#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
DNMT3A	1788	broad.mit.edu	37	2	25467186	25467186	+	Silent	SNP	C	C	T			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr2:25467186C>T	ENST00000264709.3	-	15	2026	c.1689G>A	c.(1687-1689)gtG>gtA	p.V563V	DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000321117.5_Silent_p.V563V|DNMT3A_ENST00000380746.4_Silent_p.V374V|DNMT3A_ENST00000402667.1_Silent_p.V340V	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	563	ADD. {ECO:0000255|PROSITE- ProRule:PRU00865}.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.V563V(1)|p.V374V(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAAGAGGTCCACACACTCCA	0.627			"""Mis, F, N, S"""		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"""Mis, F, N, S"""	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		2	Substitution - coding silent(2)	p.V563V(1)|p.V374V(1)	prostate(2)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(1687-1689)gtG>gtA		DNA (cytosine-5-)-methyltransferase 3 alpha							15.0	18.0	17.0					2																	25467186		2203	4297	6500	SO:0001819	synonymous_variant	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25467186C>T		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.1689G>A	2.37:g.25467186C>T						DNMT3A_ENST00000321117.5_Silent_p.V563V|DNMT3A_ENST00000380746.4_Silent_p.V374V|DNMT3A_ENST00000402667.1_Silent_p.V340V|DNMT3A_ENST00000474887.1_5'UTR	p.V563V	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			15	2026	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		563			ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Silent	SNP	ENST00000264709.3	37	c.1689G>A	CCDS33157.1																																																																																				0.627	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		8	27	8	27	---	---	---	---
CD8A	925	broad.mit.edu	37	2	87015654	87015654	+	Splice_Site	SNP	G	G	A			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr2:87015654G>A	ENST00000409511.2	-	8	1685	c.655C>T	c.(655-657)Cgg>Tgg	p.R219W	CD8A_ENST00000283635.3_Splice_Site_p.R219W|CD8A_ENST00000538832.1_Splice_Site_p.R260W|CD8A_ENST00000352580.3_Splice_Site_p.R182W|CD8A_ENST00000456996.2_Splice_Site_p.R182W|CD8A_ENST00000409781.1_Splice_Site_p.R182W	NM_001145873.1	NP_001139345.1	P01732	CD8A_HUMAN	CD8a molecule	219					antigen processing and presentation (GO:0019882)|cytotoxic T cell differentiation (GO:0045065)|defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of calcium-mediated signaling (GO:0050850)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|T cell mediated immunity (GO:0002456)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)	p.R219W(1)		lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						GAGACTCACCGGGGACATTTG	0.507																																						ENST00000409511.2																			1	Substitution - Missense(1)	p.R219W(1)	prostate(1)	lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						c.(655-657)Cgg>Tgg		CD8a molecule							55.0	53.0	54.0					2																	87015654		2203	4300	6503	SO:0001630	splice_region_variant	925				antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding	g.chr2:87015654G>A		CCDS1992.1, CCDS1993.1	2p12	2014-09-17	2006-03-28		ENSG00000153563	ENSG00000153563		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1706	protein-coding gene	gene with protein product		186910	"""CD8 antigen, alpha polypeptide (p32)"", ""T-cell surface glycoprotein CD8 alpha chain"""	CD8		1541829	Standard	NM_171827		Approved		uc002sru.3	P01732	OTTHUMG00000130265	ENST00000409511.2:c.656+1C>T	2.37:g.87015654G>A						CD8A_ENST00000409781.1_Splice_Site_p.R182W|CD8A_ENST00000352580.3_Splice_Site_p.R182W|CD8A_ENST00000283635.3_Splice_Site_p.R219W|CD8A_ENST00000456996.2_Splice_Site_p.R182W|CD8A_ENST00000538832.1_Splice_Site_p.R260W	p.R219W	NM_001145873.1	NP_001139345.1	P01732	CD8A_HUMAN			8	1685	-			219					B4DT80|D6W5M8|Q13970|Q4ZG17	Splice_Site	SNP	ENST00000409511.2	37	c.655C>T	CCDS1992.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.733376	0.69189	.	.	ENSG00000153563	ENST00000456996;ENST00000352580;ENST00000283635;ENST00000409511;ENST00000442577;ENST00000538832;ENST00000409781	D;D;D;D;D;D	0.86497	-2.13;-2.13;-1.55;-1.55;-1.61;-1.53	4.95	2.55	0.30701	.	0.109676	0.64402	D	0.000010	D	0.92443	0.7601	M	0.83012	2.62	0.42552	D	0.993116	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.998	D	0.91550	0.5256	10	0.87932	D	0	-33.8792	9.4433	0.38681	0.0:0.0:0.3536:0.6464	.	260;182;219	B4DT80;P01732-2;P01732	.;.;CD8A_HUMAN	W	182;182;219;219;204;260;182	ENSP00000398868:R182W;ENSP00000321631:R182W;ENSP00000283635:R219W;ENSP00000386559:R219W;ENSP00000438371:R260W;ENSP00000387314:R182W	ENSP00000283635:R219W	R	-	1	2	CD8A	86869165	0.994000	0.37717	0.996000	0.52242	0.864000	0.49448	0.752000	0.26362	0.450000	0.26774	-1.527000	0.00925	CGG		0.507	CD8A-006	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330784.3	NM_001768	Missense_Mutation	5	21	5	21	---	---	---	---
