#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
TAS1R2	80834	broad.mit.edu	37	1	19181421	19181421	+	Silent	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr1:19181421C>T	ENST00000375371.3	-	3	564	c.543G>A	c.(541-543)ctG>ctA	p.L181L	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	181					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GTGTGGTACGCAGCAAAGCCG	0.622																																						uc001bba.1																			0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(541-543)CTG>CTA		taste receptor, type 1, member 2 precursor	Aspartame(DB00168)						49.0	48.0	49.0					1																	19181421		2203	4300	6503	SO:0001819	synonymous_variant	80834				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:19181421C>T		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14905	protein-coding gene	gene with protein product		606226	"""G protein-coupled receptor 71"""	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.543G>A	1.37:g.19181421C>T							p.L181L	NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	3	544	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	181			Extracellular (Potential).		Q5TZ19	Silent	SNP	ENST00000375371.3	37	c.543G>A	CCDS187.1																																																																																				0.622	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1		
COL16A1	1307	broad.mit.edu	37	1	32126216	32126216	+	Silent	SNP	G	G	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr1:32126216G>T	ENST00000373672.3	-	62	4365	c.3849C>A	c.(3847-3849)ccC>ccA	p.P1283P	RP11-73M7.6_ENST00000609549.1_RNA|RP11-73M7.6_ENST00000607926.1_RNA|RP11-73M7.6_ENST00000587445.1_RNA|RP11-73M7.6_ENST00000609373.1_RNA|RP11-73M7.6_ENST00000609338.1_RNA|RP11-73M7.6_ENST00000585413.1_RNA|RP11-73M7.6_ENST00000591592.1_RNA|RP11-73M7.6_ENST00000608888.1_RNA|RP11-73M7.6_ENST00000591929.1_RNA|RP11-73M7.6_ENST00000593188.1_RNA|RP11-73M7.6_ENST00000610216.1_RNA|RP11-73M7.6_ENST00000610043.1_RNA|RP11-73M7.6_ENST00000609033.1_RNA|RP11-73M7.6_ENST00000585660.1_RNA|RP11-73M7.6_ENST00000608332.1_RNA|RP11-73M7.6_ENST00000588288.1_RNA|RP11-73M7.6_ENST00000445166.1_RNA|COL16A1_ENST00000271069.6_Silent_p.P1283P|RP11-73M7.6_ENST00000589462.1_RNA|RP11-73M7.6_ENST00000608246.1_RNA|RP11-73M7.6_ENST00000609625.1_RNA	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1283	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GTCTTCCCTGGGGTCCCATGG	0.547																																					Colon(143;498 1786 21362 25193 36625)	uc001btk.1																			0				ovary(8)	8						c.(3847-3849)CCC>CCA		alpha 1 type XVI collagen precursor							66.0	70.0	69.0					1																	32126216		1900	4120	6020	SO:0001819	synonymous_variant	1307				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	g.chr1:32126216G>T	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.3849C>A	1.37:g.32126216G>T						COL16A1_uc001bti.1_5'UTR|COL16A1_uc001btj.1_Silent_p.P1081P	p.P1283P	NM_001856	NP_001847	Q07092	COGA1_HUMAN		STAD - Stomach adenocarcinoma(196;0.059)	62	4214	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	1283			Triple-helical region 2 (COL2) with 2 imperfections.		Q16593|Q59F89|Q71RG9	Silent	SNP	ENST00000373672.3	37	c.3849C>A	CCDS41297.1																																																																																				0.547	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856	
DAB1	1600	broad.mit.edu	37	1	57491656	57491656	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr1:57491656G>A	ENST00000371231.1	-	11	917	c.883C>T	c.(883-885)Ccc>Tcc	p.P295S	DAB1_ENST00000439789.2_Missense_Mutation_p.P176S|DAB1_ENST00000371234.4_Missense_Mutation_p.P262S|DAB1_ENST00000414851.2_Missense_Mutation_p.P244S|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371236.2_Missense_Mutation_p.P262S|DAB1_ENST00000420954.2_Missense_Mutation_p.P260S			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	295				P -> S (in Ref. 6; AAH67447). {ECO:0000305}.	adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						ATACTTACGGGGGGAGAGGTT	0.463																																						uc001cys.1																			0				skin(2)|ovary(1)	3						c.(784-786)CCC>TCC		disabled homolog 1							125.0	131.0	129.0					1																	57491656		2203	4300	6503	SO:0001583	missense	1600				cell differentiation|nervous system development			g.chr1:57491656G>A	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.883C>T	1.37:g.57491656G>A	ENSP00000360275:p.Pro295Ser					DAB1_uc001cyt.1_Missense_Mutation_p.P260S|DAB1_uc001cyq.1_Missense_Mutation_p.P260S|DAB1_uc001cyr.1_Missense_Mutation_p.P176S|DAB1_uc009vzw.1_Missense_Mutation_p.P244S|DAB1_uc009vzx.1_Missense_Mutation_p.P262S	p.P262S	NM_021080	NP_066566	O75553	DAB1_HUMAN			12	1458	-			295	P -> S (in Ref. 6; AAH67447).				A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Missense_Mutation	SNP	ENST00000371231.1	37	c.784C>T		.	.	.	.	.	.	.	.	.	.	G	6.334	0.429802	0.11987	.	.	ENSG00000173406	ENST00000371236;ENST00000371233;ENST00000371234;ENST00000420954;ENST00000414851;ENST00000439789;ENST00000371231;ENST00000371232	T;T;T;T;T;T;T	0.43294	1.03;1.03;0.95;1.03;2.04;1.03;0.99	5.65	5.65	0.86999	.	0.163733	0.56097	D	0.000027	T	0.12987	0.0315	N	0.00436	-1.5	0.36268	D	0.854988	B;B;B;B;B	0.20780	0.048;0.0;0.028;0.035;0.0	B;B;B;B;B	0.23419	0.046;0.001;0.015;0.013;0.003	T	0.32268	-0.9913	10	0.07813	T	0.8	-50.743	12.9811	0.58564	0.0749:0.0:0.9251:0.0	.	244;295;262;176;260	O75553-4;O75553;O75553-6;O75553-3;O75553-5	.;DAB1_HUMAN;.;.;.	S	262;262;262;260;244;176;295;176	ENSP00000360280:P262S;ENSP00000360278:P262S;ENSP00000395296:P260S;ENSP00000387581:P244S;ENSP00000409328:P176S;ENSP00000360275:P295S;ENSP00000360276:P176S	ENSP00000360275:P295S	P	-	1	0	DAB1	57264244	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	5.226000	0.65299	2.826000	0.97356	0.563000	0.77884	CCC		0.463	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080	
HFM1	164045	broad.mit.edu	37	1	91846537	91846537	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr1:91846537C>T	ENST00000370425.3	-	7	903	c.805G>A	c.(805-807)Gca>Aca	p.A269T	HFM1_ENST00000370424.3_Intron|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	269					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.A269T(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CTAAATTTTGCCGCTTACAAT	0.219																																						uc001doa.3																			1	Substitution - Missense(1)		kidney(1)		0						c.(805-807)GCA>ACA		HFM1 protein							54.0	63.0	60.0					1																	91846537		2194	4294	6488	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91846537C>T	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.805G>A	1.37:g.91846537C>T	ENSP00000359454:p.Ala269Thr					HFM1_uc010osu.1_Intron|HFM1_uc010osv.1_Intron|HFM1_uc001doc.1_Missense_Mutation_p.A269T	p.A269T	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	7	905	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	269					B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.805G>A	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	C	9.307	1.054465	0.19907	.	.	ENSG00000162669	ENST00000370425;ENST00000541820;ENST00000448819	T	0.58797	0.31	5.81	2.87	0.33458	.	0.000000	0.45606	U	0.000360	T	0.29093	0.0723	L	0.54323	1.7	0.80722	D	1	B;B	0.15719	0.014;0.002	B;B	0.08055	0.003;0.003	T	0.09100	-1.0690	10	0.23891	T	0.37	.	8.468	0.32969	0.0:0.5885:0.0:0.4115	.	269;269	B7ZM16;A2PYH4	.;HFM1_HUMAN	T	269;302;128	ENSP00000359454:A269T	ENSP00000359454:A269T	A	-	1	0	HFM1	91619125	0.079000	0.21365	0.903000	0.35520	0.987000	0.75469	0.529000	0.23019	0.339000	0.23719	-0.136000	0.14681	GCA		0.219	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975	
CCDC18	343099	broad.mit.edu	37	1	93649564	93649564	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr1:93649564C>T	ENST00000343253.7	+	3	666	c.164C>T	c.(163-165)gCc>gTc	p.A55V	CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000338949.4_5'UTR|CCDC18_ENST00000401026.3_Missense_Mutation_p.A55V|CCDC18_ENST00000557479.1_Missense_Mutation_p.A173V			Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	55										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TCTGATTATGCCCCTAATCCT	0.323																																						uc001dpq.2																			0				ovary(2)|breast(2)|pancreas(1)	5						c.(517-519)GCC>GTC		sarcoma antigen NY-SAR-41							135.0	124.0	128.0					1																	93649564		1817	4079	5896	SO:0001583	missense	343099							g.chr1:93649564C>T			1p22.1	2008-02-05			ENSG00000122483	ENSG00000122483			30370	protein-coding gene	gene with protein product						12601173	Standard	XM_006710609		Approved	NY-SAR-41	uc021opx.1	Q5T9S5	OTTHUMG00000010598	ENST00000343253.7:c.164C>T	1.37:g.93649564C>T	ENSP00000343377:p.Ala55Val						p.A173V	NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)	3	686	+		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)	55					Q6ZU17	Missense_Mutation	SNP	ENST00000343253.7	37	c.518C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.65|10.65	1.409019|1.409019	0.25378|0.25378	.|.	.|.	ENSG00000122483|ENSG00000122483	ENST00000343253;ENST00000401026;ENST00000557479|ENST00000370276	.|.	.|.	.|.	6.02|6.02	1.76|1.76	0.24704|0.24704	.|.	0.970833|.	0.08508|.	N|.	0.935394|.	T|T	0.02418|0.02418	0.0074|0.0074	N|N	0.02539|0.02539	-0.55|-0.55	0.09310|0.09310	N|N	0.999996|0.999996	B|.	0.06786|.	0.001|.	B|.	0.08055|.	0.003|.	T|T	0.39981|0.39981	-0.9587|-0.9587	9|5	0.05620|.	T|.	0.96|.	.|.	1.3244|1.3244	0.02123|0.02123	0.1476:0.4085:0.2312:0.2127|0.1476:0.4085:0.2312:0.2127	.|.	173|.	G3V388|.	.|.	V|S	55;55;173|109	.|.	ENSP00000343377:A55V|.	A|P	+|+	2|1	0|0	CCDC18|CCDC18	93422152|93422152	0.000000|0.000000	0.05858|0.05858	0.498000|0.498000	0.27564|0.27564	0.834000|0.834000	0.47266|0.47266	-0.286000|-0.286000	0.08399|0.08399	0.793000|0.793000	0.33875|0.33875	0.591000|0.591000	0.81541|0.81541	GCC|CCC		0.323	CCDC18-008	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000382327.1	NM_206886	
PHGDH	26227	broad.mit.edu	37	1	120285535	120285535	+	Missense_Mutation	SNP	C	C	G			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr1:120285535C>G	ENST00000369409.4	+	11	1451	c.1315C>G	c.(1315-1317)Caa>Gaa	p.Q439E	PHGDH_ENST00000482968.1_3'UTR|PHGDH_ENST00000369407.3_Missense_Mutation_p.Q405E	NM_006623.3	NP_006614.2	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	439					brain development (GO:0007420)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|G1 to G0 transition (GO:0070314)|gamma-aminobutyric acid metabolic process (GO:0009448)|glial cell development (GO:0021782)|glutamine metabolic process (GO:0006541)|glycine metabolic process (GO:0006544)|L-serine biosynthetic process (GO:0006564)|neural tube development (GO:0021915)|neuron projection development (GO:0031175)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|taurine metabolic process (GO:0019530)|threonine metabolic process (GO:0006566)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|phosphoglycerate dehydrogenase activity (GO:0004617)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)		GGGCTTGGTCCAAGGCACTAC	0.657																																						uc001ehz.2																			0				ovary(1)	1						c.(1315-1317)CAA>GAA		phosphoglycerate dehydrogenase	NADH(DB00157)						54.0	56.0	55.0					1																	120285535		2203	4300	6503	SO:0001583	missense	26227				brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity	g.chr1:120285535C>G	BC011262	CCDS904.1	1p12	2008-02-05			ENSG00000092621	ENSG00000092621	1.1.1.95		8923	protein-coding gene	gene with protein product		606879					Standard	NM_006623		Approved	SERA, PGDH, PDG	uc001ehz.3	O43175	OTTHUMG00000012100	ENST00000369409.4:c.1315C>G	1.37:g.120285535C>G	ENSP00000358417:p.Gln439Glu					PHGDH_uc009whm.2_Missense_Mutation_p.Q337E|PHGDH_uc001eia.2_Missense_Mutation_p.Q438E|PHGDH_uc009whn.2_Intron|PHGDH_uc001eib.2_Missense_Mutation_p.Q405E|PHGDH_uc001eic.2_RNA	p.Q439E	NM_006623	NP_006614	O43175	SERA_HUMAN		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	11	1542	+	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)	439					B2RD08|Q5SZU3|Q9BQ01	Missense_Mutation	SNP	ENST00000369409.4	37	c.1315C>G	CCDS904.1	.	.	.	.	.	.	.	.	.	.	.	13.90	2.374861	0.42105	.	.	ENSG00000092621	ENST00000369409;ENST00000537497;ENST00000369407	D;D	0.85702	-2.02;-2.02	5.96	5.96	0.96718	.	0.226223	0.48767	N	0.000169	T	0.79399	0.4439	M	0.64997	1.995	0.42602	D	0.993287	B;B;P;P	0.44044	0.304;0.304;0.825;0.555	B;B;B;B	0.40375	0.079;0.079;0.327;0.12	T	0.80313	-0.1435	10	0.39692	T	0.17	-5.8613	15.8929	0.79315	0.0:1.0:0.0:0.0	.	405;405;312;439	B3KSC3;Q5SZU1;F5H634;O43175	.;.;.;SERA_HUMAN	E	439;312;405	ENSP00000358417:Q439E;ENSP00000358415:Q405E	ENSP00000358415:Q405E	Q	+	1	0	PHGDH	120087058	1.000000	0.71417	0.996000	0.52242	0.089000	0.18198	5.374000	0.66167	2.813000	0.96785	0.655000	0.94253	CAA		0.657	PHGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033464.1	NM_006623	
THBS3	7059	broad.mit.edu	37	1	155170717	155170719	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr1:155170717_155170719delCAT	ENST00000368378.3	-	13	1537_1539	c.1517_1519delATG	c.(1516-1521)gatgct>gct	p.D506del	RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000541990.1_In_Frame_Del_p.D35del|RP11-263K19.4_ENST00000422665.1_RNA|RP11-263K19.4_ENST00000454348.1_RNA|RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000541576.1_De_novo_Start_InFrame|RP11-263K19.4_ENST00000436772.1_RNA|THBS3_ENST00000486260.1_5'UTR|THBS3_ENST00000457183.2_In_Frame_Del_p.D386del|RP11-263K19.4_ENST00000430312.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	506					bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCCCCATCAGCATCATCATCACA	0.542																																						uc001fix.2																			0				breast(3)|ovary(2)	5						c.(1516-1521)GATGCT>GCT		thrombospondin 3 precursor																																				SO:0001651	inframe_deletion	7059				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity	g.chr1:155170717_155170719delCAT	L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.1517_1519delATG	1.37:g.155170723_155170725delCAT	ENSP00000357362:p.Asp506del					RAG1AP1_uc010pey.1_Intron|THBS3_uc009wqi.2_In_Frame_Del_p.D497del|THBS3_uc001fiz.2_In_Frame_Del_p.D469del|THBS3_uc001fiy.2_In_Frame_Del_p.D35del|THBS3_uc010pfu.1_In_Frame_Del_p.D386del|THBS3_uc010pfv.1_RNA|THBS3_uc001fja.2_RNA	p.D506del	NM_007112	NP_009043	P49746	TSP3_HUMAN	Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		13	1540_1542	-	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		506			TSP type-3 2.		B1AVR8|B4DQ20|Q8WV34	In_Frame_Del	DEL	ENST00000368378.3	37	c.1517_1519delATG	CCDS1099.1																																																																																				0.542	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086856.1	NM_007112	
YY1AP1	55249	broad.mit.edu	37	1	155629578	155629578	+	Missense_Mutation	SNP	C	C	G			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr1:155629578C>G	ENST00000295566.4	-	11	2284	c.2261G>C	c.(2260-2262)gGa>gCa	p.G754A	YY1AP1_ENST00000311573.5_Missense_Mutation_p.G677A|YY1AP1_ENST00000355499.4_Missense_Mutation_p.G708A|YY1AP1_ENST00000368340.5_Missense_Mutation_p.G826A|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000535662.1_Missense_Mutation_p.G554A|YY1AP1_ENST00000368339.5_Missense_Mutation_p.G846A|YY1AP1_ENST00000359205.5_Missense_Mutation_p.G697A|YY1AP1_ENST00000404643.1_Missense_Mutation_p.G688A|YY1AP1_ENST00000368330.2_Missense_Mutation_p.G708A|YY1AP1_ENST00000361831.5_Missense_Mutation_p.G697A|YY1AP1_ENST00000407221.1_Missense_Mutation_p.G677A|YY1AP1_ENST00000347088.5_Missense_Mutation_p.G708A	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	754					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					AGCTTGCCTTCCCTCCTCTGT	0.527																																						uc001fln.2																			0				ovary(2)|skin(1)	3						c.(2260-2262)GGA>GCA		YY1-associated protein isoform 2							131.0	121.0	124.0					1																	155629578		2203	4300	6503	SO:0001583	missense	55249				regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	g.chr1:155629578C>G	BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.2261G>C	1.37:g.155629578C>G	ENSP00000295566:p.Gly754Ala					YY1AP1_uc001flg.2_Missense_Mutation_p.G493A|YY1AP1_uc010pgg.1_Missense_Mutation_p.G593A|YY1AP1_uc010pgh.1_Missense_Mutation_p.G697A|YY1AP1_uc010pgi.1_Missense_Mutation_p.G846A|YY1AP1_uc001flh.2_Missense_Mutation_p.G826A|YY1AP1_uc009wqt.2_Missense_Mutation_p.G677A|YY1AP1_uc001flk.2_Missense_Mutation_p.G697A|YY1AP1_uc001fll.2_Missense_Mutation_p.G708A|YY1AP1_uc009wqv.2_Missense_Mutation_p.G425A|YY1AP1_uc001flm.2_Missense_Mutation_p.G697A|YY1AP1_uc001fli.2_Missense_Mutation_p.G708A|YY1AP1_uc009wqu.2_Missense_Mutation_p.G541A|YY1AP1_uc001flj.2_Missense_Mutation_p.G688A|YY1AP1_uc009wqw.2_Missense_Mutation_p.G677A|YY1AP1_uc001flo.2_Missense_Mutation_p.G642A|YY1AP1_uc001flp.2_Missense_Mutation_p.G708A	p.G754A	NM_139118	NP_620829	Q9H869	YYAP1_HUMAN			11	2285	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)		754					B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Missense_Mutation	SNP	ENST00000295566.4	37	c.2261G>C	CCDS1115.1	.	.	.	.	.	.	.	.	.	.	c	15.65	2.896635	0.52121	.	.	ENSG00000163374	ENST00000359205;ENST00000355499;ENST00000311573;ENST00000347088;ENST00000361831;ENST00000368340;ENST00000295566;ENST00000368330;ENST00000407221;ENST00000404643;ENST00000368339;ENST00000535662	T;T;T;T;T;T;T;T;T;T;T;T	0.34072	1.48;1.48;1.56;1.48;1.48;1.46;1.52;1.48;1.56;1.55;1.38;1.58	2.57	1.63	0.23807	.	0.376587	0.25875	N	0.027732	T	0.34948	0.0915	L	0.56769	1.78	0.23550	N	0.99744	P;D;D;D;D	0.61697	0.817;0.977;0.99;0.971;0.99	P;P;D;P;P	0.72625	0.451;0.718;0.978;0.641;0.819	T	0.09596	-1.0667	10	0.72032	D	0.01	.	7.3926	0.26919	0.0:0.8668:0.0:0.1332	.	846;688;754;708;826	B4DMP2;Q9H869-4;Q9H869;Q9H869-2;Q5VYZ1	.;.;YYAP1_HUMAN;.;.	A	697;708;677;708;697;826;754;708;677;688;846;554	ENSP00000352134:G697A;ENSP00000347686:G708A;ENSP00000311138:G677A;ENSP00000316079:G708A;ENSP00000355298:G697A;ENSP00000357324:G826A;ENSP00000295566:G754A;ENSP00000357314:G708A;ENSP00000385791:G677A;ENSP00000385390:G688A;ENSP00000357323:G846A;ENSP00000437926:G554A	ENSP00000295566:G754A	G	-	2	0	YY1AP1	153896202	0.001000	0.12720	0.290000	0.24890	0.406000	0.30931	0.625000	0.24477	0.400000	0.25396	0.313000	0.20887	GGA		0.527	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1	NM_139118	
CFHR3	10878	broad.mit.edu	37	1	196749091	196749091	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr1:196749091T>C	ENST00000367425.4	+	3	510	c.418T>C	c.(418-420)Tgc>Cgc	p.C140R	CFHR3_ENST00000391985.3_Missense_Mutation_p.C140R|CFHR3_ENST00000471440.2_Missense_Mutation_p.C140R	NM_021023.5	NP_066303.2	Q02985	FHR3_HUMAN	complement factor H-related 3	140	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						TACTCCCAGATGCATCCGTGT	0.493																																						uc001gtl.2																			0					0						c.(418-420)TGC>CGC		complement factor H-related 3 precursor							87.0	85.0	86.0					1																	196749091		1906	4137	6043	SO:0001583	missense	10878					extracellular space		g.chr1:196749091T>C	X68679	CCDS30958.1, CCDS53453.1	1q32	2014-09-17		2006-02-28	ENSG00000116785	ENSG00000116785		"""Complement system"""	16980	protein-coding gene	gene with protein product	"""complement factor H related 3"""	605336		CFHL3		8428964, 10380701	Standard	NM_021023		Approved	FHR-3, HLF4, FHR3, DOWN16	uc001gtl.3	Q02985	OTTHUMG00000035929	ENST00000367425.4:c.418T>C	1.37:g.196749091T>C	ENSP00000356395:p.Cys140Arg					CFHR3_uc001gtk.2_Missense_Mutation_p.C140R|CFHR3_uc010poy.1_Missense_Mutation_p.C140R|CFHR1_uc001gtm.2_Intron	p.C140R	NM_021023	NP_066303	Q02985	FHR3_HUMAN			3	505	+			140			Sushi 2.		B4DPR0|Q9UJ16	Missense_Mutation	SNP	ENST00000367425.4	37	c.418T>C	CCDS30958.1	.	.	.	.	.	.	.	.	.	.	.	14.10	2.434387	0.43224	.	.	ENSG00000116785	ENST00000367425;ENST00000471440;ENST00000391985;ENST00000542253	D;D;D	0.99778	-6.73;-6.73;-6.73	3.67	3.67	0.42095	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.99829	0.9923	H	0.96720	3.87	0.30394	N	0.780746	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;1.0;0.998	D	0.97060	0.9770	9	0.87932	D	0	.	9.0557	0.36403	0.0:0.0:0.0:1.0	.	140;140;140	B4DPR0;Q02985;Q6NSD3	.;FHR3_HUMAN;.	R	140	ENSP00000356395:C140R;ENSP00000436258:C140R;ENSP00000375845:C140R	ENSP00000356395:C140R	C	+	1	0	CFHR3	195015714	0.914000	0.31030	0.138000	0.22173	0.014000	0.08584	3.273000	0.51623	1.459000	0.47892	0.327000	0.21459	TGC		0.493	CFHR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087505.2	NM_021023	
