#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
MYH7	4625	broad.mit.edu	37	14	23887594	23887594	+	Missense_Mutation	SNP	C	C	T	rs397516198		TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr14:23887594C>T	ENST00000355349.3	-	30	4156	c.3994G>A	c.(3994-3996)Gca>Aca	p.A1332T	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1332					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GACTGCAGTGCGTGGGCCAGG	0.657																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(3994-3996)Gca>Aca		myosin, heavy chain 7, cardiac muscle, beta							30.0	30.0	30.0					14																	23887594		2202	4300	6502	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23887594C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.3994G>A	14.37:g.23887594C>T	ENSP00000347507:p.Ala1332Thr						p.A1332T	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	30	4156	-	all_cancers(95;2.54e-05)		1332					A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.3994G>A	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	35	5.533758	0.96460	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	T	0.78003	-1.14	4.97	4.97	0.65823	Myosin tail (1);	.	.	.	.	D	0.86205	0.5877	M	0.80616	2.505	0.80722	D	1	P	0.43662	0.814	P	0.52909	0.713	D	0.87820	0.2637	9	0.66056	D	0.02	.	18.4295	0.90620	0.0:1.0:0.0:0.0	.	1332	P12883	MYH7_HUMAN	T	1332;1337	ENSP00000347507:A1332T	ENSP00000347507:A1332T	A	-	1	0	MYH7	22957434	1.000000	0.71417	0.996000	0.52242	0.975000	0.68041	4.590000	0.61013	2.600000	0.87896	0.655000	0.94253	GCA		0.657	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		5	38	0	0	0	1	0	5	38				
CDK12	51755	broad.mit.edu	37	17	37627877	37627877	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr17:37627877C>T	ENST00000447079.4	+	2	1825	c.1792C>T	c.(1792-1794)Cag>Tag	p.Q598*	CDK12_ENST00000430627.2_Nonsense_Mutation_p.Q598*	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	598					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TGTGTCCTCTCAGGCAAATTC	0.488			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"""Mis, N, F"""	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(1792-1794)Cag>Tag		cyclin-dependent kinase 12							141.0	139.0	139.0					17																	37627877		2203	4300	6503	SO:0001587	stop_gained	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37627877C>T	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.1792C>T	17.37:g.37627877C>T	ENSP00000398880:p.Gln598*	TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Nonsense_Mutation_p.Q598*	p.Q598*	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			2	1825	+			598					A7E2B2|B4DYX4|B9EIQ6|O94978	Nonsense_Mutation	SNP	ENST00000447079.4	37	c.1792C>T	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	C	38	7.207740	0.98136	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	.	.	.	5.79	5.79	0.91817	.	0.149275	0.31484	N	0.007576	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	-4.0772	19.0299	0.92952	0.0:1.0:0.0:0.0	.	.	.	.	X	598	.	ENSP00000407720:Q598X	Q	+	1	0	CDK12	34881403	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.899000	0.69846	2.736000	0.93811	0.655000	0.94253	CAG		0.488	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		60	136	0	0	0	1	0	60	136				
KCNT2	343450	broad.mit.edu	37	1	196274364	196274364	+	Splice_Site	SNP	C	C	A			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr1:196274364C>A	ENST00000294725.9	-	22	3510	c.2595G>T	c.(2593-2595)aaG>aaT	p.K865N	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000367433.5_Splice_Site_p.K841N|KCNT2_ENST00000367431.4_Splice_Site_p.K791N|KCNT2_ENST00000609185.1_Splice_Site_p.K791N			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	865					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GGGGTCTTACCTTTTCCAGTT	0.338																																						ENST00000367433.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						c.e21+1		potassium channel, subfamily T, member 2							115.0	107.0	110.0					1																	196274364		2203	4300	6503	SO:0001630	splice_region_variant	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196274364C>A	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.2595+1G>T	1.37:g.196274364C>A						KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Splice_Site_p.K865_splice|KCNT2_ENST00000367431.4_Splice_Site_p.K791_splice|KCNT2_ENST00000451324.2_Intron	p.K841_splice			Q6UVM3	KCNT2_HUMAN			21	2624	-			865					Q3SY59|Q5VTN1|Q6ZMT3	Splice_Site	SNP	ENST00000294725.9	37	c.2523_splice	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.477753	0.84640	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.79033	-1.23;-1.23;-1.23	4.54	4.54	0.55810	.	0.096198	0.45606	D	0.000354	T	0.82038	0.4950	L	0.49778	1.585	0.80722	D	1	P;P;P;P;P	0.52577	0.871;0.954;0.954;0.954;0.871	B;P;P;P;B	0.55871	0.342;0.786;0.771;0.786;0.342	T	0.81180	-0.1050	9	.	.	.	-13.6504	17.8249	0.88662	0.0:1.0:0.0:0.0	.	865;823;841;791;865	A9LNM6;Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;.;KCNT2_HUMAN	N	841;791;865	ENSP00000356403:K841N;ENSP00000356401:K791N;ENSP00000294725:K865N	.	K	-	3	2	KCNT2	194540987	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.589000	0.82641	2.511000	0.84671	0.650000	0.86243	AAG		0.338	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503	Missense_Mutation	3	33	1	0	0.00024832	1	0.000263072	3	33				
KIAA0513	9764	broad.mit.edu	37	16	85111074	85111074	+	Silent	SNP	G	G	A			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr16:85111074G>A	ENST00000566428.1	+	6	1249	c.618G>A	c.(616-618)gcG>gcA	p.A206A	KIAA0513_ENST00000258180.3_Silent_p.A206A|KIAA0513_ENST00000538274.1_Silent_p.A206A|KIAA0513_ENST00000567328.1_Silent_p.A206A			O60268	K0513_HUMAN	KIAA0513	206						cytoplasm (GO:0005737)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		AGAAGCCCGCGGGCAGCATCG	0.612																																						ENST00000566428.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18						c.(616-618)gcG>gcA		KIAA0513							33.0	38.0	37.0					16																	85111074		2198	4300	6498	SO:0001819	synonymous_variant	9764					cytoplasm		g.chr16:85111074G>A	AB011085	CCDS32499.1, CCDS67091.1, CCDS73919.1	16q24.1	2012-11-29			ENSG00000135709	ENSG00000135709			29058	protein-coding gene	gene with protein product		611675				9628581	Standard	XM_005256265		Approved		uc002fiu.3	O60268	OTTHUMG00000176597	ENST00000566428.1:c.618G>A	16.37:g.85111074G>A						KIAA0513_ENST00000258180.3_Silent_p.A206A|KIAA0513_ENST00000538274.1_Silent_p.A206A|KIAA0513_ENST00000567328.1_Silent_p.A206A	p.A206A			O60268	K0513_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.234)	6	1249	+			206					B4DSS5|D3DUM2|Q8N6G0	Silent	SNP	ENST00000566428.1	37	c.618G>A	CCDS32499.1																																																																																				0.612	KIAA0513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432736.1	NM_014732		10	23	0	0	0	1	0	10	23				
ZNF311	282890	broad.mit.edu	37	6	28963131	28963131	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr6:28963131T>C	ENST00000377179.3	-	7	2160	c.1648A>G	c.(1648-1650)Act>Gct	p.T550A	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	550					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						TTCTCTCCAGTGTGAATTCTT	0.448																																						ENST00000377179.3																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						c.(1648-1650)Act>Gct		zinc finger protein 311							98.0	90.0	93.0					6																	28963131		1511	2709	4220	SO:0001583	missense	282890				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:28963131T>C	AL833166	CCDS34357.1	6p21.33	2013-01-08			ENSG00000197935	ENSG00000197935		"""Zinc fingers, C2H2-type"", ""-"""	13847	protein-coding gene	gene with protein product							Standard	XM_006715067		Approved		uc003nlu.2	Q5JNZ3	OTTHUMG00000031292	ENST00000377179.3:c.1648A>G	6.37:g.28963131T>C	ENSP00000366384:p.Thr550Ala					ZNF311_ENST00000483450.1_5'UTR	p.T550A	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN			7	2160	-			550					A2BFK5|B0S7Y4|Q92971	Missense_Mutation	SNP	ENST00000377179.3	37	c.1648A>G	CCDS34357.1	.	.	.	.	.	.	.	.	.	.	T	14.27	2.485599	0.44147	.	.	ENSG00000197935	ENST00000377179;ENST00000535083	T	0.26518	1.73	3.69	3.69	0.42338	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09379	0.0231	L	0.35593	1.075	0.24781	N	0.992817	B	0.28512	0.214	B	0.33568	0.166	T	0.22836	-1.0205	9	0.72032	D	0.01	-10.8866	6.8036	0.23764	0.2086:0.0:0.0:0.7914	.	550	Q5JNZ3	ZN311_HUMAN	A	550;458	ENSP00000366384:T550A	ENSP00000366384:T550A	T	-	1	0	ZNF311	29071110	1.000000	0.71417	0.655000	0.29622	0.408000	0.30992	3.969000	0.56816	1.619000	0.50296	0.477000	0.44152	ACT		0.448	ZNF311-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076631.3	XM_212581		4	72	0	0	0	1	0	4	72				
RASGEF1C	255426	broad.mit.edu	37	5	179565029	179565029	+	Silent	SNP	G	G	A			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr5:179565029G>A	ENST00000393371.2	-	1	320	c.24C>T	c.(22-24)tcC>tcT	p.S8S	RASGEF1C_ENST00000361132.4_Silent_p.S8S|RASGEF1C_ENST00000522500.1_5'Flank|RASGEF1C_ENST00000519883.1_5'Flank			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	8					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGACCATGTCGGAGGCACTCA	0.657																																						ENST00000393371.2																			0				breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12						c.(22-24)tcC>tcT		RasGEF domain family, member 1C							59.0	54.0	56.0					5																	179565029		2203	4300	6503	SO:0001819	synonymous_variant	255426				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity	g.chr5:179565029G>A	AK093160	CCDS4452.1	5q35.3	2005-08-16			ENSG00000146090	ENSG00000146090			27400	protein-coding gene	gene with protein product						12477932	Standard	XM_006714839		Approved	FLJ35841	uc003mlr.3	Q8N431	OTTHUMG00000130914	ENST00000393371.2:c.24C>T	5.37:g.179565029G>A						RASGEF1C_ENST00000361132.4_Silent_p.S8S	p.S8S			Q8N431	RGF1C_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	320	-	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	8					D3DWQ7|Q7Z4T0|Q8NA49	Silent	SNP	ENST00000393371.2	37	c.24C>T	CCDS4452.1																																																																																				0.657	RASGEF1C-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253506.2	NM_175062		5	105	0	0	0	1	0	5	105				
OR2J2	26707	broad.mit.edu	37	6	29142063	29142063	+	Silent	SNP	T	T	A			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr6:29142063T>A	ENST00000377167.2	+	1	753	c.651T>A	c.(649-651)acT>acA	p.T217T		NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN	olfactory receptor, family 2, subfamily J, member 2	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						TCATTCTCACTACCTATGGTG	0.468																																						ENST00000377167.2																			0				endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						c.(649-651)acT>acA		olfactory receptor, family 2, subfamily J, member 2							156.0	130.0	138.0					6																	29142063		1944	4145	6089	SO:0001819	synonymous_variant	26707				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29142063T>A		CCDS43434.1	6p22.2-p21.31	2012-08-09			ENSG00000204700	ENSG00000204700		"""GPCR / Class A : Olfactory receptors"""	8260	protein-coding gene	gene with protein product							Standard	NM_030905		Approved	OR6-8, hs6M1-6, dJ80I19.4	uc011dlm.2	O76002	OTTHUMG00000031091	ENST00000377167.2:c.651T>A	6.37:g.29142063T>A							p.T217T	NM_030905.2	NP_112167.2	O76002	OR2J2_HUMAN			1	753	+			217					A6NCU9|A6NLD0|B0UY53|Q32N09|Q5ST39|Q5SUJ6|Q6IF24|Q9GZK2|Q9GZL3	Silent	SNP	ENST00000377167.2	37	c.651T>A	CCDS43434.1																																																																																				0.468	OR2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076131.2			6	70	0	0	0	1	0	6	70				
DDIT4	54541	broad.mit.edu	37	10	74034783	74034783	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr10:74034783T>A	ENST00000307365.3	+	3	737	c.536T>A	c.(535-537)cTg>cAg	p.L179Q	RP11-442H21.2_ENST00000491934.2_RNA	NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN	DNA-damage-inducible transcript 4	179					brain development (GO:0007420)|cell proliferation (GO:0008283)|defense response to virus (GO:0051607)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of glycolytic process (GO:0045820)|negative regulation of intracellular signal transduction (GO:1902532)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of TOR signaling (GO:0032007)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron death (GO:1901216)|protein complex disassembly (GO:0043241)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|mitochondrion (GO:0005739)				cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						ACCCTCGTGCTGCGCCTGGAC	0.657											OREG0020262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000307365.3																			0				cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						c.(535-537)cTg>cAg		DNA-damage-inducible transcript 4							27.0	29.0	28.0					10																	74034783		2203	4300	6503	SO:0001583	missense	54541				apoptosis			g.chr10:74034783T>A	AK000507	CCDS7315.1	10q22.1	2008-05-14			ENSG00000168209	ENSG00000168209			24944	protein-coding gene	gene with protein product	"""HIF-1 responsive RTP801"""	607729				11884613	Standard	NM_019058		Approved	RTP801, FLJ20500, REDD-1, REDD1, Dig2	uc001jsx.1	Q9NX09	OTTHUMG00000018435	ENST00000307365.3:c.536T>A	10.37:g.74034783T>A	ENSP00000307305:p.Leu179Gln		OREG0020262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1149	RP11-442H21.2_ENST00000491934.2_RNA	p.L179Q	NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN			3	737	+			179					Q9H0S3	Missense_Mutation	SNP	ENST00000307365.3	37	c.536T>A	CCDS7315.1	.	.	.	.	.	.	.	.	.	.	T	25.8	4.674364	0.88445	.	.	ENSG00000168209	ENST00000307365	T	0.60171	0.21	5.21	5.21	0.72293	.	0.000000	0.64402	D	0.000001	T	0.75649	0.3878	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79327	-0.1849	10	0.87932	D	0	-12.8105	15.1019	0.72284	0.0:0.0:0.0:1.0	.	179	Q9NX09	DDIT4_HUMAN	Q	179	ENSP00000307305:L179Q	ENSP00000307305:L179Q	L	+	2	0	DDIT4	73704789	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.596000	0.82721	1.960000	0.56953	0.460000	0.39030	CTG		0.657	DDIT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048577.1	NM_019058		6	31	0	0	0	1	0	6	31				
KIF20A	10112	broad.mit.edu	37	5	137519025	137519025	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr5:137519025G>T	ENST00000394894.3	+	8	1226	c.1000G>T	c.(1000-1002)Gat>Tat	p.D334Y	KIF20A_ENST00000508792.1_Missense_Mutation_p.D316Y	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	334	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule bundle formation (GO:0001578)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)|transporter activity (GO:0005215)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GCTATGCGAGGATCAAAATGG	0.488																																						ENST00000394894.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27						c.(1000-1002)Gat>Tat		kinesin family member 20A							64.0	64.0	64.0					5																	137519025		2203	4300	6503	SO:0001583	missense	10112				cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity	g.chr5:137519025G>T	AF070672	CCDS4199.1	5q31	2008-02-05	2003-01-13	2003-01-17	ENSG00000112984	ENSG00000112984		"""Kinesins"""	9787	protein-coding gene	gene with protein product		605664	"""RAB6 interacting, kinesin-like (rabkinesin6)"""	RAB6KIFL		11416179, 10806357	Standard	NM_005733		Approved		uc003lcj.3	O95235	OTTHUMG00000129195	ENST00000394894.3:c.1000G>T	5.37:g.137519025G>T	ENSP00000378356:p.Asp334Tyr					KIF20A_ENST00000508792.1_Missense_Mutation_p.D316Y	p.D334Y	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		8	1226	+			334			Kinesin-motor.		B4DL79|D3DQB6	Missense_Mutation	SNP	ENST00000394894.3	37	c.1000G>T	CCDS4199.1	.	.	.	.	.	.	.	.	.	.	G	19.85	3.904418	0.72868	.	.	ENSG00000112984	ENST00000394894;ENST00000508792	T;T	0.54675	0.56;0.56	5.4	5.4	0.78164	Kinesin, motor domain (4);	0.000000	0.46442	D	0.000284	T	0.77751	0.4177	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81508	-0.0901	10	0.72032	D	0.01	-15.4338	19.1897	0.93660	0.0:0.0:1.0:0.0	.	316;334	B4DL79;O95235	.;KI20A_HUMAN	Y	334;316	ENSP00000378356:D334Y;ENSP00000420880:D316Y	ENSP00000378356:D334Y	D	+	1	0	KIF20A	137546924	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	9.476000	0.97823	2.548000	0.85928	0.655000	0.94253	GAT		0.488	KIF20A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251272.1	NM_005733		14	53	1	0	1.3612e-06	1	1.53314e-06	14	53				
CNTNAP1	8506	broad.mit.edu	37	17	40847632	40847632	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr17:40847632G>T	ENST00000264638.4	+	19	3303	c.3086G>T	c.(3085-3087)aGc>aTc	p.S1029I	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	1029					axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)	p.S1029I(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CACATGCTGAGCCGGCCAGTG	0.617																																						ENST00000264638.4																			1	Substitution - Missense(1)	p.S1029I(1)	lung(1)	NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(3085-3087)aGc>aTc		contactin associated protein 1							46.0	48.0	47.0					17																	40847632		2202	4300	6502	SO:0001583	missense	8506				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	g.chr17:40847632G>T	U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.3086G>T	17.37:g.40847632G>T	ENSP00000264638:p.Ser1029Ile					CTD-3193K9.3_ENST00000592440.1_RNA	p.S1029I	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.143)	19	3303	+		Breast(137;0.000143)	1029						Missense_Mutation	SNP	ENST00000264638.4	37	c.3086G>T	CCDS11436.1	.	.	.	.	.	.	.	.	.	.	G	15.11	2.737350	0.49045	.	.	ENSG00000108797	ENST00000264638	D	0.90504	-2.68	4.99	4.02	0.46733	Concanavalin A-like lectin/glucanase (1);	0.000000	0.85682	D	0.000000	T	0.80105	0.4562	N	0.14661	0.345	0.36034	D	0.839592	B	0.19073	0.033	B	0.14023	0.01	T	0.75897	-0.3155	10	0.22109	T	0.4	.	9.4603	0.38781	0.0961:0.0:0.9039:0.0	.	1029	P78357	CNTP1_HUMAN	I	1029	ENSP00000264638:S1029I	ENSP00000264638:S1029I	S	+	2	0	CNTNAP1	38101158	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.388000	0.52509	1.316000	0.45131	0.655000	0.94253	AGC		0.617	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		7	76	1	0	0.27861	1	0.283917	7	76				
TCEA1	6917	broad.mit.edu	37	8	54900745	54900745	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr8:54900745C>T	ENST00000521604.2	-	5	798	c.395G>A	c.(394-396)cGg>cAg	p.R132Q	TCEA1_ENST00000522635.1_Intron|TCEA1_ENST00000396401.3_Missense_Mutation_p.R111Q|TCEA1_ENST00000521086.2_5'UTR	NM_006756.2	NP_006747.1	P23193	TCEA1_HUMAN	transcription elongation factor A (SII), 1	132					DNA repair (GO:0006281)|erythrocyte differentiation (GO:0030218)|gene expression (GO:0010467)|nucleotide-excision repair (GO:0006289)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|regulation of DNA-templated transcription, elongation (GO:0032784)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699)			GCTTGGTGCCCGAGGAAAGGA	0.468			T	PLAG1	salivary adenoma																																	ENST00000521604.2				Dom	yes		8	8q11.2	6917	T	"""transcription elongation factor A (SII), 1"""			E	PLAG1		salivary adenoma		0				breast(1)|large_intestine(1)|lung(1)|skin(1)	4						c.(394-396)cGg>cAg		transcription elongation factor A (SII), 1							93.0	92.0	93.0					8																	54900745		1983	4144	6127	SO:0001583	missense	6917				positive regulation of viral transcription|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	nucleoplasm	DNA binding|translation elongation factor activity|zinc ion binding	g.chr8:54900745C>T	X62585	CCDS47857.1, CCDS47858.1	8q11.2	2011-01-25			ENSG00000187735	ENSG00000187735		"""General transcription factors"""	11612	protein-coding gene	gene with protein product		601425		TCEA, GTF2S		8812434, 8112616	Standard	NM_006756		Approved	SII, TF2S, TFIIS	uc003xru.3	P23193	OTTHUMG00000164262	ENST00000521604.2:c.395G>A	8.37:g.54900745C>T	ENSP00000428426:p.Arg132Gln					TCEA1_ENST00000396401.3_Missense_Mutation_p.R111Q|TCEA1_ENST00000522635.1_Intron|TCEA1_ENST00000521086.2_5'UTR	p.R132Q	NM_006756.2	NP_006747.1	P23193	TCEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699)		5	798	-		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	132					A6NF25|A8K339|Q15563|Q6FG87	Missense_Mutation	SNP	ENST00000521604.2	37	c.395G>A	CCDS47858.1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.701806	0.48307	.	.	ENSG00000187735	ENST00000396401;ENST00000521604	T;T	0.43294	0.95;0.95	5.63	5.63	0.86233	Transcription elongation factor S-II, central domain (2);	0.062092	0.64402	D	0.000004	T	0.31670	0.0804	N	0.19112	0.55	0.80722	D	1	B;B	0.20988	0.05;0.003	B;B	0.15870	0.014;0.002	T	0.06516	-1.0822	10	0.20519	T	0.43	-0.078	20.0368	0.97565	0.0:1.0:0.0:0.0	.	111;132	P23193-2;P23193	.;TCEA1_HUMAN	Q	111;132	ENSP00000395483:R111Q;ENSP00000428426:R132Q	ENSP00000395483:R111Q	R	-	2	0	TCEA1	55063298	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.443000	0.59994	2.818000	0.97014	0.591000	0.81541	CGG		0.468	TCEA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377975.2	NM_006756		7	22	0	0	0	1	0	7	22				
NDNF	79625	broad.mit.edu	37	4	121958241	121958241	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr4:121958241G>T	ENST00000379692.4	-	4	1411	c.885C>A	c.(883-885)aaC>aaA	p.N295K	NDNF_ENST00000506900.1_5'UTR	NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	295	Fibronectin type-III 1.				cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						AGATGTTCTTGTTTCCTATGC	0.458																																						ENST00000379692.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						c.(883-885)aaC>aaA		neuron-derived neurotrophic factor							123.0	117.0	119.0					4																	121958241		2203	4300	6503	SO:0001583	missense	79625							g.chr4:121958241G>T	BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 31"""	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.885C>A	4.37:g.121958241G>T	ENSP00000369014:p.Asn295Lys					NDNF_ENST00000506900.1_5'UTR	p.N295K	NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN			4	1411	-			295			Fibronectin type-III 1.		A8K0Q0|Q6UWE5|Q9H5P7	Missense_Mutation	SNP	ENST00000379692.4	37	c.885C>A	CCDS3717.2	.	.	.	.	.	.	.	.	.	.	G	11.83	1.756358	0.31137	.	.	ENSG00000173376	ENST00000379692	.	.	.	5.77	0.943	0.19531	.	0.039984	0.85682	D	0.000000	T	0.58047	0.2095	M	0.65975	2.015	0.58432	D	0.999999	B	0.20164	0.042	B	0.26202	0.067	T	0.54774	-0.8243	9	0.52906	T	0.07	-39.7388	10.2735	0.43497	0.3344:0.0:0.6656:0.0	.	295	Q8TB73	NDNF_HUMAN	K	295	.	ENSP00000369014:N295K	N	-	3	2	NDNF	122177691	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	0.553000	0.23391	0.062000	0.16340	0.655000	0.94253	AAC		0.458	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256532.2	NM_024574		3	51	1	0	1	1	1	3	51				
IL12A	3592	broad.mit.edu	37	3	159710861	159710861	+	Silent	SNP	A	A	G			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr3:159710861A>G	ENST00000305579.2	+	3	634	c.327A>G	c.(325-327)acA>acG	p.T109T	IL12A-AS1_ENST00000497452.1_RNA|IL12A_ENST00000466512.1_Silent_p.T109T|IL12A_ENST00000480787.1_Intron	NM_000882.3	NP_000873.2	P29459	IL12A_HUMAN	interleukin 12A	75					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|defense response to Gram-positive bacterium (GO:0050830)|defense response to protozoan (GO:0042832)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cell adhesion (GO:0045785)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|response to lipopolysaccharide (GO:0032496)|response to UV-B (GO:0010224)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|interleukin-12 complex (GO:0043514)	interleukin-12 beta subunit binding (GO:0042163)|interleukin-12 receptor binding (GO:0005143)|interleukin-27 binding (GO:0045513)|protein heterodimerization activity (GO:0046982)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	9			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AAGATATCACAAAAGATAAAA	0.378																																						ENST00000305579.2																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	9						c.(325-327)acA>acG		interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)							98.0	108.0	105.0					3																	159710861		2203	4300	6503	SO:0001819	synonymous_variant	3592				cell cycle arrest|cell migration|defense response to Gram-positive bacterium|immune response|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of cell adhesion|positive regulation of interferon-gamma production|positive regulation of natural killer cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of NK T cell activation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of tyrosine phosphorylation of Stat4 protein|response to lipopolysaccharide|response to UV-B|response to virus	interleukin-12 complex	cytokine activity|growth factor activity|interleukin-12 receptor binding|interleukin-27 binding|protein heterodimerization activity	g.chr3:159710861A>G	M65271	CCDS3187.1	3q25.33	2014-04-04	2014-04-04		ENSG00000168811	ENSG00000168811		"""Interleukins and interleukin receptors"""	5969	protein-coding gene	gene with protein product	"""natural killer cell stimulatory factor 1, 35 kD subunit"", ""cytotoxic lymphocyte maturation factor 1, p35"", ""interleukin 12, p35"", ""IL-12, subunit p35"", ""NF cell stimulatory factor chain 1"", ""interleukin-12 alpha chain"", ""IL35 subunit"""	161560	"""interleukin 12A (natural killer cell stimulatory factor 1, cytotoxic lymphocyte maturation factor 1, p35)"""	NKSF1		1673147	Standard	NM_000882		Approved	CLMF, IL-12A, p35, NFSK	uc003fcx.3	P29459	OTTHUMG00000158942	ENST00000305579.2:c.327A>G	3.37:g.159710861A>G						CTD-2049J23.2_ENST00000497452.1_RNA|IL12A_ENST00000480787.1_Intron|IL12A_ENST00000466512.1_Silent_p.T109T	p.T109T	NM_000882.3	NP_000873.2	P29459	IL12A_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		3	634	+			75					Q96QZ1	Silent	SNP	ENST00000305579.2	37	c.327A>G	CCDS3187.1																																																																																				0.378	IL12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352602.2	NM_000882		4	74	0	0	0	1	0	4	74				