TUBA3D	113457	broad.mit.edu	37	2	132237011	132237011	+	Silent	SNP	G	G	C			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr2:132237011G>C	ENST00000321253.6	+	3	464	c.357G>C	c.(355-357)ctG>ctC	p.L119L	TUBA3D_ENST00000409047.2_3'UTR	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	119					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.L119L(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		ACCTAGTCCTGGACCGGATCC	0.498																																					Ovarian(137;2059 2432 35543 39401)	ENST00000321253.6																			1	Substitution - coding silent(1)	p.L119L(1)	prostate(1)	breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32						c.(355-357)ctG>ctC		tubulin, alpha 3d							152.0	146.0	148.0					2																	132237011		2203	4297	6500	SO:0001819	synonymous_variant	113457				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr2:132237011G>C	K03460	CCDS33290.1	2q21.1	2007-03-16			ENSG00000075886	ENSG00000075886		"""Tubulins"""	24071	protein-coding gene	gene with protein product	"""alpha-tubulin isotype H2-alpha"""					3785200	Standard	NM_080386		Approved	H2-ALPHA	uc002tsu.4	Q13748	OTTHUMG00000153600	ENST00000321253.6:c.357G>C	2.37:g.132237011G>C						TUBA3D_ENST00000409047.2_3'UTR	p.L119L	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	3	464	+			119					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Silent	SNP	ENST00000321253.6	37	c.357G>C	CCDS33290.1																																																																																				0.498	TUBA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331800.2	NM_080386		30	190	30	190	---	---	---	---
GPR78	27201	broad.mit.edu	37	4	8584289	8584289	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr4:8584289C>T	ENST00000382487.4	+	2	1117	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	234					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R234W(1)		central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						CCAGCAGAAGCGGCGCCGCCA	0.637																																						ENST00000382487.4																			1	Substitution - Missense(1)	p.R234W(1)	prostate(1)	central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						c.(700-702)Cgg>Tgg		G protein-coupled receptor 78							98.0	85.0	89.0					4																	8584289		2203	4300	6503	SO:0001583	missense	27201				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr4:8584289C>T	AF411107	CCDS3403.1	4p16.1	2012-08-21			ENSG00000155269	ENSG00000155269		"""GPCR / Class A : Orphans"""	4528	protein-coding gene	gene with protein product		606921				11574155	Standard	NM_080819		Approved		uc003glk.4	Q96P69	OTTHUMG00000128483	ENST00000382487.4:c.700C>T	4.37:g.8584289C>T	ENSP00000371927:p.Arg234Trp					GPR78_ENST00000509216.1_3'UTR	p.R234W	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN			2	1117	+			234					Q8NGV3	Missense_Mutation	SNP	ENST00000382487.4	37	c.700C>T	CCDS3403.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.100099	0.37048	.	.	ENSG00000155269	ENST00000382487	T	0.42131	0.98	2.43	-2.1	0.07210	GPCR, rhodopsin-like superfamily (1);	0.244402	0.30556	U	0.009370	T	0.43188	0.1236	L	0.39898	1.24	0.09310	N	0.999998	D	0.89917	1.0	D	0.68621	0.959	T	0.40942	-0.9536	10	0.44086	T	0.13	.	4.3152	0.10990	0.5683:0.2058:0.0:0.2259	.	234	Q96P69	GPR78_HUMAN	W	234	ENSP00000371927:R234W	ENSP00000371927:R234W	R	+	1	2	GPR78	8635189	0.719000	0.27986	0.000000	0.03702	0.002000	0.02628	-0.015000	0.12634	-1.198000	0.02669	-0.309000	0.09137	CGG		0.637	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359201.1			25	112	25	112	---	---	---	---
