#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_CCF_CI95_high	i_CCF_CI95_low	i_CCF_CI_high	i_CCF_CI_low	i_CCF_hat	i_CCF_mean	i_CCF_median	i_CCF_mode	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_CancerGermlineMut	i_CGC_CancerMolecularGenetics	i_CGC_CancerSomaticMut	i_CGC_CancerSyndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_ChrBand	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_OtherGermlineMut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_TissueType	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_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_ExAC_AC	i_ExAC_AN	i_ExAC_LQ	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_IS_SCNA	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_SCNA_NA	i_SCNA_NB	i_SCNA_q_hat	i_SCNA_tau	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_bcgsc	i_broad	i_build	i_cDNA_Change	i_ccds_id	i_clonal	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_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_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	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_dna_fraction_in_tumor	i_entrez_gene_id	i_external_id_capture	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_hgsc	i_igv_bad	i_localAssembly_detected	i_min_val_count_KRAS	i_min_val_count_localAssembly	i_min_val_count_rna	i_min_val_count_targeted	i_n_alt_count	i_n_alt_count_KRAS	i_n_alt_count_full	i_n_alt_count_localAssembly	i_n_ref_count	i_n_ref_count_KRAS	i_n_ref_count_full	i_n_ref_count_localAssembly	i_passExAC	i_ploidy	i_pon_loglike	i_pon_pass_loglike	i_purity	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_KRAS	i_t_alt_count_full	i_t_alt_count_localAssembly	i_t_ref_count_KRAS	i_t_ref_count_full	i_t_ref_count_localAssembly	i_ucsc	i_validation_judgement_KRAS	i_validation_judgement_localAssembly	i_validation_judgement_rna	i_validation_judgement_targeted	i_validation_normal_alt_count_rna	i_validation_normal_alt_count_targeted	i_validation_normal_ref_count_rna	i_validation_normal_ref_count_targeted	i_validation_power_KRAS	i_validation_power_localAssembly	i_validation_power_rna	i_validation_power_targeted	i_validation_tumor_alt_count_rna	i_validation_tumor_alt_count_targeted	i_validation_tumor_ref_count_rna	i_validation_tumor_ref_count_targeted	t_alt_count	t_ref_count
ITPR2	3709	broad.mit.edu	37	12	26809320	26809321	+	Frame_Shift_Ins	INS	-	-	T	rs374341078		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr12:26809320_26809321insT	ENST00000381340.3	-	19	2769_2770	c.2353_2354insA	c.(2353-2355)atgfs	p.M785fs		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	785					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|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)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	GTCAACGTGCATGTGGAGCATG	0.554																																						ENST00000381340.3	0.830000	5.800000e-01	0.770000	6.400000e-01	0.700000	0.711250	0.700000	0.700000																									ETV6/ITPR2(2)	0				125						c.(2353-2355)atgfs		inositol 1,4,5-trisphosphate receptor, type 2	Caffeine(DB00201)																																			SO:0001589	frameshift_variant	3709	0	0					g.chr12:26809320_26809321insT	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.2354dupA	chr12.hg19:g.26809321_26809321dupT	ENSP00000370744:p.Met785fs	0						p.M785fs	NM_002223.2	NP_002214.2	0	0	0	2.014243	Q14571	ITPR2_HUMAN		19	2769_2770	-	Colorectal(261;0.0847)		O94773	Frame_Shift_Ins	INS	ENST00000381340.3	0	1	hg19	c.2353_2354insA	CCDS41764.1	0																																																																																								0.658562		TCGA-HZ-A8P1-01A-11D-A377-08	0.554	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	1	0	1		2			0	0	0	0	125	0	125	124	1	1.880000	-5.232658	1	0.670000	NM_002223		0	97	99	0	298	295	0	0	1			0	0	125	0	0	1.000000			0	0	0	0	97	298
NYNRIN	57523	broad.mit.edu	37	14	24868592	24868593	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr14:24868592_24868593delAC	ENST00000382554.3	+	2	458_459	c.140_141delAC	c.(139-141)gacfs	p.D47fs		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	47					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AGCCGCCCGGACACCCCCTACT	0.604																																						ENST00000382554.3	0.780000	3.400000e-01	0.670000	4.300000e-01	0.540000	0.558759	0.540000	0.540000																										0				56						c.(139-141)gacfs		NYN domain and retroviral integrase containing																																				SO:0001589	frameshift_variant	57523	0	0					g.chr14:24868592_24868593delAC	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.140_141delAC	chr14.hg19:g.24868594_24868595delAC	ENSP00000371994:p.Asp47fs	0						p.D47fs	NM_025081.2	NP_079357.2	0	0	0	2.089217	Q9P2P1	NYNRI_HUMAN		2	458_459	+			Q6P153|Q86TR3|Q9HAC4	Frame_Shift_Del	DEL	ENST00000382554.3	1	1	hg19	c.140_141delAC	CCDS45090.1	0																																																																																								0.670000		TCGA-HZ-A8P1-01A-11D-A377-08	0.604	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1	1	0	0		2	2		0	0	0	0	34	0	34	35	1	1.880000	-20.000000	1	0.670000			0	18	20	0	81	82	0	0	1	0		0	0	34	0	0	0.999993	6.744615e-01		1	0	11	0	18	81
SMAD4	4089	broad.mit.edu	37	18	48575215	48575216	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08			-	T	-	-		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr18:48575215_48575216insT	ENST00000342988.3	+	3	947_948	c.409_410insT	c.(409-411)gtafs	p.V137fs	SMAD4_ENST00000452201.2_Frame_Shift_Ins_p.V137fs|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000398417.2_Frame_Shift_Ins_p.V137fs|SMAD4_ENST00000588745.1_Frame_Shift_Ins_p.V137fs	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	137	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(4)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CGAACGAGTTGTATCACCTGGA	0.307																																						ENST00000342988.3	0.720000	5.000000e-01	0.670000	5.500000e-01	0.610000	0.619723	0.610000	0.620000																										40	Whole gene deletion(36)|Unknown(4)	p.0?(36)|p.?(4)	pancreas(26)|large_intestine(3)|stomach(3)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)|NS(1)	454						c.(409-411)gtafs		SMAD family member 4																																				SO:0001589	frameshift_variant	4089	0	0					g.chr18:48575215_48575216insT	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.410dupT	chr18.hg19:g.48575216_48575216dupT	ENSP00000341551:p.Val137fs	1					SMAD4_ENST00000452201.2_Frame_Shift_Ins_p.V137fs|SMAD4_ENST00000588745.1_Frame_Shift_Ins_p.V137fs|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000398417.2_Frame_Shift_Ins_p.V137fs	p.V137fs	NM_005359.5	NP_005350.1	0	1	1	1.430727	Q13485	SMAD4_HUMAN		3	947_948	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	A8K405	Frame_Shift_Ins	INS	ENST00000342988.3	0	1	hg19	c.409_410insT	CCDS11950.1	0																																																																																								0.506247		TCGA-HZ-A8P1-01A-11D-A377-08	0.307	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	1	0	0		2	2	2	0	0	0	0	83	0	83	84	1	1.880000	-20.000000	1	0.670000	NM_005359		0	81	80	0	180	173	0	0	1	0	1	0	0	83	341	0	1.000000	6.027288e-01	1	0	142	6	315	81	180
RAB12	201475	broad.mit.edu	37	18	8636248	8636249	+	Splice_Site	DEL	CA	CA	-			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08			CA	-	CA	CA		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr18:8636248_8636249delCA	ENST00000329286.6	+	5	799		c.e5-1		RP11-661O13.1_ENST00000580267.1_RNA	NM_001025300.2	NP_001020471.2	Q6IQ22	RAB12_HUMAN	RAB12, member RAS oncogene family						autophagy (GO:0006914)|cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|recycling endosome membrane (GO:0055038)|secretory granule (GO:0030141)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			breast(1)|lung(4)|prostate(1)|urinary_tract(1)	7						TGTTTCTTCTCAGTTTGCACAG	0.495																																						ENST00000329286.6	1.000000	4.700000e-01	0.740000	5.500000e-01	0.630000	0.654574	0.630000	0.620000																										0				7						c.e5-1		RAB12, member RAS oncogene family																																				SO:0001630	splice_region_variant	201475	0	0					g.chr18:8636248_8636249delCA		CCDS42410.1	18p11.22	2006-12-18				ENSG00000206418		"""RAB, member RAS oncogene"""	31332	protein-coding gene	gene with protein product							Standard	NM_001025300		Approved		uc002knp.3	Q6IQ22		ENST00000329286.6:c.517-1CA>-	chr18.hg19:g.8636248_8636249delCA		0					RP11-661O13.1_ENST00000580267.1_RNA		NM_001025300.2	NP_001020471.2	1	2	3	2.164012	Q6IQ22	RAB12_HUMAN		5	799	+			A6NEF5|Q4KMQ3	Splice_Site	DEL	ENST00000329286.6	1	1	hg19		CCDS42410.1	0																																																																																								0.676502		TCGA-HZ-A8P1-01A-11D-A377-08	0.495	RAB12-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444080.1	0	0	1		2	2		0	0	0	0	68	0	68	68	1	1.880000	-3.575013	1	0.670000	XM_113967	Intron	0	46	46	0	176	175	0	0	1	0		0	0	68	0	0	1.000000	9.999998e-01		1	0	94	0	46	176
ARID1A	8289	broad.mit.edu	37	1	27106178	27106178	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08			C	-	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:27106178delC	ENST00000324856.7	+	20	6160	c.5789delC	c.(5788-5790)tcafs	p.S1930fs	ARID1A_ENST00000540690.1_Frame_Shift_Del_p.S258fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.S1547fs|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.S1713fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1930					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCTAAGAGTTCAGAGGCCATC	0.522			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7	0.680000	5.100000e-01	0.650000	5.500000e-01	0.590000	0.605632	0.590000	0.600000				Rec	yes			Rec	yes		1	1p35.3	1p35.3	8289	Mis, N, F, S, D	AT rich interactive domain 1A (SWI-like)				E	E			clear cell ovarian carcinoma, RCC	ARID1A/MAST2_ENST00000361297(2)	0				411						c.(5788-5790)tcafs		AT rich interactive domain 1A (SWI-like)							129.0	125.0	127.0					1																	27106178		2203	4300	6503	SO:0001589	frameshift_variant	8289	0	0					g.chr1:27106178delC	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.5789delC	chr1.hg19:g.27106178delC	ENSP00000320485:p.Ser1930fs	1					ARID1A_ENST00000374152.2_Frame_Shift_Del_p.S1547fs|ARID1A_ENST00000540690.1_Frame_Shift_Del_p.S258fs|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.S1713fs	p.S1930fs	NM_006015.4	NP_006006.3	0	1	1	1.448612	O14497	ARI1A_HUMAN		20	6160	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Del	DEL	ENST00000324856.7	1	1	hg19	c.5789delC	CCDS285.1	0																																																																																								0.503759		TCGA-HZ-A8P1-01A-11D-A377-08	0.522	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	1	0	1		2	2	2	0	0	0	0	160	0	160	160	1	1.880000	-20.000000	1	0.670000	NM_139135		0	143	144	0	326	322	0	0	1	1	1	0	0	160	605	0	1.000000	9.999997e-01	1	23	201	30	569	143	326
SAMSN1	64092	broad.mit.edu	37	21	15889230	15889230	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr21:15889230delC	ENST00000400566.1	-	3	343	c.262delG	c.(262-264)gccfs	p.A88fs	SAMSN1_ENST00000285670.2_Frame_Shift_Del_p.A156fs|SAMSN1_ENST00000400564.1_Intron	NM_022136.4	NP_071419.3	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	88					negative regulation of adaptive immune response (GO:0002820)|negative regulation of B cell activation (GO:0050869)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)	cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)	phosphotyrosine binding (GO:0001784)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TCAGAAAGGGCTTTGATGTAC	0.318																																						ENST00000400566.1	0.560000	2.900000e-01	0.490000	3.500000e-01	0.410000	0.423432	0.410000	0.420000																										0				24						c.(262-264)gccfs		SAM domain, SH3 domain and nuclear localization signals 1							112.0	99.0	103.0					21																	15889230		1801	4065	5866	SO:0001589	frameshift_variant	64092	0	0					g.chr21:15889230delC	AF222927	CCDS42906.1, CCDS58786.1, CCDS74774.1	21q11	2013-01-10	2006-12-13		ENSG00000155307	ENSG00000155307		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	10528	protein-coding gene	gene with protein product	"""nuclear localization signals, SAM and SH3 domain containing 1"", ""SAM and SH3 domain containing 2"", ""hematopoietic adapter-containing SH3 and sterile &#945;-motif (SAM) domains 1"", ""Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2"""	607978				11536050, 11594764	Standard	NM_022136		Approved	NASH1, SASH2, SH3D6B, HACS1, SLy2	uc002yjv.1	Q9NSI8	OTTHUMG00000074317	ENST00000400566.1:c.262delG	chr21.hg19:g.15889230delC	ENSP00000383411:p.Ala88fs	0					SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000285670.2_Frame_Shift_Del_p.A156fs	p.A88fs	NM_022136.4	NP_071419.3	1	2	3	2.100437	Q9NSI8	SAMN1_HUMAN		3	343	-			B3KWJ3|F8WAA1|Q8NFF7|Q9C041	Frame_Shift_Del	DEL	ENST00000400566.1			hg19	c.262delG	CCDS42906.1	0																																																																																								0.671102		TCGA-HZ-A8P1-01A-11D-A377-08	0.318	SAMSN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157914.1		0	1		2	2		0	0	0	0	83	0	83	83	1	1.880000	-20.000000	1	0.670000			0	33	34	0	205	201		0	1	0		0	0	83	0	0	1.000000	1.003573e-01		0	0	4	0	33	205
SDK1	221935	broad.mit.edu	37	7	3991368	3991378	+	Frame_Shift_Del	DEL	GGAGGACCTGA	GGAGGACCTGA	-			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr7:3991368_3991378delGGAGGACCTGA	ENST00000404826.2	+	7	1105_1115	c.966_976delGGAGGACCTGA	c.(964-978)gtggaggacctgagtfs	p.EDLS323fs	SDK1_ENST00000389531.3_Frame_Shift_Del_p.EDLS323fs	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	323	Ig-like C2-type 3.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.V322V(1)		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)		ACAGGCCTGTGGAGGACCTGAGTGTGACCTG	0.583																																						ENST00000404826.2	0.650000	3.900000e-01	0.590000	4.500000e-01	0.510000	0.524617	0.510000	0.520000																										1	Substitution - coding silent(1)	p.V322V(1)	lung(1)	153						c.(964-978)gtggaggacctgagtfs		sidekick cell adhesion molecule 1																																				SO:0001589	frameshift_variant	221935	0	0					g.chr7:3991368_3991378delGGAGGACCTGA	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.966_976delGGAGGACCTGA	chr7.hg19:g.3991368_3991378delGGAGGACCTGA	ENSP00000385899:p.Glu323fs	0					SDK1_ENST00000389531.3_Frame_Shift_Del_p.EDLS323fs	p.EDLS323fs	NM_152744.3	NP_689957.3	0	0	0	2.082795	Q7Z5N4	SDK1_HUMAN		7	1105_1115	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	Q8TEN9|Q8TEP5|Q96N44	Frame_Shift_Del	DEL	ENST00000404826.2	1	1	hg19	c.966_976delGGAGGACCTGA	CCDS34590.1	0																																																																																								0.670000		TCGA-HZ-A8P1-01A-11D-A377-08	0.583	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	1	0	1		2	2		0	0	0	0	66	0	66	65	1	1.880000	-3.210836	1	0.670000	NM_152744		0	49	50	0	233	233	0	0	1	0		0	0	66	0	0	1.000000	1.050271e-13		0	0	1	0	49	233
ECD	11319	broad.mit.edu	37	10	74912158	74912158	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr10:74912158A>G	ENST00000372979.4	-	7	1011	c.805T>C	c.(805-807)Tat>Cat	p.Y269H	ECD_ENST00000430082.2_Missense_Mutation_p.Y269H|ECD_ENST00000454759.2_Intron	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	269					cell proliferation (GO:0008283)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of glycolytic process (GO:0006110)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					AATTGTGCATATAGACATTTA	0.433																																						ENST00000372979.4	1.000000	8.800000e-01	1.000000	9.600000e-01	0.990000	0.986498	0.990000	1.000000																										0				21						c.(805-807)Tat>Cat		ecdysoneless homolog (Drosophila)							88.0	81.0	84.0					10																	74912158		2203	4300	6503	SO:0001583	missense	11319	0	0					g.chr10:74912158A>G	BC000721	CCDS7321.1, CCDS44433.1, CCDS44434.1	10q22.3	2006-02-07				ENSG00000122882			17029	protein-coding gene	gene with protein product						9928932, 15128659	Standard	NM_007265		Approved	hSGT1, GCR2	uc001jtn.3	O95905		ENST00000372979.4:c.805T>C	chr10.hg19:g.74912158A>G	ENSP00000362070:p.Tyr269His	0					ECD_ENST00000454759.2_Intron|ECD_ENST00000430082.2_Missense_Mutation_p.Y269H	p.Y269H	NM_007265.2	NP_009196.1	1	2	3	2.135652	O95905	SGT1_HUMAN		7	1011	-	Prostate(51;0.0119)		C9JX46|E9PAW8	Missense_Mutation	SNP	ENST00000372979.4	1	1	hg19	c.805T>C	CCDS7321.1	1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.845475	0.91197	.	.	ENSG00000122882	ENST00000372979;ENST00000430082;ENST00000453402	T;T;T	0.43688	0.94;0.94;0.94	5.91	5.91	0.95273	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.72293	0.3442	M	0.92649	3.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79636	-0.1721	10	0.87932	D	0	-18.1447	14.2899	0.66270	1.0:0.0:0.0:0.0	.	269;269	C9JX46;O95905	.;SGT1_HUMAN	H	269;269;195	ENSP00000362070:Y269H;ENSP00000401566:Y269H;ENSP00000391367:Y195H	ENSP00000362070:Y269H	Y	-	1	0	0	ECD	74582164	74582164	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.234000	0.95347	2.255000	0.74692	0.533000	0.62120	TAT	0.674364		TCGA-HZ-A8P1-01A-11D-A377-08	0.433	ECD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048606.1	1	0	1	2	2	2	2	0	0	0	0	96	96	96	96	1	1.880000	-20.000000	1	0.670000	NM_007265		0	96	92	0	180	178	1		1	1		0	0	96	0	0	1.000000	9.999713e-01	0	11	0	22	0	96	180
CDHR1	92211	broad.mit.edu	37	10	85968486	85968486	+	Splice_Site	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr10:85968486G>A	ENST00000372117.3	+	12	1272	c.1169G>A	c.(1168-1170)gGa>gAa	p.G390E	CDHR1_ENST00000440770.2_Splice_Site_p.G149E|CDHR1_ENST00000332904.3_Splice_Site_p.G390E	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	390	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						ATTCTCTAGGGAGCCAATGCC	0.453																																						ENST00000372117.3	1.000000	5.600000e-01	0.900000	6.600000e-01	0.770000	0.780856	0.770000	0.760000																										0				36						c.(1168-1170)gGa>gAa		cadherin-related family member 1							69.0	69.0	69.0					10																	85968486		2203	4300	6503	SO:0001630	splice_region_variant	92211	0	0					g.chr10:85968486G>A	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.1168-1G>A	chr10.hg19:g.85968486G>A		0					CDHR1_ENST00000332904.3_Splice_Site_p.G390E|CDHR1_ENST00000440770.2_Splice_Site_p.G149E	p.G390E	NM_033100.2	NP_149091.1	1	2	3	2.135652	Q96JP9	CDHR1_HUMAN		12	1272	+			Q69YZ8|Q8IXY5	Splice_Site	SNP	ENST00000372117.3	1	0	hg19	c.1169G>A	CCDS7372.1	0	.	.	.	.	.	.	.	.	.	.	G	26.1	4.705035	0.88924	.	.	ENSG00000148600	ENST00000332904;ENST00000372117;ENST00000440770	T;T;T	0.64991	-0.05;-0.05;-0.13	5.53	5.53	0.82687	5.53	5.53	0.82687	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.83866	0.5347	M	0.90922	3.16	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.86541	0.1828	10	0.56958	D	0.05	-10.8744	18.2373	0.89954	0.0:0.0:1.0:0.0	.	149;390;390	E7EN47;Q96JP9-2;Q96JP9	.;.;CDHR1_HUMAN	E	390;390;149	ENSP00000331063:G390E;ENSP00000361189:G390E;ENSP00000415980:G149E	ENSP00000331063:G390E	G	+	2	0	0	CDHR1	85958466	85958466	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	9.476000	0.97823	2.599000	0.87857	0.655000	0.94253	GGA	0.674364		TCGA-HZ-A8P1-01A-11D-A377-08	0.453	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	1	0	1	2	2	2	2	0	0	0	0	47	47	47	47	1	1.880000	-20.000000	1	0.670000	NM_033100	Missense_Mutation	0	34	34	0	100	98	1		1			0	0	47	0	0	1.000000	0	0	0	0	0	0	34	100
BTRC	8945	broad.mit.edu	37	10	103239151	103239151	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr10:103239151C>G	ENST00000370187.3	+	4	379	c.261C>G	c.(259-261)tgC>tgG	p.C87W	BTRC_ENST00000393441.4_Missense_Mutation_p.C46W|BTRC_ENST00000408038.2_Missense_Mutation_p.C51W	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	87					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CCAGACTCTGCTTAAACCAAG	0.353																																						ENST00000370187.3	1.000000	8.400000e-01	1.000000	9.300000e-01	0.990000	0.975694	0.990000	1.000000																										0				27						c.(259-261)tgC>tgG		beta-transducin repeat containing E3 ubiquitin protein ligase							108.0	100.0	102.0					10																	103239151		2203	4300	6503	SO:0001583	missense	8945	0	0					g.chr10:103239151C>G	Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1144	protein-coding gene	gene with protein product		603482	"""beta-transducin repeat containing"""			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.261C>G	chr10.hg19:g.103239151C>G	ENSP00000359206:p.Cys87Trp	0					BTRC_ENST00000393441.4_Missense_Mutation_p.C46W|BTRC_ENST00000408038.2_Missense_Mutation_p.C51W	p.C87W	NM_033637.3	NP_378663.1	1	2	3	2.135652	Q9Y297	FBW1A_HUMAN		4	379	+		Colorectal(252;0.234)	B5MD49|Q5W141|Q5W142|Q9Y213	Missense_Mutation	SNP	ENST00000370187.3	1	1	hg19	c.261C>G	CCDS7512.1	1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.988372	0.74589	.	.	ENSG00000166167	ENST00000370187;ENST00000393441;ENST00000408038;ENST00000539411;ENST00000370183	T;T;T	0.62232	0.24;0.3;0.04	5.35	5.35	0.76521	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000002	T	0.58949	0.2158	N	0.19112	0.55	0.58432	D	0.999999	P;P;D	0.54047	0.939;0.876;0.964	P;P;P	0.49853	0.506;0.609;0.624	T	0.61337	-0.7083	10	0.45353	T	0.12	-10.7863	19.4281	0.94754	0.0:1.0:0.0:0.0	.	61;51;87	B7Z3H4;Q9Y297-2;Q9Y297	.;.;FBW1A_HUMAN	W	87;46;51;25;69	ENSP00000359206:C87W;ENSP00000377088:C46W;ENSP00000385339:C51W	ENSP00000359202:C69W	C	+	3	2	2	BTRC	103229141	103229141	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.933000	0.63484	2.642000	0.89623	0.655000	0.94253	TGC	0.674364		TCGA-HZ-A8P1-01A-11D-A377-08	0.353	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049936.1	1	0	1	2	2	2	2	0	0	0	0	86	86	86	86	1	1.880000	-20.000000	1	0.670000	NM_033637		0	90	89	0	177	175	1		1	1		0	0	86	0	0	1.000000	8.974060e-01	0	2	0	8	0	90	177