CFHR3	10878	broad.mit.edu	37	1	196749101	196749101	+	Missense_Mutation	SNP	T	T	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr1:196749101T>A	ENST00000367425.4	+	3	520	c.428T>A	c.(427-429)gTc>gAc	p.V143D	CFHR3_ENST00000391985.3_Missense_Mutation_p.V143D|CFHR3_ENST00000471440.2_Missense_Mutation_p.V143D	NM_021023.5	NP_066303.2	Q02985	FHR3_HUMAN	complement factor H-related 3	143				V -> D (in Ref. 1; CAA48639). {ECO:0000305}.		blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						TGCATCCGTGTCAGTAAGTAC	0.478																																						uc001gtl.2																			0					0						c.(427-429)GTC>GAC		complement factor H-related 3 precursor							80.0	79.0	80.0					1																	196749101		1904	4138	6042	SO:0001583	missense	10878					extracellular space		g.chr1:196749101T>A	X68679	CCDS30958.1, CCDS53453.1	1q32	2014-09-17		2006-02-28	ENSG00000116785	ENSG00000116785		"""Complement system"""	16980	protein-coding gene	gene with protein product	"""complement factor H related 3"""	605336		CFHL3		8428964, 10380701	Standard	NM_021023		Approved	FHR-3, HLF4, FHR3, DOWN16	uc001gtl.3	Q02985	OTTHUMG00000035929	ENST00000367425.4:c.428T>A	1.37:g.196749101T>A	ENSP00000356395:p.Val143Asp					CFHR3_uc001gtk.2_Missense_Mutation_p.V143D|CFHR3_uc010poy.1_Missense_Mutation_p.V143D|CFHR1_uc001gtm.2_Intron	p.V143D	NM_021023	NP_066303	Q02985	FHR3_HUMAN			3	515	+			143	V -> D (in Ref. 1; CAA48639).				B4DPR0|Q9UJ16	Missense_Mutation	SNP	ENST00000367425.4	37	c.428T>A	CCDS30958.1	.	.	.	.	.	.	.	.	.	.	t	14.32	2.500015	0.44455	.	.	ENSG00000116785	ENST00000367425;ENST00000471440;ENST00000391985;ENST00000542253	T;T;T	0.75260	0.57;0.57;-0.92	3.67	-3.1	0.05315	Complement control module (1);	.	.	.	.	T	0.69242	0.3089	L	0.40543	1.245	0.09310	N	1	P;D;D	0.69078	0.766;0.997;0.989	P;D;P	0.65987	0.663;0.94;0.612	T	0.59553	-0.7433	9	0.15499	T	0.54	.	0.5646	0.00685	0.1701:0.2192:0.1744:0.4364	.	143;143;143	B4DPR0;Q02985;Q6NSD3	.;FHR3_HUMAN;.	D	143	ENSP00000356395:V143D;ENSP00000436258:V143D;ENSP00000375845:V143D	ENSP00000356395:V143D	V	+	2	0	CFHR3	195015724	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.513000	0.06305	-0.345000	0.08325	-1.003000	0.02500	GTC		0.478	CFHR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087505.2	NM_021023	
OR2G2	81470	broad.mit.edu	37	1	247752159	247752159	+	Silent	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr1:247752159C>T	ENST00000320065.1	+	1	498	c.498C>T	c.(496-498)acC>acT	p.T166T	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T166T(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CCACCCTCACCCTGCAGCTGC	0.542																																						uc010pyy.1																			1	Substitution - coding silent(1)		endometrium(1)		0						c.(496-498)ACC>ACT		olfactory receptor, family 2, subfamily G,							191.0	174.0	180.0					1																	247752159		2203	4300	6503	SO:0001819	synonymous_variant	81470				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247752159C>T	BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"""GPCR / Class A : Olfactory receptors"""	15007	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily G, member 2"", ""olfactory receptor, family 2, subfamily G, member 2 pseudogene"""				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.498C>T	1.37:g.247752159C>T							p.T166T	NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	498	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		166			Extracellular (Potential).		Q5JQT2|Q6IEZ0	Silent	SNP	ENST00000320065.1	37	c.498C>T	CCDS31092.1																																																																																				0.542	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1		
PDCD11	22984	broad.mit.edu	37	10	105176336	105176336	+	Missense_Mutation	SNP	A	A	G			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr10:105176336A>G	ENST00000369797.3	+	13	1701	c.1607A>G	c.(1606-1608)tAt>tGt	p.Y536C		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	536					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		ATTACCTGCTATGCCGATGCC	0.493											OREG0020494	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001kwy.1																			0				ovary(2)|breast(2)|skin(2)|central_nervous_system(1)	7						c.(1606-1608)TAT>TGT		programmed cell death 11							169.0	147.0	155.0					10																	105176336		2203	4300	6503	SO:0001583	missense	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105176336A>G	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.1607A>G	10.37:g.105176336A>G	ENSP00000358812:p.Tyr536Cys		OREG0020494	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1387		p.Y536C	NM_014976	NP_055791	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	13	1694	+		Colorectal(252;0.0747)|Breast(234;0.128)	536					Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	ENST00000369797.3	37	c.1607A>G	CCDS31276.1	.	.	.	.	.	.	.	.	.	.	A	10.97	1.501781	0.26949	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.18016	2.24	5.36	4.22	0.49857	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	0.179830	0.50627	D	0.000117	T	0.43897	0.1268	M	0.89214	3.015	0.46701	D	0.999162	D	0.71674	0.998	D	0.67900	0.954	T	0.46289	-0.9202	10	0.62326	D	0.03	-10.4964	10.0247	0.42063	0.7307:0.0:0.0:0.2693	.	536	Q14690	RRP5_HUMAN	C	536	ENSP00000358812:Y536C	ENSP00000358812:Y536C	Y	+	2	0	PDCD11	105166326	1.000000	0.71417	0.900000	0.35374	0.001000	0.01503	4.706000	0.61845	0.964000	0.38108	-0.403000	0.06358	TAT		0.493	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1		
KIAA1598	57698	broad.mit.edu	37	10	118671332	118671332	+	Missense_Mutation	SNP	T	T	G			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr10:118671332T>G	ENST00000355371.4	-	14	1825	c.1328A>C	c.(1327-1329)gAa>gCa	p.E443A	KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000392903.2_Missense_Mutation_p.E443A|KIAA1598_ENST00000260777.10_Missense_Mutation_p.E443A|KIAA1598_ENST00000392901.4_Missense_Mutation_p.E383A	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	443					axon guidance (GO:0007411)|regulation of establishment of cell polarity (GO:2000114)|regulation of neuron migration (GO:2001222)	axonal growth cone (GO:0044295)				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		CACTGCACTTTCGCAGCCTTT	0.299																																						uc009xyw.2																			0					0						c.(1327-1329)GAA>GCA		shootin1 isoform a							77.0	78.0	78.0					10																	118671332		2202	4299	6501	SO:0001583	missense	57698				axon guidance	axon		g.chr10:118671332T>G	BC022348	CCDS31293.1, CCDS44482.1, CCDS58097.1, CCDS73207.1, CCDS73208.1	10q26.12	2007-01-30			ENSG00000187164	ENSG00000187164			29319	protein-coding gene	gene with protein product		611171				10997877, 17030985	Standard	NM_001127211		Approved	shootin1, shootin-1	uc009xyw.4	A0MZ66	OTTHUMG00000019114	ENST00000355371.4:c.1328A>C	10.37:g.118671332T>G	ENSP00000347532:p.Glu443Ala					KIAA1598_uc001lcz.3_Missense_Mutation_p.E443A|KIAA1598_uc010qso.1_Missense_Mutation_p.E383A|KIAA1598_uc010qsp.1_Missense_Mutation_p.E443A|KIAA1598_uc010qsq.1_Missense_Mutation_p.E383A|KIAA1598_uc001lcy.3_Missense_Mutation_p.E413A	p.E443A	NM_001127211	NP_001120683	A0MZ66	SHOT1_HUMAN		all cancers(201;0.00494)	14	1826	-			443					A8MYU7|B3KRD3|B3KRH2|B3KTE0|B3KTJ7|B3KTJ8|B4E3U1|B7Z7Z9|Q68DG1|Q6PIM5|Q9HCH4|Q9NUV0	Missense_Mutation	SNP	ENST00000355371.4	37	c.1328A>C	CCDS44482.1	.	.	.	.	.	.	.	.	.	.	T	17.74	3.463388	0.63513	.	.	ENSG00000187164	ENST00000392903;ENST00000260777;ENST00000355371;ENST00000392901	.	.	.	5.98	5.98	0.97165	.	0.208646	0.49916	D	0.000123	T	0.64538	0.2607	L	0.50333	1.59	0.42474	D	0.992836	P;B;P	0.51791	0.868;0.447;0.948	B;B;P	0.52823	0.443;0.158;0.71	T	0.67803	-0.5576	9	0.66056	D	0.02	-15.1083	15.0492	0.71854	0.0:0.0:0.0:1.0	.	443;443;413	A0MZ66;A0MZ66-2;A0MZ66-6	SHOT1_HUMAN;.;.	A	443;443;443;383	.	ENSP00000260777:E443A	E	-	2	0	KIAA1598	118661322	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	4.928000	0.63447	2.288000	0.76882	0.528000	0.53228	GAA		0.299	KIAA1598-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018330	
CPXM2	119587	broad.mit.edu	37	10	125506512	125506512	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr10:125506512C>T	ENST00000241305.3	-	14	2193	c.2039G>A	c.(2038-2040)cGc>cAc	p.R680H	CPXM2_ENST00000368854.3_Intron	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	680					cell adhesion (GO:0007155)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GTTCAGGAGGCGCCAGTAATC	0.547																																						uc001lhk.1																			0				ovary(2)	2						c.(2038-2040)CGC>CAC		carboxypeptidase X (M14 family), member 2							163.0	170.0	168.0					10																	125506512		2203	4300	6503	SO:0001583	missense	119587				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	g.chr10:125506512C>T	AY358565	CCDS7637.1	10q26	2012-02-10			ENSG00000121898	ENSG00000121898			26977	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase"""					12975309	Standard	NM_198148		Approved	UNQ676, CPX2	uc001lhk.1	Q8N436	OTTHUMG00000019206	ENST00000241305.3:c.2039G>A	10.37:g.125506512C>T	ENSP00000241305:p.Arg680His					CPXM2_uc001lhj.2_Intron	p.R680H	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)	14	2364	-		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)	680					B4E3Q2	Missense_Mutation	SNP	ENST00000241305.3	37	c.2039G>A	CCDS7637.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.438426	0.83885	.	.	ENSG00000121898	ENST00000241305;ENST00000540123;ENST00000418782	T	0.42513	0.97	4.74	3.85	0.44370	Peptidase M14, carboxypeptidase A (1);Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.000000	0.85682	D	0.000000	T	0.71256	0.3318	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.79344	-0.1842	10	0.87932	D	0	-24.9878	12.9746	0.58531	0.0:0.9218:0.0:0.0782	.	680	Q8N436	CPXM2_HUMAN	H	680;513;655	ENSP00000241305:R680H	ENSP00000241305:R680H	R	-	2	0	CPXM2	125496502	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	7.645000	0.83430	1.214000	0.43395	-0.136000	0.14681	CGC		0.547	CPXM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050853.1	NM_198148	
HPS5	11234	broad.mit.edu	37	11	18309168	18309168	+	Silent	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr11:18309168C>T	ENST00000349215.3	-	18	2908	c.2631G>A	c.(2629-2631)tcG>tcA	p.S877S	HPS5_ENST00000537258.1_5'Flank|HPS5_ENST00000438420.2_Silent_p.S763S|HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000396253.3_Silent_p.S763S	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	877					blood coagulation (GO:0007596)|organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GTATGATATCCGATGGCAAAA	0.408									Hermansky-Pudlak syndrome																													uc001mod.1																			0				ovary(1)|pancreas(1)|skin(1)	3						c.(2629-2631)TCG>TCA		Hermansky-Pudlak syndrome 5 isoform a							99.0	96.0	97.0					11																	18309168		2199	4293	6492	SO:0001819	synonymous_variant	11234	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8		cytosol		g.chr11:18309168C>T	AB023234	CCDS7836.1, CCDS7837.1	11p14	2014-06-18			ENSG00000110756	ENSG00000110756			17022	protein-coding gene	gene with protein product		607521				10231032, 10094488	Standard	NM_181507		Approved		uc001mod.1	Q9UPZ3	OTTHUMG00000166612	ENST00000349215.3:c.2631G>A	11.37:g.18309168C>T						HPS5_uc001moe.1_Silent_p.S763S|HPS5_uc001mof.1_Silent_p.S763S	p.S877S	NM_181507	NP_852608	Q9UPZ3	HPS5_HUMAN			18	2909	-			877					A8K6J8|A8K8S1|D3DQX9|D3DQY0|O95942|Q8N4U0	Silent	SNP	ENST00000349215.3	37	c.2631G>A	CCDS7836.1																																																																																				0.408	HPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390808.1	NM_181507	
SLC5A12	159963	broad.mit.edu	37	11	26708091	26708091	+	Splice_Site	DEL	C	C	-			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr11:26708091delC	ENST00000396005.3	-	10	1463	c.1154delG	c.(1153-1155)tgt>tt	p.C385fs		NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	385					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						AAATAAGAGACCTGAAAGAAA	0.453																																						uc001mra.2																			0				ovary(1)|skin(1)	2						c.(1153-1155)TGTfs		solute carrier family 5 (sodium/glucose							103.0	103.0	103.0					11																	26708091		1955	4146	6101	SO:0001630	splice_region_variant	159963				sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	g.chr11:26708091delC	BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"""Solute carriers"""	28750	protein-coding gene	gene with protein product		612455	"""solute carrier family 5 (sodium/glucose cotransporter), member 12"""			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.1154-1G>-	11.37:g.26708091delC						SLC5A12_uc001mrb.2_RNA	p.C385fs	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN			10	1467	-			385			Cytoplasmic (Potential).		Q86UC7	Frame_Shift_Del	DEL	ENST00000396005.3	37	c.1154delG	CCDS7860.2																																																																																				0.453	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498	Frame_Shift_Del
EXT2	2132	broad.mit.edu	37	11	44129545	44129545	+	Missense_Mutation	SNP	C	C	T	rs376292686	byFrequency	TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr11:44129545C>T	ENST00000343631.3	+	2	412	c.283C>T	c.(283-285)Cgc>Tgc	p.R95C	EXT2_ENST00000533608.1_Missense_Mutation_p.R95C|EXT2_ENST00000395673.3_Missense_Mutation_p.R128C|EXT2_ENST00000358681.4_Missense_Mutation_p.R95C			Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	95					carbohydrate metabolic process (GO:0005975)|cell differentiation (GO:0030154)|cellular polysaccharide biosynthetic process (GO:0033692)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm formation (GO:0001707)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|transferase activity, transferring glycosyl groups (GO:0016757)	p.R95C(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						TGATGTCTATCGCTGTGGCTT	0.512			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses				C|||	2	0.000399361	0.0015	0.0	5008	,	,		22512	0.0		0.0	False		,,,				2504	0.0					uc001mxz.2			yes	Rec		Multiple Exostoses Type 2	11	11p12-p11	2132	Mis|N|F|S	multiple exostoses type 2 gene			M		exostoses|osteosarcoma			1	Substitution - Missense(1)		skin(1)	lung(2)|breast(2)|skin(1)	5						c.(283-285)CGC>TGC		exostosin 2 isoform 2		C	CYS/ARG,CYS/ARG,CYS/ARG	0,4406		0,0,2203	91.0	78.0	82.0		382,283,283	5.4	1.0	11		82	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	EXT2	NM_000401.3,NM_001178083.1,NM_207122.1	180,180,180	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging	128/752,95/729,95/719	44129545	2,13004	2203	4300	6503	SO:0001583	missense	2132	Hereditary_Multiple_Exostoses	Familial Cancer Database	HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	g.chr11:44129545C>T		CCDS7908.1, CCDS53618.1, CCDS53619.1	11p12-p11	2014-09-17	2013-03-01		ENSG00000151348	ENSG00000151348	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3513	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608210	"""exostoses (multiple) 2"", ""exostosin 2"""			8162019, 9576285	Standard	NM_000401		Approved	SOTV	uc001mya.3	Q93063	OTTHUMG00000166498	ENST00000343631.3:c.283C>T	11.37:g.44129545C>T	ENSP00000342656:p.Arg95Cys					EXT2_uc010rfo.1_Missense_Mutation_p.R123C|EXT2_uc001mxy.2_Missense_Mutation_p.R108C|EXT2_uc009ykt.2_Missense_Mutation_p.R95C|EXT2_uc001mya.2_Missense_Mutation_p.R128C	p.R95C	NM_207122	NP_997005	Q93063	EXT2_HUMAN			2	617	+			95			Lumenal (Potential).		B2R5Z6|C9JU51|J3KPT2|O15288	Missense_Mutation	SNP	ENST00000343631.3	37	c.283C>T	CCDS7908.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.161121	0.78226	0.0	2.33E-4	ENSG00000151348	ENST00000533608;ENST00000527014;ENST00000358681;ENST00000395673;ENST00000343631	D;T;D;D;D	0.96967	-4.16;-0.55;-4.17;-4.19;-4.16	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.96324	0.8801	L	0.27053	0.805	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	P;D;D;D;D	0.72338	0.759;0.95;0.977;0.935;0.935	D	0.97083	0.9785	10	0.87932	D	0	-19.6769	15.6445	0.77036	0.1376:0.8624:0.0:0.0	.	95;95;95;95;108	Q6NUL1;C9JU51;Q93063-2;Q93063;D3DR24	.;.;.;EXT2_HUMAN;.	C	95;95;95;128;95	ENSP00000431173:R95C;ENSP00000434716:R95C;ENSP00000351509:R95C;ENSP00000379032:R128C;ENSP00000342656:R95C	ENSP00000342656:R95C	R	+	1	0	EXT2	44086121	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.888000	0.56204	2.568000	0.86640	0.650000	0.86243	CGC		0.512	EXT2-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390074.1	NM_000401	
OR4A5	81318	broad.mit.edu	37	11	51412077	51412077	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr11:51412077C>T	ENST00000319760.6	-	1	371	c.319G>A	c.(319-321)Ggg>Agg	p.G107R		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				ACCTCAGCCCCACCAAAGAAA	0.443																																						uc001nhi.1																			0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(319-321)GGG>AGG		olfactory receptor, family 4, subfamily A,							67.0	67.0	67.0					11																	51412077		2201	4296	6497	SO:0001583	missense	81318				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51412077C>T	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"""GPCR / Class A : Olfactory receptors"""	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.319G>A	11.37:g.51412077C>T	ENSP00000367664:p.Gly107Arg						p.G107R	NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN			1	319	-		all_lung(304;0.236)	107			Helical; Name=3; (Potential).		Q6IF84	Missense_Mutation	SNP	ENST00000319760.6	37	c.319G>A	CCDS31497.1	.	.	.	.	.	.	.	.	.	.	.	6.075	0.382195	0.11524	.	.	ENSG00000221840	ENST00000319760	T	0.09817	2.94	1.93	0.953	0.19590	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48286	D	0.000189	T	0.36248	0.0960	H	0.94658	3.565	0.09310	N	1	D	0.65815	0.995	D	0.71184	0.972	T	0.12372	-1.0550	10	0.72032	D	0.01	.	6.9356	0.24464	0.0:0.8398:0.0:0.1602	rs5002407;rs5002407	107	Q8NH83	OR4A5_HUMAN	R	107	ENSP00000367664:G107R	ENSP00000367664:G107R	G	-	1	0	OR4A5	51268653	0.000000	0.05858	0.324000	0.25361	0.002000	0.02628	-1.708000	0.01891	0.377000	0.24735	-1.608000	0.00805	GGG		0.443	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272	
MMP13	4322	broad.mit.edu	37	11	102816396	102816396	+	Missense_Mutation	SNP	C	C	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr11:102816396C>A	ENST00000260302.3	-	9	1322	c.1294G>T	c.(1294-1296)Gat>Tat	p.D432Y	MMP13_ENST00000340273.4_Missense_Mutation_p.D432Y	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	432	Interaction with collagen.				bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	TAGACAGCATCTACTTTATCA	0.328																																						uc001phl.2																			0				ovary(2)|skin(1)	3						c.(1294-1296)GAT>TAT		matrix metalloproteinase 13 preproprotein							149.0	156.0	153.0					11																	102816396		2202	4297	6499	SO:0001583	missense	4322				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	g.chr11:102816396C>A	X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"""Endogenous ligands"""	7159	protein-coding gene	gene with protein product	"""collagenase 3"""	600108	"""matrix metalloproteinase 13 (collagenase 3)"""			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.1294G>T	11.37:g.102816396C>A	ENSP00000260302:p.Asp432Tyr						p.D432Y	NM_002427	NP_002418	P45452	MMP13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0144)	9	1322	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	432			Hemopexin-like 4.	Calcium 3; via carbonyl oxygen (By similarity).	A8K846|B2RCZ3|Q6NWN6	Missense_Mutation	SNP	ENST00000260302.3	37	c.1294G>T	CCDS8324.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.079598	0.55753	.	.	ENSG00000137745	ENST00000260302;ENST00000340273	T;T	0.20881	3.03;2.04	6.16	6.16	0.99307	Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.58424	0.2121	M	0.90705	3.14	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63484	-0.6627	10	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	432	P45452	MMP13_HUMAN	Y	432	ENSP00000260302:D432Y;ENSP00000339672:D432Y	ENSP00000260302:D432Y	D	-	1	0	MMP13	102321606	0.986000	0.35501	0.993000	0.49108	0.320000	0.28249	2.308000	0.43690	2.937000	0.99478	0.650000	0.86243	GAT		0.328	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427	
MMP13	4322	broad.mit.edu	37	11	102826101	102826101	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr11:102826101C>T	ENST00000260302.3	-	2	270	c.242G>A	c.(241-243)gGc>gAc	p.G81D	MMP13_ENST00000340273.4_Missense_Mutation_p.G81D	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	81					bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	GTCAAGTTTGCCAGTCACCTC	0.473																																						uc001phl.2																			0				ovary(2)|skin(1)	3						c.(241-243)GGC>GAC		matrix metalloproteinase 13 preproprotein							155.0	150.0	152.0					11																	102826101		2202	4299	6501	SO:0001583	missense	4322				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	g.chr11:102826101C>T	X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"""Endogenous ligands"""	7159	protein-coding gene	gene with protein product	"""collagenase 3"""	600108	"""matrix metalloproteinase 13 (collagenase 3)"""			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.242G>A	11.37:g.102826101C>T	ENSP00000260302:p.Gly81Asp						p.G81D	NM_002427	NP_002418	P45452	MMP13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0144)	2	270	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	81					A8K846|B2RCZ3|Q6NWN6	Missense_Mutation	SNP	ENST00000260302.3	37	c.242G>A	CCDS8324.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.846161	0.91277	.	.	ENSG00000137745	ENST00000260302;ENST00000546012;ENST00000340273	D;D	0.90197	-2.63;-2.63	5.77	5.77	0.91146	Peptidoglycan binding-like (2);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97111	0.9056	H	0.95816	3.725	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97478	1.0045	10	0.87932	D	0	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	81	P45452	MMP13_HUMAN	D	81	ENSP00000260302:G81D;ENSP00000339672:G81D	ENSP00000260302:G81D	G	-	2	0	MMP13	102331311	1.000000	0.71417	0.995000	0.50966	0.870000	0.49936	7.776000	0.85560	2.885000	0.99019	0.655000	0.94253	GGC		0.473	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427	