ANKH	56172	broad.mit.edu	37	5	14711313	14711313	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr5:14711313T>C	ENST00000284268.6	-	12	1802	c.1472A>G	c.(1471-1473)aAt>aGt	p.N491S	ANKH_ENST00000535119.1_Missense_Mutation_p.N293S	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	491					locomotory behavior (GO:0007626)|regulation of bone mineralization (GO:0030500)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	inorganic diphosphate transmembrane transporter activity (GO:0030504)|inorganic phosphate transmembrane transporter activity (GO:0005315)|phosphate ion transmembrane transporter activity (GO:0015114)	p.N491S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GCCTTATTCATTCTCCTCTCT	0.532																																						ENST00000284268.6																			1	Substitution - Missense(1)	p.N491S(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(1471-1473)aAt>aGt		ANKH inorganic pyrophosphate transport regulator							272.0	229.0	244.0					5																	14711313		2203	4300	6503	SO:0001583	missense	56172				locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity	g.chr5:14711313T>C	AF274753	CCDS3885.1	5p15.2	2013-06-19	2013-06-19		ENSG00000154122	ENSG00000154122			15492	protein-coding gene	gene with protein product		605145	"""ankylosis, progressive (mouse) homolog"", ""craniometaphyseal dysplasia, Jackson type (dominant)"", ""ankylosis, progressive homolog (mouse)"""	CCAL2, CMDJ		10894769, 12297989, 11326338	Standard	NM_054027		Approved	HANK, ANK, CPPDD	uc003jfm.4	Q9HCJ1	OTTHUMG00000090539	ENST00000284268.6:c.1472A>G	5.37:g.14711313T>C	ENSP00000284268:p.Asn491Ser					ANKH_ENST00000535119.1_Missense_Mutation_p.N293S	p.N491S	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN			12	1802	-			491					B2RCA7|B3KMG4|D3DTD4|Q9NQW2	Missense_Mutation	SNP	ENST00000284268.6	37	c.1472A>G	CCDS3885.1	.	.	.	.	.	.	.	.	.	.	T	12.52	1.962263	0.34659	.	.	ENSG00000154122	ENST00000535119;ENST00000284268	D;D	0.95307	-3.1;-3.67	5.17	-0.144	0.13440	.	0.988098	0.08285	N	0.969322	D	0.83972	0.5370	N	0.08118	0	0.29232	N	0.873186	B	0.02656	0.0	B	0.01281	0.0	T	0.72050	-0.4407	10	0.13470	T	0.59	-43.6996	5.2204	0.15366	0.0:0.3084:0.1452:0.5464	.	491	Q9HCJ1	ANKH_HUMAN	S	293;491	ENSP00000442524:N293S;ENSP00000284268:N491S	ENSP00000284268:N491S	N	-	2	0	ANKH	14764313	0.371000	0.25056	0.039000	0.18376	0.998000	0.95712	0.667000	0.25112	-0.251000	0.09542	0.533000	0.62120	AAT		0.532	ANKH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207063.1	NM_054027		51	176	51	176	---	---	---	---
MRPS30	10884	broad.mit.edu	37	5	44809374	44809374	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr5:44809374C>G	ENST00000507110.1	+	1	348	c.310C>G	c.(310-312)Cgc>Ggc	p.R104G	RP11-53O19.1_ENST00000508945.1_RNA|RP11-53O19.1_ENST00000503179.1_RNA|RP11-53O19.1_ENST00000505637.1_RNA|RP11-53O19.1_ENST00000505401.1_RNA|RP11-53O19.1_ENST00000505302.1_RNA|RP11-53O19.1_ENST00000514597.1_RNA|RP11-53O19.1_ENST00000508123.1_RNA|RP11-53O19.1_ENST00000503452.1_RNA	NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	104					apoptotic process (GO:0006915)|translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.R104G(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					GAATGCCGACCGCTGGTACCA	0.617																																						ENST00000507110.1																			2	Substitution - Missense(2)	p.R104G(2)	prostate(2)	central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20						c.(310-312)Cgc>Ggc		mitochondrial ribosomal protein S30							31.0	33.0	32.0					5																	44809374		2203	4300	6503	SO:0001583	missense	10884				apoptosis|translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr5:44809374C>G	AF146192	CCDS3951.1	5q11	2012-09-13		2001-11-09	ENSG00000112996	ENSG00000112996		"""Mitochondrial ribosomal proteins / small subunits"""	8769	protein-coding gene	gene with protein product		611991		PDCD9		10640817, 11279123	Standard	NM_016640		Approved	PAP	uc003joh.3	Q9NP92	OTTHUMG00000096967	ENST00000507110.1:c.310C>G	5.37:g.44809374C>G	ENSP00000424328:p.Arg104Gly						p.R104G	NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN			1	348	+	Lung NSC(6;8.08e-07)		104					Q96I91|Q96Q19|Q9H0P8|Q9NSF9|Q9NZ76	Missense_Mutation	SNP	ENST00000507110.1	37	c.310C>G	CCDS3951.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.375777	0.61735	.	.	ENSG00000112996	ENST00000507110	T	0.19105	2.17	5.25	5.25	0.73442	.	0.095328	0.64402	D	0.000001	T	0.47229	0.1434	M	0.68952	2.095	0.58432	D	0.999997	D	0.89917	1.0	D	0.79108	0.992	T	0.32025	-0.9922	10	0.54805	T	0.06	-1.223	19.3941	0.94598	0.0:1.0:0.0:0.0	.	104	Q9NP92	RT30_HUMAN	G	104	ENSP00000424328:R104G	ENSP00000424328:R104G	R	+	1	0	MRPS30	44845131	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.641000	0.37197	2.885000	0.99019	0.655000	0.94253	CGC		0.617	MRPS30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214033.2	NM_016640		5	26	5	26	---	---	---	---