STAT1	6772	broad.mit.edu	37	2	191862718	191862718	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr2:191862718T>G	ENST00000361099.3	-	9	1036	c.649A>C	c.(649-651)Ata>Cta	p.I217L	STAT1_ENST00000392322.3_Missense_Mutation_p.I217L|STAT1_ENST00000409465.1_Missense_Mutation_p.I217L|STAT1_ENST00000540176.1_Missense_Mutation_p.N186T|STAT1_ENST00000392323.2_Missense_Mutation_p.I219L	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	217					apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-beta (GO:0035458)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of macrophage fusion (GO:0034240)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|renal tubule development (GO:0061326)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|tumor necrosis factor receptor binding (GO:0005164)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)			AACTCTATTATTTTGTGAACT	0.343																																						ENST00000361099.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(649-651)Ata>Cta		signal transducer and activator of transcription 1, 91kDa	Fludarabine(DB01073)						70.0	68.0	68.0					2																	191862718		2203	4300	6503	SO:0001583	missense	6772				activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191862718T>G		CCDS2309.1, CCDS42793.1	2q32.2-q32.3	2014-09-17	2002-08-29		ENSG00000115415	ENSG00000115415		"""SH2 domain containing"""	11362	protein-coding gene	gene with protein product	"""transcription factor ISGF-3 components p91/p84"""	600555	"""signal transducer and activator of transcription 1, 91kD"""			7885841	Standard	NM_139266		Approved	STAT91, ISGF-3	uc002usj.2	P42224	OTTHUMG00000132699	ENST00000361099.3:c.649A>C	2.37:g.191862718T>G	ENSP00000354394:p.Ile217Leu					STAT1_ENST00000540176.1_Missense_Mutation_p.N186T|STAT1_ENST00000392322.3_Missense_Mutation_p.I217L|STAT1_ENST00000409465.1_Missense_Mutation_p.I217L|STAT1_ENST00000392323.2_Missense_Mutation_p.I219L	p.I217L	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		9	1036	-			217					A8K989|B2RCA0|D2KFR8|D3DPI7|Q53S88|Q53XW4|Q68D00|Q9UDL5	Missense_Mutation	SNP	ENST00000361099.3	37	c.649A>C	CCDS2309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	3.367|3.367	-0.129172|-0.129172	0.06753|0.06753	.|.	.|.	ENSG00000115415|ENSG00000115415	ENST00000361099;ENST00000409465;ENST00000392322;ENST00000392323;ENST00000544783|ENST00000540176	T;T;T;T|T	0.58060|0.61742	0.36;0.36;0.36;0.36|0.08	5.28|5.28	5.28|5.28	0.74379|0.74379	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);|.	0.220118|.	0.53938|.	D|.	0.000048|.	T|T	0.53932|0.53932	0.1827|0.1827	L|L	0.41573|0.41573	1.285|1.285	0.21782|0.21782	N|N	0.999544|0.999544	B;B|.	0.13145|.	0.007;0.001|.	B;B|.	0.13407|.	0.006;0.009|.	T|T	0.44757|0.44757	-0.9307|-0.9307	10|7	0.02654|0.13108	T|T	1|0.6	-18.7362|-18.7362	15.3876|15.3876	0.74714|0.74714	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	217;217|.	P42224-2;P42224|.	.;STAT1_HUMAN|.	L|T	217;217;217;219;125|186	ENSP00000354394:I217L;ENSP00000386244:I217L;ENSP00000376136:I217L;ENSP00000376137:I219L|ENSP00000438703:N186T	ENSP00000354394:I217L|ENSP00000394512:N186T	I|N	-|-	1|2	0|0	STAT1|STAT1	191570963|191570963	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.122000|0.122000	0.20287|0.20287	4.745000|4.745000	0.62125|0.62125	2.217000|2.217000	0.71921|0.71921	0.533000|0.533000	0.62120|0.62120	ATA|AAT		0.343	STAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255997.3	NM_007315		15	27	0	0	0	1	0	15	27				
FCGBP	8857	broad.mit.edu	37	19	40411866	40411866	+	Silent	SNP	C	C	T	rs144633711		TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr19:40411866C>T	ENST00000221347.6	-	7	3769	c.3762G>A	c.(3760-3762)gcG>gcA	p.A1254A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1254	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGTCTCCTGACGCCTGGCAGG	0.677																																						ENST00000221347.6																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(3760-3762)gcG>gcA		Fc fragment of IgG binding protein		C		1,4405	2.1+/-5.4	0,1,2202	79.0	69.0	72.0		3762	-9.1	0.0	19	dbSNP_134	72	0,8600		0,0,4300	no	coding-synonymous	FCGBP	NM_003890.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		1254/5406	40411866	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8857					extracellular region	protein binding	g.chr19:40411866C>T	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.3762G>A	19.37:g.40411866C>T							p.A1254A	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		7	3769	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		1254			VWFD 3.		O95784	Silent	SNP	ENST00000221347.6	37	c.3762G>A	CCDS12546.1																																																																																				0.677	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		17	58	0	0	0	1	0	17	58				
GABRG1	2565	broad.mit.edu	37	4	46043172	46043172	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr4:46043172C>A	ENST00000295452.4	-	9	1398	c.1231G>T	c.(1231-1233)Gat>Tat	p.D411Y		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	411					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.D411N(1)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CTGGCACAATCTTTGCCCTCC	0.438																																						ENST00000295452.4																			1	Substitution - Missense(1)	p.D411N(1)	skin(1)	breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(1231-1233)Gat>Tat		gamma-aminobutyric acid (GABA) A receptor, gamma 1							118.0	118.0	118.0					4																	46043172		2203	4300	6503	SO:0001583	missense	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46043172C>A	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.1231G>T	4.37:g.46043172C>A	ENSP00000295452:p.Asp411Tyr						p.D411Y	NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	9	1398	-			411					Q5H9T8	Missense_Mutation	SNP	ENST00000295452.4	37	c.1231G>T	CCDS3470.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.739471	0.89573	.	.	ENSG00000163285	ENST00000295452	D	0.84660	-1.88	5.6	5.6	0.85130	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.89705	0.6792	M	0.62723	1.935	0.80722	D	1	D	0.54397	0.966	P	0.55667	0.781	D	0.90494	0.4469	10	0.87932	D	0	.	18.6146	0.91297	0.0:1.0:0.0:0.0	.	411	Q8N1C3	GBRG1_HUMAN	Y	411	ENSP00000295452:D411Y	ENSP00000295452:D411Y	D	-	1	0	GABRG1	45737929	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.741000	0.84997	2.640000	0.89533	0.585000	0.79938	GAT		0.438	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		5	81	1	0	0.000157383	1	0.0001684	5	81				
FGD1	2245	broad.mit.edu	37	X	54481902	54481902	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chrX:54481902C>T	ENST00000375135.3	-	12	2727	c.1994G>A	c.(1993-1995)cGc>cAc	p.R665H		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	665	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.R665L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CTCGAGGGAGCGCTGCTTTCC	0.557																																						ENST00000375135.3																			1	Substitution - Missense(1)	p.R665L(1)	lung(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						c.(1993-1995)cGc>cAc		FYVE, RhoGEF and PH domain containing 1							120.0	87.0	98.0					X																	54481902		2203	4300	6503	SO:0001583	missense	2245				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chrX:54481902C>T	U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3663	protein-coding gene	gene with protein product		300546	"""faciogenital dysplasia (Aarskog-Scott syndrome)"""	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.1994G>A	X.37:g.54481902C>T	ENSP00000364277:p.Arg665His						p.R665H	NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN			12	2727	-			665			PH 1.		Q5H999|Q8N4D9	Missense_Mutation	SNP	ENST00000375135.3	37	c.1994G>A	CCDS14359.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.735400	0.89482	.	.	ENSG00000102302	ENST00000375135	D	0.89196	-2.48	5.01	5.01	0.66863	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.52532	D	0.000076	D	0.95211	0.8447	M	0.89414	3.03	0.50632	D	0.999882	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.993	D	0.96049	0.9030	10	0.87932	D	0	-6.9391	16.1456	0.81563	0.0:1.0:0.0:0.0	.	423;665	B4DS99;P98174	.;FGD1_HUMAN	H	665	ENSP00000364277:R665H	ENSP00000364277:R665H	R	-	2	0	FGD1	54498627	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.476000	0.66793	2.328000	0.79073	0.600000	0.82982	CGC		0.557	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	NM_004463		6	16	0	0	0	1	0	6	16				
IFT52	51098	broad.mit.edu	37	20	42265850	42265850	+	Silent	SNP	G	G	A			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr20:42265850G>A	ENST00000373030.3	+	12	1207	c.1077G>A	c.(1075-1077)acG>acA	p.T359T	IFT52_ENST00000373039.4_Silent_p.T359T	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52	359					cilium morphogenesis (GO:0060271)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube formation (GO:0001841)|regulation of protein processing (GO:0070613)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary base (GO:0097546)|ciliary tip (GO:0097542)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|photoreceptor connecting cilium (GO:0032391)	protein C-terminus binding (GO:0008022)			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TAGATGAAACGTTCTCCTCTG	0.418																																						ENST00000373030.3																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21						c.(1075-1077)acG>acA		intraflagellar transport 52 homolog (Chlamydomonas)							85.0	85.0	85.0					20																	42265850		2203	4300	6503	SO:0001819	synonymous_variant	51098					intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding	g.chr20:42265850G>A	AF151811	CCDS33470.1	20q12-q13.1	2014-07-03	2014-07-03	2005-11-02	ENSG00000101052	ENSG00000101052		"""Intraflagellar transport homologs"""	15901	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 9"", ""intraflagellar transport 52 homolog (Chlamydomonas)"""	C20orf9		10810093	Standard	NM_016004		Approved	CGI-53, NGD5, dJ1028D15.1, NGD2	uc002xkw.3	Q9Y366	OTTHUMG00000032513	ENST00000373030.3:c.1077G>A	20.37:g.42265850G>A						IFT52_ENST00000373039.4_Silent_p.T359T	p.T359T	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	COAD - Colon adenocarcinoma(18;0.0031)		12	1207	+		Myeloproliferative disorder(115;0.00452)	359					B3KMA1|E1P5W9|Q5H8Z0|Q9H1G3|Q9H1G4|Q9H1H2	Silent	SNP	ENST00000373030.3	37	c.1077G>A	CCDS33470.1																																																																																				0.418	IFT52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079317.1	NM_016004		24	53	0	0	0	1	0	24	53				
NEURL4	84461	broad.mit.edu	37	17	7229026	7229026	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr17:7229026C>T	ENST00000399464.2	-	7	1315	c.1300G>A	c.(1300-1302)Gac>Aac	p.D434N	NEURL4_ENST00000570460.1_Missense_Mutation_p.D412N|NEURL4_ENST00000315614.7_Missense_Mutation_p.D434N	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	434	NHR 2. {ECO:0000255|PROSITE- ProRule:PRU00400}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCAATGTGGTCACCCTCCTAA	0.532																																						ENST00000399464.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1300-1302)Gac>Aac		neuralized E3 ubiquitin protein ligase 4							102.0	105.0	104.0					17																	7229026		1950	4149	6099	SO:0001583	missense	84461							g.chr17:7229026C>T		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.1300G>A	17.37:g.7229026C>T	ENSP00000382390:p.Asp434Asn					NEURL4_ENST00000570460.1_Missense_Mutation_p.D412N|NEURL4_ENST00000315614.7_Missense_Mutation_p.D434N	p.D434N	NM_032442.2	NP_115818.2					7	1315	-								Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	ENST00000399464.2	37	c.1300G>A	CCDS42251.1	.	.	.	.	.	.	.	.	.	.	C	34	5.301133	0.95601	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.42513	0.97;0.98	5.2	5.2	0.72013	NEUZ (2);	0.000000	0.85682	D	0.000000	T	0.65512	0.2698	M	0.79011	2.435	0.53688	D	0.999972	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.65005	-0.6273	10	0.42905	T	0.14	-36.9254	16.2857	0.82720	0.0:1.0:0.0:0.0	.	434;434	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	N	434	ENSP00000319826:D434N;ENSP00000382390:D434N	ENSP00000319826:D434N	D	-	1	0	NEURL4	7169750	1.000000	0.71417	0.994000	0.49952	0.897000	0.52465	6.384000	0.73177	2.722000	0.93159	0.655000	0.94253	GAC		0.532	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		12	53	0	0	0	1	0	12	53				
GPR110	266977	broad.mit.edu	37	6	46991864	46991864	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr6:46991864A>G	ENST00000371253.2	-	5	582	c.367T>C	c.(367-369)Tac>Cac	p.Y123H	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000371243.2_Missense_Mutation_p.Y123H	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	123					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						GTGTGAAGGTAGCAGTTCTGG	0.493																																						ENST00000371253.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						c.(367-369)Tac>Cac		G protein-coupled receptor 110							138.0	111.0	120.0					6																	46991864		2203	4300	6503	SO:0001583	missense	266977				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46991864A>G	AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.367T>C	6.37:g.46991864A>G	ENSP00000360299:p.Tyr123His					GPR110_ENST00000371243.2_Missense_Mutation_p.Y123H|GPR110_ENST00000449332.2_5'UTR	p.Y123H	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN			5	582	-			123					Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Missense_Mutation	SNP	ENST00000371253.2	37	c.367T>C	CCDS34471.1	.	.	.	.	.	.	.	.	.	.	A	1.950	-0.441428	0.04604	.	.	ENSG00000153292	ENST00000371252;ENST00000371253;ENST00000371243	T	0.32023	1.47	5.51	-3.06	0.05379	.	0.964174	0.08518	N	0.933958	T	0.04137	0.0115	N	0.19112	0.55	0.26648	N	0.972151	B;B	0.09022	0.002;0.0	B;B	0.09377	0.004;0.001	T	0.39272	-0.9622	10	0.17832	T	0.49	3.4124	2.149	0.03795	0.2708:0.1595:0.4138:0.1559	.	123;123	Q5T601-2;Q5T601	.;GP110_HUMAN	H	123	ENSP00000360299:Y123H	ENSP00000360289:Y123H	Y	-	1	0	GPR110	47099823	0.877000	0.30153	0.021000	0.16686	0.261000	0.26267	0.811000	0.27198	-0.481000	0.06792	0.533000	0.62120	TAC		0.493	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840		21	33	0	0	0	1	0	21	33				
CT45A5	441521	broad.mit.edu	37	X	134948025	134948025	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chrX:134948025G>T	ENST00000463085.2	-	3	389	c.300C>A	c.(298-300)agC>agA	p.S100R	CT45A4_ENST00000420087.2_Intron|CT45A5_ENST00000491480.1_Missense_Mutation_p.S100R|CT45A5_ENST00000370724.3_Missense_Mutation_p.S100R			Q6NSH3	CT455_HUMAN	cancer/testis antigen family 45, member A5	100										endometrium(1)|large_intestine(2)|lung(6)	9						CAGAGAAATTGCTGGTAACAT	0.423																																						ENST00000370724.3																			0				endometrium(1)|large_intestine(2)|lung(6)	9						c.(298-300)agC>agA		cancer/testis antigen family 45, member A5							219.0	198.0	205.0					X																	134948025		2188	4272	6460	SO:0001583	missense	441521							g.chrX:134948025G>T	AY743713	CCDS35406.1	Xq26.3	2009-03-12				ENSG00000269586			33270	protein-coding gene	gene with protein product	"""cancer/testis antigen CT45-5"""	300796				15905330	Standard	XM_006724759		Approved	CT45-5, CT45.5	uc022ces.1	Q6NSH3		ENST00000463085.2:c.300C>A	X.37:g.134948025G>T	ENSP00000424778:p.Ser100Arg					CT45A5_ENST00000491480.1_Missense_Mutation_p.S100R|CT45A4_ENST00000420087.2_Intron	p.S100R	NM_001007551.3|NM_001172288.1	NP_001007552.1|NP_001165759.1	Q6NSH3	CT455_HUMAN			3	544	-			100					A8K842|B7ZMC5	Missense_Mutation	SNP	ENST00000463085.2	37	c.300C>A	CCDS35406.1	.	.	.	.	.	.	.	.	.	.	G	10.20	1.283792	0.23392	.	.	ENSG00000242284	ENST00000370724;ENST00000491480	T;T	0.46451	0.87;0.87	2.4	1.51	0.23008	.	0.905899	0.09611	N	0.778863	T	0.53738	0.1815	L	0.53249	1.67	0.09310	N	1	D	0.69078	0.997	D	0.75484	0.986	T	0.34502	-0.9826	10	0.51188	T	0.08	-2.6711	4.728	0.12950	0.2021:0.0:0.7979:0.0	.	100	Q6NSH3	CT455_HUMAN	R	100	ENSP00000359759:S100R;ENSP00000425997:S100R	ENSP00000359759:S100R	S	-	3	2	CT45A5	134775691	0.045000	0.20229	0.001000	0.08648	0.018000	0.09664	2.800000	0.47900	0.237000	0.21200	0.365000	0.22127	AGC		0.423	CT45A5-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472589.1	NM_001007551		76	53	1	0	1.17954e-47	1	1.37185e-47	76	53				
ADAMTS20	80070	broad.mit.edu	37	12	43896163	43896163	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr12:43896163T>C	ENST00000389420.3	-	4	658	c.659A>G	c.(658-660)aAc>aGc	p.N220S	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.N220S	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	220					extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTCATTCATGTTGCTGTAGGT	0.323																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(658-660)aAc>aGc		ADAM metallopeptidase with thrombospondin type 1 motif, 20							155.0	169.0	164.0					12																	43896163		2203	4298	6501	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43896163T>C	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.659A>G	12.37:g.43896163T>C	ENSP00000374071:p.Asn220Ser					ADAMTS20_ENST00000553158.1_Missense_Mutation_p.N220S	p.N220S	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	4	658	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	220					A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.659A>G	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	T	0.027	-1.358738	0.01245	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.60548	0.36;0.18	4.66	0.563	0.17296	.	0.442698	0.20661	N	0.088021	T	0.27866	0.0686	N	0.14661	0.345	0.19300	N	0.999977	B	0.06786	0.001	B	0.09377	0.004	T	0.16482	-1.0401	10	0.06365	T	0.9	.	3.6728	0.08280	0.0:0.4121:0.2166:0.3713	.	220	P59510	ATS20_HUMAN	S	220	ENSP00000374071:N220S;ENSP00000448341:N220S	ENSP00000374068:N220S	N	-	2	0	ADAMTS20	42182430	0.019000	0.18553	0.004000	0.12327	0.159000	0.22180	-0.036000	0.12185	0.244000	0.21351	0.533000	0.62120	AAC		0.323	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		6	60	0	0	0	1	0	6	60				
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537																																						ENST00000564451.1																			2	Substitution - coding silent(2)	p.N415N(2)	prostate(1)|kidney(1)																																																0							g.chr16:90162513T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162513T>C						TUBB8P7_ENST00000567960.1_RNA								0	1866	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		3	94	0	0	0	1	0	3	94				
IL31RA	133396	broad.mit.edu	37	5	55204129	55204129	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr5:55204129T>C	ENST00000447346.2	+	11	1456	c.1391T>C	c.(1390-1392)aTt>aCt	p.I464T	IL31RA_ENST00000354961.4_Missense_Mutation_p.I445T|IL31RA_ENST00000490985.1_Missense_Mutation_p.I322T|IL31RA_ENST00000396834.1_Missense_Mutation_p.I445T|IL31RA_ENST00000359040.5_Missense_Mutation_p.I464T|IL31RA_ENST00000297015.3_Missense_Mutation_p.I322T|IL31RA_ENST00000396836.2_Missense_Mutation_p.I464T	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	432	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|homeostatic process (GO:0042592)|JAK-STAT cascade (GO:0007259)|macrophage differentiation (GO:0030225)|MAPK cascade (GO:0000165)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				GTGGAGAACATTGGCGTGAAG	0.483																																						ENST00000396834.1																			0				endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21						c.(1333-1335)aTt>aCt		interleukin 31 receptor A							147.0	123.0	131.0					5																	55204129		2203	4300	6503	SO:0001583	missense	133396				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity	g.chr5:55204129T>C	AY499339	CCDS3970.2, CCDS56365.1, CCDS56366.1, CCDS56367.1, CCDS75244.1, CCDS75245.1	5q11.2	2013-02-11			ENSG00000164509	ENSG00000164509		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	18969	protein-coding gene	gene with protein product		609510				15184896, 11877449	Standard	NM_139017		Approved	CRL3, GLM-R, CRL, Glmr, IL-31RA	uc003jql.3	Q8NI17	OTTHUMG00000097045	ENST00000447346.2:c.1391T>C	5.37:g.55204129T>C	ENSP00000415900:p.Ile464Thr					IL31RA_ENST00000297015.3_Missense_Mutation_p.I322T|IL31RA_ENST00000447346.2_Missense_Mutation_p.I464T|IL31RA_ENST00000490985.1_Missense_Mutation_p.I322T|IL31RA_ENST00000354961.4_Missense_Mutation_p.I445T|IL31RA_ENST00000396836.2_Missense_Mutation_p.I464T|IL31RA_ENST00000359040.5_Missense_Mutation_p.I464T	p.I445T	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN			13	1830	+		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)	432			Fibronectin type-III 5.		A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Missense_Mutation	SNP	ENST00000447346.2	37	c.1334T>C	CCDS3970.2	.	.	.	.	.	.	.	.	.	.	T	15.04	2.715893	0.48622	.	.	ENSG00000164509	ENST00000396836;ENST00000396834;ENST00000447346;ENST00000359040;ENST00000297015;ENST00000490985;ENST00000354961	T;T;T;T;T;T;T	0.58797	0.56;0.31;0.31;0.31;0.56;0.31;0.31	6.08	6.08	0.98989	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.320086	0.35870	N	0.002930	T	0.64103	0.2568	L	0.49513	1.565	0.33877	D	0.635693	P;P;P;P;P	0.47034	0.889;0.865;0.865;0.865;0.782	P;P;P;P;P	0.53861	0.736;0.521;0.521;0.618;0.519	T	0.71262	-0.4645	10	0.30078	T	0.28	-18.4641	14.167	0.65483	0.0:0.0:0.0:1.0	.	432;464;445;464;464	Q8NI17;Q8NI17-5;Q8NI17-3;Q8NI17-2;Q8NI17-8	IL31R_HUMAN;.;.;.;.	T	464;445;464;464;322;322;445	ENSP00000380048:I464T;ENSP00000380046:I445T;ENSP00000415900:I464T;ENSP00000351935:I464T;ENSP00000297015:I322T;ENSP00000427533:I322T;ENSP00000347047:I445T	ENSP00000297015:I322T	I	+	2	0	IL31RA	55239886	0.995000	0.38212	0.977000	0.42913	0.087000	0.18053	2.125000	0.42016	2.333000	0.79357	0.533000	0.62120	ATT		0.483	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214148.1	NM_139017		5	51	0	0	0	1	0	5	51				
WFDC10A	140832	broad.mit.edu	37	20	44258532	44258532	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr20:44258532A>T	ENST00000372643.3	+	1	368	c.80A>T	c.(79-81)aAg>aTg	p.K27M	WFDC9_ENST00000326000.1_Intron	NM_080753.2	NP_542791.1	Q9H1F0	WF10A_HUMAN	WAP four-disulfide core domain 10A	27						extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			large_intestine(2)	2		Myeloproliferative disorder(115;0.0122)				CGTGACAAGAAGAGGATGCAG	0.587											OREG0025983	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000372643.3																			0				large_intestine(2)	2						c.(79-81)aAg>aTg		WAP four-disulfide core domain 10A							164.0	128.0	140.0					20																	44258532		2203	4300	6503	SO:0001583	missense	140832					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:44258532A>T	AL031671	CCDS13363.1	20q13.11	2013-01-21	2003-02-21	2003-02-21	ENSG00000180305	ENSG00000180305		"""WAP four-disulfide core domain containing"""	16139	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 146"""	C20orf146		12206714	Standard	NM_080753		Approved	dJ688G8.3, WAP10	uc002xoz.3	Q9H1F0	OTTHUMG00000046331	ENST00000372643.3:c.80A>T	20.37:g.44258532A>T	ENSP00000361726:p.Lys27Met		OREG0025983	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	922	WFDC9_ENST00000326000.1_Intron	p.K27M	NM_080753.2	NP_542791.1	Q9H1F0	WF10A_HUMAN			1	368	+		Myeloproliferative disorder(115;0.0122)	27					A2RRE9|Q5TGZ7	Missense_Mutation	SNP	ENST00000372643.3	37	c.80A>T	CCDS13363.1	.	.	.	.	.	.	.	.	.	.	A	10.60	1.394655	0.25205	.	.	ENSG00000180305	ENST00000372643	T	0.20069	2.1	2.43	-1.2	0.09554	.	3.060220	0.01594	N	0.021727	T	0.26159	0.0638	.	.	.	0.09310	N	1	D	0.69078	0.997	P	0.53912	0.737	T	0.11542	-1.0583	9	0.37606	T	0.19	.	2.1255	0.03737	0.4267:0.0:0.3261:0.2472	.	27	Q9H1F0	WF10A_HUMAN	M	27	ENSP00000361726:K27M	ENSP00000361726:K27M	K	+	2	0	WFDC10A	43691946	0.000000	0.05858	0.000000	0.03702	0.101000	0.19017	-0.356000	0.07661	-0.311000	0.08754	-0.274000	0.10170	AAG		0.587	WFDC10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106944.2			3	48	0	0	0	1	0	3	48				