OR10G8	219869	broad.mit.edu	37	11	123900834	123900834	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr11:123900834G>A	ENST00000431524.1	+	1	538	c.505G>A	c.(505-507)Gga>Aga	p.G169R		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	169						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(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GCCCTACTGTGGACCCAACTG	0.537																																						uc001pzp.1																			0				ovary(1)|skin(1)	2						c.(505-507)GGA>AGA		olfactory receptor, family 10, subfamily G,							205.0	184.0	191.0					11																	123900834		2201	4299	6500	SO:0001583	missense	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900834G>A	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.505G>A	11.37:g.123900834G>A	ENSP00000389072:p.Gly169Arg						p.G169R	NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	505	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	169			Extracellular (Potential).		B2RNJ3|Q6IEV2	Missense_Mutation	SNP	ENST00000431524.1	37	c.505G>A	CCDS31704.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.972463	0.34848	.	.	ENSG00000234560	ENST00000431524	T	0.38560	1.13	3.04	3.04	0.35103	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47455	D	0.000229	T	0.60431	0.2268	M	0.71581	2.175	0.33443	D	0.582611	D	0.89917	1.0	D	0.97110	1.0	T	0.72833	-0.4173	10	0.87932	D	0	.	11.4582	0.50193	0.0:0.1838:0.8162:0.0	.	169	Q8NGN5	O10G8_HUMAN	R	169	ENSP00000389072:G169R	ENSP00000389072:G169R	G	+	1	0	OR10G8	123406044	0.998000	0.40836	0.989000	0.46669	0.406000	0.30931	1.187000	0.32090	1.684000	0.51022	0.650000	0.86243	GGA		0.537	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464	
CACNA1C	775	broad.mit.edu	37	12	2716164	2716164	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr12:2716164C>T	ENST00000347598.4	+	27	3284	c.3284C>T	c.(3283-3285)aCg>aTg	p.T1095M	CACNA1C_ENST00000402845.3_Missense_Mutation_p.T1075M|CACNA1C-AS3_ENST00000543559.1_RNA|CACNA1C_ENST00000399603.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399595.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000344100.3_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399655.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399637.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399617.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000335762.5_Missense_Mutation_p.T1100M|CACNA1C_ENST00000399644.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399649.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399629.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000480911.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399641.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399606.1_Missense_Mutation_p.T1095M|CACNA1C_ENST00000327702.7_Missense_Mutation_p.T1075M|CACNA1C_ENST00000406454.3_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399621.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399638.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399634.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399597.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399591.1_Missense_Mutation_p.T1075M|CACNA1C_ENST00000399601.1_Missense_Mutation_p.T1075M	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1095					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)	AACTACATCACGTACAAAGAC	0.557																																						uc009zdu.1																			0				ovary(10)|central_nervous_system(1)	11						c.(3283-3285)ACG>ATG		calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						63.0	66.0	65.0					12																	2716164		2072	4233	6305	SO:0001583	missense	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.chr12:2716164C>T	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.3284C>T	12.37:g.2716164C>T	ENSP00000266376:p.Thr1095Met					CACNA1C_uc009zdv.1_Missense_Mutation_p.T1072M|CACNA1C_uc001qkb.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkc.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qke.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkf.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qjz.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkd.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkg.2_Missense_Mutation_p.T1075M|CACNA1C_uc009zdw.1_Missense_Mutation_p.T1075M|CACNA1C_uc001qkh.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkl.2_Missense_Mutation_p.T1095M|CACNA1C_uc001qkn.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qko.2_Missense_Mutation_p.T1095M|CACNA1C_uc001qkp.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkr.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qku.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkq.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qks.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkt.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qka.1_Missense_Mutation_p.T610M|CACNA1C_uc001qki.1_Missense_Mutation_p.T811M|CACNA1C_uc001qkj.1_Missense_Mutation_p.T811M|CACNA1C_uc001qkk.1_Missense_Mutation_p.T811M|CACNA1C_uc001qkm.1_Missense_Mutation_p.T811M	p.T1095M	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	27	3597	+			1095			Extracellular (Potential).|III.		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	Missense_Mutation	SNP	ENST00000347598.4	37	c.3284C>T	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	c	13.73	2.322899	0.41096	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96685	-4.02;-4.01;-4.05;-4.01;-4.04;-4.01;-4.03;-3.92;-3.97;-4.01;-3.96;-3.94;-4.01;-4.09;-3.96;-3.86;-4.08;-4.02;-4.01;-4.05;-3.96;-4.04;-4.08	4.86	4.86	0.63082	Ion transport (1);	0.202841	0.52532	D	0.000071	D	0.97099	0.9052	L	0.42529	1.33	0.38378	D	0.945041	D;P;B;D;P;P;B;B;B;B;B;B;B;P;P;B;B;P;B;B;P;P;B;B;B	0.89917	1.0;0.466;0.265;1.0;0.719;0.466;0.212;0.224;0.024;0.33;0.239;0.123;0.212;0.469;0.636;0.414;0.4;0.525;0.119;0.239;0.525;0.525;0.286;0.013;0.286	D;B;B;D;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.91635	0.999;0.071;0.041;0.999;0.148;0.071;0.091;0.024;0.024;0.071;0.023;0.04;0.091;0.04;0.284;0.034;0.058;0.049;0.04;0.034;0.071;0.049;0.024;0.011;0.047	D	0.97646	1.0151	10	0.46703	T	0.11	.	18.5389	0.91020	0.0:1.0:0.0:0.0	.	1075;1072;1095;1075;1075;1075;1075;1075;1075;1095;1075;1046;1095;1075;1075;1075;1075;1075;1075;1075;1075;1075;1075;1075;1075	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;F5H638;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	M	1100;1075;1075;1075;1075;1075;1075;1075;1075;1075;1095;1095;1075;1075;1075;1075;1075;1075;1075;1075;1075;1075;1075;916	ENSP00000336982:T1100M;ENSP00000382563:T1075M;ENSP00000437936:T1075M;ENSP00000382552:T1075M;ENSP00000382547:T1075M;ENSP00000382506:T1075M;ENSP00000382530:T1075M;ENSP00000382546:T1075M;ENSP00000382500:T1075M;ENSP00000382549:T1075M;ENSP00000266376:T1095M;ENSP00000382515:T1095M;ENSP00000382510:T1075M;ENSP00000341092:T1075M;ENSP00000382537:T1075M;ENSP00000329877:T1075M;ENSP00000382557:T1075M;ENSP00000385724:T1075M;ENSP00000382512:T1075M;ENSP00000382542:T1075M;ENSP00000382526:T1075M;ENSP00000385896:T1075M;ENSP00000382504:T1075M	ENSP00000323129:T916M	T	+	2	0	CACNA1C	2586425	0.139000	0.22563	0.995000	0.50966	0.979000	0.70002	1.089000	0.30890	2.687000	0.91594	0.651000	0.88453	ACG		0.557	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719	
C1S	716	broad.mit.edu	37	12	7174399	7174399	+	Missense_Mutation	SNP	T	T	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr12:7174399T>A	ENST00000406697.1	+	12	1672	c.1044T>A	c.(1042-1044)agT>agA	p.S348R	C1S_ENST00000328916.3_Missense_Mutation_p.S348R|C1S_ENST00000360817.5_Missense_Mutation_p.S348R|C1S_ENST00000402681.3_Missense_Mutation_p.S181R|C1S_ENST00000495061.1_3'UTR			P09871	C1S_HUMAN	complement component 1, s subcomponent	348	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GAAAGTGGAGTAATTCCAAAC	0.368																																					GBM(156;750 1943 12971 24779 31015)	uc001qsj.2																			0				skin(1)	1						c.(1042-1044)AGT>AGA		complement component 1, s subcomponent	Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)						140.0	129.0	133.0					12																	7174399		2203	4300	6503	SO:0001583	missense	716				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	g.chr12:7174399T>A		CCDS31735.1	12p13	2014-09-17			ENSG00000182326	ENSG00000182326	3.4.21.42	"""Complement system"""	1247	protein-coding gene	gene with protein product		120580					Standard	NM_201442		Approved		uc001qsl.3	P09871	OTTHUMG00000150305	ENST00000406697.1:c.1044T>A	12.37:g.7174399T>A	ENSP00000385035:p.Ser348Arg					C1S_uc001qsk.2_Missense_Mutation_p.S348R|C1S_uc001qsl.2_Missense_Mutation_p.S348R|C1S_uc009zfr.2_Missense_Mutation_p.S181R|C1S_uc009zfs.2_RNA	p.S348R	NM_201442	NP_958850	P09871	C1S_HUMAN			12	1763	+			348			Sushi 1.		D3DUT4|Q9UCU7|Q9UCU8|Q9UCU9|Q9UCV0|Q9UCV1|Q9UCV2|Q9UCV3|Q9UCV4|Q9UCV5|Q9UM14	Missense_Mutation	SNP	ENST00000406697.1	37	c.1044T>A	CCDS31735.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.043461	0.75732	.	.	ENSG00000182326	ENST00000406697;ENST00000328916;ENST00000360817;ENST00000382222;ENST00000402681	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	5.74	0.327	0.15913	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.49916	D	0.000128	T	0.78641	0.4315	M	0.93150	3.385	0.35945	D	0.83347	P	0.47677	0.899	P	0.55222	0.771	T	0.79065	-0.1956	10	0.35671	T	0.21	.	7.8564	0.29485	0.0:0.4601:0.0:0.5398	.	348	P09871	C1S_HUMAN	R	348;348;348;336;181	ENSP00000385035:S348R;ENSP00000328173:S348R;ENSP00000354057:S348R;ENSP00000384171:S181R	ENSP00000328173:S348R	S	+	3	2	C1S	7044660	0.996000	0.38824	0.968000	0.41197	0.961000	0.63080	0.588000	0.23924	0.036000	0.15547	0.459000	0.35465	AGT		0.368	C1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317481.1	NM_001734	
SYT10	341359	broad.mit.edu	37	12	33538180	33538180	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr12:33538180G>A	ENST00000228567.3	-	4	1420	c.1124C>T	c.(1123-1125)cCg>cTg	p.P375L	SYT10_ENST00000535526.1_Missense_Mutation_p.P194L	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	375	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CCCAGCCGTCGGTAGGTAACA	0.438																																						uc001rll.1																			0				ovary(1)|skin(1)	2						c.(1123-1125)CCG>CTG		synaptotagmin X							132.0	110.0	117.0					12																	33538180		2203	4300	6503	SO:0001583	missense	341359					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr12:33538180G>A	AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"""Synaptotagmins"""	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.1124C>T	12.37:g.33538180G>A	ENSP00000228567:p.Pro375Leu					SYT10_uc009zju.1_Missense_Mutation_p.P185L	p.P375L	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN			4	1421	-	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)		375			C2 2.|Cytoplasmic (Potential).		Q495U2	Missense_Mutation	SNP	ENST00000228567.3	37	c.1124C>T	CCDS8732.1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.454775	0.63290	.	.	ENSG00000110975	ENST00000228567;ENST00000535526	T;T	0.75367	-0.93;-0.93	4.6	3.7	0.42460	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.41194	U	0.000922	D	0.86176	0.5870	M	0.85777	2.775	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.88131	0.2838	10	0.87932	D	0	.	12.689	0.56964	0.0822:0.0:0.9178:0.0	.	375	Q6XYQ8	SYT10_HUMAN	L	375;194	ENSP00000228567:P375L;ENSP00000438691:P194L	ENSP00000228567:P375L	P	-	2	0	SYT10	33429447	1.000000	0.71417	0.616000	0.29078	0.419000	0.31324	9.057000	0.93889	1.243000	0.43853	0.557000	0.71058	CCG		0.438	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403222.1	NM_198992	
CCDC184	387856	broad.mit.edu	37	12	48578422	48578422	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr12:48578422C>T	ENST00000316554.3	+	1	1057	c.517C>T	c.(517-519)Cca>Tca	p.P173S		NM_001013635.3	NP_001013657.3	Q52MB2	CC184_HUMAN		173						cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)	4						GGGGGACGGGCCACTTGTGGA	0.662																																						uc001rrj.2																			0				central_nervous_system(1)	1						c.(517-519)CCA>TCA		hypothetical protein LOC387856							8.0	8.0	8.0					12																	48578422		2163	4226	6389	SO:0001583	missense	387856					cytoplasm		g.chr12:48578422C>T																												ENST00000316554.3:c.517C>T	12.37:g.48578422C>T	ENSP00000320849:p.Pro173Ser						p.P173S	NM_001013635	NP_001013657	Q52MB2	CL068_HUMAN			1	1057	+			173					Q96MK5|Q96N39	Missense_Mutation	SNP	ENST00000316554.3	37	c.517C>T	CCDS31785.1	.	.	.	.	.	.	.	.	.	.	C	9.267	1.044591	0.19748	.	.	ENSG00000177875	ENST00000316554	T	0.59772	0.24	5.22	4.34	0.51931	.	0.118826	0.38720	N	0.001596	T	0.36580	0.0972	N	0.08118	0	0.33454	D	0.584109	B	0.14805	0.011	B	0.19946	0.027	T	0.47560	-0.9108	10	0.87932	D	0	-0.3623	9.4528	0.38736	0.0:0.905:0.0:0.095	.	173	Q52MB2	CL068_HUMAN	S	173	ENSP00000320849:P173S	ENSP00000320849:P173S	P	+	1	0	C12orf68	46864689	1.000000	0.71417	1.000000	0.80357	0.389000	0.30415	1.397000	0.34543	1.435000	0.47434	0.563000	0.77884	CCA		0.662	C12orf68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406514.1		
SCN8A	6334	broad.mit.edu	37	12	52180608	52180608	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr12:52180608G>A	ENST00000354534.6	+	22	4403	c.4225G>A	c.(4225-4227)Gta>Ata	p.V1409I	SCN8A_ENST00000545061.1_Missense_Mutation_p.V1368I	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1409					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	CCTTCTTCAAGTAGTAAGTAG	0.403																																						uc001ryw.2																			0				ovary(7)	7						c.(4225-4227)GTA>ATA		sodium channel, voltage gated, type VIII, alpha	Lamotrigine(DB00555)						60.0	59.0	59.0					12																	52180608		1867	4098	5965	SO:0001583	missense	6334				axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity	g.chr12:52180608G>A	AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.4225G>A	12.37:g.52180608G>A	ENSP00000346534:p.Val1409Ile					SCN8A_uc010snl.1_Missense_Mutation_p.V1233I|SCN8A_uc001rza.1_RNA	p.V1409I	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.181)	22	4403	+			1409			III.		B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	ENST00000354534.6	37	c.4225G>A	CCDS44891.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.000708	0.93227	.	.	ENSG00000196876	ENST00000354534;ENST00000545061;ENST00000355133	D;D;D	0.97620	-4.46;-4.46;-4.46	5.26	5.26	0.73747	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97936	0.9321	L	0.56199	1.76	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.80764	0.959;0.994	D	0.98528	1.0626	10	0.87932	D	0	.	19.4335	0.94781	0.0:0.0:1.0:0.0	.	1368;1409	F8VWM7;Q9UQD0	.;SCN8A_HUMAN	I	1409;1368;1368	ENSP00000346534:V1409I;ENSP00000440360:V1368I;ENSP00000347255:V1368I	ENSP00000346534:V1409I	V	+	1	0	SCN8A	50466875	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	6.584000	0.74057	2.906000	0.99361	0.655000	0.94253	GTA		0.403	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404372.3	NM_014191	
TESPA1	9840	broad.mit.edu	37	12	55356553	55356553	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr12:55356553C>T	ENST00000449076.1	-	9	1261	c.1129G>A	c.(1129-1131)Gca>Aca	p.A377T	TESPA1_ENST00000524959.1_5'Flank|TESPA1_ENST00000316577.8_Missense_Mutation_p.A377T|TESPA1_ENST00000532804.1_Missense_Mutation_p.A239T|TESPA1_ENST00000524622.1_Missense_Mutation_p.A239T|TESPA1_ENST00000531122.1_Missense_Mutation_p.A239T	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	377					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)											TGGGATGGTGCTAGCACTGTG	0.527																																						uc001sgn.3																			0		p.T377N(1)		ovary(1)|central_nervous_system(1)	2						c.(1129-1131)GCA>ACA		hypothetical protein LOC9840							74.0	73.0	74.0					12																	55356553		2003	4176	6179	SO:0001583	missense	9840							g.chr12:55356553C>T	AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"""KIAA0748"""	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.1129G>A	12.37:g.55356553C>T	ENSP00000400892:p.Ala377Thr					KIAA0748_uc001sgl.3_Missense_Mutation_p.A239T|KIAA0748_uc001sgm.3_Missense_Mutation_p.A124T|KIAA0748_uc010spb.1_Missense_Mutation_p.A124T|KIAA0748_uc010spc.1_Missense_Mutation_p.A239T|KIAA0748_uc010spd.1_Missense_Mutation_p.A377T|KIAA0748_uc001sgo.3_RNA	p.A377T	NM_001098815	NP_001092285	A2RU30	K0748_HUMAN			9	1239	-			377					B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Missense_Mutation	SNP	ENST00000449076.1	37	c.1129G>A	CCDS44913.1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.593298	0.28357	.	.	ENSG00000135426	ENST00000524622;ENST00000532804;ENST00000449076;ENST00000316577;ENST00000531122	T;T;T;T;T	0.48836	0.8;0.8;0.81;0.81;0.8	4.15	-2.3	0.06785	.	1.493090	0.04320	N	0.350579	T	0.30696	0.0773	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.14172	-1.0482	10	0.44086	T	0.13	-0.0323	0.8645	0.01200	0.1704:0.3096:0.1443:0.3757	.	377	A2RU30	K0748_HUMAN	T	239;239;377;377;239	ENSP00000435622:A239T;ENSP00000432030:A239T;ENSP00000400892:A377T;ENSP00000312679:A377T;ENSP00000433098:A239T	ENSP00000312679:A377T	A	-	1	0	KIAA0748	53642820	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.325000	0.07976	-0.485000	0.06754	-0.844000	0.03045	GCA		0.527	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383822.1	NM_001098815	
HCAR2	338442	broad.mit.edu	37	12	123187080	123187080	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr12:123187080G>A	ENST00000328880.5	-	1	810	c.751C>T	c.(751-753)Cgg>Tgg	p.R251W	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	251					negative regulation of lipid catabolic process (GO:0050995)|neutrophil apoptotic process (GO:0001781)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of neutrophil apoptotic process (GO:0033031)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nicotinic acid receptor activity (GO:0070553)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Niacin(DB00627)	ATGCGGATCCGCACAACCACG	0.542																																						uc001ucx.1																			0					0						c.(751-753)CGG>TGG		G protein-coupled receptor 109A	Mepenzolate(DB04843)|Niacin(DB00627)						154.0	124.0	134.0					12																	123187080		2202	4300	6502	SO:0001583	missense	338442				negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis	integral to membrane|plasma membrane	nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled	g.chr12:123187080G>A	AY148884	CCDS9235.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000182782	ENSG00000182782		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	24827	protein-coding gene	gene with protein product	"""niacin receptor 1"""	609163	"""G protein-coupled receptor 109A"""	GPR109A		21167710, 12522134, 12646212, 19141678, 18983141, 21454438	Standard	NM_177551		Approved	HCA2, HM74A, PUMAG, Puma-g, NIACR1	uc001ucx.1	Q8TDS4	OTTHUMG00000162722	ENST00000328880.5:c.751C>T	12.37:g.123187080G>A	ENSP00000375066:p.Arg251Trp					GPR81_uc001ucw.1_Intron	p.R251W	NM_177551	NP_808219	Q8TDS4	HCAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196)	1	825	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		251			Extracellular (Potential).		A0PJL5|A7LGG3	Missense_Mutation	SNP	ENST00000328880.5	37	c.751C>T	CCDS9235.1	.	.	.	.	.	.	.	.	.	.	G	12.33	1.906200	0.33628	.	.	ENSG00000182782	ENST00000328880;ENST00000536970	T	0.38401	1.14	4.97	-0.862	0.10673	GPCR, rhodopsin-like superfamily (1);	0.092068	0.41823	D	0.000814	T	0.55609	0.1931	M	0.71581	2.175	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56721	-0.7932	10	0.72032	D	0.01	-22.1262	14.8977	0.70656	0.0:0.0:0.2284:0.7716	.	251	Q8TDS4	HCAR2_HUMAN	W	251	ENSP00000375066:R251W	ENSP00000375066:R251W	R	-	1	2	HCAR2	121753033	0.000000	0.05858	0.085000	0.20634	0.279000	0.26890	0.525000	0.22956	0.029000	0.15352	-0.311000	0.09066	CGG		0.542	HCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370202.1	NM_177551	
KLHL1	57626	broad.mit.edu	37	13	70535514	70535514	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr13:70535514G>A	ENST00000377844.4	-	3	1502	c.743C>T	c.(742-744)gCc>gTc	p.A248V	KLHL1_ENST00000545028.1_Missense_Mutation_p.A55V	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	248	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CTCTTGCTTGGCTTCACAAAC	0.413																																						uc001vip.2																			0					0						c.(742-744)GCC>GTC		kelch-like 1 protein							158.0	137.0	144.0					13																	70535514		2203	4300	6503	SO:0001583	missense	57626				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	g.chr13:70535514G>A	AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.743C>T	13.37:g.70535514G>A	ENSP00000367075:p.Ala248Val					KLHL1_uc010thm.1_Missense_Mutation_p.A187V	p.A248V	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)	3	1537	-		Breast(118;0.000162)	248			BTB.		A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	ENST00000377844.4	37	c.743C>T	CCDS9445.1	.	.	.	.	.	.	.	.	.	.	G	34	5.352952	0.95830	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	T;T	0.71698	-0.59;-0.59	5.08	5.08	0.68730	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.64402	D	0.000004	D	0.83830	0.5339	M	0.71871	2.18	0.52099	D	0.999943	D;D	0.76494	0.999;0.993	D;D	0.75484	0.986;0.967	D	0.85486	0.1182	10	0.72032	D	0.01	.	18.8503	0.92225	0.0:0.0:1.0:0.0	.	248;248	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	V	248;55	ENSP00000367075:A248V;ENSP00000439602:A55V	ENSP00000367075:A248V	A	-	2	0	KLHL1	69433515	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.805000	0.99149	2.531000	0.85337	0.563000	0.77884	GCC		0.413	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045231.3	NM_020866	