DSCAML1	57453	broad.mit.edu	37	11	117376404	117376404	+	Silent	SNP	G	G	A	rs140529836	byFrequency	TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr11:117376404G>A	ENST00000321322.6	-	9	2008	c.2007C>T	c.(2005-2007)atC>atT	p.I669I	DSCAML1_ENST00000527706.1_Silent_p.I399I	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	609	Ig-like C2-type 7.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GCAGCTGGCCGATGGAGGCGG	0.637													G|||	5	0.000998403	0.0038	0.0	5008	,	,		18888	0.0		0.0	False		,,,				2504	0.0					ENST00000321322.6	0.860000	4.700000e-01	0.760000	5.500000e-01	0.650000	0.659468	0.650000	0.640000																										0				110						c.(2005-2007)atC>atT		Down syndrome cell adhesion molecule like 1		G		4,4398	8.1+/-20.4	0,4,2197	80.0	64.0	69.0		2007	-3.8	0.9	11	dbSNP_134	69	0,8592		0,0,4296	no	coding-synonymous	DSCAML1	NM_020693.2		0,4,6493	AA,AG,GG		0.0,0.0909,0.0308		669/2114	117376404	4,12990	2201	4296	6497	SO:0001819	synonymous_variant	57453	19	121412	44				g.chr11:117376404G>A		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.2007C>T	chr11.hg19:g.117376404G>A		0					DSCAML1_ENST00000527706.1_Silent_p.I399I	p.I669I	NM_020693.2	NP_065744.2	1	2	3	2.097972	Q8TD84	DSCL1_HUMAN		9	2008	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	ENST00000321322.6	1	1	hg19	c.2007C>T	CCDS8384.1	0																																																																																								0.671102		TCGA-HZ-A8P1-01A-11D-A377-08	0.637	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	1	0	1	2	2	2	2	0	0	0	0	33	33	33	29	1	1.880000	-3.715768	1	0.670000	NM_020693		0	35	35	0	126	124	1		1			0	0	33	0	0	1.000000	0	0	0	0	0	0	35	126
IFT46	56912	broad.mit.edu	37	11	118416125	118416125	+	Splice_Site	SNP	T	T	C			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr11:118416125T>C	ENST00000264021.3	-	11	1236	c.818A>G	c.(817-819)cAg>cGg	p.Q273R	IFT46_ENST00000264020.2_Splice_Site_p.Q324R|TMEM25_ENST00000442938.2_Intron|IFT46_ENST00000530872.1_Intron|TMEM25_ENST00000354284.4_Intron	NM_001168618.1	NP_001162089.1	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46	273					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)|protein stabilization (GO:0050821)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)	protein C-terminus binding (GO:0008022)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						TTGGCTCACCTGTGAGTTCTT	0.463																																						ENST00000264021.3	1.000000	8.700000e-01	1.000000	9.300000e-01	0.990000	0.978225	0.990000	1.000000																										0				9						c.(817-819)cAg>cGg		intraflagellar transport 46							132.0	135.0	134.0					11																	118416125		2200	4295	6495	SO:0001630	splice_region_variant	56912	0	0					g.chr11:118416125T>C	AL136934	CCDS8399.1, CCDS53718.1	11q23.3	2014-07-18	2014-07-03	2010-04-22	ENSG00000118096	ENSG00000118096		"""Intraflagellar transport homologs"""	26146	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 32"""		"""chromosome 11 open reading frame 60"", ""intraflagellar transport 46 homolog (Chlamydomonas)"""	C11orf60		10873569, 19253336	Standard	NM_020153		Approved	C11orf2, FLJ21827, CFAP32	uc001pto.2	Q9NQC8	OTTHUMG00000166408	ENST00000264021.3:c.819+1A>G	chr11.hg19:g.118416125T>C		0					TMEM25_ENST00000442938.2_Intron|IFT46_ENST00000530872.1_Intron|IFT46_ENST00000264020.2_Splice_Site_p.Q324R|TMEM25_ENST00000354284.4_Intron	p.Q273R	NM_001168618.1	NP_001162089.1	1	2	3	2.097972	Q9NQC8	IFT46_HUMAN		11	1236	-			A8K0F6|Q9H6V5	Splice_Site	SNP	ENST00000264021.3	1	0	hg19	c.818A>G	CCDS53718.1	1	.	.	.	.	.	.	.	.	.	.	T	19.07	3.756597	0.69648	.	.	ENSG00000118096	ENST00000264021;ENST00000264020	T;T	0.51325	0.74;0.71	6.03	6.03	0.97812	6.03	6.03	0.97812	.	0.122109	0.56097	D	0.000029	T	0.72630	0.3484	M	0.86740	2.835	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.70935	0.971;0.964	T	0.75906	-0.3152	10	0.48119	T	0.1	-1.6128	16.5655	0.84588	0.0:0.0:0.0:1.0	.	273;324	Q9NQC8;Q9NQC8-2	IFT46_HUMAN;.	R	273;324	ENSP00000264021:Q273R;ENSP00000264020:Q324R	ENSP00000264020:Q324R	Q	-	2	0	0	IFT46	117921335	117921335	1.000000	0.71417	1.000000	0.80357	0.229000	0.25112	6.966000	0.76073	2.302000	0.77476	0.533000	0.62120	CAG	0.671102		TCGA-HZ-A8P1-01A-11D-A377-08	0.463	IFT46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389627.1	1	0	0	2	2	2	2	0	0	0	0	159	159	159	159	1	1.880000	-20.000000	1	0.670000	NM_020153	Missense_Mutation	0	169	169	0	334	332	1		1	1		0	0	159	0	0	1.000000	1	0	15	0	38	0	169	334
OR5M8	219484	broad.mit.edu	37	11	56258789	56258789	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr11:56258789G>A	ENST00000327216.2	-	1	82	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	20						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TGTAATTCCCGGCGACTGGTC	0.478																																						ENST00000327216.2	1.000000	7.800000e-01	0.990000	8.400000e-01	0.910000	0.918590	0.910000	1.000000																										0				37						c.(58-60)Cgg>Tgg		olfactory receptor, family 5, subfamily M, member 8							79.0	84.0	82.0					11																	56258789		2201	4296	6497	SO:0001583	missense	219484	1	121410	39				g.chr11:56258789G>A	AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"""GPCR / Class A : Olfactory receptors"""	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.58C>T	chr11.hg19:g.56258789G>A	ENSP00000323354:p.Arg20Trp	0						p.R20W	NM_001005282.1	NP_001005282.1	1	2	3	2.094609	Q8NGP6	OR5M8_HUMAN		1	82	-	Esophageal squamous(21;0.00352)		B2RNM5|Q6IEW3|Q96RB8	Missense_Mutation	SNP	ENST00000327216.2	1	1	hg19	c.58C>T	CCDS31533.1	1	.	.	.	.	.	.	.	.	.	.	G	9.701	1.154606	0.21371	.	.	ENSG00000181371	ENST00000327216	T	0.00012	9.32	4.13	-0.307	0.12777	4.13	-0.307	0.12777	.	1.292630	0.06259	U	0.693636	T	0.00073	0.0002	N	0.11023	0.085	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.14282	-1.0478	10	0.87932	D	0	0.1659	2.6013	0.04867	0.0964:0.1586:0.2929:0.4521	.	20	Q8NGP6	OR5M8_HUMAN	W	20	ENSP00000323354:R20W	ENSP00000323354:R20W	R	-	1	2	2	OR5M8	56015365	56015365	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.367000	0.20382	-0.005000	0.14395	-1.826000	0.00596	CGG	0.671102		TCGA-HZ-A8P1-01A-11D-A377-08	0.478	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	1	0	1	2	2	2	2	0	0	0	0	100	100	100	100	1	1.880000	-9.293573	1	0.670000	NM_001005282		0	117	116	0	263	262	1		1			0	0	100	0	0	1.000000	0	0	0	0	0	0	117	263
CORO1B	57175	broad.mit.edu	37	11	67209273	67209273	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr11:67209273C>G	ENST00000341356.5	-	4	495	c.385G>C	c.(385-387)Gag>Cag	p.E129Q	CORO1B_ENST00000545016.1_Missense_Mutation_p.E129Q|CORO1B_ENST00000393893.1_Missense_Mutation_p.E129Q|CORO1B_ENST00000539724.1_5'Flank|CORO1B_ENST00000453768.2_Missense_Mutation_p.E129Q	NM_020441.2	NP_065174.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	129					actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|endothelial cell chemotaxis (GO:0035767)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|positive regulation of lamellipodium morphogenesis (GO:2000394)|protein localization to cell leading edge (GO:1902463)|ruffle organization (GO:0031529)|wound healing (GO:0042060)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|identical protein binding (GO:0042802)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GTGTGCCCCTCCAGTACCACC	0.667																																						ENST00000341356.5	0.810000	4.700000e-01	0.720000	5.500000e-01	0.630000	0.639338	0.630000	0.630000																										0				13						c.(385-387)Gag>Cag		coronin, actin binding protein, 1B							68.0	53.0	58.0					11																	67209273		2200	4295	6495	SO:0001583	missense	57175	0	0					g.chr11:67209273C>G	AK000860	CCDS8164.1	11q13.1	2013-01-10	2001-11-28		ENSG00000172725	ENSG00000172725		"""Coronins"", ""WD repeat domain containing"""	2253	protein-coding gene	gene with protein product		609849	"""coronin, actin-binding protein, 1B"""			9778037	Standard	NM_001018070		Approved	coronin-2	uc001olk.1	Q9BR76	OTTHUMG00000167775	ENST00000341356.5:c.385G>C	chr11.hg19:g.67209273C>G	ENSP00000340211:p.Glu129Gln	0					CORO1B_ENST00000453768.2_Missense_Mutation_p.E129Q|CORO1B_ENST00000545016.1_Missense_Mutation_p.E129Q|CORO1B_ENST00000393893.1_Missense_Mutation_p.E129Q|CORO1B_ENST00000539724.1_5'Flank	p.E129Q	NM_020441.2	NP_065174.1	1	2	3	2.094609	Q9BR76	COR1B_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)	4	495	-			B2RD45	Missense_Mutation	SNP	ENST00000341356.5	1	1	hg19	c.385G>C	CCDS8164.1	0	.	.	.	.	.	.	.	.	.	.	C	13.02	2.110965	0.37242	.	.	ENSG00000172725	ENST00000393893;ENST00000341356;ENST00000393886;ENST00000453768;ENST00000545016	T;T;T;T	0.60548	0.18;0.18;0.18;0.18	4.6	3.66	0.41972	4.6	3.66	0.41972	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.38548	N	0.001648	T	0.38214	0.1032	N	0.12569	0.235	0.49582	D	0.9998	B;B;B	0.28933	0.03;0.054;0.228	B;B;B	0.30782	0.032;0.027;0.12	T	0.13098	-1.0522	10	0.15952	T	0.53	-30.956	14.16	0.65441	0.0:0.8485:0.1515:0.0	.	129;129;129	E7EW44;F5H0D2;Q9BR76	.;.;COR1B_HUMAN	Q	129;129;156;129;129	ENSP00000377471:E129Q;ENSP00000340211:E129Q;ENSP00000416006:E129Q;ENSP00000438056:E129Q	ENSP00000340211:E129Q	E	-	1	0	0	CORO1B	66965849	66965849	1.000000	0.71417	0.778000	0.31720	0.027000	0.11550	5.697000	0.68295	1.094000	0.41399	0.563000	0.77884	GAG	0.671102		TCGA-HZ-A8P1-01A-11D-A377-08	0.667	CORO1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396220.1	1	0	1	2	2	2	2	0	0	0	0	47	47	47	47	1	1.880000	-3.720150	1	0.670000	NM_020441		0	45	45	0	168	167	1		1	1		0	0	47	0	0	1.000000	1	0	124	0	248	0	45	168
KRTAP5-8	57830	broad.mit.edu	37	11	71249298	71249298	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr11:71249298C>G	ENST00000398534.3	+	1	228	c.197C>G	c.(196-198)tCc>tGc	p.S66C		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	66	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						TGTGGGGGCTCCAAGGGGGAC	0.662																																						ENST00000398534.3	0.080000	2.000000e-02	0.070000	3.000000e-02	0.040000	0.051552	0.040000	0.050000																										0				6						c.(196-198)tCc>tGc		keratin associated protein 5-8							91.0	123.0	112.0					11																	71249298		2195	4294	6489	SO:0001583	missense	57830	0	0					g.chr11:71249298C>G	AB126077	CCDS41683.1	11q13.4	2008-02-05			ENSG00000241233	ENSG00000241233		"""Keratin associated proteins"""	23603	protein-coding gene	gene with protein product						15144888	Standard	NM_021046		Approved	KRTAP5.8, UHSKerB, KRTAP5-2	uc001oqr.1	O75690	OTTHUMG00000057571	ENST00000398534.3:c.197C>G	chr11.hg19:g.71249298C>G	ENSP00000420723:p.Ser66Cys	0						p.S66C	NM_021046.2	NP_066384.2	1	2	3	2.094609	O75690	KRA58_HUMAN		1	228	+			Q6L8G7|Q6UTX6	Missense_Mutation	SNP	ENST00000398534.3	0	1	hg19	c.197C>G	CCDS41683.1	0	.	.	.	.	.	.	.	.	.	.	-	0.044	-1.272812	0.01421	.	.	ENSG00000241233	ENST00000398534	T	0.01464	4.86	1.57	-2.72	0.05968	1.57	-2.72	0.05968	.	.	.	.	.	T	0.00906	0.0030	N	0.05177	-0.1	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.47407	-0.9120	9	0.66056	D	0.02	.	1.4457	0.02364	0.2034:0.2381:0.404:0.1545	.	66	O75690	KRA58_HUMAN	C	66	ENSP00000420723:S66C	ENSP00000420723:S66C	S	+	2	0	0	KRTAP5-8	70926946	70926946	0.625000	0.27111	0.316000	0.25252	0.039000	0.13416	-0.432000	0.06956	-0.741000	0.04797	-0.287000	0.09952	TCC	0.671102		TCGA-HZ-A8P1-01A-11D-A377-08	0.662	KRTAP5-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127954.1	0	0	1	2	2	2	2	0	0	0	0	273	273	273	270	1	1.880000	-2.417469	0	0.670000	NM_021046		0	16	15	0	964	946	0		1			0	0	273	0	0	0.999920	0	0	0	0	0	0	16	964
ETS1	2113	broad.mit.edu	37	11	128426243	128426243	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr11:128426243A>G	ENST00000392668.4	-	3	241	c.157T>C	c.(157-159)Ttt>Ctt	p.F53L	ETS1_ENST00000525404.1_5'UTR	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	151	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		TCATCCCAAAAGGGGTAGCAA	0.448																																						ENST00000392668.4	0.130000	1.000000e-02	0.090000	2.000000e-02	0.050000	0.061901	0.050000	0.050000																										0				35						c.(157-159)Ttt>Ctt		v-ets avian erythroblastosis virus E26 oncogene homolog 1							155.0	134.0	140.0					11																	128426243		1566	3579	5145	SO:0001583	missense	2113	0	0					g.chr11:128426243A>G		CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954			3488	protein-coding gene	gene with protein product	"""Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1"", ""ets protein"""	164720		EWSR2		1522903	Standard	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	P14921	OTTHUMG00000165799	ENST00000392668.4:c.157T>C	chr11.hg19:g.128426243A>G	ENSP00000376436:p.Phe53Leu	0					ETS1_ENST00000525404.1_5'UTR	p.F53L	NM_001143820.1	NP_001137292.1	1	2	3	2.097972	P14921	ETS1_HUMAN		3	241	-	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)	A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Missense_Mutation	SNP	ENST00000392668.4	0	1	hg19	c.157T>C	CCDS44767.1	0	.	.	.	.	.	.	.	.	.	.	A	4.254	0.046125	0.08243	.	.	ENSG00000134954	ENST00000392668	T	0.08546	3.08	5.91	-0.172	0.13327	5.91	-0.172	0.13327	.	31.137600	0.02836	U	0.127298	T	0.04003	0.0112	.	.	.	0.18873	N	0.999987	B	0.02656	0.0	B	0.01281	0.0	T	0.36696	-0.9737	9	0.02654	T	1	.	9.9312	0.41523	0.4387:0.0:0.5613:0.0	.	53	Q6N087	.	L	53	ENSP00000376436:F53L	ENSP00000376436:F53L	F	-	1	0	0	ETS1	127931453	127931453	0.028000	0.19301	0.100000	0.21137	0.969000	0.65631	0.081000	0.14823	-0.052000	0.13311	0.533000	0.62120	TTT	0.671102		TCGA-HZ-A8P1-01A-11D-A377-08	0.448	ETS1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386267.2	0	0	1	2	2	2	2	0	0	0	0	94	94	94	93	1	1.880000	-2.671366	1	0.670000	NM_005238		0	4	4	0	235	233	0		1	0		0	0	94	0	0	0.889142	2.969230e-03	0	0	0	4	0	4	235
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	KRAS_deep			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000256078.4	0.980000	6.600000e-01	0.900000	7.300000e-01	0.810000	0.825240	0.810000	0.820000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes			Dom	yes		12	12p12.1	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog				"""L, E, M, O"""	L, E, M, O			pancreatic, colorectal, lung, thyroid, AML, others	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	2	121404	44	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	chr12.hg19:g.25398284C>T	ENSP00000256078:p.Gly12Asp	0	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D	p.G12D	NM_033360.2	NP_203524.1	0	0	0	2.014243	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)	2	98	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	1	1	hg19	c.35G>A	CCDS8703.1	0	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	0	KRAS	25289551	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	0.658562		TCGA-HZ-A8P1-01A-11D-A377-08	0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1	2	2	2	2	0	0	0	0	84	84	84	84	1	1.880000	-20.000000	1	0.670000	NM_033360		2713	73	71	5318	183	180	1	1	1	1	1	0	0	84	443	1	1.000000	9.993604e-01	1	16	140	15	407	73	183
PZP	5858	broad.mit.edu	37	12	9303328	9303328	+	Silent	SNP	C	C	T	rs371639831		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr12:9303328C>T	ENST00000261336.2	-	34	4324	c.4296G>A	c.(4294-4296)acG>acA	p.T1432T	PZP_ENST00000381997.2_Silent_p.T1218T	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	1432					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						AAAAACTTAGCGTCTGATTTG	0.393																																					Melanoma(125;1402 1695 4685 34487 38571)	ENST00000261336.2	1.000000	7.500000e-01	0.990000	8.200000e-01	0.900000	0.905102	0.900000	1.000000																										0				102						c.(4294-4296)acG>acA		pregnancy-zone protein							107.0	103.0	105.0					12																	9303328		2203	4300	6503	SO:0001819	synonymous_variant	5858	1	121410	35				g.chr12:9303328C>T	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.4296G>A	chr12.hg19:g.9303328C>T		0					PZP_ENST00000381997.2_Silent_p.T1218T	p.T1432T	NM_002864.2	NP_002855.2	0	0	0	2.036709	P20742	PZP_HUMAN		34	4324	-			A6ND27|Q15273|Q2NKL2|Q7M4N7	Silent	SNP	ENST00000261336.2	1	1	hg19	c.4296G>A	CCDS8600.1	1																																																																																								0.665518		TCGA-HZ-A8P1-01A-11D-A377-08	0.393	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	1	0	1	2	2	2	2	0	0	0	0	82	82	82	82	1	1.880000	-20.000000	1	0.670000	NM_002864		0	87	85	0	195	195	1		1			0	0	82	0	0	1.000000	0	0	0	0	0	0	87	195
MYF6	4618	broad.mit.edu	37	12	81101627	81101627	+	Silent	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr12:81101627C>T	ENST00000228641.3	+	1	351	c.129C>T	c.(127-129)ccC>ccT	p.P43P		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	43					muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						CCTTGTCCCCCTGCCAGGACC	0.597																																						ENST00000228641.3	1.000000	7.800000e-01	1.000000	8.500000e-01	0.930000	0.933651	0.930000	1.000000																										0				26						c.(127-129)ccC>ccT		myogenic factor 6 (herculin)							69.0	72.0	71.0					12																	81101627		2203	4300	6503	SO:0001819	synonymous_variant	4618	0	0					g.chr12:81101627C>T		CCDS9019.1	12q21	2013-05-21				ENSG00000111046		"""Basic helix-loop-helix proteins"""	7566	protein-coding gene	gene with protein product	"""muscle-specific regulatory factor 4"""	159991				8978788	Standard	NM_002469		Approved	MRF4, bHLHc4	uc001szf.2	P23409		ENST00000228641.3:c.129C>T	chr12.hg19:g.81101627C>T		0						p.P43P	NM_002469.2	NP_002460.1	0	0	0	2.014243	P23409	MYF6_HUMAN		1	351	+			B2R898|Q53X80|Q6FHI9	Silent	SNP	ENST00000228641.3	1	1	hg19	c.129C>T	CCDS9019.1	1																																																																																								0.658562		TCGA-HZ-A8P1-01A-11D-A377-08	0.597	MYF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407756.1	1	0	1	2	2	2	2	0	0	0	0	103	103	103	103	1	1.880000	-9.294792	1	0.670000	NM_002469		0	91	90	0	187	187	1		1			0	0	103	0	0	1.000000	0	0	0	0	0	0	91	187
UGGT2	55757	broad.mit.edu	37	13	96675949	96675949	+	Silent	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr13:96675949G>A	ENST00000376747.3	-	3	376	c.306C>T	c.(304-306)caC>caT	p.H102H	UGGT2_ENST00000376714.3_Silent_p.H102H|UGGT2_ENST00000376712.4_Silent_p.H102H|UGGT2_ENST00000397618.3_Silent_p.H102H	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	102					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						AAAGGTTGATGTGTAAATTGT	0.328																																						ENST00000376747.3	1.000000	8.100000e-01	1.000000	8.700000e-01	0.930000	0.937670	0.930000	1.000000																										0				60						c.(304-306)caC>caT		UDP-glucose glycoprotein glucosyltransferase 2							100.0	101.0	101.0					13																	96675949		2203	4300	6503	SO:0001819	synonymous_variant	55757	0	0					g.chr13:96675949G>A	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.306C>T	chr13.hg19:g.96675949G>A		0					UGGT2_ENST00000397618.3_Silent_p.H102H|UGGT2_ENST00000376714.3_Silent_p.H102H|UGGT2_ENST00000376712.4_Silent_p.H102H	p.H102H	NM_020121.3	NP_064506.3	0	0	0	2.064236	Q9NYU1	UGGG2_HUMAN		3	376	-			A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Silent	SNP	ENST00000376747.3	1	1	hg19	c.306C>T	CCDS9480.1	1																																																																																								0.667774		TCGA-HZ-A8P1-01A-11D-A377-08	0.328	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	1	0	1	2	2	2	2	0	0	0	0	174	174	174	173	1	1.880000	-20.000000	1	0.670000	NM_020121		0	136	133	0	291	290	1		1	1		0	0	174	0	0	1.000000	8.334380e-01	0	3	0	6	0	136	291