ABCC3	8714	broad.mit.edu	37	17	48741453	48741453	+	Missense_Mutation	SNP	C	C	T	rs201203647	byFrequency	TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr17:48741453C>T	ENST00000285238.8	+	10	1399	c.1319C>T	c.(1318-1320)gCg>gTg	p.A440V	ABCC3_ENST00000427699.1_Missense_Mutation_p.A440V	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	440	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	ATCATCCTGGCGATCTACTTC	0.552													C|||	2	0.000399361	0.0	0.0014	5008	,	,		20814	0.0		0.001	False		,,,				2504	0.0					ENST00000285238.8																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33						c.(1318-1320)gCg>gTg		ATP-binding cassette, sub-family C (CFTR/MRP), member 3	Glibenclamide(DB01016)						119.0	106.0	110.0					17																	48741453		2203	4300	6503	SO:0001583	missense	8714				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	g.chr17:48741453C>T	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.1319C>T	17.37:g.48741453C>T	ENSP00000285238:p.Ala440Val					ABCC3_ENST00000427699.1_Missense_Mutation_p.A440V	p.A440V	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		10	1399	+			440			ABC transmembrane type-1 1.		B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Missense_Mutation	SNP	ENST00000285238.8	37	c.1319C>T	CCDS32681.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	26.4	4.737240	0.89482	.	.	ENSG00000108846	ENST00000427699;ENST00000285238	D;D	0.89746	-2.56;-2.56	4.71	4.71	0.59529	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.94401	0.8199	M	0.77712	2.385	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.969	D	0.95110	0.8237	10	0.87932	D	0	-13.4845	17.8382	0.88707	0.0:1.0:0.0:0.0	.	440;440	O15438;O15438-5	MRP3_HUMAN;.	V	440	ENSP00000395160:A440V;ENSP00000285238:A440V	ENSP00000285238:A440V	A	+	2	0	ABCC3	46096452	1.000000	0.71417	0.944000	0.38274	0.686000	0.39977	7.605000	0.82844	2.420000	0.82092	0.591000	0.81541	GCG		0.552	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038		7	131	0	0	0	1	0	7	131				
YLPM1	56252	broad.mit.edu	37	14	75264385	75264385	+	Silent	SNP	C	C	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr14:75264385C>T	ENST00000325680.7	+	5	2509	c.2385C>T	c.(2383-2385)ccC>ccT	p.P795P	YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Silent_p.P600P	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	600					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GGCCAAGACCCAGATATGAAG	0.512																																						ENST00000325680.7																			0				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62						c.(2383-2385)ccC>ccT		YLP motif containing 1							32.0	34.0	34.0					14																	75264385		1871	4102	5973	SO:0001819	synonymous_variant	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75264385C>T	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000325680.7:c.2385C>T	14.37:g.75264385C>T						YLPM1_ENST00000238571.3_Silent_p.P600P|YLPM1_ENST00000552421.1_Intron	p.P795P	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	5	2509	+			600					P49752|Q96I64|Q9P1V7	Silent	SNP	ENST00000325680.7	37	c.2385C>T	CCDS45135.1																																																																																				0.512	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404451.1	NM_019589		3	8	0	0	0	1	0	3	8				
CYSLTR2	57105	broad.mit.edu	37	13	49281344	49281344	+	Missense_Mutation	SNP	G	G	C	rs202077345		TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr13:49281344G>C	ENST00000282018.3	+	1	394	c.391G>C	c.(391-393)Gtg>Ctg	p.V131L		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	131					immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell death (GO:0010942)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteinyl leukotriene receptor activity (GO:0001631)|leukotriene receptor activity (GO:0004974)			endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	TTTCCTGACCGTGCTGAGTGT	0.468																																						ENST00000282018.3																			0				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20						c.(391-393)Gtg>Ctg		cysteinyl leukotriene receptor 2	Nedocromil(DB00716)						217.0	208.0	211.0					13																	49281344		2203	4300	6503	SO:0001583	missense	57105				immune response	integral to membrane|plasma membrane		g.chr13:49281344G>C	AB038269	CCDS9412.1	13q14.2	2012-08-10			ENSG00000152207	ENSG00000152207		"""GPCR / Class A : Leukotriene receptors"""	18274	protein-coding gene	gene with protein product		605666				10913337, 1085123	Standard	NM_020377		Approved	CysLT(2), CYSLT2R	uc001vck.2	Q9NS75	OTTHUMG00000016906	ENST00000282018.3:c.391G>C	13.37:g.49281344G>C	ENSP00000282018:p.Val131Leu						p.V131L	NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN		GBM - Glioblastoma multiforme(99;1.19e-09)	1	394	+		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)	131					Q9HCQ2	Missense_Mutation	SNP	ENST00000282018.3	37	c.391G>C	CCDS9412.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.599073	0.66332	.	.	ENSG00000152207	ENST00000282018	T	0.37411	1.2	6.08	4.32	0.51571	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000014	T	0.33644	0.0870	L	0.49126	1.545	0.33023	D	0.529052	B	0.19331	0.035	B	0.20184	0.028	T	0.36866	-0.9730	10	0.17369	T	0.5	.	16.0587	0.80822	0.0:0.2539:0.7461:0.0	.	131	Q9NS75	CLTR2_HUMAN	L	131	ENSP00000282018:V131L	ENSP00000282018:V131L	V	+	1	0	CYSLTR2	48179345	0.805000	0.28982	0.992000	0.48379	0.883000	0.51084	4.079000	0.57613	0.874000	0.35823	-0.175000	0.13238	GTG		0.468	CYSLTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044894.1			48	149	0	0	0	1	0	48	149				
POTEE	445582	broad.mit.edu	37	2	131976139	131976139	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr2:131976139A>C	ENST00000356920.5	+	1	258	c.164A>C	c.(163-165)aAg>aCg	p.K55T	POTEE_ENST00000358087.5_Missense_Mutation_p.K55T|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	55					retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											TCTGCTATGAAGACACTCAGG	0.607																																						ENST00000356920.5																			0											c.(163-165)aAg>aCg		POTE ankyrin domain family, member E							152.0	154.0	154.0					2																	131976139		2203	4296	6499	SO:0001583	missense	445582						ATP binding	g.chr2:131976139A>C	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.164A>C	2.37:g.131976139A>C	ENSP00000439189:p.Lys55Thr					PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.K55T	p.K55T	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN			1	258	+			55					Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.164A>C	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	7.191	0.591462	0.13812	.	.	ENSG00000188219	ENST00000356920;ENST00000358087	T;T	0.80480	-1.38;1.23	0.1	0.1	0.14510	.	.	.	.	.	T	0.68522	0.3010	N	0.19112	0.55	0.09310	N	1	P	0.39094	0.659	B	0.42959	0.403	T	0.60326	-0.7285	8	0.87932	D	0	.	.	.	.	.	55	Q6S8J3	POTEE_HUMAN	T	55	ENSP00000439189:K55T;ENSP00000443049:K55T	ENSP00000439189:K55T	K	+	2	0	AC131180.1	131692609	0.002000	0.14202	0.017000	0.16124	0.018000	0.09664	0.231000	0.17872	0.147000	0.19030	0.145000	0.16022	AAG		0.607	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		15	266	0	0	0	1	0	15	266				
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1				archaelysin family metallopeptidase 2 pseudogene 1																		AAAATTCCACAAGTCTCTTGG	0.373																																						ENST00000430983.1																			0																																																			0							g.chr17:62968690A>G	AK056627		17q24.1	2012-10-16	2010-04-08		ENSG00000214174	ENSG00000214174			26491	pseudogene	pseudogene							Standard	NR_026903		Approved	FLJ32065	uc002jfb.3		OTTHUMG00000132075		17.37:g.62968690A>G								NR_026903.1						0	1554	-									RNA	SNP	ENST00000430983.1	37																																																																																						0.373	AMZ2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000255102.1	NM_153032		3	80	0	0	0	1	0	3	80				
KRT38	8687	broad.mit.edu	37	17	39595598	39595598	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr17:39595598G>A	ENST00000246646.3	-	3	588	c.589C>T	c.(589-591)Cgc>Tgc	p.R197C		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	197	Coil 1B.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				CGCAGGGAGCGCTCACTCTCC	0.622																																						ENST00000246646.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29						c.(589-591)Cgc>Tgc		keratin 38							68.0	64.0	65.0					17																	39595598		2203	4300	6503	SO:0001583	missense	8687					intermediate filament	structural molecule activity	g.chr17:39595598G>A	Y16794	CCDS11392.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000171360	ENSG00000171360		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6456	protein-coding gene	gene with protein product		604542	"""keratin, hair, acidic, 8"""	KRTHA8		9756910, 16831889	Standard	NM_006771		Approved		uc002hwq.1	O76015	OTTHUMG00000133439	ENST00000246646.3:c.589C>T	17.37:g.39595598G>A	ENSP00000246646:p.Arg197Cys						p.R197C	NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN			3	588	-		Breast(137;0.000496)	197			Coil 1B.|Rod.		A2RRM5|Q6A164	Missense_Mutation	SNP	ENST00000246646.3	37	c.589C>T	CCDS11392.1	.	.	.	.	.	.	.	.	.	.	G	11.33	1.607628	0.28623	.	.	ENSG00000171360	ENST00000246646	D	0.89123	-2.47	4.21	0.887	0.19200	Filament (1);	1.673740	0.03747	N	0.255949	D	0.84170	0.5413	L	0.43923	1.385	0.25560	N	0.987002	B	0.22346	0.068	B	0.15052	0.012	T	0.69785	-0.5051	10	0.66056	D	0.02	.	4.8965	0.13753	0.3474:0.1498:0.5028:0.0	.	197	O76015	KRT38_HUMAN	C	197	ENSP00000246646:R197C	ENSP00000246646:R197C	R	-	1	0	KRT38	36849124	0.000000	0.05858	0.446000	0.26920	0.131000	0.20780	-0.192000	0.09587	0.430000	0.26230	0.484000	0.47621	CGC		0.622	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257307.2	NM_006771		4	66	0	0	0	1	0	4	66				
SECTM1	6398	broad.mit.edu	37	17	80282491	80282491	+	Nonsense_Mutation	SNP	T	T	A			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr17:80282491T>A	ENST00000269389.3	-	3	720	c.370A>T	c.(370-372)Aga>Tga	p.R124*	SECTM1_ENST00000580437.1_Nonsense_Mutation_p.R124*	NM_003004.2	NP_002995.1	Q8WVN6	SCTM1_HUMAN	secreted and transmembrane 1	124					immune response (GO:0006955)|mesoderm development (GO:0007498)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine activity (GO:0005125)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(2)|lung(1)	4	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			CTGTTATTTCTCTGGTGTCCC	0.642																																						ENST00000269389.3																			0				endometrium(1)|large_intestine(2)|lung(1)	4						c.(370-372)Aga>Tga		secreted and transmembrane 1							60.0	54.0	56.0					17																	80282491		2203	4300	6503	SO:0001587	stop_gained	6398				immune response|mesoderm development|positive regulation of I-kappaB kinase/NF-kappaB cascade	extracellular space|Golgi apparatus|integral to membrane|plasma membrane	cytokine activity|signal transducer activity	g.chr17:80282491T>A	U77643	CCDS11808.1	17q25	2008-07-18				ENSG00000141574			10707	protein-coding gene	gene with protein product	"""K12 protein"", ""type 1a transmembrane protein"""	602602				9480746	Standard	NM_003004		Approved	K12	uc002keo.3	Q8WVN6		ENST00000269389.3:c.370A>T	17.37:g.80282491T>A	ENSP00000269389:p.Arg124*					SECTM1_ENST00000580437.1_Nonsense_Mutation_p.R124*	p.R124*	NM_003004.2	NP_002995.1	Q8WVN6	SCTM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)		3	720	-	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		124					B2R7H0|O00466	Nonsense_Mutation	SNP	ENST00000269389.3	37	c.370A>T	CCDS11808.1	.	.	.	.	.	.	.	.	.	.	T	19.82	3.897957	0.72639	.	.	ENSG00000141574	ENST00000269389	.	.	.	3.6	-4.98	0.03019	.	.	.	.	.	.	.	.	.	.	.	0.49299	A	0.999779	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	0.1528	0.00095	0.3149:0.2119:0.146:0.3272	.	.	.	.	X	124	.	ENSP00000269389:R124X	R	-	1	2	SECTM1	77875780	0.008000	0.16893	0.001000	0.08648	0.095000	0.18619	-0.489000	0.06490	-1.089000	0.03073	0.372000	0.22366	AGA		0.642	SECTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442856.1	NM_003004		3	66	0	0	0	1	0	3	66				
DNM1P47	100216544	broad.mit.edu	37	15	102304747	102304747	+	RNA	SNP	A	A	G	rs201867308		TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr15:102304747A>G	ENST00000561463.1	+	0	12793									DNM1 pseudogene 47																		CTCGTGGAGGAGTCGGCAGAG	0.607																																						ENST00000561463.1																			0																																																			0							g.chr15:102304747A>G	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102304747A>G														0	12793	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.607	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		9	23	0	0	0	1	0	9	23				
SIRPA	140885	broad.mit.edu	37	20	1902301	1902301	+	Missense_Mutation	SNP	G	G	A	rs199733185		TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr20:1902301G>A	ENST00000358771.4	+	3	849	c.697G>A	c.(697-699)Gtc>Atc	p.V233I	SIRPA_ENST00000356025.3_Missense_Mutation_p.V233I|SIRPA_ENST00000400068.3_Missense_Mutation_p.V233I	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	233	Ig-like C1-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.V233I(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		GGTGGCCCACGTCACCTTGCA	0.617																																					GBM(155;1668 1920 5945 42733 48121)	ENST00000358771.4																			1	Substitution - Missense(1)	p.V233I(1)	lung(1)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21						c.(697-699)Gtc>Atc		signal-regulatory protein alpha							67.0	60.0	62.0					20																	1902301		2203	4296	6499	SO:0001583	missense	140885				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	g.chr20:1902301G>A	D86043	CCDS13022.1	20p13	2013-01-11	2006-03-29	2006-03-29	ENSG00000198053	ENSG00000198053		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	9662	protein-coding gene	gene with protein product		602461	"""protein tyrosine phosphatase, non-receptor type substrate 1"""	PTPNS1		9070220, 9062191, 16339511	Standard	XM_005260669		Approved	SHPS1, SIRP, MYD-1, BIT, P84, SHPS-1, SIRPalpha, CD172a, SIRPalpha2, MFR, SIRP-ALPHA-1	uc002wfr.3	P78324	OTTHUMG00000031682	ENST00000358771.4:c.697G>A	20.37:g.1902301G>A	ENSP00000351621:p.Val233Ile					SIRPA_ENST00000356025.3_Missense_Mutation_p.V233I|SIRPA_ENST00000400068.3_Missense_Mutation_p.V233I	p.V233I	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN		Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)	3	849	+			233			Ig-like C1-type 1.		A2A2E1|A8K411|B2R6C3|O00683|O43799|Q8N517|Q8TAL8|Q9H0Z2|Q9UDX2|Q9UIJ6|Q9Y4U9	Missense_Mutation	SNP	ENST00000358771.4	37	c.697G>A	CCDS13022.1	.	.	.	.	.	.	.	.	.	.	G	10.55	1.382458	0.24944	.	.	ENSG00000198053	ENST00000400068;ENST00000356025;ENST00000358771	T;T;T	0.02863	4.13;4.13;4.13	4.86	-7.7	0.01259	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	2.216010	0.01765	N	0.030825	T	0.02727	0.0082	L	0.27053	0.805	0.09310	N	1	B;B;B	0.14805	0.002;0.011;0.008	B;B;B	0.12156	0.002;0.007;0.006	T	0.30765	-0.9967	10	0.20519	T	0.43	.	13.8982	0.63785	0.7446:0.0:0.2554:0.0	.	213;233;233	B4DP97;P78324-2;P78324	.;.;SHPS1_HUMAN	I	233	ENSP00000382941:V233I;ENSP00000348307:V233I;ENSP00000351621:V233I	ENSP00000348307:V233I	V	+	1	0	SIRPA	1850301	0.000000	0.05858	0.000000	0.03702	0.766000	0.43426	-2.041000	0.01415	-1.573000	0.01659	-0.355000	0.07637	GTC		0.617	SIRPA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000077568.2	NM_080792		5	121	0	0	0	1	0	5	121				
SLC2A8	29988	broad.mit.edu	37	9	130167705	130167705	+	Missense_Mutation	SNP	C	C	T	rs200900591		TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr9:130167705C>T	ENST00000373371.3	+	9	1246	c.1157C>T	c.(1156-1158)gCg>gTg	p.A386V	SLC2A8_ENST00000485806.1_3'UTR|SLC2A8_ENST00000373360.3_Intron|SLC2A8_ENST00000373352.1_Missense_Mutation_p.A123V	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 8	386					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|male meiosis I (GO:0007141)|response to hypoxia (GO:0001666)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	glucose binding (GO:0005536)|glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						ACAGGCTTTGCGGTGGGCTGG	0.642																																						ENST00000373371.3																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						c.(1156-1158)gCg>gTg		solute carrier family 2 (facilitated glucose transporter), member 8		C	VAL/ALA	0,4406		0,0,2203	57.0	54.0	55.0		1157	5.3	0.6	9		55	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SLC2A8	NM_014580.3	64	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	386/478	130167705	2,13004	2203	4300	6503	SO:0001583	missense	29988					cytoplasmic vesicle membrane|integral to plasma membrane	D-glucose transmembrane transporter activity	g.chr9:130167705C>T	AJ245937	CCDS6870.1, CCDS65138.1, CCDS75903.1	9q33.3	2013-05-22	2008-09-02		ENSG00000136856	ENSG00000136856		"""Solute carriers"""	13812	protein-coding gene	gene with protein product		605245	"""solute carrier family 2 (facilitated glucose transporter) member 8"""			10671487, 10821868	Standard	NM_014580		Approved	GLUTX1, GLUT8	uc004bqu.4	Q9NY64	OTTHUMG00000020702	ENST00000373371.3:c.1157C>T	9.37:g.130167705C>T	ENSP00000362469:p.Ala386Val					SLC2A8_ENST00000485806.1_3'UTR|SLC2A8_ENST00000373352.1_Missense_Mutation_p.A123V|SLC2A8_ENST00000373360.3_Intron	p.A386V	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN			9	1246	+			386					Q8WUZ9|Q9NSC4	Missense_Mutation	SNP	ENST00000373371.3	37	c.1157C>T	CCDS6870.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.121198	0.77436	0.0	2.33E-4	ENSG00000136856	ENST00000373371;ENST00000451404;ENST00000373352;ENST00000439597;ENST00000423934;ENST00000373350;ENST00000430147	T;D;D;D;D;D	0.81821	0.21;-1.54;-1.54;-1.54;-1.54;-1.54	5.35	5.35	0.76521	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.098719	0.64402	D	0.000001	D	0.91570	0.7337	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	D	0.92858	0.6303	10	0.72032	D	0.01	.	18.1845	0.89789	0.0:1.0:0.0:0.0	.	386	Q9NY64	GTR8_HUMAN	V	386;223;123;225;251;251;225	ENSP00000362469:A386V;ENSP00000392434:A223V;ENSP00000362450:A123V;ENSP00000404893:A225V;ENSP00000389070:A251V;ENSP00000391213:A225V	ENSP00000362448:A251V	A	+	2	0	SLC2A8	129207526	1.000000	0.71417	0.627000	0.29227	0.198000	0.23893	7.426000	0.80270	2.674000	0.91012	0.655000	0.94253	GCG		0.642	SLC2A8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054177.1	NM_014580		3	62	0	0	0	1	0	3	62				
TRPM1	4308	broad.mit.edu	37	15	31359360	31359360	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr15:31359360T>C	ENST00000256552.6	-	6	671	c.524A>G	c.(523-525)aAa>aGa	p.K175R	MIR211_ENST00000384969.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.K153R|TRPM1_ENST00000542188.1_Missense_Mutation_p.K192R	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GGAGTGGTCTTTCAAGGCATC	0.478																																						ENST00000542188.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99						c.(574-576)aAa>aGa		transient receptor potential cation channel, subfamily M, member 1							117.0	116.0	117.0					15																	31359360		1913	4116	6029	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31359360T>C	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.524A>G	15.37:g.31359360T>C	ENSP00000256552:p.Lys175Arg					TRPM1_ENST00000397795.2_Missense_Mutation_p.K153R|TRPM1_ENST00000256552.6_Missense_Mutation_p.K175R	p.K192R	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	5	888	-		all_lung(180;1.92e-11)	153						Missense_Mutation	SNP	ENST00000256552.6	37	c.575A>G	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	T	31	5.061186	0.93846	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.02631	4.22;4.22;4.22	6.11	6.11	0.99139	.	0.000000	0.85682	D	0.000000	T	0.09992	0.0245	L	0.33485	1.01	0.80722	D	1	D;P	0.65815	0.995;0.892	D;P	0.77557	0.99;0.707	T	0.04811	-1.0925	10	0.87932	D	0	-36.4876	16.7021	0.85357	0.0:0.0:0.0:1.0	.	153;153	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	R	153;192;175;153	ENSP00000380897:K153R;ENSP00000437849:K192R;ENSP00000256552:K175R	ENSP00000256552:K175R	K	-	2	0	TRPM1	29146652	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	6.292000	0.72725	2.343000	0.79666	0.533000	0.62120	AAA		0.478	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		3	86	0	0	0	1	0	3	86				
MLLT3	4300	broad.mit.edu	37	9	20414337	20414337	+	Silent	SNP	G	G	A			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr9:20414337G>A	ENST00000380338.4	-	5	793	c.507C>T	c.(505-507)agC>agT	p.S169S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S166S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	169	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctgctactgc	0.542			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		0				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(505-507)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	14.0					9																	20414337		1704	3497	5201	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414337G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.507C>T	9.37:g.20414337G>A						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S166S	p.S169S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	793	-			169			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.507C>T	CCDS6494.1																																																																																				0.542	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		3	40	0	0	0	1	0	3	40				
TNS1	7145	broad.mit.edu	37	2	218712884	218712884	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr2:218712884G>A	ENST00000171887.4	-	17	2433	c.1981C>T	c.(1981-1983)Cgc>Tgc	p.R661C	TNS1_ENST00000430930.1_Missense_Mutation_p.R661C|TNS1_ENST00000480665.1_5'Flank|TNS1_ENST00000419504.1_Missense_Mutation_p.R661C	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	661	Gln-rich.				cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GGAGGTGGGCGAGgctgctgc	0.667																																						ENST00000171887.4																			0				breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(1981-1983)Cgc>Tgc		tensin 1							14.0	16.0	15.0					2																	218712884		2202	4299	6501	SO:0001583	missense	7145					cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr2:218712884G>A	AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.1981C>T	2.37:g.218712884G>A	ENSP00000171887:p.Arg661Cys					TNS1_ENST00000419504.1_Missense_Mutation_p.R661C|TNS1_ENST00000430930.1_Missense_Mutation_p.R661C	p.R661C	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)	17	2433	-		Renal(207;0.0483)|Lung NSC(271;0.213)	661			Gln-rich.		Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	c.1981C>T	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	G	7.249	0.602922	0.13939	.	.	ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930	D;D;D	0.98617	-5.03;-5.03;-5.03	4.42	2.56	0.30785	.	1.818830	0.02200	N	0.062156	D	0.95689	0.8598	N	0.16478	0.41	0.20489	N	0.999899	B;B;B;B;B	0.11235	0.004;0.002;0.002;0.001;0.0	B;B;B;B;B	0.04013	0.001;0.0;0.0;0.001;0.0	D	0.90663	0.4592	10	0.37606	T	0.19	.	6.7646	0.23560	0.1588:0.0:0.7005:0.1408	.	661;715;661;661;661	B2RU35;A1L0S7;Q9HBL0;E9PGF5;E9PF55	.;.;TENS1_HUMAN;.;.	C	661	ENSP00000171887:R661C;ENSP00000408724:R661C;ENSP00000406016:R661C	ENSP00000171887:R661C	R	-	1	0	TNS1	218421129	1.000000	0.71417	0.687000	0.30102	0.756000	0.42949	0.820000	0.27323	1.083000	0.41159	-0.291000	0.09656	CGC		0.667	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2	NM_022648		3	6	0	0	0	1	0	3	6				
IMPG1	3617	broad.mit.edu	37	6	76660739	76660739	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr6:76660739C>T	ENST00000369950.3	-	13	1553	c.1364G>A	c.(1363-1365)aGc>aAc	p.S455N	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AGAGAAGATGCTTGATGCCAT	0.483																																					Pancreas(37;839 1141 2599 26037)	ENST00000369950.3																			0				breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1363-1365)aGc>aAc		interphotoreceptor matrix proteoglycan 1							145.0	141.0	143.0					6																	76660739		2203	4300	6503	SO:0001583	missense	3617				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity	g.chr6:76660739C>T	AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.1364G>A	6.37:g.76660739C>T	ENSP00000358966:p.Ser455Asn					IMPG1_ENST00000369963.3_3'UTR	p.S455N	NM_001563.2	NP_001554.2	Q17R60	IMPG1_HUMAN			13	1553	-		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)	455						Missense_Mutation	SNP	ENST00000369950.3	37	c.1364G>A	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.298565	0.23650	.	.	ENSG00000112706	ENST00000369950	T	0.25414	1.8	5.74	5.74	0.90152	.	0.069758	0.64402	D	0.000011	T	0.20047	0.0482	L	0.59436	1.845	0.58432	D	0.999998	B	0.22604	0.072	B	0.28709	0.093	T	0.01977	-1.1236	10	0.54805	T	0.06	.	17.0903	0.86620	0.0:1.0:0.0:0.0	.	455	Q17R60	IMPG1_HUMAN	N	455	ENSP00000358966:S455N	ENSP00000358966:S455N	S	-	2	0	IMPG1	76717459	0.158000	0.22850	0.260000	0.24451	0.008000	0.06430	2.881000	0.48538	2.712000	0.92718	0.650000	0.86243	AGC		0.483	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563		3	63	0	0	0	1	0	3	63				
