#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
S100A8	6279	broad.mit.edu	37	1	153362715	153362715	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr1:153362715T>C	ENST00000368733.3	-	3	315	c.146A>G	c.(145-147)aAg>aGg	p.K49R	S100A8_ENST00000477801.1_5'UTR|S100A8_ENST00000368732.1_Missense_Mutation_p.K49R	NM_002964.4	NP_002955.2	P05109	S10A8_HUMAN	S100 calcium binding protein A8	49	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|acute inflammatory response (GO:0002526)|autophagy (GO:0006914)|chemokine production (GO:0032602)|chronic inflammatory response (GO:0002544)|cytokine production (GO:0001816)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|neutrophil aggregation (GO:0070488)|neutrophil chemotaxis (GO:0030593)|positive regulation of cell growth (GO:0030307)|positive regulation of inflammatory response (GO:0050729)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of cytoskeleton organization (GO:0051493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to zinc ion (GO:0010043)|sequestering of zinc ion (GO:0032119)|wound healing (GO:0042060)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonic acid binding (GO:0050544)|calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|RAGE receptor binding (GO:0050786)|Toll-like receptor 4 binding (GO:0035662)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTCTGCACCCTTTTTCTGTCA	0.507																																						ENST00000368733.3																			0				breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4						c.(145-147)aAg>aGg		S100 calcium binding protein A8							115.0	115.0	115.0					1																	153362715		2203	4300	6503	SO:0001583	missense	6279				chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding	g.chr1:153362715T>C	BC005928	CCDS1038.1	1q12-q22	2013-01-10	2006-09-11		ENSG00000143546	ENSG00000143546		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10498	protein-coding gene	gene with protein product		123885	"""S100 calcium-binding protein A8 (calgranulin A)"", ""S100 calcium binding protein A8 (calgranulin A)"""	CAGA, CFAG			Standard	NM_002964		Approved	P8, MRP8, 60B8AG, CGLA	uc001fbs.3	P05109	OTTHUMG00000013124	ENST00000368733.3:c.146A>G	1.37:g.153362715T>C	ENSP00000357722:p.Lys49Arg					S100A8_ENST00000477801.1_5'UTR|S100A8_ENST00000368732.1_Missense_Mutation_p.K49R	p.K49R	NM_002964.4	NP_002955.2	P05109	S10A8_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	315	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		49			EF-hand 2.		A8K5L3|D3DV37|Q5SY70|Q9UC84|Q9UC92|Q9UCJ0|Q9UCM6	Missense_Mutation	SNP	ENST00000368733.3	37	c.146A>G	CCDS1038.1	.	.	.	.	.	.	.	.	.	.	.	11.89	1.773606	0.31411	.	.	ENSG00000143546	ENST00000368733;ENST00000368732	T;T	0.07021	3.23;3.23	4.37	2.01	0.26516	EF-hand-like domain (1);	0.146302	0.64402	N	0.000011	T	0.01523	0.0049	.	.	.	0.09310	N	1	B	0.18741	0.03	B	0.17098	0.017	T	0.45877	-0.9231	9	0.36615	T	0.2	.	3.8238	0.08846	0.1858:0.1009:0.0:0.7134	.	49	P05109	S10A8_HUMAN	R	49	ENSP00000357722:K49R;ENSP00000357721:K49R	ENSP00000357721:K49R	K	-	2	0	S100A8	151629339	0.137000	0.22531	0.024000	0.17045	0.196000	0.23810	1.062000	0.30555	0.437000	0.26423	0.524000	0.50904	AAG		0.507	S100A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036791.1	NM_002964		3	149	0	0	0	0.004672	0	3	149				
CR1	1378	broad.mit.edu	37	1	207787753	207787753	+	Nonsense_Mutation	SNP	C	C	T	rs55749440		TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr1:207787753C>T	ENST00000367049.4	+	40	6580	c.6580C>T	c.(6580-6582)Cga>Tga	p.R2194*	CR1_ENST00000367053.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367052.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367051.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000400960.2_Nonsense_Mutation_p.R1744*	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1744					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)	p.R1749*(9)|p.R2194*(9)|p.R1744*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTTTAGGTTCCGATTAAAAGG	0.423																																						ENST00000367049.4																			19	Substitution - Nonsense(19)	p.R1749*(9)|p.R2194*(9)|p.R1744*(1)	lung(6)|endometrium(6)|prostate(3)|kidney(2)|central_nervous_system(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(6580-6582)Cga>Tga		complement component (3b/4b) receptor 1 (Knops blood group)							103.0	94.0	97.0					1																	207787753		1868	4107	5975	SO:0001587	stop_gained	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207787753C>T	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.6580C>T	1.37:g.207787753C>T	ENSP00000356016:p.Arg2194*					CR1_ENST00000367052.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367053.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000400960.2_Nonsense_Mutation_p.R1744*|CR1_ENST00000367051.1_Nonsense_Mutation_p.R1744*	p.R2194*	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN			40	6580	+			1744					Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Nonsense_Mutation	SNP	ENST00000367049.4	37	c.6580C>T	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	C	44	11.182593	0.99528	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	.	.	.	4.29	2.39	0.29439	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.5152	0.27596	0.0:0.7891:0.0:0.2109	rs55749440	.	.	.	X	1744;1744;1744;1744;2194	.	ENSP00000356016:R2194X	R	+	1	2	CR1	205854376	0.129000	0.22400	0.370000	0.25965	0.352000	0.29268	0.213000	0.17521	0.518000	0.28383	0.436000	0.28706	CGA		0.423	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		3	47	0	0	0	0.009096	0	3	47				
SPTBN2	6712	broad.mit.edu	37	11	66457286	66457286	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr11:66457286G>A	ENST00000533211.1	-	29	6270	c.5939C>T	c.(5938-5940)gCg>gTg	p.A1980V	SPTBN2_ENST00000309996.2_Missense_Mutation_p.A1980V|SPTBN2_ENST00000529997.1_Missense_Mutation_p.A1980V			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1980					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CTCCTCGGCCGCATAGTGGCT	0.602																																						ENST00000533211.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(5938-5940)gCg>gTg		spectrin, beta, non-erythrocytic 2							92.0	99.0	97.0					11																	66457286		2200	4295	6495	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66457286G>A	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.5939C>T	11.37:g.66457286G>A	ENSP00000432568:p.Ala1980Val					SPTBN2_ENST00000309996.2_Missense_Mutation_p.A1980V|SPTBN2_ENST00000529997.1_Missense_Mutation_p.A1980V	p.A1980V			O15020	SPTN2_HUMAN			29	6270	-			1980					O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.5939C>T	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	G	33	5.284480	0.95517	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.54279	0.58;0.58;0.58	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.73171	0.3553	M	0.88906	2.99	0.80722	D	1	D	0.76494	0.999	P	0.59221	0.854	T	0.74768	-0.3553	10	0.33141	T	0.24	.	17.4906	0.87702	0.0:0.0:1.0:0.0	.	1980	O15020	SPTN2_HUMAN	V	1980	ENSP00000432568:A1980V;ENSP00000311489:A1980V;ENSP00000433593:A1980V	ENSP00000311489:A1980V	A	-	2	0	SPTBN2	66213862	1.000000	0.71417	0.814000	0.32528	0.895000	0.52256	5.519000	0.67074	2.664000	0.90586	0.655000	0.94253	GCG		0.602	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		4	141	0	0	0	0.009096	0	4	141				
TTN	7273	broad.mit.edu	37	2	179412752	179412752	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr2:179412752A>G	ENST00000591111.1	-	289	88902	c.88678T>C	c.(88678-88680)Ttc>Ctc	p.F29560L	TTN_ENST00000342992.6_Missense_Mutation_p.F28633L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.F31201L|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.F22261L|TTN_ENST00000460472.2_Missense_Mutation_p.F22136L|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.F22328L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29560	Fibronectin type-III 115. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.F22136L(2)|p.F22261L(1)|p.F28633L(1)|p.F28631L(1)|p.F22328L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAGAAGAGAAGGCTTCTCTG	0.443																																						ENST00000589042.1																			6	Substitution - Missense(6)	p.F22136L(2)|p.F22261L(1)|p.F28633L(1)|p.F28631L(1)|p.F22328L(1)	prostate(6)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(93601-93603)Ttc>Ctc		titin							63.0	66.0	65.0					2																	179412752		1928	4134	6062	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179412752A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.88678T>C	2.37:g.179412752A>G	ENSP00000465570:p.Phe29560Leu					TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.F29560L|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.F22136L|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.F22328L|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.F22261L|TTN_ENST00000342992.6_Missense_Mutation_p.F28633L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA	p.F31201L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		339	93825	-			29560			Fibronectin type-III 127.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.93601T>C		.	.	.	.	.	.	.	.	.	.	A	14.28	2.488554	0.44249	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	5.92	5.92	0.95590	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.30198	0.0757	N	0.04320	-0.23	0.80722	D	1	B;B;B;B	0.21753	0.06;0.06;0.06;0.06	B;B;B;B	0.17433	0.018;0.018;0.018;0.018	T	0.15665	-1.0429	9	0.87932	D	0	.	16.3526	0.83220	1.0:0.0:0.0:0.0	.	22136;22261;22328;29560	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	28633;22136;22328;22261;22133	ENSP00000343764:F28633L;ENSP00000434586:F22136L;ENSP00000340554:F22328L;ENSP00000352154:F22261L	ENSP00000340554:F22328L	F	-	1	0	TTN	179120998	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.933000	0.70130	2.255000	0.74692	0.533000	0.62120	TTC		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		33	52	0	0	0	0.012213	0	33	52				
KCNJ11	3767	broad.mit.edu	37	11	17409276	17409276	+	Silent	SNP	G	G	A			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr11:17409276G>A	ENST00000339994.4	-	1	930	c.363C>T	c.(361-363)ttC>ttT	p.F121F	KCNJ11_ENST00000528731.1_Silent_p.F34F|KCNJ11_ENST00000526747.1_5'Flank	NM_000525.3	NP_000516.3	Q14654	KCJ11_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	121					cellular response to glucose stimulus (GO:0071333)|cellular response to nicotine (GO:0071316)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|negative regulation of insulin secretion (GO:0046676)|neurological system process (GO:0050877)|positive regulation of cation channel activity (GO:2001259)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ischemia (GO:0002931)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	ATP-sensitive potassium channel complex (GO:0008282)|axolemma (GO:0030673)|cell body fiber (GO:0070852)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|ion channel binding (GO:0044325)|potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)	p.F121F(1)		endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	Diazoxide(DB01119)|Glimepiride(DB00222)|Glyburide(DB01016)|Ibutilide(DB00308)|Levosimendan(DB00922)|Thiamylal(DB01154)|Verapamil(DB00661)|Yohimbine(DB01392)	TGGAGAAAAGGAAGGCAGACG	0.607																																						ENST00000339994.4																			1	Substitution - coding silent(1)	p.F121F(1)	prostate(1)	endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16						c.(361-363)ttC>ttT		potassium inwardly-rectifying channel, subfamily J, member 11							124.0	98.0	107.0					11																	17409276		2200	4293	6493	SO:0001819	synonymous_variant	3767					integral to membrane	ATP-activated inward rectifier potassium channel activity	g.chr11:17409276G>A	D50582	CCDS31436.1, CCDS53606.1	11p15.1	2011-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6257	protein-coding gene	gene with protein product		600937				7502040, 16382105	Standard	NM_001166290		Approved	Kir6.2, BIR	uc001mna.3	Q14654		ENST00000339994.4:c.363C>T	11.37:g.17409276G>A						KCNJ11_ENST00000528731.1_Silent_p.F34F	p.F121F	NM_000525.3	NP_000516.3	B4DWI4	B4DWI4_HUMAN		READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	1	930	-			34					B4DWI4|E9PNK0|Q2M1H7|Q58EX3|Q8IW96	Silent	SNP	ENST00000339994.4	37	c.363C>T	CCDS31436.1	.	.	.	.	.	.	.	.	.	.	G	4.664	0.123395	0.08931	.	.	ENSG00000187486	ENST00000528992	.	.	.	5.02	4.11	0.48088	.	.	.	.	.	T	0.68035	0.2957	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66504	-0.5907	4	.	.	.	.	13.1236	0.59340	0.0787:0.0:0.9213:0.0	.	.	.	.	F	127	.	.	S	-	2	0	KCNJ11	17365852	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	3.549000	0.53681	1.126000	0.42016	0.462000	0.41574	TCC		0.607	KCNJ11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387037.1	NM_000525		8	41	0	0	0	0.006214	0	8	41				
ANKRD20A8P	729171	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1		Q5CZ79	AN20B_HUMAN	ankyrin repeat domain 20 family, member A8, pseudogene									p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687																																						ENST00000432432.2																			1	Substitution - coding silent(1)	p.K44K(1)	prostate(1)																																																0							g.chr2:95522786T>C			2q11.1	2011-09-16	2010-12-15	2010-12-15	ENSG00000229089	ENSG00000229089			23666	pseudogene	pseudogene			"""ankyrin repeat domain 20B"""	ANKRD20B			Standard	NR_003366		Approved		uc010fhq.2	Q5CZ79	OTTHUMG00000155138		2.37:g.95522786T>C								NR_040113.1						0	241	-								A6NC18	RNA	SNP	ENST00000432432.2	37																																																																																						0.687	ANKRD20A8P-002	KNOWN	not_best_in_genome_evidence|basic	processed_transcript	pseudogene	OTTHUMT00000451404.1			3	86	0	0	0	0.000602	0	3	86				
CCDC34	91057	broad.mit.edu	37	11	27379087	27379087	+	Splice_Site	SNP	T	T	C			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr11:27379087T>C	ENST00000328697.6	-	2	1034	c.361A>G	c.(361-363)Act>Gct	p.T121A	CCDC34_ENST00000317945.6_Splice_Site_p.T121A	NM_030771.1	NP_110398.1	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34	121								p.T121A(2)		endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						TCAACCTGAGTGCTACAAAAG	0.398																																						ENST00000317945.6																			2	Substitution - Missense(2)	p.T121A(2)	prostate(2)	endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						c.e2-1		coiled-coil domain containing 34							118.0	110.0	113.0					11																	27379087		2202	4299	6501	SO:0001630	splice_region_variant	91057							g.chr11:27379087T>C	AF382034	CCDS7863.1, CCDS31448.1	11p14.1	2010-03-30			ENSG00000109881	ENSG00000109881			25079	protein-coding gene	gene with protein product		612324				11173847	Standard	NM_080654		Approved	NY-REN-41, L15, RAMA3	uc001mrh.1	Q96HJ3	OTTHUMG00000166211	ENST00000328697.6:c.360-1A>G	11.37:g.27379087T>C						CCDC34_ENST00000328697.6_Splice_Site_p.T121_splice	p.T121_splice	NM_080654.2	NP_542385.1	Q96HJ3	CCD34_HUMAN			2	400	-			121					B2R8G2|Q8IX69|Q9H2A6|Q9Y599	Splice_Site	SNP	ENST00000328697.6	37	c.359_splice	CCDS31448.1	.	.	.	.	.	.	.	.	.	.	T	8.958	0.969909	0.18659	.	.	ENSG00000109881	ENST00000328697;ENST00000317945	T;T	0.21734	1.99;1.99	5.17	-0.093	0.13652	.	1.051550	0.07402	N	0.891014	T	0.08758	0.0217	N	0.14661	0.345	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.001	T	0.34477	-0.9827	10	0.05351	T	0.99	1.6188	3.329	0.07077	0.2718:0.1758:0.0:0.5524	.	121;121	Q96HJ3-2;Q96HJ3	.;CCD34_HUMAN	A	121	ENSP00000330240:T121A;ENSP00000321563:T121A	ENSP00000321563:T121A	T	-	1	0	CCDC34	27335663	0.007000	0.16637	0.000000	0.03702	0.179000	0.23085	1.496000	0.35638	-0.110000	0.12022	-0.263000	0.10527	ACT		0.398	CCDC34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388396.2	NM_030771	Missense_Mutation	17	75	0	0	0	0.004990	0	17	75				
DENND2D	79961	broad.mit.edu	37	1	111737241	111737241	+	Silent	SNP	G	G	A			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr1:111737241G>A	ENST00000357640.4	-	7	982	c.753C>T	c.(751-753)gcC>gcT	p.A251A	DENND2D_ENST00000369752.5_Silent_p.A248A|DENND2D_ENST00000473682.1_5'Flank	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	251	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.A251A(1)		breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		TCTCCAGCACGGCAGAGGCAA	0.537																																						ENST00000357640.4																			1	Substitution - coding silent(1)	p.A251A(1)	prostate(1)	breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25						c.(751-753)gcC>gcT		DENN/MADD domain containing 2D							60.0	63.0	62.0					1																	111737241		2203	4300	6503	SO:0001819	synonymous_variant	79961							g.chr1:111737241G>A		CCDS831.1, CCDS60219.1	1p13.3	2014-02-12	2005-08-17		ENSG00000162777	ENSG00000162777		"""DENN/MADD domain containing"""	26192	protein-coding gene	gene with protein product		615111				12477932	Standard	NM_024901		Approved	FLJ22457, RP5-1180E21.2	uc001eal.2	Q9H6A0	OTTHUMG00000012356	ENST00000357640.4:c.753C>T	1.37:g.111737241G>A						DENND2D_ENST00000369752.5_Silent_p.A248A	p.A251A	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)	7	982	-		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)	251			DENN.		Q5T5V6|Q9BSU0	Silent	SNP	ENST00000357640.4	37	c.753C>T	CCDS831.1																																																																																				0.537	DENND2D-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000034456.1	NM_024901		13	55	0	0	0	0.001855	0	13	55				
KCNJ11	3767	broad.mit.edu	37	11	17409274	17409274	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr11:17409274A>C	ENST00000339994.4	-	1	932	c.365T>G	c.(364-366)cTt>cGt	p.L122R	KCNJ11_ENST00000528731.1_Missense_Mutation_p.L35R|KCNJ11_ENST00000526747.1_5'Flank	NM_000525.3	NP_000516.3	Q14654	KCJ11_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	122					cellular response to glucose stimulus (GO:0071333)|cellular response to nicotine (GO:0071316)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|negative regulation of insulin secretion (GO:0046676)|neurological system process (GO:0050877)|positive regulation of cation channel activity (GO:2001259)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ischemia (GO:0002931)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	ATP-sensitive potassium channel complex (GO:0008282)|axolemma (GO:0030673)|cell body fiber (GO:0070852)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|ion channel binding (GO:0044325)|potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)	p.L122R(1)		endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	Diazoxide(DB01119)|Glimepiride(DB00222)|Glyburide(DB01016)|Ibutilide(DB00308)|Levosimendan(DB00922)|Thiamylal(DB01154)|Verapamil(DB00661)|Yohimbine(DB01392)	AATGGAGAAAAGGAAGGCAGA	0.607																																						ENST00000339994.4																			1	Substitution - Missense(1)	p.L122R(1)	prostate(1)	endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16						c.(364-366)cTt>cGt		potassium inwardly-rectifying channel, subfamily J, member 11							123.0	98.0	106.0					11																	17409274		2200	4293	6493	SO:0001583	missense	3767					integral to membrane	ATP-activated inward rectifier potassium channel activity	g.chr11:17409274A>C	D50582	CCDS31436.1, CCDS53606.1	11p15.1	2011-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6257	protein-coding gene	gene with protein product		600937				7502040, 16382105	Standard	NM_001166290		Approved	Kir6.2, BIR	uc001mna.3	Q14654		ENST00000339994.4:c.365T>G	11.37:g.17409274A>C	ENSP00000345708:p.Leu122Arg					KCNJ11_ENST00000528731.1_Missense_Mutation_p.L35R	p.L122R	NM_000525.3	NP_000516.3	B4DWI4	B4DWI4_HUMAN		READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	1	932	-			35					B4DWI4|E9PNK0|Q2M1H7|Q58EX3|Q8IW96	Missense_Mutation	SNP	ENST00000339994.4	37	c.365T>G	CCDS31436.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.50|14.50	2.552866|2.552866	0.45487|0.45487	.|.	.|.	ENSG00000187486|ENSG00000187486	ENST00000528992|ENST00000339994;ENST00000528731;ENST00000526912	.|D;D;D	.|0.96200	.|-3.94;-3.94;-3.94	5.02|5.02	5.02|5.02	0.67125|0.67125	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95297|0.95297	0.8474|0.8474	M|M	0.87547|0.87547	2.89|2.89	0.80722|0.80722	D|D	1|1	.|B	.|0.31519	.|0.327	.|B	.|0.28011	.|0.085	D|D	0.95048|0.95048	0.8184|0.8184	5|10	.|0.72032	.|D	.|0.01	.|.	14.4217|14.4217	0.67187|0.67187	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|122	.|B2RC52	.|.	V|R	128|122;35;35	.|ENSP00000345708:L122R;ENSP00000434755:L35R;ENSP00000432729:L35R	.|ENSP00000345708:L122R	F|L	-|-	1|2	0|0	KCNJ11|KCNJ11	17365850|17365850	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.938000|0.938000	0.57974|0.57974	9.339000|9.339000	0.96797|0.96797	1.896000|1.896000	0.54893|0.54893	0.379000|0.379000	0.24179|0.24179	TTT|CTT		0.607	KCNJ11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387037.1	NM_000525		8	41	0	0	0	0.004482	0	8	41				
KRT222	125113	broad.mit.edu	37	17	38821349	38821349	+	Start_Codon_SNP	SNP	C	C	A			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr17:38821349C>A	ENST00000476049.1	-	1	44	c.3G>T	c.(1-3)atG>atT	p.M1I	AC073508.1_ENST00000607244.1_RNA|KRT222_ENST00000394052.3_Start_Codon_SNP_p.M1I			Q8N1A0	KT222_HUMAN	keratin 222	1						intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.M1I(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						GGGACAGTTCCATTCTTTTCC	0.512																																						ENST00000476049.1																			1	Substitution - Missense(1)	p.M1I(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						c.(1-3)atG>atT		keratin 222							240.0	218.0	226.0					17																	38821349		2203	4300	6503	SO:0001582	initiator_codon_variant	125113					intermediate filament	structural molecule activity	g.chr17:38821349C>A	AK092967	CCDS11371.1	17q21.2	2013-06-25	2009-08-25	2009-08-25	ENSG00000213424	ENSG00000213424		"""-"""	28695	protein-coding gene	gene with protein product			"""keratin 222 pseudogene"""	KRT222P		16831889	Standard	NM_152349		Approved	KA21, MGC45562	uc002hvc.2	Q8N1A0	OTTHUMG00000133374	ENST00000476049.1:c.3G>T	17.37:g.38821349C>A	ENSP00000463483:p.Met1Ile					KRT222_ENST00000394052.3_Start_Codon_SNP_p.M1I	p.M1I			Q8N1A0	KT222_HUMAN			1	44	-			1					Q7Z368	Translation_Start_Site	SNP	ENST00000476049.1	37	c.3G>T	CCDS11371.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385195	0.61956	.	.	ENSG00000213424	ENST00000394052	D	0.84873	-1.91	5.74	5.74	0.90152	.	0.142087	0.41938	U	0.000797	D	0.86715	0.5999	.	.	.	0.80722	D	1	P	0.43169	0.8	P	0.46718	0.525	D	0.84522	0.0628	9	0.33141	T	0.24	-16.4474	19.9145	0.97053	0.0:1.0:0.0:0.0	.	1	Q8N1A0	KT222_HUMAN	I	1	ENSP00000377616:M1I	ENSP00000377616:M1I	M	-	3	0	KRT222	36074875	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.409000	0.66374	2.709000	0.92574	0.655000	0.94253	ATG		0.512	KRT222-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000447539.1	NM_152349	Missense_Mutation	4	125	1	0	0.00024832	0.009096	0.000292141	4	125				