IPO5	3843	broad.mit.edu	37	13	98666315	98666315	+	Silent	SNP	G	G	A	rs182747248	byFrequency	TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr13:98666315G>A	ENST00000490680.1	+	19	2237	c.2172G>A	c.(2170-2172)gcG>gcA	p.A724A	IPO5_ENST00000539640.1_Silent_p.A599A|IPO5_ENST00000261574.5_Silent_p.A742A			O00410	IPO5_HUMAN	importin 5	724					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)	p.A742A(1)		breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TGGCAGCAGCGGAATCCATGC	0.428													G|||	2	0.000399361	0.0	0.0014	5008	,	,		16157	0.0		0.001	False		,,,				2504	0.0					ENST00000490680.1	0.100000	1.000000e-02	0.080000	3.000000e-02	0.040000	0.057018	0.040000	0.050000																										1	Substitution - coding silent(1)	p.A742A(1)	lung(1)	27						c.(2170-2172)gcG>gcA		importin 5							119.0	121.0	120.0					13																	98666315		2203	4300	6503	SO:0001819	synonymous_variant	3843	11	121412	44				g.chr13:98666315G>A	U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"""Importins"""	6402	protein-coding gene	gene with protein product		602008	"""karyopherin (importin) beta 3"", ""RAN binding protein 5"""	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.2172G>A	chr13.hg19:g.98666315G>A		0					IPO5_ENST00000539640.1_Silent_p.A599A|IPO5_ENST00000261574.5_Silent_p.A742A	p.A724A			0	0	0	2.064236	O00410	IPO5_HUMAN		19	2237	+			B4DZA0|O15257|Q5T578|Q86XC7	Silent	SNP	ENST00000490680.1	0	1	hg19	c.2172G>A		0	2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	10.67	1.415607	0.25552	.	.	ENSG00000065150	ENST00000469360	.	.	.	5.75	-3.63	0.04529	5.75	-3.63	0.04529	.	.	.	.	.	T	0.48537	0.1505	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45293	-0.9271	4	.	.	.	-3.754	6.4092	0.21682	0.4783:0.338:0.1837:0.0	.	.	.	.	Q	726	.	.	R	+	2	0	0	IPO5	97464316	97464316	0.954000	0.32549	0.947000	0.38551	0.989000	0.77384	0.135000	0.15952	-0.437000	0.07243	-0.294000	0.09567	CGG	0.667774		TCGA-HZ-A8P1-01A-11D-A377-08	0.428	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	0	0	1	2	2	2	2	0	0	0	0	161	161	161	160	1	1.880000	-1.992736	0	0.670000	NM_002271		0	7	8	0	407	401	0		1	1		0	0	161	0	0	0.979950	6.512885e-01	0	2	0	122	0	7	407
MCF2L	23263	broad.mit.edu	37	13	113742040	113742040	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr13:113742040C>T	ENST00000375608.3	+	24	2763	c.2705C>T	c.(2704-2706)aCg>aTg	p.T902M	MCF2L_ENST00000375604.2_Missense_Mutation_p.T929M|MCF2L_ENST00000423482.2_Missense_Mutation_p.T870M|MCF2L_ENST00000421756.1_Missense_Mutation_p.T876M|MCF2L_ENST00000535094.2_Missense_Mutation_p.T872M|MCF2L_ENST00000375601.3_Missense_Mutation_p.T876M|MCF2L_ENST00000397030.1_Missense_Mutation_p.T905M|MCF2L_ENST00000375597.4_Missense_Mutation_p.T870M|MCF2L_ENST00000442652.2_Missense_Mutation_p.T902M|MCF2L_ENST00000434480.2_Missense_Mutation_p.T878M			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	902	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GTTGGCATTACGGAGAACGTG	0.577																																						ENST00000375608.3	1.000000	5.800000e-01	0.910000	6.800000e-01	0.790000	0.801386	0.790000	1.000000																										0				8						c.(2704-2706)aCg>aTg		MCF.2 cell line derived transforming sequence-like							158.0	102.0	121.0					13																	113742040		2203	4299	6502	SO:0001583	missense	23263	1	121406	36				g.chr13:113742040C>T	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.2705C>T	chr13.hg19:g.113742040C>T	ENSP00000364758:p.Thr902Met	0					MCF2L_ENST00000375597.4_Missense_Mutation_p.T870M|MCF2L_ENST00000375601.3_Missense_Mutation_p.T876M|MCF2L_ENST00000397030.1_Missense_Mutation_p.T905M|MCF2L_ENST00000434480.2_Missense_Mutation_p.T878M|MCF2L_ENST00000535094.2_Missense_Mutation_p.T872M|MCF2L_ENST00000375604.2_Missense_Mutation_p.T929M|MCF2L_ENST00000442652.2_Missense_Mutation_p.T902M|MCF2L_ENST00000421756.1_Missense_Mutation_p.T876M|MCF2L_ENST00000423482.2_Missense_Mutation_p.T870M	p.T902M			0	0	0	2.064236	O15068	MCF2L_HUMAN		24	2763	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)	A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	ENST00000375608.3	1	1	hg19	c.2705C>T		0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.46|14.46	2.540927|2.540927	0.45280|0.45280	.|.	.|.	ENSG00000126217|ENSG00000126217	ENST00000413354;ENST00000261963|ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000375597;ENST00000440749	.|T;T;T;T;T;T;T;T;T;T	.|0.76968	.|2.12;2.12;2.12;2.12;2.12;2.12;2.12;2.12;2.12;-1.06	5.08|5.08	4.24|4.24	0.50183|0.50183	5.08|5.08	4.24|4.24	0.50183|0.50183	.|Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91294|0.91294	0.7255|0.7255	H|H	0.95982|0.95982	3.75|3.75	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.97110	.|1.0;1.0;1.0;1.0;1.0	D|D	0.93344|0.93344	0.6712|0.6712	5|10	.|0.87932	.|D	.|0	.|.	13.4666|13.4666	0.61258|0.61258	0.0:0.9243:0.0:0.0757|0.0:0.9243:0.0:0.0757	.|.	.|870;872;929;870;902	.|E9PDN8;O15068-9;G5E9A1;O15068-4;O15068	.|.;.;.;.;MCF2L_HUMAN	W|M	102;43|902;902;929;905;872;876;876;878;870;870;713	.|ENSP00000364758:T902M;ENSP00000401422:T902M;ENSP00000364754:T929M;ENSP00000380225:T905M;ENSP00000440374:T872M;ENSP00000397285:T876M;ENSP00000364751:T876M;ENSP00000407722:T878M;ENSP00000405639:T870M;ENSP00000364747:T870M	.|ENSP00000364747:T870M	R|T	+|+	1|2	2|0	2|0	MCF2L|MCF2L	112790041|112790041	112790041|112790041	1.000000|1.000000	0.71417|0.71417	0.440000|0.440000	0.26846|0.26846	0.010000|0.010000	0.07245|0.07245	7.611000|7.611000	0.82962|0.82962	1.132000|1.132000	0.42129|0.42129	-0.136000|-0.136000	0.14681|0.14681	CGG|ACG	0.667774		TCGA-HZ-A8P1-01A-11D-A377-08	0.577	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4	1	0	1	2	2	2	2	0	0	0	0	32	32	32	32	1	1.880000	-20.000000	1	0.670000			0	36	35	0	98	98	1		1	1		0	0	32	0	0	1.000000	7.920884e-01	0	5	0	5	0	36	98
SAMD4A	23034	broad.mit.edu	37	14	55226887	55226887	+	Silent	SNP	C	C	T	rs201991552	byFrequency	TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr14:55226887C>T	ENST00000554335.1	+	7	1848	c.1185C>T	c.(1183-1185)atC>atT	p.I395I	SAMD4A_ENST00000392067.3_Silent_p.I395I|SAMD4A_ENST00000251091.5_Silent_p.I307I|SAMD4A_ENST00000555192.1_5'UTR|SAMD4A_ENST00000357634.3_Silent_p.I394I			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	395					negative regulation of translation (GO:0017148)|positive regulation of translation (GO:0045727)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|translation repressor activity (GO:0030371)	p.I394I(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						AGGACATCATCGAGGGGGGCA	0.632													C|||	7	0.00139776	0.0	0.0	5008	,	,		15963	0.0069		0.0	False		,,,				2504	0.0					ENST00000554335.1	0.050000	0	0.040000	0	0.020000	0.027872	0.020000	0.020000																										1	Substitution - coding silent(1)	p.I394I(1)	large_intestine(1)	29						c.(1183-1185)atC>atT		sterile alpha motif domain containing 4A							100.0	112.0	108.0					14																	55226887		2187	4267	6454	SO:0001819	synonymous_variant	23034	70	121152	54				g.chr14:55226887C>T	AB028976	CCDS32084.1, CCDS55917.1, CCDS55918.1, CCDS32084.2, CCDS55917.2	14q22.2	2013-01-10	2006-01-27	2006-01-27	ENSG00000020577	ENSG00000020577		"""Sterile alpha motif (SAM) domain containing"""	23023	protein-coding gene	gene with protein product	"""smaug homolog (Drosophila)"""	610747	"""sterile alpha motif domain containing 4"""	SAMD4		16221671	Standard	NM_001161577		Approved	KIAA1053, DKFZP434H0350, Smaug, SMG, SMGA, hSmaug1	uc001xbb.4	Q9UPU9	OTTHUMG00000170999	ENST00000554335.1:c.1185C>T	chr14.hg19:g.55226887C>T		0					SAMD4A_ENST00000392067.3_Silent_p.I395I|SAMD4A_ENST00000357634.3_Silent_p.I394I|SAMD4A_ENST00000251091.5_Silent_p.I307I|SAMD4A_ENST00000555192.1_5'UTR	p.I395I			0	0	0	2.089217	Q9UPU9	SMAG1_HUMAN		7	1848	+			A8MPZ5|Q0VA96|Q6PEW4	Silent	SNP	ENST00000554335.1	0	1	hg19	c.1185C>T	CCDS32084.2	0																																																																																								0.670000		TCGA-HZ-A8P1-01A-11D-A377-08	0.632	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411186.1	0	0	1	2	2	2	2	0	0	0	0	179	179	179	179	1	1.880000	-2.458304	0	0.670000	NM_015589		0	7	7	0	806	796	0		1	0		0	0	179	0	0	0.979761	1.056405e-03	0	0	0	5	0	7	806
GABRG3	2567	broad.mit.edu	37	15	27777959	27777959	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr15:27777959C>T	ENST00000333743.6	+	10	1590	c.1336C>T	c.(1336-1338)Cgg>Tgg	p.R446W	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	446					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CTCGTACTCCCGGGTCTTTTT	0.473																																					NSCLC(114;800 1656 7410 37729 45293)	ENST00000333743.6	0.900000	5.000000e-01	0.790000	5.900000e-01	0.680000	0.694728	0.680000	0.680000																										0				42						c.(1336-1338)Cgg>Tgg		gamma-aminobutyric acid (GABA) A receptor, gamma 3	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)						76.0	78.0	77.0					15																	27777959		1956	4136	6092	SO:0001583	missense	2567	0	0					g.chr15:27777959C>T		CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4088	protein-coding gene	gene with protein product	"""GABA(G) receptor, gamma 3"""	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.1336C>T	chr15.hg19:g.27777959C>T	ENSP00000331912:p.Arg446Trp	0					RP11-100M12.3_ENST00000556642.1_RNA	p.R446W	NM_033223.4	NP_150092.2	1	2	3	2.100062	Q99928	GBRG3_HUMAN		10	1590	+		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)	G3V594|Q9HD46|Q9NYT2	Missense_Mutation	SNP	ENST00000333743.6	1	1	hg19	c.1336C>T	CCDS45195.1	0	.	.	.	.	.	.	.	.	.	.	C	19.57	3.852493	0.71719	.	.	ENSG00000182256	ENST00000333743	D	0.86366	-2.11	5.75	2.63	0.31362	5.75	2.63	0.31362	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.061993	0.64402	D	0.000007	D	0.93327	0.7873	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92650	0.6132	10	0.87932	D	0	.	9.021	0.36200	0.471:0.4096:0.1194:0.0	.	446	Q99928	GBRG3_HUMAN	W	446	ENSP00000331912:R446W	ENSP00000331912:R446W	R	+	1	2	2	GABRG3	25451554	25451554	0.997000	0.39634	0.480000	0.27341	0.902000	0.53008	3.752000	0.55172	0.748000	0.32831	0.650000	0.86243	CGG	0.671102		TCGA-HZ-A8P1-01A-11D-A377-08	0.473	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2	1	0	1	2	2	2	2	0	0	0	0	58	58	58	57	1	1.880000	-3.362228	1	0.670000			0	36	35	0	121	121	1		1			0	0	58	0	0	1.000000	0	0	0	0	0	0	36	121
ZSCAN2	54993	broad.mit.edu	37	15	85147523	85147523	+	Missense_Mutation	SNP	C	C	T	rs142869560		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr15:85147523C>T	ENST00000448803.2	+	2	657	c.365C>T	c.(364-366)gCg>gTg	p.A122V	ZSCAN2_ENST00000538076.1_Missense_Mutation_p.A122V|ZSCAN2_ENST00000546148.1_Missense_Mutation_p.A122V|ZSCAN2_ENST00000334141.3_Missense_Mutation_p.A122V|ZSCAN2_ENST00000327179.6_Missense_Mutation_p.A122V|ZSCAN2_ENST00000358472.3_Intron|ZSCAN2_ENST00000541040.1_Missense_Mutation_p.A122V|ZSCAN2_ENST00000379358.3_Missense_Mutation_p.A122V|ZSCAN2_ENST00000485222.2_Missense_Mutation_p.A122V	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	122	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		GAGGAGGCAGCGGCCCTGGTG	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		22777	0.001		0.0	False		,,,				2504	0.0					ENST00000448803.2	1.000000	6.500000e-01	0.950000	7.400000e-01	0.840000	0.849808	0.840000	1.000000																										0				19						c.(364-366)gCg>gTg		zinc finger and SCAN domain containing 2		C	VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	63.0	56.0	58.0		365,365,365	-1.3	0.1	15	dbSNP_134	58	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense	ZSCAN2	NM_001007072.1,NM_017894.5,NM_181877.3	64,64,64	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	122/147,122/151,122/615	85147523	1,13003	2203	4299	6502	SO:0001583	missense	54993	3	121410	35				g.chr15:85147523C>T	BC041620	CCDS10329.2, CCDS32315.1, CCDS32316.1	15q25.2	2013-01-08	2004-11-01	2004-11-02	ENSG00000176371	ENSG00000176371		"""-"", ""Zinc fingers, C2H2-type"""	20994	protein-coding gene	gene with protein product			"""zinc finger protein 29"""	ZFP29		1937051	Standard	NM_017894		Approved	FLJ20595, ZNF854	uc002bkr.3	Q7Z7L9	OTTHUMG00000074027	ENST00000448803.2:c.365C>T	chr15.hg19:g.85147523C>T	ENSP00000410198:p.Ala122Val	0					ZSCAN2_ENST00000358472.3_Intron|ZSCAN2_ENST00000327179.6_Missense_Mutation_p.A122V|ZSCAN2_ENST00000379358.3_Missense_Mutation_p.A122V|ZSCAN2_ENST00000485222.2_Missense_Mutation_p.A122V|ZSCAN2_ENST00000541040.1_Missense_Mutation_p.A122V|ZSCAN2_ENST00000334141.3_Missense_Mutation_p.A122V|ZSCAN2_ENST00000546148.1_Missense_Mutation_p.A122V|ZSCAN2_ENST00000538076.1_Missense_Mutation_p.A122V	p.A122V	NM_181877.3	NP_870992.2	1	2	3	2.100062	Q7Z7L9	ZSCA2_HUMAN		2	657	+			A6NG83|B2RMQ9|Q6ZQY9|Q9NWU4	Missense_Mutation	SNP	ENST00000448803.2	1	1	hg19	c.365C>T	CCDS10329.2	0	.	.	.	.	.	.	.	.	.	.	C	2.640	-0.284280	0.05605	0.0	1.16E-4	ENSG00000176371	ENST00000448803;ENST00000546148;ENST00000334141;ENST00000379358;ENST00000327179;ENST00000541040;ENST00000538076;ENST00000485222;ENST00000379353	T;T;T;T;T;T;T;T	0.03386	3.95;3.95;3.95;3.95;3.95;3.95;3.95;3.95	5.63	-1.28	0.09318	5.63	-1.28	0.09318	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.282320	0.24927	N	0.034484	T	0.00784	0.0026	N	0.00301	-1.68	0.09310	N	1	B;B;B;B;B;B;B	0.11235	0.004;0.0;0.002;0.0;0.0;0.001;0.003	B;B;B;B;B;B;B	0.06405	0.001;0.001;0.001;0.001;0.001;0.002;0.001	T	0.44019	-0.9355	10	0.13853	T	0.58	-9.9035	3.0178	0.06065	0.2893:0.2494:0.0:0.4613	.	122;122;122;122;122;122;122	F5H3F3;F5GY18;F5GZ04;A8K5A9;Q7Z7L9;Q7Z7L9-4;Q7Z7L9-3	.;.;.;.;ZSCA2_HUMAN;.;.	V	122;122;122;122;122;122;122;122;103	ENSP00000410198:A122V;ENSP00000445451:A122V;ENSP00000333895:A122V;ENSP00000368663:A122V;ENSP00000325123:A122V;ENSP00000441342:A122V;ENSP00000439132:A122V;ENSP00000440004:A122V	ENSP00000325123:A122V	A	+	2	0	0	ZSCAN2	82948527	82948527	0.992000	0.36948	0.081000	0.20488	0.858000	0.48976	0.340000	0.19892	-0.444000	0.07170	-0.290000	0.09829	GCG	0.671102		TCGA-HZ-A8P1-01A-11D-A377-08	0.567	ZSCAN2-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396956.1	1	0	1	2	2	2	2	0	0	0	0	48	48	48	48	1	1.880000	-5.727149	1	0.670000	NM_017894		0	51	51	0	129	129	1		1	0		0	0	48	0	0	1.000000	8.274785e-02	0	1	0	1	0	51	129
ANKS3	124401	broad.mit.edu	37	16	4752111	4752111	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr16:4752111C>T	ENST00000304283.4	-	9	1295	c.1001G>A	c.(1000-1002)aGc>aAc	p.S334N	ANKS3_ENST00000446014.2_Missense_Mutation_p.S205N|ANKS3_ENST00000450067.2_Missense_Mutation_p.S128N|ANKS3_ENST00000585773.1_Missense_Mutation_p.S261N	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	334	Ser-rich.									endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						ACCCCGActgctgctgctgct	0.662																																						ENST00000304283.4	0.220000	2.000000e-02	0.150000	5.000000e-02	0.090000	0.107345	0.090000	0.090000																										0				19						c.(1000-1002)aGc>aAc		ankyrin repeat and sterile alpha motif domain containing 3							22.0	23.0	23.0					16																	4752111		2197	4299	6496	SO:0001583	missense	124401	0	0					g.chr16:4752111C>T	AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.1001G>A	chr16.hg19:g.4752111C>T	ENSP00000304586:p.Ser334Asn	0					ANKS3_ENST00000585773.1_Missense_Mutation_p.S261N|ANKS3_ENST00000450067.2_Missense_Mutation_p.S128N|ANKS3_ENST00000446014.2_Missense_Mutation_p.S205N	p.S334N	NM_133450.3	NP_597707.1	1	2	3	2.098963	Q6ZW76	ANKS3_HUMAN		9	1295	-			B4DWU4|D3DUE2|Q8TF25	Missense_Mutation	SNP	ENST00000304283.4	0	1	hg19	c.1001G>A	CCDS10520.1	0	.	.	.	.	.	.	.	.	.	.	C	19.62	3.860829	0.71834	.	.	ENSG00000168096	ENST00000304283;ENST00000446014;ENST00000450067	T;T;T	0.55588	0.93;2.65;0.51	5.53	5.53	0.82687	5.53	5.53	0.82687	.	0.199023	0.42420	D	0.000704	T	0.70263	0.3204	M	0.68952	2.095	0.42380	D	0.992485	D;B	0.76494	0.999;0.32	D;B	0.64877	0.93;0.249	T	0.69533	-0.5120	10	0.46703	T	0.11	-11.6641	18.8095	0.92053	0.0:1.0:0.0:0.0	.	128;334	Q6ZWA7;Q6ZW76	.;ANKS3_HUMAN	N	334;205;128	ENSP00000304586:S334N;ENSP00000406796:S205N;ENSP00000388270:S128N	ENSP00000304586:S334N	S	-	2	0	0	ANKS3	4692112	4692112	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	6.139000	0.71728	2.769000	0.95229	0.655000	0.94253	AGC	0.671102		TCGA-HZ-A8P1-01A-11D-A377-08	0.662	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251642.3	0	0	0	2	2	2	2	0	0	0	0	51	51	51	50	1	1.880000	-6.806956	1	0.670000	NM_133450		0	4	0	0	133	131	0		0	0		0	0	51	0	0	0.880666	1.797504e-01	0	0	0	21	0	4	133
BBS2	583	broad.mit.edu	37	16	56535366	56535366	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr16:56535366C>T	ENST00000245157.5	-	10	1544	c.1124G>A	c.(1123-1125)gGc>gAc	p.G375D	BBS2_ENST00000561951.1_5'Flank|BBS2_ENST00000568104.1_Missense_Mutation_p.G375D	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	375					adult behavior (GO:0030534)|artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|cilium morphogenesis (GO:0060271)|fat cell differentiation (GO:0045444)|Golgi to plasma membrane protein transport (GO:0043001)|hippocampus development (GO:0021766)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|positive regulation of multicellular organism growth (GO:0040018)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sperm axoneme assembly (GO:0007288)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						TGGGATTATGCCCCGATGCCC	0.498									Bardet-Biedl syndrome																													ENST00000245157.5	0.080000	0	0.050000	1.000000e-02	0.020000	0.044381	0.020000	0.030000																										0				26						c.(1123-1125)gGc>gAc		Bardet-Biedl syndrome 2							199.0	174.0	182.0					16																	56535366		2198	4300	6498	SO:0001583	missense	583	0	0		Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	g.chr16:56535366C>T	AF342736	CCDS32451.1	16q21	2013-01-08				ENSG00000125124			967	protein-coding gene	gene with protein product		606151		BBS		11285252	Standard	NM_031885		Approved		uc002ejd.2	Q9BXC9		ENST00000245157.5:c.1124G>A	chr16.hg19:g.56535366C>T	ENSP00000245157:p.Gly375Asp	0					BBS2_ENST00000561951.1_5'Flank|BBS2_ENST00000568104.1_Missense_Mutation_p.G375D	p.G375D	NM_031885.3	NP_114091	1	2	3	2.114270	Q9BXC9	BBS2_HUMAN		10	1544	-			Q96CM0|Q96SN9	Missense_Mutation	SNP	ENST00000245157.5	0	1	hg19	c.1124G>A	CCDS32451.1	0	.	.	.	.	.	.	.	.	.	.	C	19.43	3.826572	0.71143	.	.	ENSG00000125124	ENST00000245157	D	0.91124	-2.79	5.38	4.43	0.53597	5.38	4.43	0.53597	.	0.000000	0.85682	D	0.000000	D	0.88844	0.6547	L	0.55017	1.72	0.80722	D	1	P	0.34997	0.479	B	0.37480	0.251	D	0.88279	0.2935	10	0.59425	D	0.04	-7.8682	13.8574	0.63537	0.0:0.9273:0.0:0.0727	.	375	Q9BXC9	BBS2_HUMAN	D	375	ENSP00000245157:G375D	ENSP00000245157:G375D	G	-	2	0	0	BBS2	55092867	55092867	1.000000	0.71417	0.627000	0.29227	0.991000	0.79684	5.495000	0.66912	1.285000	0.44548	0.650000	0.86243	GGC	0.672196		TCGA-HZ-A8P1-01A-11D-A377-08	0.498	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434386.2	0	0	1	2	2	2	2	0	0	0	0	149	149	149	148	1	1.880000	-2.214990	0	0.670000	NM_031885		0	5	5	0	499	492	0		1	0		0	0	149	0	0	0.935507	1.131596e-01	0	0	0	47	0	5	499
DEF8	54849	broad.mit.edu	37	16	90027351	90027351	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr16:90027351G>T	ENST00000268676.7	+	7	799	c.710G>T	c.(709-711)cGc>cTc	p.R237L	DEF8_ENST00000563795.1_Missense_Mutation_p.R176L|DEF8_ENST00000569453.1_Missense_Mutation_p.R176L|DEF8_ENST00000563848.1_3'UTR|DEF8_ENST00000570182.1_Missense_Mutation_p.R166L|DEF8_ENST00000567874.1_Missense_Mutation_p.R116L|DEF8_ENST00000563594.1_Missense_Mutation_p.R176L	NM_207514.2	NP_997397.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	237					intracellular signal transduction (GO:0035556)		zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		TGTTATTACCGCTGTCACAGT	0.582																																						ENST00000268676.7	1.000000	7.600000e-01	0.950000	8.200000e-01	0.880000	0.888282	0.880000	0.890000																										0				12						c.(709-711)cGc>cTc		differentially expressed in FDCP 8 homolog (mouse)							159.0	138.0	145.0					16																	90027351		2198	4300	6498	SO:0001583	missense	54849	0	0					g.chr16:90027351G>T	AK131370	CCDS10989.1, CCDS45555.1, CCDS58493.1, CCDS58494.1, CCDS58495.1, CCDS58496.1	16q24.3	2011-01-31			ENSG00000140995	ENSG00000140995			25969	protein-coding gene	gene with protein product						12477932	Standard	NM_207514		Approved	FLJ20186	uc002fpn.2	Q6ZN54	OTTHUMG00000138989	ENST00000268676.7:c.710G>T	chr16.hg19:g.90027351G>T	ENSP00000268676:p.Arg237Leu	0					DEF8_ENST00000563795.1_Missense_Mutation_p.R176L|DEF8_ENST00000569453.1_Missense_Mutation_p.R176L|DEF8_ENST00000570182.1_Missense_Mutation_p.R166L|DEF8_ENST00000567874.1_Missense_Mutation_p.R116L|DEF8_ENST00000563594.1_Missense_Mutation_p.R176L|DEF8_ENST00000563848.1_3'UTR	p.R237L	NM_207514.2	NP_997397.1	1	2	3	2.114270	Q6ZN54	DEFI8_HUMAN		7	799	+		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)	B3KT65|B4DK62|B4E0S9|B7Z3H6|H3BUG7|Q8N8N3|Q9NXL0	Missense_Mutation	SNP	ENST00000268676.7	1	1	hg19	c.710G>T	CCDS10989.1	1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.126553	0.77549	.	.	ENSG00000140995	ENST00000268676	D	0.83419	-1.72	3.82	3.82	0.43975	3.82	3.82	0.43975	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.135757	0.49916	D	0.000129	T	0.77538	0.4145	N	0.10733	0.035	0.80722	D	1	D;D;D	0.56746	0.977;0.977;0.966	P;P;P	0.56343	0.738;0.796;0.796	T	0.77247	-0.2658	10	0.25106	T	0.35	-4.7809	15.8391	0.78831	0.0:0.0:1.0:0.0	.	176;166;237	Q6ZN54-5;Q6ZN54-3;Q6ZN54	.;.;DEFI8_HUMAN	L	237	ENSP00000268676:R237L	ENSP00000268676:R237L	R	+	2	0	0	DEF8	88554852	88554852	1.000000	0.71417	1.000000	0.80357	0.570000	0.35934	6.982000	0.76173	2.119000	0.64992	0.462000	0.41574	CGC	0.672196		TCGA-HZ-A8P1-01A-11D-A377-08	0.582	DEF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000272878.1	0	0	1	2	2	2	2	0	0	0	0	190	190	190	190	1	1.880000	-20.000000	1	0.670000	NM_207514		0	159	157	0	380	373	1		1	1		0	0	190	0	0	1.000000	9.978754e-01	0	8	0	17	0	159	380