CTNNAL1	8727	broad.mit.edu	37	9	111735029	111735029	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr9:111735029C>T	ENST00000325551.4	-	9	1359	c.1273G>A	c.(1273-1275)Gga>Aga	p.G425R	CTNNAL1_ENST00000488130.1_5'UTR|CTNNAL1_ENST00000374595.4_Missense_Mutation_p.G425R|CTNNAL1_ENST00000325580.6_Intron	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	425					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)	p.G425R(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		CCTTCTACTCCAGTAAGTTTT	0.398																																						ENST00000374595.4																			1	Substitution - Missense(1)	p.G425R(1)	prostate(1)	cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25						c.(1273-1275)Gga>Aga		catenin (cadherin-associated protein), alpha-like 1							111.0	112.0	112.0					9																	111735029		2203	4300	6503	SO:0001583	missense	8727				cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity	g.chr9:111735029C>T	AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"""alpha-catulin"", ""alpha2-catulin"""	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.1273G>A	9.37:g.111735029C>T	ENSP00000320434:p.Gly425Arg					CTNNAL1_ENST00000325551.4_Missense_Mutation_p.G425R|CTNNAL1_ENST00000488130.1_5'UTR|CTNNAL1_ENST00000325580.6_Intron	p.G425R			Q9UBT7	CTNL1_HUMAN		STAD - Stomach adenocarcinoma(157;0.0768)	9	1352	-			425					B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Missense_Mutation	SNP	ENST00000325551.4	37	c.1273G>A	CCDS6775.1	.	.	.	.	.	.	.	.	.	.	C	34	5.317646	0.95682	.	.	ENSG00000119326	ENST00000374595;ENST00000325551	T;T	0.47528	0.84;0.84	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.69797	0.3151	M	0.70595	2.14	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.991;1.0	T	0.69767	-0.5056	10	0.72032	D	0.01	-20.019	18.3732	0.90420	0.0:1.0:0.0:0.0	.	425;425;425	B2RBI4;Q9UBT7-2;Q9UBT7	.;.;CTNL1_HUMAN	R	425	ENSP00000363723:G425R;ENSP00000320434:G425R	ENSP00000320434:G425R	G	-	1	0	CTNNAL1	110774850	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.336000	0.79245	2.941000	0.99782	0.655000	0.94253	GGA		0.398	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1	NM_003798		29	107	29	107	---	---	---	---
AKAP3	10566	broad.mit.edu	37	12	4736294	4736294	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr12:4736294T>C	ENST00000545990.2	-	5	2298	c.1774A>G	c.(1774-1776)Agt>Ggt	p.S592G	RP11-500M8.7_ENST00000536588.1_Intron|AKAP3_ENST00000228850.1_Missense_Mutation_p.S592G	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	592					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)	p.S592G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						AAGAAAACACTCCTTAGGTCC	0.468																																						ENST00000545990.2																			1	Substitution - Missense(1)	p.S592G(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						c.(1774-1776)Agt>Ggt		A kinase (PRKA) anchor protein 3							81.0	80.0	80.0					12																	4736294		2203	4300	6503	SO:0001583	missense	10566				acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding	g.chr12:4736294T>C	U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"""A-kinase anchor proteins"""	373	protein-coding gene	gene with protein product	"""Fibrous Sheath Protein of 95 kDa"", ""cancer/testis antigen 82"""	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.1774A>G	12.37:g.4736294T>C	ENSP00000440994:p.Ser592Gly					RP11-500M8.7_ENST00000536588.1_Intron|AKAP3_ENST00000228850.1_Missense_Mutation_p.S592G	p.S592G	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN			5	2298	-			592					O75945|Q86X01|Q9UM61	Missense_Mutation	SNP	ENST00000545990.2	37	c.1774A>G	CCDS8531.1	.	.	.	.	.	.	.	.	.	.	T	16.83	3.231331	0.58777	.	.	ENSG00000111254	ENST00000228850;ENST00000545990	T;T	0.08807	3.05;3.05	6.07	4.94	0.65067	A-kinase anchor 110kDa, C-terminal (1);	0.068148	0.64402	D	0.000007	T	0.12178	0.0296	M	0.68317	2.08	0.35289	D	0.782069	P	0.41978	0.767	B	0.41723	0.365	T	0.09015	-1.0694	10	0.62326	D	0.03	-23.3318	9.4104	0.38489	0.0:0.0803:0.0:0.9197	.	592	O75969	AKAP3_HUMAN	G	592	ENSP00000228850:S592G;ENSP00000440994:S592G	ENSP00000228850:S592G	S	-	1	0	AKAP3	4606555	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	2.829000	0.48128	2.326000	0.78906	0.533000	0.62120	AGT		0.468	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398911.2	NM_006422		21	92	21	92	---	---	---	---