OPA1	4976	broad.mit.edu	37	3	193332788	193332788	+	Silent	SNP	C	C	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr3:193332788C>T	ENST00000392438.3	+	2	543	c.309C>T	c.(307-309)ctC>ctT	p.L103L	OPA1_ENST00000361715.2_Silent_p.L103L|OPA1_ENST00000361510.2_Silent_p.L103L|OPA1_ENST00000361150.2_Silent_p.L103L|OPA1_ENST00000487986.1_3'UTR|OPA1_ENST00000361908.3_Silent_p.L103L|OPA1_ENST00000361828.2_Silent_p.L103L	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	103					apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		TTCGCTATCTCATACTAGGAT	0.403																																						ENST00000361510.2																			0				breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(307-309)ctC>ctT		optic atrophy 1 (autosomal dominant)							53.0	55.0	54.0					3																	193332788		2203	4300	6503	SO:0001819	synonymous_variant	4976				apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding	g.chr3:193332788C>T	AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.309C>T	3.37:g.193332788C>T						OPA1_ENST00000487986.1_3'UTR|OPA1_ENST00000361828.2_Silent_p.L103L|OPA1_ENST00000392438.3_Silent_p.L103L|OPA1_ENST00000361908.3_Silent_p.L103L|OPA1_ENST00000361150.2_Silent_p.L103L|OPA1_ENST00000361715.2_Silent_p.L103L	p.L103L	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)	2	543	+	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		103					D3DNW4	Silent	SNP	ENST00000392438.3	37	c.309C>T	CCDS43186.1	.	.	.	.	.	.	.	.	.	.	C	4.487	0.090316	0.08632	.	.	ENSG00000198836	ENST00000434811	.	.	.	5.97	2.24	0.28232	.	.	.	.	.	T	0.58793	0.2147	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50890	-0.8774	4	.	.	.	-1.4062	9.7693	0.40580	0.0:0.5964:0.0:0.4036	.	.	.	.	L	3	.	.	S	+	2	0	OPA1	194815482	0.028000	0.19301	0.886000	0.34754	0.559000	0.35586	0.229000	0.17833	0.133000	0.18654	-0.136000	0.14681	TCA		0.403	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313812.2	NM_130837		5	60	0	0	0	1	0	5	60				
NCAN	1463	broad.mit.edu	37	19	19338463	19338463	+	Silent	SNP	T	T	C	rs576135458		TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr19:19338463T>C	ENST00000252575.6	+	8	2133	c.2034T>C	c.(2032-2034)taT>taC	p.Y678Y	NCAN_ENST00000538881.1_Silent_p.Y129Y	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	678					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	CCAAGGTGTATTCCCTGCCTC	0.617													T|||	1	0.000199681	0.0008	0.0	5008	,	,		18248	0.0		0.0	False		,,,				2504	0.0					ENST00000252575.5																			0				breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64						c.(2032-2034)taT>taC		neurocan							93.0	97.0	96.0					19																	19338463		2203	4300	6503	SO:0001819	synonymous_variant	1463				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding	g.chr19:19338463T>C	AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.2034T>C	19.37:g.19338463T>C						NCAN_ENST00000538881.1_Silent_p.Y129Y	p.Y678Y	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	Epithelial(12;0.00544)		8	2077	+			678					Q9UPK6	Silent	SNP	ENST00000252575.6	37	c.2034T>C	CCDS12397.1																																																																																				0.617	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460111.2	NM_004386		6	200	0	0	0	1	0	6	200				
PCDH15	65217	broad.mit.edu	37	10	55566503	55566503	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr10:55566503G>T	ENST00000373965.2	-	36	5285	c.4891C>A	c.(4891-4893)Cca>Aca	p.P1631T	PCDH15_ENST00000414778.1_Missense_Mutation_p.P1628T	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTCCTTAGTGGCTTCACCGCT	0.448										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(4891-4893)Cca>Aca		protocadherin-related 15							338.0	291.0	305.0					10																	55566503		1568	3582	5150	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55566503G>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000373965.2:c.4891C>A	10.37:g.55566503G>T	ENSP00000363076:p.Pro1631Thr	HNSCC(58;0.16)				PCDH15_ENST00000414778.1_Missense_Mutation_p.P1628T	p.P1631T	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			36	5285	-		Melanoma(3;0.117)|Lung SC(717;0.238)	0					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000373965.2	37	c.4891C>A		.	.	.	.	.	.	.	.	.	.	G	3.798	-0.042345	0.07452	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746	T;T	0.56611	0.45;0.49	6.02	-4.45	0.03546	.	.	.	.	.	T	0.34948	0.0915	L	0.33485	1.01	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.16453	-1.0402	9	0.31617	T	0.26	.	7.8866	0.29653	0.4063:0.0:0.4351:0.1586	.	1622;1628	C6ZEF7;C9J4F3	.;.	T	1631;1628;1624	ENSP00000363076:P1631T;ENSP00000410304:P1628T	ENSP00000363076:P1631T	P	-	1	0	PCDH15	55236509	0.005000	0.15991	0.000000	0.03702	0.003000	0.03518	-0.140000	0.10342	-1.298000	0.02348	-0.808000	0.03180	CCA		0.448	PCDH15-008	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000291336.1	NM_033056		87	196	1	0	2.18537e-64	1	2.56961e-64	87	196				
ZNF282	8427	broad.mit.edu	37	7	148921395	148921395	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr7:148921395C>T	ENST00000262085.3	+	8	1777	c.1672C>T	c.(1672-1674)Cac>Tac	p.H558Y	ZNF282_ENST00000479907.1_3'UTR	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	558					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CTTCAACTGCCACTCGGGCCT	0.632																																						ENST00000262085.3																			0				endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(1672-1674)Cac>Tac		zinc finger protein 282							28.0	30.0	30.0					7																	148921395		2202	4300	6502	SO:0001583	missense	8427				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148921395C>T	D30612	CCDS5895.1	7q36.1	2013-01-08			ENSG00000170265	ENSG00000170265		"""Zinc fingers, C2H2-type"", ""-"""	13076	protein-coding gene	gene with protein product		603397				9396811	Standard	NM_003575		Approved	HUB1	uc003wfm.3	Q9UDV7	OTTHUMG00000158974	ENST00000262085.3:c.1672C>T	7.37:g.148921395C>T	ENSP00000262085:p.His558Tyr					ZNF282_ENST00000479907.1_3'UTR	p.H558Y	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)	8	1777	+	Melanoma(164;0.15)		558					B4DRI5|O43691|Q6DKK0	Missense_Mutation	SNP	ENST00000262085.3	37	c.1672C>T	CCDS5895.1	.	.	.	.	.	.	.	.	.	.	C	15.96	2.987214	0.53934	.	.	ENSG00000170265	ENST00000430197;ENST00000262085	T	0.00995	5.46	4.15	4.15	0.48705	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.150963	0.32015	N	0.006718	T	0.00637	0.0021	N	0.12182	0.205	0.80722	D	1	P	0.39282	0.666	B	0.31016	0.123	T	0.76955	-0.2767	10	0.54805	T	0.06	-13.2242	9.2227	0.37386	0.2161:0.7839:0.0:0.0	.	558	Q9UDV7	ZN282_HUMAN	Y	211;558	ENSP00000262085:H558Y	ENSP00000262085:H558Y	H	+	1	0	ZNF282	148552328	0.000000	0.05858	1.000000	0.80357	0.943000	0.58893	0.242000	0.18087	2.147000	0.66899	0.462000	0.41574	CAC		0.632	ZNF282-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352746.1	NM_003575		6	29	0	0	0	1	0	6	29				
CACNA1C	775	broad.mit.edu	37	12	2764406	2764406	+	Splice_Site	SNP	T	T	G			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr12:2764406T>G	ENST00000347598.4	+	36	4376		c.e36+2		CACNA1C_ENST00000399601.1_Splice_Site|CACNA1C_ENST00000399606.1_Splice_Site|CACNA1C_ENST00000399591.1_Splice_Site|CACNA1C_ENST00000335762.5_Splice_Site|CACNA1C_ENST00000399595.1_Splice_Site|CACNA1C_ENST00000399617.1_Splice_Site|CACNA1C_ENST00000399637.1_Splice_Site|CACNA1C_ENST00000399597.1_Splice_Site|CACNA1C_ENST00000327702.7_Splice_Site|CACNA1C_ENST00000399641.1_Splice_Site|CACNA1C_ENST00000399655.1_Splice_Site|CACNA1C_ENST00000399644.1_Splice_Site|CACNA1C_ENST00000344100.3_Splice_Site|CACNA1C_ENST00000399621.1_Splice_Site|CACNA1C_ENST00000399603.1_Splice_Site|CACNA1C_ENST00000406454.3_Splice_Site|CACNA1C_ENST00000399638.1_Splice_Site|CACNA1C_ENST00000402845.3_Splice_Site|CACNA1C_ENST00000399629.1_Splice_Site|CACNA1C_ENST00000399634.1_Splice_Site|CACNA1C_ENST00000399649.1_Splice_Site	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit						adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CCTCTTCAGGTGGGTCCCTGA	0.537																																						ENST00000399655.1																			0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.e34+2		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						73.0	76.0	75.0					12																	2764406		2127	4266	6393	SO:0001630	splice_region_variant	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2764406T>G	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.4376+2T>G	12.37:g.2764406T>G						CACNA1C_ENST00000399649.1_Splice_Site|CACNA1C_ENST00000399641.1_Splice_Site|CACNA1C_ENST00000399644.1_Splice_Site|CACNA1C_ENST00000399595.1_Splice_Site|CACNA1C_ENST00000399638.1_Splice_Site|CACNA1C_ENST00000399603.1_Splice_Site|CACNA1C_ENST00000399601.1_Splice_Site|CACNA1C_ENST00000399591.1_Splice_Site|CACNA1C_ENST00000335762.5_Splice_Site|CACNA1C_ENST00000399617.1_Splice_Site|CACNA1C_ENST00000344100.3_Splice_Site|CACNA1C_ENST00000399637.1_Splice_Site|CACNA1C_ENST00000402845.3_Splice_Site|CACNA1C_ENST00000399629.1_Splice_Site|CACNA1C_ENST00000347598.4_Splice_Site|CACNA1C_ENST00000399621.1_Splice_Site|CACNA1C_ENST00000399634.1_Splice_Site|CACNA1C_ENST00000327702.7_Splice_Site|CACNA1C_ENST00000406454.3_Splice_Site|CACNA1C_ENST00000399597.1_Splice_Site|CACNA1C_ENST00000399606.1_Splice_Site		NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	34	4497	+								B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Splice_Site	SNP	ENST00000347598.4	37		CCDS44788.1	.	.	.	.	.	.	.	.	.	.	T	19.26	3.793218	0.70452	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	.	.	.	3.96	3.96	0.45880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3114	0.60382	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	CACNA1C	2634667	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.730000	0.84881	1.780000	0.52325	0.459000	0.35465	.		0.537	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719	Intron	2	13	0	0	0	1	0	2	13				
LANCL1	10314	broad.mit.edu	37	2	211336687	211336687	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr2:211336687C>T	ENST00000443314.1	-	2	537	c.195G>A	c.(193-195)tgG>tgA	p.W65*	AC007970.1_ENST00000416344.1_RNA|LANCL1_ENST00000233714.4_Nonsense_Mutation_p.W65*|LANCL1_ENST00000431941.2_Nonsense_Mutation_p.W65*|LANCL1_ENST00000441020.3_Nonsense_Mutation_p.W65*|LANCL1_ENST00000450366.2_Nonsense_Mutation_p.W65*			O43813	LANC1_HUMAN	LanC lantibiotic synthetase component C-like 1 (bacterial)	65					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|G-protein coupled receptor activity (GO:0004930)|glutathione binding (GO:0043295)|low-density lipoprotein particle receptor binding (GO:0050750)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		TCATACCTGCCCAGCCAGTGT	0.502																																						ENST00000443314.1																			0				breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						c.(193-195)tgG>tgA		LanC lantibiotic synthetase component C-like 1 (bacterial)							219.0	207.0	211.0					2																	211336687		2203	4300	6503	SO:0001587	stop_gained	10314					cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding	g.chr2:211336687C>T	Y11395	CCDS2392.1	2q33-q35	2008-05-23	2001-12-04		ENSG00000115365	ENSG00000115365			6508	protein-coding gene	gene with protein product		604155	"""LanC (bacterial lantibiotic synthetase component C)-like 1"""	GPR69A		9512664	Standard	NM_001136574		Approved	p40	uc010zjh.2	O43813	OTTHUMG00000132991	ENST00000443314.1:c.195G>A	2.37:g.211336687C>T	ENSP00000388713:p.Trp65*					LANCL1_ENST00000450366.2_Nonsense_Mutation_p.W65*|LANCL1_ENST00000441020.3_Nonsense_Mutation_p.W65*|LANCL1_ENST00000431941.2_Nonsense_Mutation_p.W65*|LANCL1_ENST00000233714.4_Nonsense_Mutation_p.W65*	p.W65*			O43813	LANC1_HUMAN		Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)	2	537	-			65						Nonsense_Mutation	SNP	ENST00000443314.1	37	c.195G>A	CCDS2392.1	.	.	.	.	.	.	.	.	.	.	C	34	5.291921	0.95546	.	.	ENSG00000115365	ENST00000443314;ENST00000441020;ENST00000450366;ENST00000233714;ENST00000431941;ENST00000448951	.	.	.	5.47	3.63	0.41609	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	9.2187	0.37364	0.1424:0.7833:0.0:0.0743	.	.	.	.	X	65	.	ENSP00000233714:W65X	W	-	3	0	LANCL1	211044932	1.000000	0.71417	0.966000	0.40874	0.994000	0.84299	5.684000	0.68197	1.273000	0.44346	0.650000	0.86243	TGG		0.502	LANCL1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336817.1	NM_006055		108	395	0	0	0	1	0	108	395				
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	lincRNA	SNP	A	A	G	rs374719458		TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373																																						ENST00000548109.1																			0																																																			0							g.chr14:19857036A>G																													14.37:g.19857036A>G														0	72	+									RNA	SNP	ENST00000548109.1	37																																																																																						0.373	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			3	133	0	0	0	1	0	3	133				
POLR3D	661	broad.mit.edu	37	8	22105704	22105704	+	Silent	SNP	A	A	G	rs200322424		TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr8:22105704A>G	ENST00000397802.4	+	4	614	c.399A>G	c.(397-399)ggA>ggG	p.G133G	POLR3D_ENST00000306433.4_Silent_p.G133G			P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide D, 44kDa	133					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		CAGACATGGGACCTTCTCATA	0.468																																						ENST00000397802.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13						c.(397-399)ggA>ggG		polymerase (RNA) III (DNA directed) polypeptide D, 44kDa							107.0	104.0	105.0					8																	22105704		2203	4300	6503	SO:0001819	synonymous_variant	661				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	g.chr8:22105704A>G	M17754	CCDS34858.1	8q21	2013-01-21	2003-04-01	2003-04-04	ENSG00000168495	ENSG00000168495		"""RNA polymerase subunits"""	1080	protein-coding gene	gene with protein product		187280	"""BN51 (BHK21) temperature sensitivity complementing"""	BN51T		12391170, 11279001	Standard	NM_001722		Approved	TSBN51, RPC4	uc003xbl.3	P05423	OTTHUMG00000163778	ENST00000397802.4:c.399A>G	8.37:g.22105704A>G						POLR3D_ENST00000306433.4_Silent_p.G133G	p.G133G			P05423	RPC4_HUMAN		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)	4	614	+			133					Q6FI28|Q9BPV7|Q9BPZ1|Q9BXB3	Silent	SNP	ENST00000397802.4	37	c.399A>G	CCDS34858.1																																																																																				0.468	POLR3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375434.2	NM_001722		7	34	0	0	0	1	0	7	34				
MGAM	8972	broad.mit.edu	37	7	141765240	141765240	+	Silent	SNP	A	A	G	rs201340059		TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr7:141765240A>G	ENST00000549489.2	+	38	4685	c.4590A>G	c.(4588-4590)gcA>gcG	p.A1530A	MGAM_ENST00000475668.2_Silent_p.A1530A	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1530	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACACGGCCGCATGGGATCAGC	0.612													N|||	1	0.000199681	0.0	0.0	5008	,	,		18970	0.0		0.0	False		,,,				2504	0.001					ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(4588-4590)gcA>gcG		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						57.0	64.0	62.0					7																	141765240		2034	4186	6220	SO:0001819	synonymous_variant	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141765240A>G	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4590A>G	7.37:g.141765240A>G						MGAM_ENST00000549489.2_Silent_p.A1530A	p.A1530A			O43451	MGA_HUMAN			38	4644	+	Melanoma(164;0.0272)		1530			Glucoamylase.		Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000549489.2	37	c.4590A>G	CCDS47727.1																																																																																				0.612	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			2	13	0	0	0	1	0	2	13				
PCDH11X	27328	broad.mit.edu	37	X	91132587	91132587	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chrX:91132587G>A	ENST00000373094.1	+	2	2193	c.1348G>A	c.(1348-1350)Gca>Aca	p.A450T	PCDH11X_ENST00000298274.8_Missense_Mutation_p.A450T|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A450T|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A450T|PCDH11X_ENST00000504220.2_Missense_Mutation_p.A450T|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A450T|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A450T|PCDH11X_ENST00000395337.2_Missense_Mutation_p.A450T|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A450T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	450	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GAATCAGTCAGCAATGCTCTT	0.418																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(1348-1350)Gca>Aca		protocadherin 11 X-linked							48.0	45.0	46.0					X																	91132587		2202	4280	6482	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91132587G>A	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.1348G>A	X.37:g.91132587G>A	ENSP00000362186:p.Ala450Thr					PCDH11X_ENST00000298274.8_Missense_Mutation_p.A450T|PCDH11X_ENST00000395337.2_Missense_Mutation_p.A450T|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A450T|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A450T|PCDH11X_ENST00000373097.1_Missense_Mutation_p.A450T|PCDH11X_ENST00000504220.1_Missense_Mutation_p.A450T|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A450T|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A450T	p.A450T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			2	2193	+			450			Cadherin 4.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.1348G>A	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	G	0.202	-1.043892	0.01997	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74	5.38	-2.21	0.06973	Cadherin (4);Cadherin-like (1);	0.295695	0.36167	N	0.002750	T	0.24314	0.0589	N	0.16233	0.39	0.39530	D	0.96864	B;B;B;B;B;B;B;B	0.26002	0.043;0.01;0.115;0.115;0.115;0.139;0.043;0.017	B;B;B;B;B;B;B;B	0.27262	0.047;0.023;0.047;0.047;0.047;0.078;0.026;0.026	T	0.03910	-1.0993	10	0.21540	T	0.41	.	7.7803	0.29062	0.234:0.0:0.5609:0.2051	.	450;450;450;450;450;450;450;450	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	T	450	ENSP00000378746:A450T;ENSP00000362186:A450T;ENSP00000362189:A450T;ENSP00000355040:A450T;ENSP00000362180:A450T;ENSP00000423762:A450T;ENSP00000355105:A450T;ENSP00000384758:A450T;ENSP00000298274:A450T	ENSP00000298274:A450T	A	+	1	0	PCDH11X	91019243	1.000000	0.71417	0.992000	0.48379	0.030000	0.12068	3.380000	0.52448	-0.105000	0.12132	-0.424000	0.05967	GCA		0.418	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		32	21	0	0	0	1	0	32	21				
PCLO	27445	broad.mit.edu	37	7	82545752	82545752	+	Silent	SNP	C	C	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr7:82545752C>T	ENST00000333891.9	-	7	11887	c.11550G>A	c.(11548-11550)caG>caA	p.Q3850Q	PCLO_ENST00000423517.2_Silent_p.Q3850Q|PCLO_ENST00000437081.1_Silent_p.Q570Q	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CAATGCCATGCTGACTTTCTA	0.473																																						ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(11548-11550)caG>caA		piccolo presynaptic cytomatrix protein							328.0	318.0	321.0					7																	82545752		2035	4191	6226	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82545752C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.11550G>A	7.37:g.82545752C>T						PCLO_ENST00000437081.1_Silent_p.Q570Q|PCLO_ENST00000333891.8_Silent_p.Q3850Q	p.Q3850Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			7	11887	-			3781			Gln-rich.			Silent	SNP	ENST00000333891.9	37	c.11550G>A	CCDS47630.1																																																																																				0.473	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		14	293	0	0	0	1	0	14	293				
TBC1D5	9779	broad.mit.edu	37	3	17413717	17413717	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr3:17413717G>T	ENST00000253692.7	-	13	2509	c.845C>A	c.(844-846)cCc>cAc	p.P282H	TBC1D5_ENST00000429924.2_Missense_Mutation_p.P234H|TBC1D5_ENST00000414318.2_Intron|TBC1D5_ENST00000446818.2_Missense_Mutation_p.P282H|TBC1D5_ENST00000429383.4_Missense_Mutation_p.P282H	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	282	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						AAAGGGAATGGGAGTCATCAG	0.328																																						ENST00000253692.7																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						c.(844-846)cCc>cAc		TBC1 domain family, member 5							158.0	149.0	152.0					3																	17413717		2203	4300	6503	SO:0001583	missense	9779					intracellular	protein binding|Rab GTPase activator activity	g.chr3:17413717G>T	D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.845C>A	3.37:g.17413717G>T	ENSP00000253692:p.Pro282His					TBC1D5_ENST00000446818.2_Missense_Mutation_p.P282H|TBC1D5_ENST00000414318.2_Intron|TBC1D5_ENST00000429383.4_Missense_Mutation_p.P282H|TBC1D5_ENST00000429924.2_Missense_Mutation_p.P234H	p.P282H	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN			13	2509	-			282			Rab-GAP TBC.		A6NP25|C9JP52	Missense_Mutation	SNP	ENST00000253692.7	37	c.845C>A	CCDS33714.1	.	.	.	.	.	.	.	.	.	.	G	16.52	3.147081	0.57151	.	.	ENSG00000131374	ENST00000253692;ENST00000429383;ENST00000446818;ENST00000429924	T;T;T;T	0.46451	1.46;1.46;1.45;0.87	5.79	5.79	0.91817	Rab-GAP/TBC domain (4);	0.092099	0.85682	D	0.000000	T	0.54806	0.1881	L	0.39514	1.22	0.47374	D	0.9994	P;P;D	0.55385	0.944;0.951;0.971	P;P;P	0.59115	0.852;0.852;0.852	T	0.50591	-0.8810	10	0.51188	T	0.08	-15.0953	20.0332	0.97547	0.0:0.0:1.0:0.0	.	234;282;282	C9J3F6;C9JP52;Q92609	.;.;TBCD5_HUMAN	H	282;282;282;234	ENSP00000253692:P282H;ENSP00000398127:P282H;ENSP00000402935:P282H;ENSP00000411925:P234H	ENSP00000253692:P282H	P	-	2	0	TBC1D5	17388721	1.000000	0.71417	0.985000	0.45067	0.957000	0.61999	4.794000	0.62482	2.749000	0.94314	0.491000	0.48974	CCC		0.328	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340301.3	NM_014744		3	70	1	0	1	1	1	3	70				
OBSCN	84033	broad.mit.edu	37	1	228444583	228444583	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr1:228444583G>A	ENST00000422127.1	+	15	4585	c.4541G>A	c.(4540-4542)tGc>tAc	p.C1514Y	OBSCN_ENST00000570156.2_Missense_Mutation_p.C1606Y|OBSCN_ENST00000359599.6_Missense_Mutation_p.C78Y|OBSCN_ENST00000284548.11_Missense_Mutation_p.C1514Y|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1514	Ig-like 15.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GAGTACAGCTGCGAGGCGGGG	0.647																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(4816-4818)tGc>tAc		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							39.0	47.0	45.0					1																	228444583		2048	4178	6226	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228444583G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.4541G>A	1.37:g.228444583G>A	ENSP00000409493:p.Cys1514Tyr					OBSCN_ENST00000284548.11_Missense_Mutation_p.C1514Y|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.C78Y|OBSCN_ENST00000422127.1_Missense_Mutation_p.C1514Y	p.C1606Y	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			16	4891	+		Prostate(94;0.0405)	587			Ig-like 16.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.4817G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	.	15.80	2.939445	0.52972	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599	T;T;T	0.74842	2.15;2.15;-0.88	4.6	4.6	0.57074	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.89019	0.6596	M	0.91717	3.235	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.998;0.999	D	0.91523	0.5236	10	0.59425	D	0.04	.	17.3927	0.87436	0.0:0.0:1.0:0.0	.	1514;1514	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	Y	1514;1514;78	ENSP00000284548:C1514Y;ENSP00000409493:C1514Y;ENSP00000352613:C78Y	ENSP00000284548:C1514Y	C	+	2	0	OBSCN	226511206	1.000000	0.71417	0.994000	0.49952	0.061000	0.15899	8.817000	0.91985	2.099000	0.63709	0.491000	0.48974	TGC		0.647	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		15	39	0	0	0	1	0	15	39				