SPTB	6710	broad.mit.edu	37	14	65245925	65245925	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr14:65245925C>T	ENST00000389721.5	-	21	4545	c.4513G>A	c.(4513-4515)Gac>Aac	p.D1505N	SPTB_ENST00000542895.1_Missense_Mutation_p.D1505N|SPTB_ENST00000389720.3_Missense_Mutation_p.D1505N|SPTB_ENST00000389722.3_Missense_Mutation_p.D1505N|SPTB_ENST00000556626.1_Missense_Mutation_p.D1505N	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1505					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GTGCCATAGTCGGCTGACTGG	0.587																																						uc001xht.2																			0				ovary(7)|skin(2)|lung(1)|central_nervous_system(1)	11						c.(4513-4515)GAC>AAC		spectrin beta isoform b							70.0	70.0	70.0					14																	65245925		2203	4300	6503	SO:0001583	missense	6710				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	g.chr14:65245925C>T		CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.4513G>A	14.37:g.65245925C>T	ENSP00000374371:p.Asp1505Asn					SPTB_uc001xhr.2_Missense_Mutation_p.D1505N|SPTB_uc001xhs.2_Missense_Mutation_p.D1505N|SPTB_uc001xhu.2_Missense_Mutation_p.D1505N|SPTB_uc010aqi.2_Missense_Mutation_p.D166N	p.D1505N	NM_000347	NP_000338	P11277	SPTB1_HUMAN		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)	21	4567	-		all_lung(585;4.15e-09)	1505			Spectrin 12.		Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	c.4513G>A	CCDS32100.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.048619	0.55110	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000335612;ENST00000553938;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T;T	0.55930	0.49;0.49;0.49;0.49;0.49;0.49	5.37	3.55	0.40652	.	0.103861	0.64402	N	0.000004	T	0.40094	0.1103	L	0.27053	0.805	0.49299	D	0.999779	B;B;B	0.31611	0.055;0.015;0.331	B;B;B	0.33196	0.06;0.04;0.159	T	0.30416	-0.9979	10	0.54805	T	0.06	.	11.3915	0.49817	0.0:0.8499:0.0:0.1501	.	289;1505;1509	E7EV95;P11277;Q59FP5	.;SPTB1_HUMAN;.	N	1509;1505;289;170;1505;1505;1505;1505	ENSP00000374372:D1505N;ENSP00000451324:D170N;ENSP00000451752:D1505N;ENSP00000374371:D1505N;ENSP00000443882:D1505N;ENSP00000374370:D1505N	ENSP00000334218:D289N	D	-	1	0	SPTB	64315678	0.996000	0.38824	0.652000	0.29579	0.942000	0.58702	3.329000	0.52060	0.749000	0.32854	0.561000	0.74099	GAC		0.587	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1		
TYRO3	7301	broad.mit.edu	37	15	41859568	41859568	+	Missense_Mutation	SNP	C	C	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr15:41859568C>A	ENST00000263798.3	+	7	1018	c.794C>A	c.(793-795)gCc>gAc	p.A265D	TYRO3_ENST00000559066.1_Missense_Mutation_p.A220D	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	265	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GTGACACAGGCCCCAGGAGGC	0.557																																						uc001zof.1																			0		p.A265G(1)		ovary(3)|lung(2)|central_nervous_system(1)	6						c.(793-795)GCC>GAC		TYRO3 protein tyrosine kinase precursor							66.0	71.0	70.0					15																	41859568		2203	4300	6503	SO:0001583	missense	7301					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr15:41859568C>A	D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.794C>A	15.37:g.41859568C>A	ENSP00000263798:p.Ala265Asp						p.A265D	NM_006293	NP_006284	Q06418	TYRO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)	7	1018	+		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)	265			Fibronectin type-III 1.|Extracellular (Potential).		O14953|Q86VR3	Missense_Mutation	SNP	ENST00000263798.3	37	c.794C>A	CCDS10080.1	.	.	.	.	.	.	.	.	.	.	C	18.78	3.696204	0.68386	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	T	0.57107	0.42	4.64	4.64	0.57946	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.42294	D	0.000740	T	0.47303	0.1438	L	0.43152	1.355	0.42318	D	0.992246	P	0.37781	0.608	B	0.39805	0.31	T	0.44081	-0.9351	10	0.30854	T	0.27	-9.6909	14.5246	0.67878	0.0:1.0:0.0:0.0	.	265	Q06418	TYRO3_HUMAN	D	197;265	ENSP00000263798:A265D	ENSP00000263798:A265D	A	+	2	0	TYRO3	39646860	0.996000	0.38824	0.999000	0.59377	0.985000	0.73830	3.736000	0.55052	2.417000	0.82017	0.655000	0.94253	GCC		0.557	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2		
SPTBN5	51332	broad.mit.edu	37	15	42168354	42168354	+	Silent	SNP	G	G	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr15:42168354G>A	ENST00000320955.6	-	21	4307	c.4080C>T	c.(4078-4080)agC>agT	p.S1360S		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1360					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CGAGTAGCTCGCTCTCAGCTG	0.622																																						uc001zos.2																			0				ovary(1)|central_nervous_system(1)	2						c.(3973-3975)AGC>AGT		spectrin, beta, non-erythrocytic 5							45.0	51.0	49.0					15																	42168354		2150	4259	6409	SO:0001819	synonymous_variant	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42168354G>A	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.4080C>T	15.37:g.42168354G>A							p.S1325S	NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	21	4308	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	1360			Spectrin 10.			Silent	SNP	ENST00000320955.6	37	c.3975C>T																																																																																					0.622	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642	
HERC1	8925	broad.mit.edu	37	15	63948489	63948489	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr15:63948489C>T	ENST00000443617.2	-	49	9755	c.9668G>A	c.(9667-9669)cGa>cAa	p.R3223Q		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3223					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GCACATTAATCGAACTAGCGT	0.532																																						uc002amp.2																			0				ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						c.(9667-9669)CGA>CAA		hect domain and RCC1-like domain 1							48.0	49.0	48.0					15																	63948489		1963	4156	6119	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63948489C>T	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.9668G>A	15.37:g.63948489C>T	ENSP00000390158:p.Arg3223Gln						p.R3223Q	NM_003922	NP_003913	Q15751	HERC1_HUMAN			49	9816	-			3223					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.9668G>A	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	36	5.761200	0.96906	.	.	ENSG00000103657	ENST00000443617	T	0.27557	1.66	4.96	4.96	0.65561	.	0.000000	0.64402	D	0.000003	T	0.52141	0.1716	L	0.53249	1.67	0.80722	D	1	D	0.69078	0.997	D	0.70227	0.968	T	0.54483	-0.8287	10	0.72032	D	0.01	.	18.5686	0.91126	0.0:1.0:0.0:0.0	.	3223	Q15751	HERC1_HUMAN	Q	3223	ENSP00000390158:R3223Q	ENSP00000390158:R3223Q	R	-	2	0	HERC1	61735542	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.698000	0.84413	2.453000	0.82957	0.655000	0.94253	CGA		0.532	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922	
TMC3	342125	broad.mit.edu	37	15	81628948	81628948	+	Splice_Site	SNP	A	A	G			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr15:81628948A>G	ENST00000359440.5	-	20	2339		c.e20+1		RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA|TMC3_ENST00000558726.1_Splice_Site|RP11-761I4.3_ENST00000559781.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GGAAATACTTACCTTCTACCA	0.428																																						uc002bgo.1																			0				ovary(1)|liver(1)	2						c.e20+1		transmembrane channel-like 3							253.0	249.0	251.0					15																	81628948		1898	4107	6005	SO:0001630	splice_region_variant	342125					integral to membrane		g.chr15:81628948A>G	AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.2203+1T>C	15.37:g.81628948A>G						TMC3_uc010blr.1_Splice_Site	p.A735_splice	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN			20	2203	-									Splice_Site	SNP	ENST00000359440.5	37	c.2203_splice	CCDS45324.1	.	.	.	.	.	.	.	.	.	.	A	19.63	3.863956	0.71949	.	.	ENSG00000188869	ENST00000359440	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5872	0.61937	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMC3	79416003	1.000000	0.71417	0.992000	0.48379	0.945000	0.59286	6.342000	0.72982	1.930000	0.55929	0.454000	0.30748	.		0.428	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841	Intron
IL34	146433	broad.mit.edu	37	16	70693910	70693910	+	Missense_Mutation	SNP	C	C	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr16:70693910C>A	ENST00000288098.2	+	6	932	c.549C>A	c.(547-549)agC>agA	p.S183R	FLJ00418_ENST00000597002.1_5'Flank|IL34_ENST00000429149.2_Missense_Mutation_p.S183R|IL34_ENST00000566361.1_Missense_Mutation_p.S158R	NM_001172772.1	NP_001166243.1	Q6ZMJ4	IL34_HUMAN	interleukin 34	183					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein phosphorylation (GO:0001934)	extracellular space (GO:0005615)	macrophage colony-stimulating factor receptor binding (GO:0005157)			breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						GTAAACAAAGCTCCGTCCTAA	0.562																																						uc002ezh.1																			0				central_nervous_system(1)|skin(1)	2						c.(547-549)AGC>AGA		interleukin 34 precursor							155.0	176.0	169.0					16																	70693910		2198	4300	6498	SO:0001583	missense	146433				positive regulation of cell proliferation|positive regulation of protein phosphorylation	extracellular space	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding	g.chr16:70693910C>A	BC029804	CCDS10895.1	16q22.1	2008-08-01	2008-06-04	2008-06-04	ENSG00000157368	ENSG00000157368		"""Interleukins and interleukin receptors"""	28529	protein-coding gene	gene with protein product		612081	"""chromosome 16 open reading frame 77"""	C16orf77		18467591	Standard	NM_152456		Approved	MGC34647, IL-34	uc002ezh.2	Q6ZMJ4	OTTHUMG00000137581	ENST00000288098.2:c.549C>A	16.37:g.70693910C>A	ENSP00000288098:p.Ser183Arg					IL34_uc002ezi.1_Missense_Mutation_p.S182R	p.S183R	NM_152456	NP_689669	Q6ZMJ4	IL34_HUMAN			6	932	+			183					B2RC28|B2Z4A8|B2ZC70|Q8N6L2	Missense_Mutation	SNP	ENST00000288098.2	37	c.549C>A	CCDS10895.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.590837	0.66219	.	.	ENSG00000157368	ENST00000429149;ENST00000288098	T;T	0.49139	0.79;0.79	5.21	3.23	0.37069	.	0.113498	0.40640	N	0.001057	T	0.62998	0.2474	M	0.75447	2.3	0.27440	N	0.953757	D;D	0.71674	0.998;0.998	D;D	0.69654	0.965;0.965	T	0.56768	-0.7924	10	0.66056	D	0.02	-5.8176	8.3234	0.32142	0.0:0.8135:0.0:0.1865	.	182;183	Q6ZMJ4-2;Q6ZMJ4	.;IL34_HUMAN	R	183	ENSP00000397863:S183R;ENSP00000288098:S183R	ENSP00000288098:S183R	S	+	3	2	IL34	69251411	0.401000	0.25303	0.581000	0.28614	0.828000	0.46876	0.454000	0.21827	0.567000	0.29293	0.455000	0.32223	AGC		0.562	IL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268971.3	NM_152456	
TTC25	83538	broad.mit.edu	37	17	40092757	40092757	+	RNA	SNP	G	G	A	rs552309113	byFrequency	TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr17:40092757G>A	ENST00000591658.1	+	0	497							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm (GO:0005737)				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				AGAACAAAGGGGACCTCTCCT	0.522													G|||	3	0.000599042	0.0	0.0	5008	,	,		20584	0.0		0.0	False		,,,				2504	0.0031					uc002hyj.3																			0				ovary(1)	1						c.(427-429)GGG>GGA		tetratricopeptide repeat domain 25							58.0	58.0	58.0					17																	40092757		1927	4112	6039			83538					cytoplasm	protein binding	g.chr17:40092757G>A	AK055498	CCDS74063.1	17q21.2	2014-08-12			ENSG00000204815	ENSG00000204815		"""Tetratricopeptide (TTC) repeat domain containing"""	25280	protein-coding gene	gene with protein product							Standard	XM_006722129		Approved	DKFZP434H0115	uc002hyj.4	Q96NG3	OTTHUMG00000175837		17.37:g.40092757G>A						TTC25_uc010cxt.2_RNA|TTC25_uc010cxs.1_Silent_p.G143G	p.G143G	NM_031421	NP_113609	Q96NG3	TTC25_HUMAN			4	518	+		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)	143					Q6NX40|Q6PJ04|Q9H0K5	Silent	SNP	ENST00000591658.1	37	c.429G>A																																																																																					0.522	TTC25-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000449237.1	NM_031421	
BZRAP1	9256	broad.mit.edu	37	17	56389930	56389930	+	Missense_Mutation	SNP	C	C	G			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr17:56389930C>G	ENST00000343736.4	-	17	2415	c.2252G>C	c.(2251-2253)gGc>gCc	p.G751A	BZRAP1_ENST00000268893.6_Missense_Mutation_p.G691A|BZRAP1_ENST00000355701.3_Missense_Mutation_p.G751A			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	751						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTACTGCTGCCACCCCCACC	0.632																																						uc002ivx.3																			0				upper_aerodigestive_tract(2)|skin(1)	3						c.(2251-2253)GGC>GCC		peripheral benzodiazepine receptor-associated							67.0	57.0	60.0					17																	56389930		2203	4300	6503	SO:0001583	missense	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56389930C>G	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.2252G>C	17.37:g.56389930C>G	ENSP00000345824:p.Gly751Ala					BZRAP1_uc010dcs.2_Missense_Mutation_p.G691A|BZRAP1_uc010wnt.1_Missense_Mutation_p.G751A	p.G751A	NM_004758	NP_004749	O95153	RIMB1_HUMAN			17	3123	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		751					O75111|Q8N5W3	Missense_Mutation	SNP	ENST00000343736.4	37	c.2252G>C	CCDS11605.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.205390	0.58234	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.04454	3.62;3.62;3.63	4.87	4.87	0.63330	.	0.365309	0.32430	N	0.006111	T	0.11836	0.0288	L	0.56769	1.78	0.33189	D	0.550603	D;P;B	0.61080	0.989;0.663;0.397	P;B;B	0.55391	0.775;0.395;0.189	T	0.03433	-1.1037	10	0.44086	T	0.13	.	10.7324	0.46104	0.0:0.9137:0.0:0.0863	.	751;691;751	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	A	751;751;691	ENSP00000347929:G751A;ENSP00000345824:G751A;ENSP00000268893:G691A	ENSP00000268893:G691A	G	-	2	0	BZRAP1	53744929	0.996000	0.38824	1.000000	0.80357	0.813000	0.45954	1.282000	0.33226	2.528000	0.85240	0.462000	0.41574	GGC		0.632	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758	
RYR1	6261	broad.mit.edu	37	19	38990280	38990280	+	Missense_Mutation	SNP	A	A	C			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr19:38990280A>C	ENST00000359596.3	+	44	7033	c.7033A>C	c.(7033-7035)Agc>Cgc	p.S2345R	RYR1_ENST00000360985.3_Missense_Mutation_p.S2345R|RYR1_ENST00000355481.4_Missense_Mutation_p.S2345R			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2345	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GCCAGGCGAGAGCGTGGAGGA	0.667																																						uc002oit.2																			0				ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(7033-7035)AGC>CGC		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						38.0	35.0	36.0					19																	38990280		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38990280A>C	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.7033A>C	19.37:g.38990280A>C	ENSP00000352608:p.Ser2345Arg					RYR1_uc002oiu.2_Missense_Mutation_p.S2345R|RYR1_uc002oiv.1_5'UTR	p.S2345R	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		44	7163	+	all_cancers(60;7.91e-06)		2345			Cytoplasmic.|6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.7033A>C	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	A	14.46	2.540802	0.45280	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.97665	-4.47;-4.48;-4.48	3.82	3.82	0.43975	Intracellular calcium-release channel (1);	0.000000	0.85682	U	0.000000	D	0.97763	0.9266	M	0.68593	2.085	0.49483	D	0.99979	D;P	0.69078	0.997;0.891	D;P	0.78314	0.991;0.467	D	0.98221	1.0478	10	0.87932	D	0	.	12.4081	0.55451	1.0:0.0:0.0:0.0	.	2345;2345	P21817-2;P21817	.;RYR1_HUMAN	R	2345	ENSP00000352608:S2345R;ENSP00000347667:S2345R;ENSP00000354254:S2345R	ENSP00000347667:S2345R	S	+	1	0	RYR1	43682120	1.000000	0.71417	1.000000	0.80357	0.466000	0.32739	9.130000	0.94437	1.595000	0.50050	0.247000	0.18012	AGC		0.667	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		
CADM4	199731	broad.mit.edu	37	19	44130439	44130439	+	Splice_Site	SNP	T	T	C			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr19:44130439T>C	ENST00000222374.2	-	5	549	c.501A>G	c.(499-501)ggA>ggG	p.G167G	CADM4_ENST00000593506.1_5'Flank	NM_145296.1	NP_660339.1	Q8NFZ8	CADM4_HUMAN	cell adhesion molecule 4	167	Ig-like C2-type 1.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				TGCTGCTCACTCCTGCCACAC	0.592																																						uc002oxc.1																			0					0						c.(499-501)GGA>GGG		cell adhesion molecule 4 precursor							91.0	81.0	84.0					19																	44130439		2203	4300	6503	SO:0001630	splice_region_variant	199731				cell adhesion	integral to membrane		g.chr19:44130439T>C	AF363368	CCDS12627.1	19q13.32	2013-01-29	2007-02-07	2007-02-07		ENSG00000105767		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	30825	protein-coding gene	gene with protein product	"""nectin-like 4"""	609744	"""immunoglobulin superfamily, member 4C"""	IGSF4C		11536053	Standard	NM_145296		Approved	TSLL2, Necl-4, SynCAM4	uc002oxc.1	Q8NFZ8		ENST00000222374.2:c.500-1A>G	19.37:g.44130439T>C							p.G167G	NM_145296	NP_660339	Q8NFZ8	CADM4_HUMAN			5	550	-		Prostate(69;0.0199)	167			Extracellular (Potential).|Ig-like C2-type 1.		B2R7L5|Q9Y4A4	Silent	SNP	ENST00000222374.2	37	c.501A>G	CCDS12627.1																																																																																				0.592	CADM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463352.1	NM_145296	Silent
EML2	24139	broad.mit.edu	37	19	46124852	46124852	+	Silent	SNP	G	G	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr19:46124852G>A	ENST00000245925.3	-	10	935	c.885C>T	c.(883-885)ggC>ggT	p.G295G	EML2_ENST00000589876.1_Silent_p.G295G|EML2_ENST00000586902.1_5'UTR|EML2_ENST00000587152.1_Silent_p.G496G|EML2_ENST00000536630.1_Silent_p.G442G	NM_012155.2	NP_036287.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	295	Tandem atypical propeller in EMLs. {ECO:0000250}.				negative regulation of microtubule polymerization (GO:0031115)|regulation of microtubule nucleation (GO:0010968)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		CAAACACGCCGCCGTCGTGGG	0.687																																						uc002pcn.2																			0				large_intestine(1)|ovary(1)	2						c.(883-885)GGC>GGT		echinoderm microtubule associated protein like							33.0	34.0	34.0					19																	46124852		2200	4297	6497	SO:0001819	synonymous_variant	24139				sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding	g.chr19:46124852G>A	AF103939	CCDS12670.1, CCDS54280.1, CCDS59399.1	19q13.32	2013-01-10				ENSG00000125746		"""WD repeat domain containing"""	18035	protein-coding gene	gene with protein product	"""echinoderm MT-associated protein (EMAP)-like protein 70"", ""microtubule-associated protein like echinoderm EMAP"""					11694528, 10521658	Standard	NM_012155		Approved	EMAP2, ELP70, EMAP-2	uc010xxm.2	O95834		ENST00000245925.3:c.885C>T	19.37:g.46124852G>A						EML2_uc002pco.2_RNA|EML2_uc002pcp.2_Silent_p.G179G|EML2_uc010xxl.1_Silent_p.G442G|EML2_uc010xxm.1_Silent_p.G496G|EML2_uc010xxn.1_RNA|EML2_uc010xxo.1_Silent_p.G295G|EML2_uc010ekj.2_Missense_Mutation_p.A262V	p.G295G	NM_012155	NP_036287	O95834	EMAL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)	10	920	-		Ovarian(192;0.179)|all_neural(266;0.224)	295			WD 5.		B7Z3I2|B7Z3Q9|K7ERL7|Q59EN8|Q8N5A2|Q9UG50	Silent	SNP	ENST00000245925.3	37	c.885C>T	CCDS12670.1																																																																																				0.687	EML2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459608.1	NM_012155	
ZNF324B	388569	broad.mit.edu	37	19	58967238	58967238	+	Silent	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr19:58967238C>T	ENST00000336614.4	+	4	1034	c.927C>T	c.(925-927)ggC>ggT	p.G309G	ZNF324B_ENST00000545523.1_Silent_p.G309G|ZNF324B_ENST00000391696.1_Silent_p.G299G	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	309					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TCCACAGCGGCGAGACGCCCT	0.687																																						uc002qsv.1																			0				ovary(1)	1						c.(925-927)GGC>GGT		zinc finger protein 324B							18.0	16.0	17.0					19																	58967238		2121	4181	6302	SO:0001819	synonymous_variant	388569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58967238C>T	AK127750	CCDS33138.1	19q13.43	2013-01-08				ENSG00000249471		"""Zinc fingers, C2H2-type"", ""-"""	33107	protein-coding gene	gene with protein product							Standard	NM_207395		Approved	FLJ45850	uc002qsv.1	Q6AW86		ENST00000336614.4:c.927C>T	19.37:g.58967238C>T						ZNF324B_uc002qsu.1_Silent_p.G299G|ZNF324B_uc010euq.1_Silent_p.G309G	p.G309G	NM_207395	NP_997278	Q6AW86	Z324B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	4	1034	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	309					B2RTZ6|Q6ZMX8|Q6ZS42	Silent	SNP	ENST00000336614.4	37	c.927C>T	CCDS33138.1																																																																																				0.687	ZNF324B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467038.1	NM_207395	