PRPF8	10594	broad.mit.edu	37	17	1577065	1577065	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr17:1577065G>A	ENST00000572621.1	-	21	3686	c.3421C>T	c.(3421-3423)Cgc>Tgc	p.R1141C	PRPF8_ENST00000304992.6_Missense_Mutation_p.R1141C			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1141	Reverse transcriptase homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TTCATGAGGCGCATGCGGGCA	0.517																																						ENST00000572621.1	1.000000	0	0.060000	1.000000e-02	0.030000	0.069450	0.030000	0.040000																										0				77						c.(3421-3423)Cgc>Tgc		pre-mRNA processing factor 8							156.0	145.0	149.0					17																	1577065		2203	4300	6503	SO:0001583	missense	10594	0	0					g.chr17:1577065G>A	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.3421C>T	chr17.hg19:g.1577065G>A	ENSP00000460348:p.Arg1141Cys	0					PRPF8_ENST00000304992.6_Missense_Mutation_p.R1141C	p.R1141C			1	2	3	2.138423	Q6P2Q9	PRP8_HUMAN		21	3686	-			O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	0	1	hg19	c.3421C>T	CCDS11010.1	0	.	.	.	.	.	.	.	.	.	.	G	20.5	3.993235	0.74703	.	.	ENSG00000174231	ENST00000304992	D	0.84800	-1.9	5.45	5.45	0.79879	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.94896	0.8350	H	0.95004	3.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95660	0.8714	10	0.87932	D	0	-7.3509	19.4672	0.94948	0.0:0.0:1.0:0.0	.	1141	Q6P2Q9	PRP8_HUMAN	C	1141	ENSP00000304350:R1141C	ENSP00000304350:R1141C	R	-	1	0	0	PRPF8	1523815	1523815	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.675000	0.61619	2.833000	0.97629	0.585000	0.79938	CGC	0.674364		TCGA-HZ-A8P1-01A-11D-A377-08	0.517	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2	0	0	1	2	13	4	2	1	1	1	1	125	125	125	125	1	1.880000	-1.999209	0	0.670000			0	5	5	0	422	419	0		0	0		1	0	125	0	0	0.044455	3.191644e-02	0	0	0	75	0	5	422
MYH2	4620	broad.mit.edu	37	17	10433385	10433385	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr17:10433385C>T	ENST00000245503.5	-	23	3088	c.2704G>A	c.(2704-2706)Gaa>Aaa	p.E902K	RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E902K|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	902					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCCAAGCCTTCGGCTTCCTTA	0.393																																						ENST00000245503.5	1.000000	0	0.070000	2.000000e-02	0.030000	0.073329	0.030000	0.040000																										0				176						c.(2704-2706)Gaa>Aaa		myosin, heavy chain 2, skeletal muscle, adult							134.0	130.0	131.0					17																	10433385		2203	4300	6503	SO:0001583	missense	4620	3	121412	38				g.chr17:10433385C>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.2704G>A	chr17.hg19:g.10433385C>T	ENSP00000245503:p.Glu902Lys	0					RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E902K|CTC-297N7.11_ENST00000587182.2_RNA	p.E902K	NM_017534.5	NP_060004.3	1	2	3	2.138423	Q9UKX2	MYH2_HUMAN		23	3088	-			A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	0	1	hg19	c.2704G>A	CCDS11156.1	0	.	.	.	.	.	.	.	.	.	.	C	19.17	3.774792	0.70107	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.83755	-1.76;-1.76	5.15	5.15	0.70609	5.15	5.15	0.70609	.	0.176467	0.26605	U	0.023460	D	0.89269	0.6667	H	0.95004	3.61	0.58432	D	0.999992	P	0.35411	0.5	B	0.37422	0.249	D	0.91254	0.5031	10	0.72032	D	0.01	.	18.795	0.91990	0.0:1.0:0.0:0.0	.	902	Q9UKX2	MYH2_HUMAN	K	902	ENSP00000245503:E902K;ENSP00000380367:E902K	ENSP00000245503:E902K	E	-	1	0	0	MYH2	10374110	10374110	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	7.361000	0.79497	2.661000	0.90470	0.591000	0.81541	GAA	0.674364		TCGA-HZ-A8P1-01A-11D-A377-08	0.393	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	0	0	1	2	2	2	2	0	0	0	0	250	250	250	249	1	1.880000	-2.565200	1	0.670000	NM_017534		0	6	6	0	452	448	0		1			0	0	250	0	0	0.964240	0	0	0	0	0	0	6	452
CDC37	11140	broad.mit.edu	37	19	10506629	10506629	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr19:10506629G>A	ENST00000222005.2	-	2	406	c.353C>T	c.(352-354)aCg>aTg	p.T118M		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	118					protein targeting (GO:0006605)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		TTTGCTGAGCGTGTCCACGTT	0.662																																						ENST00000222005.2	0.110000	2.000000e-02	0.090000	3.000000e-02	0.050000	0.065378	0.050000	0.060000																										0				16						c.(352-354)aCg>aTg		cell division cycle 37							132.0	122.0	125.0					19																	10506629		2203	4300	6503	SO:0001583	missense	11140	1	121412	30				g.chr19:10506629G>A	U63131	CCDS12237.1	19p13.2	2013-01-17	2013-01-17		ENSG00000105401	ENSG00000105401			1735	protein-coding gene	gene with protein product	"""CDC37 cell division cycle 37 homolog"", ""Hsp90 co-chaperone Cdc37"", ""CDC37 (cell division cycle 37, S. cerevisiae, homolog)"""	605065	"""CDC37 (cell division cycle 37, S. cerevisiae, homolog)"", ""CDC37 cell division cycle 37 homolog (S. cerevisiae)"", ""cell division cycle 37 homolog (S. cerevisiae)"""			8703009, 8666233	Standard	NM_007065		Approved	P50CDC37	uc002mof.1	Q16543		ENST00000222005.2:c.353C>T	chr19.hg19:g.10506629G>A	ENSP00000222005:p.Thr118Met	0						p.T118M	NM_007065.3	NP_008996.1	0	0	0	2.080911	Q16543	CDC37_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	2	406	-			Q53YA2	Missense_Mutation	SNP	ENST00000222005.2	0	1	hg19	c.353C>T	CCDS12237.1	0	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355303	0.61293	.	.	ENSG00000105401	ENST00000222005	T	0.50813	0.73	4.05	4.05	0.47172	4.05	4.05	0.47172	Cdc37, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.56016	0.1957	M	0.91196	3.185	0.80722	D	1	P;P	0.38827	0.649;0.649	B;B	0.35114	0.196;0.196	T	0.70073	-0.4972	10	0.87932	D	0	.	14.0814	0.64925	0.0:0.0:1.0:0.0	.	118;118	Q6FG59;Q16543	.;CDC37_HUMAN	M	118	ENSP00000222005:T118M	ENSP00000222005:T118M	T	-	2	0	0	CDC37	10367629	10367629	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.983000	0.93477	1.969000	0.57287	0.555000	0.69702	ACG	0.670000		TCGA-HZ-A8P1-01A-11D-A377-08	0.662	CDC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451987.1	0	0	1	2	2	2	2	0	0	0	0	111	111	111	111	1	1.880000	-3.132882	1	0.670000	NM_007065		0	9	9	0	445	439	0		1	1		0	0	111	0	0	0.993960	9.976085e-01	0	22	0	522	0	9	445
OR10H4	126541	broad.mit.edu	37	19	16060573	16060573	+	Silent	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr19:16060573G>A	ENST00000322107.1	+	1	756	c.756G>A	c.(754-756)acG>acA	p.T252T		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	252						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						TGGTGGTCACGCACTATAGTT	0.517																																						ENST00000322107.1	0.150000	4.000000e-02	0.120000	6.000000e-02	0.090000	0.098562	0.090000	0.100000																										0				17						c.(754-756)acG>acA		olfactory receptor, family 10, subfamily H, member 4							169.0	141.0	151.0					19																	16060573		2203	4300	6503	SO:0001819	synonymous_variant	126541	6	121412	40				g.chr19:16060573G>A	AC011517	CCDS32941.1	19p13.12	2013-09-24			ENSG00000176231	ENSG00000176231		"""GPCR / Class A : Olfactory receptors"""	15388	protein-coding gene	gene with protein product							Standard	NM_001004465		Approved		uc010xov.2	Q8NGA5	OTTHUMG00000182268	ENST00000322107.1:c.756G>A	chr19.hg19:g.16060573G>A		0						p.T252T	NM_001004465.1	NP_001004465.1	0	0	0	2.080911	Q8NGA5	O10H4_HUMAN		1	756	+			Q6IFJ2|Q96R57	Silent	SNP	ENST00000322107.1	1	1	hg19	c.756G>A	CCDS32941.1	0																																																																																								0.670000		TCGA-HZ-A8P1-01A-11D-A377-08	0.517	OR10H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460311.1	0	0	1	2	2	2	2	0	0	0	0	246	246	246	245	1	1.880000	-3.342193	1	0.670000			0	15	15	0	467	459	0		1			0	0	246	0	0	0.999858	0	0	0	0	0	0	15	467
ZNF681	148213	broad.mit.edu	37	19	23927502	23927502	+	Missense_Mutation	SNP	G	G	A	rs150717337		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr19:23927502G>A	ENST00000402377.3	-	4	991	c.850C>T	c.(850-852)Cgt>Tgt	p.R284C	ZNF681_ENST00000395385.3_Missense_Mutation_p.R215C	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	284					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CATTCTTCACGTTTGTAGGGA	0.363																																						ENST00000402377.3	1.000000	9.200000e-01	1.000000	9.900000e-01	0.990000	0.993793	0.990000	1.000000																										0				21						c.(850-852)Cgt>Tgt		zinc finger protein 681							135.0	139.0	138.0					19																	23927502		2203	4300	6503	SO:0001583	missense	148213	4	121412	38				g.chr19:23927502G>A	AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"""Zinc fingers, C2H2-type"", ""-"""	26457	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31526"""						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.850C>T	chr19.hg19:g.23927502G>A	ENSP00000384000:p.Arg284Cys	0					ZNF681_ENST00000395385.3_Missense_Mutation_p.R215C	p.R284C	NM_138286.2	NP_612143.2	0	0	0	2.080911	Q96N22	ZN681_HUMAN		4	991	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	B3KVF7	Missense_Mutation	SNP	ENST00000402377.3	1	0	hg19	c.850C>T	CCDS12414.2	1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.415996	0.00191	.	.	ENSG00000196172	ENST00000402377;ENST00000395385	T;T	0.04083	3.71;3.71	1.51	-3.01	0.05463	1.51	-3.01	0.05463	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	.	.	.	.	T	0.00440	0.0014	N	0.00000	-3.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41324	-0.9515	9	0.02654	T	1	.	3.8893	0.09111	0.6556:0.0:0.1587:0.1857	.	284	Q96N22	ZN681_HUMAN	C	284;215	ENSP00000384000:R284C;ENSP00000378783:R215C	ENSP00000378783:R215C	R	-	1	0	0	ZNF681	23719342	23719342	0.946000	0.32159	0.000000	0.03702	0.000000	0.00434	3.279000	0.51670	-2.305000	0.00654	-1.745000	0.00682	CGT	0.670000		TCGA-HZ-A8P1-01A-11D-A377-08	0.363	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2	1	0	1	2	2	2	2	0	0	0	0	144	144	144	144	1	1.880000	-13.915720	1	0.670000	NM_138286		0	108	106	0	189	188	1		1			0	0	144	0	0	1.000000	0	0	0	0	0	0	108	189
PPP2R1A	5518	broad.mit.edu	37	19	52724361	52724361	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr19:52724361G>A	ENST00000322088.6	+	12	1551	c.1493G>A	c.(1492-1494)cGc>cAc	p.R498H	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.R443H|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.R319H|CTD-2525I3.3_ENST00000593857.1_RNA	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	498	PP2A subunit C binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		TACCTGCACCGCATGACTACG	0.572			Mis		clear cell ovarian carcinoma																																	ENST00000322088.6	0.120000	2.000000e-02	0.090000	3.000000e-02	0.050000	0.066318	0.050000	0.060000				Dom?	yes			Dom?	yes		19	19q13.41	19q13.41	5518	Mis	"""protein phosphatase 2, regulatory subunit A, alpha"""				E	E			clear cell ovarian carcinoma		0				135						c.(1492-1494)cGc>cAc		protein phosphatase 2, regulatory subunit A, alpha							168.0	139.0	149.0					19																	52724361		2203	4300	6503	SO:0001583	missense	5518	0	0					g.chr19:52724361G>A		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.1493G>A	chr19.hg19:g.52724361G>A	ENSP00000324804:p.Arg498His	0					CTD-2525I3.3_ENST00000593857.1_RNA|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.R319H|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.R443H	p.R498H	NM_014225.5	NP_055040.2	1	2	3	2.107334	P30153	2AAA_HUMAN		12	1551	+			Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	0	1	hg19	c.1493G>A	CCDS12849.1	0	.	.	.	.	.	.	.	.	.	.	G	21.2	4.118398	0.77323	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000436460;ENST00000444322	T;T	0.55052	0.54;0.54	4.67	3.63	0.41609	4.67	3.63	0.41609	Armadillo-like helical (1);Armadillo-type fold (1);	0.100234	0.40144	N	0.001161	T	0.79621	0.4477	H	0.96662	3.86	0.53005	D	0.999962	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84438	0.0581	10	0.87932	D	0	-9.5593	10.7389	0.46141	0.0931:0.0:0.9069:0.0	.	443;498	F5H3X9;P30153	.;2AAA_HUMAN	H	488;418;498;65;443	ENSP00000324804:R498H;ENSP00000415067:R443H	ENSP00000324804:R498H	R	+	2	0	0	PPP2R1A	57416173	57416173	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	8.837000	0.92110	1.325000	0.45301	0.655000	0.94253	CGC	0.671102		TCGA-HZ-A8P1-01A-11D-A377-08	0.572	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	0	0	1	2	2	2	2	0	0	0	0	106	106	106	105	1	1.880000	-2.287558	0	0.670000	NM_014225		0	7	7	0	352	346	0		1	0		0	0	106	0	0	0.979666	9.979717e-01	0	0	0	614	0	7	352
ZNF761	388561	broad.mit.edu	37	19	53960395	53960395	+	RNA	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr19:53960395G>A	ENST00000454407.1	+	0	3087							Q86XN6	ZN761_HUMAN	zinc finger protein 761						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(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GCAATCCATGGTGTAGGGAAA	0.413																																						ENST00000454407.1	0.950000	4.800000e-01	0.820000	5.800000e-01	0.690000	0.707293	0.690000	0.700000																										0				30								zinc finger protein 761																																						388561	0	0					g.chr19:53960395G>A	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		chr19.hg19:g.53960395G>A		0									1	2	3	2.107334	Q86XN6	ZN761_HUMAN		0	3087	+			Q6ZNB9	RNA	SNP	ENST00000454407.1	1	1	hg19			0																																																																																								0.671102		TCGA-HZ-A8P1-01A-11D-A377-08	0.413	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		0	0	1	2	2	2	2	0	0	0	0	66	66	66	66	1	1.880000	-20.000000	1	0.670000	NM_001008401		0	27	27	0	89	88	0		1	1		0	0	66	0	0	1.000000	9.803623e-01	0	14	0	10	0	27	89
ZSCAN1	284312	broad.mit.edu	37	19	58549369	58549369	+	Silent	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr19:58549369G>A	ENST00000282326.1	+	3	412	c.165G>A	c.(163-165)gcG>gcA	p.A55A	ZSCAN1_ENST00000391700.1_Silent_p.A55A|ZSCAN1_ENST00000601162.1_Silent_p.A55A	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	55	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CGCACCTCGCGCTGGGCCAGC	0.706																																						ENST00000282326.1	0.910000	4.600000e-01	0.790000	5.600000e-01	0.660000	0.678897	0.660000	0.660000																										0				48						c.(163-165)gcG>gcA		zinc finger and SCAN domain containing 1							14.0	15.0	15.0					19																	58549369		2184	4280	6464	SO:0001819	synonymous_variant	284312	0	0					g.chr19:58549369G>A	AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.165G>A	chr19.hg19:g.58549369G>A		0					ZSCAN1_ENST00000391700.1_Silent_p.A55A|ZSCAN1_ENST00000601162.1_Silent_p.A55A	p.A55A	NM_182572.3	NP_872378.3	1	2	3	2.105595	Q8NBB4	ZSCA1_HUMAN		3	412	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	Q3B798|Q6WLH8|Q86WS8	Silent	SNP	ENST00000282326.1	1	1	hg19	c.165G>A	CCDS12969.1	0																																																																																								0.671102		TCGA-HZ-A8P1-01A-11D-A377-08	0.706	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	1	0	1	2	2	2	2	0	0	0	0	27	27	27	26	1	1.880000	-20.000000	1	0.670000	NM_182572		0	27	26	0	94	90	0		1			0	0	27	0	0	1.000000	0	0	0	0	0	0	27	94
NBPF14	25832	broad.mit.edu	37	1	148017611	148017611	+	Silent	SNP	A	A	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:148017611A>G	ENST00000369219.1	-	6	688	c.672T>C	c.(670-672)ggT>ggC	p.G224G				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	224	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					GAGTCGAATAACCTTCATCCC	0.493																																						ENST00000369219.1	0.410000	3.000000e-01	0.390000	3.300000e-01	0.350000	0.365018	0.350000	0.360000																										0				42						c.(670-672)ggT>ggC		neuroblastoma breakpoint family, member 14							38.0	48.0	44.0					1																	148017611		1403	2580	3983	SO:0001819	synonymous_variant	25832	0	0					g.chr1:148017611A>G	AK092351		1q21.1	2013-01-17			ENSG00000122497			"""neuroblastoma breakpoint family"""	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.672T>C	chr1.hg19:g.148017611A>G		1						p.G224G			1	2	3	2.790314	Q5TI25	NBPFE_HUMAN		6	688	-	all_hematologic(923;0.032)		Q5TI23|Q8IX76|Q9UJI9	Silent	SNP	ENST00000369219.1	1	1	hg19	c.672T>C		0	.	.	.	.	.	.	.	.	.	.	a	0.613	-0.824159	0.02755	.	.	ENSG00000122497	ENST00000310701;ENST00000444640;ENST00000431121;ENST00000436356;ENST00000448574;ENST00000458135;ENST00000392972;ENST00000426874	.	.	.	.	.	.	.	.	.	.	.	.	.	.	T	0.08714	0.0216	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36504	-0.9745	2	.	.	.	.	.	.	.	.	.	.	.	A	230;235;235;235;235;235;235;235	.	.	V	-	2	0	0	NBPF14	146484235	146484235	0.998000	0.40836	0.001000	0.08648	0.001000	0.01503	0.794000	0.26958	-0.557000	0.06126	-0.558000	0.04189	GTT	0.752809		TCGA-HZ-A8P1-01A-11D-A377-08	0.493	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	0	1	2	4	2	2	1	1	1	1	494	494	494	990	1	1.880000	-20.000000	1	0.670000	NM_015383		0	213	84	0	2121	362	0		1	0		1	0	494	0	0	1.000000	0	0	0	0	1	0	213	2121
USH2A	7399	broad.mit.edu	37	1	216061988	216061988	+	Missense_Mutation	SNP	T	T	C	rs267598377		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:216061988T>C	ENST00000307340.3	-	41	8389	c.8003A>G	c.(8002-8004)gAa>gGa	p.E2668G	RP5-1111A8.3_ENST00000414995.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.E2668G	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2668	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGTAGTAACTTCTTCCTTTCC	0.448										HNSCC(13;0.011)																												ENST00000307340.3	0.250000	8.000000e-02	0.210000	1.200000e-01	0.150000	0.167640	0.150000	0.150000																										0				527						c.(8002-8004)gAa>gGa		Usher syndrome 2A (autosomal recessive, mild)							83.0	89.0	87.0					1																	216061988		2203	4300	6503	SO:0001583	missense	7399	0	0					g.chr1:216061988T>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.8003A>G	chr1.hg19:g.216061988T>C	ENSP00000305941:p.Glu2668Gly	1	HNSCC(13;0.011)				USH2A_ENST00000366943.2_Missense_Mutation_p.E2668G|RP5-1111A8.3_ENST00000414995.1_RNA	p.E2668G	NM_206933.2	NP_996816	1	2	3	2.806879	O75445	USH2A_HUMAN		41	8389	-			Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	1	1	hg19	c.8003A>G	CCDS31025.1	0	.	.	.	.	.	.	.	.	.	.	T	12.06	1.823185	0.32237	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.57752	0.38;0.38	5.84	3.43	0.39272	5.84	3.43	0.39272	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.755657	0.11112	N	0.598495	T	0.53642	0.1809	L	0.56396	1.775	0.33957	D	0.645209	B	0.32653	0.379	B	0.38378	0.272	T	0.56553	-0.7960	10	0.31617	T	0.26	.	12.7182	0.57127	0.0:0.0:0.2598:0.7402	.	2668	O75445	USH2A_HUMAN	G	2668	ENSP00000305941:E2668G;ENSP00000355910:E2668G	ENSP00000305941:E2668G	E	-	2	0	0	USH2A	214128611	214128611	1.000000	0.71417	0.178000	0.23040	0.663000	0.39108	3.614000	0.54160	0.422000	0.26005	0.533000	0.62120	GAA	0.752809		TCGA-HZ-A8P1-01A-11D-A377-08	0.448	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	1	0	1	2	2	2	2	0	0	0	0	114	114	114	113	1	1.880000	-15.787510	1	0.670000	NM_007123		0	15	14	0	363	359	0		1			0	0	114	0	0	0.999866	0	0	0	0	0	0	15	363