OR10G8	219869	broad.mit.edu	37	11	123900753	123900753	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr11:123900753C>T	ENST00000431524.1	+	1	457	c.424C>T	c.(424-426)Ctt>Ttt	p.L142F		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	142						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L142F(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CTCGTGTACTCTTCTGGCCAC	0.557																																						ENST00000431524.1																			1	Substitution - Missense(1)	p.L142F(1)	prostate(1)	breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(424-426)Ctt>Ttt		olfactory receptor, family 10, subfamily G, member 8							162.0	148.0	153.0					11																	123900753		2201	4299	6500	SO:0001583	missense	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900753C>T	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.424C>T	11.37:g.123900753C>T	ENSP00000389072:p.Leu142Phe						p.L142F	NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	457	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	142					B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	c.424C>T	CCDS31704.1	.	.	.	.	.	.	.	.	.	.	C	0.940	-0.710004	0.03230	.	.	ENSG00000234560	ENST00000431524	T	0.00188	8.59	3.04	2.11	0.27256	GPCR, rhodopsin-like superfamily (1);	0.846972	0.09830	N	0.750276	T	0.00178	0.0005	L	0.50993	1.605	0.09310	N	1	B	0.15141	0.012	B	0.24269	0.052	T	0.18023	-1.0350	10	0.27785	T	0.31	.	6.2922	0.21067	0.0:0.7524:0.0:0.2476	.	142	Q8NGN5	O10G8_HUMAN	F	142	ENSP00000389072:L142F	ENSP00000389072:L142F	L	+	1	0	OR10G8	123405963	0.000000	0.05858	0.401000	0.26359	0.006000	0.05464	-3.214000	0.00555	0.589000	0.29677	0.650000	0.86243	CTT		0.557	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		6	152	0	0	0	0.001168	0	6	152				
CABP5	56344	broad.mit.edu	37	19	48533840	48533840	+	Splice_Site	SNP	C	C	T			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr19:48533840C>T	ENST00000293255.2	-	6	627		c.e6-1			NM_019855.4	NP_062829.1	Q9NP86	CABP5_HUMAN	calcium binding protein 5						signal transduction (GO:0007165)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)	p.?(1)		endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		TTCACAAACTCTGCAAAGAAA	0.493																																						ENST00000293255.2																			1	Unknown(1)	p.?(1)	prostate(1)	endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11						c.e6-1		calcium binding protein 5							81.0	82.0	82.0					19																	48533840		2203	4300	6503	SO:0001630	splice_region_variant	56344				signal transduction	cytoplasm	calcium ion binding	g.chr19:48533840C>T	AF169159	CCDS12709.1	19q13.33	2014-08-12			ENSG00000105507	ENSG00000105507		"""EF-hand domain containing"""	13714	protein-coding gene	gene with protein product		607315	"""calcium binding protein 3"""	CABP3		10625670	Standard	NM_019855		Approved	CaBP3	uc002phu.2	Q9NP86	OTTHUMG00000183139	ENST00000293255.2:c.497-1G>A	19.37:g.48533840C>T								NM_019855.4	NP_062829.1	Q9NP86	CABP5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)	6	627	-		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)						A0AUY4	Splice_Site	SNP	ENST00000293255.2	37		CCDS12709.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294491	0.81025	.	.	ENSG00000105507	ENST00000293255	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.92	0.86161	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CABP5	53225652	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.478000	0.73596	2.676000	0.91093	0.650000	0.86243	.		0.493	CABP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465212.1	NM_019855	Intron	31	62	0	0	0	0.003755	0	31	62				
MPEG1	219972	broad.mit.edu	37	11	58978336	58978336	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr11:58978336A>C	ENST00000361050.3	-	1	2088	c.2003T>G	c.(2002-2004)cTg>cGg	p.L668R		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	668						integral component of membrane (GO:0016021)		p.L668R(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				AACAACAGCCAGAATGGTGGT	0.557																																						ENST00000361050.3																			1	Substitution - Missense(1)	p.L668R(1)	prostate(1)	NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2002-2004)cTg>cGg		macrophage expressed 1							120.0	126.0	124.0					11																	58978336		2044	4178	6222	SO:0001583	missense	219972					integral to membrane		g.chr11:58978336A>C	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"""macrophage expressed gene 1"""	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.2003T>G	11.37:g.58978336A>C	ENSP00000354335:p.Leu668Arg						p.L668R	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN			1	2088	-		all_epithelial(135;0.125)	668					Q2M1T6|Q8TEF8	Missense_Mutation	SNP	ENST00000361050.3	37	c.2003T>G	CCDS41650.1	.	.	.	.	.	.	.	.	.	.	A	13.58	2.280229	0.40294	.	.	ENSG00000197629	ENST00000361050	T	0.29142	1.58	5.69	5.69	0.88448	.	0.143329	0.48286	D	0.000193	T	0.51398	0.1672	M	0.64997	1.995	0.44719	D	0.997717	D	0.89917	1.0	D	0.69307	0.963	T	0.53989	-0.8360	10	0.87932	D	0	-10.1694	13.4674	0.61263	1.0:0.0:0.0:0.0	.	668	Q2M385	MPEG1_HUMAN	R	668	ENSP00000354335:L668R	ENSP00000354335:L668R	L	-	2	0	MPEG1	58734912	1.000000	0.71417	0.527000	0.27925	0.063000	0.16089	7.592000	0.82676	2.166000	0.68216	0.533000	0.62120	CTG		0.557	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396		32	79	0	0	0	0.013726	0	32	79				
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																						ENST00000445430.1																			0																																																			0							g.chr3:195400728A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G														0	1324	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.587	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			3	24	0	0	0	0.009096	0	3	24				
ATF6B	1388	broad.mit.edu	37	6	32093899	32093899	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr6:32093899G>T	ENST00000375203.3	-	5	505	c.473C>A	c.(472-474)tCc>tAc	p.S158Y	ATF6B_ENST00000468502.1_5'UTR|ATF6B_ENST00000375201.4_Missense_Mutation_p.S155Y	NM_001136153.1|NM_004381.4	NP_001129625.1|NP_004372.3	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	158					response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S158Y(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						ATTACCTGAGGAATCATCAGA	0.507																																						ENST00000375201.4																			1	Substitution - Missense(1)	p.S158Y(1)	prostate(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						c.(463-465)tCc>tAc		activating transcription factor 6 beta							151.0	135.0	140.0					6																	32093899		2203	4300	6503	SO:0001583	missense	1388				response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:32093899G>T		CCDS47408.1, CCDS4737.1	6p21.3	2013-01-10	2008-10-21	2008-10-21	ENSG00000213676	ENSG00000213676		"""basic leucine zipper proteins"""	2349	protein-coding gene	gene with protein product		600984	"""cAMP responsive element binding protein-like 1"""	CREBL1		11256944, 14973138	Standard	NM_004381		Approved	G13	uc003nzn.3	Q99941	OTTHUMG00000031296	ENST00000375203.3:c.473C>A	6.37:g.32093899G>T	ENSP00000364349:p.Ser158Tyr					ATF6B_ENST00000375203.3_Missense_Mutation_p.S158Y|ATF6B_ENST00000468502.1_5'UTR	p.S155Y			Q99941	ATF6B_HUMAN			5	509	-			158					B0UYX6|Q13269|Q14343|Q14345|Q5SSW7|Q99635|Q99637|Q9H3V9|Q9H3W1|Q9NPL0	Missense_Mutation	SNP	ENST00000375203.3	37	c.464C>A	CCDS4737.1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.454131	0.01071	.	.	ENSG00000213676	ENST00000375203;ENST00000375201	T;T	0.56275	0.47;1.19	5.01	1.21	0.21127	.	0.433718	0.17612	U	0.168048	T	0.15046	0.0363	L	0.27053	0.805	0.09310	N	1	P;B;B	0.43094	0.799;0.415;0.105	B;B;B	0.38020	0.263;0.179;0.054	T	0.07158	-1.0787	10	0.48119	T	0.1	-1.009	4.3729	0.11256	0.2812:0.1651:0.5537:0.0	.	158;155;158	Q96QL7;Q99941-2;Q99941	.;.;ATF6B_HUMAN	Y	158;155	ENSP00000364349:S158Y;ENSP00000364347:S155Y	ENSP00000364347:S155Y	S	-	2	0	ATF6B	32201877	0.693000	0.27728	0.065000	0.19835	0.703000	0.40648	1.271000	0.33098	0.042000	0.15717	-0.872000	0.02987	TCC		0.507	ATF6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076638.2			42	81	1	0	5.7616e-29	0.014410	7.51513e-29	42	81				
ADAMTS19	171019	broad.mit.edu	37	5	128983512	128983512	+	Missense_Mutation	SNP	G	G	A	rs368867511		TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr5:128983512G>A	ENST00000274487.4	+	12	2054	c.1909G>A	c.(1909-1911)Gga>Aga	p.G637R	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	637	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G637R(2)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		ACATCTGGCCGGAGAGTGGAG	0.522																																						ENST00000274487.4																			2	Substitution - Missense(2)	p.G637R(2)	prostate(2)	NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91						c.(1909-1911)Gga>Aga		ADAM metallopeptidase with thrombospondin type 1 motif, 19		G	ARG/GLY	0,4406		0,0,2203	143.0	142.0	142.0		1909	4.5	1.0	5		142	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADAMTS19	NM_133638.3	125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	637/1208	128983512	1,13005	2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128983512G>A	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.1909G>A	5.37:g.128983512G>A	ENSP00000274487:p.Gly637Arg					CTC-575N7.1_ENST00000503616.1_RNA	p.G637R	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	12	2054	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	637			TSP type-1 1.			Missense_Mutation	SNP	ENST00000274487.4	37	c.1909G>A	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.595049	0.86953	0.0	1.16E-4	ENSG00000145808	ENST00000274487	T	0.61742	0.08	4.52	4.52	0.55395	.	0.000000	0.64402	D	0.000002	T	0.80121	0.4565	M	0.89030	3	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.83146	-0.0106	9	.	.	.	.	18.5478	0.91053	0.0:0.0:1.0:0.0	.	637	Q8TE59	ATS19_HUMAN	R	637	ENSP00000274487:G637R	.	G	+	1	0	ADAMTS19	129011411	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.804000	0.69135	2.797000	0.96272	0.650000	0.86243	GGA		0.522	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		55	27	0	0	0	0.014410	0	55	27				
FOXC1	2296	broad.mit.edu	37	6	1611154	1611154	+	Silent	SNP	C	C	T	rs369346224	byFrequency	TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr6:1611154C>T	ENST00000380874.2	+	1	474	c.474C>T	c.(472-474)tcC>tcT	p.S158S		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	158					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|eye development (GO:0001654)|germ cell migration (GO:0008354)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lacrimal gland development (GO:0032808)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of mitotic cell cycle (GO:0045930)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|paraxial mesoderm formation (GO:0048341)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.S158S(2)		large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		ACCCGGACTCCTACAACATGT	0.627													c|||	5	0.000998403	0.0	0.0	5008	,	,		11409	0.003		0.0	False		,,,				2504	0.002				Pancreas(133;719 1821 3197 26645 35015)	ENST00000380874.2																			2	Substitution - coding silent(2)	p.S158S(2)	prostate(2)	large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						c.(472-474)tcC>tcT		forkhead box C1							50.0	54.0	53.0					6																	1611154		2203	4300	6503	SO:0001819	synonymous_variant	2296				anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	nuclear heterochromatin|transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr6:1611154C>T	AF048693	CCDS4473.1	6p25	2008-04-10			ENSG00000054598	ENSG00000054598		"""Forkhead boxes"""	3800	protein-coding gene	gene with protein product		601090		FKHL7, IRID1		7957066, 9620769	Standard	NM_001453		Approved	FREAC3, ARA, IGDA, IHG1	uc003mtp.3	Q12948	OTTHUMG00000016182	ENST00000380874.2:c.474C>T	6.37:g.1611154C>T							p.S158S	NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)	1	474	+	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)	158					Q86UP7|Q9BYM1|Q9NUE5|Q9UDD0|Q9UP06	Silent	SNP	ENST00000380874.2	37	c.474C>T	CCDS4473.1																																																																																				0.627	FOXC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043450.1			8	38	0	0	0	0.003080	0	8	38				
AC015849.16	0	broad.mit.edu	37	17	34233423	34233423	+	lincRNA	SNP	G	G	A			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr17:34233423G>A	ENST00000587132.1	-	0	4604																											ATGGTGAAATGTTGGAGGCTG	0.468																																						ENST00000587132.1																			0																																																			0							g.chr17:34233423G>A																													17.37:g.34233423G>A														0	4604	-									RNA	SNP	ENST00000587132.1	37																																																																																						0.468	AC015849.16-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000449325.1			10	9	0	0	0	0.006214	0	10	9				
VARS	7407	broad.mit.edu	37	6	31752254	31752254	+	Missense_Mutation	SNP	C	C	T	rs199533729		TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr6:31752254C>T	ENST00000375663.3	-	12	1933	c.1493G>A	c.(1492-1494)cGc>cAc	p.R498H	VARS_ENST00000444930.2_Missense_Mutation_p.R203H|VARS_ENST00000482996.1_5'Flank	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	498					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)	p.R498H(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GAGCAGGGTGCGACCTGTCAG	0.597																																						ENST00000375663.3																			2	Substitution - Missense(2)	p.R498H(2)	prostate(1)|lung(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30						c.(1492-1494)cGc>cAc		valyl-tRNA synthetase	L-Valine(DB00161)						73.0	77.0	76.0					6																	31752254		2203	4300	6503	SO:0001583	missense	7407				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	g.chr6:31752254C>T	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	12651	protein-coding gene	gene with protein product	"""valine tRNA ligase 1, cytoplasmic"""	192150	"""valyl-tRNA synthetase 2"""	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.1493G>A	6.37:g.31752254C>T	ENSP00000364815:p.Arg498His					VARS_ENST00000444930.2_Missense_Mutation_p.R203H	p.R498H	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN			12	1933	-			498					B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Missense_Mutation	SNP	ENST00000375663.3	37	c.1493G>A	CCDS34412.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.020064	0.93462	.	.	ENSG00000204394	ENST00000375663;ENST00000444930	T	0.04406	3.63	5.82	5.82	0.92795	Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.85682	D	0.000000	T	0.16896	0.0406	M	0.83692	2.655	0.58432	D	0.999996	D	0.89917	1.0	D	0.83275	0.996	T	0.00824	-1.1551	10	0.35671	T	0.21	-13.372	17.587	0.87984	0.0:1.0:0.0:0.0	.	498	P26640	SYVC_HUMAN	H	498;203	ENSP00000364815:R498H	ENSP00000364815:R498H	R	-	2	0	VARS	31860233	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.403000	0.66338	2.747000	0.94245	0.655000	0.94253	CGC		0.597	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		25	56	0	0	0	0.006320	0	25	56				
CDH5	1003	broad.mit.edu	37	16	66436911	66436911	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr16:66436911G>A	ENST00000341529.3	+	12	2342	c.2194G>A	c.(2194-2196)Ggc>Agc	p.G732S	CDH5_ENST00000539168.1_Missense_Mutation_p.G171S	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	732					adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)	p.G732S(1)		central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	GCACATCTACGGCTACGAGGG	0.642																																						ENST00000341529.3																			1	Substitution - Missense(1)	p.G732S(1)	prostate(1)	central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(2194-2196)Ggc>Agc		cadherin 5, type 2 (vascular endothelium)							54.0	45.0	48.0					16																	66436911		2201	4300	6501	SO:0001583	missense	1003				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	g.chr16:66436911G>A	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"""CD molecules"", ""Cadherins / Major cadherins"""	1764	protein-coding gene	gene with protein product	"""VE-cadherin"""	601120	"""cadherin 5, type 2, VE-cadherin (vascular epithelium)"""			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.2194G>A	16.37:g.66436911G>A	ENSP00000344115:p.Gly732Ser					CDH5_ENST00000539168.1_Missense_Mutation_p.G171S	p.G732S	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	12	2342	+		Ovarian(137;0.0955)	732					Q4VAI5|Q4VAI6	Missense_Mutation	SNP	ENST00000341529.3	37	c.2194G>A	CCDS10804.1	.	.	.	.	.	.	.	.	.	.	G	36	5.805268	0.96967	.	.	ENSG00000179776	ENST00000341529;ENST00000379531;ENST00000539262;ENST00000539168	T;T	0.76839	-1.05;-1.05	5.46	5.46	0.80206	Cadherin, cytoplasmic domain (1);	.	.	.	.	D	0.86264	0.5891	L	0.59912	1.85	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	D	0.86566	0.1844	9	0.56958	D	0.05	.	18.288	0.90120	0.0:0.0:1.0:0.0	.	732	P33151	CADH5_HUMAN	S	732;617;473;171	ENSP00000344115:G732S;ENSP00000461880:G171S	ENSP00000344115:G732S	G	+	1	0	CDH5	64994412	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.799000	0.99117	2.550000	0.86006	0.563000	0.77884	GGC		0.642	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		11	19	0	0	0	0.010729	0	11	19				
ADRBK1	156	broad.mit.edu	37	11	67052768	67052768	+	Silent	SNP	G	G	A			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr11:67052768G>A	ENST00000308595.5	+	21	2207	c.1917G>A	c.(1915-1917)gaG>gaA	p.E639E	ADRBK1_ENST00000526285.1_Intron	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	639	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)	p.E639E(2)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	GCGACCCTGAGCTGGTGCAGT	0.697																																						ENST00000308595.5																			2	Substitution - coding silent(2)	p.E639E(2)	prostate(2)	cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22						c.(1915-1917)gaG>gaA		adrenergic, beta, receptor kinase 1	Adenosine triphosphate(DB00171)						40.0	37.0	38.0					11																	67052768		2200	4293	6493	SO:0001819	synonymous_variant	156				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr11:67052768G>A	X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"""Pleckstrin homology (PH) domain containing"""	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.1917G>A	11.37:g.67052768G>A						ADRBK1_ENST00000526285.1_Intron	p.E639E	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		21	2207	+			639			PH.		B0ZBE1|Q13837|Q6GTT3	Silent	SNP	ENST00000308595.5	37	c.1917G>A	CCDS8156.1																																																																																				0.697	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393153.1	NM_001619		21	31	0	0	0	0.010504	0	21	31				
RASAL1	8437	broad.mit.edu	37	12	113544983	113544983	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr12:113544983G>T	ENST00000261729.5	-	16	1891	c.1576C>A	c.(1576-1578)Ccc>Acc	p.P526T	RASAL1_ENST00000548055.1_Missense_Mutation_p.P526T|RASAL1_ENST00000446861.3_Missense_Mutation_p.P526T|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000546530.1_Missense_Mutation_p.P527T			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	526					intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)	p.P526T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GGGTGCAGGGGGGCCATCCAC	0.622																																						ENST00000546530.1																			2	Substitution - Missense(2)	p.P526T(2)	prostate(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						c.(1579-1581)Ccc>Acc		RAS protein activator like 1 (GAP1 like)							73.0	65.0	68.0					12																	113544983		2203	4300	6503	SO:0001583	missense	8437				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	g.chr12:113544983G>T	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"""Pleckstrin homology (PH) domain containing"""	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.1576C>A	12.37:g.113544983G>T	ENSP00000261729:p.Pro526Thr					RASAL1_ENST00000446861.3_Missense_Mutation_p.P526T|RASAL1_ENST00000261729.5_Missense_Mutation_p.P526T|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Missense_Mutation_p.P526T	p.P527T	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN			16	1864	-			526					B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Missense_Mutation	SNP	ENST00000261729.5	37	c.1579C>A	CCDS9165.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.693709	0.68386	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	T;T;T;T	0.20463	2.07;2.07;2.07;2.07	4.94	4.94	0.65067	Rho GTPase activation protein (1);Ras GTPase-activating protein (2);	0.000000	0.85682	D	0.000000	T	0.44973	0.1319	M	0.79475	2.455	0.58432	D	0.999997	P;D;D;P;P;D	0.57571	0.942;0.98;0.967;0.772;0.662;0.98	P;P;P;P;B;P	0.59595	0.662;0.86;0.728;0.628;0.424;0.86	T	0.46105	-0.9215	10	0.52906	T	0.07	.	16.9465	0.86231	0.0:0.0:1.0:0.0	.	526;526;539;527;526;526	B4DG06;F8VRH9;Q59H24;F8VQX1;O95294;O95294-2	.;.;.;.;RASL1_HUMAN;.	T	527;526;526;526	ENSP00000450244:P527T;ENSP00000261729:P526T;ENSP00000395920:P526T;ENSP00000448510:P526T	ENSP00000261729:P526T	P	-	1	0	RASAL1	112029366	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.333000	0.96459	2.287000	0.76781	0.561000	0.74099	CCC		0.622	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		18	30	1	0	2.48551e-13	0.004990	3.17299e-13	18	30				
PIPSL	266971	broad.mit.edu	37	10	95718641	95718641	+	RNA	SNP	C	C	T			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr10:95718641C>T	ENST00000480546.1	-	0	2656					NR_002319.2		A2A3N6	PIPSL_HUMAN	PIP5K1A and PSMD4-like, pseudogene							cytoplasm (GO:0005737)	phosphatidylinositol phosphate kinase activity (GO:0016307)										CACAGCATTTCGAATGGCTTC	0.542																																						ENST00000480546.1																			0																																																			0							g.chr10:95718641C>T	BC068549		10q23.33	2010-10-27	2010-10-27	2007-07-06	ENSG00000180764	ENSG00000180764		"""Proteasome (prosome, macropain) subunits"""	23733	pseudogene	pseudogene			"""proteasome (prosome, macropain) 26S subunit, non-ATPase, 4, pseudogene 2"", ""phosphatidylinositol-4-phosphate 5-kinase, type I-like 1"", ""PIP5K1A and PSMD4-like"""	PSMD4P2, PIP5K1L1		16344562	Standard	NR_002319		Approved	PIP5K1A-PSMD4, PIP5K1P3	uc009xuj.2	A2A3N6	OTTHUMG00000137480		10.37:g.95718641C>T								NR_002319.2						0	2656	-								Q6NUK8	RNA	SNP	ENST00000480546.1	37																																																																																						0.542	PIPSL-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000351483.1	NR_002319		10	62	0	0	0	0.006214	0	10	62				