FOXA1	3169	broad.mit.edu	37	14	38061243	38061243	+	Missense_Mutation	SNP	T	T	A			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr14:38061243T>A	ENST00000250448.2	-	2	807	c.746A>T	c.(745-747)gAc>gTc	p.D249V	FOXA1_ENST00000540786.1_Missense_Mutation_p.D216V|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	249					anatomical structure formation involved in morphogenesis (GO:0048646)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|epithelial cell maturation involved in prostate gland development (GO:0060743)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|epithelial-mesenchymal signaling involved in prostate gland development (GO:0060738)|glucose homeostasis (GO:0042593)|hormone metabolic process (GO:0042445)|lung epithelial cell differentiation (GO:0060487)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prostate gland epithelium morphogenesis (GO:0060740)|prostate gland stromal morphogenesis (GO:0060741)|response to estradiol (GO:0032355)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)	microvillus (GO:0005902)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		GTTGCCGGAGTCCGGGTGCAG	0.667																																						ENST00000250448.2																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19						c.(745-747)gAc>gTc		forkhead box A1							29.0	29.0	29.0					14																	38061243		2203	4300	6503	SO:0001583	missense	3169				chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|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.chr14:38061243T>A	U39840	CCDS9665.1	14q12-q13	2008-04-10		2002-09-20	ENSG00000129514	ENSG00000129514		"""Forkhead boxes"""	5021	protein-coding gene	gene with protein product		602294	"""hepatocyte nuclear factor 3, alpha"""	HNF3A		9119385, 8652662	Standard	NM_004496		Approved		uc001wuf.4	P55317	OTTHUMG00000140253	ENST00000250448.2:c.746A>T	14.37:g.38061243T>A	ENSP00000250448:p.Asp249Val					FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.D216V	p.D249V	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)	2	807	-	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		249					B2R9H6|B7ZAP5|Q9H2A0	Missense_Mutation	SNP	ENST00000250448.2	37	c.746A>T	CCDS9665.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.233975	0.79688	.	.	ENSG00000129514	ENST00000250448;ENST00000540786	D;D	0.95690	-3.78;-3.78	4.0	4.0	0.46444	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	0.000000	0.85682	D	0.000000	D	0.96978	0.9013	M	0.75150	2.29	0.80722	D	1	D	0.71674	0.998	D	0.70227	0.968	D	0.97258	0.9902	10	0.87932	D	0	.	12.0003	0.53226	0.0:0.0:0.0:1.0	.	249	P55317	FOXA1_HUMAN	V	249;216	ENSP00000250448:D249V;ENSP00000440178:D216V	ENSP00000250448:D249V	D	-	2	0	FOXA1	37130994	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.870000	0.63035	1.671000	0.50874	0.329000	0.21502	GAC		0.667	FOXA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276735.1			13	21	0	0	0	1	0	13	21				
CAMTA2	23125	broad.mit.edu	37	17	4884982	4884982	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr17:4884982T>G	ENST00000348066.3	-	7	679	c.556A>C	c.(556-558)Aag>Cag	p.K186Q	CAMTA2_ENST00000358183.4_Missense_Mutation_p.K186Q|CAMTA2_ENST00000361571.5_Missense_Mutation_p.K185Q|CAMTA2_ENST00000414043.3_Missense_Mutation_p.K209Q|CAMTA2_ENST00000572543.1_Missense_Mutation_p.K191Q|CAMTA2_ENST00000571831.1_5'Flank|CAMTA2_ENST00000381311.5_Missense_Mutation_p.K188Q	NM_015099.3	NP_055914.2	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	186					cardiac muscle hypertrophy in response to stress (GO:0014898)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CACATGGGCTTCAGCTGTCCC	0.602																																						ENST00000361571.5																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						c.(553-555)Aag>Cag		calmodulin binding transcription activator 2							60.0	58.0	59.0					17																	4884982		2203	4300	6503	SO:0001583	missense	23125				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding	g.chr17:4884982T>G	AB020716	CCDS11063.1, CCDS54071.1, CCDS54072.1, CCDS54073.1	17p13.3	2004-09-01			ENSG00000108509	ENSG00000108509			18807	protein-coding gene	gene with protein product		611508				11925432	Standard	NM_015099		Approved	KIAA0909	uc010cku.2	O94983	OTTHUMG00000099417	ENST00000348066.3:c.556A>C	17.37:g.4884982T>G	ENSP00000321813:p.Lys186Gln					CAMTA2_ENST00000381311.5_Missense_Mutation_p.K188Q|CAMTA2_ENST00000358183.4_Missense_Mutation_p.K186Q|CAMTA2_ENST00000348066.3_Missense_Mutation_p.K186Q|CAMTA2_ENST00000414043.3_Missense_Mutation_p.K209Q|CAMTA2_ENST00000572543.1_Missense_Mutation_p.K191Q	p.K185Q	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN			6	964	-			186					B9EGL0|D3DTL5|E7EWU5|Q7Z6M8|Q8N3V0|Q8NDG4|Q96G17	Missense_Mutation	SNP	ENST00000348066.3	37	c.553A>C	CCDS11063.1	.	.	.	.	.	.	.	.	.	.	T	17.89	3.498721	0.64298	.	.	ENSG00000108509	ENST00000414043;ENST00000381311;ENST00000361571;ENST00000358183;ENST00000348066	T;T;T;T;T	0.47177	2.32;1.37;0.85;1.35;1.12	5.22	5.22	0.72569	.	0.112351	0.64402	D	0.000018	T	0.44371	0.1290	L	0.29908	0.895	0.36978	D	0.894138	P;P;P;P	0.45283	0.774;0.76;0.611;0.855	B;P;B;P	0.47299	0.341;0.543;0.221;0.543	T	0.56505	-0.7968	10	0.87932	D	0	-15.6391	13.1065	0.59249	0.0:0.0:0.0:1.0	.	209;188;186;185	E7EWU5;O94983-3;O94983;O94983-4	.;.;CMTA2_HUMAN;.	Q	209;188;185;186;186	ENSP00000412886:K209Q;ENSP00000370712:K188Q;ENSP00000354828:K185Q;ENSP00000350910:K186Q;ENSP00000321813:K186Q	ENSP00000321813:K186Q	K	-	1	0	CAMTA2	4825706	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.783000	0.68982	2.192000	0.70111	0.459000	0.35465	AAG		0.602	CAMTA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216876.1	NM_015099		3	70	0	0	0	1	0	3	70				
UGT1A7	54577	broad.mit.edu	37	2	234591302	234591302	+	Missense_Mutation	SNP	C	C	T	rs371311391		TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr2:234591302C>T	ENST00000373426.3	+	1	719	c.719C>T	c.(718-720)aCg>aTg	p.T240M	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron	NM_019077.2	NP_061950.2	Q9HAW7	UD17_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A7	240					cellular glucuronidation (GO:0052695)|coumarin metabolic process (GO:0009804)|drug metabolic process (GO:0017144)|excretion (GO:0007588)|flavone metabolic process (GO:0051552)|flavonoid glucuronidation (GO:0052696)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cellular glucuronidation (GO:2001030)|negative regulation of fatty acid metabolic process (GO:0045922)|retinoic acid metabolic process (GO:0042573)|xenobiotic glucuronidation (GO:0052697)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	drug binding (GO:0008144)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|retinoic acid binding (GO:0001972)			NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)	ACCCCTGTCACGGCATATGAT	0.408																																						ENST00000373426.3																			0				NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33						c.(718-720)aCg>aTg				C	,,MET/THR,	0,4406		0,0,2203	200.0	211.0	208.0		,,719,	1.1	0.0	2		208	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,missense,intron	UGT1A10,UGT1A8,UGT1A7,UGT1A9	NM_019075.2,NM_019076.4,NM_019077.2,NM_021027.2	,,81,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	,,240/531,	234591302	1,13005	2203	4300	6503	SO:0001583	missense	0							g.chr2:234591302C>T	U39570	CCDS2506.1	2q37	2010-03-05	2005-07-20		ENSG00000244122	ENSG00000244122		"""UDP glucuronosyltransferases"""	12539	other	complex locus constituent		606432	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 11434514	Standard	NM_019077		Approved	UGT1G		Q9HAW7	OTTHUMG00000059004	ENST00000373426.3:c.719C>T	2.37:g.234591302C>T	ENSP00000362525:p.Thr240Met					UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron	p.T240M	NM_019077.2	NP_061950.2				Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)	1	719	+		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)						B8K293|O00473	Missense_Mutation	SNP	ENST00000373426.3	37	c.719C>T	CCDS2506.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.81|15.81	2.944214|2.944214	0.53079|0.53079	0.0|0.0	1.16E-4|1.16E-4	ENSG00000244122|ENSG00000244122	ENST00000485022|ENST00000373426	.|T	.|0.07216	.|3.21	4.16|4.16	1.09|1.09	0.20402|0.20402	.|.	.|.	.|.	.|.	.|.	T|T	0.35799|0.35799	0.0944|0.0944	H|H	0.95437|0.95437	3.67|3.67	0.09310|0.09310	N|N	0.999997|0.999997	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.70487	.|0.969;0.969	T|T	0.11518|0.11518	-1.0584|-1.0584	5|9	.|0.87932	.|D	.|0	.|.	9.2286|9.2286	0.37423|0.37423	0.0:0.6491:0.2727:0.0782|0.0:0.6491:0.2727:0.0782	.|.	.|240;240	.|Q5DSZ7;Q9HAW7	.|.;UD17_HUMAN	W|M	97|240	.|ENSP00000362525:T240M	.|ENSP00000362525:T240M	R|T	+|+	1|2	2|0	UGT1A7|UGT1A7	234256041|234256041	0.072000|0.072000	0.21174|0.21174	0.045000|0.045000	0.18777|0.18777	0.128000|0.128000	0.20619|0.20619	1.531000|1.531000	0.36018|0.36018	0.393000|0.393000	0.25203|0.25203	0.485000|0.485000	0.47835|0.47835	CGG|ACG		0.408	UGT1A7-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000130614.1	NM_019077		28	514	0	0	0	1	0	28	514				
ABR	29	broad.mit.edu	37	17	1028558	1028558	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr17:1028558T>C	ENST00000302538.5	-	2	352	c.206A>G	c.(205-207)gAt>gGt	p.D69G	ABR_ENST00000544583.2_Missense_Mutation_p.D23G|ABR_ENST00000574437.1_Missense_Mutation_p.D23G	NM_001282149.1|NM_021962.3	NP_001269078.1|NP_068781.2	Q12979	ABR_HUMAN	active BCR-related	69					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phagocytosis (GO:0050766)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		GGAGACGCCATCCCCCCCGCC	0.677																																					Esophageal Squamous(197;2016 2115 4129 29033 46447)	ENST00000544583.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(67-69)gAt>gGt		active BCR-related							66.0	66.0	66.0					17																	1028558		2202	4300	6502	SO:0001583	missense	29				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr17:1028558T>C	L19704	CCDS10999.1, CCDS11000.1, CCDS54060.1, CCDS58497.1, CCDS73936.1	17p13	2013-01-10	2012-02-27		ENSG00000159842	ENSG00000159842		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	81	protein-coding gene	gene with protein product		600365	"""active BCR-related gene"""			2587217, 7479768	Standard	NM_001092		Approved	MDB	uc002fsd.4	Q12979	OTTHUMG00000090313	ENST00000302538.5:c.206A>G	17.37:g.1028558T>C	ENSP00000303909:p.Asp69Gly					ABR_ENST00000302538.5_Missense_Mutation_p.D69G|ABR_ENST00000574437.1_Missense_Mutation_p.D23G	p.D23G	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)	2	667	-			69					B3KW89|B7Z6H7|D3DTH3|D3DTH4|F5H3S2|F5H8B3|Q13693|Q13694	Missense_Mutation	SNP	ENST00000302538.5	37	c.68A>G	CCDS10999.1	.	.	.	.	.	.	.	.	.	.	T	11.93	1.786281	0.31593	.	.	ENSG00000159842	ENST00000302538;ENST00000544583	T;T	0.20200	2.09;2.09	5.49	5.49	0.81192	Dbl homology (DH) domain (1);	0.275585	0.40064	N	0.001193	T	0.23289	0.0563	L	0.52573	1.65	0.80722	D	1	P;B	0.44877	0.845;0.0	B;B	0.41374	0.355;0.0	T	0.02037	-1.1225	10	0.66056	D	0.02	.	13.5548	0.61754	0.0:0.0:0.0:1.0	.	23;69	B3KW89;Q12979	.;ABR_HUMAN	G	69;23	ENSP00000303909:D69G;ENSP00000442048:D23G	ENSP00000303909:D69G	D	-	2	0	ABR	975308	1.000000	0.71417	0.740000	0.30986	0.003000	0.03518	5.253000	0.65452	2.085000	0.62840	0.533000	0.62120	GAT		0.677	ABR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206675.4			3	85	0	0	0	1	0	3	85				
CHRAC1	54108	broad.mit.edu	37	8	141525311	141525311	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr8:141525311G>C	ENST00000220913.5	+	3	563	c.361G>C	c.(361-363)Gat>Cat	p.D121H	CHRAC1_ENST00000519533.1_3'UTR	NM_017444.5	NP_059140.1	Q9NRG0	CHRC1_HUMAN	chromatin accessibility complex 1	121					chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)	CHRAC (GO:0008623)|epsilon DNA polymerase complex (GO:0008622)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|sequence-specific DNA binding (GO:0043565)			ovary(2)	2	all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.107)			GAATGACAATGATAATGAAAG	0.383																																						ENST00000220913.5																			0				ovary(2)	2						c.(361-363)Gat>Cat		chromatin accessibility complex 1							117.0	112.0	114.0					8																	141525311		2203	4300	6503	SO:0001583	missense	54108				chromatin remodeling	chromatin accessibility complex|epsilon DNA polymerase complex	DNA-directed DNA polymerase activity|sequence-specific DNA binding	g.chr8:141525311G>C	AF226076	CCDS6379.1	8q24.3	2008-08-07				ENSG00000104472			13544	protein-coding gene	gene with protein product	"""histone-fold protein CHRAC15"""	607268				10880450, 11000277	Standard	NM_017444		Approved	CHRAC15, YCL1	uc003yvl.3	Q9NRG0		ENST00000220913.5:c.361G>C	8.37:g.141525311G>C	ENSP00000220913:p.Asp121His					CHRAC1_ENST00000519533.1_3'UTR	p.D121H	NM_017444.5	NP_059140.1	Q9NRG0	CHRC1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.107)		3	563	+	all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)		121						Missense_Mutation	SNP	ENST00000220913.5	37	c.361G>C	CCDS6379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.66|12.66	2.004967|2.004967	0.35415|0.35415	.|.	.|.	ENSG00000104472|ENSG00000104472	ENST00000220913|ENST00000519618	T|.	0.34859|.	1.34|.	4.16|4.16	-0.753|-0.753	0.11068|0.11068	.|.	0.533626|.	0.16770|.	N|.	0.200249|.	T|T	0.24699|0.24699	0.0599|0.0599	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	0.999998|0.999998	B|.	0.34015|.	0.435|.	B|.	0.29440|.	0.102|.	T|T	0.21518|0.21518	-1.0243|-1.0243	10|5	0.45353|.	T|.	0.12|.	-1.5442|-1.5442	14.751|14.751	0.69525|0.69525	0.1142:0.0:0.8858:0.0|0.1142:0.0:0.8858:0.0	.|.	121|.	Q9NRG0|.	CHRC1_HUMAN|.	H|I	121|86	ENSP00000220913:D121H|.	ENSP00000220913:D121H|.	D|M	+|+	1|3	0|0	CHRAC1|CHRAC1	141594493|141594493	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.248000|0.248000	0.25809|0.25809	0.681000|0.681000	0.25320|0.25320	-0.048000|-0.048000	0.13401|0.13401	0.563000|0.563000	0.77884|0.77884	GAT|ATG		0.383	CHRAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377816.1	NM_017444		7	67	0	0	0	1	0	7	67				
SCAF8	22828	broad.mit.edu	37	6	155131226	155131226	+	Nonsense_Mutation	SNP	C	C	G			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr6:155131226C>G	ENST00000367178.3	+	12	1880	c.1304C>G	c.(1303-1305)tCa>tGa	p.S435*	SCAF8_ENST00000367186.4_Nonsense_Mutation_p.S501*|SCAF8_ENST00000417268.1_Nonsense_Mutation_p.S435*	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	435	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CGCTCCCGCTCAAGAGAAAGA	0.423																																						ENST00000367178.3																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						c.(1303-1305)tCa>tGa		SR-related CTD-associated factor 8							149.0	149.0	149.0					6																	155131226		2203	4300	6503	SO:0001587	stop_gained	22828				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding	g.chr6:155131226C>G	AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.1304C>G	6.37:g.155131226C>G	ENSP00000356146:p.Ser435*					SCAF8_ENST00000417268.1_Nonsense_Mutation_p.S435*|SCAF8_ENST00000367186.4_Nonsense_Mutation_p.S501*	p.S435*	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN			12	1880	+			435			Arg-rich.		B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Nonsense_Mutation	SNP	ENST00000367178.3	37	c.1304C>G	CCDS5247.1	.	.	.	.	.	.	.	.	.	.	C	39	7.542895	0.98348	.	.	ENSG00000213079	ENST00000367178;ENST00000417268;ENST00000367186	.	.	.	5.88	5.88	0.94601	.	0.000000	0.64402	U	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.2381	0.98363	0.0:1.0:0.0:0.0	.	.	.	.	X	435;435;501	.	ENSP00000356146:S435X	S	+	2	0	SCAF8	155172918	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.779000	0.95612	0.650000	0.86243	TCA		0.423	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1	NM_014892		8	89	0	0	0	1	0	8	89				
AGXT	189	broad.mit.edu	37	2	241814527	241814527	+	Splice_Site	SNP	A	A	C			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr2:241814527A>C	ENST00000307503.3	+	7	1069	c.682A>C	c.(682-684)Aag>Cag	p.K228Q		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	228					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process (GO:0042853)|L-cysteine catabolic process (GO:0019448)|oxalic acid secretion (GO:0046724)|pyruvate biosynthetic process (GO:0042866)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	alanine-glyoxylate transaminase activity (GO:0008453)|amino acid binding (GO:0016597)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)|receptor binding (GO:0005102)|serine-pyruvate transaminase activity (GO:0004760)|transaminase activity (GO:0008483)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)	TCTCCCCAGAAAGAAGATGTA	0.587																																						ENST00000307503.3																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18						c.e7-1		alanine-glyoxylate aminotransferase	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)						75.0	70.0	71.0					2																	241814527		2203	4300	6503	SO:0001630	splice_region_variant	189				glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity	g.chr2:241814527A>C	D13368	CCDS2543.1	2q37.3	2008-02-05	2007-04-13		ENSG00000172482	ENSG00000172482	2.6.1.44, 2.6.1.51		341	protein-coding gene	gene with protein product	"""oxalosis I"", ""primary hyperoxaluria type 1"", ""L-alanine: glyoxylate aminotransferase 1"", ""serine:pyruvate aminotransferase"", ""glycolicaciduria"""	604285		SPAT		2039493, 2045108	Standard	NM_000030		Approved	AGXT1, PH1, AGT, SPT, AGT1	uc002waa.4	P21549	OTTHUMG00000133354	ENST00000307503.3:c.681-1A>C	2.37:g.241814527A>C							p.K228_splice	NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	7	1069	+		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	228					Q53QU6	Splice_Site	SNP	ENST00000307503.3	37	c.680_splice	CCDS2543.1	.	.	.	.	.	.	.	.	.	.	a	7.916	0.737472	0.15574	.	.	ENSG00000172482	ENST00000307503	D	0.93426	-3.22	3.79	1.26	0.21427	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);Aminotransferase, class V/Cysteine desulfurase (1);	0.697693	0.14663	N	0.305811	D	0.86167	0.5868	L	0.31371	0.925	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.74206	-0.3740	10	0.42905	T	0.14	-0.2911	5.4135	0.16360	0.6491:0.1722:0.0:0.1787	.	228	P21549	SPYA_HUMAN	Q	228	ENSP00000302620:K228Q	ENSP00000302620:K228Q	K	+	1	0	AGXT	241463200	0.001000	0.12720	0.002000	0.10522	0.027000	0.11550	0.700000	0.25601	-0.032000	0.13758	0.520000	0.50463	AAG		0.587	AGXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257186.1	NM_000030	Missense_Mutation	16	37	0	0	0	1	0	16	37				
SYNE2	23224	broad.mit.edu	37	14	64532245	64532245	+	Silent	SNP	C	C	G			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr14:64532245C>G	ENST00000344113.4	+	51	10520	c.10308C>G	c.(10306-10308)ggC>ggG	p.G3436G	SYNE2_ENST00000554584.1_Silent_p.G3469G|SYNE2_ENST00000555002.1_Silent_p.G70G|SYNE2_ENST00000358025.3_Silent_p.G3436G|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3436					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAAATGATGGCATATGTTTGC	0.443																																						ENST00000358025.3																			0				NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(10306-10308)ggC>ggG		spectrin repeat containing, nuclear envelope 2							168.0	160.0	163.0					14																	64532245		1949	4152	6101	SO:0001819	synonymous_variant	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64532245C>G	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.10308C>G	14.37:g.64532245C>G						SYNE2_ENST00000554584.1_Silent_p.G3469G|SYNE2_ENST00000555002.1_Silent_p.G70G|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Silent_p.G3436G	p.G3436G	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	51	10538	+			3436					Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	c.10308C>G	CCDS41963.1																																																																																				0.443	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		5	51	0	0	0	1	0	5	51				
MEPCE	56257	broad.mit.edu	37	7	100028454	100028454	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr7:100028454G>C	ENST00000310512.2	+	1	1201	c.813G>C	c.(811-813)caG>caC	p.Q271H	MEPCE_ENST00000414441.1_5'UTR|ZCWPW1_ENST00000324725.6_5'Flank|ZCWPW1_ENST00000360951.4_5'Flank|ZCWPW1_ENST00000398027.2_5'Flank	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	271					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA methylation (GO:0001510)|snRNA metabolic process (GO:0016073)|snRNA modification (GO:0040031)		poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGCACCACCAGCAGCAGCAGG	0.647																																						ENST00000310512.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24						c.(811-813)caG>caC		methylphosphate capping enzyme							99.0	109.0	105.0					7																	100028454		2203	4300	6503	SO:0001583	missense	56257						methyltransferase activity	g.chr7:100028454G>C	AF264752	CCDS5693.1, CCDS55136.1	7q22.1	2008-02-04	2007-07-26	2007-07-26	ENSG00000146834	ENSG00000146834			20247	protein-coding gene	gene with protein product		611478	"""bin3, bicoid-interacting 3, homolog (Drosophila)"""	BCDIN3		12358911, 17643375	Standard	NM_019606		Approved	FLJ20257, MePCE	uc003uuw.3	Q7L2J0	OTTHUMG00000155255	ENST00000310512.2:c.813G>C	7.37:g.100028454G>C	ENSP00000308546:p.Gln271His					MEPCE_ENST00000414441.1_5'UTR	p.Q271H	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN			1	1201	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		271					B3KP86|D6W5V7|Q9NPD4	Missense_Mutation	SNP	ENST00000310512.2	37	c.813G>C	CCDS5693.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.840902	0.51057	.	.	ENSG00000146834	ENST00000310512	.	.	.	4.62	2.81	0.32909	.	0.175162	0.36703	N	0.002459	T	0.22820	0.0551	N	0.22421	0.69	0.30375	N	0.782541	B	0.21225	0.053	B	0.14023	0.01	T	0.11470	-1.0586	9	0.24483	T	0.36	-0.6486	4.5225	0.11966	0.2002:0.1847:0.6151:0.0	.	271	Q7L2J0	MEPCE_HUMAN	H	271	.	ENSP00000308546:Q271H	Q	+	3	2	MEPCE	99866390	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.904000	0.48719	0.565000	0.29255	0.462000	0.41574	CAG		0.647	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339135.1			5	228	0	0	0	1	0	5	228				
DDI1	414301	broad.mit.edu	37	11	103907873	103907873	+	Missense_Mutation	SNP	G	G	A	rs138983347		TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr11:103907873G>A	ENST00000302259.3	+	1	566	c.323G>A	c.(322-324)cGt>cAt	p.R108H	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	108							aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		TCCAGCTCCCGTCCACAGCAC	0.672																																						ENST00000302259.3																			0				central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(322-324)cGt>cAt		DNA-damage inducible 1 homolog 1 (S. cerevisiae)		G	HIS/ARG,,	1,4403	2.1+/-5.4	0,1,2201	89.0	89.0	89.0		323,,	3.2	0.2	11	dbSNP_134	89	1,8597	1.2+/-3.3	0,1,4298	no	missense,intron,intron	PDGFD,DDI1	NM_001001711.2,NM_025208.4,NM_033135.3	29,,	0,2,6499	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging,,	108/397,,	103907873	2,13000	2202	4299	6501	SO:0001583	missense	414301				proteolysis		aspartic-type endopeptidase activity	g.chr11:103907873G>A		CCDS31660.1	11q22.3	2010-05-04	2010-05-04			ENSG00000170967			18961	protein-coding gene	gene with protein product			"""DDI1, DNA-damage inducible 1, homolog 1 (S. cerevisiae)"""				Standard	NM_001001711		Approved	FLJ36017	uc001phr.2	Q8WTU0		ENST00000302259.3:c.323G>A	11.37:g.103907873G>A	ENSP00000302805:p.Arg108His					PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	p.R108H	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)	1	566	+		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)	108					Q7Z4U6|Q8WTS3	Missense_Mutation	SNP	ENST00000302259.3	37	c.323G>A	CCDS31660.1	.	.	.	.	.	.	.	.	.	.	G	14.39	2.521366	0.44866	2.27E-4	1.16E-4	ENSG00000170967	ENST00000302259	T	0.24908	1.83	5.02	3.16	0.36331	.	0.791492	0.11533	N	0.554491	T	0.26557	0.0649	M	0.65975	2.015	0.09310	N	1	D	0.60160	0.987	B	0.39660	0.306	T	0.14420	-1.0473	10	0.52906	T	0.07	-9.7142	9.7218	0.40308	0.1699:0.0:0.8301:0.0	.	108	Q8WTU0	DDI1_HUMAN	H	108	ENSP00000302805:R108H	ENSP00000302805:R108H	R	+	2	0	DDI1	103413083	0.319000	0.24607	0.156000	0.22583	0.007000	0.05969	1.378000	0.34328	0.836000	0.34901	-0.150000	0.13652	CGT		0.672	DDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387326.1	NM_001001711		31	67	0	0	0	1	0	31	67				