ESRRG	2104	broad.mit.edu	37	1	216737608	216737608	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:216737608G>A	ENST00000408911.3	-	5	968	c.815C>T	c.(814-816)gCc>gTc	p.A272V	ESRRG_ENST00000360012.3_Missense_Mutation_p.A249V|ESRRG_ENST00000361525.3_Missense_Mutation_p.A249V|ESRRG_ENST00000366940.2_Missense_Mutation_p.A249V|ESRRG_ENST00000361395.2_Missense_Mutation_p.A249V|ESRRG_ENST00000487276.1_Missense_Mutation_p.A249V|ESRRG_ENST00000366937.1_Missense_Mutation_p.A284V|ESRRG_ENST00000493748.1_Missense_Mutation_p.A249V|ESRRG_ENST00000366938.2_Missense_Mutation_p.A249V|ESRRG_ENST00000391890.3_Missense_Mutation_p.A256V|ESRRG_ENST00000463665.1_Missense_Mutation_p.A210V|ESRRG_ENST00000493603.1_Missense_Mutation_p.A249V|ESRRG_ENST00000359162.2_Missense_Mutation_p.A249V	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	272					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.A272V(1)		endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CTCTCGGTCGGCCAAGTCACA	0.463																																						ENST00000408911.3	0.110000	0	0.080000	2.000000e-02	0.050000	0.057059	0.050000	0.060000																										1	Substitution - Missense(1)	p.A272V(1)	lung(1)	49						c.(814-816)gCc>gTc		estrogen-related receptor gamma	Diethylstilbestrol(DB00255)						178.0	156.0	163.0					1																	216737608		2203	4300	6503	SO:0001583	missense	2104	0	0					g.chr1:216737608G>A	AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"""Nuclear hormone receptors"""	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.815C>T	chr1.hg19:g.216737608G>A	ENSP00000386171:p.Ala272Val	1					ESRRG_ENST00000463665.1_Missense_Mutation_p.A210V|ESRRG_ENST00000366938.2_Missense_Mutation_p.A249V|ESRRG_ENST00000361525.3_Missense_Mutation_p.A249V|ESRRG_ENST00000493603.1_Missense_Mutation_p.A249V|ESRRG_ENST00000487276.1_Missense_Mutation_p.A249V|ESRRG_ENST00000359162.2_Missense_Mutation_p.A249V|ESRRG_ENST00000391890.3_Missense_Mutation_p.A256V|ESRRG_ENST00000366937.1_Missense_Mutation_p.A284V|ESRRG_ENST00000361395.2_Missense_Mutation_p.A249V|ESRRG_ENST00000493748.1_Missense_Mutation_p.A249V|ESRRG_ENST00000360012.3_Missense_Mutation_p.A249V|ESRRG_ENST00000366940.2_Missense_Mutation_p.A249V	p.A272V	NM_001438.3	NP_001429.2	1	2	3	2.806879	P62508	ERR3_HUMAN		5	968	-			A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Missense_Mutation	SNP	ENST00000408911.3	0	1	hg19	c.815C>T	CCDS41468.1	0	.	.	.	.	.	.	.	.	.	.	G	16.02	3.003172	0.54254	.	.	ENSG00000196482	ENST00000361525;ENST00000366940;ENST00000366937;ENST00000408911;ENST00000359162;ENST00000361395;ENST00000366938;ENST00000360012;ENST00000493603;ENST00000391890;ENST00000463665;ENST00000487276;ENST00000354407;ENST00000493748;ENST00000475275	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96802	-4.13;-4.13;-4.13;-4.13;-4.13;-4.13;-4.13;-4.13;-4.13;-4.13;-4.13;-4.13;-4.13;-4.13	5.56	4.65	0.58169	5.56	4.65	0.58169	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.97648	0.9229	M	0.75085	2.285	0.80722	D	1	B;D;D	0.89917	0.322;1.0;0.999	B;D;D	0.68192	0.199;0.949;0.956	D	0.98206	1.0470	10	0.87932	D	0	.	14.6034	0.68460	0.0705:0.0:0.9295:0.0	.	210;284;272	E9PGB7;F8W8J3;P62508	.;.;ERR3_HUMAN	V	249;249;284;272;249;249;249;249;249;256;210;249;249;249;249	ENSP00000355225:A249V;ENSP00000355907:A249V;ENSP00000355904:A284V;ENSP00000386171:A272V;ENSP00000352077:A249V;ENSP00000354584:A249V;ENSP00000355905:A249V;ENSP00000353108:A249V;ENSP00000419594:A249V;ENSP00000375761:A256V;ENSP00000418629:A210V;ENSP00000419155:A249V;ENSP00000417374:A249V;ENSP00000419514:A249V	ENSP00000346386:A249V	A	-	2	0	0	ESRRG	214804231	214804231	1.000000	0.71417	0.812000	0.32479	0.762000	0.43233	9.869000	0.99810	1.339000	0.45563	0.655000	0.94253	GCC	0.752809		TCGA-HZ-A8P1-01A-11D-A377-08	0.463	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2	0	0	1	2	2	2	2	0	0	0	0	106	106	106	105	1	1.880000	-2.232727	0	0.670000	NM_206595		0	6	6	0	475	469	0		1			0	0	106	0	0	0.963803	0	0	0	0	0	0	6	475
EPHB2	2048	broad.mit.edu	37	1	23240039	23240039	+	Silent	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:23240039C>T	ENST00000400191.3	+	16	2955	c.2937C>T	c.(2935-2937)aaC>aaT	p.N979N	EPHB2_ENST00000374630.3_Silent_p.N979N|EPHB2_ENST00000374632.3_Silent_p.N980N|EPHB2_ENST00000374627.1_3'UTR	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	979					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CGCAGATGAACCAGATTCAGT	0.587																																						ENST00000400191.3	0.970000	6.600000e-01	0.920000	7.400000e-01	0.820000	0.832208	0.820000	0.840000																										0				56						c.(2935-2937)aaC>aaT		EPH receptor B2							87.0	90.0	89.0					1																	23240039		2203	4300	6503	SO:0001819	synonymous_variant	2048	0	0					g.chr1:23240039C>T	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.2937C>T	chr1.hg19:g.23240039C>T		1					EPHB2_ENST00000374630.3_Silent_p.N979N|EPHB2_ENST00000374632.3_Silent_p.N980N|EPHB2_ENST00000374627.1_3'UTR	p.N979N	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	0	1	1	1.448612	P29323	EPHB2_HUMAN		16	2955	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)	O43477|Q5T0U6|Q5T0U7|Q5T0U8	Silent	SNP	ENST00000400191.3	1	1	hg19	c.2937C>T		0																																																																																								0.503759		TCGA-HZ-A8P1-01A-11D-A377-08	0.587	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	1	0	1	2	2	2	2	0	0	0	0	44	44	44	44	1	1.880000	-20.000000	1	0.670000	NM_017449		0	51	51	0	69	68	1		1	0		0	0	44	0	0	1.000000	7.022916e-01	0	1	0	4	0	51	69
MATN1	4146	broad.mit.edu	37	1	31191606	31191606	+	Silent	SNP	T	T	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:31191606T>G	ENST00000373765.4	-	3	675	c.640A>C	c.(640-642)Agg>Cgg	p.R214R	MATN1_ENST00000477320.1_5'UTR|MATN1-AS1_ENST00000414763.1_RNA|MATN1-AS1_ENST00000454613.1_RNA|MATN1-AS1_ENST00000414532.2_RNA	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	214	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|growth plate cartilage chondrocyte morphogenesis (GO:0003429)|protein complex assembly (GO:0006461)|regulation of bone mineralization (GO:0030500)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		TGGAACTTCCTGGACAGCTTC	0.706																																						ENST00000373765.4	1.000000	6.800000e-01	0.960000	7.800000e-01	0.880000	0.874151	0.880000	0.920000																										0				12						c.(640-642)Agg>Cgg		matrilin 1, cartilage matrix protein							42.0	38.0	39.0					1																	31191606		2203	4300	6503	SO:0001819	synonymous_variant	4146	3	121232	38				g.chr1:31191606T>G	M55675	CCDS336.1	1p35	2008-02-05			ENSG00000162510	ENSG00000162510			6907	protein-coding gene	gene with protein product		115437		CRTM, CMP		2246248, 9083061	Standard	NM_002379		Approved		uc001brz.3	P21941	OTTHUMG00000003705	ENST00000373765.4:c.640A>C	chr1.hg19:g.31191606T>G		1					MATN1-AS1_ENST00000454613.1_RNA|MATN1-AS1_ENST00000414763.1_RNA|MATN1_ENST00000477320.1_5'UTR|MATN1-AS1_ENST00000414532.2_RNA	p.R214R	NM_002379.3	NP_002370.1	0	1	1	1.448612	P21941	MATN1_HUMAN		3	675	-		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	B2R7E3|Q5TBB9	Silent	SNP	ENST00000373765.4	1	1	hg19	c.640A>C	CCDS336.1	1																																																																																								0.503759		TCGA-HZ-A8P1-01A-11D-A377-08	0.706	MATN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010458.1	1	0	1	2	2	2	2	0	0	0	0	30	30	30	30	1	1.880000	-20.000000	1	0.670000	NM_002379		0	32	32	0	36	36	0		1			0	0	30	0	0	1.000000	0	0	0	0	0	0	32	36
CYP4X1	260293	broad.mit.edu	37	1	47514244	47514244	+	Silent	SNP	C	C	T	rs190394183	byFrequency	TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:47514244C>T	ENST00000371901.3	+	10	1465	c.1215C>T	c.(1213-1215)acC>acT	p.T405T	CYP4X1_ENST00000538609.1_Silent_p.T404T	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	405						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						TAGGGATCACCGTGGTTCTTA	0.423													C|||	2	0.000399361	0.0	0.0	5008	,	,		19642	0.002		0.0	False		,,,				2504	0.0					ENST00000371901.3	0.080000	2.000000e-02	0.060000	3.000000e-02	0.040000	0.051079	0.040000	0.050000																										0				17						c.(1213-1215)acC>acT		cytochrome P450, family 4, subfamily X, polypeptide 1							216.0	232.0	227.0					1																	47514244		2203	4300	6503	SO:0001819	synonymous_variant	260293	1	121412	43				g.chr1:47514244C>T	AK091806	CCDS544.1	1p33	2008-02-05			ENSG00000186377	ENSG00000186377		"""Cytochrome P450s"""	20244	protein-coding gene	gene with protein product		614999				12176035	Standard	NM_178033		Approved	MGC40051	uc001cqt.3	Q8N118	OTTHUMG00000008017	ENST00000371901.3:c.1215C>T	chr1.hg19:g.47514244C>T		1					CYP4X1_ENST00000538609.1_Silent_p.T404T	p.T405T	NM_178033.1	NP_828847.1	0	1	1	1.448612	Q8N118	CP4X1_HUMAN		10	1465	+			G3V1U1|Q5VVE5|Q6ZN67|Q8NAZ3	Silent	SNP	ENST00000371901.3	1	1	hg19	c.1215C>T	CCDS544.1	0																																																																																								0.503759		TCGA-HZ-A8P1-01A-11D-A377-08	0.423	CYP4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022017.1	0	0	1	2	2	2	2	0	0	0	0	298	298	298	296	1	1.880000	-1.866828	0	0.670000	NM_178033		0	13	13	0	528	519	0		1	0		0	0	298	0	0	0.999487	7.109197e-04	0	0	0	2	0	13	528
ACADM	34	broad.mit.edu	37	1	76226969	76226969	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:76226969A>G	ENST00000370841.4	+	11	1545	c.1108A>G	c.(1108-1110)Act>Gct	p.T370A	ACADM_ENST00000543667.1_Missense_Mutation_p.T181A|ACADM_ENST00000481374.1_3'UTR|ACADM_ENST00000370834.5_Missense_Mutation_p.T403A|ACADM_ENST00000541113.1_Missense_Mutation_p.T334A|ACADM_ENST00000420607.2_Missense_Mutation_p.T374A	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	370					cardiac muscle cell differentiation (GO:0055007)|carnitine biosynthetic process (GO:0045329)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|glycogen biosynthetic process (GO:0005978)|liver development (GO:0001889)|medium-chain fatty acid catabolic process (GO:0051793)|medium-chain fatty acid metabolic process (GO:0051791)|oxidation-reduction process (GO:0055114)|post-embryonic development (GO:0009791)|regulation of gluconeogenesis (GO:0006111)|response to cold (GO:0009409)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|identical protein binding (GO:0042802)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18					Flavin adenine dinucleotide(DB03147)	TCAGTTAGCTACTGATGCTGT	0.393																																						ENST00000370841.4	0.960000	7.300000e-01	0.910000	7.800000e-01	0.840000	0.850791	0.840000	0.850000																										0				18						c.(1108-1110)Act>Gct		acyl-CoA dehydrogenase, C-4 to C-12 straight chain	Flavin adenine dinucleotide(DB03147)						160.0	152.0	155.0					1																	76226969		2203	4300	6503	SO:0001583	missense	34	0	0					g.chr1:76226969A>G	M16827	CCDS668.1, CCDS44165.1, CCDS65562.1, CCDS72807.1	1p31	2014-09-17	2010-04-30		ENSG00000117054	ENSG00000117054	1.3.99.3		89	protein-coding gene	gene with protein product		607008	"""acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain"""			3035565	Standard	NM_000016		Approved	MCAD, MCADH, ACAD1	uc009wbp.3	P11310	OTTHUMG00000009784	ENST00000370841.4:c.1108A>G	chr1.hg19:g.76226969A>G	ENSP00000359878:p.Thr370Ala	1					ACADM_ENST00000370834.5_Missense_Mutation_p.T403A|ACADM_ENST00000543667.1_Missense_Mutation_p.T181A|ACADM_ENST00000481374.1_3'UTR|ACADM_ENST00000420607.2_Missense_Mutation_p.T374A|ACADM_ENST00000541113.1_Missense_Mutation_p.T334A	p.T370A	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	0	1	1	1.448612	P11310	ACADM_HUMAN		11	1545	+			Q5T4U4|Q9NYF1	Missense_Mutation	SNP	ENST00000370841.4	1	1	hg19	c.1108A>G	CCDS668.1	0	.	.	.	.	.	.	.	.	.	.	A	10.88	1.475492	0.26511	.	.	ENSG00000117054	ENST00000370841;ENST00000370834;ENST00000541113;ENST00000543667;ENST00000420607	D;D;D;D;D	0.95885	-3.84;-3.84;-3.84;-3.84;-3.84	5.21	-0.354	0.12591	5.21	-0.354	0.12591	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.749864	0.13164	N	0.408858	D	0.84479	0.5481	L	0.39514	1.22	0.09310	N	0.999999	B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.0	B;B;B;B;B	0.12156	0.003;0.005;0.007;0.002;0.005	T	0.76751	-0.2844	10	0.56958	D	0.05	.	6.9288	0.24429	0.3076:0.0:0.0733:0.619	.	334;284;403;374;370	B7Z9I1;B4DVE0;Q5T4U5;P11310-2;P11310	.;.;.;.;ACADM_HUMAN	A	370;403;334;181;374	ENSP00000359878:T370A;ENSP00000359871:T403A;ENSP00000442324:T334A;ENSP00000446176:T181A;ENSP00000409612:T374A	ENSP00000359871:T403A	T	+	1	0	0	ACADM	75999557	75999557	0.000000	0.05858	0.515000	0.27774	0.808000	0.45660	-2.126000	0.01316	-0.251000	0.09542	0.482000	0.46254	ACT	0.503759		TCGA-HZ-A8P1-01A-11D-A377-08	0.393	ACADM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026967.1	1	0	1	2	2	2	2	0	0	0	0	147	147	147	147	1	1.880000	-20.000000	1	0.670000			0	120	119	0	159	158	1		1	1		0	0	147	0	0	1.000000	1	0	30	0	11	0	120	159
TLR5	7100	broad.mit.edu	37	1	223285330	223285330	+	Silent	SNP	C	C	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:223285330C>G	ENST00000540964.1	-	4	1505	c.1044G>C	c.(1042-1044)ctG>ctC	p.L348L	TLR5_ENST00000342210.6_Silent_p.L348L			O60602	TLR5_HUMAN	toll-like receptor 5	348					cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		AAAGTTCCCCCAGAAGGTTAT	0.363																																						ENST00000540964.1	1.000000	8.300000e-01	1.000000	8.900000e-01	0.960000	0.954357	0.960000	1.000000																										0				32						c.(1042-1044)ctG>ctC		toll-like receptor 5							93.0	93.0	93.0					1																	223285330		2203	4300	6503	SO:0001819	synonymous_variant	7100	0	0					g.chr1:223285330C>G		CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"""Toll/interleukin-1 receptor-like protein 3"""	603031	"""systemic lupus erythematosus susceptibility 1"""	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.1044G>C	chr1.hg19:g.223285330C>G		1					TLR5_ENST00000342210.6_Silent_p.L348L	p.L348L			1	2	3	2.806879	O60602	TLR5_HUMAN		4	1505	-			B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Silent	SNP	ENST00000540964.1	1	1	hg19	c.1044G>C	CCDS31033.1	1																																																																																								0.752809		TCGA-HZ-A8P1-01A-11D-A377-08	0.363	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		1	0	1	2	2	2	2	0	0	0	0	202	202	202	200	1	1.880000	-5.126123	1	0.670000	NM_003268		0	149	147	0	465	461	1		1	1		0	0	202	0	0	1.000000	4.501699e-01	0	3	0	3	0	149	465
KRTAP24-1	643803	broad.mit.edu	37	21	31654689	31654689	+	Missense_Mutation	SNP	C	C	T	rs200135144		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr21:31654689C>T	ENST00000340345.4	-	1	587	c.562G>A	c.(562-564)Gtc>Atc	p.V188I		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	188						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						AATGGTGAGACGTAGCTGGGT	0.418																																						ENST00000340345.4	1.000000	8.300000e-01	1.000000	8.900000e-01	0.950000	0.950356	0.950000	1.000000																										0				14						c.(562-564)Gtc>Atc		keratin associated protein 24-1							130.0	126.0	127.0					21																	31654689		1872	4106	5978	SO:0001583	missense	643803	2	120822	38				g.chr21:31654689C>T	AB096935	CCDS42915.1	21q22.11	2007-11-23			ENSG00000188694	ENSG00000188694		"""Keratin associated proteins"""	33902	protein-coding gene	gene with protein product							Standard	NM_001085455		Approved	KAP24.1	uc002ynv.3	Q3LI83	OTTHUMG00000125483	ENST00000340345.4:c.562G>A	chr21.hg19:g.31654689C>T	ENSP00000339238:p.Val188Ile	0						p.V188I	NM_001085455.1	NP_001078924.1	1	2	3	2.100437	Q3LI83	KR241_HUMAN		1	587	-			Q1XDX0	Missense_Mutation	SNP	ENST00000340345.4	1	1	hg19	c.562G>A	CCDS42915.1	1	.	.	.	.	.	.	.	.	.	.	c	0.016	-1.524270	0.00959	.	.	ENSG00000188694	ENST00000340345	T	0.03889	3.77	4.8	0.977	0.19733	4.8	0.977	0.19733	.	0.648359	0.14303	N	0.328131	T	0.02083	0.0065	N	0.08118	0	0.09310	N	1	B	0.21688	0.059	B	0.17722	0.019	T	0.46247	-0.9205	10	0.25106	T	0.35	-4.483	2.1659	0.03837	0.5894:0.1668:0.09:0.1539	.	188	Q3LI83	KR241_HUMAN	I	188	ENSP00000339238:V188I	ENSP00000339238:V188I	V	-	1	0	0	KRTAP24-1	30576560	30576560	0.766000	0.28496	0.020000	0.16555	0.034000	0.12701	0.517000	0.22832	0.070000	0.16634	-1.971000	0.00464	GTC	0.671102		TCGA-HZ-A8P1-01A-11D-A377-08	0.418	KRTAP24-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246806.2	1	0	1	2	2	2	2	0	0	0	0	199	199	199	199	1	1.880000	-20.000000	1	0.670000	NM_001085455		0	151	149	0	320	315	1		1			0	0	199	0	0	1.000000	0	0	0	0	0	0	151	320
LRP1B	53353	broad.mit.edu	37	2	141243054	141243054	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:141243054C>T	ENST00000389484.3	-	59	10254	c.9283G>A	c.(9283-9285)Gat>Aat	p.D3095N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3095					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCAATCCAATCGACAGCAAGT	0.373										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3	0.090000	0	0.070000	2.000000e-02	0.040000	0.048246	0.040000	0.040000																										0				606						c.(9283-9285)Gat>Aat		low density lipoprotein receptor-related protein 1B							128.0	119.0	122.0					2																	141243054		2203	4300	6503	SO:0001583	missense	53353	0	0					g.chr2:141243054C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.9283G>A	chr2.hg19:g.141243054C>T	ENSP00000374135:p.Asp3095Asn	0	TSP Lung(27;0.18)					p.D3095N	NM_018557.2	NP_061027.2	0	0	0	2.058839	Q9NZR2	LRP1B_HUMAN		59	10254	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	0	1	hg19	c.9283G>A	CCDS2182.1	0	.	.	.	.	.	.	.	.	.	.	C	36	5.839800	0.97009	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.98876	-5.2	5.43	5.43	0.79202	5.43	5.43	0.79202	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.99324	0.9763	M	0.90369	3.11	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.99146	1.0857	10	0.87932	D	0	.	19.5951	0.95533	0.0:1.0:0.0:0.0	.	3095	Q9NZR2	LRP1B_HUMAN	N	3095;3033	ENSP00000374135:D3095N	ENSP00000374135:D3095N	D	-	1	0	0	LRP1B	140959524	140959524	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.501000	0.81600	2.693000	0.91896	0.650000	0.86243	GAT	0.667774		TCGA-HZ-A8P1-01A-11D-A377-08	0.373	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	0	0	1	2	2	2	2	0	0	0	0	119	119	119	119	1	1.880000	-3.030756	1	0.670000	NM_018557		0	5	5	0	360	357	0		1			0	0	119	0	0	0.936139	0	0	0	0	0	0	5	360
GALNT13	114805	broad.mit.edu	37	2	155099379	155099379	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:155099379G>A	ENST00000392825.3	+	6	1214	c.647G>A	c.(646-648)gGa>gAa	p.G216E	GALNT13_ENST00000409237.1_Missense_Mutation_p.G216E	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	216	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TGCACGTTAGGATGGCTGGAG	0.473																																						ENST00000392825.3	0.190000	3.000000e-02	0.140000	5.000000e-02	0.090000	0.102540	0.090000	0.080000																										0				65						c.(646-648)gGa>gAa		polypeptide N-acetylgalactosaminyltransferase 13							82.0	77.0	79.0					2																	155099379		2203	4300	6503	SO:0001583	missense	114805	0	0					g.chr2:155099379G>A	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.647G>A	chr2.hg19:g.155099379G>A	ENSP00000376570:p.Gly216Glu	0					GALNT13_ENST00000409237.1_Missense_Mutation_p.G216E	p.G216E	NM_052917.2	NP_443149.2	0	0	0	2.058839	Q8IUC8	GLT13_HUMAN		6	1214	+			Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Missense_Mutation	SNP	ENST00000392825.3	0	1	hg19	c.647G>A	CCDS2199.1	0	.	.	.	.	.	.	.	.	.	.	G	32	5.189933	0.94923	.	.	ENSG00000144278	ENST00000392825;ENST00000409237	T;T	0.59224	0.28;0.28	5.82	5.82	0.92795	5.82	5.82	0.92795	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.78792	0.4339	M	0.81341	2.54	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.80091	-0.1527	10	0.66056	D	0.02	.	19.0704	0.93134	0.0:0.0:1.0:0.0	.	216;216;216	B3KY85;Q08ER7;Q8IUC8	.;.;GLT13_HUMAN	E	216	ENSP00000376570:G216E;ENSP00000387239:G216E	ENSP00000376570:G216E	G	+	2	0	0	GALNT13	154807625	154807625	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.864000	0.99589	2.747000	0.94245	0.591000	0.81541	GGA	0.667774		TCGA-HZ-A8P1-01A-11D-A377-08	0.473	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	0	0	1	2	2	2	2	0	0	0	0	58	58	58	57	1	1.880000	-3.606342	1	0.670000	NM_052917		0	5	5	0	166	165	0		1			0	0	58	0	0	0.937511	0	0	0	0	0	0	5	166
IFIH1	64135	broad.mit.edu	37	2	163134021	163134021	+	Missense_Mutation	SNP	C	C	A	rs567418553	byFrequency	TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:163134021C>A	ENST00000263642.2	-	10	2343	c.1948G>T	c.(1948-1950)Gat>Tat	p.D650Y		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	650					cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						tactcatcatcaccaccctca	0.328																																						ENST00000263642.2	0.150000	2.000000e-02	0.110000	4.000000e-02	0.060000	0.078895	0.060000	0.060000																										0				39						c.(1948-1950)Gat>Tat		interferon induced with helicase C domain 1							119.0	99.0	106.0					2																	163134021		2202	4298	6500	SO:0001583	missense	64135	0	0					g.chr2:163134021C>A	AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"""helicard"""	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.1948G>T	chr2.hg19:g.163134021C>A	ENSP00000263642:p.Asp650Tyr	0						p.D650Y	NM_022168.3	NP_071451.2	0	0	0	2.058839	Q9BYX4	IFIH1_HUMAN		10	2343	-			Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Missense_Mutation	SNP	ENST00000263642.2	0	1	hg19	c.1948G>T	CCDS2217.1	0	.	.	.	.	.	.	.	.	.	.	C	14.19	2.461433	0.43736	.	.	ENSG00000115267	ENST00000263642;ENST00000543192	T	0.05382	3.45	5.07	2.26	0.28386	5.07	2.26	0.28386	.	0.611706	0.14567	N	0.311694	T	0.07954	0.0199	L	0.51422	1.61	0.09310	N	1	P	0.44090	0.826	B	0.41088	0.347	T	0.19679	-1.0298	10	0.48119	T	0.1	-4.9411	10.219	0.43186	0.0:0.7829:0.0:0.2171	.	650	Q9BYX4	IFIH1_HUMAN	Y	650	ENSP00000263642:D650Y	ENSP00000263642:D650Y	D	-	1	0	0	IFIH1	162842267	162842267	0.001000	0.12720	0.003000	0.11579	0.450000	0.32258	0.372000	0.20467	0.728000	0.32382	0.655000	0.94253	GAT	0.667774		TCGA-HZ-A8P1-01A-11D-A377-08	0.328	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2	0	0	1	2	2	2	2	0	0	0	0	101	101	101	100	1	1.880000	-3.319335	1	0.670000	NM_022168		0	5	5	0	218	215	0		1	0		0	0	101	0	0	0.936005	2.962217e-01	0	1	0	40	0	5	218