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867	byFrequency	TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr1:145302714A>G	ENST00000369339.3	+	5	592	c.339A>G	c.(337-339)ttA>ttG	p.L113L	NBPF10_ENST00000369338.1_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000342960.5_Silent_p.L384L			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	384						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527																																						ENST00000342960.5																			6	Substitution - coding silent(6)	p.L113L(3)|p.L384L(3)	prostate(2)|kidney(2)|central_nervous_system(2)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(1150-1152)ttA>ttG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145302714A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.339A>G	1.37:g.145302714A>G						NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR	p.L384L	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	8	1187	+	all_hematologic(923;0.032)		384					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37	c.1152A>G																																																																																					0.527	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		7	156	0	0	0	0.001984	0	7	156				
BMS1P20	96610	broad.mit.edu	37	22	22663087	22663087	+	RNA	SNP	A	A	G	rs1054158|rs71318762	byFrequency	TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr22:22663087A>G	ENST00000426066.1	+	0	526					NR_027293.1				BMS1 pseudogene 20																		GCTGCCACATAAGTTGTCCTT	0.303													.|||	3161	0.63119	0.9652	0.4726	5008	,	,		8984	0.4077		0.5219	False		,,,				2504	0.635					ENST00000426066.1																			0																																																			0							g.chr22:22663087A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22663087A>G								NR_027293.1						0	526	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.303	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	46	0	0	0	0.009096	0	3	46				
SERHL2	253190	broad.mit.edu	37	22	42971987	42971987	+	IGR	SNP	T	T	C	rs137064	byFrequency	TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr22:42971987T>C	ENST00000327678.5	+	0	1374				RRP7B_ENST00000357802.2_RNA	NM_014509.3	NP_055324.2	Q9NQF3	SERHL_HUMAN	serine hydrolase-like 2								hydrolase activity (GO:0016787)	p.Q59R(1)		breast(1)|endometrium(2)|lung(3)|skin(1)|stomach(1)	8						CAGCTCTTTTTGGCTGCGCTT	0.672													.|||	2207	0.440695	0.6831	0.2277	5008	,	,		16271	0.6845		0.171	False		,,,				2504	0.2904					ENST00000357802.2																			1	Substitution - Missense(1)	p.Q59R(1)	prostate(1)																																														SO:0001628	intergenic_variant	0							g.chr22:42971987T>C		CCDS14037.1, CCDS63498.1	22q13	2005-08-09			ENSG00000183569	ENSG00000183569			29446	protein-coding gene	gene with protein product							Standard	NM_014509		Approved		uc003bcr.3	Q9H4I8	OTTHUMG00000150892		22.37:g.42971987T>C														0	733	-								Q5JZ95|Q9UH21	RNA	SNP	ENST00000327678.5	37		CCDS14037.1																																																																																				0.672	SERHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320454.1	NM_014509		3	23	0	0	0	0.009096	0	3	23				
RIPK1	8737	broad.mit.edu	37	6	3077128	3077128	+	Missense_Mutation	SNP	A	A	G	rs375750553		TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr6:3077128A>G	ENST00000259808.4	+	2	369	c.71A>G	c.(70-72)gAc>gGc	p.D24G	RIPK1_ENST00000479389.1_Intron|RIPK1_ENST00000380409.2_Missense_Mutation_p.D24G|RIPK1_ENST00000541791.1_Missense_Mutation_p.D24G			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	24	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|amyloid fibril formation (GO:1990000)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to tumor necrosis factor (GO:0071356)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of ATP:ADP antiporter activity (GO:0070926)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to tumor necrosis factor (GO:0034612)|ripoptosome assembly (GO:0097343)|ripoptosome assembly involved in necroptotic process (GO:1901026)|T cell apoptotic process (GO:0070231)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|death domain binding (GO:0070513)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.D24G(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				GCAGAACTGGACAGCGGAGGC	0.478																																						ENST00000259808.4																			2	Substitution - Missense(2)	p.D24G(2)	prostate(2)	breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						c.(70-72)gAc>gGc		receptor (TNFRSF)-interacting serine-threonine kinase 1							85.0	76.0	79.0					6																	3077128		2203	4300	6503	SO:0001583	missense	8737				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity	g.chr6:3077128A>G	U25994	CCDS4482.1	6p25.2	2008-02-05			ENSG00000137275	ENSG00000137275			10019	protein-coding gene	gene with protein product		603453				7538908, 8612133	Standard	XM_005249458		Approved	RIP	uc003mux.3	Q13546	OTTHUMG00000014134	ENST00000259808.4:c.71A>G	6.37:g.3077128A>G	ENSP00000259808:p.Asp24Gly					RIPK1_ENST00000541791.1_Missense_Mutation_p.D24G|RIPK1_ENST00000479389.1_Intron|RIPK1_ENST00000380409.2_Missense_Mutation_p.D24G	p.D24G			Q13546	RIPK1_HUMAN			2	369	+	Ovarian(93;0.0386)	all_hematologic(90;0.0895)	24			Protein kinase.		A0AV89|B2RAG1|B4E3F9|Q13180|Q59H33	Missense_Mutation	SNP	ENST00000259808.4	37	c.71A>G	CCDS4482.1	.	.	.	.	.	.	.	.	.	.	A	14.14	2.445431	0.43429	.	.	ENSG00000137275	ENST00000259808;ENST00000541791;ENST00000380409	T;T;T	0.35421	1.4;1.31;1.4	5.56	4.4	0.53042	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.041422	0.85682	D	0.000000	T	0.09862	0.0242	N	0.00263	-1.745	0.80722	D	1	D;D	0.76494	0.999;0.961	D;P	0.65233	0.933;0.817	T	0.40515	-0.9559	10	0.22109	T	0.4	-28.3983	11.3347	0.49496	0.9279:0.0:0.0721:0.0	.	24;24	Q13546-2;Q13546	.;RIPK1_HUMAN	G	24	ENSP00000259808:D24G;ENSP00000442294:D24G;ENSP00000369773:D24G	ENSP00000259808:D24G	D	+	2	0	RIPK1	3022127	1.000000	0.71417	0.991000	0.47740	0.859000	0.49053	5.845000	0.69437	1.050000	0.40346	0.533000	0.62120	GAC		0.478	RIPK1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039659.2	NM_003804		8	49	0	0	0	0.003080	0	8	49				
PRKCSH	5589	broad.mit.edu	37	19	11552168	11552168	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr19:11552168A>G	ENST00000589838.1	+	5	464	c.464A>G	c.(463-465)aAg>aGg	p.K155R	PRKCSH_ENST00000412601.1_Missense_Mutation_p.K155R|snoU13_ENST00000459022.1_RNA|PRKCSH_ENST00000252455.2_Missense_Mutation_p.K155R|PRKCSH_ENST00000587327.1_Missense_Mutation_p.K155R|PRKCSH_ENST00000592741.1_Missense_Mutation_p.K155R|PRKCSH_ENST00000591462.1_Missense_Mutation_p.K155R			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	155					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|N-glycan processing (GO:0006491)|negative regulation of neuron projection development (GO:0010977)|nitrogen compound metabolic process (GO:0006807)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein N-linked glycosylation via asparagine (GO:0018279)|renal system development (GO:0072001)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|phosphoprotein binding (GO:0051219)|protein kinase C binding (GO:0005080)|RNA binding (GO:0003723)	p.K155R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						CGGGAGGAGAAGCAGGTAAGG	0.612																																						ENST00000252455.2																			1	Substitution - Missense(1)	p.K155R(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19	GRCh37	CM063069	PRKCSH	M		c.(463-465)aAg>aGg		protein kinase C substrate 80K-H							82.0	89.0	87.0					19																	11552168		2203	4300	6503	SO:0001583	missense	5589				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding	g.chr19:11552168A>G		CCDS32911.1, CCDS45977.1, CCDS74286.1	19p13.2	2014-01-30			ENSG00000130175	ENSG00000130175	2.7.11.1	"""EF-hand domain containing"""	9411	protein-coding gene	gene with protein product		177060	"""polycystic liver disease"""	G19P1, PCLD, PLD1		12529853	Standard	NM_002743		Approved		uc002mrt.3	P14314	OTTHUMG00000182029	ENST00000589838.1:c.464A>G	19.37:g.11552168A>G	ENSP00000465461:p.Lys155Arg					PRKCSH_ENST00000591462.1_Missense_Mutation_p.K155R|PRKCSH_ENST00000412601.1_Missense_Mutation_p.K155R|PRKCSH_ENST00000589838.1_Missense_Mutation_p.K155R|PRKCSH_ENST00000587327.1_Missense_Mutation_p.K155R|PRKCSH_ENST00000592741.1_Missense_Mutation_p.K155R	p.K155R	NM_002743.2	NP_002734.2	P14314	GLU2B_HUMAN			6	800	+			155					A8K318|Q96BU9|Q96D06|Q9P0W9	Missense_Mutation	SNP	ENST00000589838.1	37	c.464A>G	CCDS32911.1	.	.	.	.	.	.	.	.	.	.	A	10.28	1.307210	0.23821	.	.	ENSG00000130175	ENST00000252455;ENST00000412601	T;T	0.71698	-0.59;-0.59	5.13	5.13	0.70059	.	0.051201	0.85682	D	0.000000	T	0.56906	0.2017	N	0.17764	0.52	0.58432	D	0.999998	P;B;B	0.35401	0.499;0.005;0.081	B;B;B	0.39503	0.301;0.014;0.14	T	0.54125	-0.8340	10	0.15066	T	0.55	-59.3671	12.9039	0.58141	1.0:0.0:0.0:0.0	.	155;155;155	E7EQZ9;A8K318;P14314	.;.;GLU2B_HUMAN	R	155	ENSP00000252455:K155R;ENSP00000395616:K155R	ENSP00000252455:K155R	K	+	2	0	PRKCSH	11413168	1.000000	0.71417	1.000000	0.80357	0.266000	0.26442	7.327000	0.79147	1.947000	0.56498	0.459000	0.35465	AAG		0.612	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458817.1			52	113	0	0	0	0.014410	0	52	113				
FAT1	2195	broad.mit.edu	37	4	187540359	187540359	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr4:187540359A>G	ENST00000441802.2	-	10	7590	c.7381T>C	c.(7381-7383)Tac>Cac	p.Y2461H		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2461	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Y2461H(2)|p.Y2464H(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTAAGACTGTAAAATGGCTTC	0.443										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			3	Substitution - Missense(3)	p.Y2461H(2)|p.Y2464H(1)	prostate(3)	NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(7381-7383)Tac>Cac		FAT atypical cadherin 1							189.0	190.0	190.0					4																	187540359		1997	4161	6158	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187540359A>G	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7381T>C	4.37:g.187540359A>G	ENSP00000406229:p.Tyr2461His	HNSCC(5;0.00058)					p.Y2461H	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			10	7590	-			2461			Cadherin 22.			Missense_Mutation	SNP	ENST00000441802.2	37	c.7381T>C	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	A	8.027	0.760904	0.15914	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.69561	-0.41	5.24	4.05	0.47172	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.66237	0.2769	M	0.70903	2.155	0.80722	D	1	B	0.20988	0.05	B	0.28139	0.086	T	0.65257	-0.6212	10	0.52906	T	0.07	.	11.5211	0.50551	0.9294:0.0:0.0706:0.0	.	2461	Q14517	FAT1_HUMAN	H	2461;2463	ENSP00000406229:Y2461H	ENSP00000260147:Y2463H	Y	-	1	0	FAT1	187777353	1.000000	0.71417	0.100000	0.21137	0.036000	0.12997	6.062000	0.71155	1.108000	0.41662	0.528000	0.53228	TAC		0.443	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		6	234	0	0	0	0.001168	0	6	234				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	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		4	55	0	0	0	0.009096	0	4	55				
CSMD3	114788	broad.mit.edu	37	8	113529332	113529332	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr8:113529332C>T	ENST00000297405.5	-	28	4931	c.4687G>A	c.(4687-4689)Gag>Aag	p.E1563K	CSMD3_ENST00000455883.2_Missense_Mutation_p.E1459K|CSMD3_ENST00000343508.3_Missense_Mutation_p.E1523K|CSMD3_ENST00000352409.3_Missense_Mutation_p.E1563K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1563	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E1563K(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATTCTTTCCTCTCCTTGAAGT	0.438										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			1	Substitution - Missense(1)	p.E1563K(1)	prostate(1)	breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(4687-4689)Gag>Aag		CUB and Sushi multiple domains 3							131.0	121.0	124.0					8																	113529332		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113529332C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4687G>A	8.37:g.113529332C>T	ENSP00000297405:p.Glu1563Lys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Missense_Mutation_p.E1563K|CSMD3_ENST00000455883.2_Missense_Mutation_p.E1459K|CSMD3_ENST00000343508.3_Missense_Mutation_p.E1523K	p.E1563K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			28	4931	-			1563			Sushi 8.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.4687G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.953388	0.34471	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09	4.88	3.05	0.35203	Complement control module (2);Sushi/SCR/CCP (3);	0.240484	0.33938	N	0.004414	T	0.57489	0.2057	L	0.58583	1.82	0.30635	N	0.75703	B;B;B	0.14012	0.009;0.004;0.0	B;B;B	0.15484	0.012;0.013;0.002	T	0.54820	-0.8236	10	0.23891	T	0.37	.	15.7115	0.77631	0.0:0.8033:0.1967:0.0	.	1459;1563;1523	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	K	1523;1563;903;1459;1563	ENSP00000345799:E1523K;ENSP00000297405:E1563K;ENSP00000341558:E903K;ENSP00000412263:E1459K;ENSP00000343124:E1563K	ENSP00000297405:E1563K	E	-	1	0	CSMD3	113598508	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.617000	0.46385	0.628000	0.30357	0.585000	0.79938	GAG		0.438	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		32	66	0	0	0	0.009535	0	32	66				
ADAMTS5	11096	broad.mit.edu	37	21	28315754	28315754	+	Missense_Mutation	SNP	C	C	A	rs528381319	byFrequency	TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr21:28315754C>A	ENST00000284987.5	-	3	1471	c.1350G>T	c.(1348-1350)aaG>aaT	p.K450N		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	450	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.K450N(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TGGACCAGGGCTTAGATGCAT	0.448																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	ENST00000284987.5																			2	Substitution - Missense(2)	p.K450N(2)	prostate(2)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						c.(1348-1350)aaG>aaT		ADAM metallopeptidase with thrombospondin type 1 motif, 5							121.0	102.0	108.0					21																	28315754		2203	4300	6503	SO:0001583	missense	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28315754C>A	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.1350G>T	21.37:g.28315754C>A	ENSP00000284987:p.Lys450Asn						p.K450N	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN			3	1471	-			450			Peptidase M12B.		Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	37	c.1350G>T	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.534293	0.27475	.	.	ENSG00000154736	ENST00000284987	T	0.03524	3.9	5.4	-4.14	0.03892	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.046469	0.85682	D	0.000000	T	0.03827	0.0108	N	0.11023	0.085	0.45837	D	0.998702	D	0.63880	0.993	P	0.55667	0.781	T	0.06917	-1.0800	10	0.25106	T	0.35	.	15.1452	0.72643	0.0:0.2824:0.0:0.7176	.	450	Q9UNA0	ATS5_HUMAN	N	450	ENSP00000284987:K450N	ENSP00000284987:K450N	K	-	3	2	ADAMTS5	27237625	0.035000	0.19736	0.933000	0.37362	0.669000	0.39330	-0.794000	0.04584	-0.678000	0.05224	-0.145000	0.13849	AAG		0.448	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			4	34	1	0	0.00024832	0.009096	0.000292141	4	34				
ARHGEF15	22899	broad.mit.edu	37	17	8221715	8221715	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr17:8221715G>A	ENST00000361926.3	+	10	1825	c.1715G>A	c.(1714-1716)cGc>cAc	p.R572H	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.R572H|AC135178.7_ENST00000458568.1_RNA	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	572	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R572H(1)		breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						AATATCCTGCGCCAGACAGAA	0.627																																						ENST00000361926.3																			1	Substitution - Missense(1)	p.R572H(1)	prostate(1)	breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(1714-1716)cGc>cAc		Rho guanine nucleotide exchange factor (GEF) 15							77.0	84.0	82.0					17																	8221715		2203	4300	6503	SO:0001583	missense	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8221715G>A	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.1715G>A	17.37:g.8221715G>A	ENSP00000355026:p.Arg572His					ARHGEF15_ENST00000421050.1_Missense_Mutation_p.R572H|AC135178.7_ENST00000458568.1_RNA	p.R572H	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN			10	1825	+			572			DH.		A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	ENST00000361926.3	37	c.1715G>A	CCDS11139.1	.	.	.	.	.	.	.	.	.	.	g	9.504	1.103943	0.20632	.	.	ENSG00000198844	ENST00000361926;ENST00000455564;ENST00000421050	T;T	0.30981	1.51;1.51	5.29	-0.146	0.13432	Dbl homology (DH) domain (5);	0.903044	0.09761	N	0.759275	T	0.14527	0.0351	N	0.05124	-0.11	0.09310	N	1	B;B	0.22346	0.068;0.068	B;B	0.12837	0.008;0.008	T	0.24297	-1.0164	10	0.72032	D	0.01	-0.0636	7.7365	0.28817	0.501:0.0:0.499:0.0	.	572;572	D3DTR7;O94989	.;ARHGF_HUMAN	H	572;362;572	ENSP00000355026:R572H;ENSP00000412505:R572H	ENSP00000355026:R572H	R	+	2	0	ARHGEF15	8162440	0.838000	0.29461	0.319000	0.25293	0.739000	0.42172	0.317000	0.19487	-0.143000	0.11334	-0.300000	0.09419	CGC		0.627	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		47	84	0	0	0	0.014410	0	47	84				
SEPHS1	22929	broad.mit.edu	37	10	13375855	13375855	+	Silent	SNP	T	T	C			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr10:13375855T>C	ENST00000327347.5	-	5	897	c.522A>G	c.(520-522)ggA>ggG	p.G174G	SEPHS1_ENST00000545675.1_Silent_p.G174G|SEPHS1_ENST00000378614.4_Silent_p.G174G|SEPHS1_ENST00000537130.1_Silent_p.G107G	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN	selenophosphate synthetase 1	174					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|selenide, water dikinase activity (GO:0004756)	p.G174G(2)		cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						TGGTAGCCACTCCTCCCAGGA	0.438																																						ENST00000327347.5																			2	Substitution - coding silent(2)	p.G174G(2)	prostate(2)	cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						c.(520-522)ggA>ggG		selenophosphate synthetase 1							89.0	85.0	86.0					10																	13375855		2203	4300	6503	SO:0001819	synonymous_variant	22929				protein modification process		ATP binding|GTP binding|selenide, water dikinase activity	g.chr10:13375855T>C	BC000941	CCDS7098.1, CCDS55702.1, CCDS55703.1	10p14	2006-10-06			ENSG00000086475	ENSG00000086475			19685	protein-coding gene	gene with protein product		600902				7665581	Standard	NM_012247		Approved	SPS, SPS1	uc001imk.3	P49903	OTTHUMG00000017696	ENST00000327347.5:c.522A>G	10.37:g.13375855T>C						SEPHS1_ENST00000378614.4_Silent_p.G174G|SEPHS1_ENST00000545675.1_Silent_p.G174G|SEPHS1_ENST00000537130.1_Silent_p.G107G	p.G174G	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN			5	897	-			174					B4DWK0|D3DRS9|D6PSQ9|Q5T5U8|Q5T5U9|Q9BVT4	Silent	SNP	ENST00000327347.5	37	c.522A>G	CCDS7098.1																																																																																				0.438	SEPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046856.1	NM_012247		16	28	0	0	0	0.004990	0	16	28				
BMS1P20	96610	broad.mit.edu	37	22	22663086	22663086	+	RNA	SNP	T	T	G	rs1054157|rs71318762	byFrequency	TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr22:22663086T>G	ENST00000426066.1	+	0	525					NR_027293.1				BMS1 pseudogene 20																		AGCTGCCACATAAGTTGTCCT	0.299													.|||	3161	0.63119	0.9652	0.4726	5008	,	,		9186	0.4077		0.5219	False		,,,				2504	0.635					ENST00000426066.1																			0																																																			0							g.chr22:22663086T>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22663086T>G								NR_027293.1						0	525	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.299	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	46	0	0	0	0.009096	0	3	46				
OR4C3	256144	broad.mit.edu	37	11	48347071	48347071	+	Missense_Mutation	SNP	C	C	A	rs138317832		TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr11:48347071C>A	ENST00000319856.4	+	1	600	c.579C>A	c.(577-579)ttC>ttA	p.F193L		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F193L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						GGTTGCCCTTCTGTGGGCCCA	0.532																																						ENST00000319856.4																			1	Substitution - Missense(1)	p.F193L(1)	prostate(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						c.(577-579)ttC>ttA		olfactory receptor, family 4, subfamily C, member 3		C	LEU/PHE	1,4401	2.1+/-5.4	0,1,2200	177.0	158.0	165.0		579	4.9	1.0	11	dbSNP_134	165	0,8596		0,0,4298	no	missense	OR4C3	NM_001004702.1	22	0,1,6498	AA,AC,CC		0.0,0.0227,0.0077	probably-damaging	193/330	48347071	1,12997	2201	4298	6499	SO:0001583	missense	256144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48347071C>A	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"""GPCR / Class A : Olfactory receptors"""	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.579C>A	11.37:g.48347071C>A	ENSP00000321419:p.Phe193Leu						p.F193L	NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN			1	600	+			166					B2RNF2|Q6IFB3	Missense_Mutation	SNP	ENST00000319856.4	37	c.579C>A	CCDS31489.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.053995	0.75960	2.27E-4	0.0	ENSG00000176547	ENST00000319856;ENST00000395239	T	0.00039	8.85	5.78	4.88	0.63580	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000041	T	0.00468	0.0015	M	0.85859	2.78	0.36084	D	0.842984	D	0.89917	1.0	D	0.97110	1.0	T	0.66670	-0.5865	10	0.87932	D	0	.	9.0108	0.36139	0.0:0.8341:0.0:0.1659	.	166	Q8NH37	OR4C3_HUMAN	L	193;56	ENSP00000321419:F193L	ENSP00000321419:F193L	F	+	3	2	OR4C3	48303647	0.976000	0.34144	1.000000	0.80357	0.903000	0.53119	0.645000	0.24782	1.495000	0.48549	0.478000	0.44815	TTC		0.532	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702		23	63	1	0	1.96895e-08	0.002780	2.46118e-08	23	63				
