457.1_Intron|ATP5SL_ENST00000590641.2_Frame_Shift_Del_p.L145fs|ATP5SL_ENST00000438807.3_Intron|ATP5SL_ENST00000592922.2_Frame_Shift_Del_p.L139fs|ATP5SL_ENST00000417807.3_Frame_Shift_Del_p.L172fs|ATP5SL_ENST00000589970.1_Intron	NM_018035.2	NP_060505.2	Q9NW81	AT5SL_HUMAN	ATP5S-like	166						mitochondrion (GO:0005739)				breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	11						AGAGGCGGCTGAGACACCAGTC	0.683																																						ENST00000221943.9																			0				breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	11						c.(496-498)cfs		ATP5S-like																																				SO:0001589	frameshift_variant	55101							g.chr19:41939275_41939276delGA	AK001103	CCDS33032.1, CCDS54269.1, CCDS54270.1, CCDS54271.1, CCDS59389.1, CCDS59390.1	19q13.2	2007-12-13				ENSG00000105341			25496	protein-coding gene	gene with protein product						12477932	Standard	NM_001167867		Approved	FLJ10241	uc002oqv.3	Q9NW81		ENST00000221943.9:c.497_498delTC	19.37:g.41939277_41939278delGA	ENSP00000221943:p.Leu166fs					ATP5SL_ENST00000301183.11_Intron|ATP5SL_ENST00000595425.1_Frame_Shift_Del_p.L139fs|ATP5SL_ENST00000589970.1_Intron|ATP5SL_ENST00000438807.3_Intron|ATP5SL_ENST00000597457.1_Intron|ATP5SL_ENST00000592922.2_Frame_Shift_Del_p.L139fs|ATP5SL_ENST00000417807.3_Frame_Shift_Del_p.L172fs|ATP5SL_ENST00000590641.2_Frame_Shift_Del_p.L145fs	p.L166fs	NM_018035.2	NP_060505.2	Q9NW81	AT5SL_HUMAN			5	502_503	-			166					B4DDC0|B4DMZ4|B4DP55|B4DXE8|F5H4W7|K7EMF6|Q96D43	Frame_Shift_Del	DEL	ENST00000221943.9	37	c.497_498delTC	CCDS33032.1																																																																																				0.683	ATP5SL-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460602.1	NM_018035		10	97						10	97	---	---	---	---