TTN	7273	broad.mit.edu	37	2	179578044	179578044	+	Silent	SNP	G	G	A	rs370757633		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:179578044G>A	ENST00000591111.1	-	91	26090	c.25866C>T	c.(25864-25866)tcC>tcT	p.S8622S	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Silent_p.S8939S|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Silent_p.S7695S|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12780	Ig-like 69.				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)			CTGAGGAGCCGGATAGACCAT	0.393																																						ENST00000591111.1	0.570000	7.000000e-02	0.410000	1.400000e-01	0.260000	0.285671	0.260000	0.230000																										0				1448						c.(25864-25866)tcC>tcT		titin		G	,,,	1,3717		0,1,1858	59.0	50.0	53.0		,23085,,	-2.7	0.7	2		53	0,8196		0,0,4098	no	intron,coding-synonymous,intron,intron	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,1,5956	AA,AG,GG		0.0,0.0269,0.0084	,,,	,7695/33424,,	179578044	1,11913	1859	4098	5957	SO:0001819	synonymous_variant	7273	2	119560	33				g.chr2:179578044G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.25866C>T	chr2.hg19:g.179578044G>A		0					TTN_ENST00000342992.6_Silent_p.S7695S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Silent_p.S8939S|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron	p.S8622S			0	0	0	2.058839	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)	91	26090	-			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	Silent	SNP	ENST00000591111.1	0	1	hg19	c.25866C>T		0																																																																																								0.667774		TCGA-HZ-A8P1-01A-11D-A377-08	0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	0	1	2	2	2	2	0	0	0	0	28	28	28	27	1	1.880000	-4.247734	1	0.670000	NM_133378		0	3	3	0	36	36	0		1			0	0	28	0	0	0.812658	0	0	0	0	0	0	3	36
ANKAR	150709	broad.mit.edu	37	2	190597916	190597916	+	Silent	SNP	A	A	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:190597916A>G	ENST00000520309.1	+	17	3472	c.3384A>G	c.(3382-3384)gaA>gaG	p.E1128E	ANKAR_ENST00000313581.4_Silent_p.E1128E|ANKAR_ENST00000431575.2_Silent_p.E1057E|ANKAR_ENST00000281412.6_Intron|ANKAR_ENST00000438402.2_Intron	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1128						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			AAGGATTTGAATATGCTGATG	0.333																																						ENST00000520309.1	1.000000	8.700000e-01	1.000000	9.500000e-01	0.990000	0.984935	0.990000	1.000000																										0				46						c.(3382-3384)gaA>gaG		ankyrin and armadillo repeat containing							145.0	136.0	139.0					2																	190597916		2203	4299	6502	SO:0001819	synonymous_variant	150709	0	0					g.chr2:190597916A>G	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.3384A>G	chr2.hg19:g.190597916A>G		0					ANKAR_ENST00000438402.2_Intron|ANKAR_ENST00000313581.4_Silent_p.E1128E|ANKAR_ENST00000281412.6_Intron|ANKAR_ENST00000431575.2_Silent_p.E1057E	p.E1128E	NM_144708.3	NP_653309.3	0	0	0	2.058839	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)	17	3472	+			Q3ZCS6|Q4G0M2|Q6ZU02	Silent	SNP	ENST00000520309.1	1	1	hg19	c.3384A>G	CCDS33351.2	1																																																																																								0.667774		TCGA-HZ-A8P1-01A-11D-A377-08	0.333	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	1	0	1	2	2	2	2	0	0	0	0	88	88	88	88	1	1.880000	-20.000000	1	0.670000	NM_144708		0	89	87	0	162	160	1		1	0		0	0	88	0	0	1.000000	1.274470e-01	0	0	0	2	0	89	162
C2orf88	84281	broad.mit.edu	37	2	191064754	191064754	+	Silent	SNP	T	T	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:191064754T>G	ENST00000340623.4	+	2	579	c.168T>G	c.(166-168)acT>acG	p.T56T	C2orf88_ENST00000443551.2_Silent_p.T56T|C2orf88_ENST00000396974.2_Silent_p.T56T|C2orf88_ENST00000409870.1_Silent_p.T56T	NM_001042519.1|NM_001042520.1|NM_001042521.1|NM_032321.2	NP_001035984.1|NP_001035985.1|NP_001035986.1|NP_115697.2	Q9BSF0	SMAKA_HUMAN	chromosome 2 open reading frame 88	56	PKA-RI-binding.		T -> I (in dbSNP:rs6753459). {ECO:0000269|PubMed:15489334}.			plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|lung(1)	3						GGACCAATACTGTGATCTTGG	0.453																																						ENST00000340623.4	1.000000	7.900000e-01	0.970000	8.500000e-01	0.910000	0.914285	0.910000	1.000000																										0				3						c.(166-168)acT>acG		chromosome 2 open reading frame 88							189.0	192.0	191.0					2																	191064754		1980	4154	6134	SO:0001819	synonymous_variant	84281	0	0					g.chr2:191064754T>G	BC005083	CCDS42792.1	2q32.2	2014-02-12	2009-04-08		ENSG00000187699	ENSG00000187699			28191	protein-coding gene	gene with protein product	"""small membrane AKAP"""	615117				23996002	Standard	NM_032321		Approved	MGC13057, smAKAP	uc002urt.3	Q9BSF0	OTTHUMG00000154361	ENST00000340623.4:c.168T>G	chr2.hg19:g.191064754T>G		0					C2orf88_ENST00000409870.1_Silent_p.T56T|C2orf88_ENST00000443551.2_Silent_p.T56T|C2orf88_ENST00000396974.2_Silent_p.T56T	p.T56T	NM_001042519.1|NM_001042520.1|NM_001042521.1|NM_032321.2	NP_001035984.1|NP_001035985.1|NP_001035986.1|NP_115697.2	0	0	0	2.058839	Q9BSF0	SMAKA_HUMAN		2	579	+			D3DPI3|P0C876|Q53TC7	Silent	SNP	ENST00000340623.4	1	1	hg19	c.168T>G	CCDS42792.1	1																																																																																								0.667774		TCGA-HZ-A8P1-01A-11D-A377-08	0.453	C2orf88-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334954.1	1	0	1	2	2	2	2	0	0	0	0	196	196	196	196	1	1.880000	-20.000000	1	0.670000	NM_032321		0	171	168	0	383	378	1		1	1		0	0	196	0	0	1.000000	9.989836e-01	0	4	0	22	0	171	383
ANKRD44	91526	broad.mit.edu	37	2	197943459	197943459	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:197943459C>T	ENST00000328737.2	-	16	1619	c.1543G>A	c.(1543-1545)Gcc>Acc	p.A515T	ANKRD44_ENST00000450567.1_Missense_Mutation_p.A515T|ANKRD44_ENST00000409153.1_Missense_Mutation_p.A540T|ANKRD44_ENST00000477852.1_5'Flank|ANKRD44_ENST00000282272.8_Missense_Mutation_p.A532T|ANKRD44_ENST00000539527.1_Missense_Mutation_p.A468T|ANKRD44_ENST00000337207.5_Missense_Mutation_p.A515T			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	540										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CCATAGGCGGCAGCATAATGT	0.408																																						ENST00000328737.2	0.200000	2.000000e-02	0.140000	5.000000e-02	0.090000	0.102584	0.090000	0.080000																										0				45						c.(1543-1545)Gcc>Acc		ankyrin repeat domain 44							109.0	92.0	98.0					2																	197943459		2203	4300	6503	SO:0001583	missense	91526	0	0					g.chr2:197943459C>T	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.1543G>A	chr2.hg19:g.197943459C>T	ENSP00000331516:p.Ala515Thr	0					ANKRD44_ENST00000450567.1_Missense_Mutation_p.A515T|ANKRD44_ENST00000337207.5_Missense_Mutation_p.A515T|ANKRD44_ENST00000409153.1_Missense_Mutation_p.A540T|ANKRD44_ENST00000477852.1_5'Flank|ANKRD44_ENST00000282272.8_Missense_Mutation_p.A532T|ANKRD44_ENST00000539527.1_Missense_Mutation_p.A468T	p.A515T			0	0	0	2.058839	Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)	16	1619	-			Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	ENST00000328737.2	0	1	hg19	c.1543G>A		0	.	.	.	.	.	.	.	.	.	.	C	26.3	4.725981	0.89298	.	.	ENSG00000065413	ENST00000424317;ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207;ENST00000422886;ENST00000409153;ENST00000539527	T;T;T;T;T;T;T;T	0.72942	-0.37;-0.33;-0.37;-0.37;-0.33;-0.37;-0.37;-0.7	5.25	5.25	0.73442	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.85526	0.5717	M	0.80183	2.485	0.52501	D	0.999952	D;D;D	0.76494	0.979;0.998;0.999	D;D;D	0.85130	0.923;0.997;0.997	D	0.86497	0.1801	10	0.72032	D	0.01	.	19.3941	0.94598	0.0:1.0:0.0:0.0	.	468;540;558	F5H682;Q8N8A2-3;Q8N8A2-2	.;.;.	T	355;532;515;515;515;215;540;468	ENSP00000403415:A355T;ENSP00000282272:A532T;ENSP00000331516:A515T;ENSP00000402420:A515T;ENSP00000338794:A515T;ENSP00000416319:A215T;ENSP00000387141:A540T;ENSP00000437825:A468T	ENSP00000282272:A532T	A	-	1	0	0	ANKRD44	197651704	197651704	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.685000	0.54678	2.885000	0.99019	0.655000	0.94253	GCC	0.667774		TCGA-HZ-A8P1-01A-11D-A377-08	0.408	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	0	0	1	2	11	2	2	1	1	1	1	51	51	51	49	1	1.880000	-3.318486	1	0.670000	NM_153697		0	4	4	0	138	137	0		0	0		1	0	51	0	0	0.051334	1.304540e-02	0	1	0	4	0	4	138
SATB2	23314	broad.mit.edu	37	2	200213649	200213649	+	Silent	SNP	C	C	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:200213649C>A	ENST00000417098.1	-	7	1764	c.948G>T	c.(946-948)ctG>ctT	p.L316L	SATB2_ENST00000443023.1_Silent_p.L257L|SATB2_ENST00000260926.5_Silent_p.L316L|SATB2_ENST00000457245.1_Silent_p.L316L|SATB2_ENST00000428695.1_Silent_p.L198L	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	316					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GTTGGTTTATCAGATGGGCCA	0.527																																					Colon(30;262 767 11040 24421 36230)	ENST00000417098.1	0.170000	5.000000e-02	0.140000	7.000000e-02	0.100000	0.112453	0.100000	0.100000																										0				62						c.(946-948)ctG>ctT		SATB homeobox 2							161.0	163.0	162.0					2																	200213649		2203	4300	6503	SO:0001819	synonymous_variant	23314	0	0					g.chr2:200213649C>A	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.948G>T	chr2.hg19:g.200213649C>A		0					SATB2_ENST00000443023.1_Silent_p.L257L|SATB2_ENST00000457245.1_Silent_p.L316L|SATB2_ENST00000260926.5_Silent_p.L316L|SATB2_ENST00000428695.1_Silent_p.L198L	p.L316L	NM_001172509.1	NP_001165980.1	0	0	0	2.058839	Q9UPW6	SATB2_HUMAN		7	1764	-			A8K5Z8|Q3ZB87|Q4V763	Silent	SNP	ENST00000417098.1	1	1	hg19	c.948G>T	CCDS2327.1	0																																																																																								0.667774		TCGA-HZ-A8P1-01A-11D-A377-08	0.527	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	0	0	1	2	2	2	2	0	0	0	0	163	163	163	162	1	1.880000	-3.559306	1	0.670000	NM_015265		0	14	13	0	379	376	0		1	0		0	0	163	0	0	0.999748	4.471588e-03	0	0	0	3	0	14	379
SGOL2	151246	broad.mit.edu	37	2	201436187	201436187	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:201436187G>A	ENST00000357799.4	+	7	1216	c.1118G>A	c.(1117-1119)aGc>aAc	p.S373N		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	373					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AGTGAAGTCAGCAAAATTGTC	0.338																																						ENST00000357799.4	0.120000	0	0.090000	2.000000e-02	0.050000	0.060029	0.050000	0.050000																										0				46						c.(1117-1119)aGc>aAc		shugoshin-like 2 (S. pombe)							36.0	34.0	35.0					2																	201436187		1865	4088	5953	SO:0001583	missense	151246	0	0					g.chr2:201436187G>A	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.1118G>A	chr2.hg19:g.201436187G>A	ENSP00000350447:p.Ser373Asn	0						p.S373N	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	0	0	0	2.058839	Q562F6	SGOL2_HUMAN		7	1216	+			Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	0	1	hg19	c.1118G>A	CCDS42796.1	0	.	.	.	.	.	.	.	.	.	.	G	13.50	2.256435	0.39896	.	.	ENSG00000163535	ENST00000357799	T	0.17854	2.25	5.15	4.27	0.50696	5.15	4.27	0.50696	.	0.291860	0.35495	N	0.003171	T	0.34774	0.0909	L	0.60455	1.87	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.67382	0.951;0.951;0.951	T	0.08006	-1.0743	10	0.62326	D	0.03	-1.2818	12.1889	0.54257	0.0788:0.0:0.9212:0.0	.	373;373;373	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	N	373	ENSP00000350447:S373N	ENSP00000350447:S373N	S	+	2	0	0	SGOL2	201144432	201144432	0.995000	0.38212	0.175000	0.22980	0.321000	0.28281	2.428000	0.44749	1.538000	0.49270	0.585000	0.79938	AGC	0.667774		TCGA-HZ-A8P1-01A-11D-A377-08	0.338	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	0	0	1	2	2	2	2	0	0	0	0	107	107	107	107	1	1.880000	-5.323035	1	0.670000	NM_152524		0	4	4	0	240	240	0		1	0		0	0	107	0	0	0.891111	1.453317e-03	0	0	0	3	0	4	240
SPAG16	79582	broad.mit.edu	37	2	214182035	214182035	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08			A	C	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:214182035A>C	ENST00000331683.5	+	5	586	c.491A>C	c.(490-492)aAc>aCc	p.N164T	SPAG16_ENST00000432529.2_Missense_Mutation_p.N164T|SPAG16_ENST00000413312.1_Missense_Mutation_p.N133T|SPAG16_ENST00000447990.1_Missense_Mutation_p.N164T|SPAG16_ENST00000272898.7_Missense_Mutation_p.N164T|SPAG16_ENST00000374309.3_Missense_Mutation_p.N70T|SPAG16_ENST00000414961.2_3'UTR	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	164					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		GAAAATGAGAACAAAAATTTA	0.313																																						ENST00000331683.5	1.000000	8.400000e-01	1.000000	9.300000e-01	0.990000	0.977318	0.990000	1.000000																										0				56						c.(490-492)aAc>aCc		sperm associated antigen 16							76.0	78.0	77.0					2																	214182035		2202	4297	6499	SO:0001583	missense	79582	0	0					g.chr2:214182035A>C	AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.491A>C	chr2.hg19:g.214182035A>C	ENSP00000332592:p.Asn164Thr	0					SPAG16_ENST00000374309.3_Missense_Mutation_p.N70T|SPAG16_ENST00000432529.2_Missense_Mutation_p.N164T|SPAG16_ENST00000447990.1_Missense_Mutation_p.N164T|SPAG16_ENST00000413312.1_Missense_Mutation_p.N133T|SPAG16_ENST00000272898.7_Missense_Mutation_p.N164T|SPAG16_ENST00000414961.2_3'UTR	p.N164T	NM_024532.4	NP_078808.3	0	0	0	2.058839	Q8N0X2	SPG16_HUMAN		5	586	+		Renal(323;0.00461)	Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Missense_Mutation	SNP	ENST00000331683.5	1	1	hg19	c.491A>C	CCDS2396.1	1	.	.	.	.	.	.	.	.	.	.	A	17.68	3.448286	0.63178	.	.	ENSG00000144451	ENST00000331683;ENST00000432529;ENST00000413312;ENST00000272898;ENST00000447990;ENST00000374309	T;T	0.56275	0.53;0.47	5.65	4.48	0.54585	5.65	4.48	0.54585	.	0.190601	0.48767	D	0.000179	T	0.64338	0.2589	M	0.62723	1.935	0.33798	D	0.626297	B;D;P;D;D	0.71674	0.421;0.989;0.668;0.993;0.998	B;P;B;P;D	0.65684	0.202;0.883;0.306;0.823;0.937	T	0.72491	-0.4277	10	0.42905	T	0.14	.	9.0056	0.36109	0.8356:0.0:0.0:0.1644	.	70;133;104;164;164	B4DYB5;Q8N0X2-3;Q4G1A2;Q8N0X2;Q8N0X2-4	.;.;.;SPG16_HUMAN;.	T	164;164;133;164;164;70	ENSP00000332592:N164T;ENSP00000363428:N70T	ENSP00000272898:N164T	N	+	2	0	0	SPAG16	213890280	213890280	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.685000	0.54678	0.941000	0.37499	0.528000	0.53228	AAC	0.667774		TCGA-HZ-A8P1-01A-11D-A377-08	0.313	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	1	0	1	2	2	2	2	0	0	0	0	84	84	84	84	1	1.880000	-20.000000	1	0.670000	NM_024532		0	78	76	0	146	144	1		1	1		0	0	84	0	0	1.000000	1	0	23	0	51	0	78	146
PSME4	23198	broad.mit.edu	37	2	54093911	54093911	+	Silent	SNP	T	T	C			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:54093911T>C	ENST00000404125.1	-	45	5425	c.5370A>G	c.(5368-5370)gcA>gcG	p.A1790A	PSME4_ENST00000421748.2_Silent_p.A934A|PSME4_ENST00000476586.1_5'UTR	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1790					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CATTTAGATGTGCACTGAGAT	0.423																																						ENST00000404125.1	1.000000	8.500000e-01	1.000000	9.700000e-01	0.990000	0.986742	0.990000	1.000000																										0				60						c.(5368-5370)gcA>gcG		proteasome (prosome, macropain) activator subunit 4							120.0	101.0	107.0					2																	54093911		2203	4300	6503	SO:0001819	synonymous_variant	23198	0	0					g.chr2:54093911T>C	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.5370A>G	chr2.hg19:g.54093911T>C		0					PSME4_ENST00000421748.2_Silent_p.A934A|PSME4_ENST00000476586.1_5'UTR	p.A1790A	NM_014614.2	NP_055429.2	0	0	0	2.090094	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)	45	5425	-			Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Silent	SNP	ENST00000404125.1	1	1	hg19	c.5370A>G	CCDS33197.2	1																																																																																								0.670000		TCGA-HZ-A8P1-01A-11D-A377-08	0.423	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	1	0	1	2	2	2	2	0	0	0	0	41	41	41	41	1	1.880000	-20.000000	1	0.670000	XM_040158		0	44	42	0	74	72	1		1	1		0	0	41	0	0	1.000000	1	0	44	0	64	0	44	74
TRPM8	79054	broad.mit.edu	37	2	234875381	234875381	+	Silent	SNP	C	C	T	rs201839664		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:234875381C>T	ENST00000324695.4	+	15	2047	c.2007C>T	c.(2005-2007)atC>atT	p.I669I	TRPM8_ENST00000433712.2_Silent_p.I357I	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	669					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	AGCATTTCATCGCCCAGCCTG	0.527																																						ENST00000324695.4	1.000000	8.600000e-01	1.000000	9.900000e-01	0.990000	0.989303	0.990000	1.000000																										0				66						c.(2005-2007)atC>atT		transient receptor potential cation channel, subfamily M, member 8	Menthol(DB00825)						75.0	66.0	69.0					2																	234875381		2203	4300	6503	SO:0001819	synonymous_variant	79054	2	121358	31				g.chr2:234875381C>T	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.2007C>T	chr2.hg19:g.234875381C>T		0					TRPM8_ENST00000433712.2_Silent_p.I357I	p.I669I	NM_024080.4	NP_076985.4	0	0	0	2.058839	Q7Z2W7	TRPM8_HUMAN		15	2047	+		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)	A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Silent	SNP	ENST00000324695.4	1	1	hg19	c.2007C>T	CCDS33407.1	1																																																																																								0.667774		TCGA-HZ-A8P1-01A-11D-A377-08	0.527	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	1	0	1	2	2	2	2	0	0	0	0	29	29	29	28	1	1.880000	-20.000000	1	0.670000	NM_024080		0	40	40	0	64	64	0		1			0	0	29	0	0	1.000000	0	0	0	0	0	0	40	64
RPSA	3921	broad.mit.edu	37	3	39453425	39453425	+	Silent	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr3:39453425G>A	ENST00000301821.6	+	6	775	c.666G>A	c.(664-666)gtG>gtA	p.V222V	RPSA_ENST00000443003.1_Silent_p.V227V|SNORA62_ENST00000365493.1_RNA|RPSA_ENST00000478027.1_3'UTR	NM_001012321.1|NM_002295.4	NP_001012321.1|NP_002286.2			ribosomal protein SA											endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		AGAAGGCAGTGACCAAGGAGG	0.488																																						ENST00000301821.6	0.260000	9.000000e-02	0.220000	1.300000e-01	0.160000	0.176680	0.160000	0.170000																										0				7						c.(664-666)gtG>gtA		ribosomal protein SA							58.0	62.0	60.0					3																	39453425		2203	4299	6502	SO:0001819	synonymous_variant	3921	0	0					g.chr3:39453425G>A	S37431	CCDS2686.1	3p21.3	2014-09-17	2002-08-29	2005-02-11	ENSG00000168028	ENSG00000168028			6502	protein-coding gene	gene with protein product		150370	"""laminin receptor 1 (67kD, ribosomal protein SA)"""	LAMR1		1534510, 8760291	Standard	NM_001012321		Approved	LRP, 37LRP, p40, SA	uc003cjp.3	P08865	OTTHUMG00000131296	ENST00000301821.6:c.666G>A	chr3.hg19:g.39453425G>A		1					SNORA62_ENST00000365493.1_RNA|RPSA_ENST00000478027.1_3'UTR|RPSA_ENST00000443003.1_Silent_p.V227V	p.V222V	NM_001012321.1|NM_002295.4	NP_001012321.1|NP_002286.2	0	1	1	1.431019				6	775	+				Silent	SNP	ENST00000301821.6	1	1	hg19	c.666G>A	CCDS2686.1	0																																																																																								0.503759		TCGA-HZ-A8P1-01A-11D-A377-08	0.488	RPSA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254064.3	0	0	1	2	9	52	2	1	1	1	1	85	85	85	86	1	1.880000	-19.990670	1	0.670000	NM_002295		0	16	14	0	172	165	0		1	0		1	0	85	0	0	0.936369	9.997641e-01	0	0	0	1691	0	16	172