NRXN1	9378	broad.mit.edu	37	2	50850508	50850508	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr2:50850508C>T	ENST00000406316.2	-	6	2554	c.1078G>A	c.(1078-1080)Gga>Aga	p.G360R	NRXN1_ENST00000404971.1_Missense_Mutation_p.G393R|NRXN1_ENST00000406859.3_Missense_Mutation_p.G360R|NRXN1_ENST00000402717.3_Missense_Mutation_p.G360R|NRXN1_ENST00000401669.2_Missense_Mutation_p.G360R|NRXN1_ENST00000405472.3_Missense_Mutation_p.G360R|NRXN1_ENST00000331040.5_5'UTR	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	360	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.G393*(1)|p.G394*(1)|p.G360*(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TTAAACTTTCCATTCACAGGC	0.458																																						uc010fbq.2																			3	Substitution - Nonsense(3)		lung(3)	ovary(2)	2						c.(1177-1179)GGA>AGA		neurexin 1 isoform alpha2 precursor							82.0	79.0	80.0					2																	50850508		1924	4149	6073	SO:0001583	missense	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50850508C>T	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1078G>A	2.37:g.50850508C>T	ENSP00000384311:p.Gly360Arg					NRXN1_uc002rxb.3_Missense_Mutation_p.G40R|NRXN1_uc002rxe.3_Missense_Mutation_p.G360R|NRXN1_uc002rxc.1_RNA	p.G393R	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		6	2654	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	ENST00000406316.2	37	c.1177G>A	CCDS54360.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.532430	0.85812	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08;-1.08	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.84611	0.5510	L	0.42245	1.32	0.58432	D	0.999996	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.985;1.0;1.0	T	0.81136	-0.1070	10	0.29301	T	0.29	.	19.9038	0.96999	0.0:1.0:0.0:0.0	.	393;360;360	Q9ULB1-3;F8WB18;A7E294	.;.;.	R	393;360;360;360;394;360;360	ENSP00000385142:G393R;ENSP00000384311:G360R;ENSP00000434015:G360R;ENSP00000385017:G360R;ENSP00000385434:G360R;ENSP00000385681:G360R	ENSP00000385017:G360R	G	-	1	0	NRXN1	50704012	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.708000	0.92522	0.557000	0.71058	GGA		0.458	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2		
PROM2	150696	broad.mit.edu	37	2	95947910	95947910	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr2:95947910C>T	ENST00000317620.9	+	14	1797	c.1664C>T	c.(1663-1665)gCg>gTg	p.A555V	PROM2_ENST00000317668.4_Missense_Mutation_p.A555V|PROM2_ENST00000403131.2_Missense_Mutation_p.A555V|PROM2_ENST00000542147.1_Missense_Mutation_p.A555V	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	555					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GAAGGGGCAGCGCTCTGGACA	0.627																																						uc002suh.1																			0				ovary(1)	1						c.(1663-1665)GCG>GTG		prominin 2 precursor							54.0	48.0	50.0					2																	95947910		2203	4300	6503	SO:0001583	missense	150696					apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane		g.chr2:95947910C>T	AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.1664C>T	2.37:g.95947910C>T	ENSP00000318270:p.Ala555Val					PROM2_uc002sui.2_Missense_Mutation_p.A555V|PROM2_uc002suj.2_Missense_Mutation_p.A209V|PROM2_uc002suk.2_Missense_Mutation_p.A555V|PROM2_uc002sul.2_Missense_Mutation_p.A81V|PROM2_uc002sum.2_RNA	p.A555V	NM_144707	NP_653308	Q8N271	PROM2_HUMAN			14	1797	+			555			Extracellular (Potential).		A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Missense_Mutation	SNP	ENST00000317620.9	37	c.1664C>T	CCDS2012.1	.	.	.	.	.	.	.	.	.	.	C	12.53	1.966617	0.34659	.	.	ENSG00000155066	ENST00000403131;ENST00000317668;ENST00000317620;ENST00000542147	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	5.22	1.37	0.22104	.	0.995724	0.08141	N	0.991609	T	0.34774	0.0909	L	0.31578	0.945	0.09310	N	1	B	0.23316	0.083	B	0.19666	0.026	T	0.26573	-1.0099	10	0.40728	T	0.16	-4.6958	7.6184	0.28171	0.0:0.6453:0.0:0.3547	.	555	Q8N271	PROM2_HUMAN	V	555	ENSP00000385716:A555V;ENSP00000318520:A555V;ENSP00000318270:A555V;ENSP00000442542:A555V	ENSP00000318270:A555V	A	+	2	0	PROM2	95311637	0.008000	0.16893	0.001000	0.08648	0.957000	0.61999	0.462000	0.21956	-0.027000	0.13873	-0.291000	0.09656	GCG		0.627	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	NM_144707	
MCM6	4175	broad.mit.edu	37	2	136630337	136630337	+	Missense_Mutation	SNP	C	C	G			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr2:136630337C>G	ENST00000264156.2	-	2	244	c.184G>C	c.(184-186)Gtt>Ctt	p.V62L		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	62					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	MCM complex (GO:0042555)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)|identical protein binding (GO:0042802)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)		AAACTCACAACCAATGTGTTT	0.403																																					Ovarian(196;141 2104 8848 24991 25939)	uc002tuw.2																			0					0						c.(184-186)GTT>CTT		minichromosome maintenance complex component 6	Atorvastatin(DB01076)						171.0	159.0	163.0					2																	136630337		2203	4300	6503	SO:0001583	missense	4175				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding	g.chr2:136630337C>G		CCDS2179.1	2q14-q21	2008-02-05	2007-04-04		ENSG00000076003	ENSG00000076003			6949	protein-coding gene	gene with protein product	"""MIS5 homolog (S.pombe)"""	601806	"""minichromosome maintenance deficient (mis5, S. pombe) 6"", ""MCM6 minichromosome maintenance deficient 6 (MIS5 homolog, S. pombe) (S. cerevisiae)"", ""minichromosome maintenance deficient 6 homolog (S. cerevisiae)"""				Standard	NM_005915		Approved	Mis5	uc002tuw.4	Q14566	OTTHUMG00000131739	ENST00000264156.2:c.184G>C	2.37:g.136630337C>G	ENSP00000264156:p.Val62Leu						p.V62L	NM_005915	NP_005906	Q14566	MCM6_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.166)	2	260	-			62					B2R6H2|Q13504|Q99859	Missense_Mutation	SNP	ENST00000264156.2	37	c.184G>C	CCDS2179.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.162613	0.38217	.	.	ENSG00000076003	ENST00000264156	T	0.11604	2.76	5.85	4.98	0.66077	Nucleic acid-binding, OB-fold-like (1);	0.487974	0.22789	N	0.055622	T	0.04092	0.0114	N	0.04355	-0.22	0.30099	N	0.807646	B	0.02656	0.0	B	0.04013	0.001	T	0.32587	-0.9901	10	0.12430	T	0.62	-11.4085	5.4599	0.16612	0.0:0.6391:0.162:0.1989	.	62	Q14566	MCM6_HUMAN	L	62	ENSP00000264156:V62L	ENSP00000264156:V62L	V	-	1	0	MCM6	136346807	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.886000	0.28241	1.481000	0.48307	0.655000	0.94253	GTT		0.403	MCM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254658.1	NM_005915	
TTN	7273	broad.mit.edu	37	2	179458739	179458739	+	Missense_Mutation	SNP	C	C	T	rs368431326		TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr2:179458739C>T	ENST00000591111.1	-	247	53682	c.53458G>A	c.(53458-53460)Gtg>Atg	p.V17820M	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V16893M|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V19461M|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V10588M|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V10521M|TTN_ENST00000460472.2_Missense_Mutation_p.V10396M|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589234.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17820	Ig-like 104.				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)			CTGTTCTCCACAACCACACAG	0.403																																						uc010zfg.1																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(50677-50679)GTG>ATG		titin isoform N2-A							185.0	182.0	183.0					2																	179458739		1998	4177	6175	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179458739C>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.53458G>A	2.37:g.179458739C>T	ENSP00000465570:p.Val17820Met					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V10588M|TTN_uc010zfi.1_Missense_Mutation_p.V10521M|TTN_uc010zfj.1_Missense_Mutation_p.V10396M	p.V16893M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		246	50901	-			17820					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.50677G>A		.	.	.	.	.	.	.	.	.	.	C	14.13	2.444500	0.43429	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61	6.17	6.17	0.99709	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.83635	0.5297	M	0.68728	2.09	0.53688	D	0.999971	D;D;D;D	0.64830	0.994;0.994;0.994;0.994	D;D;D;D	0.66497	0.925;0.925;0.944;0.944	T	0.83344	-0.0006	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	10396;10521;10588;17820	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	M	16893;10396;10588;10521;10394	ENSP00000343764:V16893M;ENSP00000434586:V10396M;ENSP00000340554:V10588M;ENSP00000352154:V10521M	ENSP00000340554:V10588M	V	-	1	0	TTN	179166985	0.737000	0.28175	1.000000	0.80357	0.919000	0.55068	1.416000	0.34759	2.941000	0.99782	0.655000	0.94253	GTG		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
ALS2CR12	130540	broad.mit.edu	37	2	202216040	202216040	+	Missense_Mutation	SNP	G	G	A	rs143899839		TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr2:202216040G>A	ENST00000286190.5	-	1	134	c.88C>T	c.(88-90)Cgc>Tgc	p.R30C	ALS2CR12_ENST00000392257.3_Missense_Mutation_p.R30C|ALS2CR12_ENST00000448967.1_5'UTR|ALS2CR12_ENST00000439709.1_Missense_Mutation_p.R30C|ALS2CR12_ENST00000405148.2_Missense_Mutation_p.R30C			Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	30					regulation of GTPase activity (GO:0043087)	outer dense fiber (GO:0001520)|sperm fibrous sheath (GO:0035686)|sperm flagellum (GO:0036126)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						GAGTTCTTGCGTGGTAGTTGA	0.517																																						uc010ftg.2																			0				ovary(1)|breast(1)|central_nervous_system(1)	3						c.(88-90)CGC>TGC		amyotrophic lateral sclerosis 2 (juvenile)		G	CYS/ARG,CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	97.0	90.0	92.0		88,88	-6.3	0.0	2	dbSNP_134	92	0,8600		0,0,4300	no	missense,missense	ALS2CR12	NM_001127391.1,NM_139163.2	180,180	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	benign,benign	30/423,30/446	202216040	2,13004	2203	4300	6503	SO:0001583	missense	130540				regulation of GTPase activity		protein binding	g.chr2:202216040G>A	AB053314	CCDS2346.1, CCDS46488.1	2q33.1	2009-10-06			ENSG00000155749	ENSG00000155749			14439	protein-coding gene	gene with protein product							Standard	XM_006712272		Approved		uc002uya.4	Q96Q35	OTTHUMG00000132824	ENST00000286190.5:c.88C>T	2.37:g.202216040G>A	ENSP00000286190:p.Arg30Cys					ALS2CR12_uc002uya.3_Missense_Mutation_p.R30C|ALS2CR12_uc010fth.2_RNA	p.R30C	NM_139163	NP_631902	Q96Q35	AL2SB_HUMAN			2	532	-			30					G5E9S3|Q53TT6|Q8N1B6	Missense_Mutation	SNP	ENST00000286190.5	37	c.88C>T	CCDS2346.1	.	.	.	.	.	.	.	.	.	.	G	9.269	1.045144	0.19748	4.54E-4	0.0	ENSG00000155749	ENST00000286190;ENST00000405148;ENST00000392257;ENST00000439709;ENST00000418364	T;T;T;T;T	0.46819	0.95;0.95;0.95;0.95;0.86	4.5	-6.3	0.02007	.	2.199660	0.01267	N	0.009350	T	0.33527	0.0866	L	0.36672	1.1	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.17198	-1.0377	10	0.46703	T	0.11	12.8256	4.4867	0.11794	0.1088:0.1744:0.5378:0.179	.	30;30	Q96Q35;G5E9S3	AL2SB_HUMAN;.	C	30	ENSP00000286190:R30C;ENSP00000385098:R30C;ENSP00000376086:R30C;ENSP00000412073:R30C;ENSP00000407585:R30C	ENSP00000286190:R30C	R	-	1	0	ALS2CR12	201924285	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.351000	0.07711	-1.209000	0.02631	-1.131000	0.01979	CGC		0.517	ALS2CR12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256286.1	NM_139163	
THAP4	51078	broad.mit.edu	37	2	242573479	242573479	+	Silent	SNP	G	G	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr2:242573479G>A	ENST00000407315.1	-	2	524	c.93C>T	c.(91-93)gaC>gaT	p.D31D		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	31							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		GACGTTTTGAGTCCTTTAGGG	0.353																																						uc002wbt.2																			0					0						c.(91-93)GAC>GAT		THAP domain containing 4 isoform 1							67.0	77.0	74.0					2																	242573479		2200	4294	6494	SO:0001819	synonymous_variant	51078						DNA binding|metal ion binding	g.chr2:242573479G>A	AF258556	CCDS2551.1, CCDS54440.1	2q37.3	2013-01-25			ENSG00000176946	ENSG00000176946		"""THAP (C2CH-type zinc finger) domain containing"""	23187	protein-coding gene	gene with protein product		612533				12575992, 10810093	Standard	NM_015963		Approved	CGI-36	uc002wbt.3	Q8WY91	OTTHUMG00000133410	ENST00000407315.1:c.93C>T	2.37:g.242573479G>A							p.D31D	NM_015963	NP_057047	Q8WY91	THAP4_HUMAN		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)	2	316	-		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)	31			THAP-type.		Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	Silent	SNP	ENST00000407315.1	37	c.93C>T	CCDS2551.1																																																																																				0.353	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257267.3	NM_015963	
ADAMTS1	9510	broad.mit.edu	37	21	28212824	28212824	+	Missense_Mutation	SNP	C	C	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr21:28212824C>A	ENST00000284984.3	-	5	1890	c.1436G>T	c.(1435-1437)gGc>gTc	p.G479V		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	479	Disintegrin.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		GTACGAGGTGCCAGGGAGATC	0.527																																						uc002ymf.2																			0				lung(3)|large_intestine(2)|central_nervous_system(1)	6						c.(1435-1437)GGC>GTC		ADAM metallopeptidase with thrombospondin type 1							71.0	65.0	67.0					21																	28212824		2203	4300	6503	SO:0001583	missense	9510				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding	g.chr21:28212824C>A	AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	217	protein-coding gene	gene with protein product		605174	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"""			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.1436G>T	21.37:g.28212824C>A	ENSP00000284984:p.Gly479Val						p.G479V	NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN		Lung(58;0.215)	5	1891	-		Breast(209;0.000962)	479			Disintegrin.		D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Missense_Mutation	SNP	ENST00000284984.3	37	c.1436G>T	CCDS33524.1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.634237	0.87660	.	.	ENSG00000154734	ENST00000284984	T	0.12361	2.69	5.14	5.14	0.70334	ADAM, cysteine-rich (1);	.	.	.	.	T	0.53594	0.1806	H	0.96048	3.76	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68907	-0.5285	9	0.87932	D	0	.	19.154	0.93503	0.0:1.0:0.0:0.0	.	479	Q9UHI8	ATS1_HUMAN	V	479	ENSP00000284984:G479V	ENSP00000284984:G479V	G	-	2	0	ADAMTS1	27134695	1.000000	0.71417	0.837000	0.33122	0.796000	0.44982	7.320000	0.79064	2.831000	0.97527	0.650000	0.86243	GGC		0.527	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2		
PRAME	23532	broad.mit.edu	37	22	22893261	22893261	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr22:22893261T>C	ENST00000398741.1	-	4	578	c.272A>G	c.(271-273)cAt>cGt	p.H91R	PRAME_ENST00000406503.1_Missense_Mutation_p.H91R|PRAME_ENST00000398743.2_Missense_Mutation_p.H91R|PRAME_ENST00000424204.2_Missense_Mutation_p.H75R|PRAME_ENST00000485532.1_5'UTR|PRAME_ENST00000543184.1_Missense_Mutation_p.H91R|PRAME_ENST00000539862.1_Missense_Mutation_p.H75R|PRAME_ENST00000402697.1_Missense_Mutation_p.H91R|PRAME_ENST00000405655.3_Missense_Mutation_p.H91R	NM_206955.1	NP_996838.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	91					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	retinoic acid receptor binding (GO:0042974)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		CAGGTGAAGATGTTGTCCCTT	0.582																																					Melanoma(73;1707 1838 15168 27201)	uc002zwf.2																			0				central_nervous_system(2)	2						c.(271-273)CAT>CGT		preferentially expressed antigen in melanoma							130.0	106.0	114.0					22																	22893261		2203	4300	6503	SO:0001583	missense	23532				apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding	g.chr22:22893261T>C	U65011	CCDS13801.1	22q11.22	2013-01-17			ENSG00000185686	ENSG00000185686		"""-"""	9336	protein-coding gene	gene with protein product	"""cancer/testis antigen 130"""	606021		MAPE		9047241, 10591208	Standard	XM_006725402		Approved	CT130	uc002zwj.3	P78395	OTTHUMG00000151172	ENST00000398741.1:c.272A>G	22.37:g.22893261T>C	ENSP00000381726:p.His91Arg					LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_Missense_Mutation_p.H75R|PRAME_uc010gtr.2_Missense_Mutation_p.H91R|PRAME_uc002zwg.2_Missense_Mutation_p.H91R|PRAME_uc002zwh.2_Missense_Mutation_p.H91R|PRAME_uc002zwi.2_Missense_Mutation_p.H91R|PRAME_uc002zwj.2_Missense_Mutation_p.H91R|PRAME_uc002zwk.2_Missense_Mutation_p.H91R	p.H91R	NM_206956	NP_996839	P78395	PRAME_HUMAN		READ - Rectum adenocarcinoma(21;0.0649)	3	428	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)	91					B2R6Y7|O43481|Q8IXN8	Missense_Mutation	SNP	ENST00000398741.1	37	c.272A>G	CCDS13801.1	.	.	.	.	.	.	.	.	.	.	t	0.016	-1.538640	0.00942	.	.	ENSG00000185686	ENST00000398743;ENST00000543184;ENST00000398741;ENST00000405655;ENST00000539862;ENST00000402697;ENST00000424204;ENST00000439106;ENST00000420709;ENST00000406503	T;T;T;T;T;T;T;T;T;T	0.15952	2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38;2.38	3.46	1.3	0.21679	.	0.718032	0.12683	N	0.447809	T	0.08670	0.0215	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39961	-0.9588	10	0.15952	T	0.53	.	3.3663	0.07204	0.0:0.2285:0.2061:0.5653	.	91	P78395	PRAME_HUMAN	R	91;91;91;91;75;91;75;91;91;91	ENSP00000381728:H91R;ENSP00000445675:H91R;ENSP00000381726:H91R;ENSP00000384343:H91R;ENSP00000445097:H75R;ENSP00000385198:H91R;ENSP00000407342:H75R;ENSP00000407320:H91R;ENSP00000412318:H91R;ENSP00000384058:H91R	ENSP00000381726:H91R	H	-	2	0	PRAME	21223261	0.002000	0.14202	0.001000	0.08648	0.005000	0.04900	0.458000	0.21892	0.216000	0.20781	-0.290000	0.09829	CAT		0.582	PRAME-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321644.1	NM_206953	
FANCD2	2177	broad.mit.edu	37	3	10108908	10108908	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr3:10108908T>C	ENST00000419585.1	+	26	2562	c.2401T>C	c.(2401-2403)Tgc>Cgc	p.C801R	FANCD2_ENST00000287647.3_Missense_Mutation_p.C801R|FANCD2_ENST00000383807.1_Missense_Mutation_p.C801R|FANCD2_ENST00000383806.1_Missense_Mutation_p.C801R			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	801					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AAATGCCTTCTGCCAGGAAAC	0.378			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc003buw.2			yes	Rec		Fanconi anaemia D2	3	3p26	2177	D|Mis|N|F	"""Fanconi anemia, complementation group D2"""			L		AML|leukemia			0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(2401-2403)TGC>CGC	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia complementation group D2 isoform							78.0	68.0	72.0					3																	10108908		2203	4300	6503	SO:0001583	missense	2177	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding|protein binding	g.chr3:10108908T>C	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.2401T>C	3.37:g.10108908T>C	ENSP00000398754:p.Cys801Arg					FANCD2_uc003bux.1_Missense_Mutation_p.C801R|FANCD2_uc003buy.1_Missense_Mutation_p.C801R|FANCD2_uc010hcw.1_RNA	p.C801R	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	26	2479	+			801					Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	ENST00000419585.1	37	c.2401T>C	CCDS33696.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.064861	0.76187	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.61742	0.08;0.08;0.08;0.08	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.75525	0.3861	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.79135	-0.1928	10	0.87932	D	0	.	13.4917	0.61399	0.0:0.0:0.0:1.0	.	801;801	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	R	801	ENSP00000287647:C801R;ENSP00000373318:C801R;ENSP00000373317:C801R;ENSP00000398754:C801R	ENSP00000287647:C801R	C	+	1	0	FANCD2	10083908	1.000000	0.71417	0.999000	0.59377	0.902000	0.53008	7.577000	0.82486	2.078000	0.62432	0.477000	0.44152	TGC		0.378	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1		
IRAK2	3656	broad.mit.edu	37	3	10254939	10254939	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr3:10254939G>A	ENST00000256458.4	+	5	667	c.577G>A	c.(577-579)Gga>Aga	p.G193R		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	193					activation of MAPK activity (GO:0000187)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						GAGCTTGGCTGGAGACAGCCT	0.493																																						uc003bve.1																			0				lung(5)|breast(3)	8						c.(577-579)GGA>AGA		interleukin-1 receptor-associated kinase 2							79.0	77.0	78.0					3																	10254939		2203	4300	6503	SO:0001583	missense	3656				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity	g.chr3:10254939G>A	AF026273	CCDS33697.1	3p25.2	2008-08-18			ENSG00000134070	ENSG00000134070			6113	protein-coding gene	gene with protein product		603304				9374458	Standard	XR_245126		Approved		uc003bve.1	O43187	OTTHUMG00000155358	ENST00000256458.4:c.577G>A	3.37:g.10254939G>A	ENSP00000256458:p.Gly193Arg						p.G193R	NM_001570	NP_001561	O43187	IRAK2_HUMAN			5	653	+			193					B4DQZ6|Q08AG6|Q5K546	Missense_Mutation	SNP	ENST00000256458.4	37	c.577G>A	CCDS33697.1	.	.	.	.	.	.	.	.	.	.	G	11.17	1.560512	0.27827	.	.	ENSG00000134070	ENST00000256458	T	0.34072	1.38	5.34	3.53	0.40419	Protein kinase-like domain (1);	0.341218	0.25261	N	0.031958	T	0.19846	0.0477	N	0.08118	0	0.09310	N	1	D	0.53619	0.961	P	0.44732	0.459	T	0.04140	-1.0974	10	0.45353	T	0.12	-4.7967	7.5389	0.27727	0.1906:0.0:0.8094:0.0	.	193	O43187	IRAK2_HUMAN	R	193	ENSP00000256458:G193R	ENSP00000256458:G193R	G	+	1	0	IRAK2	10229939	0.672000	0.27530	0.030000	0.17652	0.227000	0.25037	3.423000	0.52756	1.377000	0.46286	0.655000	0.94253	GGA		0.493	IRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339623.1		