GDAP1	54332	broad.mit.edu	37	8	75276269	75276269	+	Silent	SNP	C	C	T	rs370099528		TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr8:75276269C>T	ENST00000220822.7	+	6	824	c.744C>T	c.(742-744)gaC>gaT	p.D248D	GDAP1_ENST00000434412.2_Silent_p.D180D|GDAP1_ENST00000521096.1_3'UTR	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	ganglioside induced differentiation associated protein 1	248	GST C-terminal.				cell death (GO:0008219)|mitochondrial fission (GO:0000266)|protein targeting to mitochondrion (GO:0006626)|response to retinoic acid (GO:0032526)	integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			CCCTGGCAGACGTCTCACTCG	0.502																																						ENST00000220822.7																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(742-744)gaC>gaT		ganglioside induced differentiation associated protein 1		C	,	0,4406		0,0,2203	66.0	64.0	64.0		540,744	1.9	1.0	8		64	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	GDAP1	NM_001040875.1,NM_018972.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	180/291,248/359	75276269	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54332					cytoplasm		g.chr8:75276269C>T		CCDS34911.1, CCDS47877.1	8q13.3	2014-09-17	2012-02-09						15968	protein-coding gene	gene with protein product		606598	"""Charcot-Marie-Tooth neuropathy 4A"""	CMT4A		8268915, 11743579	Standard	NM_018972		Approved	CMT4	uc003yah.3	Q8TB36		ENST00000220822.7:c.744C>T	8.37:g.75276269C>T						GDAP1_ENST00000521096.1_3'UTR|GDAP1_ENST00000434412.2_Silent_p.D180D	p.D248D	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)		6	824	+	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	248			GST C-terminal.		A8K957|E7FJF3|E7FJF4	Silent	SNP	ENST00000220822.7	37	c.744C>T	CCDS34911.1																																																																																				0.502	GDAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379061.1	NM_018972		4	38	0	0	0	1	0	4	38				
FAM83B	222584	broad.mit.edu	37	6	54805205	54805205	+	Missense_Mutation	SNP	A	A	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr6:54805205A>T	ENST00000306858.7	+	5	1552	c.1436A>T	c.(1435-1437)cAa>cTa	p.Q479L	RP3-523K23.2_ENST00000562834.1_RNA	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	479										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTTTTGCAACAACGAATGCCA	0.403																																						ENST00000306858.7																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71						c.(1435-1437)cAa>cTa		family with sequence similarity 83, member B							89.0	89.0	89.0					6																	54805205		2203	4300	6503	SO:0001583	missense	222584							g.chr6:54805205A>T	AK055204	CCDS34479.1	6p12.1	2014-03-13	2006-03-23	2006-03-23	ENSG00000168143	ENSG00000168143			21357	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 143"""	C6orf143		22886302	Standard	NM_001010872		Approved	FLJ30642	uc003pck.4	Q5T0W9	OTTHUMG00000014899	ENST00000306858.7:c.1436A>T	6.37:g.54805205A>T	ENSP00000304078:p.Gln479Leu						p.Q479L	NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN			5	1552	+	Lung NSC(77;0.0178)|Renal(3;0.122)		479					Q2M1P3|Q96DQ2	Missense_Mutation	SNP	ENST00000306858.7	37	c.1436A>T	CCDS34479.1	.	.	.	.	.	.	.	.	.	.	A	19.75	3.886583	0.72410	.	.	ENSG00000168143	ENST00000306858	T	0.37058	1.22	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.30479	0.0766	L	0.29908	0.895	0.58432	D	0.999998	D	0.59767	0.986	P	0.53266	0.722	T	0.13683	-1.0500	10	0.87932	D	0	-17.3867	16.0092	0.80385	1.0:0.0:0.0:0.0	.	479	Q5T0W9	FA83B_HUMAN	L	479	ENSP00000304078:Q479L	ENSP00000304078:Q479L	Q	+	2	0	FAM83B	54913164	1.000000	0.71417	0.990000	0.47175	0.935000	0.57460	8.521000	0.90569	2.240000	0.73641	0.533000	0.62120	CAA		0.403	FAM83B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040994.1	XM_294139		4	111	0	0	0	1	0	4	111				
TMC1	117531	broad.mit.edu	37	9	75445550	75445550	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr9:75445550G>C	ENST00000297784.5	+	23	2752	c.2212G>C	c.(2212-2214)Gct>Cct	p.A738P	TMC1_ENST00000396237.3_Missense_Mutation_p.A738P|TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000340019.3_Missense_Mutation_p.A738P	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	738					auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TGTGTAGCAAGCTTTGGAGAA	0.303																																					Pancreas(75;173 1345 14232 34245 43413)	ENST00000297784.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(2212-2214)Gct>Cct		transmembrane channel-like 1							74.0	82.0	79.0					9																	75445550		2203	4300	6503	SO:0001583	missense	117531				sensory perception of sound	integral to membrane		g.chr9:75445550G>C	AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"""transmembrane, cochlear expressed, 1"""	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.2212G>C	9.37:g.75445550G>C	ENSP00000297784:p.Ala738Pro					TMC1_ENST00000396237.3_Missense_Mutation_p.A738P|TMC1_ENST00000340019.3_Missense_Mutation_p.A738P|TMC1_ENST00000486417.1_3'UTR	p.A738P	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN			23	2752	+			738					A8MVZ2|B1AM91	Missense_Mutation	SNP	ENST00000297784.5	37	c.2212G>C	CCDS6643.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.288461	0.80914	.	.	ENSG00000165091	ENST00000297784;ENST00000340019;ENST00000537917;ENST00000542143;ENST00000396237	T;T;T	0.68479	-0.33;-0.33;-0.33	5.07	5.07	0.68467	.	0.272217	0.35040	N	0.003494	T	0.61299	0.2336	N	0.22421	0.69	0.40134	D	0.976752	D	0.62365	0.991	P	0.48873	0.593	T	0.61836	-0.6981	10	0.34782	T	0.22	-4.7216	17.9798	0.89137	0.0:0.0:1.0:0.0	.	738	Q8TDI8	TMC1_HUMAN	P	738;738;705;732;738	ENSP00000297784:A738P;ENSP00000341433:A738P;ENSP00000379538:A738P	ENSP00000297784:A738P	A	+	1	0	TMC1	74635370	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.197000	0.72100	2.790000	0.95986	0.650000	0.86243	GCT		0.303	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1			6	15	0	0	0	1	0	6	15				
LOC644669	644669	broad.mit.edu	37	18	15323276	15323276	+	RNA	SNP	A	A	T	rs200953619		TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr18:15323276A>T	ENST00000455308.2	-	0	572				RNU6-721P_ENST00000410155.1_RNA	NR_027417.1																						ATCAACTGCAATTGCATTTGC	0.308																																						ENST00000455308.2																			0																																																			0							g.chr18:15323276A>T																													18.37:g.15323276A>T								NR_027417.1						0	572	-									RNA	SNP	ENST00000455308.2	37																																																																																						0.308	AP005901.1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373635.1			2	5	0	0	0	1	0	2	5				
B2M	567	broad.mit.edu	37	15	45003696	45003696	+	De_novo_Start_OutOfFrame	SNP	A	A	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr15:45003696A>T	ENST00000558401.1	+	0	22				B2M_ENST00000544417.1_5'Flank|PATL2_ENST00000558573.1_5'Flank|B2M_ENST00000559916.1_5'Flank	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|protein refolding (GO:0042026)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to molecule of bacterial origin (GO:0002237)|retina homeostasis (GO:0001895)|T cell differentiation in thymus (GO:0033077)|viral process (GO:0016032)	cytoplasm (GO:0005737)|early endosome lumen (GO:0031905)|early endosome membrane (GO:0031901)|endoplasmic reticulum lumen (GO:0005788)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		ATATAAGTGGAGGCGTCGCGC	0.612																																						ENST00000558401.1																			0				breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59								beta-2-microglobulin							55.0	44.0	48.0					15																	45003696		2198	4298	6496			567				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding	g.chr15:45003696A>T	AB021288	CCDS10113.1	15q21-q22.2	2013-01-11			ENSG00000166710	ENSG00000166710		"""Immunoglobulin superfamily / C1-set domain containing"""	914	protein-coding gene	gene with protein product		109700					Standard	NM_004048		Approved		uc001zuc.3	P61769	OTTHUMG00000131247	ENST00000558401.1:c.-49A>T	15.37:g.45003696A>T								NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)	0	22	+		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)						P01884|Q540F8|Q6IAT8|Q9UCK0|Q9UD48|Q9UDF4	Translation_Start_Site	SNP	ENST00000558401.1	37		CCDS10113.1																																																																																				0.612	B2M-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254007.2	NM_004048		4	30	0	0	0	1	0	4	30				
OR4C3	256144	broad.mit.edu	37	11	48346690	48346690	+	Silent	SNP	C	C	A			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr11:48346690C>A	ENST00000319856.4	+	1	219	c.198C>A	c.(196-198)ggC>ggA	p.G66G		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CGGTTTGTGGCAACATGCTCA	0.453																																						ENST00000319856.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						c.(196-198)ggC>ggA		olfactory receptor, family 4, subfamily C, member 3							160.0	133.0	143.0					11																	48346690		2201	4298	6499	SO:0001819	synonymous_variant	256144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:48346690C>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.198C>A	11.37:g.48346690C>A							p.G66G	NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN			1	219	+			39					B2RNF2|Q6IFB3	Silent	SNP	ENST00000319856.4	37	c.198C>A	CCDS31489.1																																																																																				0.453	OR4C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390557.1	NM_001004702		3	67	1	0	2.0095e-06	1	2.23975e-06	3	67				
MDN1	23195	broad.mit.edu	37	6	90363906	90363906	+	Missense_Mutation	SNP	T	T	C	rs538003553		TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr6:90363906T>C	ENST00000369393.3	-	93	15753	c.15638A>G	c.(15637-15639)aAg>aGg	p.K5213R	MDN1_ENST00000428876.1_Missense_Mutation_p.K5213R			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	5213					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GGTGCCCGACTTGATTTCCTC	0.522																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(15637-15639)aAg>aGg		MDN1, midasin homolog (yeast)							258.0	218.0	231.0					6																	90363906		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90363906T>C	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.15638A>G	6.37:g.90363906T>C	ENSP00000358400:p.Lys5213Arg					MDN1_ENST00000428876.1_Missense_Mutation_p.K5213R	p.K5213R			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	93	15753	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	5213					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.15638A>G	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	T	7.484	0.649340	0.14516	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03441	3.93;3.93	5.98	3.5	0.40072	.	0.408346	0.26696	N	0.022970	T	0.00695	0.0023	N	0.19112	0.55	0.21719	N	0.999575	B	0.10296	0.003	B	0.08055	0.003	T	0.49485	-0.8935	10	0.25751	T	0.34	.	3.6477	0.08191	0.1219:0.0679:0.2531:0.5571	.	5213	Q9NU22	MDN1_HUMAN	R	5213	ENSP00000358400:K5213R;ENSP00000413970:K5213R	ENSP00000358400:K5213R	K	-	2	0	MDN1	90420627	0.954000	0.32549	0.803000	0.32268	0.007000	0.05969	1.595000	0.36708	0.464000	0.27142	-0.460000	0.05396	AAG		0.522	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			46	103	0	0	0	1	0	46	103				
DLG5	9231	broad.mit.edu	37	10	79571786	79571786	+	Silent	SNP	C	C	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr10:79571786C>T	ENST00000372391.2	-	22	4223	c.4218G>A	c.(4216-4218)acG>acA	p.T1406T	DLG5_ENST00000372388.2_Silent_p.T1066T|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1406	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CCTGCTGCTCCGTGGCGCTCC	0.652																																						ENST00000372391.2																			0				breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(4216-4218)acG>acA		discs, large homolog 5 (Drosophila)							85.0	70.0	75.0					10																	79571786		2203	4300	6503	SO:0001819	synonymous_variant	9231				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity	g.chr10:79571786C>T	U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.4218G>A	10.37:g.79571786C>T						DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Silent_p.T1066T	p.T1406T	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)		22	4223	-	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		1406			PDZ 3.		A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Silent	SNP	ENST00000372391.2	37	c.4218G>A	CCDS7353.2																																																																																				0.652	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048900.2			6	105	0	0	0	1	0	6	105				
STAT3	6774	broad.mit.edu	37	17	40477031	40477031	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr17:40477031T>C	ENST00000264657.5	-	16	1726	c.1414A>G	c.(1414-1416)Aat>Gat	p.N472D	STAT3_ENST00000588969.1_Missense_Mutation_p.N472D|STAT3_ENST00000389272.3_Missense_Mutation_p.N374D|STAT3_ENST00000404395.3_Missense_Mutation_p.N472D|STAT3_ENST00000585517.1_Missense_Mutation_p.N472D	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	472					acute-phase response (GO:0006953)|astrocyte differentiation (GO:0048708)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular response to hormone stimulus (GO:0032870)|cytokine-mediated signaling pathway (GO:0019221)|eating behavior (GO:0042755)|eye photoreceptor cell differentiation (GO:0001754)|glucose homeostasis (GO:0042593)|growth hormone receptor signaling pathway (GO:0060396)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular receptor signaling pathway (GO:0030522)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron migration (GO:2001223)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|radial glial cell differentiation (GO:0060019)|regulation of multicellular organism growth (GO:0040014)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|sexual reproduction (GO:0019953)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)|temperature homeostasis (GO:0001659)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		GCCCAGGCATTTGGCATCTGA	0.577									Hyperimmunoglobulin E Recurrent Infection Syndrome																													ENST00000264657.5																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	GRCh37	CM083168	STAT3	M		c.(1414-1416)Aat>Gat		signal transducer and activator of transcription 3 (acute-phase response factor)							148.0	136.0	140.0					17																	40477031		2203	4300	6503	SO:0001583	missense	6774	Hyperimmunoglobulin E Recurrent Infection Syndrome	Familial Cancer Database	HIES, Hyper IgE syndrome, autosomal dominant (Job syndrome) / recessive	cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	g.chr17:40477031T>C	BC014482	CCDS32656.1, CCDS32657.1, CCDS59288.1	17q21	2014-09-17			ENSG00000168610	ENSG00000168610		"""SH2 domain containing"""	11364	protein-coding gene	gene with protein product		102582				7512451	Standard	NM_139276		Approved	APRF	uc002hzl.1	P40763	OTTHUMG00000150645	ENST00000264657.5:c.1414A>G	17.37:g.40477031T>C	ENSP00000264657:p.Asn472Asp					STAT3_ENST00000588969.1_Missense_Mutation_p.N472D|STAT3_ENST00000404395.3_Missense_Mutation_p.N472D|STAT3_ENST00000389272.3_Missense_Mutation_p.N374D|STAT3_ENST00000585517.1_Missense_Mutation_p.N472D	p.N472D	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.139)	16	1726	-		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)	472					A8K7B8|K7ENL3|O14916|Q9BW54	Missense_Mutation	SNP	ENST00000264657.5	37	c.1414A>G	CCDS32656.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.822088	0.90873	.	.	ENSG00000168610	ENST00000264657;ENST00000389272;ENST00000404395	D;D;D	0.88124	-2.34;-2.34;-2.34	5.61	5.61	0.85477	STAT transcription factor, DNA-binding (1);p53-like transcription factor, DNA-binding (1);EF-hand-like domain (1);	0.086699	0.85682	D	0.000000	D	0.89918	0.6854	L	0.41632	1.29	0.80722	D	1	D;D;D	0.58268	0.978;0.982;0.982	P;D;D	0.63192	0.857;0.912;0.912	D	0.91007	0.4847	10	0.72032	D	0.01	-38.9604	15.8028	0.78468	0.0:0.0:0.0:1.0	.	472;472;472	P40763-2;P40763;B5BTZ6	.;STAT3_HUMAN;.	D	472;374;472	ENSP00000264657:N472D;ENSP00000373923:N374D;ENSP00000384943:N472D	ENSP00000264657:N472D	N	-	1	0	STAT3	37730557	1.000000	0.71417	0.964000	0.40570	0.987000	0.75469	5.006000	0.63978	2.134000	0.65973	0.459000	0.35465	AAT		0.577	STAT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319353.3	NM_139276, NM_003150		5	136	0	0	0	1	0	5	136				
TTN	7273	broad.mit.edu	37	2	179397722	179397722	+	Nonsense_Mutation	SNP	A	A	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr2:179397722A>T	ENST00000591111.1	-	308	98921	c.98697T>A	c.(98695-98697)taT>taA	p.Y32899*	TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.Y25600*|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.Y34540*|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.Y25475*|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.Y25667*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.Y31972*			Q8WZ42	TITIN_HUMAN	titin	32899					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)			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)			CTGGTACATCATAAGGCATCC	0.438																																						ENST00000589042.1																			0				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.(103618-103620)taT>taA		titin							160.0	167.0	165.0					2																	179397722		2011	4181	6192	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179397722A>T	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.98697T>A	2.37:g.179397722A>T	ENSP00000465570:p.Tyr32899*					TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.Y32899*|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.Y25475*|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.Y25600*|TTN_ENST00000342992.6_Nonsense_Mutation_p.Y31972*|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.Y25667*|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592182.1_RNA	p.Y34540*	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)		358	103844	-			32899					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	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.103620T>A		.	.	.	.	.	.	.	.	.	.	A	72	113.900151	0.99999	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.94	-4.0	0.04057	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.034	0.71731	0.4484:0.0:0.5516:0.0	.	.	.	.	X	31972;25475;25667;25600;25472	.	ENSP00000340554:Y25667X	Y	-	3	2	TTN	179105968	0.546000	0.26457	0.858000	0.33744	0.926000	0.56050	0.011000	0.13264	-0.610000	0.05716	-0.379000	0.06801	TAT		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		34	120	0	0	0	1	0	34	120				
MYH7	4625	broad.mit.edu	37	14	23898270	23898270	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr14:23898270C>T	ENST00000355349.3	-	14	1463	c.1301G>A	c.(1300-1302)aGg>aAg	p.R434K		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	434	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GTTGAACATCCTCTCATACAC	0.542																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(1300-1302)aGg>aAg		myosin, heavy chain 7, cardiac muscle, beta							144.0	127.0	133.0					14																	23898270		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23898270C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.1301G>A	14.37:g.23898270C>T	ENSP00000347507:p.Arg434Lys						p.R434K	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	14	1463	-	all_cancers(95;2.54e-05)		434			Myosin head-like.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.1301G>A	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	c	1.349	-0.591893	0.03799	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.88664	-2.41	4.18	-2.61	0.06171	Myosin head, motor domain (2);	.	.	.	.	T	0.78419	0.4280	N	0.25825	0.765	0.21782	N	0.999541	B	0.02656	0.0	B	0.01281	0.0	T	0.59440	-0.7454	9	0.10902	T	0.67	.	11.4013	0.49873	0.0:0.3619:0.0:0.6381	.	434	P12883	MYH7_HUMAN	K	434	ENSP00000347507:R434K	ENSP00000347507:R434K	R	-	2	0	MYH7	22968110	0.983000	0.35010	0.980000	0.43619	0.520000	0.34377	0.109000	0.15417	-0.725000	0.04901	-1.662000	0.00750	AGG		0.542	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		4	118	0	0	0	1	0	4	118				
TXNDC16	57544	broad.mit.edu	37	14	52957171	52957171	+	Splice_Site	SNP	T	T	C			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr14:52957171T>C	ENST00000281741.4	-	11	1295		c.e11-2		TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16						cell redox homeostasis (GO:0045454)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					AAAGAGTCCCTTTTTCAAAAT	0.303																																						ENST00000281741.4																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21						c.e11-2		thioredoxin domain containing 16							69.0	67.0	67.0					14																	52957171		2202	4291	6493	SO:0001630	splice_region_variant	57544				cell redox homeostasis	extracellular region		g.chr14:52957171T>C	AB037765	CCDS32083.1	14q22.1	2007-08-16	2007-08-16	2007-08-16		ENSG00000087301			19965	protein-coding gene	gene with protein product			"""KIAA1344"""	KIAA1344			Standard	NM_020784		Approved		uc001wzs.3	Q9P2K2		ENST00000281741.4:c.924-2A>G	14.37:g.52957171T>C						TXNDC16_ENST00000554399.1_Intron		NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN			11	1295	-	Breast(41;0.0716)							A5PKW9|A7E260|A7MD07|B9EH67|Q9H9W7	Splice_Site	SNP	ENST00000281741.4	37		CCDS32083.1	.	.	.	.	.	.	.	.	.	.	T	19.09	3.759965	0.69763	.	.	ENSG00000087301	ENST00000281741	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6592	0.51337	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TXNDC16	52026921	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.583000	0.60964	2.063000	0.61619	0.460000	0.39030	.		0.303	TXNDC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411681.1	XM_051699	Intron	2	21	0	0	0	1	0	2	21				
PPARGC1A	10891	broad.mit.edu	37	4	23815648	23815648	+	Silent	SNP	G	G	A			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr4:23815648G>A	ENST00000264867.2	-	8	1577	c.1458C>T	c.(1456-1458)gaC>gaT	p.D486D	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	486	Mediates interaction with RNF34. {ECO:0000269|PubMed:22064484}.				androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TGAAATCACTGTCCCTCAGTT	0.453																																					Esophageal Squamous(29;694 744 13796 34866 44181)	ENST00000264867.2																			0				central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51						c.(1456-1458)gaC>gaT		peroxisome proliferator-activated receptor gamma, coactivator 1 alpha							135.0	125.0	128.0					4																	23815648		2203	4300	6503	SO:0001819	synonymous_variant	10891				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	g.chr4:23815648G>A	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"""RNA binding motif (RRM) containing"""	9237	protein-coding gene	gene with protein product		604517	"""peroxisome proliferative activated receptor, gamma, coactivator 1"", ""peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"""	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.1458C>T	4.37:g.23815648G>A						PPARGC1A_ENST00000509702.1_5'UTR	p.D486D	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN			8	1577	-		Breast(46;0.0503)	486					B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Silent	SNP	ENST00000264867.2	37	c.1458C>T	CCDS3429.1																																																																																				0.453	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		34	102	0	0	0	1	0	34	102				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		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)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	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.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>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	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		3	50	0	0	0	1	0	3	50				
TMC1	117531	broad.mit.edu	37	9	75445552	75445552	+	Silent	SNP	T	T	G	rs111387206		TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr9:75445552T>G	ENST00000297784.5	+	23	2754	c.2214T>G	c.(2212-2214)gcT>gcG	p.A738A	TMC1_ENST00000396237.3_Silent_p.A738A|TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000340019.3_Silent_p.A738A	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	738					auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TGTAGCAAGCTTTGGAGAACA	0.299																																					Pancreas(75;173 1345 14232 34245 43413)	ENST00000297784.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(2212-2214)gcT>gcG		transmembrane channel-like 1							73.0	82.0	79.0					9																	75445552		2203	4300	6503	SO:0001819	synonymous_variant	117531				sensory perception of sound	integral to membrane		g.chr9:75445552T>G	AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"""transmembrane, cochlear expressed, 1"""	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.2214T>G	9.37:g.75445552T>G						TMC1_ENST00000396237.3_Silent_p.A738A|TMC1_ENST00000340019.3_Silent_p.A738A|TMC1_ENST00000486417.1_3'UTR	p.A738A	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN			23	2754	+			738					A8MVZ2|B1AM91	Silent	SNP	ENST00000297784.5	37	c.2214T>G	CCDS6643.1																																																																																				0.299	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1			6	15	0	0	0	1	0	6	15				