PBRM1	55193	broad.mit.edu	37	3	52651477	52651477	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr3:52651477C>G	ENST00000296302.7	-	14	1620	c.1619G>C	c.(1618-1620)aGa>aCa	p.R540T	PBRM1_ENST00000409767.1_Missense_Mutation_p.R555T|PBRM1_ENST00000409057.1_Missense_Mutation_p.R540T|PBRM1_ENST00000356770.4_Missense_Mutation_p.R508T|PBRM1_ENST00000409114.3_Missense_Mutation_p.R555T|PBRM1_ENST00000410007.1_Missense_Mutation_p.R540T|PBRM1_ENST00000337303.4_Missense_Mutation_p.R540T|PBRM1_ENST00000394830.3_Missense_Mutation_p.R540T			Q86U86	PB1_HUMAN	polybromo 1	540	Bromo 4. {ECO:0000255|PROSITE- ProRule:PRU00035}.		R -> S (found in a case of clear cell renal carcinoma; somatic mutation). {ECO:0000269|PubMed:21248752}.		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)		ACAAAGTCTTCTGCCTGAACC	0.368			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000296302.7	0.120000	2.000000e-02	0.090000	3.000000e-02	0.060000	0.068740	0.060000	0.060000				Rec	yes			Rec	yes		3	3p21	3p21	55193	Mis, N, F, S, D, O	polybromo 1				E	E			clear cell renal carcinoma, breast		0				335						c.(1618-1620)aGa>aCa		polybromo 1							98.0	98.0	98.0					3																	52651477		2203	4300	6503	SO:0001583	missense	55193	0	0					g.chr3:52651477C>G	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.1619G>C	chr3.hg19:g.52651477C>G	ENSP00000296302:p.Arg540Thr	1					PBRM1_ENST00000409114.3_Missense_Mutation_p.R555T|PBRM1_ENST00000409767.1_Missense_Mutation_p.R555T|PBRM1_ENST00000410007.1_Missense_Mutation_p.R540T|PBRM1_ENST00000409057.1_Missense_Mutation_p.R540T|PBRM1_ENST00000337303.4_Missense_Mutation_p.R540T|PBRM1_ENST00000356770.4_Missense_Mutation_p.R508T|PBRM1_ENST00000394830.3_Missense_Mutation_p.R540T	p.R540T			0	1	1	1.418376	Q86U86	PB1_HUMAN		14	1620	-			A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	0	1	hg19	c.1619G>C		0	.	.	.	.	.	.	.	.	.	.	C	29.0	4.968582	0.92855	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.18810	2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19	5.84	5.84	0.93424	5.84	5.84	0.93424	Bromodomain (4);	0.000000	0.85682	D	0.000000	T	0.62648	0.2445	H	0.95224	3.64	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.998;1.0;1.0;0.999;0.999	D;D;D;D;D;D;D;D;D	0.97110	0.998;0.999;0.99;0.997;0.994;0.999;1.0;0.996;0.996	T	0.73626	-0.3923	10	0.87932	D	0	-3.581	20.139	0.98050	0.0:1.0:0.0:0.0	.	540;540;540;540;555;555;540;508;540	Q86U86-9;Q86U86-6;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	T	508;540;540;540;540;540;555;555;540;499	ENSP00000349213:R508T;ENSP00000378307:R540T;ENSP00000296302:R540T;ENSP00000338302:R540T;ENSP00000386593:R540T;ENSP00000386529:R540T;ENSP00000386643:R555T;ENSP00000386601:R555T;ENSP00000387775:R540T;ENSP00000397662:R499T	ENSP00000296302:R540T	R	-	2	0	0	PBRM1	52626517	52626517	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.764000	0.94973	0.655000	0.94253	AGA	0.503759		TCGA-HZ-A8P1-01A-11D-A377-08	0.368	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	0	0	0	2	2	2	2	0	0	0	0	101	101	101	101	1	1.880000	-8.537223	1	0.670000	NM_018165		0	7	7	0	221	220	0		1	0	1	0	0	101	666	0	0.980783	2.464758e-02	9.998402e-01	0	12	7	617	7	221
BOC	91653	broad.mit.edu	37	3	113005548	113005548	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr3:113005548C>T	ENST00000495514.1	+	20	3888	c.3184C>T	c.(3184-3186)Cca>Tca	p.P1062S	BOC_ENST00000355385.3_Missense_Mutation_p.P1062S|BOC_ENST00000273395.4_Missense_Mutation_p.P1063S			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	1062					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GGGCCTTGTGCCAGTTGAAGA	0.577																																						ENST00000495514.1	0.040000	0	0.030000	0	0.010000	0.020895	0.010000	0.020000																										0				68						c.(3184-3186)Cca>Tca		BOC cell adhesion associated, oncogene regulated							167.0	180.0	176.0					3																	113005548		2203	4300	6503	SO:0001583	missense	91653	0	0					g.chr3:113005548C>T	AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.3184C>T	chr3.hg19:g.113005548C>T	ENSP00000418663:p.Pro1062Ser	1					BOC_ENST00000273395.4_Missense_Mutation_p.P1063S|BOC_ENST00000355385.3_Missense_Mutation_p.P1062S	p.P1062S			0	1	1	1.418376	Q9BWV1	BOC_HUMAN	Epithelial(53;0.227)	20	3888	+			A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	0	1	hg19	c.3184C>T	CCDS2971.1	0	.	.	.	.	.	.	.	.	.	.	C	25.5	4.640112	0.87760	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385;ENST00000473008	T;T;T	0.72615	-0.67;-0.66;-0.67	6.04	6.04	0.98038	6.04	6.04	0.98038	.	0.000000	0.64402	D	0.000001	T	0.78534	0.4298	L	0.32530	0.975	0.52501	D	0.999953	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	T	0.76545	-0.2920	10	0.42905	T	0.14	.	18.7597	0.91845	0.0:1.0:0.0:0.0	.	879;1063;1062	Q9BWV1-2;Q9BWV1-3;Q9BWV1	.;.;BOC_HUMAN	S	1062;1063;1062;38	ENSP00000418663:P1062S;ENSP00000273395:P1063S;ENSP00000347546:P1062S	ENSP00000273395:P1063S	P	+	1	0	0	BOC	114488238	114488238	0.996000	0.38824	0.571000	0.28486	0.991000	0.79684	5.038000	0.64177	2.873000	0.98535	0.561000	0.74099	CCA	0.503759		TCGA-HZ-A8P1-01A-11D-A377-08	0.577	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	0	0	1	2	2	2	2	0	0	0	0	304	304	304	302	1	1.880000	-1.939586	0	0.670000	NM_033254		0	6	6	0	652	639	0		1	0		0	0	304	0	0	0.962867	3.371786e-02	0	0	0	26	0	6	652
NPY1R	4886	broad.mit.edu	37	4	164246771	164246771	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:164246771G>A	ENST00000296533.2	-	3	1370	c.839C>T	c.(838-840)aCc>aTc	p.T280I	NPY1R_ENST00000509586.1_Missense_Mutation_p.T37I	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	280					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose metabolic process (GO:0006006)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|regulation of blood pressure (GO:0008217)|regulation of multicellular organism growth (GO:0040014)|sensory perception of pain (GO:0019233)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GTTAAAGATGGTAAGAGGGAG	0.428																																						ENST00000296533.2	1.000000	9.100000e-01	1.000000	9.900000e-01	0.990000	0.993211	0.990000	1.000000																										0				30						c.(838-840)aCc>aTc		neuropeptide Y receptor Y1							84.0	82.0	83.0					4																	164246771		2203	4300	6503	SO:0001583	missense	4886	0	0					g.chr4:164246771G>A		CCDS34089.1	4q31.3-q32	2012-08-08				ENSG00000164128		"""GPCR / Class A : Neuropeptide receptors : Y"""	7956	protein-coding gene	gene with protein product		162641		NPYR		8095935	Standard	NM_000909		Approved		uc003iqm.2	P25929		ENST00000296533.2:c.839C>T	chr4.hg19:g.164246771G>A	ENSP00000354652:p.Thr280Ile	0					NPY1R_ENST00000509586.1_Missense_Mutation_p.T37I	p.T280I	NM_000909.5	NP_000900.1	1	2	3	2.106168	P25929	NPY1R_HUMAN		3	1370	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	B2R6H5	Missense_Mutation	SNP	ENST00000296533.2	1	1	hg19	c.839C>T	CCDS34089.1	1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.729970	0.30684	.	.	ENSG00000164128	ENST00000296533;ENST00000509586;ENST00000504391	T;T;T	0.54479	0.57;0.57;1.24	5.71	5.71	0.89125	5.71	5.71	0.89125	GPCR, rhodopsin-like superfamily (1);	0.544480	0.19310	N	0.117412	T	0.50309	0.1608	L	0.47016	1.485	0.40849	D	0.983732	P	0.36027	0.533	B	0.40038	0.317	T	0.49495	-0.8934	10	0.39692	T	0.17	.	13.1127	0.59283	0.073:0.0:0.927:0.0	.	280	P25929	NPY1R_HUMAN	I	280;37;37	ENSP00000354652:T280I;ENSP00000427284:T37I;ENSP00000422963:T37I	ENSP00000354652:T280I	T	-	2	0	0	NPY1R	164466221	164466221	1.000000	0.71417	0.997000	0.53966	0.623000	0.37688	2.769000	0.47654	2.702000	0.92279	0.563000	0.77884	ACC	0.671102		TCGA-HZ-A8P1-01A-11D-A377-08	0.428	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364685.1	1	0	1	2	2	2	2	0	0	0	0	111	111	111	111	1	1.880000	-20.000000	1	0.670000			0	82	81	0	141	140	1		1			0	0	111	0	0	1.000000	0	0	0	0	0	0	82	141
WDR17	116966	broad.mit.edu	37	4	177069371	177069371	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:177069371T>A	ENST00000280190.4	+	14	2010	c.1854T>A	c.(1852-1854)aaT>aaA	p.N618K	WDR17_ENST00000508596.1_Missense_Mutation_p.N594K|WDR17_ENST00000507824.2_Missense_Mutation_p.N601K|WDR17_ENST00000393643.2_Missense_Mutation_p.N594K			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	618										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TAATGTGGAATACTGAGATTC	0.413																																						ENST00000280190.4	1.000000	9.400000e-01	1.000000	9.900000e-01	0.990000	0.996286	0.990000	1.000000																										0				92						c.(1852-1854)aaT>aaA		WD repeat domain 17							166.0	161.0	163.0					4																	177069371		2203	4300	6503	SO:0001583	missense	116966	0	0					g.chr4:177069371T>A	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.1854T>A	chr4.hg19:g.177069371T>A	ENSP00000280190:p.Asn618Lys	0					WDR17_ENST00000507824.2_Missense_Mutation_p.N601K|WDR17_ENST00000393643.2_Missense_Mutation_p.N594K|WDR17_ENST00000508596.1_Missense_Mutation_p.N594K	p.N618K			1	2	3	2.106168	Q8IZU2	WDR17_HUMAN		14	2010	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	1	1	hg19	c.1854T>A	CCDS3825.1	1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.936431	0.73442	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.61040	0.14;3.49;0.14	5.77	-5.17	0.02849	5.77	-5.17	0.02849	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.71426	0.3338	M	0.81682	2.555	0.49299	D	0.999775	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.75926	-0.3145	10	0.72032	D	0.01	-32.5565	14.3103	0.66413	0.0:0.474:0.0:0.526	.	594;618	E7EQX0;Q8IZU2	.;WDR17_HUMAN	K	594;594;618;601	ENSP00000422763:N594K;ENSP00000377258:N594K;ENSP00000280190:N618K	ENSP00000280190:N618K	N	+	3	2	2	WDR17	177306365	177306365	0.783000	0.28701	0.914000	0.36105	0.839000	0.47603	-0.154000	0.10130	-0.688000	0.05155	-0.264000	0.10439	AAT	0.671102		TCGA-HZ-A8P1-01A-11D-A377-08	0.413	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2	1	0	1	2	2	2	2	0	0	0	0	176	176	176	175	1	1.880000	-20.000000	1	0.670000			0	190	187	0	341	336	1		1	0		0	0	176	0	0	1.000000	4.516938e-01	0	1	0	3	0	190	341
SORCS2	57537	broad.mit.edu	37	4	7666085	7666085	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:7666085C>T	ENST00000507866.2	+	7	1067	c.958C>T	c.(958-960)Cgg>Tgg	p.R320W	SORCS2_ENST00000329016.9_Missense_Mutation_p.R148W	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	320					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.R170W(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TGTAGATTTTCGGTACGTCAC	0.597																																						ENST00000507866.2	1.000000	5.500000e-01	0.930000	6.600000e-01	0.790000	0.796694	0.790000	1.000000																										2	Substitution - Missense(2)	p.R170W(2)	large_intestine(2)	42						c.(958-960)Cgg>Tgg		sortilin-related VPS10 domain containing receptor 2							43.0	44.0	44.0					4																	7666085		2075	4192	6267	SO:0001583	missense	57537	1	121006	32				g.chr4:7666085C>T	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.958C>T	chr4.hg19:g.7666085C>T	ENSP00000422185:p.Arg320Trp	0					SORCS2_ENST00000329016.9_Missense_Mutation_p.R148W	p.R320W	NM_020777.2	NP_065828.2	1	2	3	2.106168	Q96PQ0	SORC2_HUMAN		7	1067	+			Q9P2L7	Missense_Mutation	SNP	ENST00000507866.2	1	1	hg19	c.958C>T	CCDS47008.1	0	.	.	.	.	.	.	.	.	.	.	C	13.24	2.179406	0.38511	.	.	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.31247	1.5;1.5	4.79	2.02	0.26589	4.79	2.02	0.26589	VPS10 (1);	0.414901	0.22480	N	0.059519	T	0.39200	0.1069	L	0.57536	1.79	0.35199	D	0.774082	D;D	0.76494	0.998;0.999	P;P	0.57152	0.714;0.814	T	0.48031	-0.9070	10	0.59425	D	0.04	.	5.9996	0.19513	0.1529:0.6789:0.0:0.1682	.	148;320	B5MED8;Q96PQ0	.;SORC2_HUMAN	W	320;148	ENSP00000422185:R320W;ENSP00000329124:R148W	ENSP00000329124:R148W	R	+	1	2	2	SORCS2	7716985	7716985	0.998000	0.40836	0.001000	0.08648	0.008000	0.06430	2.969000	0.49232	0.094000	0.17404	-0.142000	0.14014	CGG	0.671102		TCGA-HZ-A8P1-01A-11D-A377-08	0.597	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	1	0	1	2	2	2	2	0	0	0	0	36	36	36	36	1	1.880000	-4.648455	1	0.670000	NM_020777		0	28	28	0	78	77	1		1	0		0	0	36	0	0	1.000000	0	0	0	0	1	0	28	78
TXK	7294	broad.mit.edu	37	4	48069714	48069714	+	Silent	SNP	T	T	C			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:48069714T>C	ENST00000264316.4	-	15	1609	c.1524A>G	c.(1522-1524)gaA>gaG	p.E508E	TXK_ENST00000507351.1_Silent_p.E163E	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	508	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cytokine production (GO:0001816)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|RNA polymerase II regulatory region DNA binding (GO:0001012)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						TAGGGCGGCCTTCAGGTTTCT	0.507																																						ENST00000264316.4	1.000000	9.000000e-01	1.000000	9.800000e-01	0.990000	0.991112	0.990000	1.000000																										0				25						c.(1522-1524)gaA>gaG		TXK tyrosine kinase							87.0	91.0	90.0					4																	48069714		2203	4300	6503	SO:0001819	synonymous_variant	7294	0	0					g.chr4:48069714T>C	L27071	CCDS3480.1	4p12	2013-02-14	2003-04-01		ENSG00000074966	ENSG00000074966	2.7.10.1	"""SH2 domain containing"""	12434	protein-coding gene	gene with protein product		600058	"""PTK4 protein tyrosine kinase 4"""	PTK4		7951233, 7528718	Standard	NM_003328		Approved	TKL, PSCTK5, BTKL, RLK	uc003gxx.4	P42681	OTTHUMG00000102065	ENST00000264316.4:c.1524A>G	chr4.hg19:g.48069714T>C		0					TXK_ENST00000507351.1_Silent_p.E163E	p.E508E	NM_003328.2	NP_003319.2	1	2	3	2.106168	P42681	TXK_HUMAN		15	1609	-			Q14220	Silent	SNP	ENST00000264316.4	1	1	hg19	c.1524A>G	CCDS3480.1	1																																																																																								0.671102		TCGA-HZ-A8P1-01A-11D-A377-08	0.507	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219869.7	1	0	1	2	2	2	2	0	0	0	0	100	100	100	98	1	1.880000	-20.000000	1	0.670000	NM_003328		0	101	100	0	181	177	1		1	0		0	0	100	0	0	1.000000	0	0	0	0	1	0	101	181
SEC31A	22872	broad.mit.edu	37	4	83742207	83742207	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:83742207T>C	ENST00000395310.2	-	26	3648	c.3466A>G	c.(3466-3468)Aaa>Gaa	p.K1156E	SEC31A_ENST00000505472.1_Missense_Mutation_p.K1187E|SEC31A_ENST00000432794.1_Missense_Mutation_p.K1169E|SEC31A_ENST00000505984.1_Missense_Mutation_p.K1102E|SEC31A_ENST00000264405.5_Missense_Mutation_p.K905E|SEC31A_ENST00000326950.5_Missense_Mutation_p.K1117E|SEC31A_ENST00000355196.2_Missense_Mutation_p.K1156E|SEC31A_ENST00000443462.2_Missense_Mutation_p.K1136E|SEC31A_ENST00000500777.2_Missense_Mutation_p.K1003E|SEC31A_ENST00000509142.1_Missense_Mutation_p.K1042E|SEC31A_ENST00000448323.1_Missense_Mutation_p.K1156E|SEC31A_ENST00000513858.1_Missense_Mutation_p.K1003E|SEC31A_ENST00000311785.7_Missense_Mutation_p.K1042E|SEC31A_ENST00000508502.1_Missense_Mutation_p.K1141E|SEC31A_ENST00000348405.4_Missense_Mutation_p.K1117E	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	1156					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TCCCTAAGTTTATCATACAGA	0.338																																						ENST00000395310.2	0.120000	4.000000e-02	0.100000	5.000000e-02	0.070000	0.081779	0.070000	0.080000																									SEC31A/ALK(3)|SEC31A/JAK2(4)	0				1						c.(3466-3468)Aaa>Gaa		SEC31 homolog A (S. cerevisiae)							200.0	210.0	207.0					4																	83742207		2203	4300	6503	SO:0001583	missense	22872	0	0					g.chr4:83742207T>C	AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.3466A>G	chr4.hg19:g.83742207T>C	ENSP00000378721:p.Lys1156Glu	0					SEC31A_ENST00000508502.1_Missense_Mutation_p.K1141E|SEC31A_ENST00000348405.4_Missense_Mutation_p.K1117E|SEC31A_ENST00000311785.7_Missense_Mutation_p.K1042E|SEC31A_ENST00000448323.1_Missense_Mutation_p.K1156E|SEC31A_ENST00000500777.2_Missense_Mutation_p.K1003E|SEC31A_ENST00000505984.1_Missense_Mutation_p.K1102E|SEC31A_ENST00000326950.5_Missense_Mutation_p.K1117E|SEC31A_ENST00000513858.1_Missense_Mutation_p.K1003E|SEC31A_ENST00000505472.1_Missense_Mutation_p.K1187E|SEC31A_ENST00000432794.1_Missense_Mutation_p.K1169E|SEC31A_ENST00000264405.5_Missense_Mutation_p.K905E|SEC31A_ENST00000509142.1_Missense_Mutation_p.K1042E|SEC31A_ENST00000443462.2_Missense_Mutation_p.K1136E|SEC31A_ENST00000355196.2_Missense_Mutation_p.K1156E	p.K1156E	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	1	2	3	2.106168	O94979	SC31A_HUMAN		26	3648	-		Hepatocellular(203;0.114)	B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Missense_Mutation	SNP	ENST00000395310.2	1	1	hg19	c.3466A>G	CCDS3596.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.5|27.5	4.839843|4.839843	0.91117|0.91117	.|.	.|.	ENSG00000138674|ENSG00000138674	ENST00000503937|ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000264405;ENST00000505984	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.40756	.|1.17;1.02;2.26;2.22;1.07;2.15;2.26;1.17;1.07;1.02;1.02;2.22;2.26;3.05;2.14	5.62|5.62	5.62|5.62	0.85841|0.85841	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.68403|0.68403	0.2997|0.2997	M|M	0.85462|0.85462	2.755|2.755	0.36891|0.36891	D|D	0.889912|0.889912	.|D;D;D;D;D;D;D;D;D	.|0.76494	.|0.998;0.997;0.998;0.999;0.998;0.999;0.998;0.984;0.998	.|D;D;D;D;D;D;D;P;D	.|0.85130	.|0.993;0.98;0.994;0.997;0.994;0.996;0.993;0.839;0.997	T|T	0.76567|0.76567	-0.2912|-0.2912	5|10	.|0.48119	.|T	.|0.1	-14.366|-14.366	15.8221|15.8221	0.78662|0.78662	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1136;1102;1003;1117;1042;1141;1156;905;1169	.|B4DIW6;B7ZL00;O94979-6;O94979-4;O94979-3;O94979-2;O94979;O94979-7;O94979-8	.|.;.;.;.;.;.;SC31A_HUMAN;.;.	M|E	318|1117;1003;1156;1136;1042;1169;1156;1117;1042;1187;1003;1141;1156;905;1102	.|ENSP00000337602:K1117E;ENSP00000426886:K1003E;ENSP00000378721:K1156E;ENSP00000408027:K1136E;ENSP00000426569:K1042E;ENSP00000407944:K1169E;ENSP00000400926:K1156E;ENSP00000325087:K1117E;ENSP00000309070:K1042E;ENSP00000421633:K1187E;ENSP00000421464:K1003E;ENSP00000424635:K1141E;ENSP00000347329:K1156E;ENSP00000264405:K905E;ENSP00000424451:K1102E	.|ENSP00000264405:K905E	I|K	-|-	3|1	3|0	3|0	SEC31A|SEC31A	83961231|83961231	83961231|83961231	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.698000|7.698000	0.84413|0.84413	2.139000|2.139000	0.66308|0.66308	0.533000|0.533000	0.62120|0.62120	ATA|AAA	0.671102		TCGA-HZ-A8P1-01A-11D-A377-08	0.338	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	0	0	1	2	2	7	2	1	1	1	0	272	272	272	271	1	1.880000	-15.402250	1	0.670000	NM_016211		0	19	19	0	711	701	0		1	1		1	0	272	0	0	0.999989	8.624196e-01	0	13	0	382	0	19	711
SLC10A6	345274	broad.mit.edu	37	4	87744851	87744851	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:87744851G>A	ENST00000273905.6	-	6	1271	c.1124C>T	c.(1123-1125)tCa>tTa	p.S375L	SLC10A6_ENST00000505535.1_5'Flank	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	375					sodium-dependent organic anion transport (GO:0043251)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)|sodium-dependent organic anion transmembrane transporter activity (GO:0043250)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		CTATTCACATGAAGTGATGTG	0.542																																						ENST00000273905.6	0.960000	5.700000e-01	0.860000	6.500000e-01	0.750000	0.758787	0.750000	0.750000																										0				9						c.(1123-1125)tCa>tTa		solute carrier family 10 (sodium/bile acid cotransporter), member 6							88.0	75.0	79.0					4																	87744851		2203	4300	6503	SO:0001583	missense	345274	0	0					g.chr4:87744851G>A	AJ583502	CCDS3614.1	4q22.1	2013-07-18	2013-07-18		ENSG00000145283	ENSG00000145283		"""Solute carriers"""	30603	protein-coding gene	gene with protein product		613366				15020217, 17491011	Standard	NM_197965		Approved	SOAT	uc003hqd.2	Q3KNW5	OTTHUMG00000130596	ENST00000273905.6:c.1124C>T	chr4.hg19:g.87744851G>A	ENSP00000273905:p.Ser375Leu	0					SLC10A6_ENST00000505535.1_5'Flank	p.S375L	NM_197965.2	NP_932069.1	1	2	3	2.106168	Q3KNW5	SOAT_HUMAN		6	1271	-		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)	Q70EX7	Missense_Mutation	SNP	ENST00000273905.6	1	1	hg19	c.1124C>T	CCDS3614.1	0	.	.	.	.	.	.	.	.	.	.	G	13.50	2.256182	0.39896	.	.	ENSG00000145283	ENST00000273905	T	0.09445	2.98	4.83	3.99	0.46301	4.83	3.99	0.46301	.	.	.	.	.	T	0.10766	0.0263	L	0.44542	1.39	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.16988	-1.0384	9	0.49607	T	0.09	6.3961	8.9158	0.35581	0.0998:0.0:0.9002:0.0	.	375	Q3KNW5	SOAT_HUMAN	L	375	ENSP00000273905:S375L	ENSP00000273905:S375L	S	-	2	0	0	SLC10A6	87963875	87963875	0.814000	0.29104	0.014000	0.15608	0.095000	0.18619	2.377000	0.44300	1.278000	0.44430	-0.236000	0.12185	TCA	0.671102		TCGA-HZ-A8P1-01A-11D-A377-08	0.542	SLC10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253043.2	1	0	1	2	2	2	2	0	0	0	0	80	80	80	80	1	1.880000	-20.000000	1	0.670000	NM_197965		0	45	43	0	134	132	1		1			0	0	80	0	0	1.000000	0	0	0	0	0	0	45	134