FGD5	152273	broad.mit.edu	37	3	14862951	14862951	+	Silent	SNP	C	C	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr3:14862951C>A	ENST00000285046.5	+	1	2483	c.2373C>A	c.(2371-2373)ccC>ccA	p.P791P	FGD5_ENST00000543601.1_Silent_p.P550P	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	791					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|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)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						AGATTCCACCCCGGAGACCTG	0.537																																						uc003bzc.2																			0		p.A791A(1)		ovary(3)|kidney(1)|pancreas(1)	5						c.(2371-2373)CCC>CCA		FYVE, RhoGEF and PH domain containing 5							114.0	120.0	118.0					3																	14862951		2029	4190	6219	SO:0001819	synonymous_variant	152273				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	g.chr3:14862951C>A	AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.2373C>A	3.37:g.14862951C>A						FGD5_uc011avk.1_Silent_p.P791P	p.P791P	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN			1	2483	+			791					B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Silent	SNP	ENST00000285046.5	37	c.2373C>A	CCDS46767.1	.	.	.	.	.	.	.	.	.	.	C	7.080	0.569963	0.13560	.	.	ENSG00000154783	ENST00000457774	T	0.75704	-0.96	5.03	-3.35	0.04928	.	0.000000	0.64402	D	0.000019	T	0.67933	0.2946	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61903	-0.6967	7	0.72032	D	0.01	-27.1221	1.0711	0.01622	0.2129:0.1282:0.3176:0.3412	.	.	.	.	T	5	ENSP00000394827:P5T	ENSP00000394827:P5T	P	+	1	0	FGD5	14837955	0.032000	0.19561	0.856000	0.33681	0.741000	0.42261	-0.646000	0.05403	-0.491000	0.06697	0.591000	0.81541	CCG		0.537	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340628.1	NM_152536	
XIRP1	165904	broad.mit.edu	37	3	39229284	39229284	+	Silent	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr3:39229284C>T	ENST00000340369.3	-	2	1881	c.1653G>A	c.(1651-1653)cgG>cgA	p.R551R	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Silent_p.R551R	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	551	Interaction with CTNNB1. {ECO:0000250}.		R -> Q (in dbSNP:rs34121641).		cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CAAAAAGCCACCGAGCTGTGC	0.632																																						uc003cjk.1																			0				ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1)	8						c.(1651-1653)CGG>CGA		xin actin-binding repeat containing 1							49.0	49.0	49.0					3																	39229284		2203	4300	6503	SO:0001819	synonymous_variant	165904						actin binding	g.chr3:39229284C>T	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.1653G>A	3.37:g.39229284C>T						XIRP1_uc003cji.2_Silent_p.R551R|XIRP1_uc003cjj.2_Intron	p.R551R	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	1874	-			551			Interaction with CTNNB1 (By similarity).|Xin 12.		A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Silent	SNP	ENST00000340369.3	37	c.1653G>A	CCDS2683.1																																																																																				0.632	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522	
NDUFAF3	25915	broad.mit.edu	37	3	49062153	49062153	+	IGR	SNP	G	G	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr3:49062153G>A	ENST00000326925.6	+	0	2012				IMPDH2_ENST00000326739.4_Silent_p.L460L|DALRD3_ENST00000496568.1_5'Flank	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3						mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						CCAGCAATCAGGTAAGGGACA	0.552																																						uc003cvt.2																			0				lung(1)	1						c.(1378-1380)CTG>TTG		inosine monophosphate dehydrogenase 2	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)						132.0	128.0	129.0					3																	49062153		2203	4300	6503	SO:0001628	intergenic_variant	3615				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding	g.chr3:49062153G>A		CCDS2784.1, CCDS2785.1	3p21.31	2012-10-12	2012-05-08	2009-03-18	ENSG00000178057	ENSG00000178057		"""Mitochondrial respiratory chain complex assembly factors"""	29918	protein-coding gene	gene with protein product		612911	"""chromosome 3 open reading frame 60"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3"""	C3orf60		12653254, 9349717	Standard	NM_199069		Approved	MGC10527, DKFZP564J0123, E3-3, 2P1	uc003cvq.3	Q9BU61	OTTHUMG00000156773		3.37:g.49062153G>A							p.L460L	NM_000884	NP_000875	P12268	IMDH2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	12	1470	-			460						Silent	SNP	ENST00000326925.6	37	c.1378C>T	CCDS2784.1	.	.	.	.	.	.	.	.	.	.	G	7.348	0.622382	0.14193	.	.	ENSG00000178035	ENST00000429182	.	.	.	5.68	-0.952	0.10366	.	.	.	.	.	T	0.57975	0.2090	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54801	-0.8239	4	.	.	.	-12.5786	11.1573	0.48495	0.5056:0.0:0.4944:0.0	.	.	.	.	L	415	.	.	P	-	2	0	IMPDH2	49037157	1.000000	0.71417	0.993000	0.49108	0.989000	0.77384	1.063000	0.30567	-0.046000	0.13446	-0.150000	0.13652	CCT		0.552	NDUFAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345683.2	NM_199069	
PBRM1	55193	broad.mit.edu	37	3	52595840	52595840	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr3:52595840G>A	ENST00000296302.7	-	25	4232	c.4231C>T	c.(4231-4233)Cgc>Tgc	p.R1411C	PBRM1_ENST00000356770.4_Missense_Mutation_p.R1379C|PBRM1_ENST00000409114.3_Missense_Mutation_p.R1426C|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000409767.1_Missense_Mutation_p.R1426C|PBRM1_ENST00000410007.1_Missense_Mutation_p.R1386C|PBRM1_ENST00000409057.1_Missense_Mutation_p.R1411C|PBRM1_ENST00000394830.3_Missense_Mutation_p.R1359C|RNU6ATAC16P_ENST00000408591.1_RNA|PBRM1_ENST00000337303.4_Missense_Mutation_p.R1411C			Q86U86	PB1_HUMAN	polybromo 1	1411					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CCCACCAGGCGGCTGAGCTCC	0.498			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	uc003des.2				Rec	yes		3	3p21	55193	Mis|N|F|S|D|O	polybromo 1			E			clear cell renal carcinoma|breast		0				kidney(136)|breast(4)	140						c.(4231-4233)CGC>TGC		polybromo 1 isoform 4							212.0	219.0	216.0					3																	52595840		2203	4300	6503	SO:0001583	missense	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52595840G>A	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.4231C>T	3.37:g.52595840G>A	ENSP00000296302:p.Arg1411Cys					PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.R1411C|PBRM1_uc003der.2_Missense_Mutation_p.R1379C|PBRM1_uc003det.2_Missense_Mutation_p.R1426C|PBRM1_uc003deu.2_Missense_Mutation_p.R1426C|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.R1411C|PBRM1_uc010hmk.1_Missense_Mutation_p.R1386C|PBRM1_uc003dey.2_Missense_Mutation_p.R1359C|PBRM1_uc003dez.1_Missense_Mutation_p.R1410C	p.R1411C	NM_181042	NP_060635	Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	25	4243	-			1411			HMG box.		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37	c.4231C>T		.	.	.	.	.	.	.	.	.	.	G	16.33	3.092000	0.55968	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351	D;D;D;D;D;D;D;D;D	0.98090	-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71	5.89	3.86	0.44501	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.98732	0.9574	M	0.88979	2.995	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.87578	0.997;0.992;0.997;0.996;0.997;0.998;0.997;0.996	D	0.99133	1.0853	10	0.87932	D	0	-9.628	13.2901	0.60267	0.0:0.0:0.479:0.521	.	1386;1359;1411;1426;1426;1411;1379;1411	Q86U86-9;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;PB1_HUMAN;.;.	C	1379;1359;1411;1411;1411;1386;1426;1426;1410	ENSP00000349213:R1379C;ENSP00000378307:R1359C;ENSP00000296302:R1411C;ENSP00000338302:R1411C;ENSP00000386593:R1411C;ENSP00000386529:R1386C;ENSP00000386643:R1426C;ENSP00000386601:R1426C;ENSP00000387775:R1410C	ENSP00000296302:R1411C	R	-	1	0	PBRM1	52570880	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.086000	0.57664	0.719000	0.32188	0.557000	0.71058	CGC		0.498	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165	
ATXN7	6314	broad.mit.edu	37	3	63981678	63981678	+	Frame_Shift_Del	DEL	C	C	-			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr3:63981678delC	ENST00000295900.6	+	12	2730	c.2180delC	c.(2179-2181)tctfs	p.S728fs	ATXN7_ENST00000398590.3_Frame_Shift_Del_p.S728fs|ATXN7_ENST00000484332.1_Frame_Shift_Del_p.S583fs|ATXN7_ENST00000538065.1_Frame_Shift_Del_p.S728fs|ATXN7_ENST00000487717.1_Frame_Shift_Del_p.S728fs	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	728	Poly-Ser.|Ser-rich.				cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		tcctcctcttcttcTCATTCC	0.512																																						uc003dlw.3																			0					0						c.(2179-2181)TCTfs		ataxin 7 isoform a							51.0	60.0	57.0					3																	63981678		2123	4259	6382	SO:0001589	frameshift_variant	6314				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding	g.chr3:63981678delC	AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"""Ataxins"""	10560	protein-coding gene	gene with protein product		607640	"""spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"""	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.2180delC	3.37:g.63981678delC	ENSP00000295900:p.Ser728fs					ATXN7_uc003dlv.2_Frame_Shift_Del_p.S727fs|ATXN7_uc010hnv.2_Frame_Shift_Del_p.S727fs|ATXN7_uc011bfn.1_Frame_Shift_Del_p.S582fs	p.S727fs	NM_000333	NP_000324	O15265	ATX7_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)	12	2733	+		Prostate(884;0.0181)	727			Poly-Ser.|Ser-rich.		B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Frame_Shift_Del	DEL	ENST00000295900.6	37	c.2180delC	CCDS43102.1																																																																																				0.512	ATXN7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352070.1	NM_000333	
FNDC3B	64778	broad.mit.edu	37	3	172065012	172065012	+	Missense_Mutation	SNP	G	G	C			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr3:172065012G>C	ENST00000336824.4	+	21	2474	c.2375G>C	c.(2374-2376)aGt>aCt	p.S792T	FNDC3B_ENST00000416957.1_Missense_Mutation_p.S792T|FNDC3B_ENST00000415807.2_Missense_Mutation_p.S792T	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	792	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		AGTCCTGATAGTTCTGGTGCT	0.398																																						uc003fhy.2																			0				ovary(2)|breast(1)	3						c.(2374-2376)AGT>ACT		fibronectin type III domain containing 3B							126.0	126.0	126.0					3																	172065012		2203	4300	6503	SO:0001583	missense	64778					endoplasmic reticulum|integral to membrane		g.chr3:172065012G>C	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.2375G>C	3.37:g.172065012G>C	ENSP00000338523:p.Ser792Thr					FNDC3B_uc003fhz.3_Missense_Mutation_p.S792T	p.S792T	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)	21	2547	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		792			Fibronectin type-III 6.		B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	ENST00000336824.4	37	c.2375G>C	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	G	11.29	1.594576	0.28445	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	T;T;T	0.56941	0.43;0.43;0.43	6.03	5.08	0.68730	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.383662	0.37348	N	0.002126	T	0.51753	0.1693	L	0.54965	1.715	0.80722	D	1	B	0.18461	0.028	B	0.30029	0.11	T	0.43147	-0.9409	10	0.17369	T	0.5	-7.0432	18.0468	0.89335	0.0:0.0:0.8713:0.1286	.	792	Q53EP0	FND3B_HUMAN	T	792	ENSP00000411242:S792T;ENSP00000338523:S792T;ENSP00000389094:S792T	ENSP00000338523:S792T	S	+	2	0	FNDC3B	173547706	1.000000	0.71417	0.152000	0.22495	0.904000	0.53231	4.337000	0.59310	2.861000	0.98227	0.655000	0.94253	AGT		0.398	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2	NM_022763	
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2	H1047R(BT20_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(MCAS_OVARY)|H1047R(HCC1954_BREAST)|H1047R(RKO_LARGE_INTESTINE)|H1047L(EFM19_BREAST)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(CAL29_URINARY_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(T47D_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(SKOV3_OVARY)|H1047R(MDAMB453_BREAST)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		1582	Substitution - Missense(1582)	p.H1047R(1269)|p.H1047L(152)|p.H1047Y(31)|p.H1047Q(3)|p.H1047T(1)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(3139-3141)CAT>CGT		phosphoinositide-3-kinase, catalytic, alpha							99.0	89.0	92.0					3																	178952085		1912	4130	6042	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952085A>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.H1047R	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3297	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1047		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3140A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
IL1RAP	3556	broad.mit.edu	37	3	190345166	190345166	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr3:190345166G>A	ENST00000412504.2	+	7	1082	c.830G>A	c.(829-831)cGc>cAc	p.R277H	IL1RAP_ENST00000434491.1_Missense_Mutation_p.R136H|IL1RAP_ENST00000422485.1_Missense_Mutation_p.R277H|IL1RAP_ENST00000439062.1_Missense_Mutation_p.R277H|IL1RAP_ENST00000443369.2_Missense_Mutation_p.R277H|IL1RAP_ENST00000317757.3_Missense_Mutation_p.R277H|IL1RAP_ENST00000447382.1_Missense_Mutation_p.R277H|IL1RAP_ENST00000422940.1_Missense_Mutation_p.R277H|IL1RAP_ENST00000072516.3_Missense_Mutation_p.R277H			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	277	Ig-like C2-type 3.				immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-2 biosynthetic process (GO:0042094)|protein complex assembly (GO:0006461)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		ATGGATTCTCGCAATGAGGTT	0.378																																						uc003fsm.1																			0				ovary(1)	1						c.(829-831)CGC>CAC		interleukin 1 receptor accessory protein isoform							139.0	130.0	133.0					3																	190345166		2203	4300	6503	SO:0001583	missense	3556				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane		g.chr3:190345166G>A	AB006537	CCDS3298.1, CCDS46982.1, CCDS54696.1	3q28	2013-01-11			ENSG00000196083	ENSG00000196083		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5995	protein-coding gene	gene with protein product		602626				9479509, 9065432	Standard	NM_002182		Approved	IL-1RAcP, IL1R3, C3orf13	uc003fsq.3	Q9NPH3	OTTHUMG00000156211	ENST00000412504.2:c.830G>A	3.37:g.190345166G>A	ENSP00000412053:p.Arg277His					IL1RAP_uc003fsk.2_Missense_Mutation_p.R277H|IL1RAP_uc003fsl.2_Missense_Mutation_p.R277H|IL1RAP_uc010hzf.2_Missense_Mutation_p.R136H|IL1RAP_uc010hzg.1_Missense_Mutation_p.R277H|IL1RAP_uc003fsn.1_RNA|IL1RAP_uc003fso.1_Missense_Mutation_p.R277H|IL1RAP_uc003fsp.1_RNA|IL1RAP_uc003fsq.2_Missense_Mutation_p.R277H	p.R277H	NM_002182	NP_002173	Q9NPH3	IL1AP_HUMAN	Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)	8	1036	+	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		277			Extracellular (Potential).|Ig-like C2-type 3.		B1NLD0|D3DNW0|O14915|Q86WJ7	Missense_Mutation	SNP	ENST00000412504.2	37	c.830G>A	CCDS3298.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.18|13.18	2.161550|2.161550	0.38119|0.38119	.|.	.|.	ENSG00000196083|ENSG00000196083	ENST00000412080|ENST00000072516;ENST00000443369;ENST00000412504;ENST00000439062;ENST00000447382;ENST00000422485;ENST00000434491;ENST00000422940;ENST00000317757	.|T;T;T;T;T;T;T;T;T	.|0.09911	.|5.18;4.88;5.18;5.18;5.18;3.12;2.93;3.12;4.88	5.97|5.97	1.62|1.62	0.23740|0.23740	.|Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.174957	.|0.39274	.|N	.|0.001419	T|T	0.06917|0.06917	0.0176|0.0176	L|L	0.34521|0.34521	1.04|1.04	0.34892|0.34892	D|D	0.74565|0.74565	.|B;B;B;B	.|0.11235	.|0.004;0.001;0.0;0.002	.|B;B;B;B	.|0.08055	.|0.003;0.001;0.0;0.001	T|T	0.18618|0.18618	-1.0331|-1.0331	5|10	.|0.30078	.|T	.|0.28	.|.	5.2861|5.2861	0.15702|0.15702	0.2993:0.1492:0.5514:0.0|0.2993:0.1492:0.5514:0.0	.|.	.|136;277;277;277	.|C9J9W1;Q9NPH3-5;Q9NPH3;Q9NPH3-2	.|.;.;IL1AP_HUMAN;.	T|H	114|277;277;277;277;277;277;136;277;277	.|ENSP00000072516:R277H;ENSP00000408893:R277H;ENSP00000412053:R277H;ENSP00000401132:R277H;ENSP00000390541:R277H;ENSP00000409352:R277H;ENSP00000391899:R136H;ENSP00000387371:R277H;ENSP00000314807:R277H	.|ENSP00000072516:R277H	A|R	+|+	1|2	0|0	IL1RAP|IL1RAP	191827860|191827860	0.213000|0.213000	0.23551|0.23551	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	-0.214000|-0.214000	0.09292|0.09292	0.748000|0.748000	0.32831|0.32831	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.378	IL1RAP-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000343497.1		
MUC4	4585	broad.mit.edu	37	3	195505813	195505813	+	Missense_Mutation	SNP	T	T	C	rs562396488	byFrequency	TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr3:195505813T>C	ENST00000463781.3	-	2	13097	c.12638A>G	c.(12637-12639)gAc>gGc	p.D4213G	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.D4213G	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.D4213G(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGAGGAAGTGTCGGTGACAGG	0.592													.|||	73	0.0145767	0.0151	0.0144	5008	,	,		14193	0.0159		0.0189	False		,,,				2504	0.0082					uc011bto.1																			2	Substitution - Missense(2)		endometrium(2)		0						c.(12253-12255)GAC>GGC		mucin 4 isoform a							26.0	23.0	24.0					3																	195505813		690	1577	2267	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505813T>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12638A>G	3.37:g.195505813T>C	ENSP00000417498:p.Asp4213Gly					MUC4_uc003fva.2_5'Flank|MUC4_uc003fvb.2_5'Flank|MUC4_uc003fvc.2_5'Flank|MUC4_uc003fvd.2_5'Flank|MUC4_uc003fve.2_5'Flank|MUC4_uc010hzr.2_5'Flank|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron	p.D4085G	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	3	12714	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.12254A>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	N	0.010	-1.784645	0.00628	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.32753	1.44;1.46	.	.	.	.	.	.	.	.	T	0.12689	0.0308	N	0.14661	0.345	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.24190	-1.0167	7	.	.	.	.	3.8908	0.09117	0.0:0.332:0.0:0.668	.	4085	E7ESK3	.	G	4213	ENSP00000417498:D4213G;ENSP00000420243:D4213G	.	D	-	2	0	MUC4	196990592	.	.	0.000000	0.03702	0.000000	0.00434	.	.	-1.874000	0.01133	-1.876000	0.00548	GAC		0.592	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
UGT2B11	10720	broad.mit.edu	37	4	70079956	70079956	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr4:70079956G>A	ENST00000446444.1	-	1	493	c.485C>T	c.(484-486)gCg>gTg	p.A162V	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	162					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)	p.A162V(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						GTTAAGTAGCGCAGCCAGCAG	0.423																																						uc003heh.2																			1	Substitution - Missense(1)	p.A162A(1)	prostate(1)	ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3						c.(484-486)GCG>GTG		UDP glucuronosyltransferase 2 family,							133.0	129.0	130.0					4																	70079956		2203	4298	6501	SO:0001583	missense	10720				estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70079956G>A	AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"""UDP glucuronosyltransferases"""	12545	protein-coding gene	gene with protein product		603064	"""UDP glycosyltransferase 2 family, polypeptide B11"""			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.485C>T	4.37:g.70079956G>A	ENSP00000387683:p.Ala162Val					uc003hei.1_Intron	p.A162V	NM_001073	NP_001064	O75310	UDB11_HUMAN			1	494	-			162					Q3KNV9	Missense_Mutation	SNP	ENST00000446444.1	37	c.485C>T	CCDS3527.1	.	.	.	.	.	.	.	.	.	.	-	6.161	0.397893	0.11696	.	.	ENSG00000213759	ENST00000446444	T	0.62941	-0.01	1.96	1.96	0.26148	.	0.211940	0.30159	U	0.010280	T	0.52500	0.1738	L	0.56280	1.765	0.09310	N	1	B	0.21381	0.055	B	0.21708	0.036	T	0.50311	-0.8843	10	0.87932	D	0	.	6.193	0.20534	0.0:0.0:0.2599:0.7401	.	162	O75310	UDB11_HUMAN	V	162	ENSP00000387683:A162V	ENSP00000387683:A162V	A	-	2	0	UGT2B11	70114545	0.097000	0.21791	0.348000	0.25681	0.020000	0.10135	1.912000	0.39946	0.041000	0.15688	-1.448000	0.01049	GCG		0.423	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073	