OR4D9	390199	broad.mit.edu	37	11	59282589	59282589	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr11:59282589T>G	ENST00000329328.3	+	1	204	c.204T>G	c.(202-204)atT>atG	p.I68M		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I68M(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						ACCTGTCTATTCTTGACATCT	0.443																																						ENST00000329328.3																			1	Substitution - Missense(1)	p.I68M(1)	prostate(1)	endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						c.(202-204)atT>atG		olfactory receptor, family 4, subfamily D, member 9							198.0	189.0	192.0					11																	59282589		2201	4295	6496	SO:0001583	missense	390199				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59282589T>G	AB065861	CCDS31564.1	11q12.1	2012-08-09	2003-12-15		ENSG00000172742	ENSG00000172742		"""GPCR / Class A : Olfactory receptors"""	15178	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily D, member 9 pseudogene"""				Standard	NM_001004711		Approved		uc010rkv.2	Q8NGE8	OTTHUMG00000167343	ENST00000329328.3:c.204T>G	11.37:g.59282589T>G	ENSP00000328563:p.Ile68Met						p.I68M	NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN			1	204	+			68					Q6IFF3	Missense_Mutation	SNP	ENST00000329328.3	37	c.204T>G	CCDS31564.1	.	.	.	.	.	.	.	.	.	.	T	2.325	-0.354724	0.05138	.	.	ENSG00000172742	ENST00000329328	T	0.00551	6.65	3.76	-7.52	0.01341	GPCR, rhodopsin-like superfamily (1);	1.058250	0.07568	U	0.918069	T	0.00637	0.0021	L	0.42686	1.345	0.09310	N	1	B	0.25609	0.13	B	0.39419	0.299	T	0.36359	-0.9751	10	0.87932	D	0	.	7.6406	0.28292	0.1181:0.6117:0.1192:0.151	.	68	Q8NGE8	OR4D9_HUMAN	M	68	ENSP00000328563:I68M	ENSP00000328563:I68M	I	+	3	3	OR4D9	59039165	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.920000	0.00334	-2.078000	0.00872	-1.421000	0.01109	ATT		0.443	OR4D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394237.1	NM_001004711		79	123	0	0	0	0.014410	0	79	123				
SNAP25	6616	broad.mit.edu	37	20	10273562	10273562	+	Intron	SNP	C	C	G			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr20:10273562C>G	ENST00000254976.2	+	5	374				SNAP25_ENST00000304886.2_Missense_Mutation_p.H66D|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000453544.1_RNA	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa						energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long-term synaptic potentiation (GO:0060291)|neurotransmitter secretion (GO:0007269)|neurotransmitter uptake (GO:0001504)|regulation of establishment of protein localization (GO:0070201)|regulation of insulin secretion (GO:0050796)|regulation of neuron projection development (GO:0010975)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|SNARE complex (GO:0031201)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|trans-Golgi network (GO:0005802)	calcium-dependent protein binding (GO:0048306)	p.H66D(1)		endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	AGGCATGAACCATATCAACCA	0.413																																						ENST00000304886.2																			1	Substitution - Missense(1)	p.H66D(1)	prostate(1)	endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18						c.(196-198)Cat>Gat		synaptosomal-associated protein, 25kDa	Botulinum Toxin Type A(DB00083)						115.0	110.0	111.0					20																	10273562		2203	4300	6503	SO:0001627	intron_variant	6616				energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome		g.chr20:10273562C>G		CCDS13109.1, CCDS13110.1	20p12-p11.2	2008-08-01	2002-08-29		ENSG00000132639	ENSG00000132639			11132	protein-coding gene	gene with protein product	"""resistance to inhibitors of cholinesterase 4 homolog"""	600322	"""synaptosomal-associated protein, 25kD"""	SNAP		8661740, 10692432	Standard	NM_003081		Approved	SNAP-25, RIC-4, RIC4, SEC9, bA416N4.2, dJ1068F16.2	uc002wnr.2	P60880	OTTHUMG00000031863	ENST00000254976.2:c.164-247C>G	20.37:g.10273562C>G						SNAP25_ENST00000254976.2_Intron|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000453544.1_RNA	p.H66D	NM_003081.3	NP_003072.2	P60880	SNP25_HUMAN			5	404	+			66			Interaction with CENPF (By similarity).|t-SNARE coiled-coil homology 1.		B2RAU4|D3DW16|D3DW17|P13795|P36974|P70557|P70558|Q53EM2|Q5U0B5|Q8IXK3|Q96FM2|Q9BR45	Missense_Mutation	SNP	ENST00000254976.2	37	c.196C>G	CCDS13110.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.508591	0.44660	.	.	ENSG00000132639	ENST00000304886	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	T	0.49321	0.1550	.	.	.	0.49687	D	0.99981	B	0.18863	0.031	B	0.20384	0.029	T	0.46162	-0.9211	7	0.08599	T	0.76	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	66	P60880-2	.	D	66	.	ENSP00000307341:H66D	H	+	1	0	SNAP25	10221562	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.975000	0.70475	2.937000	0.99478	0.650000	0.86243	CAT		0.413	SNAP25-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077976.3	NM_130811		12	84	0	0	0	0.013537	0	12	84				
STARD3	10948	broad.mit.edu	37	17	37814071	37814071	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr17:37814071C>T	ENST00000336308.5	+	4	559	c.341C>T	c.(340-342)gCc>gTc	p.A114V	STARD3_ENST00000578232.1_3'UTR|STARD3_ENST00000544210.2_Missense_Mutation_p.A114V|STARD3_ENST00000580611.1_Missense_Mutation_p.A88V|STARD3_ENST00000394250.4_Missense_Mutation_p.A114V	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	114	MENTAL. {ECO:0000255|PROSITE- ProRule:PRU00770}.				cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|mitochondrial transport (GO:0006839)|progesterone biosynthetic process (GO:0006701)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	cholesterol binding (GO:0015485)	p.A114V(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	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;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CTAGGCTATGCCGTGCTGCGG	0.647																																						ENST00000336308.5																			1	Substitution - Missense(1)	p.A114V(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14						c.(340-342)gCc>gTc		StAR-related lipid transfer (START) domain containing 3							102.0	106.0	105.0					17																	37814071		2203	4300	6503	SO:0001583	missense	0				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity	g.chr17:37814071C>T		CCDS11341.1, CCDS54117.1, CCDS54118.1	17q11-q12	2011-09-12	2007-08-16		ENSG00000131748	ENSG00000131748		"""StAR-related lipid transfer (START) domain containing"""	17579	protein-coding gene	gene with protein product		607048	"""START domain containing 3"""				Standard	NM_006804		Approved	es64, MLN64	uc002hsd.3	Q14849	OTTHUMG00000133213	ENST00000336308.5:c.341C>T	17.37:g.37814071C>T	ENSP00000337446:p.Ala114Val					STARD3_ENST00000580611.1_Missense_Mutation_p.A88V|STARD3_ENST00000578232.1_3'UTR|STARD3_ENST00000544210.2_Missense_Mutation_p.A114V|STARD3_ENST00000394250.4_Missense_Mutation_p.A114V	p.A114V	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		4	559	+	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		114			MENTAL.		A8MXA4|B4DUY1|F5H0G2|Q53Y53|Q96HM9	Missense_Mutation	SNP	ENST00000336308.5	37	c.341C>T	CCDS11341.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.730869	0.48939	.	.	ENSG00000131748	ENST00000336308;ENST00000544210;ENST00000394250;ENST00000443521	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	4.38	4.38	0.52667	MENTAL domain (2);	0.000000	0.85682	D	0.000000	T	0.74321	0.3701	M	0.80982	2.52	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	0.999;0.996;1.0;1.0	T	0.79862	-0.1624	10	0.87932	D	0	.	17.3051	0.87192	0.0:1.0:0.0:0.0	.	114;114;114;114	F5H0G2;B4DWG5;A8MXA4;Q14849	.;.;.;STAR3_HUMAN	V	114	ENSP00000337446:A114V;ENSP00000439869:A114V;ENSP00000377794:A114V;ENSP00000411710:A114V	ENSP00000337446:A114V	A	+	2	0	STARD3	35067597	1.000000	0.71417	0.076000	0.20297	0.579000	0.36224	7.381000	0.79718	2.125000	0.65367	0.561000	0.74099	GCC		0.647	STARD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256933.1			4	90	0	0	0	0.009096	0	4	90				
HCN4	10021	broad.mit.edu	37	15	73615456	73615456	+	Missense_Mutation	SNP	G	G	T	rs199798661		TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr15:73615456G>T	ENST00000261917.3	-	8	3971	c.2978C>A	c.(2977-2979)aCg>aAg	p.T993K		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	993	Pro-rich.				blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.T993K(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TGTCTCTGGCGTGCTCAGTGG	0.697																																						ENST00000261917.3																			1	Substitution - Missense(1)	p.T993K(1)	prostate(1)	NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(2977-2979)aCg>aAg		hyperpolarization activated cyclic nucleotide-gated potassium channel 4							6.0	8.0	7.0					15																	73615456		1960	4040	6000	SO:0001583	missense	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73615456G>T	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.2978C>A	15.37:g.73615456G>T	ENSP00000261917:p.Thr993Lys						p.T993K	NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	8	3971	-			993			Pro-rich.		Q9UMQ7	Missense_Mutation	SNP	ENST00000261917.3	37	c.2978C>A	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	G	1.620	-0.521866	0.04171	.	.	ENSG00000138622	ENST00000261917	D	0.97404	-4.37	2.76	2.76	0.32466	.	.	.	.	.	D	0.93035	0.7783	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	D	0.84374	0.0545	9	0.22109	T	0.4	.	11.7502	0.51843	0.0:0.0:1.0:0.0	.	993	Q9Y3Q4	HCN4_HUMAN	K	993	ENSP00000261917:T993K	ENSP00000261917:T993K	T	-	2	0	HCN4	71402509	0.012000	0.17670	0.722000	0.30670	0.070000	0.16714	1.550000	0.36223	1.369000	0.46134	0.448000	0.29417	ACG		0.697	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		7	13	1	0	0.000157383	0.003080	0.000192714	7	13				
AGBL1	123624	broad.mit.edu	37	15	86838596	86838596	+	Silent	SNP	G	G	A			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr15:86838596G>A	ENST00000441037.2	+	16	2288	c.2193G>A	c.(2191-2193)acG>acA	p.T731T	AGBL1-AS1_ENST00000564487.1_RNA|AGBL1_ENST00000389298.3_Silent_p.T462T|AGBL1-AS1_ENST00000566878.1_RNA|AGBL1_ENST00000421325.2_Silent_p.T731T	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	731					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.T731T(1)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TGACCATCACGGCCATGCCTG	0.498																																						ENST00000441037.2																			1	Substitution - coding silent(1)	p.T731T(1)	prostate(1)	NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						c.(2191-2193)acG>acA		ATP/GTP binding protein-like 1							110.0	110.0	110.0					15																	86838596		1998	4176	6174	SO:0001819	synonymous_variant	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86838596G>A	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.2193G>A	15.37:g.86838596G>A						AGBL1_ENST00000421325.2_Silent_p.T731T|AGBL1_ENST00000389298.3_Silent_p.T462T	p.T731T	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN			16	2288	+			731					A1A4X5|A6NJH6|C9JHL5	Silent	SNP	ENST00000441037.2	37	c.2193G>A	CCDS58398.1																																																																																				0.498	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		37	68	0	0	0	0.007835	0	37	68				
DPT	1805	broad.mit.edu	37	1	168698284	168698284	+	Silent	SNP	C	C	T			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr1:168698284C>T	ENST00000367817.3	-	1	218	c.129G>A	c.(127-129)cgG>cgA	p.R43R		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	43	2 X 53-55 AA tandem repeats.				cell adhesion (GO:0007155)|collagen fibril organization (GO:0030199)|negative regulation of cell proliferation (GO:0008285)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.R43R(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					TGAAGCCTTGCCGGTTCAAAT	0.542																																						ENST00000367817.3																			1	Substitution - coding silent(1)	p.R43R(1)	prostate(1)	kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12						c.(127-129)cgG>cgA		dermatopontin							115.0	95.0	102.0					1																	168698284		2203	4300	6503	SO:0001819	synonymous_variant	1805				cell adhesion	extracellular space|proteinaceous extracellular matrix		g.chr1:168698284C>T	BC033736	CCDS1275.1	1q12-q23	2008-02-05			ENSG00000143196	ENSG00000143196			3011	protein-coding gene	gene with protein product		125597				8104875	Standard	NM_001937		Approved		uc001gfp.3	Q07507	OTTHUMG00000034554	ENST00000367817.3:c.129G>A	1.37:g.168698284C>T							p.R43R	NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN			1	218	-	all_hematologic(923;0.208)		43			2 X 53-55 AA tandem repeats.		A8K981|Q8N4R2|Q9UIX8	Silent	SNP	ENST00000367817.3	37	c.129G>A	CCDS1275.1																																																																																				0.542	DPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083618.1	NM_001937		4	64	0	0	0	0.009096	0	4	64				
HPS1	3257	broad.mit.edu	37	10	100177455	100177455	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr10:100177455G>A	ENST00000325103.6	-	20	2202	c.1969C>T	c.(1969-1971)Cgc>Tgc	p.R657C	HPS1_ENST00000361490.4_Missense_Mutation_p.R657C|HPS1_ENST00000467246.1_5'UTR|PYROXD2_ENST00000370575.4_5'Flank	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	657					blood coagulation (GO:0007596)|eye pigmentation (GO:0048069)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of natural killer cell activation (GO:0032816)|retina development in camera-type eye (GO:0060041)|secretion of lysosomal enzymes (GO:0033299)|visual perception (GO:0007601)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	protein dimerization activity (GO:0046983)	p.R657C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		TCGGTTGGGCGGTTCTTGCTG	0.662									Hermansky-Pudlak syndrome																													ENST00000325103.6																			1	Substitution - Missense(1)	p.R657C(1)	prostate(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						c.(1969-1971)Cgc>Tgc		Hermansky-Pudlak syndrome 1							69.0	63.0	65.0					10																	100177455		2203	4300	6503	SO:0001583	missense	3257	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity	g.chr10:100177455G>A	U79136	CCDS7475.1, CCDS7476.1	10q23.1-q23.3	2014-06-18		2002-05-01	ENSG00000107521	ENSG00000107521			5163	protein-coding gene	gene with protein product		604982	"""Hermansky-Pudlak syndrome"""	HPS		8541858, 7573033	Standard	NM_182639		Approved		uc021pwv.1	Q92902	OTTHUMG00000018876	ENST00000325103.6:c.1969C>T	10.37:g.100177455G>A	ENSP00000326649:p.Arg657Cys					HPS1_ENST00000361490.4_Missense_Mutation_p.R657C|HPS1_ENST00000467246.1_5'UTR	p.R657C	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)	20	2202	-		Colorectal(252;0.234)	657					A8MRT2|O15402|O15502|Q5TAA3|Q8WXE5	Missense_Mutation	SNP	ENST00000325103.6	37	c.1969C>T	CCDS7475.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.646100	0.67358	.	.	ENSG00000107521	ENST00000325103;ENST00000361490;ENST00000407891	T;T	0.33438	1.41;1.41	5.5	4.59	0.56863	.	0.252703	0.46442	D	0.000298	T	0.36880	0.0983	L	0.44542	1.39	0.80722	D	1	D;D	0.71674	0.998;0.997	P;P	0.52856	0.599;0.711	T	0.03524	-1.1028	10	0.38643	T	0.18	.	13.7676	0.63004	0.0735:0.0:0.9265:0.0	.	624;658	Q92902-2;D3DR62	.;.	C	657;657;624	ENSP00000326649:R657C;ENSP00000355310:R657C	ENSP00000326649:R657C	R	-	1	0	HPS1	100167445	1.000000	0.71417	0.998000	0.56505	0.533000	0.34776	7.607000	0.82883	2.593000	0.87608	0.456000	0.33151	CGC		0.662	HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049776.1	NM_000195, NM_182637, NM_182638, NM_182639		21	31	0	0	0	0.003330	0	21	31				
LIMK1	3984	broad.mit.edu	37	7	73498339	73498339	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr7:73498339T>G	ENST00000336180.2	+	1	70	c.19T>G	c.(19-21)Tgt>Ggt	p.C7G	LIMK1_ENST00000418310.1_Intron	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1	7					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|nervous system development (GO:0007399)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of axon extension (GO:0045773)|positive regulation of stress fiber assembly (GO:0051496)|protein phosphorylation (GO:0006468)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)	ATP binding (GO:0005524)|heat shock protein binding (GO:0031072)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)			Dabrafenib(DB08912)	GACGCTACTTTGTTGCACCTG	0.776																																						ENST00000336180.2																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						c.(19-21)Tgt>Ggt		LIM domain kinase 1							11.0	11.0	11.0					7																	73498339		2143	4193	6336	SO:0001583	missense	3984				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding	g.chr7:73498339T>G	D26309	CCDS5563.1, CCDS56491.1	7q11.23	2005-01-21			ENSG00000106683	ENSG00000106683			6613	protein-coding gene	gene with protein product		601329				8673124, 8812460	Standard	NM_002314		Approved	LIMK	uc003uaa.2	P53667	OTTHUMG00000023448	ENST00000336180.2:c.19T>G	7.37:g.73498339T>G	ENSP00000336740:p.Cys7Gly					LIMK1_ENST00000418310.1_Intron	p.C7G	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN			1	70	+		Lung NSC(55;0.137)	7					B7Z6I8|D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	Missense_Mutation	SNP	ENST00000336180.2	37	c.19T>G	CCDS5563.1	.	.	.	.	.	.	.	.	.	.	t	10.08	1.252214	0.22880	.	.	ENSG00000106683	ENST00000419043;ENST00000336180	T	0.74632	-0.86	2.77	2.77	0.32553	.	0.000000	0.85682	U	0.000000	T	0.67515	0.2901	L	0.60455	1.87	0.80722	D	1	B	0.18013	0.025	B	0.21708	0.036	T	0.66724	-0.5851	10	0.87932	D	0	.	7.4141	0.27034	0.0:0.0:0.0:1.0	.	7	P53667	LIMK1_HUMAN	G	7	ENSP00000336740:C7G	ENSP00000336740:C7G	C	+	1	0	LIMK1	73136275	1.000000	0.71417	1.000000	0.80357	0.193000	0.23685	4.471000	0.60182	1.043000	0.40175	0.156000	0.16432	TGT		0.776	LIMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252335.2	NM_002314		4	5	0	0	0	0.009096	0	4	5				
MALAT1	378938	broad.mit.edu	37	11	65269936	65269936	+	lincRNA	SNP	A	A	T			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr11:65269936A>T	ENST00000534336.1	+	0	4704					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		TCCATTGTTTAACTGCAAAAC	0.264																																						ENST00000534336.1																			0																				24.0	26.0	25.0					11																	65269936		874	1987	2861			0							g.chr11:65269936A>T	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65269936A>T								NR_002819.2						0	4704	+									RNA	SNP	ENST00000534336.1	37																																																																																						0.264	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		10	23	0	0	0	0.006214	0	10	23				
TBX19	9095	broad.mit.edu	37	1	168278015	168278015	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr1:168278015G>C	ENST00000367821.3	+	7	1003	c.952G>C	c.(952-954)Gtt>Ctt	p.V318L	TBX19_ENST00000465440.1_3'UTR	NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	318					anatomical structure morphogenesis (GO:0009653)|cell fate commitment (GO:0045165)|pituitary gland development (GO:0021983)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V318L(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					TAATCTGCAAGTTTTCTCGGG	0.463																																						ENST00000367821.3																			1	Substitution - Missense(1)	p.V318L(1)	prostate(1)	NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34						c.(952-954)Gtt>Ctt		T-box 19							144.0	132.0	136.0					1																	168278015		2203	4300	6503	SO:0001583	missense	9095				anatomical structure morphogenesis	nucleus	DNA binding	g.chr1:168278015G>C	AJ010277	CCDS1272.1	1q23-q24	2008-02-05			ENSG00000143178	ENSG00000143178		"""T-boxes"""	11596	protein-coding gene	gene with protein product	"""TBS 19"""	604614				9888994	Standard	NM_005149		Approved	dj747L4.1, TPIT	uc001gfl.3	O60806	OTTHUMG00000034648	ENST00000367821.3:c.952G>C	1.37:g.168278015G>C	ENSP00000356795:p.Val318Leu					TBX19_ENST00000465440.1_3'UTR	p.V318L	NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN			7	1003	+	all_hematologic(923;0.215)		318					Q52M53	Missense_Mutation	SNP	ENST00000367821.3	37	c.952G>C	CCDS1272.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.04|13.04	2.119207|2.119207	0.37436|0.37436	.|.	.|.	ENSG00000143178|ENSG00000143178	ENST00000431969;ENST00000441464|ENST00000367821;ENST00000367828	.|D	.|0.94537	.|-3.45	5.46|5.46	4.55|4.55	0.56014|0.56014	.|.	.|0.169040	.|0.37219	.|N	.|0.002199	D|D	0.94311|0.94311	0.8172|0.8172	L|L	0.54323|0.54323	1.7|1.7	.|0.09310	.|N	.|0.999998	.|D;D	.|0.58970	.|0.984;0.984	.|D;D	.|0.70016	.|0.967;0.956	D|D	0.92808|0.92808	0.6262|0.6262	4|9	.|0.21540	.|T	.|0.41	.|.	14.3979|14.3979	0.67022|0.67022	0.0:0.1476:0.8524:0.0|0.0:0.1476:0.8524:0.0	.|.	.|318;186	.|O60806;B3KRD9	.|TBX19_HUMAN;.	T|L	187;150|318;195	.|ENSP00000356795:V318L	.|ENSP00000356795:V318L	S|V	+|+	2|1	0|0	TBX19|TBX19	166544639|166544639	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.709000|3.709000	0.54853|0.54853	1.290000|1.290000	0.44636|0.44636	-0.150000|-0.150000	0.13652|0.13652	AGT|GTT		0.463	TBX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083825.1	NM_005149		3	92	0	0	0	0.004672	0	3	92				
S100A8	6279	broad.mit.edu	37	1	153362715	153362715	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	c92e4a08-8313-44d3-98b2-07d089ae97ff	g.chr1:153362715T>C	ENST00000368733.3	-	3	315	c.146A>G	c.(145-147)aAg>aGg	p.K49R	S100A8_ENST00000477801.1_5'UTR|S100A8_ENST00000368732.1_Missense_Mutation_p.K49R	NM_002964.4	NP_002955.2	P05109	S10A8_HUMAN	S100 calcium binding protein A8	49	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|acute inflammatory response (GO:0002526)|autophagy (GO:0006914)|chemokine production (GO:0032602)|chronic inflammatory response (GO:0002544)|cytokine production (GO:0001816)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|neutrophil aggregation (GO:0070488)|neutrophil chemotaxis (GO:0030593)|positive regulation of cell growth (GO:0030307)|positive regulation of inflammatory response (GO:0050729)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of cytoskeleton organization (GO:0051493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to zinc ion (GO:0010043)|sequestering of zinc ion (GO:0032119)|wound healing (GO:0042060)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonic acid binding (GO:0050544)|calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|RAGE receptor binding (GO:0050786)|Toll-like receptor 4 binding (GO:0035662)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTCTGCACCCTTTTTCTGTCA	0.507																																						ENST00000368733.3																			0				breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4						c.(145-147)aAg>aGg		S100 calcium binding protein A8							115.0	115.0	115.0					1																	153362715		2203	4300	6503	SO:0001583	missense	6279				chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding	g.chr1:153362715T>C	BC005928	CCDS1038.1	1q12-q22	2013-01-10	2006-09-11		ENSG00000143546	ENSG00000143546		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10498	protein-coding gene	gene with protein product		123885	"""S100 calcium-binding protein A8 (calgranulin A)"", ""S100 calcium binding protein A8 (calgranulin A)"""	CAGA, CFAG			Standard	NM_002964		Approved	P8, MRP8, 60B8AG, CGLA	uc001fbs.3	P05109	OTTHUMG00000013124	ENST00000368733.3:c.146A>G	1.37:g.153362715T>C	ENSP00000357722:p.Lys49Arg					S100A8_ENST00000477801.1_5'UTR|S100A8_ENST00000368732.1_Missense_Mutation_p.K49R	p.K49R	NM_002964.4	NP_002955.2	P05109	S10A8_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	315	-	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		49			EF-hand 2.		A8K5L3|D3DV37|Q5SY70|Q9UC84|Q9UC92|Q9UCJ0|Q9UCM6	Missense_Mutation	SNP	ENST00000368733.3	37	c.146A>G	CCDS1038.1	.	.	.	.	.	.	.	.	.	.	.	11.89	1.773606	0.31411	.	.	ENSG00000143546	ENST00000368733;ENST00000368732	T;T	0.07021	3.23;3.23	4.37	2.01	0.26516	EF-hand-like domain (1);	0.146302	0.64402	N	0.000011	T	0.01523	0.0049	.	.	.	0.09310	N	1	B	0.18741	0.03	B	0.17098	0.017	T	0.45877	-0.9231	9	0.36615	T	0.2	.	3.8238	0.08846	0.1858:0.1009:0.0:0.7134	.	49	P05109	S10A8_HUMAN	R	49	ENSP00000357722:K49R;ENSP00000357721:K49R	ENSP00000357721:K49R	K	-	2	0	S100A8	151629339	0.137000	0.22531	0.024000	0.17045	0.196000	0.23810	1.062000	0.30555	0.437000	0.26423	0.524000	0.50904	AAG		0.507	S100A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036791.1	NM_002964		3	149	0	0	0	0.004672	0	3	149				