MYL6	4637	broad.mit.edu	37	12	56552380	56552380	+	Intron	SNP	G	G	A			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr12:56552380G>A	ENST00000550697.1	+	2	244				MYL6_ENST00000549566.1_Silent_p.Q65Q|MYL6_ENST00000548293.1_Intron|MYL6_ENST00000293422.5_Intron|MYL6_ENST00000549017.1_Intron|MYL6_ENST00000548400.1_Intron|MYL6_ENST00000348108.4_Intron|RP11-603J24.14_ENST00000548731.1_RNA|MYL6_ENST00000547649.1_Intron|MYL6_ENST00000547408.1_Intron|MYL6_ENST00000551589.1_Intron|MYL6_ENST00000548580.1_Intron|MYL6_ENST00000536128.1_Silent_p.Q65Q	NM_021019.4	NP_066299.2	P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and non-muscle						ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle tissue development (GO:0007519)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|unconventional myosin complex (GO:0016461)|vesicle (GO:0031982)	actin-dependent ATPase activity (GO:0030898)|calcium ion binding (GO:0005509)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			TTGTGGGTCAGAGTTTGTGGG	0.562																																						ENST00000536128.1																			0				large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7						c.(193-195)caG>caA		myosin, light chain 6, alkali, smooth muscle and non-muscle																																				SO:0001627	intron_variant	4637				axon guidance|muscle filament sliding|skeletal muscle tissue development	cytosol|unconventional myosin complex	actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle	g.chr12:56552380G>A	AB046613	CCDS8906.1, CCDS31834.1	12q13.13	2013-01-10	2006-09-29			ENSG00000092841		"""Myosins / Light chain"", ""EF-hand domain containing"""	7587	protein-coding gene	gene with protein product		609931	"""myosin, light polypeptide 6, alkali, smooth muscle and non-muscle"""			8188229, 2304459, 2722814	Standard	NM_021019		Approved	ESMLC, MLC3NM, MLC1SM	uc001sjx.2	P60660		ENST00000550697.1:c.4-88G>A	12.37:g.56552380G>A						MYL6_ENST00000548400.1_Intron|MYL6_ENST00000547649.1_Intron|MYL6_ENST00000293422.5_Intron|MYL6_ENST00000548580.1_Intron|MYL6_ENST00000551589.1_Intron|MYL6_ENST00000549017.1_Intron|MYL6_ENST00000549566.1_Silent_p.Q65Q|MYL6_ENST00000550697.1_Intron|MYL6_ENST00000548293.1_Intron|MYL6_ENST00000348108.4_Intron|MYL6_ENST00000547408.1_Intron	p.Q65Q			P60660	MYL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.0979)		1	235	+			0					P16475|P24572|P24573|Q12790|Q561V9|Q6IAZ0|Q6IPY5	Silent	SNP	ENST00000550697.1	37	c.195G>A	CCDS8906.1																																																																																				0.562	MYL6-003	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000407928.3			31	142	31	142	---	---	---	---
CLEC18B	497190	broad.mit.edu	37	16	74455141	74455141	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr16:74455141G>A	ENST00000339953.5	-	1	149	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W	RP11-252A24.5_ENST00000566506.1_RNA|RP11-252A24.5_ENST00000567148.1_RNA	NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	10						extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)	p.R10W(1)		endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGATGCCCCCGGCCAGGGGAG	0.677																																						ENST00000339953.5																			1	Substitution - Missense(1)	p.R10W(1)	prostate(1)	endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(28-30)Cgg>Tgg		C-type lectin domain family 18, member B							33.0	42.0	39.0					16																	74455141		2196	4292	6488	SO:0001583	missense	497190					extracellular region	sugar binding	g.chr16:74455141G>A	AY358373	CCDS32484.1	16q22.3	2010-04-27	2009-03-10	2009-03-10		ENSG00000140839		"""C-type lectin domain containing"""	33849	protein-coding gene	gene with protein product							Standard	NM_001011880		Approved		uc002fct.3	Q6UXF7		ENST00000339953.5:c.28C>T	16.37:g.74455141G>A	ENSP00000341051:p.Arg10Trp						p.R10W	NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN			1	149	-			10					B4DF90	Missense_Mutation	SNP	ENST00000339953.5	37	c.28C>T	CCDS32484.1	.	.	.	.	.	.	.	.	.	.	g	10.09	1.253756	0.22965	.	.	ENSG00000140839	ENST00000429489;ENST00000339953;ENST00000268492;ENST00000425714	T	0.23754	1.89	2.53	-0.718	0.11205	.	2.659970	0.01411	N	0.014018	T	0.14356	0.0347	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.001;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.25813	-1.0121	10	0.49607	T	0.09	.	5.9628	0.19308	0.3058:0.0:0.6942:0.0	.	10;10;10	Q6UXF7-2;C9JSV1;Q6UXF7	.;.;CL18B_HUMAN	W	10	ENSP00000341051:R10W	ENSP00000268492:R10W	R	-	1	2	CLEC18B	73012642	0.000000	0.05858	0.002000	0.10522	0.359000	0.29487	-0.054000	0.11826	-0.107000	0.12088	0.423000	0.28283	CGG		0.677	CLEC18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434697.1	NM_001011880		12	115	12	115	---	---	---	---