ADAM29	11086	broad.mit.edu	37	4	175897289	175897289	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr4:175897289G>A	ENST00000359240.3	+	5	1283	c.613G>A	c.(613-615)Gtc>Atc	p.V205I	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Missense_Mutation_p.V205I|ADAM29_ENST00000404450.4_Missense_Mutation_p.V205I|ADAM29_ENST00000445694.1_Missense_Mutation_p.V205I	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	205	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.		V -> I (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.V205I(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AATTGTAGTCGTCATTGATAA	0.348																																					Ovarian(140;1727 1835 21805 25838 41440)	uc003iuc.2																			2	Substitution - Missense(2)	p.V205I(1)	large_intestine(2)	skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1)	16						c.(613-615)GTC>ATC		ADAM metallopeptidase domain 29 preproprotein							86.0	87.0	87.0					4																	175897289		2203	4300	6503	SO:0001583	missense	11086				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr4:175897289G>A	AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.613G>A	4.37:g.175897289G>A	ENSP00000352177:p.Val205Ile					ADAM29_uc003iud.2_Missense_Mutation_p.V205I|ADAM29_uc010irr.2_Missense_Mutation_p.V205I|ADAM29_uc011cki.1_Missense_Mutation_p.V205I	p.V205I	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)	5	1283	+		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	205		V -> I (in a colorectal cancer sample; somatic mutation).	Peptidase M12B.|Extracellular (Potential).		Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	c.613G>A	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	G	14.34	2.504909	0.44558	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5	3.74	2.9	0.33743	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.330976	0.16461	N	0.213409	T	0.75627	0.3875	M	0.64080	1.96	0.09310	N	1	D	0.59357	0.985	P	0.58970	0.849	T	0.63435	-0.6638	9	.	.	.	.	7.3233	0.26540	0.1206:0.0:0.8794:0.0	.	205	Q9UKF5	ADA29_HUMAN	I	205	ENSP00000352177:V205I;ENSP00000414544:V205I;ENSP00000384229:V205I;ENSP00000423517:V205I	.	V	+	1	0	ADAM29	176133864	0.714000	0.27936	0.004000	0.12327	0.001000	0.01503	1.522000	0.35921	1.155000	0.42497	0.643000	0.83706	GTC		0.348	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding			
TMEM174	134288	broad.mit.edu	37	5	72469396	72469396	+	Missense_Mutation	SNP	C	C	T	rs34059261		TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr5:72469396C>T	ENST00000296776.5	+	1	375	c.326C>T	c.(325-327)cCg>cTg	p.P109L	TMEM174_ENST00000511737.1_3'UTR	NM_153217.2	NP_694949.1	Q8WUU8	TM174_HUMAN	transmembrane protein 174	109						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		GAAAGGGTCCCGGACTCGGAA	0.527																																						uc010izc.2																			0				ovary(1)	1						c.(325-327)CCG>CTG		transmembrane protein 174		C	LEU/PRO	3,4403	6.2+/-15.9	0,3,2200	96.0	98.0	97.0		326	-7.4	0.1	5	dbSNP_126	97	0,8600		0,0,4300	no	missense	TMEM174	NM_153217.2	98	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	benign	109/244	72469396	3,13003	2203	4300	6503	SO:0001583	missense	134288					integral to membrane		g.chr5:72469396C>T	BC019346	CCDS4018.1	5q13.2	2008-02-05			ENSG00000164325	ENSG00000164325			28187	protein-coding gene	gene with protein product		614909				12477932	Standard	NM_153217		Approved	MGC13034, FLJ31268	uc010izc.3	Q8WUU8	OTTHUMG00000131268	ENST00000296776.5:c.326C>T	5.37:g.72469396C>T	ENSP00000296776:p.Pro109Leu						p.P109L	NM_153217	NP_694949	Q8WUU8	TM174_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)	1	374	+		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)	109					B2RDA0|Q96N81	Missense_Mutation	SNP	ENST00000296776.5	37	c.326C>T	CCDS4018.1	.	.	.	.	.	.	.	.	.	.	C	0.033	-1.321815	0.01320	6.81E-4	0.0	ENSG00000164325	ENST00000296776	.	.	.	6.02	-7.38	0.01407	.	0.815774	0.11111	N	0.598556	T	0.16214	0.0390	N	0.02916	-0.46	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25572	-1.0128	9	0.42905	T	0.14	-2.174	12.1893	0.54261	0.0:0.4531:0.0852:0.4617	rs34059261	109	Q8WUU8	TM174_HUMAN	L	109	.	ENSP00000296776:P109L	P	+	2	0	TMEM174	72505152	0.000000	0.05858	0.128000	0.21923	0.190000	0.23558	-1.035000	0.03564	-1.092000	0.03062	-1.119000	0.02030	CCG		0.527	TMEM174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254036.1	NM_153217	
EGR1	1958	broad.mit.edu	37	5	137803019	137803019	+	Missense_Mutation	SNP	C	C	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr5:137803019C>A	ENST00000239938.4	+	2	1153	c.881C>A	c.(880-882)gCc>gAc	p.A294D		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	294					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ACTATTAAGGCCTTTGCCACT	0.627																																						uc003ldb.1																			0				ovary(1)	1						c.(880-882)GCC>GAC		early growth response 1							93.0	104.0	100.0					5																	137803019		2203	4300	6503	SO:0001583	missense	1958				cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:137803019C>A	M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"""Zinc fingers, C2H2-type"""	3238	protein-coding gene	gene with protein product	"""nerve growth factor-induced protein A"", ""transcription factor ETR103"", ""zinc finger protein 225"", ""early growth response protein 1"""	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.881C>A	5.37:g.137803019C>A	ENSP00000239938:p.Ala294Asp					EGR1_uc011cyu.1_Intron	p.A294D	NM_001964	NP_001955	P18146	EGR1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		2	1151	+			294						Missense_Mutation	SNP	ENST00000239938.4	37	c.881C>A	CCDS4206.1	.	.	.	.	.	.	.	.	.	.	C	16.79	3.220729	0.58560	.	.	ENSG00000120738	ENST00000239938	T	0.09911	2.93	5.16	4.28	0.50868	.	0.000000	0.85682	D	0.000000	T	0.34193	0.0889	M	0.85197	2.74	0.80722	D	1	D	0.76494	0.999	P	0.60789	0.879	T	0.39921	-0.9590	10	0.87932	D	0	-24.9712	15.6049	0.76658	0.0:0.8618:0.1382:0.0	.	294	P18146	EGR1_HUMAN	D	294	ENSP00000239938:A294D	ENSP00000239938:A294D	A	+	2	0	EGR1	137830918	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.818000	0.86416	1.143000	0.42306	0.557000	0.71058	GCC		0.627	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251274.1	NM_001964	
DSP	1832	broad.mit.edu	37	6	7583937	7583937	+	Missense_Mutation	SNP	G	G	A	rs144539278		TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr6:7583937G>A	ENST00000379802.3	+	24	6783	c.6442G>A	c.(6442-6444)Gcc>Acc	p.A2148T	DSP_ENST00000418664.2_Missense_Mutation_p.A1549T	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2148	4.5 X 38 AA tandem repeats (Domain A).|Globular 2.				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)			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)		AAAAGATGTCGCCTTGGCCCG	0.478																																						uc003mxp.1																			0				central_nervous_system(6)|ovary(2)|skin(1)	9						c.(6442-6444)GCC>ACC		desmoplakin isoform I		G	THR/ALA,THR/ALA	2,4404	4.2+/-10.8	0,2,2201	50.0	53.0	52.0		4645,6442	5.4	0.5	6	dbSNP_134	52	0,8600		0,0,4300	no	missense,missense	DSP	NM_001008844.1,NM_004415.2	58,58	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging	1549/2273,2148/2872	7583937	2,13004	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.chr6:7583937G>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.6442G>A	6.37:g.7583937G>A	ENSP00000369129:p.Ala2148Thr					DSP_uc003mxq.1_Missense_Mutation_p.A1549T	p.A2148T	NM_004415	NP_004406	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	6721	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	2148			Plectin 4.|Globular 2.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.6442G>A	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	G	19.57	3.851876	0.71719	4.54E-4	0.0	ENSG00000096696	ENST00000379802;ENST00000418664	D;D	0.97598	-4.45;-4.45	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000015	D	0.98710	0.9567	M	0.88704	2.975	0.42578	D	0.993204	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99418	1.0932	10	0.66056	D	0.02	.	19.4739	0.94976	0.0:0.0:1.0:0.0	.	1596;2148	Q4LE79;P15924	.;DESP_HUMAN	T	2148;1549	ENSP00000369129:A2148T;ENSP00000396591:A1549T	ENSP00000369129:A2148T	A	+	1	0	DSP	7528936	1.000000	0.71417	0.472000	0.27241	0.554000	0.35429	9.813000	0.99286	2.697000	0.92050	0.655000	0.94253	GCC		0.478	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415	
HIST1H2AM	8336	broad.mit.edu	37	6	27860752	27860752	+	Missense_Mutation	SNP	A	A	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr6:27860752A>T	ENST00000359611.2	-	1	211	c.176T>A	c.(175-177)cTa>cAa	p.L59Q	HIST1H3J_ENST00000479986.1_5'UTR|HIST1H3J_ENST00000359303.2_5'Flank|HIST1H2BO_ENST00000303806.4_5'Flank	NM_003514.2	NP_003505.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2am	59						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)	14						CTCGGCAGTTAGGTACTCCAG	0.662																																						uc003nkb.1																			0				ovary(2)	2						c.(175-177)CTA>CAA		histone cluster 1, H2am							64.0	70.0	68.0					6																	27860752		2202	4300	6502	SO:0001583	missense	8336				nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	g.chr6:27860752A>T	X57138	CCDS4639.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000233224	ENSG00000278677		"""Histones / Replication-dependent"""	4735	protein-coding gene	gene with protein product		602796	"""H2A histone family, member N"", ""histone 1, H2am"""	H2AFN		1768865, 9439656, 12408966	Standard	NM_003514		Approved	H2A/n, H2A.1	uc003nkb.1	P0C0S8	OTTHUMG00000014494	ENST00000359611.2:c.176T>A	6.37:g.27860752A>T	ENSP00000352627:p.Leu59Gln					HIST1H3J_uc003nka.2_5'Flank|HIST1H2BO_uc003nkc.1_5'Flank	p.L59Q	NM_003514	NP_003505	P0C0S8	H2A1_HUMAN			1	212	-			59					P02261|Q2M1R2|Q76PA6	Missense_Mutation	SNP	ENST00000359611.2	37	c.176T>A	CCDS4639.1	.	.	.	.	.	.	.	.	.	.	A	18.60	3.658526	0.67586	.	.	ENSG00000233224	ENST00000359611	T	0.72167	-0.63	4.06	4.06	0.47325	.	0.000000	0.25244	U	0.032063	D	0.88955	0.6578	H	0.99090	4.425	0.38697	D	0.952897	.	.	.	.	.	.	D	0.92712	0.6184	8	0.87932	D	0	.	12.8166	0.57669	1.0:0.0:0.0:0.0	.	.	.	.	Q	59	ENSP00000352627:L59Q	ENSP00000352627:L59Q	L	-	2	0	HIST1H2AM	27968731	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	8.704000	0.91351	2.058000	0.61347	0.533000	0.62120	CTA		0.662	HIST1H2AM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040162.1	NM_003514	
NEU1	4758	broad.mit.edu	37	6	31830506	31830506	+	Silent	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr6:31830506C>T	ENST00000375631.4	-	1	177	c.48G>A	c.(46-48)ggG>ggA	p.G16G		NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN	sialidase 1 (lysosomal sialidase)	16					glycosphingolipid metabolic process (GO:0006687)|lipid catabolic process (GO:0016042)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)	GAATCCGCGGCCCCCAGCGTC	0.662																																						uc003nxq.3																			0				ovary(1)	1						c.(46-48)GGG>GGA		neuraminidase precursor	Oseltamivir(DB00198)|Zanamivir(DB00558)						58.0	46.0	50.0					6																	31830506		1511	2709	4220	SO:0001819	synonymous_variant	4758					cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding	g.chr6:31830506C>T	AF040958	CCDS4723.1	6p21	2012-10-02			ENSG00000204386	ENSG00000204386	3.2.1.18		7758	protein-coding gene	gene with protein product		608272		NEU		9054950	Standard	NM_000434		Approved		uc003nxq.4	Q99519	OTTHUMG00000031284	ENST00000375631.4:c.48G>A	6.37:g.31830506C>T						NEU1_uc010jtg.2_RNA|NEU1_uc003nxr.3_RNA|NEU1_uc010jth.2_5'UTR|NEU1_uc003nxs.3_Silent_p.G16G	p.G16G	NM_000434	NP_000425	Q99519	NEUR1_HUMAN			1	204	-			16						Silent	SNP	ENST00000375631.4	37	c.48G>A	CCDS4723.1																																																																																				0.662	NEU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076616.2		
PKHD1	5314	broad.mit.edu	37	6	51751972	51751972	+	Silent	SNP	C	C	T	rs200774031		TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr6:51751972C>T	ENST00000371117.3	-	44	7343	c.7068G>A	c.(7066-7068)ccG>ccA	p.P2356P	PKHD1_ENST00000340994.4_Silent_p.P2356P	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2356					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.P2356P(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGGAAAGAAGCGGAGCTTGTG	0.388													C|||	1	0.000199681	0.0	0.0	5008	,	,		18623	0.001		0.0	False		,,,				2504	0.0					uc003pah.1																			1	Substitution - coding silent(1)	p.P2356P(1)	breast(1)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(7066-7068)CCG>CCA		fibrocystin isoform 1		C	,	0,4406		0,0,2203	155.0	137.0	143.0		7068,7068	-7.7	1.0	6		143	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	PKHD1	NM_138694.3,NM_170724.2	,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,	2356/4075,2356/3397	51751972	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51751972C>T	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.7068G>A	6.37:g.51751972C>T						PKHD1_uc010jzn.1_Silent_p.P339P|PKHD1_uc003pai.2_Silent_p.P2356P	p.P2356P	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			44	7344	-	Lung NSC(77;0.0605)		2356			Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	c.7068G>A	CCDS4935.1																																																																																				0.388	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
C6orf165	154313	broad.mit.edu	37	6	88170826	88170826	+	Silent	SNP	G	G	A	rs376338058		TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr6:88170826G>A	ENST00000507897.1	+	12	1664	c.1581G>A	c.(1579-1581)acG>acA	p.T527T	C6ORF165_ENST00000369562.4_Silent_p.T527T|C6orf165_ENST00000506888.1_3'UTR			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	527										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		TGCCACCAACGATTGTGAGAT	0.328																																						uc003plv.2																			0				central_nervous_system(1)	1						c.(1579-1581)ACG>ACA		hypothetical protein LOC154313 isoform 1		G		1,4405	2.1+/-5.4	0,1,2202	84.0	73.0	77.0		1581	-10.8	0.2	6		77	0,8594		0,0,4297	no	coding-synonymous	C6orf165	NM_001031743.2		0,1,6499	AA,AG,GG		0.0,0.0227,0.0077		527/623	88170826	1,12999	2203	4297	6500	SO:0001819	synonymous_variant	154313							g.chr6:88170826G>A	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.1581G>A	6.37:g.88170826G>A						SLC35A1_uc003plx.2_RNA|C6orf165_uc003plw.2_Silent_p.T339T|C6orf165_uc010kbv.1_RNA	p.T527T	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0419)	12	1673	+		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	527					A8K969|E1P507|Q8N9U4	Silent	SNP	ENST00000507897.1	37	c.1581G>A	CCDS34498.1																																																																																				0.328	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823	
SDK1	221935	broad.mit.edu	37	7	4215452	4215452	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr7:4215452T>C	ENST00000404826.2	+	34	5121	c.4982T>C	c.(4981-4983)aTg>aCg	p.M1661T	SDK1_ENST00000389531.3_Intron	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1661	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACATCGACGATGTGTGAACTA	0.582																																						uc003smx.2																			0				large_intestine(3)|ovary(2)|skin(1)	6						c.(4981-4983)ATG>ACG		sidekick 1 precursor							198.0	139.0	159.0					7																	4215452		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:4215452T>C	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.4982T>C	7.37:g.4215452T>C	ENSP00000385899:p.Met1661Thr					SDK1_uc010kso.2_Intron|SDK1_uc003smy.2_Missense_Mutation_p.M148T	p.M1661T	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	34	5121	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	1661			Fibronectin type-III 10.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.4982T>C	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	T	0.108	-1.142319	0.01728	.	.	ENSG00000146555	ENST00000404826	T	0.53206	0.63	4.52	3.62	0.41486	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.234215	0.36628	N	0.002482	T	0.13713	0.0332	N	0.00392	-1.555	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.09079	-1.0691	10	0.09084	T	0.74	.	10.0318	0.42105	0.0:0.9031:0.0:0.0969	.	148;1661	F2Z3E9;Q7Z5N4	.;SDK1_HUMAN	T	1661	ENSP00000385899:M1661T	ENSP00000385899:M1661T	M	+	2	0	SDK1	4181978	0.968000	0.33430	0.034000	0.17996	0.002000	0.02628	1.414000	0.34736	0.871000	0.35750	-0.242000	0.12053	ATG		0.582	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744	
GPR141	353345	broad.mit.edu	37	7	37780665	37780665	+	Missense_Mutation	SNP	C	C	G	rs373247764		TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr7:37780665C>G	ENST00000447769.1	+	4	959	c.670C>G	c.(670-672)Cag>Gag	p.Q224E	GPR141_ENST00000334425.1_Missense_Mutation_p.Q224E|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	224						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.Q224*(1)|p.Q224K(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTTCTGGGCTCAGCTGAAAAA	0.438																																						uc003tfm.1																			2	Substitution - Nonsense(1)|Substitution - Missense(1)		lung(2)	ovary(3)	3						c.(670-672)CAG>GAG		G protein-coupled receptor 141							167.0	166.0	166.0					7																	37780665		2203	4300	6503	SO:0001583	missense	353345					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr7:37780665C>G	AY288420	CCDS5451.1	7p14.1	2012-08-21			ENSG00000187037	ENSG00000187037		"""GPCR / Class A : Orphans"""	19997	protein-coding gene	gene with protein product		609045				12679517, 14623098	Standard	NM_181791		Approved	PGR13	uc003tfm.1	Q7Z602	OTTHUMG00000102105	ENST00000447769.1:c.670C>G	7.37:g.37780665C>G	ENSP00000390410:p.Gln224Glu					uc003tfl.2_Intron	p.Q224E	NM_181791	NP_861456	Q7Z602	GP141_HUMAN			1	670	+			224			Cytoplasmic (Potential).		A4D1X7|Q0VAR5|Q86SP3	Missense_Mutation	SNP	ENST00000447769.1	37	c.670C>G	CCDS5451.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.376168	0.82682	.	.	ENSG00000187037	ENST00000447769;ENST00000334425	T;T	0.37752	1.18;1.18	5.2	5.2	0.72013	GPCR, rhodopsin-like superfamily (1);	0.063724	0.64402	D	0.000004	T	0.59865	0.2225	M	0.73962	2.25	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.53099	-0.8486	10	0.27785	T	0.31	-19.0544	18.0556	0.89363	0.0:1.0:0.0:0.0	.	224	Q7Z602	GP141_HUMAN	E	224	ENSP00000390410:Q224E;ENSP00000334540:Q224E	ENSP00000334540:Q224E	Q	+	1	0	GPR141	37747190	1.000000	0.71417	0.889000	0.34880	0.995000	0.86356	7.289000	0.78701	2.882000	0.98803	0.655000	0.94253	CAG		0.438	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219943.2	NM_181791	
GLI3	2737	broad.mit.edu	37	7	42004153	42004153	+	Silent	SNP	G	G	A	rs377186629		TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr7:42004153G>A	ENST00000395925.3	-	15	4602	c.4518C>T	c.(4516-4518)ttC>ttT	p.F1506F	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1506	Asp/Glu-rich (acidic).				anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TGATGGCATCGAAGTCAATCT	0.552									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													uc011kbh.1																			0				lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						c.(4516-4518)TTC>TTT		GLI-Kruppel family member GLI3		G		0,4406		0,0,2203	126.0	106.0	113.0		4518	-0.6	1.0	7		113	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GLI3	NM_000168.5		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1506/1581	42004153	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2737	Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42004153G>A		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.4518C>T	7.37:g.42004153G>A						GLI3_uc011kbg.1_Silent_p.F1447F	p.F1506F	NM_000168	NP_000159	P10071	GLI3_HUMAN			15	4609	-			1506			Asp/Glu-rich (acidic).		A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	ENST00000395925.3	37	c.4518C>T	CCDS5465.1																																																																																				0.552	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168	
SEMA3E	9723	broad.mit.edu	37	7	83095907	83095907	+	Missense_Mutation	SNP	G	G	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr7:83095907G>T	ENST00000307792.3	-	4	814	c.347C>A	c.(346-348)gCa>gAa	p.A116E	SEMA3E_ENST00000427262.1_Missense_Mutation_p.A56E	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	116	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				AACATAATTTGCACATTCACC	0.388																																						uc003uhy.1																			0				ovary(3)	3						c.(346-348)GCA>GAA		semaphorin 3E precursor							123.0	106.0	112.0					7																	83095907		2203	4300	6503	SO:0001583	missense	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:83095907G>T	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.347C>A	7.37:g.83095907G>T	ENSP00000303212:p.Ala116Glu						p.A116E	NM_012431	NP_036563	O15041	SEM3E_HUMAN			4	813	-		Medulloblastoma(109;0.109)	116			Sema.		B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	ENST00000307792.3	37	c.347C>A	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.819256	0.71028	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514;ENST00000442159	T;T;T	0.10477	2.87;2.87;2.87	5.48	3.68	0.42216	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.058282	0.64402	D	0.000002	T	0.33147	0.0853	M	0.85630	2.765	0.53005	D	0.999967	D	0.89917	1.0	D	0.97110	1.0	T	0.06463	-1.0825	10	0.30854	T	0.27	.	11.1332	0.48360	0.1521:0.0:0.8479:0.0	.	116	O15041	SEM3E_HUMAN	E	116;56;116;56	ENSP00000303212:A116E;ENSP00000405052:A56E;ENSP00000412867:A56E	ENSP00000303212:A116E	A	-	2	0	SEMA3E	82933843	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	6.691000	0.74573	0.702000	0.31825	0.650000	0.86243	GCA		0.388	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431	