CR1	1378	broad.mit.edu	37	1	207787753	207787753	+	Nonsense_Mutation	SNP	C	C	T	rs55749440		TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	c92e4a08-8313-44d3-98b2-07d089ae97ff	g.chr1:207787753C>T	ENST00000367049.4	+	40	6580	c.6580C>T	c.(6580-6582)Cga>Tga	p.R2194*	CR1_ENST00000367053.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367052.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367051.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000400960.2_Nonsense_Mutation_p.R1744*	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1744					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)	p.R1749*(9)|p.R2194*(9)|p.R1744*(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTTTAGGTTCCGATTAAAAGG	0.423																																						ENST00000367049.4																			19	Substitution - Nonsense(19)	p.R1749*(9)|p.R2194*(9)|p.R1744*(1)	lung(6)|endometrium(6)|prostate(3)|kidney(2)|central_nervous_system(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(6580-6582)Cga>Tga		complement component (3b/4b) receptor 1 (Knops blood group)							103.0	94.0	97.0					1																	207787753		1868	4107	5975	SO:0001587	stop_gained	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207787753C>T	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.6580C>T	1.37:g.207787753C>T	ENSP00000356016:p.Arg2194*					CR1_ENST00000400960.2_Nonsense_Mutation_p.R1744*|CR1_ENST00000367051.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367053.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367052.1_Nonsense_Mutation_p.R1744*	p.R2194*	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN			40	6580	+			1744					Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Nonsense_Mutation	SNP	ENST00000367049.4	37	c.6580C>T	CCDS44308.1	.	.	.	.	.	.	.	.	.	.	C	44	11.182593	0.99528	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	.	.	.	4.29	2.39	0.29439	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.5152	0.27596	0.0:0.7891:0.0:0.2109	rs55749440	.	.	.	X	1744;1744;1744;1744;2194	.	ENSP00000356016:R2194X	R	+	1	2	CR1	205854376	0.129000	0.22400	0.370000	0.25965	0.352000	0.29268	0.213000	0.17521	0.518000	0.28383	0.436000	0.28706	CGA		0.423	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		3	47	0	0	0	0.009096	0	3	47				
SPTBN2	6712	broad.mit.edu	37	11	66457286	66457286	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	c92e4a08-8313-44d3-98b2-07d089ae97ff	g.chr11:66457286G>A	ENST00000533211.1	-	29	6270	c.5939C>T	c.(5938-5940)gCg>gTg	p.A1980V	SPTBN2_ENST00000309996.2_Missense_Mutation_p.A1980V|SPTBN2_ENST00000529997.1_Missense_Mutation_p.A1980V			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1980					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CTCCTCGGCCGCATAGTGGCT	0.602																																						ENST00000533211.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(5938-5940)gCg>gTg		spectrin, beta, non-erythrocytic 2							92.0	99.0	97.0					11																	66457286		2200	4295	6495	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66457286G>A	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.5939C>T	11.37:g.66457286G>A	ENSP00000432568:p.Ala1980Val					SPTBN2_ENST00000309996.2_Missense_Mutation_p.A1980V|SPTBN2_ENST00000529997.1_Missense_Mutation_p.A1980V	p.A1980V			O15020	SPTN2_HUMAN			29	6270	-			1980					O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.5939C>T	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	G	33	5.284480	0.95517	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.54279	0.58;0.58;0.58	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	T	0.73171	0.3553	M	0.88906	2.99	0.80722	D	1	D	0.76494	0.999	P	0.59221	0.854	T	0.74768	-0.3553	10	0.33141	T	0.24	.	17.4906	0.87702	0.0:0.0:1.0:0.0	.	1980	O15020	SPTN2_HUMAN	V	1980	ENSP00000432568:A1980V;ENSP00000311489:A1980V;ENSP00000433593:A1980V	ENSP00000311489:A1980V	A	-	2	0	SPTBN2	66213862	1.000000	0.71417	0.814000	0.32528	0.895000	0.52256	5.519000	0.67074	2.664000	0.90586	0.655000	0.94253	GCG		0.602	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		4	141	0	0	0	0.009096	0	4	141				
TTN	7273	broad.mit.edu	37	2	179412752	179412752	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	c92e4a08-8313-44d3-98b2-07d089ae97ff	g.chr2:179412752A>G	ENST00000591111.1	-	289	88902	c.88678T>C	c.(88678-88680)Ttc>Ctc	p.F29560L	TTN_ENST00000342992.6_Missense_Mutation_p.F28633L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.F31201L|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.F22261L|TTN_ENST00000460472.2_Missense_Mutation_p.F22136L|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.F22328L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29560	Fibronectin type-III 115. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.F22136L(2)|p.F22261L(1)|p.F28633L(1)|p.F28631L(1)|p.F22328L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAGAAGAGAAGGCTTCTCTG	0.443																																						ENST00000589042.1																			6	Substitution - Missense(6)	p.F22136L(2)|p.F22261L(1)|p.F28633L(1)|p.F28631L(1)|p.F22328L(1)	prostate(6)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(93601-93603)Ttc>Ctc		titin							63.0	66.0	65.0					2																	179412752		1928	4134	6062	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179412752A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.88678T>C	2.37:g.179412752A>G	ENSP00000465570:p.Phe29560Leu					TTN_ENST00000342992.6_Missense_Mutation_p.F28633L|TTN_ENST00000359218.5_Missense_Mutation_p.F22261L|TTN_ENST00000460472.2_Missense_Mutation_p.F22136L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.F22328L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.F29560L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA	p.F31201L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		339	93825	-			29560			Fibronectin type-III 127.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.93601T>C		.	.	.	.	.	.	.	.	.	.	A	14.28	2.488554	0.44249	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	5.92	5.92	0.95590	Fibronectin, type III (2);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.30198	0.0757	N	0.04320	-0.23	0.80722	D	1	B;B;B;B	0.21753	0.06;0.06;0.06;0.06	B;B;B;B	0.17433	0.018;0.018;0.018;0.018	T	0.15665	-1.0429	9	0.87932	D	0	.	16.3526	0.83220	1.0:0.0:0.0:0.0	.	22136;22261;22328;29560	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	28633;22136;22328;22261;22133	ENSP00000343764:F28633L;ENSP00000434586:F22136L;ENSP00000340554:F22328L;ENSP00000352154:F22261L	ENSP00000340554:F22328L	F	-	1	0	TTN	179120998	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.933000	0.70130	2.255000	0.74692	0.533000	0.62120	TTC		0.443	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		33	52	0	0	0	0.012213	0	33	52				
CABP5	56344	broad.mit.edu	37	19	48533840	48533840	+	Splice_Site	SNP	C	C	T			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	c92e4a08-8313-44d3-98b2-07d089ae97ff	g.chr19:48533840C>T	ENST00000293255.2	-	6	627		c.e6-1			NM_019855.4	NP_062829.1	Q9NP86	CABP5_HUMAN	calcium binding protein 5						signal transduction (GO:0007165)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)	p.?(1)		endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		TTCACAAACTCTGCAAAGAAA	0.493																																						ENST00000293255.2																			1	Unknown(1)	p.?(1)	prostate(1)	endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11						c.e6-1		calcium binding protein 5							81.0	82.0	82.0					19																	48533840		2203	4300	6503	SO:0001630	splice_region_variant	56344				signal transduction	cytoplasm	calcium ion binding	g.chr19:48533840C>T	AF169159	CCDS12709.1	19q13.33	2014-08-12			ENSG00000105507	ENSG00000105507		"""EF-hand domain containing"""	13714	protein-coding gene	gene with protein product		607315	"""calcium binding protein 3"""	CABP3		10625670	Standard	NM_019855		Approved	CaBP3	uc002phu.2	Q9NP86	OTTHUMG00000183139	ENST00000293255.2:c.497-1G>A	19.37:g.48533840C>T								NM_019855.4	NP_062829.1	Q9NP86	CABP5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)	6	627	-		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)						A0AUY4	Splice_Site	SNP	ENST00000293255.2	37		CCDS12709.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.294491	0.81025	.	.	ENSG00000105507	ENST00000293255	.	.	.	5.31	5.31	0.75309	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.92	0.86161	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CABP5	53225652	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.478000	0.73596	2.676000	0.91093	0.650000	0.86243	.		0.493	CABP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465212.1	NM_019855	Intron	31	62	0	0	0	0.003755	0	31	62				
KCNJ11	3767	broad.mit.edu	37	11	17409276	17409276	+	Silent	SNP	G	G	A			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	c92e4a08-8313-44d3-98b2-07d089ae97ff	g.chr11:17409276G>A	ENST00000339994.4	-	1	930	c.363C>T	c.(361-363)ttC>ttT	p.F121F	KCNJ11_ENST00000528731.1_Silent_p.F34F|KCNJ11_ENST00000526747.1_5'Flank	NM_000525.3	NP_000516.3	Q14654	KCJ11_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	121					cellular response to glucose stimulus (GO:0071333)|cellular response to nicotine (GO:0071316)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|negative regulation of insulin secretion (GO:0046676)|neurological system process (GO:0050877)|positive regulation of cation channel activity (GO:2001259)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ischemia (GO:0002931)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	ATP-sensitive potassium channel complex (GO:0008282)|axolemma (GO:0030673)|cell body fiber (GO:0070852)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|ion channel binding (GO:0044325)|potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)	p.F121F(1)		endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	Diazoxide(DB01119)|Glimepiride(DB00222)|Glyburide(DB01016)|Ibutilide(DB00308)|Levosimendan(DB00922)|Thiamylal(DB01154)|Verapamil(DB00661)|Yohimbine(DB01392)	TGGAGAAAAGGAAGGCAGACG	0.607																																						ENST00000339994.4																			1	Substitution - coding silent(1)	p.F121F(1)	prostate(1)	endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16						c.(361-363)ttC>ttT		potassium inwardly-rectifying channel, subfamily J, member 11							124.0	98.0	107.0					11																	17409276		2200	4293	6493	SO:0001819	synonymous_variant	3767					integral to membrane	ATP-activated inward rectifier potassium channel activity	g.chr11:17409276G>A	D50582	CCDS31436.1, CCDS53606.1	11p15.1	2011-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6257	protein-coding gene	gene with protein product		600937				7502040, 16382105	Standard	NM_001166290		Approved	Kir6.2, BIR	uc001mna.3	Q14654		ENST00000339994.4:c.363C>T	11.37:g.17409276G>A						KCNJ11_ENST00000528731.1_Silent_p.F34F	p.F121F	NM_000525.3	NP_000516.3	B4DWI4	B4DWI4_HUMAN		READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	1	930	-			34					B4DWI4|E9PNK0|Q2M1H7|Q58EX3|Q8IW96	Silent	SNP	ENST00000339994.4	37	c.363C>T	CCDS31436.1	.	.	.	.	.	.	.	.	.	.	G	4.664	0.123395	0.08931	.	.	ENSG00000187486	ENST00000528992	.	.	.	5.02	4.11	0.48088	.	.	.	.	.	T	0.68035	0.2957	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66504	-0.5907	4	.	.	.	.	13.1236	0.59340	0.0787:0.0:0.9213:0.0	.	.	.	.	F	127	.	.	S	-	2	0	KCNJ11	17365852	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	3.549000	0.53681	1.126000	0.42016	0.462000	0.41574	TCC		0.607	KCNJ11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387037.1	NM_000525		8	41	0	0	0	0.006214	0	8	41				
STARD3	10948	broad.mit.edu	37	17	37814071	37814071	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	c92e4a08-8313-44d3-98b2-07d089ae97ff	g.chr17:37814071C>T	ENST00000336308.5	+	4	559	c.341C>T	c.(340-342)gCc>gTc	p.A114V	STARD3_ENST00000578232.1_3'UTR|STARD3_ENST00000544210.2_Missense_Mutation_p.A114V|STARD3_ENST00000580611.1_Missense_Mutation_p.A88V|STARD3_ENST00000394250.4_Missense_Mutation_p.A114V	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	StAR-related lipid transfer (START) domain containing 3	114	MENTAL. {ECO:0000255|PROSITE- ProRule:PRU00770}.				cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|mitochondrial transport (GO:0006839)|progesterone biosynthetic process (GO:0006701)|steroid metabolic process (GO:0008202)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	cholesterol binding (GO:0015485)	p.A114V(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14	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;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CTAGGCTATGCCGTGCTGCGG	0.647																																						ENST00000336308.5																			1	Substitution - Missense(1)	p.A114V(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|prostate(2)|stomach(1)	14						c.(340-342)gCc>gTc		StAR-related lipid transfer (START) domain containing 3							102.0	106.0	105.0					17																	37814071		2203	4300	6503	SO:0001583	missense	0				cholesterol metabolic process|mitochondrial transport|steroid biosynthetic process	integral to membrane|late endosome membrane	cholesterol binding|cholesterol transporter activity	g.chr17:37814071C>T		CCDS11341.1, CCDS54117.1, CCDS54118.1	17q11-q12	2011-09-12	2007-08-16		ENSG00000131748	ENSG00000131748		"""StAR-related lipid transfer (START) domain containing"""	17579	protein-coding gene	gene with protein product		607048	"""START domain containing 3"""				Standard	NM_006804		Approved	es64, MLN64	uc002hsd.3	Q14849	OTTHUMG00000133213	ENST00000336308.5:c.341C>T	17.37:g.37814071C>T	ENSP00000337446:p.Ala114Val					STARD3_ENST00000580611.1_Missense_Mutation_p.A88V|STARD3_ENST00000544210.2_Missense_Mutation_p.A114V|STARD3_ENST00000578232.1_3'UTR|STARD3_ENST00000394250.4_Missense_Mutation_p.A114V	p.A114V	NM_001165937.1|NM_006804.3	NP_001159409.1|NP_006795.3	Q14849	STAR3_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		4	559	+	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		114			MENTAL.		A8MXA4|B4DUY1|F5H0G2|Q53Y53|Q96HM9	Missense_Mutation	SNP	ENST00000336308.5	37	c.341C>T	CCDS11341.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.730869	0.48939	.	.	ENSG00000131748	ENST00000336308;ENST00000544210;ENST00000394250;ENST00000443521	T;T;T;T	0.56275	0.47;0.47;0.47;0.47	4.38	4.38	0.52667	MENTAL domain (2);	0.000000	0.85682	D	0.000000	T	0.74321	0.3701	M	0.80982	2.52	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	0.999;0.996;1.0;1.0	T	0.79862	-0.1624	10	0.87932	D	0	.	17.3051	0.87192	0.0:1.0:0.0:0.0	.	114;114;114;114	F5H0G2;B4DWG5;A8MXA4;Q14849	.;.;.;STAR3_HUMAN	V	114	ENSP00000337446:A114V;ENSP00000439869:A114V;ENSP00000377794:A114V;ENSP00000411710:A114V	ENSP00000337446:A114V	A	+	2	0	STARD3	35067597	1.000000	0.71417	0.076000	0.20297	0.579000	0.36224	7.381000	0.79718	2.125000	0.65367	0.561000	0.74099	GCC		0.647	STARD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256933.1			4	90	0	0	0	0.009096	0	4	90				
CCDC34	91057	broad.mit.edu	37	11	27379087	27379087	+	Splice_Site	SNP	T	T	C			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	c92e4a08-8313-44d3-98b2-07d089ae97ff	g.chr11:27379087T>C	ENST00000328697.6	-	2	1034	c.361A>G	c.(361-363)Act>Gct	p.T121A	CCDC34_ENST00000317945.6_Splice_Site_p.T121A	NM_030771.1	NP_110398.1	Q96HJ3	CCD34_HUMAN	coiled-coil domain containing 34	121								p.T121A(2)		endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						TCAACCTGAGTGCTACAAAAG	0.398																																						ENST00000317945.6																			2	Substitution - Missense(2)	p.T121A(2)	prostate(2)	endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|urinary_tract(1)	9						c.e2-1		coiled-coil domain containing 34							118.0	110.0	113.0					11																	27379087		2202	4299	6501	SO:0001630	splice_region_variant	91057							g.chr11:27379087T>C	AF382034	CCDS7863.1, CCDS31448.1	11p14.1	2010-03-30			ENSG00000109881	ENSG00000109881			25079	protein-coding gene	gene with protein product		612324				11173847	Standard	NM_080654		Approved	NY-REN-41, L15, RAMA3	uc001mrh.1	Q96HJ3	OTTHUMG00000166211	ENST00000328697.6:c.360-1A>G	11.37:g.27379087T>C						CCDC34_ENST00000328697.6_Splice_Site_p.T121_splice	p.T121_splice	NM_080654.2	NP_542385.1	Q96HJ3	CCD34_HUMAN			2	400	-			121					B2R8G2|Q8IX69|Q9H2A6|Q9Y599	Splice_Site	SNP	ENST00000328697.6	37	c.359_splice	CCDS31448.1	.	.	.	.	.	.	.	.	.	.	T	8.958	0.969909	0.18659	.	.	ENSG00000109881	ENST00000328697;ENST00000317945	T;T	0.21734	1.99;1.99	5.17	-0.093	0.13652	.	1.051550	0.07402	N	0.891014	T	0.08758	0.0217	N	0.14661	0.345	0.09310	N	1	B;B	0.09022	0.002;0.0	B;B	0.04013	0.001;0.001	T	0.34477	-0.9827	10	0.05351	T	0.99	1.6188	3.329	0.07077	0.2718:0.1758:0.0:0.5524	.	121;121	Q96HJ3-2;Q96HJ3	.;CCD34_HUMAN	A	121	ENSP00000330240:T121A;ENSP00000321563:T121A	ENSP00000321563:T121A	T	-	1	0	CCDC34	27335663	0.007000	0.16637	0.000000	0.03702	0.179000	0.23085	1.496000	0.35638	-0.110000	0.12022	-0.263000	0.10527	ACT		0.398	CCDC34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388396.2	NM_030771	Missense_Mutation	17	75	0	0	0	0.004990	0	17	75				
DENND2D	79961	broad.mit.edu	37	1	111737241	111737241	+	Silent	SNP	G	G	A			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	c92e4a08-8313-44d3-98b2-07d089ae97ff	g.chr1:111737241G>A	ENST00000357640.4	-	7	982	c.753C>T	c.(751-753)gcC>gcT	p.A251A	DENND2D_ENST00000369752.5_Silent_p.A248A|DENND2D_ENST00000473682.1_5'Flank	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	251	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.A251A(1)		breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		TCTCCAGCACGGCAGAGGCAA	0.537																																						ENST00000357640.4																			1	Substitution - coding silent(1)	p.A251A(1)	prostate(1)	breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25						c.(751-753)gcC>gcT		DENN/MADD domain containing 2D							60.0	63.0	62.0					1																	111737241		2203	4300	6503	SO:0001819	synonymous_variant	79961							g.chr1:111737241G>A		CCDS831.1, CCDS60219.1	1p13.3	2014-02-12	2005-08-17		ENSG00000162777	ENSG00000162777		"""DENN/MADD domain containing"""	26192	protein-coding gene	gene with protein product		615111				12477932	Standard	NM_024901		Approved	FLJ22457, RP5-1180E21.2	uc001eal.2	Q9H6A0	OTTHUMG00000012356	ENST00000357640.4:c.753C>T	1.37:g.111737241G>A						DENND2D_ENST00000369752.5_Silent_p.A248A	p.A251A	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)	7	982	-		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)	251			DENN.		Q5T5V6|Q9BSU0	Silent	SNP	ENST00000357640.4	37	c.753C>T	CCDS831.1																																																																																				0.537	DENND2D-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000034456.1	NM_024901		13	55	0	0	0	0.001855	0	13	55				
KCNJ11	3767	broad.mit.edu	37	11	17409274	17409274	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	c92e4a08-8313-44d3-98b2-07d089ae97ff	g.chr11:17409274A>C	ENST00000339994.4	-	1	932	c.365T>G	c.(364-366)cTt>cGt	p.L122R	KCNJ11_ENST00000528731.1_Missense_Mutation_p.L35R|KCNJ11_ENST00000526747.1_5'Flank	NM_000525.3	NP_000516.3	Q14654	KCJ11_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	122					cellular response to glucose stimulus (GO:0071333)|cellular response to nicotine (GO:0071316)|cellular response to tumor necrosis factor (GO:0071356)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|negative regulation of insulin secretion (GO:0046676)|neurological system process (GO:0050877)|positive regulation of cation channel activity (GO:2001259)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ischemia (GO:0002931)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	ATP-sensitive potassium channel complex (GO:0008282)|axolemma (GO:0030673)|cell body fiber (GO:0070852)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|mitochondrion (GO:0005739)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|ion channel binding (GO:0044325)|potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)	p.L122R(1)		endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	Diazoxide(DB01119)|Glimepiride(DB00222)|Glyburide(DB01016)|Ibutilide(DB00308)|Levosimendan(DB00922)|Thiamylal(DB01154)|Verapamil(DB00661)|Yohimbine(DB01392)	AATGGAGAAAAGGAAGGCAGA	0.607																																						ENST00000339994.4																			1	Substitution - Missense(1)	p.L122R(1)	prostate(1)	endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16						c.(364-366)cTt>cGt		potassium inwardly-rectifying channel, subfamily J, member 11							123.0	98.0	106.0					11																	17409274		2200	4293	6493	SO:0001583	missense	3767					integral to membrane	ATP-activated inward rectifier potassium channel activity	g.chr11:17409274A>C	D50582	CCDS31436.1, CCDS53606.1	11p15.1	2011-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6257	protein-coding gene	gene with protein product		600937				7502040, 16382105	Standard	NM_001166290		Approved	Kir6.2, BIR	uc001mna.3	Q14654		ENST00000339994.4:c.365T>G	11.37:g.17409274A>C	ENSP00000345708:p.Leu122Arg					KCNJ11_ENST00000528731.1_Missense_Mutation_p.L35R	p.L122R	NM_000525.3	NP_000516.3	B4DWI4	B4DWI4_HUMAN		READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)	1	932	-			35					B4DWI4|E9PNK0|Q2M1H7|Q58EX3|Q8IW96	Missense_Mutation	SNP	ENST00000339994.4	37	c.365T>G	CCDS31436.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.50|14.50	2.552866|2.552866	0.45487|0.45487	.|.	.|.	ENSG00000187486|ENSG00000187486	ENST00000528992|ENST00000339994;ENST00000528731;ENST00000526912	.|D;D;D	.|0.96200	.|-3.94;-3.94;-3.94	5.02|5.02	5.02|5.02	0.67125|0.67125	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95297|0.95297	0.8474|0.8474	M|M	0.87547|0.87547	2.89|2.89	0.80722|0.80722	D|D	1|1	.|B	.|0.31519	.|0.327	.|B	.|0.28011	.|0.085	D|D	0.95048|0.95048	0.8184|0.8184	5|10	.|0.72032	.|D	.|0.01	.|.	14.4217|14.4217	0.67187|0.67187	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|122	.|B2RC52	.|.	V|R	128|122;35;35	.|ENSP00000345708:L122R;ENSP00000434755:L35R;ENSP00000432729:L35R	.|ENSP00000345708:L122R	F|L	-|-	1|2	0|0	KCNJ11|KCNJ11	17365850|17365850	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.938000|0.938000	0.57974|0.57974	9.339000|9.339000	0.96797|0.96797	1.896000|1.896000	0.54893|0.54893	0.379000|0.379000	0.24179|0.24179	TTT|CTT		0.607	KCNJ11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387037.1	NM_000525		8	41	0	0	0	0.004482	0	8	41				