ENTHD2	146705	broad.mit.edu	37	17	79207799	79207799	+	Silent	SNP	C	C	T			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr17:79207799C>T	ENST00000300714.3	-	5	414	c.357G>A	c.(355-357)aaG>aaA	p.K119K	AC027601.1_ENST00000569559.1_RNA|AC027601.1_ENST00000575922.1_RNA|ENTHD2_ENST00000374769.2_5'UTR	NM_144679.2	NP_653280.1	Q96N21	AP4AT_HUMAN	ENTH domain containing 2	119	ENTH.					cytoplasmic vesicle (GO:0031410)		p.K119K(1)									CCGCGCGAACCTTCTGGTACA	0.662																																						ENST00000300714.3																			1	Substitution - coding silent(1)	p.K119K(1)	prostate(1)								c.(355-357)aaG>aaA		ENTH domain containing 2							24.0	26.0	25.0					17																	79207799		2203	4299	6502	SO:0001819	synonymous_variant	146705							g.chr17:79207799C>T	AK056090	CCDS11779.1	17q25.3	2012-07-18	2012-07-18	2012-07-18	ENSG00000167302	ENSG00000167302			26458	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 56"""	C17orf56			Standard	NM_144679		Approved	FLJ31528	uc002jzu.2	Q96N21	OTTHUMG00000177866	ENST00000300714.3:c.357G>A	17.37:g.79207799C>T						ENTHD2_ENST00000374769.2_5'UTR	p.K119K	NM_144679.2	NP_653280.1					5	414	-								Q6ZQU0|Q6ZSQ9	Silent	SNP	ENST00000300714.3	37	c.357G>A	CCDS11779.1																																																																																				0.662	ENTHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439315.1	NM_144679		4	39	4	39	---	---	---	---
CSE1L	1434	broad.mit.edu	37	20	47692015	47692015	+	Silent	SNP	C	C	T			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr20:47692015C>T	ENST00000262982.2	+	12	1416	c.1293C>T	c.(1291-1293)atC>atT	p.I431I	CSE1L_ENST00000396192.3_Silent_p.I375I|CSE1L_ENST00000542325.1_Silent_p.I214I	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	CSE1 chromosome segregation 1-like (yeast)	431					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	importin-alpha export receptor activity (GO:0008262)	p.I431I(1)		breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			ATGCAGCCATCTACCTAGTGA	0.403																																						ENST00000262982.2																			1	Substitution - coding silent(1)	p.I431I(1)	prostate(1)	breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35						c.(1291-1293)atC>atT		CSE1 chromosome segregation 1-like (yeast)							116.0	107.0	110.0					20																	47692015		2203	4300	6503	SO:0001819	synonymous_variant	1434				apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity	g.chr20:47692015C>T	U33286	CCDS13412.1, CCDS58773.1	20q13	2013-05-01	2001-11-28		ENSG00000124207	ENSG00000124207		"""Exportins"""	2431	protein-coding gene	gene with protein product	"""cellular apoptosis susceptibility"""	601342	"""chromosome segregation 1 (yeast homolog)-like"""			8963895, 7479798	Standard	NM_001316		Approved	CAS, XPO2, CSE1	uc002xty.4	P55060	OTTHUMG00000033046	ENST00000262982.2:c.1293C>T	20.37:g.47692015C>T						CSE1L_ENST00000396192.3_Silent_p.I375I|CSE1L_ENST00000542325.1_Silent_p.I214I	p.I431I	NM_001256135.1|NM_001316.3	NP_001243064.1|NP_001307.2	P55060	XPO2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)		12	1416	+			431					A3RLL6|B2R5T4|E1P5Y0|F8W904|O75432|Q32M40|Q9H5B7|Q9NTS0|Q9UP98|Q9UP99|Q9UPA0	Silent	SNP	ENST00000262982.2	37	c.1293C>T	CCDS13412.1																																																																																				0.403	CSE1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080345.2	NM_001316		4	100	4	100	---	---	---	---
PICK1	9463	broad.mit.edu	37	22	38467745	38467745	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr22:38467745C>T	ENST00000404072.3	+	8	897	c.550C>T	c.(550-552)Cac>Tac	p.H184Y	PICK1_ENST00000356976.3_Missense_Mutation_p.H184Y|RP5-1039K5.13_ENST00000445483.1_RNA	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	184	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				ATP catabolic process (GO:0006200)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|dendritic spine maintenance (GO:0097062)|dendritic spine organization (GO:0097061)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|glial cell development (GO:0021782)|long term synaptic depression (GO:0060292)|monoamine transport (GO:0015844)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|neuronal ion channel clustering (GO:0045161)|positive regulation of receptor internalization (GO:0002092)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|protein targeting (GO:0006605)|receptor clustering (GO:0043113)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endocytic vesicle membrane (GO:0030666)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein kinase C binding (GO:0005080)|receptor binding (GO:0005102)	p.H184Y(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					GTCGCAGACTCACCGGGGTAA	0.617																																						ENST00000404072.3																			1	Substitution - Missense(1)	p.H184Y(1)	prostate(1)	cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(550-552)Cac>Tac		protein interacting with PRKCA 1							81.0	74.0	77.0					22																	38467745		2203	4300	6503	SO:0001583	missense	9463				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding	g.chr22:38467745C>T	AL049654	CCDS13965.1	22q13.1	2006-02-14	2006-02-14	2006-02-14	ENSG00000100151	ENSG00000100151			9394	protein-coding gene	gene with protein product		605926	"""protein kinase C, alpha binding protein"", ""protein interacting with PRKCA"""	PRKCABP		10340301, 10591208	Standard	XM_006724377		Approved	dJ1039K5, MGC15204	uc003aus.3	Q9NRD5	OTTHUMG00000151159	ENST00000404072.3:c.550C>T	22.37:g.38467745C>T	ENSP00000385205:p.His184Tyr					RP5-1039K5.13_ENST00000445483.1_RNA|PICK1_ENST00000356976.3_Missense_Mutation_p.H184Y	p.H184Y	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN			8	897	+	Melanoma(58;0.045)		184			AH.		B3KS52|O95906	Missense_Mutation	SNP	ENST00000404072.3	37	c.550C>T	CCDS13965.1	.	.	.	.	.	.	.	.	.	.	C	10.92	1.487317	0.26686	.	.	ENSG00000100151	ENST00000404072;ENST00000424694;ENST00000356976	T;T;T	0.76316	-1.01;-1.01;-1.01	5.18	5.18	0.71444	Arfaptin-like (3);	0.097314	0.64402	D	0.000001	T	0.65943	0.2740	N	0.11064	0.09	0.80722	D	1	B	0.31752	0.338	B	0.41440	0.357	T	0.61729	-0.7003	10	0.02654	T	1	-22.6937	19.0865	0.93204	0.0:1.0:0.0:0.0	.	184	Q9NRD5	PICK1_HUMAN	Y	184	ENSP00000385205:H184Y;ENSP00000398141:H184Y;ENSP00000349465:H184Y	ENSP00000349465:H184Y	H	+	1	0	PICK1	36797691	1.000000	0.71417	0.944000	0.38274	0.988000	0.76386	6.333000	0.72939	2.603000	0.88011	0.655000	0.94253	CAC		0.617	PICK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321569.2	NM_012407		17	106	17	106	---	---	---	---
MT-CO1	4512	broad.mit.edu	37	M	3063	3063	+	5'Flank	SNP	G	G	A			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chrM:3063G>A	ENST00000361624.2	+	0	0				MT-TM_ENST00000387377.1_RNA|MT-ND2_ENST00000361453.3_5'Flank|MT-ND1_ENST00000361390.2_5'Flank|MT-TA_ENST00000387392.1_RNA|MT-TI_ENST00000387365.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TF_ENST00000387314.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I						aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|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 IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						AAAGTCCTACGTGATCTGAGT	0.448																																						ENST00000387347.2																			0																																																	SO:0001631	upstream_gene_variant	100616263							g.chrM:3063G>A			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395			M.37:g.3063G>A	Exception_encountered							NR_039705.1						0	1393	+								Q34770	RNA	SNP	ENST00000361624.2	37																																																																																						0.448	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024028		9	26	9	26	---	---	---	---
MT-ND5	4540	broad.mit.edu	37	M	12773	12773	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chrM:12773G>A	ENST00000361567.2	+	1	437	c.437G>A	c.(436-438)gGc>gAc	p.G146D	MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TG_ENST00000387429.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-TR_ENST00000387439.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	146			G -> D. {ECO:0000269|PubMed:1757091}.		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						CGGCTGAGAGGGCGTAGGAAT	0.418																																						ENST00000361567.2																			0				breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						c.(436-438)gGc>gAc		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:12773G>A			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.437G>A	M.37:g.12773G>A	ENSP00000354813:p.Gly146Asp						p.G146D			P03915	NU5M_HUMAN			1	437	+			146		G -> D.			Q34773|Q8WCY3	Missense_Mutation	SNP	ENST00000361567.2	37	c.437G>A																																																																																					0.418	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024036		6	20	6	20	---	---	---	---