SAMD9L	219285	broad.mit.edu	37	7	92763418	92763418	+	Missense_Mutation	SNP	T	T	G			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr7:92763418T>G	ENST00000318238.4	-	5	3083	c.1867A>C	c.(1867-1869)Aaa>Caa	p.K623Q	SAMD9L_ENST00000411955.1_Missense_Mutation_p.K623Q|SAMD9L_ENST00000437805.1_Missense_Mutation_p.K623Q	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	623					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GATTTTAGTTTAAGGATAGTG	0.383																																						uc003umh.1																			0				ovary(4)	4						c.(1867-1869)AAA>CAA		sterile alpha motif domain containing 9-like							99.0	102.0	101.0					7																	92763418		2203	4300	6503	SO:0001583	missense	219285							g.chr7:92763418T>G	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.1867A>C	7.37:g.92763418T>G	ENSP00000326247:p.Lys623Gln					SAMD9L_uc003umj.1_Missense_Mutation_p.K623Q|SAMD9L_uc003umi.1_Missense_Mutation_p.K623Q|SAMD9L_uc010lfb.1_Missense_Mutation_p.K623Q|SAMD9L_uc003umk.1_Missense_Mutation_p.K623Q|SAMD9L_uc010lfc.1_Missense_Mutation_p.K623Q|SAMD9L_uc010lfd.1_Missense_Mutation_p.K623Q|SAMD9L_uc011khx.1_Intron	p.K623Q	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	3083	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		623					A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	c.1867A>C	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	T	14.93	2.681559	0.47991	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.24723	1.84;1.84;1.84	4.86	4.86	0.63082	.	0.214138	0.37955	N	0.001867	T	0.37679	0.1012	M	0.63843	1.955	0.27748	N	0.944242	P	0.50528	0.936	P	0.50405	0.64	T	0.33137	-0.9880	10	0.72032	D	0.01	-24.1305	14.2798	0.66202	0.0:0.0:0.0:1.0	.	623	Q8IVG5	SAM9L_HUMAN	Q	623	ENSP00000326247:K623Q;ENSP00000405760:K623Q;ENSP00000408796:K623Q	ENSP00000326247:K623Q	K	-	1	0	SAMD9L	92601354	0.961000	0.32948	1.000000	0.80357	0.591000	0.36615	2.359000	0.44142	2.042000	0.60477	0.383000	0.25322	AAA		0.383	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703	
TRRAP	8295	broad.mit.edu	37	7	98581850	98581850	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr7:98581850G>A	ENST00000359863.4	+	60	9378	c.9169G>A	c.(9169-9171)Gct>Act	p.A3057T	TRRAP_ENST00000446306.3_Missense_Mutation_p.A3028T|TRRAP_ENST00000355540.3_Missense_Mutation_p.A3028T	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3057	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGTCAATGTAGCTCTGGATAT	0.448																																						uc003upp.2																			0				ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37						c.(9169-9171)GCT>ACT		transformation/transcription domain-associated							199.0	182.0	188.0					7																	98581850		2203	4300	6503	SO:0001583	missense	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98581850G>A	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.9169G>A	7.37:g.98581850G>A	ENSP00000352925:p.Ala3057Thr					TRRAP_uc011kis.1_Missense_Mutation_p.A3028T|TRRAP_uc003upr.2_Missense_Mutation_p.A2745T	p.A3057T	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		60	9378	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		3057			FAT.		A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	c.9169G>A	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	G	36	5.797266	0.96952	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	D;D	0.87334	-2.24;-1.64	5.26	5.26	0.73747	PIK-related kinase (1);PIK-related kinase, FAT (1);	0.000000	0.85682	D	0.000000	D	0.90270	0.6957	L	0.46157	1.445	0.80722	D	1	D;D;D	0.58970	0.96;0.969;0.984	P;P;P	0.58013	0.469;0.65;0.831	D	0.91287	0.5056	10	0.87932	D	0	.	18.8704	0.92311	0.0:0.0:1.0:0.0	.	3028;2767;3057	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	T	3057;3028;3027	ENSP00000352925:A3057T;ENSP00000347733:A3028T	ENSP00000347733:A3028T	A	+	1	0	TRRAP	98419786	1.000000	0.71417	0.990000	0.47175	0.987000	0.75469	9.750000	0.98875	2.481000	0.83766	0.655000	0.94253	GCT		0.448	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496	
ZCWPW1	55063	broad.mit.edu	37	7	99998699	99998699	+	Missense_Mutation	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr7:99998699C>T	ENST00000398027.2	-	18	2132	c.1885G>A	c.(1885-1887)Ggg>Agg	p.G629R	ZCWPW1_ENST00000324725.6_Missense_Mutation_p.G458R|ZCWPW1_ENST00000360951.4_3'UTR|ZCWPW1_ENST00000490721.1_Missense_Mutation_p.G458R	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	629							zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGCAGCTCCCCGCTCTGCCCC	0.602																																						uc003uut.2																			0					0						c.(1885-1887)GGG>AGG		zinc finger, CW type with PWWP domain 1							49.0	52.0	51.0					7																	99998699		2067	4211	6278	SO:0001583	missense	55063						zinc ion binding	g.chr7:99998699C>T	AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"""zinc finger, CW-type with PWWP domain 1"""			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.1885G>A	7.37:g.99998699C>T	ENSP00000381109:p.Gly629Arg					ZCWPW1_uc011kjq.1_Missense_Mutation_p.G509R|ZCWPW1_uc003uur.2_3'UTR|ZCWPW1_uc003uus.2_Missense_Mutation_p.G458R|ZCWPW1_uc011kjr.1_3'UTR|ZCWPW1_uc011kjp.1_RNA	p.G629R	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN			18	2133	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		629					A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Missense_Mutation	SNP	ENST00000398027.2	37	c.1885G>A	CCDS43623.1	.	.	.	.	.	.	.	.	.	.	C	11.71	1.719759	0.30503	.	.	ENSG00000078487	ENST00000398027;ENST00000490721;ENST00000324725	T;T;T	0.48522	0.87;0.81;0.81	5.04	4.16	0.48862	.	.	.	.	.	T	0.41259	0.1151	N	0.24115	0.695	0.09310	N	1	D;D;B	0.63880	0.993;0.993;0.18	P;P;B	0.50934	0.654;0.654;0.013	T	0.13335	-1.0513	8	.	.	.	-1.4401	9.5369	0.39229	0.0:0.905:0.0:0.095	.	590;629;458	B4DXS7;Q9H0M4;Q9H0M4-4	.;ZCPW1_HUMAN;.	R	629;458;458	ENSP00000381109:G629R;ENSP00000419187:G458R;ENSP00000314880:G458R	.	G	-	1	0	ZCWPW1	99836635	0.001000	0.12720	0.005000	0.12908	0.000000	0.00434	1.149000	0.31626	1.508000	0.48769	-0.136000	0.14681	GGG		0.602	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	NM_017984	
NEFM	4741	broad.mit.edu	37	8	24772136	24772136	+	Missense_Mutation	SNP	T	T	C			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr8:24772136T>C	ENST00000221166.5	+	1	1612	c.830T>C	c.(829-831)cTc>cCc	p.L277P	GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000518131.1_Missense_Mutation_p.L277P|RP11-624C23.1_ENST00000519689.1_RNA|NEFM_ENST00000433454.2_5'Flank|NEFM_ENST00000437366.2_Missense_Mutation_p.L277P|NEFM_ENST00000521540.1_3'UTR			P07197	NFM_HUMAN	neurofilament, medium polypeptide	277	Coil 2A.|Rod.				axon cargo transport (GO:0008088)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|regulation of axon diameter (GO:0031133)	axon (GO:0030424)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)|neuromuscular junction (GO:0031594)	microtubule binding (GO:0008017)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CGCTCCCAGCTCGAAAGCCAC	0.587																																						uc003xed.3																			0				breast(1)	1						c.(829-831)CTC>CCC		neurofilament, medium polypeptide 150kDa isoform							122.0	102.0	109.0					8																	24772136		2203	4300	6503	SO:0001583	missense	4741					neurofilament	protein binding|structural constituent of cytoskeleton	g.chr8:24772136T>C	BC002421	CCDS6046.1, CCDS47831.1	8p21	2013-01-16	2008-09-19	2006-11-20	ENSG00000104722	ENSG00000104722		"""Intermediate filaments type IV"""	7734	protein-coding gene	gene with protein product		162250	"""neurofilament, medium polypeptide 150kDa"""	NEF3		1348579	Standard	NM_001105541		Approved	NFM, NF-M	uc003xed.4	P07197	OTTHUMG00000131990	ENST00000221166.5:c.830T>C	8.37:g.24772136T>C	ENSP00000221166:p.Leu277Pro					NEFM_uc011lac.1_Missense_Mutation_p.L277P|NEFM_uc010lue.2_5'Flank|uc010luc.1_5'UTR	p.L277P	NM_005382	NP_005373	P07197	NFM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)	1	863	+		Prostate(55;0.157)	277			Rod.|Coil 2A.		B4DGN2|E9PBF7|Q4QRK6	Missense_Mutation	SNP	ENST00000221166.5	37	c.830T>C	CCDS6046.1	.	.	.	.	.	.	.	.	.	.	T	19.61	3.860355	0.71834	.	.	ENSG00000104722	ENST00000221166;ENST00000518131;ENST00000437366	D;D;D	0.89343	-2.5;-2.5;-2.5	4.69	4.69	0.59074	Filament (1);	0.000000	0.39083	N	0.001476	D	0.93996	0.8077	M	0.78801	2.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94775	0.7948	10	0.87932	D	0	.	14.435	0.67274	0.0:0.0:0.0:1.0	.	277;277	E7EMV2;P07197	.;NFM_HUMAN	P	277	ENSP00000221166:L277P;ENSP00000427872:L277P;ENSP00000410137:L277P	ENSP00000221166:L277P	L	+	2	0	NEFM	24828041	1.000000	0.71417	1.000000	0.80357	0.784000	0.44337	3.324000	0.52022	1.873000	0.54277	0.383000	0.25322	CTC		0.587	NEFM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254954.2	NM_005382	
ANK1	286	broad.mit.edu	37	8	41753935	41753935	+	Missense_Mutation	SNP	G	G	C			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr8:41753935G>C	ENST00000265709.8	-	1	345	c.64C>G	c.(64-66)Cag>Gag	p.Q22E		NM_001142446.1	NP_001135918.1	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	0	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TTCTCCTTCTGCTCCTGGAGG	0.637																																						uc003xom.2																			0				ovary(3)|central_nervous_system(3)|lung(2)|breast(1)	9						c.(64-66)CAG>GAG		ankyrin 1 isoform 9							73.0	64.0	67.0					8																	41753935		1568	3582	5150	SO:0001583	missense	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41753935G>C	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000265709.8:c.64C>G	8.37:g.41753935G>C	ENSP00000265709:p.Gln22Glu						p.Q22E	NM_001142446	NP_001135918	P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		1	346	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	Error:Variant_position_missing_in_P16157_after_alignment					A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000265709.8	37	c.64C>G	CCDS47849.1	.	.	.	.	.	.	.	.	.	.	g	5.814	0.334515	0.11013	.	.	ENSG00000029534	ENST00000265709	T	0.63580	-0.05	3.57	3.57	0.40892	.	.	.	.	.	T	0.38983	0.1061	.	.	.	0.80722	D	1	B	0.27656	0.184	B	0.24155	0.051	T	0.35649	-0.9780	8	0.02654	T	1	.	15.1669	0.72837	0.0:0.0:1.0:0.0	.	22	P16157-21	.	E	22	ENSP00000265709:Q22E	ENSP00000265709:Q22E	Q	-	1	0	ANK1	41873092	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.872000	0.75536	1.511000	0.48818	0.486000	0.48141	CAG		0.637	ANK1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377171.1	NM_020475	
RALYL	138046	broad.mit.edu	37	8	85774569	85774569	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr8:85774569G>A	ENST00000521268.1	+	6	1557	c.452G>A	c.(451-453)cGt>cAt	p.R151H	RALYL_ENST00000517638.1_Missense_Mutation_p.R164H|RALYL_ENST00000523850.1_Missense_Mutation_p.R78H|RALYL_ENST00000518566.1_Missense_Mutation_p.R140H|RALYL_ENST00000521695.1_Missense_Mutation_p.R151H|RALYL_ENST00000522455.1_Missense_Mutation_p.R151H|RALYL_ENST00000521376.1_Missense_Mutation_p.R62H	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	151							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						CCACCTCCCCGTGCAGTAATT	0.498																																						uc003ycq.3																			0				ovary(1)	1						c.(451-453)CGT>CAT		RALY RNA binding protein-like isoform 2							56.0	56.0	56.0					8																	85774569		1903	4127	6030	SO:0001583	missense	138046						identical protein binding|nucleotide binding|RNA binding	g.chr8:85774569G>A		CCDS55252.1, CCDS55253.1, CCDS75760.1, CCDS75761.1	8q21.2	2013-07-16			ENSG00000184672	ENSG00000184672		"""RNA binding motif (RRM) containing"""	27036	protein-coding gene	gene with protein product		614648				12688537	Standard	NM_001100391		Approved	HNRPCL3	uc003yct.4	Q86SE5	OTTHUMG00000164628	ENST00000521268.1:c.452G>A	8.37:g.85774569G>A	ENSP00000430367:p.Arg151His					RALYL_uc003ycr.3_Missense_Mutation_p.R151H|RALYL_uc003ycs.3_Missense_Mutation_p.R151H|RALYL_uc010lzy.2_Missense_Mutation_p.R140H|RALYL_uc003yct.3_Missense_Mutation_p.R164H|RALYL_uc003ycu.3_Missense_Mutation_p.R78H|RALYL_uc003ycv.3_Missense_Mutation_p.R63H	p.R151H	NM_001100392	NP_001093862	Q86SE5	RALYL_HUMAN			7	868	+			151					B3KTH2|G3V129|Q6ZW87|Q8N1C2	Missense_Mutation	SNP	ENST00000521268.1	37	c.452G>A	CCDS55253.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.000863	0.74818	.	.	ENSG00000184672	ENST00000522455;ENST00000521695;ENST00000521268;ENST00000518566;ENST00000517638;ENST00000523850;ENST00000521376	T;T;T;T;T;T;T	0.23348	2.63;2.63;2.63;2.56;2.62;2.15;1.91	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.53706	0.1813	M	0.75264	2.295	0.43250	D	0.99517	D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;1.0	P;D;D;D;D	0.87578	0.899;0.994;0.998;0.993;0.994	T	0.53718	-0.8399	10	0.51188	T	0.08	-3.6618	19.1979	0.93696	0.0:0.0:1.0:0.0	.	140;151;78;164;151	B3KT61;B3KSX3;Q86SE5-2;G3V129;Q86SE5	.;.;.;.;RALYL_HUMAN	H	151;151;151;140;164;78;62	ENSP00000430394:R151H;ENSP00000428667:R151H;ENSP00000430367:R151H;ENSP00000430065:R140H;ENSP00000430128:R164H;ENSP00000428807:R78H;ENSP00000428310:R62H	ENSP00000430128:R164H	R	+	2	0	RALYL	85937124	1.000000	0.71417	0.646000	0.29493	0.433000	0.31745	7.074000	0.76791	2.599000	0.87857	0.551000	0.68910	CGT		0.498	RALYL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379448.1		
KCNS2	3788	broad.mit.edu	37	8	99440635	99440635	+	Missense_Mutation	SNP	G	G	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr8:99440635G>A	ENST00000287042.4	+	2	778	c.428G>A	c.(427-429)aGc>aAc	p.S143N	KCNS2_ENST00000521839.1_Missense_Mutation_p.S143N	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	143					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			GACCAGGAGAGCACCACGTCT	0.582																																					Pancreas(138;844 2489 9202 24627)	uc003yin.2																			0				ovary(1)	1						c.(427-429)AGC>AAC		potassium voltage-gated channel,							99.0	108.0	105.0					8																	99440635		2203	4300	6503	SO:0001583	missense	3788					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:99440635G>A	AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.428G>A	8.37:g.99440635G>A	ENSP00000287042:p.Ser143Asn						p.S143N	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0448)		2	778	+	Breast(36;2.4e-06)		143			Cytoplasmic (Potential).		A8KAN1	Missense_Mutation	SNP	ENST00000287042.4	37	c.428G>A	CCDS6279.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980640	0.74474	.	.	ENSG00000156486	ENST00000287042;ENST00000521839	D;D	0.96554	-4.05;-4.05	5.31	5.31	0.75309	.	0.415259	0.24876	N	0.034886	D	0.97374	0.9141	L	0.50333	1.59	0.58432	D	0.999992	D	0.63880	0.993	D	0.70227	0.968	D	0.97983	1.0350	10	0.62326	D	0.03	.	18.9773	0.92742	0.0:0.0:1.0:0.0	.	143	Q9ULS6	KCNS2_HUMAN	N	143	ENSP00000287042:S143N;ENSP00000430712:S143N	ENSP00000287042:S143N	S	+	2	0	KCNS2	99509811	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.470000	0.83445	0.563000	0.77884	AGC		0.582	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1	NM_020697	
RP11-383M4.6	0	broad.mit.edu	37	9	84547720	84547720	+	lincRNA	SNP	G	G	C	rs138456481	byFrequency	TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr9:84547720G>C	ENST00000585776.1	-	0	1039				SPATA31D4_ENST00000341875.4_RNA|RP11-383M4.2_ENST00000427387.1_lincRNA																							TGAGGACCACGGCGTTGATAC	0.418													N|||	173	0.0345447	0.1006	0.0086	5008	,	,		17728	0.004		0.0258	False		,,,				2504	0.0041					uc004amh.2																			0					0						c.(2644-2646)GGC>CGC		hypothetical protein LOC389761																																						389761					integral to membrane		g.chr9:84547720G>C																													9.37:g.84547720G>C						uc004ami.1_Intron|uc004amj.1_5'Flank	p.G882R	NM_001145197	NP_001138669	Q6ZUB0	YI020_HUMAN			4	2730	+			882						Missense_Mutation	SNP	ENST00000585776.1	37	c.2644G>C																																																																																					0.418	RP11-383M4.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000453562.1		
Unknown	0	broad.mit.edu	37	9	88460853	88460853	+	IGR	SNP	A	A	G			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr9:88460853A>G								RP11-213G2.2 (54404 upstream) : NAA35 (95207 downstream)																							ACTGAAACACAAAAGCAGCTA	0.393																																						uc004aoh.1																			0											c.(337-339)CAA>CGA		RecName: Full=Kinesin-like protein KIF27;																																				SO:0001628	intergenic_variant	0							g.chr9:88460853A>G																													9.37:g.88460853A>G							p.Q113R							9	1441	+									Missense_Mutation	SNP		37	c.338A>G																																																																																				0	0.393								
SNX30	401548	broad.mit.edu	37	9	115598647	115598647	+	Missense_Mutation	SNP	A	A	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr9:115598647A>T	ENST00000374232.3	+	5	936	c.772A>T	c.(772-774)Acc>Tcc	p.T258S		NM_001012994.1	NP_001013012.1	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	258					apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)			large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						CAAACTGGGAACCATTGATCG	0.498																																						uc004bgj.3																			0					0						c.(772-774)ACC>TCC		sorting nexin family member 30							113.0	110.0	111.0					9																	115598647		1944	4141	6085	SO:0001583	missense	401548				cell communication|protein transport	cytoplasm	phosphatidylinositol binding	g.chr9:115598647A>T	AK126644	CCDS43865.1	9q33.1	2014-02-12			ENSG00000148158	ENSG00000148158		"""Sorting nexins"""	23685	protein-coding gene	gene with protein product							Standard	NM_001012994		Approved	ATG24A	uc004bgj.4	Q5VWJ9	OTTHUMG00000020512	ENST00000374232.3:c.772A>T	9.37:g.115598647A>T	ENSP00000363349:p.Thr258Ser					SNX30_uc004bgi.3_5'Flank	p.T258S	NM_001012994	NP_001013012	Q5VWJ9	SNX30_HUMAN			5	920	+			258						Missense_Mutation	SNP	ENST00000374232.3	37	c.772A>T	CCDS43865.1	.	.	.	.	.	.	.	.	.	.	A	15.83	2.947926	0.53186	.	.	ENSG00000148158	ENST00000374232	T	0.21191	2.02	5.8	5.8	0.92144	.	0.051928	0.85682	D	0.000000	T	0.14830	0.0358	L	0.34521	1.04	0.58432	D	0.999999	P	0.43431	0.807	B	0.34931	0.192	T	0.08534	-1.0717	10	0.12766	T	0.61	.	16.1405	0.81519	1.0:0.0:0.0:0.0	.	258	Q5VWJ9	SNX30_HUMAN	S	258	ENSP00000363349:T258S	ENSP00000363349:T258S	T	+	1	0	SNX30	114638468	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.315000	0.96313	2.214000	0.71695	0.533000	0.62120	ACC		0.498	SNX30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053700.1		
FRMD7	90167	broad.mit.edu	37	X	131212279	131212279	+	Missense_Mutation	SNP	C	C	A			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chrX:131212279C>A	ENST00000298542.4	-	12	1941	c.1766G>T	c.(1765-1767)aGg>aTg	p.R589M	FRMD7_ENST00000464296.1_Missense_Mutation_p.R574M|FRMD7_ENST00000370879.1_Missense_Mutation_p.R469M	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	589					regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					GCTCTGGGACCTTTTAGGGGT	0.433																																						uc004ewn.2																			0				skin(1)	1						c.(1765-1767)AGG>ATG		FERM domain containing 7							112.0	101.0	104.0					X																	131212279		2203	4300	6503	SO:0001583	missense	90167				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	g.chrX:131212279C>A	AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"""nystagmus 1, congenital"""	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.1766G>T	X.37:g.131212279C>A	ENSP00000298542:p.Arg589Met					FRMD7_uc011muy.1_Missense_Mutation_p.R574M	p.R589M	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN			12	1944	-	Acute lymphoblastic leukemia(192;0.000127)		589					C0LLJ3|Q5JX99	Missense_Mutation	SNP	ENST00000298542.4	37	c.1766G>T	CCDS35397.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.223052	0.58668	.	.	ENSG00000165694	ENST00000370879;ENST00000298542;ENST00000464296	D;D;D	0.90900	-2.75;-2.37;-2.46	5.26	5.26	0.73747	.	0.000000	0.64402	D	0.000010	D	0.94948	0.8366	M	0.71036	2.16	0.38144	D	0.93853	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.994	D	0.96404	0.9299	10	0.87932	D	0	.	18.0207	0.89253	0.0:1.0:0.0:0.0	.	574;589	Q6ZUT3-2;Q6ZUT3	.;FRMD7_HUMAN	M	469;589;574	ENSP00000359916:R469M;ENSP00000298542:R589M;ENSP00000417996:R574M	ENSP00000298542:R589M	R	-	2	0	FRMD7	131039960	0.999000	0.42202	0.997000	0.53966	0.694000	0.40290	5.868000	0.69605	2.190000	0.69967	0.594000	0.82650	AGG		0.433	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277	
GPR50	9248	broad.mit.edu	37	X	150349759	150349759	+	Silent	SNP	C	C	T			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chrX:150349759C>T	ENST00000218316.3	+	2	1773	c.1704C>T	c.(1702-1704)gcC>gcT	p.A568A	AF003625.3_ENST00000602313.1_lincRNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	568	Pro-rich.				cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CTAGCCCTGCCGCTGGGCCCA	0.602																																						uc010ntg.1																			0				large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						c.(1702-1704)GCC>GCT		G protein-coupled receptor 50							71.0	77.0	75.0					X																	150349759		2149	4240	6389	SO:0001819	synonymous_variant	9248				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	g.chrX:150349759C>T	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"""GPCR / Class A : Orphans"""	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.1704C>T	X.37:g.150349759C>T							p.A568A	NM_004224	NP_004215	Q13585	MTR1L_HUMAN			2	1839	+	Acute lymphoblastic leukemia(192;6.56e-05)		568			Cytoplasmic (Potential).|Pro-rich.		Q0VGG3|Q3ZAR0	Silent	SNP	ENST00000218316.3	37	c.1704C>T	CCDS44012.1																																																																																				0.602	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	NM_004224	