KRT222	125113	broad.mit.edu	37	17	38821349	38821349	+	Start_Codon_SNP	SNP	C	C	A			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	c92e4a08-8313-44d3-98b2-07d089ae97ff	g.chr17:38821349C>A	ENST00000476049.1	-	1	44	c.3G>T	c.(1-3)atG>atT	p.M1I	AC073508.1_ENST00000607244.1_RNA|KRT222_ENST00000394052.3_Start_Codon_SNP_p.M1I			Q8N1A0	KT222_HUMAN	keratin 222	1						intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.M1I(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						GGGACAGTTCCATTCTTTTCC	0.512																																						ENST00000476049.1																			1	Substitution - Missense(1)	p.M1I(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						c.(1-3)atG>atT		keratin 222							240.0	218.0	226.0					17																	38821349		2203	4300	6503	SO:0001582	initiator_codon_variant	125113					intermediate filament	structural molecule activity	g.chr17:38821349C>A	AK092967	CCDS11371.1	17q21.2	2013-06-25	2009-08-25	2009-08-25	ENSG00000213424	ENSG00000213424		"""-"""	28695	protein-coding gene	gene with protein product			"""keratin 222 pseudogene"""	KRT222P		16831889	Standard	NM_152349		Approved	KA21, MGC45562	uc002hvc.2	Q8N1A0	OTTHUMG00000133374	ENST00000476049.1:c.3G>T	17.37:g.38821349C>A	ENSP00000463483:p.Met1Ile					KRT222_ENST00000394052.3_Start_Codon_SNP_p.M1I	p.M1I			Q8N1A0	KT222_HUMAN			1	44	-			1					Q7Z368	Translation_Start_Site	SNP	ENST00000476049.1	37	c.3G>T	CCDS11371.1	.	.	.	.	.	.	.	.	.	.	C	17.42	3.385195	0.61956	.	.	ENSG00000213424	ENST00000394052	D	0.84873	-1.91	5.74	5.74	0.90152	.	0.142087	0.41938	U	0.000797	D	0.86715	0.5999	.	.	.	0.80722	D	1	P	0.43169	0.8	P	0.46718	0.525	D	0.84522	0.0628	9	0.33141	T	0.24	-16.4474	19.9145	0.97053	0.0:1.0:0.0:0.0	.	1	Q8N1A0	KT222_HUMAN	I	1	ENSP00000377616:M1I	ENSP00000377616:M1I	M	-	3	0	KRT222	36074875	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.409000	0.66374	2.709000	0.92574	0.655000	0.94253	ATG		0.512	KRT222-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000447539.1	NM_152349	Missense_Mutation	4	125	1	0	0.00024832	0.009096	0.000301154	4	125				
MPEG1	219972	broad.mit.edu	37	11	58978336	58978336	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	c92e4a08-8313-44d3-98b2-07d089ae97ff	g.chr11:58978336A>C	ENST00000361050.3	-	1	2088	c.2003T>G	c.(2002-2004)cTg>cGg	p.L668R		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	668						integral component of membrane (GO:0016021)		p.L668R(1)		NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				AACAACAGCCAGAATGGTGGT	0.557																																						ENST00000361050.3																			1	Substitution - Missense(1)	p.L668R(1)	prostate(1)	NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(2002-2004)cTg>cGg		macrophage expressed 1							120.0	126.0	124.0					11																	58978336		2044	4178	6222	SO:0001583	missense	219972					integral to membrane		g.chr11:58978336A>C	AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"""macrophage expressed gene 1"""	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.2003T>G	11.37:g.58978336A>C	ENSP00000354335:p.Leu668Arg						p.L668R	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN			1	2088	-		all_epithelial(135;0.125)	668					Q2M1T6|Q8TEF8	Missense_Mutation	SNP	ENST00000361050.3	37	c.2003T>G	CCDS41650.1	.	.	.	.	.	.	.	.	.	.	A	13.58	2.280229	0.40294	.	.	ENSG00000197629	ENST00000361050	T	0.29142	1.58	5.69	5.69	0.88448	.	0.143329	0.48286	D	0.000193	T	0.51398	0.1672	M	0.64997	1.995	0.44719	D	0.997717	D	0.89917	1.0	D	0.69307	0.963	T	0.53989	-0.8360	10	0.87932	D	0	-10.1694	13.4674	0.61263	1.0:0.0:0.0:0.0	.	668	Q2M385	MPEG1_HUMAN	R	668	ENSP00000354335:L668R	ENSP00000354335:L668R	L	-	2	0	MPEG1	58734912	1.000000	0.71417	0.527000	0.27925	0.063000	0.16089	7.592000	0.82676	2.166000	0.68216	0.533000	0.62120	CTG		0.557	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370027.1	NM_001039396		32	79	0	0	0	0.013726	0	32	79				
OR10G8	219869	broad.mit.edu	37	11	123900753	123900753	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	c92e4a08-8313-44d3-98b2-07d089ae97ff	g.chr11:123900753C>T	ENST00000431524.1	+	1	457	c.424C>T	c.(424-426)Ctt>Ttt	p.L142F		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	142						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L142F(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CTCGTGTACTCTTCTGGCCAC	0.557																																						ENST00000431524.1																			1	Substitution - Missense(1)	p.L142F(1)	prostate(1)	breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(424-426)Ctt>Ttt		olfactory receptor, family 10, subfamily G, member 8							162.0	148.0	153.0					11																	123900753		2201	4299	6500	SO:0001583	missense	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900753C>T	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.424C>T	11.37:g.123900753C>T	ENSP00000389072:p.Leu142Phe						p.L142F	NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	457	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	142					B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	c.424C>T	CCDS31704.1	.	.	.	.	.	.	.	.	.	.	C	0.940	-0.710004	0.03230	.	.	ENSG00000234560	ENST00000431524	T	0.00188	8.59	3.04	2.11	0.27256	GPCR, rhodopsin-like superfamily (1);	0.846972	0.09830	N	0.750276	T	0.00178	0.0005	L	0.50993	1.605	0.09310	N	1	B	0.15141	0.012	B	0.24269	0.052	T	0.18023	-1.0350	10	0.27785	T	0.31	.	6.2922	0.21067	0.0:0.7524:0.0:0.2476	.	142	Q8NGN5	O10G8_HUMAN	F	142	ENSP00000389072:L142F	ENSP00000389072:L142F	L	+	1	0	OR10G8	123405963	0.000000	0.05858	0.401000	0.26359	0.006000	0.05464	-3.214000	0.00555	0.589000	0.29677	0.650000	0.86243	CTT		0.557	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		6	152	0	0	0	0.001168	0	6	152				
ATF6B	1388	broad.mit.edu	37	6	32093899	32093899	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	c92e4a08-8313-44d3-98b2-07d089ae97ff	g.chr6:32093899G>T	ENST00000375203.3	-	5	505	c.473C>A	c.(472-474)tCc>tAc	p.S158Y	ATF6B_ENST00000468502.1_5'UTR|ATF6B_ENST00000375201.4_Missense_Mutation_p.S155Y	NM_001136153.1|NM_004381.4	NP_001129625.1|NP_004372.3	Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	158					response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S158Y(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						ATTACCTGAGGAATCATCAGA	0.507																																						ENST00000375201.4																			1	Substitution - Missense(1)	p.S158Y(1)	prostate(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						c.(463-465)tCc>tAc		activating transcription factor 6 beta							151.0	135.0	140.0					6																	32093899		2203	4300	6503	SO:0001583	missense	1388				response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:32093899G>T		CCDS47408.1, CCDS4737.1	6p21.3	2013-01-10	2008-10-21	2008-10-21	ENSG00000213676	ENSG00000213676		"""basic leucine zipper proteins"""	2349	protein-coding gene	gene with protein product		600984	"""cAMP responsive element binding protein-like 1"""	CREBL1		11256944, 14973138	Standard	NM_004381		Approved	G13	uc003nzn.3	Q99941	OTTHUMG00000031296	ENST00000375203.3:c.473C>A	6.37:g.32093899G>T	ENSP00000364349:p.Ser158Tyr					ATF6B_ENST00000375203.3_Missense_Mutation_p.S158Y|ATF6B_ENST00000468502.1_5'UTR	p.S155Y			Q99941	ATF6B_HUMAN			5	509	-			158					B0UYX6|Q13269|Q14343|Q14345|Q5SSW7|Q99635|Q99637|Q9H3V9|Q9H3W1|Q9NPL0	Missense_Mutation	SNP	ENST00000375203.3	37	c.464C>A	CCDS4737.1	.	.	.	.	.	.	.	.	.	.	G	0.019	-1.454131	0.01071	.	.	ENSG00000213676	ENST00000375203;ENST00000375201	T;T	0.56275	0.47;1.19	5.01	1.21	0.21127	.	0.433718	0.17612	U	0.168048	T	0.15046	0.0363	L	0.27053	0.805	0.09310	N	1	P;B;B	0.43094	0.799;0.415;0.105	B;B;B	0.38020	0.263;0.179;0.054	T	0.07158	-1.0787	10	0.48119	T	0.1	-1.009	4.3729	0.11256	0.2812:0.1651:0.5537:0.0	.	158;155;158	Q96QL7;Q99941-2;Q99941	.;.;ATF6B_HUMAN	Y	158;155	ENSP00000364349:S158Y;ENSP00000364347:S155Y	ENSP00000364347:S155Y	S	-	2	0	ATF6B	32201877	0.693000	0.27728	0.065000	0.19835	0.703000	0.40648	1.271000	0.33098	0.042000	0.15717	-0.872000	0.02987	TCC		0.507	ATF6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076638.2			42	81	1	0	5.7616e-29	0.014410	7.81932e-29	42	81				
ADAMTS19	171019	broad.mit.edu	37	5	128983512	128983512	+	Missense_Mutation	SNP	G	G	A	rs368867511		TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	c92e4a08-8313-44d3-98b2-07d089ae97ff	g.chr5:128983512G>A	ENST00000274487.4	+	12	2054	c.1909G>A	c.(1909-1911)Gga>Aga	p.G637R	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	637	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G637R(2)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		ACATCTGGCCGGAGAGTGGAG	0.522																																						ENST00000274487.4																			2	Substitution - Missense(2)	p.G637R(2)	prostate(2)	NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91						c.(1909-1911)Gga>Aga		ADAM metallopeptidase with thrombospondin type 1 motif, 19		G	ARG/GLY	0,4406		0,0,2203	143.0	142.0	142.0		1909	4.5	1.0	5		142	1,8599	1.2+/-3.3	0,1,4299	no	missense	ADAMTS19	NM_133638.3	125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	637/1208	128983512	1,13005	2203	4300	6503	SO:0001583	missense	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:128983512G>A	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.1909G>A	5.37:g.128983512G>A	ENSP00000274487:p.Gly637Arg					CTC-575N7.1_ENST00000503616.1_RNA	p.G637R	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	12	2054	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	637			TSP type-1 1.			Missense_Mutation	SNP	ENST00000274487.4	37	c.1909G>A	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.595049	0.86953	0.0	1.16E-4	ENSG00000145808	ENST00000274487	T	0.61742	0.08	4.52	4.52	0.55395	.	0.000000	0.64402	D	0.000002	T	0.80121	0.4565	M	0.89030	3	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.83146	-0.0106	9	.	.	.	.	18.5478	0.91053	0.0:0.0:1.0:0.0	.	637	Q8TE59	ATS19_HUMAN	R	637	ENSP00000274487:G637R	.	G	+	1	0	ADAMTS19	129011411	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.804000	0.69135	2.797000	0.96272	0.650000	0.86243	GGA		0.522	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		55	27	0	0	0	0.014410	0	55	27				
FOXC1	2296	broad.mit.edu	37	6	1611154	1611154	+	Silent	SNP	C	C	T	rs369346224	byFrequency	TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	c92e4a08-8313-44d3-98b2-07d089ae97ff	g.chr6:1611154C>T	ENST00000380874.2	+	1	474	c.474C>T	c.(472-474)tcC>tcT	p.S158S		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	158					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|eye development (GO:0001654)|germ cell migration (GO:0008354)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lacrimal gland development (GO:0032808)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of mitotic cell cycle (GO:0045930)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|paraxial mesoderm formation (GO:0048341)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.S158S(2)		large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		ACCCGGACTCCTACAACATGT	0.627													c|||	5	0.000998403	0.0	0.0	5008	,	,		11409	0.003		0.0	False		,,,				2504	0.002				Pancreas(133;719 1821 3197 26645 35015)	ENST00000380874.2																			2	Substitution - coding silent(2)	p.S158S(2)	prostate(2)	large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						c.(472-474)tcC>tcT		forkhead box C1							50.0	54.0	53.0					6																	1611154		2203	4300	6503	SO:0001819	synonymous_variant	2296				anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	nuclear heterochromatin|transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr6:1611154C>T	AF048693	CCDS4473.1	6p25	2008-04-10			ENSG00000054598	ENSG00000054598		"""Forkhead boxes"""	3800	protein-coding gene	gene with protein product		601090		FKHL7, IRID1		7957066, 9620769	Standard	NM_001453		Approved	FREAC3, ARA, IGDA, IHG1	uc003mtp.3	Q12948	OTTHUMG00000016182	ENST00000380874.2:c.474C>T	6.37:g.1611154C>T							p.S158S	NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)	1	474	+	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)	158					Q86UP7|Q9BYM1|Q9NUE5|Q9UDD0|Q9UP06	Silent	SNP	ENST00000380874.2	37	c.474C>T	CCDS4473.1																																																																																				0.627	FOXC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043450.1			8	38	0	0	0	0.003080	0	8	38				
AC015849.16	0	broad.mit.edu	37	17	34233423	34233423	+	lincRNA	SNP	G	G	A			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	c92e4a08-8313-44d3-98b2-07d089ae97ff	g.chr17:34233423G>A	ENST00000587132.1	-	0	4604																											ATGGTGAAATGTTGGAGGCTG	0.468																																						ENST00000587132.1																			0																																																			0							g.chr17:34233423G>A																													17.37:g.34233423G>A														0	4604	-									RNA	SNP	ENST00000587132.1	37																																																																																						0.468	AC015849.16-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000449325.1			10	9	0	0	0	0.006214	0	10	9				
VARS	7407	broad.mit.edu	37	6	31752254	31752254	+	Missense_Mutation	SNP	C	C	T	rs199533729		TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	c92e4a08-8313-44d3-98b2-07d089ae97ff	g.chr6:31752254C>T	ENST00000375663.3	-	12	1933	c.1493G>A	c.(1492-1494)cGc>cAc	p.R498H	VARS_ENST00000444930.2_Missense_Mutation_p.R203H|VARS_ENST00000482996.1_5'Flank	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	498					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)	p.R498H(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GAGCAGGGTGCGACCTGTCAG	0.597																																						ENST00000375663.3																			2	Substitution - Missense(2)	p.R498H(2)	prostate(1)|lung(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30						c.(1492-1494)cGc>cAc		valyl-tRNA synthetase	L-Valine(DB00161)						73.0	77.0	76.0					6																	31752254		2203	4300	6503	SO:0001583	missense	7407				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	g.chr6:31752254C>T	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	12651	protein-coding gene	gene with protein product	"""valine tRNA ligase 1, cytoplasmic"""	192150	"""valyl-tRNA synthetase 2"""	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.1493G>A	6.37:g.31752254C>T	ENSP00000364815:p.Arg498His					VARS_ENST00000444930.2_Missense_Mutation_p.R203H	p.R498H	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN			12	1933	-			498					B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Missense_Mutation	SNP	ENST00000375663.3	37	c.1493G>A	CCDS34412.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.020064	0.93462	.	.	ENSG00000204394	ENST00000375663;ENST00000444930	T	0.04406	3.63	5.82	5.82	0.92795	Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.85682	D	0.000000	T	0.16896	0.0406	M	0.83692	2.655	0.58432	D	0.999996	D	0.89917	1.0	D	0.83275	0.996	T	0.00824	-1.1551	10	0.35671	T	0.21	-13.372	17.587	0.87984	0.0:1.0:0.0:0.0	.	498	P26640	SYVC_HUMAN	H	498;203	ENSP00000364815:R498H	ENSP00000364815:R498H	R	-	2	0	VARS	31860233	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.403000	0.66338	2.747000	0.94245	0.655000	0.94253	CGC		0.597	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295		25	56	0	0	0	0.006320	0	25	56				
CDH5	1003	broad.mit.edu	37	16	66436911	66436911	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	c92e4a08-8313-44d3-98b2-07d089ae97ff	g.chr16:66436911G>A	ENST00000341529.3	+	12	2342	c.2194G>A	c.(2194-2196)Ggc>Agc	p.G732S	CDH5_ENST00000539168.1_Missense_Mutation_p.G171S	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	732					adherens junction organization (GO:0034332)|blood vessel maturation (GO:0001955)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|negative regulation of cell proliferation (GO:0008285)|regulation of establishment of cell polarity (GO:2000114)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|receptor binding (GO:0005102)	p.G732S(1)		central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)	Lenalidomide(DB00480)	GCACATCTACGGCTACGAGGG	0.642																																						ENST00000341529.3																			1	Substitution - Missense(1)	p.G732S(1)	prostate(1)	central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54						c.(2194-2196)Ggc>Agc		cadherin 5, type 2 (vascular endothelium)							54.0	45.0	48.0					16																	66436911		2201	4300	6501	SO:0001583	missense	1003				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	g.chr16:66436911G>A	X79981	CCDS10804.1	16q22.1	2010-01-26	2008-07-25		ENSG00000179776	ENSG00000179776		"""CD molecules"", ""Cadherins / Major cadherins"""	1764	protein-coding gene	gene with protein product	"""VE-cadherin"""	601120	"""cadherin 5, type 2, VE-cadherin (vascular epithelium)"""			2059658	Standard	NM_001795		Approved	7B4, CD144	uc002eom.4	P33151	OTTHUMG00000137495	ENST00000341529.3:c.2194G>A	16.37:g.66436911G>A	ENSP00000344115:p.Gly732Ser					CDH5_ENST00000539168.1_Missense_Mutation_p.G171S	p.G732S	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.107)	12	2342	+		Ovarian(137;0.0955)	732					Q4VAI5|Q4VAI6	Missense_Mutation	SNP	ENST00000341529.3	37	c.2194G>A	CCDS10804.1	.	.	.	.	.	.	.	.	.	.	G	36	5.805268	0.96967	.	.	ENSG00000179776	ENST00000341529;ENST00000379531;ENST00000539262;ENST00000539168	T;T	0.76839	-1.05;-1.05	5.46	5.46	0.80206	Cadherin, cytoplasmic domain (1);	.	.	.	.	D	0.86264	0.5891	L	0.59912	1.85	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	D	0.86566	0.1844	9	0.56958	D	0.05	.	18.288	0.90120	0.0:0.0:1.0:0.0	.	732	P33151	CADH5_HUMAN	S	732;617;473;171	ENSP00000344115:G732S;ENSP00000461880:G171S	ENSP00000344115:G732S	G	+	1	0	CDH5	64994412	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.799000	0.99117	2.550000	0.86006	0.563000	0.77884	GGC		0.642	CDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268767.1	NM_001795		11	19	0	0	0	0.010729	0	11	19				
ADRBK1	156	broad.mit.edu	37	11	67052768	67052768	+	Silent	SNP	G	G	A			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	c92e4a08-8313-44d3-98b2-07d089ae97ff	g.chr11:67052768G>A	ENST00000308595.5	+	21	2207	c.1917G>A	c.(1915-1917)gaG>gaA	p.E639E	ADRBK1_ENST00000526285.1_Intron	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	639	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)	p.E639E(2)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	GCGACCCTGAGCTGGTGCAGT	0.697																																						ENST00000308595.5																			2	Substitution - coding silent(2)	p.E639E(2)	prostate(2)	cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22						c.(1915-1917)gaG>gaA		adrenergic, beta, receptor kinase 1	Adenosine triphosphate(DB00171)						40.0	37.0	38.0					11																	67052768		2200	4293	6493	SO:0001819	synonymous_variant	156				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr11:67052768G>A	X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"""Pleckstrin homology (PH) domain containing"""	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.1917G>A	11.37:g.67052768G>A						ADRBK1_ENST00000526285.1_Intron	p.E639E	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		21	2207	+			639			PH.		B0ZBE1|Q13837|Q6GTT3	Silent	SNP	ENST00000308595.5	37	c.1917G>A	CCDS8156.1																																																																																				0.697	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393153.1	NM_001619		21	31	0	0	0	0.010504	0	21	31				
RASAL1	8437	broad.mit.edu	37	12	113544983	113544983	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	c92e4a08-8313-44d3-98b2-07d089ae97ff	g.chr12:113544983G>T	ENST00000261729.5	-	16	1891	c.1576C>A	c.(1576-1578)Ccc>Acc	p.P526T	RASAL1_ENST00000548055.1_Missense_Mutation_p.P526T|RASAL1_ENST00000446861.3_Missense_Mutation_p.P526T|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000546530.1_Missense_Mutation_p.P527T			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	526					intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)	p.P526T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						GGGTGCAGGGGGGCCATCCAC	0.622																																						ENST00000546530.1																			2	Substitution - Missense(2)	p.P526T(2)	prostate(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						c.(1579-1581)Ccc>Acc		RAS protein activator like 1 (GAP1 like)							73.0	65.0	68.0					12																	113544983		2203	4300	6503	SO:0001583	missense	8437				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity	g.chr12:113544983G>T	AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"""Pleckstrin homology (PH) domain containing"""	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.1576C>A	12.37:g.113544983G>T	ENSP00000261729:p.Pro526Thr					RASAL1_ENST00000261729.5_Missense_Mutation_p.P526T|RASAL1_ENST00000446861.3_Missense_Mutation_p.P526T|RASAL1_ENST00000548055.1_Missense_Mutation_p.P526T|RASAL1_ENST00000418411.2_5'UTR	p.P527T	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN			16	1864	-			526					B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Missense_Mutation	SNP	ENST00000261729.5	37	c.1579C>A	CCDS9165.1	.	.	.	.	.	.	.	.	.	.	G	18.76	3.693709	0.68386	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	T;T;T;T	0.20463	2.07;2.07;2.07;2.07	4.94	4.94	0.65067	Rho GTPase activation protein (1);Ras GTPase-activating protein (2);	0.000000	0.85682	D	0.000000	T	0.44973	0.1319	M	0.79475	2.455	0.58432	D	0.999997	P;D;D;P;P;D	0.57571	0.942;0.98;0.967;0.772;0.662;0.98	P;P;P;P;B;P	0.59595	0.662;0.86;0.728;0.628;0.424;0.86	T	0.46105	-0.9215	10	0.52906	T	0.07	.	16.9465	0.86231	0.0:0.0:1.0:0.0	.	526;526;539;527;526;526	B4DG06;F8VRH9;Q59H24;F8VQX1;O95294;O95294-2	.;.;.;.;RASL1_HUMAN;.	T	527;526;526;526	ENSP00000450244:P527T;ENSP00000261729:P526T;ENSP00000395920:P526T;ENSP00000448510:P526T	ENSP00000261729:P526T	P	-	1	0	RASAL1	112029366	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.333000	0.96459	2.287000	0.76781	0.561000	0.74099	CCC		0.622	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405522.2	NM_004658		18	30	1	0	2.48551e-13	0.004990	3.29474e-13	18	30				