TBC1D13	54662	broad.mit.edu	37	9	131553912	131553912	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr9:131553912delG	ENST00000372648.5	+	5	390	c.240delG	c.(238-240)cagfs	p.Q80fs	TBC1D13_ENST00000466056.1_3'UTR|TBC1D13_ENST00000223865.8_Frame_Shift_Del_p.Q80fs|TBC1D13_ENST00000539497.1_Intron	NM_018201.3	NP_060671.3	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	80	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						TGATCATCCAGCCTGGCATTG	0.552																																						ENST00000372648.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						c.(238-240)cagfs		TBC1 domain family, member 13							102.0	90.0	94.0					9																	131553912		2203	4300	6503	SO:0001589	frameshift_variant	54662					intracellular	Rab GTPase activator activity	g.chr9:131553912delG	AK001605	CCDS6911.1, CCDS69677.1	9q34.13	2013-07-09			ENSG00000107021	ENSG00000107021			25571	protein-coding gene	gene with protein product						22762500	Standard	XM_005252060		Approved	FLJ10743	uc010myj.3	Q9NVG8	OTTHUMG00000020760	ENST00000372648.5:c.240delG	9.37:g.131553912delG	ENSP00000361731:p.Gln80fs					TBC1D13_ENST00000539497.1_Intron|TBC1D13_ENST00000223865.8_Frame_Shift_Del_p.Q80fs|TBC1D13_ENST00000466056.1_3'UTR	p.Q80fs	NM_018201.3	NP_060671.3	Q9NVG8	TBC13_HUMAN			5	390	+			80			Rab-GAP TBC.		A7E2E7|B3KW04|B9EGJ8|Q5T270|Q5T271	Frame_Shift_Del	DEL	ENST00000372648.5	37	c.240delG	CCDS6911.1																																																																																				0.552	TBC1D13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054496.1	NM_018201		14	67	14	67	---	---	---	---
TBX3	6926	broad.mit.edu	37	12	115114119	115114120	+	Splice_Site	DEL	TT	TT	-			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr12:115114119_115114120delTT	ENST00000257566.3	-	6	1486_1487	c.1097_1098delAA	c.(1096-1098)aaa>a	p.K366fs	TBX3_ENST00000349155.2_Splice_Site_p.K346fs	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	366					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		ATGGTTTACCTTTGAGGTTCGA	0.545																																						ENST00000349155.2																			0				breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(1036-1038)aaa>a		T-box 3																																				SO:0001630	splice_region_variant	6926				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding	g.chr12:115114119_115114120delTT	BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.1099+1AA>-	12.37:g.115114119_115114120delTT						TBX3_ENST00000257566.3_Splice_Site_p.K366fs	p.K346fs	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0574)	5	2000_2001	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		366					Q8TB20|Q9UKF8	Splice_Site	DEL	ENST00000257566.3	37	c.1037_1038delAA	CCDS9176.1																																																																																				0.545	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996	Frame_Shift_Del	14	91	14	91	---	---	---	---
VPS13C	54832	broad.mit.edu	37	15	62214732	62214734	+	In_Frame_Del	DEL	ACA	ACA	-			TCGA-EJ-5501-01A-01D-1576-08	TCGA-EJ-5501-10A-01D-1577-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fab0baa4-2ef4-46d7-a5c1-33592870967f	d259fcfd-635d-4ba9-9b74-ba6a211a00c5	g.chr15:62214732_62214734delACA	ENST00000261517.5	-	54	6910_6912	c.6837_6839delTGT	c.(6835-6840)gttgta>gta	p.2279_2280VV>V	VPS13C_ENST00000249837.3_In_Frame_Del_p.2236_2237VV>V|VPS13C_ENST00000395898.3_In_Frame_Del_p.2236_2237VV>V|VPS13C_ENST00000395896.4_In_Frame_Del_p.2279_2280VV>V	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AATGGATTCTACAACAACACCAC	0.365																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(6835-6840)gttgta>gta		vacuolar protein sorting 13 homolog C (S. cerevisiae)																																				SO:0001651	inframe_deletion	54832				protein localization			g.chr15:62214732_62214734delACA	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.6837_6839delTGT	15.37:g.62214738_62214740delACA	ENSP00000261517:p.Val2280del					VPS13C_ENST00000249837.3_In_Frame_Del_p.2236_2237VV>V|VPS13C_ENST00000395896.4_In_Frame_Del_p.2279_2280VV>V|VPS13C_ENST00000395898.3_In_Frame_Del_p.2236_2237VV>V	p.2279_2280VV>V	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			54	6910_6912	-			2279						In_Frame_Del	DEL	ENST00000261517.5	37	c.6837_6839delTGT	CCDS32257.1																																																																																				0.365	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		25	165	25	165	---	---	---	---