DSP	1832	broad.mit.edu	37	6	7575021	7575021	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr6:7575021G>A	ENST00000379802.3	+	17	2770	c.2429G>A	c.(2428-2430)gGa>gAa	p.G810E	DSP_ENST00000418664.2_Missense_Mutation_p.G810E	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	810	Globular 1.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.G810E(1)		biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TACCGCTGTGGACTGAAGGTA	0.438																																						ENST00000379802.3																			1	Substitution - Missense(1)	p.G810E(1)	lung(1)	biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(2428-2430)gGa>gAa		desmoplakin							84.0	81.0	82.0					6																	7575021		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7575021G>A	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.2429G>A	6.37:g.7575021G>A	ENSP00000369129:p.Gly810Glu					DSP_ENST00000418664.2_Missense_Mutation_p.G810E	p.G810E	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	17	2770	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	810			Globular 1.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.2429G>A	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.639276	0.29157	.	.	ENSG00000096696	ENST00000379802;ENST00000418664;ENST00000397483	T;T	0.80480	-1.38;-1.38	5.82	5.82	0.92795	.	0.207171	0.33834	N	0.004508	T	0.34250	0.0891	N	0.01874	-0.695	0.38714	D	0.95328	P;P	0.34462	0.454;0.454	B;B	0.27887	0.084;0.084	T	0.58120	-0.7692	10	0.02654	T	1	.	15.5653	0.76287	0.0:0.1371:0.8628:0.0	.	857;810	Q4LE79;P15924	.;DESP_HUMAN	E	810;810;615	ENSP00000369129:G810E;ENSP00000396591:G810E	ENSP00000369129:G810E	G	+	2	0	DSP	7520020	0.999000	0.42202	0.998000	0.56505	0.991000	0.79684	5.565000	0.67365	2.752000	0.94435	0.655000	0.94253	GGA		0.438	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		9	37	0	0	0	1	0	9	37				
TBC1D7	51256	broad.mit.edu	37	6	13321294	13321294	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr6:13321294T>C	ENST00000379300.3	-	4	470	c.227A>G	c.(226-228)aAg>aGg	p.K76R	TBC1D7_ENST00000607658.1_Missense_Mutation_p.K49R|TBC1D7_ENST00000356436.4_Missense_Mutation_p.K76R|TBC1D7_ENST00000379307.2_Missense_Mutation_p.K49R|TBC1D7_ENST00000343141.4_Missense_Mutation_p.K76R|TBC1D7_ENST00000607532.1_5'UTR	NM_001143964.2|NM_016495.4	NP_001137436.1|NP_057579.1	Q9P0N9	TBCD7_HUMAN	TBC1 domain family, member 7	76	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				activation of Rho GTPase activity (GO:0032862)|negative regulation of cilium assembly (GO:1902018)|negative regulation of TOR signaling (GO:0032007)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of Rab GTPase activity (GO:0032851)|response to growth factor (GO:0070848)	ciliary basal body (GO:0036064)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			CATCATCACCTTGGCATGGGA	0.463																																						ENST00000607658.1																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22						c.(145-147)aAg>aGg		TBC1 domain family, member 7							242.0	222.0	229.0					6																	13321294		2203	4300	6503	SO:0001583	missense	51256				positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	protein binding|Rab GTPase activator activity	g.chr6:13321294T>C	AF151073	CCDS4523.1, CCDS47376.1, CCDS58995.1	6p23	2013-07-10			ENSG00000145979	ENSG00000145979			21066	protein-coding gene	gene with protein product		612655				11042152, 17646400	Standard	XM_005249163		Approved	dJ257A7.3, FLJ32666	uc003nan.3	Q9P0N9	OTTHUMG00000014272	ENST00000379300.3:c.227A>G	6.37:g.13321294T>C	ENSP00000368602:p.Lys76Arg					TBC1D7_ENST00000379300.3_Missense_Mutation_p.K76R|TBC1D7_ENST00000379307.2_Missense_Mutation_p.K49R|TBC1D7_ENST00000607532.1_5'UTR|TBC1D7_ENST00000343141.4_Missense_Mutation_p.K76R|TBC1D7_ENST00000356436.4_Missense_Mutation_p.K76R	p.K49R			Q9P0N9	TBCD7_HUMAN	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)		3	296	-	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	76					E7EV96|Q2TU37|Q53F44|Q5SZL7|Q86VM8|Q96MB8	Missense_Mutation	SNP	ENST00000379300.3	37	c.146A>G	CCDS4523.1	.	.	.	.	.	.	.	.	.	.	T	12.94	2.088243	0.36855	.	.	ENSG00000145979	ENST00000334971;ENST00000421203;ENST00000356436;ENST00000379300;ENST00000379307;ENST00000343141;ENST00000452989;ENST00000450347;ENST00000422136;ENST00000446018;ENST00000420456;ENST00000428109;ENST00000416436;ENST00000379291	T;T;T;T;T;T;T;T;T;T;T;T;T	0.29142	2.33;2.33;2.33;1.58;3.82;1.58;1.58;2.33;1.58;1.58;2.33;2.33;3.82	5.76	3.33	0.38152	Rab-GAP/TBC domain (1);	0.240920	0.42420	D	0.000714	T	0.05868	0.0153	N	0.22421	0.69	0.23271	N	0.998003	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.001;0.0;0.0;0.0	T	0.37641	-0.9697	10	0.25106	T	0.35	-4.4741	5.4285	0.16440	0.4068:0.0762:0.0:0.5169	.	76;49;49;49;76	Q2TU37;Q5JPB9;Q5SZL5;Q9P0N9-2;Q9P0N9	.;.;.;.;TBCD7_HUMAN	R	17;76;76;76;49;76;49;49;76;49;49;76;76;76	ENSP00000401438:K76R;ENSP00000348813:K76R;ENSP00000368602:K76R;ENSP00000368609:K49R;ENSP00000343100:K76R;ENSP00000414292:K49R;ENSP00000404680:K49R;ENSP00000394425:K76R;ENSP00000417005:K49R;ENSP00000412102:K49R;ENSP00000414101:K76R;ENSP00000401339:K76R;ENSP00000368593:K76R	ENSP00000334212:K17R	K	-	2	0	TBC1D7	13429273	1.000000	0.71417	0.975000	0.42487	0.908000	0.53690	3.608000	0.54109	0.435000	0.26365	0.397000	0.26171	AAG		0.463	TBC1D7-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039896.2	NM_016495		17	257	0	0	0	1	0	17	257				
ZNF154	7710	broad.mit.edu	37	19	58213660	58213660	+	Silent	SNP	A	A	G			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr19:58213660A>G	ENST00000512439.2	-	3	853	c.657T>C	c.(655-657)tgT>tgC	p.C219C	AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron|ZNF154_ENST00000426889.1_Silent_p.C219C			Q13106	ZN154_HUMAN	zinc finger protein 154	219					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CACATTCATCACATTCATGAG	0.433																																						ENST00000512439.2																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12						c.(655-657)tgT>tgC		zinc finger protein 154							92.0	92.0	92.0					19																	58213660		2197	4300	6497	SO:0001819	synonymous_variant	7710					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58213660A>G	U20648	CCDS42639.1	19q13.4	2013-01-08	2006-08-22		ENSG00000179909	ENSG00000179909		"""Zinc fingers, C2H2-type"", ""-"""	12939	protein-coding gene	gene with protein product		604085	"""zinc finger protein 154 (pHZ-92)"""			7557990	Standard	XR_243957		Approved	pHZ-92	uc010euf.3	Q13106	OTTHUMG00000140375	ENST00000512439.2:c.657T>C	19.37:g.58213660A>G						ZNF154_ENST00000426889.1_Silent_p.C219C|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000596085.1_Intron	p.C219C			Q13106	ZN154_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)	3	853	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	219					A7MCY3|Q8IVG7|Q8NAR0	Silent	SNP	ENST00000512439.2	37	c.657T>C	CCDS42639.1																																																																																				0.433	ZNF154-002	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277102.2			34	73	0	0	0	1	0	34	73				
EEF1DP3	196549	broad.mit.edu	37	13	32527092	32527092	+	RNA	SNP	G	G	A			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr13:32527092G>A	ENST00000428783.1	+	0	792							Q658K8	EF1DL_HUMAN	eukaryotic translation elongation factor 1 delta pseudogene 3								translation elongation factor activity (GO:0003746)										CCCCGGCCAAGAAGCTAGCCA	0.617																																						ENST00000428783.1																			0																				17.0	16.0	16.0					13																	32527092		692	1591	2283			0							g.chr13:32527092G>A			13q13.1	2012-10-23			ENSG00000229715	ENSG00000229715			30486	pseudogene	pseudogene						12477932	Standard	NR_027062		Approved		uc001utu.3	Q658K8	OTTHUMG00000016691		13.37:g.32527092G>A														0	792	+								Q08AR3	RNA	SNP	ENST00000428783.1	37																																																																																						0.617	EEF1DP3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000044400.2	NR_027062		4	87	0	0	0	1	0	4	87				
SNX13	23161	broad.mit.edu	37	7	17885263	17885263	+	Silent	SNP	G	G	A			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr7:17885263G>A	ENST00000409389.1	-	12	1292	c.1120C>T	c.(1120-1122)Ctg>Ttg	p.L374L	SNX13_ENST00000428135.3_Silent_p.L374L			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	374	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	early endosome (GO:0005769)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					ATGCTGTCCAGGGGGACTGTG	0.323																																						ENST00000409389.1																			0				breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38						c.(1120-1122)Ctg>Ttg		sorting nexin 13							44.0	44.0	44.0					7																	17885263		1806	4084	5890	SO:0001819	synonymous_variant	23161				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr7:17885263G>A	AF420470	CCDS47551.1	7p21.1	2008-03-11			ENSG00000071189	ENSG00000071189		"""Sorting nexins"""	21335	protein-coding gene	gene with protein product		606589				11485546, 11729322	Standard	NM_015132		Approved	RGS-PX1, KIAA0713	uc003stv.3	Q9Y5W8	OTTHUMG00000152730	ENST00000409389.1:c.1120C>T	7.37:g.17885263G>A						SNX13_ENST00000428135.3_Silent_p.L374L	p.L374L			Q9Y5W8	SNX13_HUMAN			12	1292	-	Lung NSC(10;0.0261)|all_lung(11;0.0521)		374			RGS.		B2RCI9|O94821|Q8WVZ2|Q8WXH8	Silent	SNP	ENST00000409389.1	37	c.1120C>T																																																																																					0.323	SNX13-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000327608.1	NM_015132		4	12	0	0	0	1	0	4	12				
MRVI1	10335	broad.mit.edu	37	11	10647847	10647847	+	Missense_Mutation	SNP	G	G	A	rs371956442		TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr11:10647847G>A	ENST00000436272.1	-	8	1031	c.953C>T	c.(952-954)cCg>cTg	p.P318L	MRVI1_ENST00000527509.2_Missense_Mutation_p.P254L|MRVI1_ENST00000423302.2_Missense_Mutation_p.P345L|MRVI1_ENST00000424001.1_Missense_Mutation_p.P30L|MRVI1_ENST00000534266.2_Missense_Mutation_p.P30L|MRVI1_ENST00000531107.1_Missense_Mutation_p.P337L|MRVI1_ENST00000541483.1_Intron|MRVI1_ENST00000545852.1_Missense_Mutation_p.P30L|MRVI1_ENST00000552103.1_Missense_Mutation_p.P254L|MRVI1_ENST00000547195.1_Missense_Mutation_p.P254L|MRVI1_ENST00000421747.1_Missense_Mutation_p.P336L|MRVI1_ENST00000558540.1_Missense_Mutation_p.P30L			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	318					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TGGACTTCTCGGCAGAGGGCT	0.672																																						ENST00000547195.1																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22						c.(760-762)cCg>cTg		murine retrovirus integration site 1 homolog		G	LEU/PRO,LEU/PRO,LEU/PRO,,LEU/PRO,LEU/PRO	1,3745		0,1,1872	29.0	30.0	30.0		1010,761,89,,89,1034	0.8	0.5	11		30	3,8193		0,3,4095	no	missense,missense,missense,intron,missense,missense	MRVI1	NM_001098579.2,NM_001100163.2,NM_001100167.2,NM_001206880.1,NM_001206881.1,NM_130385.3	98,98,98,,98,98	0,4,5967	AA,AG,GG		0.0366,0.0267,0.0335	benign,benign,benign,,benign,benign	337/905,254/822,30/598,,30/598,345/913	10647847	4,11938	1873	4098	5971	SO:0001583	missense	10335				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum		g.chr11:10647847G>A	AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"""inositol 1,4,5-triphosphate-associated cGMP kinase substrate"", ""IP3R-associated cGMP kinase substrate"""	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.953C>T	11.37:g.10647847G>A	ENSP00000412229:p.Pro318Leu					MRVI1_ENST00000423302.2_Missense_Mutation_p.P345L|MRVI1_ENST00000527509.2_Missense_Mutation_p.P254L|MRVI1_ENST00000424001.1_Missense_Mutation_p.P30L|MRVI1_ENST00000531107.1_Missense_Mutation_p.P337L|MRVI1_ENST00000421747.1_Missense_Mutation_p.P336L|MRVI1_ENST00000436272.1_Missense_Mutation_p.P318L|MRVI1_ENST00000558540.1_Missense_Mutation_p.P30L|MRVI1_ENST00000534266.2_Missense_Mutation_p.P30L|MRVI1_ENST00000545852.1_Missense_Mutation_p.P30L|MRVI1_ENST00000552103.1_Missense_Mutation_p.P254L|MRVI1_ENST00000541483.1_Intron	p.P254L	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN		all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)	8	1261	-			318					B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Missense_Mutation	SNP	ENST00000436272.1	37	c.761C>T		.	.	.	.	.	.	.	.	.	.	G	6.989	0.552578	0.13374	2.67E-4	3.66E-4	ENSG00000072952	ENST00000421747;ENST00000308763;ENST00000436272;ENST00000547195;ENST00000552103;ENST00000545852;ENST00000424001;ENST00000423302;ENST00000531107;ENST00000527509	T;T;T;T;T;T;T;T;T	0.14766	2.48;2.48;2.48;2.48;2.48;2.48;2.48;2.48;2.48	5.41	0.829	0.18847	.	0.368334	0.28724	N	0.014357	T	0.05914	0.0154	N	0.16478	0.41	0.23198	N	0.998132	B;B;B	0.14012	0.009;0.009;0.007	B;B;B	0.10450	0.005;0.005;0.003	T	0.26950	-1.0088	10	0.36615	T	0.2	-1.8315	0.5497	0.00660	0.3819:0.1752:0.2647:0.1782	.	318;337;336	Q9Y6F6;E9PQY6;Q9Y6F6-4	MRVI1_HUMAN;.;.	L	336;319;318;254;254;30;30;345;337;254	ENSP00000414598:P336L;ENSP00000412229:P318L;ENSP00000448278:P254L;ENSP00000446764:P254L;ENSP00000441971:P30L;ENSP00000401205:P30L;ENSP00000412130:P345L;ENSP00000432436:P337L;ENSP00000432067:P254L	ENSP00000307885:P319L	P	-	2	0	MRVI1	10604423	0.770000	0.28543	0.532000	0.27989	0.341000	0.28922	1.234000	0.32660	0.337000	0.23665	-0.990000	0.02549	CCG		0.672	MRVI1-203	KNOWN	basic	protein_coding	protein_coding		NM_001098579		7	12	0	0	0	1	0	7	12				
FRG1B	284802	broad.mit.edu	37	20	29625891	29625891	+	Silent	SNP	C	C	G			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr20:29625891C>G	ENST00000278882.3	+	5	515	c.135C>G	c.(133-135)ggC>ggG	p.G45G	FRG1B_ENST00000439954.2_Silent_p.G50G|FRG1B_ENST00000358464.4_Silent_p.G45G			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	45										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGAAATCTGGCTATGGAAAAT	0.343																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(133-135)ggC>ggG																																						SO:0001819	synonymous_variant	0							g.chr20:29625891C>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.135C>G	20.37:g.29625891C>G						FRG1B_ENST00000358464.4_Silent_p.G45G|FRG1B_ENST00000439954.2_Silent_p.G50G	p.G45G							5	515	+								C4AME5	Silent	SNP	ENST00000278882.3	37	c.135C>G																																																																																					0.343	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	62	0	0	0	1	0	4	62				
TMEM176A	55365	broad.mit.edu	37	7	150500789	150500789	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr7:150500789T>C	ENST00000484928.1	+	5	1005	c.424T>C	c.(424-426)Tat>Cat	p.Y142H	TMEM176A_ENST00000004103.3_Missense_Mutation_p.Y142H|TMEM176B_ENST00000447204.2_5'Flank|TMEM176A_ENST00000461345.1_Missense_Mutation_p.Y83H			Q96HP8	T176A_HUMAN	transmembrane protein 176A	142					negative regulation of dendritic cell differentiation (GO:2001199)	integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGATTTCCGATATGGCTACTC	0.552																																						ENST00000484928.1																			0				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12						c.(424-426)Tat>Cat		transmembrane protein 176A							74.0	79.0	77.0					7																	150500789		2203	4300	6503	SO:0001583	missense	55365					integral to membrane		g.chr7:150500789T>C	AF258340	CCDS5909.1	7q36.1	2006-09-04			ENSG00000002933	ENSG00000002933			24930	protein-coding gene	gene with protein product		610334				12097419, 8889548	Standard	NM_018487		Approved	HCA112	uc003whx.1	Q96HP8	OTTHUMG00000158114	ENST00000484928.1:c.424T>C	7.37:g.150500789T>C	ENSP00000417626:p.Tyr142His					TMEM176A_ENST00000004103.3_Missense_Mutation_p.Y142H|TMEM176A_ENST00000461345.1_Missense_Mutation_p.Y83H	p.Y142H			Q96HP8	T176A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	5	1005	+			142					D3DX00|Q9NYC7	Missense_Mutation	SNP	ENST00000484928.1	37	c.424T>C	CCDS5909.1	.	.	.	.	.	.	.	.	.	.	T	9.384	1.073662	0.20147	.	.	ENSG00000002933	ENST00000484928;ENST00000004103;ENST00000461345;ENST00000475536;ENST00000468689	T;T;T;T;T	0.48201	4.45;4.45;0.82;4.45;0.82	3.45	-6.9	0.01655	.	6.446740	0.00166	N	0.000005	T	0.34948	0.0915	L	0.50333	1.59	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11941	-1.0567	10	0.48119	T	0.1	-10.4957	0.7736	0.01028	0.3083:0.1095:0.1747:0.4075	.	142	Q96HP8	T176A_HUMAN	H	142;142;83;94;83	ENSP00000417626:Y142H;ENSP00000004103:Y142H;ENSP00000420818:Y83H;ENSP00000417834:Y94H;ENSP00000420081:Y83H	ENSP00000004103:Y142H	Y	+	1	0	TMEM176A	150131722	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.863000	0.00725	-1.614000	0.01575	0.454000	0.30748	TAT		0.552	TMEM176A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350222.1	NM_018487		8	130	0	0	0	1	0	8	130				
UBBP4	23666	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	byFrequency	TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr17:21730916G>T	ENST00000578713.1	+	1	222	c.218G>T	c.(217-219)cGg>cTg	p.R73L	UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000584755.1_Missense_Mutation_p.R73L|UBBP4_ENST00000583708.1_Intron					ubiquitin B pseudogene 4									p.R73L(24)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCGGAGAGGTGGT	0.552													.|||	27	0.00539137	0.0182	0.0029	5008	,	,		20752	0.0		0.0	False		,,,				2504	0.001					ENST00000584755.1																			24	Substitution - Missense(24)	p.R73L(24)	kidney(9)|urinary_tract(6)|endometrium(6)|prostate(3)	endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(217-219)cGg>cTg																																						SO:0001583	missense	0							g.chr17:21730916G>T	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.218G>T	17.37:g.21730916G>T	ENSP00000464265:p.Arg73Leu					UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L|UBBP4_ENST00000584398.1_Intron	p.R73L							2	615	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.218G>T																																																																																					0.552	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			3	76	1	0	0.115264	1	0.118589	3	76				
C1QL4	338761	broad.mit.edu	37	12	49729849	49729849	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr12:49729849C>T	ENST00000334221.3	-	1	1122	c.412G>A	c.(412-414)Gcc>Acc	p.A138T		NM_001008223.1	NP_001008224.1	Q86Z23	C1QL4_HUMAN	complement component 1, q subcomponent-like 4	138	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				large_intestine(2)|lung(1)|ovary(1)|skin(1)	5						GCCTCGTAGGCGTTGCCCACG	0.652																																						ENST00000334221.3																			0				large_intestine(2)|lung(1)|ovary(1)|skin(1)	5						c.(412-414)Gcc>Acc		complement component 1, q subcomponent-like 4							33.0	32.0	32.0					12																	49729849		2203	4300	6503	SO:0001583	missense	338761					collagen		g.chr12:49729849C>T		CCDS31793.1	12q13.12	2012-04-12				ENSG00000186897			31416	protein-coding gene	gene with protein product		615229					Standard	NM_001008223		Approved	C1QTNF11, CTRP11	uc001rtz.1	Q86Z23	OTTHUMG00000169515	ENST00000334221.3:c.412G>A	12.37:g.49729849C>T	ENSP00000335285:p.Ala138Thr						p.A138T	NM_001008223.1	NP_001008224.1	Q86Z23	C1QL4_HUMAN			1	1122	-			138			C1q.			Missense_Mutation	SNP	ENST00000334221.3	37	c.412G>A	CCDS31793.1	.	.	.	.	.	.	.	.	.	.	C	17.96	3.515592	0.64634	.	.	ENSG00000186897	ENST00000334221	T	0.76448	-1.02	5.61	4.71	0.59529	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.289868	0.27340	N	0.019817	T	0.71099	0.3300	L	0.51914	1.62	0.31339	N	0.683835	P	0.51147	0.942	B	0.40199	0.322	T	0.76121	-0.3075	10	0.52906	T	0.07	.	12.2046	0.54345	0.4222:0.5778:0.0:0.0	.	138	Q86Z23	C1QL4_HUMAN	T	138	ENSP00000335285:A138T	ENSP00000335285:A138T	A	-	1	0	C1QL4	48016116	0.974000	0.33945	0.799000	0.32177	0.828000	0.46876	0.267000	0.18552	1.367000	0.46095	0.655000	0.94253	GCC		0.652	C1QL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404561.1	NM_001008223		10	14	0	0	0	1	0	10	14				
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	C	G	rs199732634		TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr19:58385762C>G	ENST00000435989.2	-	3	1230	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	332					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S332S(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358																																						ENST00000435989.2																			2	Substitution - coding silent(2)	p.S332S(2)	kidney(2)	NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(994-996)tcG>tcC		zinc finger protein 814							25.0	25.0	25.0					19																	58385762		692	1589	2281	SO:0001819	synonymous_variant	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385762C>G		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.996G>C	19.37:g.58385762C>G						ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron	p.S332S	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN			3	1230	-			332					A6NF35	Silent	SNP	ENST00000435989.2	37	c.996G>C	CCDS46212.1																																																																																				0.358	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708		2	3	0	0	0	1	0	2	3				
R3HDM2	22864	broad.mit.edu	37	12	57674222	57674222	+	Silent	SNP	C	C	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr12:57674222C>T	ENST00000347140.3	-	14	1611	c.1221G>A	c.(1219-1221)caG>caA	p.Q407Q	R3HDM2_ENST00000403821.2_Silent_p.Q407Q|R3HDM2_ENST00000413953.2_Silent_p.Q134Q|R3HDM2_ENST00000358907.2_Silent_p.Q407Q|R3HDM2_ENST00000441731.2_Silent_p.Q68Q|R3HDM2_ENST00000402412.1_Silent_p.Q421Q|RP11-123K3.4_ENST00000548184.1_3'UTR			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	407	Gln-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						gctgctgctgctgttgctgct	0.567																																						ENST00000402412.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(1261-1263)caG>caA		R3H domain containing 2							104.0	93.0	97.0					12																	57674222		2203	4300	6503	SO:0001819	synonymous_variant	22864					nucleus	nucleic acid binding	g.chr12:57674222C>T	AB023219	CCDS8937.2	12q13.3	2012-11-19			ENSG00000179912	ENSG00000179912			29167	protein-coding gene	gene with protein product							Standard	NM_014925		Approved	KIAA1002	uc009zpm.1	Q9Y2K5	OTTHUMG00000171568	ENST00000347140.3:c.1221G>A	12.37:g.57674222C>T						R3HDM2_ENST00000347140.3_Silent_p.Q407Q|R3HDM2_ENST00000413953.2_Silent_p.Q134Q|R3HDM2_ENST00000358907.2_Silent_p.Q407Q|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000441731.2_Silent_p.Q68Q|R3HDM2_ENST00000393811.2_Silent_p.Q134Q|R3HDM2_ENST00000403821.2_Silent_p.Q407Q	p.Q421Q			Q9Y2K5	R3HD2_HUMAN			14	1653	-			407			Gln-rich.		Q2M1T9|Q3ZCT5	Silent	SNP	ENST00000347140.3	37	c.1263G>A	CCDS8937.2	.	.	.	.	.	.	.	.	.	.	C	12.71	2.018308	0.35606	.	.	ENSG00000179912	ENST00000466401	.	.	.	4.49	1.62	0.23740	.	.	.	.	.	T	0.51719	0.1691	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36768	-0.9734	4	.	.	.	1.0729	5.4164	0.16376	0.0:0.5998:0.1455:0.2548	.	.	.	.	N	5	.	.	S	-	2	0	R3HDM2	55960489	0.030000	0.19436	0.992000	0.48379	0.921000	0.55340	-1.132000	0.03235	0.156000	0.19299	-0.294000	0.09567	AGC		0.567	R3HDM2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326570.2	NM_014925		3	73	0	0	0	1	0	3	73				
MAG	4099	broad.mit.edu	37	19	35786682	35786682	+	Silent	SNP	G	G	A	rs199750254		TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr19:35786682G>A	ENST00000392213.3	+	4	372	c.213G>A	c.(211-213)ccG>ccA	p.P71P	MAG_ENST00000537831.2_Silent_p.P46P|MAG_ENST00000597035.1_Intron|MAG_ENST00000361922.4_Silent_p.P71P	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	71	Ig-like V-type.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)	p.P71P(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			ACTACCCCCCGGTGGTCTTCA	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		16243	0.0		0.0	False		,,,				2504	0.001					ENST00000361922.4																			2	Substitution - coding silent(2)	p.P71P(2)	endometrium(2)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34						c.(211-213)ccG>ccA		myelin associated glycoprotein							85.0	95.0	91.0					19																	35786682		2203	4300	6503	SO:0001819	synonymous_variant	4099				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	g.chr19:35786682G>A	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6783	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 4A"""	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.213G>A	19.37:g.35786682G>A						MAG_ENST00000392213.3_Silent_p.P71P|MAG_ENST00000537831.2_Silent_p.P46P|MAG_ENST00000597035.1_Intron	p.P71P	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		4	363	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	71			Ig-like V-type.		B7Z2E5|F5GYC0|Q567S4	Silent	SNP	ENST00000392213.3	37	c.213G>A	CCDS12455.1																																																																																				0.637	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600		10	203	0	0	0	1	0	10	203				