PIPSL	266971	broad.mit.edu	37	10	95718641	95718641	+	RNA	SNP	C	C	T			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	c92e4a08-8313-44d3-98b2-07d089ae97ff	g.chr10:95718641C>T	ENST00000480546.1	-	0	2656					NR_002319.2		A2A3N6	PIPSL_HUMAN	PIP5K1A and PSMD4-like, pseudogene							cytoplasm (GO:0005737)	phosphatidylinositol phosphate kinase activity (GO:0016307)										CACAGCATTTCGAATGGCTTC	0.542																																						ENST00000480546.1																			0																																																			0							g.chr10:95718641C>T	BC068549		10q23.33	2010-10-27	2010-10-27	2007-07-06	ENSG00000180764	ENSG00000180764		"""Proteasome (prosome, macropain) subunits"""	23733	pseudogene	pseudogene			"""proteasome (prosome, macropain) 26S subunit, non-ATPase, 4, pseudogene 2"", ""phosphatidylinositol-4-phosphate 5-kinase, type I-like 1"", ""PIP5K1A and PSMD4-like"""	PSMD4P2, PIP5K1L1		16344562	Standard	NR_002319		Approved	PIP5K1A-PSMD4, PIP5K1P3	uc009xuj.2	A2A3N6	OTTHUMG00000137480		10.37:g.95718641C>T								NR_002319.2						0	2656	-								Q6NUK8	RNA	SNP	ENST00000480546.1	37																																																																																						0.542	PIPSL-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000351483.1	NR_002319		10	62	0	0	0	0.006214	0	10	62				
RIPK1	8737	broad.mit.edu	37	6	3077128	3077128	+	Missense_Mutation	SNP	A	A	G	rs375750553		TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	c92e4a08-8313-44d3-98b2-07d089ae97ff	g.chr6:3077128A>G	ENST00000259808.4	+	2	369	c.71A>G	c.(70-72)gAc>gGc	p.D24G	RIPK1_ENST00000479389.1_Intron|RIPK1_ENST00000380409.2_Missense_Mutation_p.D24G|RIPK1_ENST00000541791.1_Missense_Mutation_p.D24G			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	24	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|amyloid fibril formation (GO:1990000)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein catabolic process (GO:0044257)|cellular response to growth factor stimulus (GO:0071363)|cellular response to tumor necrosis factor (GO:0071356)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of ATP:ADP antiporter activity (GO:0070926)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to tumor necrosis factor (GO:0034612)|ripoptosome assembly (GO:0097343)|ripoptosome assembly involved in necroptotic process (GO:1901026)|T cell apoptotic process (GO:0070231)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|death domain binding (GO:0070513)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.D24G(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				GCAGAACTGGACAGCGGAGGC	0.478																																						ENST00000259808.4																			2	Substitution - Missense(2)	p.D24G(2)	prostate(2)	breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						c.(70-72)gAc>gGc		receptor (TNFRSF)-interacting serine-threonine kinase 1							85.0	76.0	79.0					6																	3077128		2203	4300	6503	SO:0001583	missense	8737				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity	g.chr6:3077128A>G	U25994	CCDS4482.1	6p25.2	2008-02-05			ENSG00000137275	ENSG00000137275			10019	protein-coding gene	gene with protein product		603453				7538908, 8612133	Standard	XM_005249458		Approved	RIP	uc003mux.3	Q13546	OTTHUMG00000014134	ENST00000259808.4:c.71A>G	6.37:g.3077128A>G	ENSP00000259808:p.Asp24Gly					RIPK1_ENST00000380409.2_Missense_Mutation_p.D24G|RIPK1_ENST00000479389.1_Intron|RIPK1_ENST00000541791.1_Missense_Mutation_p.D24G	p.D24G			Q13546	RIPK1_HUMAN			2	369	+	Ovarian(93;0.0386)	all_hematologic(90;0.0895)	24			Protein kinase.		A0AV89|B2RAG1|B4E3F9|Q13180|Q59H33	Missense_Mutation	SNP	ENST00000259808.4	37	c.71A>G	CCDS4482.1	.	.	.	.	.	.	.	.	.	.	A	14.14	2.445431	0.43429	.	.	ENSG00000137275	ENST00000259808;ENST00000541791;ENST00000380409	T;T;T	0.35421	1.4;1.31;1.4	5.56	4.4	0.53042	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.041422	0.85682	D	0.000000	T	0.09862	0.0242	N	0.00263	-1.745	0.80722	D	1	D;D	0.76494	0.999;0.961	D;P	0.65233	0.933;0.817	T	0.40515	-0.9559	10	0.22109	T	0.4	-28.3983	11.3347	0.49496	0.9279:0.0:0.0721:0.0	.	24;24	Q13546-2;Q13546	.;RIPK1_HUMAN	G	24	ENSP00000259808:D24G;ENSP00000442294:D24G;ENSP00000369773:D24G	ENSP00000259808:D24G	D	+	2	0	RIPK1	3022127	1.000000	0.71417	0.991000	0.47740	0.859000	0.49053	5.845000	0.69437	1.050000	0.40346	0.533000	0.62120	GAC		0.478	RIPK1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039659.2	NM_003804		8	49	0	0	0	0.003080	0	8	49				
PRKCSH	5589	broad.mit.edu	37	19	11552168	11552168	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	c92e4a08-8313-44d3-98b2-07d089ae97ff	g.chr19:11552168A>G	ENST00000589838.1	+	5	464	c.464A>G	c.(463-465)aAg>aGg	p.K155R	PRKCSH_ENST00000412601.1_Missense_Mutation_p.K155R|snoU13_ENST00000459022.1_RNA|PRKCSH_ENST00000252455.2_Missense_Mutation_p.K155R|PRKCSH_ENST00000587327.1_Missense_Mutation_p.K155R|PRKCSH_ENST00000592741.1_Missense_Mutation_p.K155R|PRKCSH_ENST00000591462.1_Missense_Mutation_p.K155R			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	155					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|N-glycan processing (GO:0006491)|negative regulation of neuron projection development (GO:0010977)|nitrogen compound metabolic process (GO:0006807)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein N-linked glycosylation via asparagine (GO:0018279)|renal system development (GO:0072001)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|phosphoprotein binding (GO:0051219)|protein kinase C binding (GO:0005080)|RNA binding (GO:0003723)	p.K155R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						CGGGAGGAGAAGCAGGTAAGG	0.612																																						ENST00000252455.2																			1	Substitution - Missense(1)	p.K155R(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19	GRCh37	CM063069	PRKCSH	M		c.(463-465)aAg>aGg		protein kinase C substrate 80K-H							82.0	89.0	87.0					19																	11552168		2203	4300	6503	SO:0001583	missense	5589				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding	g.chr19:11552168A>G		CCDS32911.1, CCDS45977.1, CCDS74286.1	19p13.2	2014-01-30			ENSG00000130175	ENSG00000130175	2.7.11.1	"""EF-hand domain containing"""	9411	protein-coding gene	gene with protein product		177060	"""polycystic liver disease"""	G19P1, PCLD, PLD1		12529853	Standard	NM_002743		Approved		uc002mrt.3	P14314	OTTHUMG00000182029	ENST00000589838.1:c.464A>G	19.37:g.11552168A>G	ENSP00000465461:p.Lys155Arg					PRKCSH_ENST00000587327.1_Missense_Mutation_p.K155R|PRKCSH_ENST00000589838.1_Missense_Mutation_p.K155R|PRKCSH_ENST00000412601.1_Missense_Mutation_p.K155R|PRKCSH_ENST00000592741.1_Missense_Mutation_p.K155R|PRKCSH_ENST00000591462.1_Missense_Mutation_p.K155R	p.K155R	NM_002743.2	NP_002734.2	P14314	GLU2B_HUMAN			6	800	+			155					A8K318|Q96BU9|Q96D06|Q9P0W9	Missense_Mutation	SNP	ENST00000589838.1	37	c.464A>G	CCDS32911.1	.	.	.	.	.	.	.	.	.	.	A	10.28	1.307210	0.23821	.	.	ENSG00000130175	ENST00000252455;ENST00000412601	T;T	0.71698	-0.59;-0.59	5.13	5.13	0.70059	.	0.051201	0.85682	D	0.000000	T	0.56906	0.2017	N	0.17764	0.52	0.58432	D	0.999998	P;B;B	0.35401	0.499;0.005;0.081	B;B;B	0.39503	0.301;0.014;0.14	T	0.54125	-0.8340	10	0.15066	T	0.55	-59.3671	12.9039	0.58141	1.0:0.0:0.0:0.0	.	155;155;155	E7EQZ9;A8K318;P14314	.;.;GLU2B_HUMAN	R	155	ENSP00000252455:K155R;ENSP00000395616:K155R	ENSP00000252455:K155R	K	+	2	0	PRKCSH	11413168	1.000000	0.71417	1.000000	0.80357	0.266000	0.26442	7.327000	0.79147	1.947000	0.56498	0.459000	0.35465	AAG		0.612	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458817.1			52	113	0	0	0	0.014410	0	52	113				
FAT1	2195	broad.mit.edu	37	4	187540359	187540359	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	c92e4a08-8313-44d3-98b2-07d089ae97ff	g.chr4:187540359A>G	ENST00000441802.2	-	10	7590	c.7381T>C	c.(7381-7383)Tac>Cac	p.Y2461H		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2461	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.Y2461H(2)|p.Y2464H(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTAAGACTGTAAAATGGCTTC	0.443										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			3	Substitution - Missense(3)	p.Y2461H(2)|p.Y2464H(1)	prostate(3)	NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(7381-7383)Tac>Cac		FAT atypical cadherin 1							189.0	190.0	190.0					4																	187540359		1997	4161	6158	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187540359A>G	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7381T>C	4.37:g.187540359A>G	ENSP00000406229:p.Tyr2461His	HNSCC(5;0.00058)					p.Y2461H	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			10	7590	-			2461			Cadherin 22.			Missense_Mutation	SNP	ENST00000441802.2	37	c.7381T>C	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	A	8.027	0.760904	0.15914	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.69561	-0.41	5.24	4.05	0.47172	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.66237	0.2769	M	0.70903	2.155	0.80722	D	1	B	0.20988	0.05	B	0.28139	0.086	T	0.65257	-0.6212	10	0.52906	T	0.07	.	11.5211	0.50551	0.9294:0.0:0.0706:0.0	.	2461	Q14517	FAT1_HUMAN	H	2461;2463	ENSP00000406229:Y2461H	ENSP00000260147:Y2463H	Y	-	1	0	FAT1	187777353	1.000000	0.71417	0.100000	0.21137	0.036000	0.12997	6.062000	0.71155	1.108000	0.41662	0.528000	0.53228	TAC		0.443	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		6	234	0	0	0	0.001168	0	6	234				
CSMD3	114788	broad.mit.edu	37	8	113529332	113529332	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	c92e4a08-8313-44d3-98b2-07d089ae97ff	g.chr8:113529332C>T	ENST00000297405.5	-	28	4931	c.4687G>A	c.(4687-4689)Gag>Aag	p.E1563K	CSMD3_ENST00000455883.2_Missense_Mutation_p.E1459K|CSMD3_ENST00000343508.3_Missense_Mutation_p.E1523K|CSMD3_ENST00000352409.3_Missense_Mutation_p.E1563K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1563	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E1563K(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATTCTTTCCTCTCCTTGAAGT	0.438										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			1	Substitution - Missense(1)	p.E1563K(1)	prostate(1)	breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(4687-4689)Gag>Aag		CUB and Sushi multiple domains 3							131.0	121.0	124.0					8																	113529332		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113529332C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4687G>A	8.37:g.113529332C>T	ENSP00000297405:p.Glu1563Lys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Missense_Mutation_p.E1563K|CSMD3_ENST00000343508.3_Missense_Mutation_p.E1523K|CSMD3_ENST00000455883.2_Missense_Mutation_p.E1459K	p.E1563K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			28	4931	-			1563			Sushi 8.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.4687G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.953388	0.34471	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09	4.88	3.05	0.35203	Complement control module (2);Sushi/SCR/CCP (3);	0.240484	0.33938	N	0.004414	T	0.57489	0.2057	L	0.58583	1.82	0.30635	N	0.75703	B;B;B	0.14012	0.009;0.004;0.0	B;B;B	0.15484	0.012;0.013;0.002	T	0.54820	-0.8236	10	0.23891	T	0.37	.	15.7115	0.77631	0.0:0.8033:0.1967:0.0	.	1459;1563;1523	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	K	1523;1563;903;1459;1563	ENSP00000345799:E1523K;ENSP00000297405:E1563K;ENSP00000341558:E903K;ENSP00000412263:E1459K;ENSP00000343124:E1563K	ENSP00000297405:E1563K	E	-	1	0	CSMD3	113598508	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.617000	0.46385	0.628000	0.30357	0.585000	0.79938	GAG		0.438	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		32	66	0	0	0	0.009535	0	32	66				
ADAMTS5	11096	broad.mit.edu	37	21	28315754	28315754	+	Missense_Mutation	SNP	C	C	A	rs528381319	byFrequency	TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	c92e4a08-8313-44d3-98b2-07d089ae97ff	g.chr21:28315754C>A	ENST00000284987.5	-	3	1471	c.1350G>T	c.(1348-1350)aaG>aaT	p.K450N		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	450	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.K450N(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TGGACCAGGGCTTAGATGCAT	0.448																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	ENST00000284987.5																			2	Substitution - Missense(2)	p.K450N(2)	prostate(2)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						c.(1348-1350)aaG>aaT		ADAM metallopeptidase with thrombospondin type 1 motif, 5							121.0	102.0	108.0					21																	28315754		2203	4300	6503	SO:0001583	missense	11096				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr21:28315754C>A	AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.1350G>T	21.37:g.28315754C>A	ENSP00000284987:p.Lys450Asn						p.K450N	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN			3	1471	-			450			Peptidase M12B.		Q52LV4|Q9UKP2	Missense_Mutation	SNP	ENST00000284987.5	37	c.1350G>T	CCDS13579.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.534293	0.27475	.	.	ENSG00000154736	ENST00000284987	T	0.03524	3.9	5.4	-4.14	0.03892	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.046469	0.85682	D	0.000000	T	0.03827	0.0108	N	0.11023	0.085	0.45837	D	0.998702	D	0.63880	0.993	P	0.55667	0.781	T	0.06917	-1.0800	10	0.25106	T	0.35	.	15.1452	0.72643	0.0:0.2824:0.0:0.7176	.	450	Q9UNA0	ATS5_HUMAN	N	450	ENSP00000284987:K450N	ENSP00000284987:K450N	K	-	3	2	ADAMTS5	27237625	0.035000	0.19736	0.933000	0.37362	0.669000	0.39330	-0.794000	0.04584	-0.678000	0.05224	-0.145000	0.13849	AAG		0.448	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171648.1			4	34	1	0	0.00024832	0.009096	0.000301154	4	34				
ARHGEF15	22899	broad.mit.edu	37	17	8221715	8221715	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	c92e4a08-8313-44d3-98b2-07d089ae97ff	g.chr17:8221715G>A	ENST00000361926.3	+	10	1825	c.1715G>A	c.(1714-1716)cGc>cAc	p.R572H	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.R572H|AC135178.7_ENST00000458568.1_RNA	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	572	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R572H(1)		breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						AATATCCTGCGCCAGACAGAA	0.627																																						ENST00000361926.3																			1	Substitution - Missense(1)	p.R572H(1)	prostate(1)	breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(1714-1716)cGc>cAc		Rho guanine nucleotide exchange factor (GEF) 15							77.0	84.0	82.0					17																	8221715		2203	4300	6503	SO:0001583	missense	22899				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr17:8221715G>A	AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.1715G>A	17.37:g.8221715G>A	ENSP00000355026:p.Arg572His					AC135178.7_ENST00000458568.1_RNA|ARHGEF15_ENST00000421050.1_Missense_Mutation_p.R572H	p.R572H	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN			10	1825	+			572			DH.		A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	ENST00000361926.3	37	c.1715G>A	CCDS11139.1	.	.	.	.	.	.	.	.	.	.	g	9.504	1.103943	0.20632	.	.	ENSG00000198844	ENST00000361926;ENST00000455564;ENST00000421050	T;T	0.30981	1.51;1.51	5.29	-0.146	0.13432	Dbl homology (DH) domain (5);	0.903044	0.09761	N	0.759275	T	0.14527	0.0351	N	0.05124	-0.11	0.09310	N	1	B;B	0.22346	0.068;0.068	B;B	0.12837	0.008;0.008	T	0.24297	-1.0164	10	0.72032	D	0.01	-0.0636	7.7365	0.28817	0.501:0.0:0.499:0.0	.	572;572	D3DTR7;O94989	.;ARHGF_HUMAN	H	572;362;572	ENSP00000355026:R572H;ENSP00000412505:R572H	ENSP00000355026:R572H	R	+	2	0	ARHGEF15	8162440	0.838000	0.29461	0.319000	0.25293	0.739000	0.42172	0.317000	0.19487	-0.143000	0.11334	-0.300000	0.09419	CGC		0.627	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226993.2	NM_173728		47	84	0	0	0	0.014410	0	47	84				
SEPHS1	22929	broad.mit.edu	37	10	13375855	13375855	+	Silent	SNP	T	T	C			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	c92e4a08-8313-44d3-98b2-07d089ae97ff	g.chr10:13375855T>C	ENST00000327347.5	-	5	897	c.522A>G	c.(520-522)ggA>ggG	p.G174G	SEPHS1_ENST00000545675.1_Silent_p.G174G|SEPHS1_ENST00000378614.4_Silent_p.G174G|SEPHS1_ENST00000537130.1_Silent_p.G107G	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN	selenophosphate synthetase 1	174					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|selenide, water dikinase activity (GO:0004756)	p.G174G(2)		cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						TGGTAGCCACTCCTCCCAGGA	0.438																																						ENST00000327347.5																			2	Substitution - coding silent(2)	p.G174G(2)	prostate(2)	cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						c.(520-522)ggA>ggG		selenophosphate synthetase 1							89.0	85.0	86.0					10																	13375855		2203	4300	6503	SO:0001819	synonymous_variant	22929				protein modification process		ATP binding|GTP binding|selenide, water dikinase activity	g.chr10:13375855T>C	BC000941	CCDS7098.1, CCDS55702.1, CCDS55703.1	10p14	2006-10-06			ENSG00000086475	ENSG00000086475			19685	protein-coding gene	gene with protein product		600902				7665581	Standard	NM_012247		Approved	SPS, SPS1	uc001imk.3	P49903	OTTHUMG00000017696	ENST00000327347.5:c.522A>G	10.37:g.13375855T>C						SEPHS1_ENST00000537130.1_Silent_p.G107G|SEPHS1_ENST00000378614.4_Silent_p.G174G|SEPHS1_ENST00000545675.1_Silent_p.G174G	p.G174G	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN			5	897	-			174					B4DWK0|D3DRS9|D6PSQ9|Q5T5U8|Q5T5U9|Q9BVT4	Silent	SNP	ENST00000327347.5	37	c.522A>G	CCDS7098.1																																																																																				0.438	SEPHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046856.1	NM_012247		16	28	0	0	0	0.004990	0	16	28				
FRG1B	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	c92e4a08-8313-44d3-98b2-07d089ae97ff	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	80								p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363																																						ENST00000278882.3																			8	Substitution - Missense(8)	p.A80P(8)	prostate(4)|kidney(4)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(238-240)Gct>Cct																																						SO:0001583	missense	0							g.chr20:29628236G>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.238G>C	20.37:g.29628236G>C	ENSP00000278882:p.Ala80Pro					FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P	p.A80P							6	618	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.238G>C		.	.	.	.	.	.	.	.	.	.	g	15.73	2.920277	0.52653	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.57595	0.39	2.08	2.08	0.27032	Actin cross-linking (1);	0.052409	0.85682	D	0.000000	T	0.68952	0.3057	.	.	.	0.80722	D	1	D;D	0.64830	0.994;0.988	D;D	0.85130	0.997;0.993	T	0.72766	-0.4194	9	0.87932	D	0	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	85;80	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	P	80;85;80	ENSP00000408863:A85P	ENSP00000278882:A80P	A	+	1	0	FRG1B	28241897	1.000000	0.71417	1.000000	0.80357	0.334000	0.28698	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		3	84	0	0	0	0.009096	0	3	84				
FRG1B	284802	broad.mit.edu	37	20	29628251	29628251	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	c92e4a08-8313-44d3-98b2-07d089ae97ff	g.chr20:29628251A>G	ENST00000278882.3	+	6	633	c.253A>G	c.(253-255)Aat>Gat	p.N85D	FRG1B_ENST00000439954.2_Missense_Mutation_p.N90D|FRG1B_ENST00000358464.4_Missense_Mutation_p.N85D			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	85								p.N85D(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTTGGCCTCAAATAGCTGCTT	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.N85D(2)	kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(253-255)Aat>Gat																																						SO:0001583	missense	0							g.chr20:29628251A>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.253A>G	20.37:g.29628251A>G	ENSP00000278882:p.Asn85Asp					FRG1B_ENST00000358464.4_Missense_Mutation_p.N85D|FRG1B_ENST00000439954.2_Missense_Mutation_p.N90D	p.N85D							6	633	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.253A>G		.	.	.	.	.	.	.	.	.	.	a	15.78	2.933773	0.52866	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50277	0.75	2.08	2.08	0.27032	Actin cross-linking (1);	0.000000	0.85682	D	0.000000	T	0.46619	0.1402	.	.	.	0.45390	D	0.998378	B;B	0.26809	0.086;0.16	B;B	0.40329	0.326;0.253	T	0.51553	-0.8691	9	0.66056	D	0.02	.	8.0833	0.30758	1.0:0.0:0.0:0.0	.	90;85	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	D	85;90;85	ENSP00000408863:N90D	ENSP00000278882:N85D	N	+	1	0	FRG1B	28241912	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	8.047000	0.89440	1.208000	0.43306	0.347000	0.21830	AAT		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	77	0	0	0	0.001168	0	5	77				
OR4C3	256144	broad.mit.edu	37	11	48347071	48347071	+	Missense_Mutation	SNP	C	C	A	rs138317832		TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	c92e4a08-8313-44d3-98b2-07d089ae97ff	g.chr11:48347071C>A	ENST00000319856.4	+	1	600	c.579C>A	c.(577-579)ttC>ttA	p.F193L		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F193L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						GGTTGCCCTTCTGTGGGCCCA	0.532																																						ENST00000319856.4																			1	Substitution - Missense(1)	p.F193L(1)	prostate(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						c.(577-579)ttC>ttA		olfactory receptor, family 4, subfamily C, member 3		C	LEU/PHE	1,4401	2.1+/-5.4	0,1,2200	177.0	158.0	165.0		579	4.9	1.0	11	dbSNP_134	165	0,8596		0,0,4298	no	missense	OR4C3	NM_001004702.1	22	0,1,6498	AA,AC,CC		0.0,0.0227,0.0077	probably-damaging	193/330	48347071	1,12997	2201	4298	6499	SO:0001583	missense	256144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48347071C>A	AB065567	CCDS31489.1	11p11.2	2012-08-09				ENSG00000176547		"""GPCR / Class A : Olfactory receptors"""	14697	protein-coding gene	gene with protein product							Standard	NM_001004702		Approved		uc010rhv.2	Q8NH37	OTTHUMG00000166579	ENST00000319856.4:c.579C>A	11.37:g.48347071C>A	ENSP00000321419:p.Phe193Leu						p.F193L	NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN			1	600	+			166					B2RNF2|Q6IFB3	Missense_Mutation	SNP	ENST00000319856.4	37	c.579C>A	CCDS31489.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.053995	0.75960	2.27E-4	0.0	ENSG00000176547	ENST00000319856;ENST00000395239	T	0.00039	8.85	5.78	4.88	0.63580	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000041	T	0.00468	0.0015	M	0.85859	2.78	0.36084	D	0.842984	D	0.89917	1.0	D	0.97110	1.0	T	0.66670	-0.5865	10	0.87932	D	0	.	9.0108	0.36139	0.0:0.8341:0.0:0.1659	.	166	Q8NH37	OR4C3_HUMAN	L	193;56	ENSP00000321419:F193L	ENSP00000321419:F193L	F	+	3	2	OR4C3	48303647	0.976000	0.34144	1.000000	0.80357	0.903000	0.53119	0.645000	0.24782	1.495000	0.48549	0.478000	0.44815	TTC		0.532	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702		23	63	1	0	1.96895e-08	0.002780	2.55068e-08	23	63				