ARPC5L	81873	broad.mit.edu	37	9	127637421	127637421	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr9:127637421G>C	ENST00000353214.2	+	5	1642	c.390G>C	c.(388-390)tgG>tgC	p.W130C	ARPC5L_ENST00000259477.6_Missense_Mutation_p.W130C|ARPC5L_ENST00000465124.1_3'UTR			Q9BPX5	ARP5L_HUMAN	actin related protein 2/3 complex, subunit 5-like	130					regulation of actin filament polymerization (GO:0030833)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)				large_intestine(2)|lung(1)	3						TACTCCAGTGGCACGAAAAGG	0.507																																						ENST00000353214.2																			0				large_intestine(2)|lung(1)	3						c.(388-390)tgG>tgC		actin related protein 2/3 complex, subunit 5-like							71.0	72.0	72.0					9																	127637421		2203	4300	6503	SO:0001583	missense	81873				regulation of actin filament polymerization	cytoplasm|cytoskeleton	actin binding	g.chr9:127637421G>C	AF087842	CCDS6859.1	9q34.11	2011-07-06			ENSG00000136950	ENSG00000136950		"""Actin related protein 2/3 complex subunits"""	23366	protein-coding gene	gene with protein product							Standard	NM_030978		Approved	MGC3038, ARC16-2	uc004bpa.4	Q9BPX5	OTTHUMG00000020660	ENST00000353214.2:c.390G>C	9.37:g.127637421G>C	ENSP00000345361:p.Trp130Cys					ARPC5L_ENST00000465124.1_3'UTR|ARPC5L_ENST00000259477.6_Missense_Mutation_p.W130C	p.W130C			Q9BPX5	ARP5L_HUMAN			5	1642	+			130					Q7Z523	Missense_Mutation	SNP	ENST00000353214.2	37	c.390G>C	CCDS6859.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.044860	0.75732	.	.	ENSG00000136950	ENST00000353214;ENST00000259477	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.87545	0.6204	M	0.94142	3.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.90351	0.4366	9	0.87932	D	0	-13.2393	18.9755	0.92735	0.0:0.0:1.0:0.0	.	130;130	B3KPC7;Q9BPX5	.;ARP5L_HUMAN	C	130	.	ENSP00000259477:W130C	W	+	3	0	ARPC5L	126677242	1.000000	0.71417	1.000000	0.80357	0.494000	0.33585	9.790000	0.99075	2.732000	0.93576	0.655000	0.94253	TGG		0.507	ARPC5L-002	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054041.1	NM_030978		8	48	0	0	0	1	0	8	48				
ZFHX4	79776	broad.mit.edu	37	8	77775621	77775621	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr8:77775621C>G	ENST00000521891.2	+	11	10119	c.9671C>G	c.(9670-9672)tCt>tGt	p.S3224C	ZFHX4_ENST00000518282.1_Missense_Mutation_p.S3198C|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S3179C|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S3175C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3175					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAAATCTCATCTGCTCTTTCA	0.413										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(9670-9672)tCt>tGt		zinc finger homeobox 4							144.0	138.0	140.0					8																	77775621		1877	4114	5991	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77775621C>G		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.9671C>G	8.37:g.77775621C>G	ENSP00000430497:p.Ser3224Cys	HNSCC(33;0.089)				ZFHX4_ENST00000455469.2_Missense_Mutation_p.S3179C|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S3198C|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S3175C	p.S3224C	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		11	10119	+			3175					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.9671C>G	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	11.43	1.637021	0.29157	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.52526	0.66;0.71;0.69;0.69	4.71	4.71	0.59529	.	0.000000	0.42172	U	0.000743	T	0.62756	0.2454	L	0.50333	1.59	0.41027	D	0.985126	D	0.62365	0.991	D	0.64506	0.926	T	0.65533	-0.6145	10	0.62326	D	0.03	.	18.2095	0.89865	0.0:1.0:0.0:0.0	.	3179	Q86UP3-4	.	C	3224;3208;3179;3175;3198	ENSP00000430497:S3224C;ENSP00000399605:S3179C;ENSP00000050961:S3175C;ENSP00000430848:S3198C	ENSP00000050961:S3175C	S	+	2	0	ZFHX4	77938176	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.301000	0.72782	2.601000	0.87937	0.561000	0.74099	TCT		0.413	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		3	88	0	0	0	1	0	3	88				
C18orf8	29919	broad.mit.edu	37	18	21098913	21098913	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr18:21098913G>T	ENST00000269221.3	+	8	823	c.713G>T	c.(712-714)gGa>gTa	p.G238V	C18orf8_ENST00000590868.1_Missense_Mutation_p.G190V	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	238						lysosomal membrane (GO:0005765)		p.G238V(1)		endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AACAGCACAGGAGCGGAGGTG	0.438																																						ENST00000269221.3																			1	Substitution - Missense(1)	p.G238V(1)	endometrium(1)	endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21						c.(712-714)gGa>gTa		chromosome 18 open reading frame 8							159.0	153.0	155.0					18																	21098913		2203	4300	6503	SO:0001583	missense	29919							g.chr18:21098913G>T	AK057192	CCDS32803.1, CCDS74199.1	18q11.2	2013-12-13			ENSG00000141452	ENSG00000141452			24326	protein-coding gene	gene with protein product	"""colon cancer associated protein Mic1"", ""macrophage inhibitory cytokine 1"""					12477932	Standard	NM_013326		Approved	MIC1, MIC-1, HsT2591	uc021uie.2	Q96DM3		ENST00000269221.3:c.713G>T	18.37:g.21098913G>T	ENSP00000269221:p.Gly238Val					C18orf8_ENST00000590868.1_Missense_Mutation_p.G190V	p.G238V	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN			8	823	+	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)		238					Q9BU17|Q9Y5M0	Missense_Mutation	SNP	ENST00000269221.3	37	c.713G>T	CCDS32803.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.943251	0.92593	.	.	ENSG00000141452	ENST00000269221;ENST00000544799;ENST00000540942;ENST00000542734	.	.	.	5.52	5.52	0.82312	.	0.051036	0.85682	D	0.000000	T	0.75766	0.3894	M	0.71581	2.175	0.80722	D	1	D;D	0.63046	0.986;0.992	P;P	0.59825	0.734;0.864	T	0.72127	-0.4384	9	0.27785	T	0.31	-3.193	19.4282	0.94754	0.0:0.0:1.0:0.0	.	238;190	Q96DM3;F5H2W0	MIC1_HUMAN;.	V	238;81;190;81	.	ENSP00000269221:G238V	G	+	2	0	C18orf8	19352911	1.000000	0.71417	0.736000	0.30914	0.988000	0.76386	9.452000	0.97615	2.599000	0.87857	0.491000	0.48974	GGA		0.438	C18orf8-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445386.1	NM_013326		14	46	1	0	3.45872e-05	1	3.73821e-05	14	46				
TDRD6	221400	broad.mit.edu	37	6	46660093	46660093	+	Missense_Mutation	SNP	A	A	T	rs74443068	byFrequency	TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr6:46660093A>T	ENST00000316081.6	+	1	4228	c.4228A>T	c.(4228-4230)Ata>Tta	p.I1410L	TDRD6_ENST00000544460.1_Missense_Mutation_p.I1410L	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1410	Tudor 6. {ECO:0000255|PROSITE- ProRule:PRU00211}.				germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TGTTAATGCAATATTGCCGGG	0.403																																						ENST00000544460.1																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(4228-4230)Ata>Tta		tudor domain containing 6							203.0	209.0	207.0					6																	46660093		2203	4299	6502	SO:0001583	missense	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46660093A>T	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.4228A>T	6.37:g.46660093A>T	ENSP00000346065:p.Ile1410Leu					TDRD6_ENST00000316081.6_Missense_Mutation_p.I1410L	p.I1410L	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	4482	+			1410			Tudor 6.		B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	c.4228A>T	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	A	0.058	-1.230694	0.01518	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.09073	3.02;3.02	5.62	-11.2	0.00127	Tudor subgroup (1);Maternal tudor protein (1);	1.660630	0.02993	N	0.147085	T	0.00412	0.0013	N	0.00268	-1.735	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.46527	-0.9185	10	0.20046	T	0.44	-12.0227	4.3768	0.11274	0.2572:0.1755:0.4416:0.1256	.	1410;1410	F5H5M3;O60522	.;TDRD6_HUMAN	L	1410	ENSP00000443299:I1410L;ENSP00000346065:I1410L	ENSP00000346065:I1410L	I	+	1	0	TDRD6	46768052	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.308000	0.08156	-2.320000	0.00642	-0.132000	0.14878	ATA		0.403	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		94	206	0	0	0	1	0	94	206				
TTN	7273	broad.mit.edu	37	2	179530153	179530153	+	Intron	SNP	C	C	A			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr2:179530153C>A	ENST00000591111.1	-	153	34489				TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.M11998I|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Intron			Q8WZ42	TITIN_HUMAN	titin						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)			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)			CAAATATTTTCATTTCAGGGA	0.368																																						ENST00000589042.1																			0				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.(35992-35994)atG>atT		titin							260.0	260.0	260.0					2																	179530153		876	1991	2867	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179530153C>A	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.34264+4791G>T	2.37:g.179530153C>A						TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron	p.M11998I	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)		165	36218	-			10144			Pro-rich.		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.35994G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.75|10.75	1.438792|1.438792	0.25900|0.25900	.|.	.|.	ENSG00000155657|ENSG00000155657	ENST00000541862;ENST00000392423|ENST00000425332	.|.	.|.	.|.	5.5|5.5	0.762|0.762	0.18454|0.18454	.|.	.|.	.|.	.|.	.|.	T|.	0.24275|.	0.0588|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|.	0.13594|.	0.008|.	B|.	0.09377|.	0.004|.	T|.	0.23904|.	-1.0175|.	7|.	0.17369|.	T|.	0.5|.	.|.	4.363|4.363	0.11211|0.11211	0.2312:0.5377:0.1141:0.117|0.2312:0.5377:0.1141:0.117	.|.	272|.	Q71S18|.	.|.	I|L	272;124|62	.|.	ENSP00000376219:M124I|.	M|X	-|-	3|2	0|2	TTN|TTN	179238398|179238398	0.000000|0.000000	0.05858|0.05858	0.036000|0.036000	0.18154|0.18154	0.076000|0.076000	0.17211|0.17211	0.233000|0.233000	0.17911|0.17911	0.300000|0.300000	0.22699|0.22699	0.655000|0.655000	0.94253|0.94253	ATG|TGA		0.368	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		16	120	1	0	0.006122	1	0.00635975	16	120				
ALG14	199857	broad.mit.edu	37	1	95538385	95538385	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr1:95538385delC	ENST00000370205.5	-	1	116	c.70delG	c.(70-72)gtafs	p.V25fs	ALG14_ENST00000495856.1_5'UTR	NM_144988.3	NP_659425.1	Q96F25	ALG14_HUMAN	ALG14, UDP-N-acetylglucosaminyltransferase subunit	25					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	6		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.0615)|Epithelial(280;0.139)		CGAAGCACTACCCATATTCGC	0.577																																						ENST00000370205.4																			0				endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	6						c.(70-72)tafs		ALG14, UDP-N-acetylglucosaminyltransferase subunit							109.0	100.0	103.0					1																	95538385		2203	4300	6503	SO:0001589	frameshift_variant	199857				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity	g.chr1:95538385delC		CCDS752.1	1p21.3	2013-02-21	2013-02-21		ENSG00000172339	ENSG00000172339			28287	protein-coding gene	gene with protein product		612866	"""asparagine-linked glycosylation 14 homolog (yeast)"", ""asparagine-linked glycosylation 14 homolog (S. cerevisiae)"""			15615718	Standard	NM_144988		Approved	MGC19780	uc001dra.2	Q96F25	OTTHUMG00000010781	ENST00000370205.5:c.70delG	1.37:g.95538385delC	ENSP00000359224:p.Val25fs					ALG14_ENST00000495856.1_5'UTR	p.V25fs	NM_144988.3	NP_659425.1	Q96F25	ALG14_HUMAN		all cancers(265;0.0615)|Epithelial(280;0.139)	1	116	-		all_lung(203;0.0232)|Lung NSC(277;0.0739)	25					A8K030	Frame_Shift_Del	DEL	ENST00000370205.5	37	c.70delG	CCDS752.1																																																																																				0.577	ALG14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029699.2	NM_144988		9	146						9	146	---	---	---	---
TOP2B	7155	broad.mit.edu	37	3	25654130	25654130	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr3:25654130delC	ENST00000264331.4	-	28	3661	c.3662delG	c.(3661-3663)ggcfs	p.G1221fs	TOP2B_ENST00000540199.1_Frame_Shift_Del_p.G73fs|TOP2B_ENST00000475717.1_5'UTR|TOP2B_ENST00000435706.2_Frame_Shift_Del_p.G1216fs|TOP2B_ENST00000542520.1_Frame_Shift_Del_p.G73fs	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	1221					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)	p.G1216D(1)		breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	CTTAGGTTTGCCAACTTTACC	0.408																																						ENST00000435706.2																			1	Substitution - Missense(1)	p.G1216D(1)	skin(1)	breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						c.(3646-3648)gcfs		topoisomerase (DNA) II beta 180kDa							173.0	171.0	172.0					3																	25654130		1864	4091	5955	SO:0001589	frameshift_variant	7155				DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity	g.chr3:25654130delC	X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.3662delG	3.37:g.25654130delC	ENSP00000264331:p.Gly1221fs					TOP2B_ENST00000475717.1_5'UTR|TOP2B_ENST00000264331.4_Frame_Shift_Del_p.G1221fs|TOP2B_ENST00000542520.1_Frame_Shift_Del_p.G73fs|TOP2B_ENST00000540199.1_Frame_Shift_Del_p.G73fs	p.G1216fs			Q02880	TOP2B_HUMAN			28	3848	-			1221					Q13600|Q9UMG8|Q9UQP8	Frame_Shift_Del	DEL	ENST00000264331.4	37	c.3647delG																																																																																					0.408	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding				37	111						37	111	---	---	---	---
UTP15	84135	broad.mit.edu	37	5	72866487	72866502	+	Frame_Shift_Del	DEL	AGTGGAGAGTGTCCTA	AGTGGAGAGTGTCCTA	-			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr5:72866487_72866502delAGTGGAGAGTGTCCTA	ENST00000296792.4	+	6	879_894	c.624_639delAGTGGAGAGTGTCCTA	c.(622-639)ccagtggagagtgtcctafs	p.PVESVL208fs	UTP15_ENST00000543251.1_Frame_Shift_Del_p.PVESVL18fs|UTP15_ENST00000508491.1_Frame_Shift_Del_p.PVESVL189fs	NM_001284431.1|NM_032175.2	NP_001271360.1|NP_115551.2	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)	208					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		ATGGGCAGCCAGTGGAGAGTGTCCTACTTTTCCCCT	0.398																																						ENST00000296792.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15						c.(622-639)ccfs		UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)																																				SO:0001589	frameshift_variant	84135				rRNA processing	cytoplasm|nucleolus		g.chr5:72866487_72866502delAGTGGAGAGTGTCCTA	AL831972	CCDS34186.1, CCDS68893.1, CCDS68894.1	5q13.2	2013-01-10	2006-04-20		ENSG00000164338	ENSG00000164338		"""WD repeat domain containing"""	25758	protein-coding gene	gene with protein product			"""UTP15, U3 small nucleolar ribonucleoprotein, homolog (yeast)"""			12477932	Standard	NM_032175		Approved	FLJ12787, NET21, FLJ23637	uc003kcw.1	Q8TED0	OTTHUMG00000162453	ENST00000296792.4:c.624_639delAGTGGAGAGTGTCCTA	5.37:g.72866487_72866502delAGTGGAGAGTGTCCTA	ENSP00000296792:p.Pro208fs					UTP15_ENST00000508491.1_Frame_Shift_Del_p.PVESVL189fs|UTP15_ENST00000543251.1_Frame_Shift_Del_p.PVESVL18fs	p.PVESVL208fs	NM_032175.2	NP_115551.2	Q8TED0	UTP15_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)	6	879_894	+		Lung NSC(167;0.00405)|Ovarian(174;0.0129)	208					B4DU75|B4DXK8|Q6IA60|Q96E08|Q9H9F8	Frame_Shift_Del	DEL	ENST00000296792.4	37	c.624_639delAGTGGAGAGTGTCCTA	CCDS34186.1																																																																																				0.398	UTP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368965.1	NM_032175		9	162						9	162	---	---	---	---
SEMA6A	57556	broad.mit.edu	37	5	115813744	115813744	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr5:115813744delG	ENST00000343348.6	-	14	2321	c.1534delC	c.(1534-1536)cttfs	p.L512fs	CTB-118N6.3_ENST00000508640.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000257414.8_Frame_Shift_Del_p.L512fs|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000282394.6_Frame_Shift_Del_p.L44fs|SEMA6A_ENST00000510263.1_Frame_Shift_Del_p.L512fs	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	512	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell surface receptor signaling pathway (GO:0007166)|centrosome localization (GO:0051642)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|positive regulation of neuron migration (GO:2001224)|semaphorin-plexin signaling pathway (GO:0071526)	axon (GO:0030424)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CACCGGCCAAGGGGAACCTTT	0.463																																						ENST00000343348.6																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(1534-1536)ttfs		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A							154.0	147.0	149.0					5																	115813744		1999	4193	6192	SO:0001589	frameshift_variant	57556				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity	g.chr5:115813744delG	AB037789	CCDS47256.1, CCDS75288.1	5q23.1	2014-07-29			ENSG00000092421			"""Semaphorins"""	10738	protein-coding gene	gene with protein product	"""sema VIa"""	605885		SEMAQ		9204478, 10993894	Standard	XM_006714663		Approved	KIAA1368, SEMA6A1, SEMA, HT018	uc010jck.3	Q9H2E6	OTTHUMG00000162987	ENST00000343348.6:c.1534delC	5.37:g.115813744delG	ENSP00000345512:p.Leu512fs					CTB-118N6.3_ENST00000508640.1_RNA|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000510263.1_Frame_Shift_Del_p.L512fs|SEMA6A_ENST00000282394.6_Frame_Shift_Del_p.L44fs|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000257414.8_Frame_Shift_Del_p.L512fs	p.L512fs	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)	14	2321	-		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)	512			Sema.		Q9P2H9	Frame_Shift_Del	DEL	ENST00000343348.6	37	c.1534delC	CCDS47256.1																																																																																				0.463	SEMA6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371270.1	NM_020796		31	125						31	125	---	---	---	---
DMXL1	1657	broad.mit.edu	37	5	118507503	118507504	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr5:118507503_118507504insT	ENST00000311085.8	+	25	6600_6601	c.6520_6521insT	c.(6520-6522)ctgfs	p.L2174fs	DMXL1_ENST00000539542.1_Frame_Shift_Ins_p.L2174fs	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2174										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TTCTAGCCCTCTGTCAGAGCAA	0.381																																						ENST00000311085.8																			0				breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.(6520-6522)gtcfs		Dmx-like 1																																				SO:0001589	frameshift_variant	1657							g.chr5:118507503_118507504insT	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.6521dupT	5.37:g.118507504_118507504dupT	ENSP00000309690:p.Leu2174fs					DMXL1_ENST00000539542.1_Frame_Shift_Ins_p.V2174fs	p.V2174fs	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	25	6600_6601	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	2174						Frame_Shift_Ins	INS	ENST00000311085.8	37	c.6520_6521insT	CCDS4125.1																																																																																				0.381	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		52	170						52	170	---	---	---	---
CCT6P3	643180	broad.mit.edu	37	7	64528813	64528814	+	RNA	INS	-	-	T			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr7:64528813_64528814insT	ENST00000426828.1	+	0	621				SNORA15_ENST00000384334.1_RNA|SNORA22_ENST00000384614.1_RNA	NR_033416.1				chaperonin containing TCP1, subunit 6 (zeta) pseudogene 3																		CTTTCTGTAACTTTTTTTTTTT	0.317																																						ENST00000426828.1																			0																																																			0							g.chr7:64528813_64528814insT			7q11.21	2010-06-29			ENSG00000234585	ENSG00000234585			35137	pseudogene	pseudogene							Standard	NR_033416		Approved		uc010kzt.1		OTTHUMG00000156630		7.37:g.64528824_64528824dupT								NR_033416.1						0	621	+									RNA	INS	ENST00000426828.1	37																																																																																						0.317	CCT6P3-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344862.1			2	4						2	4	---	---	---	---
CACNA1H	8912	broad.mit.edu	37	16	1270653	1270653	+	Frame_Shift_Del	DEL	G	G	-	rs200606995		TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr16:1270653delG	ENST00000348261.5	+	35	6969	c.6721delG	c.(6721-6723)gggfs	p.G2242fs	CACNA1H_ENST00000358590.4_Frame_Shift_Del_p.G2236fs|CACNA1H_ENST00000565831.1_Frame_Shift_Del_p.G2236fs	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	2242					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	CTCAGGCGCCGGGGGGGACCC	0.731																																						ENST00000348261.5																			0				breast(4)|endometrium(5)|kidney(2)|lung(23)	34						c.(6721-6723)ggfs		calcium channel, voltage-dependent, T type, alpha 1H subunit	Flunarizine(DB04841)|Mibefradil(DB01388)		,	22,3310		0,22,1644	6.0	8.0	8.0		,	-6.4	0.0	16		7	58,7378		2,54,3662	no	frameshift,frameshift	CACNA1H	NM_021098.2,NM_001005407.1	,	2,76,5306	A1A1,A1R,RR		0.78,0.6603,0.7429	,	,	1270653	80,10688	1791	3948	5739	SO:0001589	frameshift_variant	8912				aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr16:1270653delG	AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.6721delG	16.37:g.1270653delG	ENSP00000334198:p.Gly2242fs					CACNA1H_ENST00000565831.1_Frame_Shift_Del_p.G2236fs|CACNA1H_ENST00000358590.4_Frame_Shift_Del_p.G2236fs	p.G2242fs	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN			35	6969	+		Hepatocellular(780;0.00369)	2242					B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Frame_Shift_Del	DEL	ENST00000348261.5	37	c.6721delG	CCDS45375.1																																																																																				0.731	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1	NM_001005407		2	4						2	4	---	---	---	---
MLLT1	4298	broad.mit.edu	37	19	6222272	6222274	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chr19:6222272_6222274delAGG	ENST00000252674.7	-	6	1131_1133	c.968_970delCCT	c.(967-972)tccttc>ttc	p.S323del		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	323	Poly-Ser.				negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						TTGTCCGAGAAGGAGGAGGAGGA	0.65			T	MLL	AL																																	ENST00000252674.7				Dom	yes		19	19p13.3	4298	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"""			L	MLL		AL		0				endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						c.(967-972)ttc>t		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1				15,4239		1,13,2113						2.5	0.9			35	38,8216		0,38,4089	no	coding	MLLT1	NM_005934.3		1,51,6202	A1A1,A1R,RR		0.4604,0.3526,0.4237				53,12455				SO:0001651	inframe_deletion	4298				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding	g.chr19:6222272_6222274delAGG		CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"""				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757	ENST00000252674.7:c.968_970delCCT	19.37:g.6222281_6222283delAGG	ENSP00000252674:p.Ser323del						p.SF323del	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN			6	1131_1133	-			323			Poly-Ser.		Q14768	In_Frame_Del	DEL	ENST00000252674.7	37	c.968_970delCCT	CCDS12160.1																																																																																				0.650	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452909.1	NM_005934		9	80						9	80	---	---	---	---
MAGEC3	139081	broad.mit.edu	37	X	140969484	140969484	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HC-8265-01A-11D-2260-08	TCGA-HC-8265-10A-01D-2260-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d96380bd-80d2-4c64-ae3f-6f886936204e	ece936c5-0f53-4010-9e99-8091c679d15b	g.chrX:140969484delC	ENST00000298296.1	+	4	811	c.811delC	c.(811-813)cccfs	p.P271fs	MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000448920.1_Intron|MAGEC3_ENST00000536088.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	271	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGGGCATGCCCCAGAACCG	0.498																																						ENST00000298296.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69						c.(811-813)ccfs		melanoma antigen family C, 3							136.0	126.0	130.0					X																	140969484		2202	4300	6502	SO:0001589	frameshift_variant	139081							g.chrX:140969484delC	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.811delC	X.37:g.140969484delC	ENSP00000298296:p.Pro271fs					MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000448920.1_Intron|MAGEC3_ENST00000443323.2_Intron	p.P271fs	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN			4	811	+	Acute lymphoblastic leukemia(192;6.56e-05)		271			MAGE 1.		Q3SYA7|Q5JZ43|Q9BZ80	Frame_Shift_Del	DEL	ENST00000298296.1	37	c.811delC	CCDS14676.1																																																																																				0.498	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		86	61						86	61	---	---	---	---