OR4D9	390199	broad.mit.edu	37	11	59282589	59282589	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	c92e4a08-8313-44d3-98b2-07d089ae97ff	g.chr11:59282589T>G	ENST00000329328.3	+	1	204	c.204T>G	c.(202-204)atT>atG	p.I68M		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I68M(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						ACCTGTCTATTCTTGACATCT	0.443																																						ENST00000329328.3																			1	Substitution - Missense(1)	p.I68M(1)	prostate(1)	endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						c.(202-204)atT>atG		olfactory receptor, family 4, subfamily D, member 9							198.0	189.0	192.0					11																	59282589		2201	4295	6496	SO:0001583	missense	390199				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59282589T>G	AB065861	CCDS31564.1	11q12.1	2012-08-09	2003-12-15		ENSG00000172742	ENSG00000172742		"""GPCR / Class A : Olfactory receptors"""	15178	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily D, member 9 pseudogene"""				Standard	NM_001004711		Approved		uc010rkv.2	Q8NGE8	OTTHUMG00000167343	ENST00000329328.3:c.204T>G	11.37:g.59282589T>G	ENSP00000328563:p.Ile68Met						p.I68M	NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN			1	204	+			68					Q6IFF3	Missense_Mutation	SNP	ENST00000329328.3	37	c.204T>G	CCDS31564.1	.	.	.	.	.	.	.	.	.	.	T	2.325	-0.354724	0.05138	.	.	ENSG00000172742	ENST00000329328	T	0.00551	6.65	3.76	-7.52	0.01341	GPCR, rhodopsin-like superfamily (1);	1.058250	0.07568	U	0.918069	T	0.00637	0.0021	L	0.42686	1.345	0.09310	N	1	B	0.25609	0.13	B	0.39419	0.299	T	0.36359	-0.9751	10	0.87932	D	0	.	7.6406	0.28292	0.1181:0.6117:0.1192:0.151	.	68	Q8NGE8	OR4D9_HUMAN	M	68	ENSP00000328563:I68M	ENSP00000328563:I68M	I	+	3	3	OR4D9	59039165	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.920000	0.00334	-2.078000	0.00872	-1.421000	0.01109	ATT		0.443	OR4D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394237.1	NM_001004711		79	123	0	0	0	0.014410	0	79	123				
SNAP25	6616	broad.mit.edu	37	20	10273562	10273562	+	Intron	SNP	C	C	G			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	c92e4a08-8313-44d3-98b2-07d089ae97ff	g.chr20:10273562C>G	ENST00000254976.2	+	5	374				SNAP25_ENST00000304886.2_Missense_Mutation_p.H66D|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000453544.1_RNA	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa						energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long-term synaptic potentiation (GO:0060291)|neurotransmitter secretion (GO:0007269)|neurotransmitter uptake (GO:0001504)|regulation of establishment of protein localization (GO:0070201)|regulation of insulin secretion (GO:0050796)|regulation of neuron projection development (GO:0010975)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|SNARE complex (GO:0031201)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|trans-Golgi network (GO:0005802)	calcium-dependent protein binding (GO:0048306)	p.H66D(1)		endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	AGGCATGAACCATATCAACCA	0.413																																						ENST00000304886.2																			1	Substitution - Missense(1)	p.H66D(1)	prostate(1)	endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18						c.(196-198)Cat>Gat		synaptosomal-associated protein, 25kDa	Botulinum Toxin Type A(DB00083)						115.0	110.0	111.0					20																	10273562		2203	4300	6503	SO:0001627	intron_variant	6616				energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome		g.chr20:10273562C>G		CCDS13109.1, CCDS13110.1	20p12-p11.2	2008-08-01	2002-08-29		ENSG00000132639	ENSG00000132639			11132	protein-coding gene	gene with protein product	"""resistance to inhibitors of cholinesterase 4 homolog"""	600322	"""synaptosomal-associated protein, 25kD"""	SNAP		8661740, 10692432	Standard	NM_003081		Approved	SNAP-25, RIC-4, RIC4, SEC9, bA416N4.2, dJ1068F16.2	uc002wnr.2	P60880	OTTHUMG00000031863	ENST00000254976.2:c.164-247C>G	20.37:g.10273562C>G						SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000453544.1_RNA|SNAP25_ENST00000254976.2_Intron	p.H66D	NM_003081.3	NP_003072.2	P60880	SNP25_HUMAN			5	404	+			66			Interaction with CENPF (By similarity).|t-SNARE coiled-coil homology 1.		B2RAU4|D3DW16|D3DW17|P13795|P36974|P70557|P70558|Q53EM2|Q5U0B5|Q8IXK3|Q96FM2|Q9BR45	Missense_Mutation	SNP	ENST00000254976.2	37	c.196C>G	CCDS13110.1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.508591	0.44660	.	.	ENSG00000132639	ENST00000304886	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	T	0.49321	0.1550	.	.	.	0.49687	D	0.99981	B	0.18863	0.031	B	0.20384	0.029	T	0.46162	-0.9211	7	0.08599	T	0.76	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	66	P60880-2	.	D	66	.	ENSP00000307341:H66D	H	+	1	0	SNAP25	10221562	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.975000	0.70475	2.937000	0.99478	0.650000	0.86243	CAT		0.413	SNAP25-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077976.3	NM_130811		12	84	0	0	0	0.013537	0	12	84				
HCN4	10021	broad.mit.edu	37	15	73615456	73615456	+	Missense_Mutation	SNP	G	G	T	rs199798661		TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	c92e4a08-8313-44d3-98b2-07d089ae97ff	g.chr15:73615456G>T	ENST00000261917.3	-	8	3971	c.2978C>A	c.(2977-2979)aCg>aAg	p.T993K		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	993	Pro-rich.				blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.T993K(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TGTCTCTGGCGTGCTCAGTGG	0.697																																						ENST00000261917.3																			1	Substitution - Missense(1)	p.T993K(1)	prostate(1)	NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55						c.(2977-2979)aCg>aAg		hyperpolarization activated cyclic nucleotide-gated potassium channel 4							6.0	8.0	7.0					15																	73615456		1960	4040	6000	SO:0001583	missense	10021				blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity	g.chr15:73615456G>T	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.2978C>A	15.37:g.73615456G>T	ENSP00000261917:p.Thr993Lys						p.T993K	NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN		COAD - Colon adenocarcinoma(1;0.142)	8	3971	-			993			Pro-rich.		Q9UMQ7	Missense_Mutation	SNP	ENST00000261917.3	37	c.2978C>A	CCDS10248.1	.	.	.	.	.	.	.	.	.	.	G	1.620	-0.521866	0.04171	.	.	ENSG00000138622	ENST00000261917	D	0.97404	-4.37	2.76	2.76	0.32466	.	.	.	.	.	D	0.93035	0.7783	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	D	0.84374	0.0545	9	0.22109	T	0.4	.	11.7502	0.51843	0.0:0.0:1.0:0.0	.	993	Q9Y3Q4	HCN4_HUMAN	K	993	ENSP00000261917:T993K	ENSP00000261917:T993K	T	-	2	0	HCN4	71402509	0.012000	0.17670	0.722000	0.30670	0.070000	0.16714	1.550000	0.36223	1.369000	0.46134	0.448000	0.29417	ACG		0.697	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	NM_005477		7	13	1	0	0.000157383	0.003080	0.000199352	7	13				
AGBL1	123624	broad.mit.edu	37	15	86838596	86838596	+	Silent	SNP	G	G	A			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	c92e4a08-8313-44d3-98b2-07d089ae97ff	g.chr15:86838596G>A	ENST00000441037.2	+	16	2288	c.2193G>A	c.(2191-2193)acG>acA	p.T731T	AGBL1-AS1_ENST00000564487.1_RNA|AGBL1_ENST00000389298.3_Silent_p.T462T|AGBL1-AS1_ENST00000566878.1_RNA|AGBL1_ENST00000421325.2_Silent_p.T731T	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	731					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.T731T(1)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TGACCATCACGGCCATGCCTG	0.498																																						ENST00000441037.2																			1	Substitution - coding silent(1)	p.T731T(1)	prostate(1)	NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						c.(2191-2193)acG>acA		ATP/GTP binding protein-like 1							110.0	110.0	110.0					15																	86838596		1998	4176	6174	SO:0001819	synonymous_variant	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:86838596G>A	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.2193G>A	15.37:g.86838596G>A						AGBL1_ENST00000389298.3_Silent_p.T462T|AGBL1_ENST00000421325.2_Silent_p.T731T	p.T731T	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN			16	2288	+			731					A1A4X5|A6NJH6|C9JHL5	Silent	SNP	ENST00000441037.2	37	c.2193G>A	CCDS58398.1																																																																																				0.498	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		37	68	0	0	0	0.007835	0	37	68				
DPT	1805	broad.mit.edu	37	1	168698284	168698284	+	Silent	SNP	C	C	T			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	c92e4a08-8313-44d3-98b2-07d089ae97ff	g.chr1:168698284C>T	ENST00000367817.3	-	1	218	c.129G>A	c.(127-129)cgG>cgA	p.R43R		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	43	2 X 53-55 AA tandem repeats.				cell adhesion (GO:0007155)|collagen fibril organization (GO:0030199)|negative regulation of cell proliferation (GO:0008285)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.R43R(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					TGAAGCCTTGCCGGTTCAAAT	0.542																																						ENST00000367817.3																			1	Substitution - coding silent(1)	p.R43R(1)	prostate(1)	kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12						c.(127-129)cgG>cgA		dermatopontin							115.0	95.0	102.0					1																	168698284		2203	4300	6503	SO:0001819	synonymous_variant	1805				cell adhesion	extracellular space|proteinaceous extracellular matrix		g.chr1:168698284C>T	BC033736	CCDS1275.1	1q12-q23	2008-02-05			ENSG00000143196	ENSG00000143196			3011	protein-coding gene	gene with protein product		125597				8104875	Standard	NM_001937		Approved		uc001gfp.3	Q07507	OTTHUMG00000034554	ENST00000367817.3:c.129G>A	1.37:g.168698284C>T							p.R43R	NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN			1	218	-	all_hematologic(923;0.208)		43			2 X 53-55 AA tandem repeats.		A8K981|Q8N4R2|Q9UIX8	Silent	SNP	ENST00000367817.3	37	c.129G>A	CCDS1275.1																																																																																				0.542	DPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083618.1	NM_001937		4	64	0	0	0	0.009096	0	4	64				
HPS1	3257	broad.mit.edu	37	10	100177455	100177455	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	c92e4a08-8313-44d3-98b2-07d089ae97ff	g.chr10:100177455G>A	ENST00000325103.6	-	20	2202	c.1969C>T	c.(1969-1971)Cgc>Tgc	p.R657C	HPS1_ENST00000361490.4_Missense_Mutation_p.R657C|HPS1_ENST00000467246.1_5'UTR|PYROXD2_ENST00000370575.4_5'Flank	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	657					blood coagulation (GO:0007596)|eye pigmentation (GO:0048069)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of natural killer cell activation (GO:0032816)|retina development in camera-type eye (GO:0060041)|secretion of lysosomal enzymes (GO:0033299)|visual perception (GO:0007601)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	protein dimerization activity (GO:0046983)	p.R657C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		TCGGTTGGGCGGTTCTTGCTG	0.662									Hermansky-Pudlak syndrome																													ENST00000325103.6																			1	Substitution - Missense(1)	p.R657C(1)	prostate(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						c.(1969-1971)Cgc>Tgc		Hermansky-Pudlak syndrome 1							69.0	63.0	65.0					10																	100177455		2203	4300	6503	SO:0001583	missense	3257	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity	g.chr10:100177455G>A	U79136	CCDS7475.1, CCDS7476.1	10q23.1-q23.3	2014-06-18		2002-05-01	ENSG00000107521	ENSG00000107521			5163	protein-coding gene	gene with protein product		604982	"""Hermansky-Pudlak syndrome"""	HPS		8541858, 7573033	Standard	NM_182639		Approved		uc021pwv.1	Q92902	OTTHUMG00000018876	ENST00000325103.6:c.1969C>T	10.37:g.100177455G>A	ENSP00000326649:p.Arg657Cys					HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Missense_Mutation_p.R657C	p.R657C	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)	20	2202	-		Colorectal(252;0.234)	657					A8MRT2|O15402|O15502|Q5TAA3|Q8WXE5	Missense_Mutation	SNP	ENST00000325103.6	37	c.1969C>T	CCDS7475.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.646100	0.67358	.	.	ENSG00000107521	ENST00000325103;ENST00000361490;ENST00000407891	T;T	0.33438	1.41;1.41	5.5	4.59	0.56863	.	0.252703	0.46442	D	0.000298	T	0.36880	0.0983	L	0.44542	1.39	0.80722	D	1	D;D	0.71674	0.998;0.997	P;P	0.52856	0.599;0.711	T	0.03524	-1.1028	10	0.38643	T	0.18	.	13.7676	0.63004	0.0735:0.0:0.9265:0.0	.	624;658	Q92902-2;D3DR62	.;.	C	657;657;624	ENSP00000326649:R657C;ENSP00000355310:R657C	ENSP00000326649:R657C	R	-	1	0	HPS1	100167445	1.000000	0.71417	0.998000	0.56505	0.533000	0.34776	7.607000	0.82883	2.593000	0.87608	0.456000	0.33151	CGC		0.662	HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049776.1	NM_000195, NM_182637, NM_182638, NM_182639		21	31	0	0	0	0.003330	0	21	31				
LIMK1	3984	broad.mit.edu	37	7	73498339	73498339	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	c92e4a08-8313-44d3-98b2-07d089ae97ff	g.chr7:73498339T>G	ENST00000336180.2	+	1	70	c.19T>G	c.(19-21)Tgt>Ggt	p.C7G	LIMK1_ENST00000418310.1_Intron	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1	7					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|nervous system development (GO:0007399)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of axon extension (GO:0045773)|positive regulation of stress fiber assembly (GO:0051496)|protein phosphorylation (GO:0006468)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)	ATP binding (GO:0005524)|heat shock protein binding (GO:0031072)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)			Dabrafenib(DB08912)	GACGCTACTTTGTTGCACCTG	0.776																																						ENST00000336180.2																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						c.(19-21)Tgt>Ggt		LIM domain kinase 1							11.0	11.0	11.0					7																	73498339		2143	4193	6336	SO:0001583	missense	3984				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding	g.chr7:73498339T>G	D26309	CCDS5563.1, CCDS56491.1	7q11.23	2005-01-21			ENSG00000106683	ENSG00000106683			6613	protein-coding gene	gene with protein product		601329				8673124, 8812460	Standard	NM_002314		Approved	LIMK	uc003uaa.2	P53667	OTTHUMG00000023448	ENST00000336180.2:c.19T>G	7.37:g.73498339T>G	ENSP00000336740:p.Cys7Gly					LIMK1_ENST00000418310.1_Intron	p.C7G	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN			1	70	+		Lung NSC(55;0.137)	7					B7Z6I8|D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	Missense_Mutation	SNP	ENST00000336180.2	37	c.19T>G	CCDS5563.1	.	.	.	.	.	.	.	.	.	.	t	10.08	1.252214	0.22880	.	.	ENSG00000106683	ENST00000419043;ENST00000336180	T	0.74632	-0.86	2.77	2.77	0.32553	.	0.000000	0.85682	U	0.000000	T	0.67515	0.2901	L	0.60455	1.87	0.80722	D	1	B	0.18013	0.025	B	0.21708	0.036	T	0.66724	-0.5851	10	0.87932	D	0	.	7.4141	0.27034	0.0:0.0:0.0:1.0	.	7	P53667	LIMK1_HUMAN	G	7	ENSP00000336740:C7G	ENSP00000336740:C7G	C	+	1	0	LIMK1	73136275	1.000000	0.71417	1.000000	0.80357	0.193000	0.23685	4.471000	0.60182	1.043000	0.40175	0.156000	0.16432	TGT		0.776	LIMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252335.2	NM_002314		4	5	0	0	0	0.009096	0	4	5				
MALAT1	378938	broad.mit.edu	37	11	65269936	65269936	+	lincRNA	SNP	A	A	T			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	c92e4a08-8313-44d3-98b2-07d089ae97ff	g.chr11:65269936A>T	ENST00000534336.1	+	0	4704					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		TCCATTGTTTAACTGCAAAAC	0.264																																						ENST00000534336.1																			0																				24.0	26.0	25.0					11																	65269936		874	1987	2861			0							g.chr11:65269936A>T	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65269936A>T								NR_002819.2						0	4704	+									RNA	SNP	ENST00000534336.1	37																																																																																						0.264	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		10	23	0	0	0	0.006214	0	10	23				
TBX19	9095	broad.mit.edu	37	1	168278015	168278015	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	c92e4a08-8313-44d3-98b2-07d089ae97ff	g.chr1:168278015G>C	ENST00000367821.3	+	7	1003	c.952G>C	c.(952-954)Gtt>Ctt	p.V318L	TBX19_ENST00000465440.1_3'UTR	NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	318					anatomical structure morphogenesis (GO:0009653)|cell fate commitment (GO:0045165)|pituitary gland development (GO:0021983)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V318L(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					TAATCTGCAAGTTTTCTCGGG	0.463																																						ENST00000367821.3																			1	Substitution - Missense(1)	p.V318L(1)	prostate(1)	NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34						c.(952-954)Gtt>Ctt		T-box 19							144.0	132.0	136.0					1																	168278015		2203	4300	6503	SO:0001583	missense	9095				anatomical structure morphogenesis	nucleus	DNA binding	g.chr1:168278015G>C	AJ010277	CCDS1272.1	1q23-q24	2008-02-05			ENSG00000143178	ENSG00000143178		"""T-boxes"""	11596	protein-coding gene	gene with protein product	"""TBS 19"""	604614				9888994	Standard	NM_005149		Approved	dj747L4.1, TPIT	uc001gfl.3	O60806	OTTHUMG00000034648	ENST00000367821.3:c.952G>C	1.37:g.168278015G>C	ENSP00000356795:p.Val318Leu					TBX19_ENST00000465440.1_3'UTR	p.V318L	NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN			7	1003	+	all_hematologic(923;0.215)		318					Q52M53	Missense_Mutation	SNP	ENST00000367821.3	37	c.952G>C	CCDS1272.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.04|13.04	2.119207|2.119207	0.37436|0.37436	.|.	.|.	ENSG00000143178|ENSG00000143178	ENST00000431969;ENST00000441464|ENST00000367821;ENST00000367828	.|D	.|0.94537	.|-3.45	5.46|5.46	4.55|4.55	0.56014|0.56014	.|.	.|0.169040	.|0.37219	.|N	.|0.002199	D|D	0.94311|0.94311	0.8172|0.8172	L|L	0.54323|0.54323	1.7|1.7	.|0.09310	.|N	.|0.999998	.|D;D	.|0.58970	.|0.984;0.984	.|D;D	.|0.70016	.|0.967;0.956	D|D	0.92808|0.92808	0.6262|0.6262	4|9	.|0.21540	.|T	.|0.41	.|.	14.3979|14.3979	0.67022|0.67022	0.0:0.1476:0.8524:0.0|0.0:0.1476:0.8524:0.0	.|.	.|318;186	.|O60806;B3KRD9	.|TBX19_HUMAN;.	T|L	187;150|318;195	.|ENSP00000356795:V318L	.|ENSP00000356795:V318L	S|V	+|+	2|1	0|0	TBX19|TBX19	166544639|166544639	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.709000|3.709000	0.54853|0.54853	1.290000|1.290000	0.44636|0.44636	-0.150000|-0.150000	0.13652|0.13652	AGT|GTT		0.463	TBX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083825.1	NM_005149		3	92	0	0	0	0.004672	0	3	92				
CHORDC2P	317775	broad.mit.edu	37	14	90203668	90203668	+	RNA	DEL	C	C	-	rs12897726|rs144915275		TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr14:90203668delC	ENST00000555070.1	-	0	170																											CTCTTTCTTTCtttttttttt	0.368																																						ENST00000555070.1																			0																																																			0							g.chr14:90203668delC																													14.37:g.90203668delC														0	170	-									RNA	DEL	ENST00000555070.1	37																																																																																						0.368	RP11-33N16.3-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000411023.1			3	6						3	6	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102292874	102292876	+	RNA	DEL	CTC	CTC	-			TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	23c4ade3-dc70-4bd0-95f0-c7be9eec4d99	g.chr15:102292874_102292876delCTC	ENST00000561463.1	+	0	920_922									DNM1 pseudogene 47																		AGTTCATCTTCTCAGAGCTGCTG	0.581																																						ENST00000561463.1																			0																																																			0							g.chr15:102292874_102292876delCTC	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292874_102292876delCTC														0	920_922	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.581	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		2	4						2	4	---	---	---	---
AC027612.3	0	broad.mit.edu	37	2	91899626	91899626	+	RNA	DEL	A	A	-	rs566726868	byFrequency	TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	c92e4a08-8313-44d3-98b2-07d089ae97ff	g.chr2:91899626delA	ENST00000436174.1	-	0	168																											CCAGAGGCTCAAAAAAAAAAA	0.289													|||unknown(HR)	1834	0.366214	0.3752	0.3977	5008	,	,		31479	0.3988		0.335	False		,,,				2504	0.3303					ENST00000436174.1																			0																																																			0							g.chr2:91899626delA																													2.37:g.91899626delA														0	168	-									RNA	DEL	ENST00000436174.1	37																																																																																						0.289	AC027612.3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338339.1			4	5						4	5	---	---	---	---
PRSS3P2	154754	broad.mit.edu	37	7	142481923	142481925	+	RNA	DEL	CAA	CAA	-	rs201697815		TCGA-G9-6332-01A-11D-1786-08	TCGA-G9-6332-11A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	50f0a6a4-1453-4dc2-b963-53a6075ce4cd	c92e4a08-8313-44d3-98b2-07d089ae97ff	g.chr7:142481923_142481925delCAA	ENST00000603901.1	+	0	591					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										GTGATTAGACCAACCCTTCCCAT	0.537																																						ENST00000603901.1																			0																																																			0							g.chr7:142481923_142481925delCAA			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142481923_142481925delCAA								NR_001296.3						0	591	+									RNA	DEL	ENST00000603901.1	37																																																																																						0.537	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		7	80						7	80	---	---	---	---