PKD2	5311	broad.mit.edu	37	4	88986632	88986632	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:88986632G>A	ENST00000508588.1	+	6	874	c.479G>A	c.(478-480)cGa>cAa	p.R160Q	PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000237596.2_Missense_Mutation_p.R742Q|PKD2_ENST00000502363.1_Missense_Mutation_p.R160Q			Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		GACGAACTTCGACAAGATCTC	0.403																																						ENST00000508588.1	1.000000	6.900000e-01	0.930000	7.600000e-01	0.840000	0.848635	0.840000	0.840000																										0				36						c.(478-480)cGa>cAa		polycystic kidney disease 2 (autosomal dominant)							84.0	80.0	81.0					4																	88986632		2203	4300	6503	SO:0001583	missense	5311	0	0					g.chr4:88986632G>A	U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""EF-hand domain containing"""	9009	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 2"""	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000508588.1:c.479G>A	chr4.hg19:g.88986632G>A	ENSP00000427131:p.Arg160Gln	0					PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000502363.1_Missense_Mutation_p.R160Q|PKD2_ENST00000237596.2_Missense_Mutation_p.R742Q	p.R160Q			1	2	3	2.106168	Q9BZL6	KPCD2_HUMAN		6	874	+		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)	Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000508588.1	1	1	hg19	c.479G>A		0	.	.	.	.	.	.	.	.	.	.	G	23.2	4.381910	0.82792	.	.	ENSG00000118762	ENST00000237596;ENST00000508588;ENST00000502363	T;T;T	0.56103	0.48;0.48;0.48	5.89	5.03	0.67393	5.89	5.03	0.67393	EF-hand-like domain (1);	0.062020	0.64402	D	0.000003	T	0.69584	0.3127	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.70146	-0.4952	10	0.40728	T	0.16	-9.2108	16.2716	0.82624	0.0:0.0:0.8663:0.1336	.	742	Q13563	PKD2_HUMAN	Q	742;160;160	ENSP00000237596:R742Q;ENSP00000427131:R160Q;ENSP00000425289:R160Q	ENSP00000237596:R742Q	R	+	2	0	0	PKD2	89205656	89205656	1.000000	0.71417	0.988000	0.46212	0.998000	0.95712	7.580000	0.82523	1.454000	0.47793	0.655000	0.94253	CGA	0.671102		TCGA-HZ-A8P1-01A-11D-A377-08	0.403	PKD2-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000363253.2	1	0	1	2	2	2	2	0	0	0	0	118	118	118	118	1	1.880000	-6.576953	1	0.670000	NM_000297		0	80	80	0	203	201	1		1	1		0	0	118	0	0	1.000000	9.997635e-01	0	6	0	29	0	80	203
PDLIM5	10611	broad.mit.edu	37	4	95444888	95444888	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:95444888G>A	ENST00000317968.4	+	3	246	c.110G>A	c.(109-111)gGc>gAc	p.G37D	PDLIM5_ENST00000380180.3_Missense_Mutation_p.G37D|PDLIM5_ENST00000538141.1_Missense_Mutation_p.G37D|PDLIM5_ENST00000450793.1_Missense_Mutation_p.G37D|PDLIM5_ENST00000508216.1_Missense_Mutation_p.G37D|PDLIM5_ENST00000514743.1_Missense_Mutation_p.G37D|PDLIM5_ENST00000318007.5_Missense_Mutation_p.G37D|PDLIM5_ENST00000437932.1_Missense_Mutation_p.G37D|PDLIM5_ENST00000542407.1_Intron	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	37	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		AAAGATGGCGGCAAGGCAGCC	0.348																																						ENST00000317968.4	0.200000	3.000000e-02	0.150000	5.000000e-02	0.090000	0.104184	0.090000	0.090000																										0				22						c.(109-111)gGc>gAc		PDZ and LIM domain 5							84.0	80.0	81.0					4																	95444888		2203	4300	6503	SO:0001583	missense	10611	1	121412	28				g.chr4:95444888G>A	AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.110G>A	chr4.hg19:g.95444888G>A	ENSP00000321746:p.Gly37Asp	0					PDLIM5_ENST00000508216.1_Missense_Mutation_p.G37D|PDLIM5_ENST00000538141.1_Missense_Mutation_p.G37D|PDLIM5_ENST00000380180.3_Missense_Mutation_p.G37D|PDLIM5_ENST00000437932.1_Missense_Mutation_p.G37D|PDLIM5_ENST00000542407.1_Intron|PDLIM5_ENST00000514743.1_Missense_Mutation_p.G37D|PDLIM5_ENST00000318007.5_Missense_Mutation_p.G37D|PDLIM5_ENST00000450793.1_Missense_Mutation_p.G37D	p.G37D	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	1	2	3	2.106168	Q96HC4	PDLI5_HUMAN		3	246	+		Hepatocellular(203;0.114)	A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Missense_Mutation	SNP	ENST00000317968.4	0	1	hg19	c.110G>A	CCDS3641.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.9|28.9	4.962750|4.962750	0.92791|0.92791	.|.	.|.	ENSG00000163110|ENSG00000163110	ENST00000513341|ENST00000437932;ENST00000380180;ENST00000318007;ENST00000450793;ENST00000538141;ENST00000317968;ENST00000503974;ENST00000508216;ENST00000514743	.|T;T;T;T;T;T;T;T;T	.|0.53206	.|0.63;0.63;0.63;1.8;1.8;0.63;0.63;0.63;0.63	5.96|5.96	5.96|5.96	0.96718|0.96718	5.96|5.96	5.96|5.96	0.96718|0.96718	.|PDZ/DHR/GLGF (4);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.79902|0.79902	0.4526|0.4526	H|H	0.95470|0.95470	3.675|3.675	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;0.999;1.0;0.991	.|D;D;D;D;D;D	.|0.97110	.|0.996;1.0;0.998;0.991;0.999;0.982	D|D	0.84745|0.84745	0.0753|0.0753	5|10	.|0.72032	.|D	.|0.01	.|.	20.0147|20.0147	0.97475|0.97475	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|37;37;37;37;37;37	.|E9PBF5;D6RB78;Q96HC4;Q96HC4-4;Q96HC4-2;Q96HC4-3	.|.;.;PDLI5_HUMAN;.;.;.	T|D	5|37	.|ENSP00000398469:G37D;ENSP00000369527:G37D;ENSP00000322021:G37D;ENSP00000401579:G37D;ENSP00000439795:G37D;ENSP00000321746:G37D;ENSP00000424297:G37D;ENSP00000426804:G37D;ENSP00000424360:G37D	.|ENSP00000321746:G37D	A|G	+|+	1|2	0|0	0|0	PDLIM5|PDLIM5	95663911|95663911	95663911|95663911	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.982000|0.982000	0.71751|0.71751	9.143000|9.143000	0.94623|0.94623	2.823000|2.823000	0.97156|0.97156	0.650000|0.650000	0.86243|0.86243	GCA|GGC	0.671102		TCGA-HZ-A8P1-01A-11D-A377-08	0.348	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253586.1	0	0	1	2	9	6	2	1	1	1	1	85	85	85	84	1	1.880000	-3.532681	1	0.670000			0	5	5	0	165	165	0		0	0		1	0	85	0	0	0.203792	1.476399e-01	0	0	0	93	0	5	165
METAP1	23173	broad.mit.edu	37	4	99982458	99982458	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:99982458C>T	ENST00000296411.6	+	11	1285	c.1151C>T	c.(1150-1152)tCt>tTt	p.S384F	METAP1_ENST00000544031.1_Missense_Mutation_p.S334F	NM_015143.2	NP_055958.2	P53582	MAP11_HUMAN	methionyl aminopeptidase 1	384					N-terminal protein amino acid modification (GO:0031365)|peptidyl-methionine modification (GO:0018206)|phototransduction, visible light (GO:0007603)|platelet aggregation (GO:0070527)|protein initiator methionine removal (GO:0070084)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of translation (GO:0006417)|rhodopsin mediated signaling pathway (GO:0016056)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic ribosome (GO:0022626)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metalloaminopeptidase activity (GO:0070006)|metalloexopeptidase activity (GO:0008235)			endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)		CACTTCATGTCTCAATTTTAA	0.458																																						ENST00000296411.6	0.610000	3.400000e-01	0.540000	4.000000e-01	0.460000	0.476124	0.460000	0.470000																										0				17						c.(1150-1152)tCt>tTt		methionyl aminopeptidase 1							108.0	111.0	110.0					4																	99982458		1913	4128	6041	SO:0001583	missense	23173	0	0					g.chr4:99982458C>T	D42084	CCDS47110.1	4q23	2010-08-20			ENSG00000164024	ENSG00000164024	3.4.11.18		15789	protein-coding gene	gene with protein product	"""Peptidase M"""	610151				7788527, 12144506	Standard	NM_015143		Approved	KIAA0094, MetAP1A, MAP1A	uc003huf.4	P53582	OTTHUMG00000161231	ENST00000296411.6:c.1151C>T	chr4.hg19:g.99982458C>T	ENSP00000296411:p.Ser384Phe	0					METAP1_ENST00000544031.1_Missense_Mutation_p.S334F	p.S384F	NM_015143.2	NP_055958.2	1	2	3	2.106168	P53582	MAP11_HUMAN		11	1285	+			B4E2E6	Missense_Mutation	SNP	ENST00000296411.6	1	1	hg19	c.1151C>T	CCDS47110.1	0	.	.	.	.	.	.	.	.	.	.	C	13.34	2.208029	0.39003	.	.	ENSG00000164024	ENST00000296411;ENST00000544031;ENST00000510133;ENST00000514051	.	.	.	4.96	4.96	0.65561	4.96	4.96	0.65561	.	0.167404	0.53938	D	0.000059	T	0.55609	0.1931	L	0.46157	1.445	0.58432	D	0.999998	B	0.28378	0.209	B	0.22880	0.042	T	0.52335	-0.8589	8	.	.	.	-12.7309	18.3944	0.90493	0.0:1.0:0.0:0.0	.	384	P53582	AMPM1_HUMAN	F	384;334;168;114	.	.	S	+	2	0	0	METAP1	100201481	100201481	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	3.563000	0.53784	2.561000	0.86390	0.655000	0.94253	TCT	0.671102		TCGA-HZ-A8P1-01A-11D-A377-08	0.458	METAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364237.1	1	0	1	2	2	2	2	0	0	0	0	106	106	106	106	1	1.880000	-19.982440	1	0.670000	NM_015143		0	42	42	0	226	223	1		1	1		0	0	106	0	0	1.000000	9.999338e-01	0	28	0	53	0	42	226
TLR3	7098	broad.mit.edu	37	4	187005297	187005297	+	Silent	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:187005297C>T	ENST00000296795.3	+	4	2561	c.2457C>T	c.(2455-2457)caC>caT	p.H819H	TLR3_ENST00000504367.1_Silent_p.H542H	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	819	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TTATAACACACCATCTATTAA	0.299																																						ENST00000296795.3	1.000000	8.400000e-01	1.000000	9.300000e-01	0.990000	0.976064	0.990000	1.000000																										0				29						c.(2455-2457)caC>caT		toll-like receptor 3							41.0	46.0	44.0					4																	187005297		2193	4295	6488	SO:0001819	synonymous_variant	7098	0	0					g.chr4:187005297C>T	U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.2457C>T	chr4.hg19:g.187005297C>T		0					TLR3_ENST00000504367.1_Silent_p.H542H	p.H819H	NM_003265.2	NP_003256.1	1	2	3	2.106168	O15455	TLR3_HUMAN		4	2561	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Silent	SNP	ENST00000296795.3	1	1	hg19	c.2457C>T	CCDS3846.1	1																																																																																								0.671102		TCGA-HZ-A8P1-01A-11D-A377-08	0.299	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4	1	0	1	2	2	2	2	0	0	0	0	99	99	99	99	1	1.880000	-20.000000	1	0.670000			0	77	74	0	147	145	0		1	0		0	0	99	0	0	1.000000	9.492974e-01	0	0	0	12	0	77	147
NAIP	4671	broad.mit.edu	37	5	70308630	70308630	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr5:70308630A>G	ENST00000517649.1	-	4	403	c.113T>C	c.(112-114)cTa>cCa	p.L38P	NAIP_ENST00000503719.2_Intron|NAIP_ENST00000194097.4_Missense_Mutation_p.L38P|NAIP_ENST00000508426.2_Missense_Mutation_p.L38P|NAIP_ENST00000523981.1_Intron	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	38					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|metal ion binding (GO:0046872)			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		CTCTTCTTCTAGTTCCTTTGC	0.463																																						ENST00000517649.1	1.000000	8.700000e-01	1.000000	9.300000e-01	0.990000	0.976720	0.990000	1.000000																										0				1						c.(112-114)cTa>cCa		NLR family, apoptosis inhibitory protein							148.0	135.0	139.0					5																	70308630		2202	4296	6498	SO:0001583	missense	4671	0	0					g.chr5:70308630A>G	U19251	CCDS4009.1, CCDS43327.1	5q13.2	2010-06-16	2006-12-08	2006-12-08	ENSG00000249437	ENSG00000249437		"""Baculoviral IAP repeat containing"", ""Nucleotide-binding domain and leucine rich repeat containing"""	7634	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1"", ""NLR family, BIR domain containing 1"""	600355	"""baculoviral IAP repeat-containing 1"""	BIRC1		7813013	Standard	NM_022892		Approved	NLRB1	uc003jyj.1	Q13075	OTTHUMG00000163318	ENST00000517649.1:c.113T>C	chr5.hg19:g.70308630A>G	ENSP00000428657:p.Leu38Pro	0					NAIP_ENST00000194097.4_Missense_Mutation_p.L38P|NAIP_ENST00000523981.1_Intron|NAIP_ENST00000508426.2_Missense_Mutation_p.L38P|NAIP_ENST00000503719.2_Intron	p.L38P	NM_004536.2	NP_004527.2	1	2	3	2.098526	Q13075	BIRC1_HUMAN		4	403	-		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)	B9EG72|E9PHD1|O75857|Q13730|Q59GI6|Q8TDZ4|Q99796	Missense_Mutation	SNP	ENST00000517649.1	1	1	hg19	c.113T>C	CCDS4009.1	1	.	.	.	.	.	.	.	.	.	.	a	7.483	0.648990	0.14516	.	.	ENSG00000249437	ENST00000517649;ENST00000194097;ENST00000508426	T;T;T	0.75154	-0.91;-0.91;-0.91	3.25	0.611	0.17586	3.25	0.611	0.17586	.	2.100700	0.03038	U	0.152947	T	0.55049	0.1896	N	0.08118	0	0.09310	N	1	B;B	0.17465	0.015;0.022	B;B	0.14023	0.003;0.01	T	0.47824	-0.9087	10	0.56958	D	0.05	.	4.4374	0.11557	0.6054:0.1923:0.0:0.2023	.	38;38	E7EQW0;Q13075	.;BIRC1_HUMAN	P	38	ENSP00000428657:L38P;ENSP00000443944:L38P;ENSP00000429545:L38P	ENSP00000443944:L38P	L	-	2	0	0	NAIP	70344386	70344386	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.847000	0.27696	0.117000	0.18138	0.352000	0.21897	CTA	0.671102		TCGA-HZ-A8P1-01A-11D-A377-08	0.463	NAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372649.6	1	0	1	2	2	2	2	0	0	0	0	176	176	176	176	1	1.880000	-20.000000	1	0.670000	NM_004536		0	174	171	0	346	339	1		1	0		0	0	176	0	0	1.000000	0	0	0	0	1	0	174	346
SLC36A2	153201	broad.mit.edu	37	5	150715058	150715058	+	Silent	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr5:150715058C>T	ENST00000335244.4	-	6	705	c.576G>A	c.(574-576)acG>acA	p.T192T	SLC36A2_ENST00000521967.1_Silent_p.T192T	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	192					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	TCAGAATCACCGTCTCATTGG	0.522																																						ENST00000335244.4	1.000000	7.200000e-01	0.970000	8.000000e-01	0.880000	0.885189	0.880000	1.000000																										0				33						c.(574-576)acG>acA		solute carrier family 36 (proton/amino acid symporter), member 2	Cycloserine(DB00260)						255.0	236.0	243.0					5																	150715058		2203	4300	6503	SO:0001819	synonymous_variant	153201	2	121412	39				g.chr5:150715058C>T	AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"""Solute carriers"""	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.576G>A	chr5.hg19:g.150715058C>T		0					SLC36A2_ENST00000521967.1_Silent_p.T192T	p.T192T	NM_181776.2	NP_861441.2	1	2	3	2.098526	Q495M3	S36A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)	6	705	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Silent	SNP	ENST00000335244.4	1	1	hg19	c.576G>A	CCDS4315.1	1																																																																																								0.671102		TCGA-HZ-A8P1-01A-11D-A377-08	0.522	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252437.1	0	0	1	2	11	2	2	1	1	1	1	106	106	106	106	1	1.880000	-6.656074	1	0.670000			0	84	83	0	200	190	1		1			1	0	106	0	0	1.000000	0	0	0	0	0	0	84	200
EYS	346007	broad.mit.edu	37	6	66063349	66063349	+	Splice_Site	SNP	A	A	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr6:66063349A>T	ENST00000370621.3	-	9	1986		c.e9+1		EYS_ENST00000370618.3_Splice_Site|EYS_ENST00000370616.2_Splice_Site|EYS_ENST00000393380.2_Splice_Site|EYS_ENST00000342421.5_Splice_Site|EYS_ENST00000503581.1_Splice_Site			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)						detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TAAATTTGTTACCTGCAAATC	0.333																																						ENST00000370621.3	1.000000	9.400000e-01	1.000000	9.900000e-01	0.990000	0.997017	0.990000	1.000000																										0				69						c.e9+1		eyes shut homolog (Drosophila)							65.0	63.0	64.0					6																	66063349		2203	4300	6503	SO:0001630	splice_region_variant	346007	0	0					g.chr6:66063349A>T		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1459+1T>A	chr6.hg19:g.66063349A>T		0					EYS_ENST00000370618.3_Splice_Site|EYS_ENST00000370616.2_Splice_Site|EYS_ENST00000393380.2_Splice_Site|EYS_ENST00000503581.1_Splice_Site|EYS_ENST00000342421.5_Splice_Site				0	0	0	2.061588	Q5T1H1	EYS_HUMAN		9	1986	-			A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Splice_Site	SNP	ENST00000370621.3	1	1	hg19			1	.	.	.	.	.	.	.	.	.	.	A	8.880	0.951312	0.18431	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	.	.	.	4.0	4.0	0.46444	4.0	4.0	0.46444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2851	0.43562	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	EYS	66120070	66120070	0.986000	0.35501	0.153000	0.22517	0.081000	0.17604	2.533000	0.45667	1.441000	0.47550	0.482000	0.46254	.	0.667774		TCGA-HZ-A8P1-01A-11D-A377-08	0.333	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	1	0	1	2	2	2	2	0	0	0	0	87	87	87	87	1	1.880000	-20.000000	1	0.670000	XM_294050	Intron	0	93	93	0	151	148	1		1			0	0	87	0	0	1.000000	0	0	0	0	0	0	93	151
BAI3	577	broad.mit.edu	37	6	69349053	69349053	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr6:69349053C>A	ENST00000370598.1	+	3	1307	c.486C>A	c.(484-486)agC>agA	p.S162R		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	162					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ACAAGGTCAGCCCAAGCCAGT	0.368																																						ENST00000370598.1	0.090000	0	0.060000	1.000000e-02	0.030000	0.044621	0.030000	0.040000																										0				210						c.(484-486)agC>agA		brain-specific angiogenesis inhibitor 3							74.0	75.0	75.0					6																	69349053		2203	4300	6503	SO:0001583	missense	577	0	0					g.chr6:69349053C>A	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.486C>A	chr6.hg19:g.69349053C>A	ENSP00000359630:p.Ser162Arg	0						p.S162R	NM_001704.2	NP_001695	0	0	0	2.061588	O60242	BAI3_HUMAN		3	1307	+		all_lung(197;0.212)	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	0	1	hg19	c.486C>A	CCDS4968.1	0	.	.	.	.	.	.	.	.	.	.	C	14.51	2.555672	0.45487	.	.	ENSG00000135298	ENST00000370598	T	0.21361	2.01	5.23	5.23	0.72850	5.23	5.23	0.72850	.	0.059956	0.64402	D	0.000005	T	0.11750	0.0286	N	0.22421	0.69	0.80722	D	1	P	0.44578	0.838	B	0.41860	0.368	T	0.03534	-1.1027	10	0.87932	D	0	.	19.1611	0.93533	0.0:1.0:0.0:0.0	.	162	O60242	BAI3_HUMAN	R	162	ENSP00000359630:S162R	ENSP00000359630:S162R	S	+	3	2	2	BAI3	69405774	69405774	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.445000	0.80570	2.610000	0.88304	0.655000	0.94253	AGC	0.667774		TCGA-HZ-A8P1-01A-11D-A377-08	0.368	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1	0	0	1	2	2	2	2	0	0	0	0	139	139	139	139	1	1.880000	-3.022603	1	0.670000			0	5	5	0	389	381	0		1			0	0	139	0	0	0.934504	0	0	0	0	0	0	5	389
KCNQ5	56479	broad.mit.edu	37	6	73830223	73830223	+	Silent	SNP	C	C	T	rs144427126		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr6:73830223C>T	ENST00000370398.1	+	8	1252	c.1143C>T	c.(1141-1143)taC>taT	p.Y381Y	KCNQ5_ENST00000342056.2_Silent_p.Y381Y|KCNQ5_ENST00000403813.2_Silent_p.Y381Y|KCNQ5_ENST00000414165.2_Silent_p.Y381Y|KCNQ5_ENST00000370392.1_Silent_p.Y381Y|KCNQ5_ENST00000355194.4_Silent_p.Y381Y|KCNQ5_ENST00000402622.2_Silent_p.Y381Y|KCNQ5_ENST00000355635.3_Silent_p.Y381Y	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	381					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	GGCGTAGTTACGCAGCTGATG	0.428																																					GBM(142;1375 1859 14391 23261 44706)	ENST00000370398.1	0.330000	1.200000e-01	0.280000	1.600000e-01	0.210000	0.222938	0.210000	0.210000																										0				57						c.(1141-1143)taC>taT		potassium voltage-gated channel, KQT-like subfamily, member 5	Ezogabine(DB04953)	T	,,,,	0,4406		0,0,2203	91.0	73.0	79.0		1143,1143,1143,1143,1143	-2.7	1.0	6	dbSNP_134	79	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	KCNQ5	NM_001160130.1,NM_001160132.1,NM_001160133.1,NM_001160134.1,NM_019842.3	,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,	381/924,381/943,381/952,381/823,381/933	73830223	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	56479	9	121406	40				g.chr6:73830223C>T	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.1143C>T	chr6.hg19:g.73830223C>T		0					KCNQ5_ENST00000355635.3_Silent_p.Y381Y|KCNQ5_ENST00000355194.4_Silent_p.Y381Y|KCNQ5_ENST00000414165.2_Silent_p.Y381Y|KCNQ5_ENST00000370392.1_Silent_p.Y381Y|KCNQ5_ENST00000342056.2_Silent_p.Y381Y|KCNQ5_ENST00000403813.2_Silent_p.Y381Y|KCNQ5_ENST00000402622.2_Silent_p.Y381Y	p.Y381Y	NM_019842.3	NP_062816.2	0	0	0	2.061588	Q9NR82	KCNQ5_HUMAN		8	1252	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Silent	SNP	ENST00000370398.1	1	1	hg19	c.1143C>T	CCDS4976.1	0																																																																																								0.667774		TCGA-HZ-A8P1-01A-11D-A377-08	0.428	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	1	0	1	2	2	2	2	0	0	0	0	79	79	79	79	1	1.880000	-18.202100	1	0.670000	NM_019842		0	14	14	0	183	180	0		1			0	0	79	0	0	0.999764	0	0	0	0	0	0	14	183
HDAC9	9734	broad.mit.edu	37	7	18625006	18625006	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr7:18625006G>A	ENST00000432645.2	+	2	125	c.125G>A	c.(124-126)cGt>cAt	p.R42H	HDAC9_ENST00000406451.4_Missense_Mutation_p.R42H|HDAC9_ENST00000417496.2_Missense_Mutation_p.R84H|HDAC9_ENST00000524023.1_Missense_Mutation_p.R11H|HDAC9_ENST00000428307.2_Missense_Mutation_p.R42H|HDAC9_ENST00000401921.1_Missense_Mutation_p.R42H|HDAC9_ENST00000406072.1_Missense_Mutation_p.R70H|HDAC9_ENST00000476135.1_3'UTR|HDAC9_ENST00000405010.3_Missense_Mutation_p.R42H|HDAC9_ENST00000441542.2_Missense_Mutation_p.R42H|HDAC9_ENST00000456174.2_Missense_Mutation_p.R11H	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	42					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CCTGTTGTCCGTGAGAAGCAA	0.493																																						ENST00000432645.2	0.450000	2.400000e-01	0.400000	2.900000e-01	0.340000	0.347768	0.340000	0.340000																										0				82						c.(124-126)cGt>cAt		histone deacetylase 9	Valproic Acid(DB00313)						94.0	94.0	94.0					7																	18625006		1970	4179	6149	SO:0001583	missense	9734	2	120890	34				g.chr7:18625006G>A	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.125G>A	chr7.hg19:g.18625006G>A	ENSP00000410337:p.Arg42His	0					HDAC9_ENST00000406072.1_Missense_Mutation_p.R70H|HDAC9_ENST00000524023.1_Missense_Mutation_p.R11H|HDAC9_ENST00000441542.2_Missense_Mutation_p.R42H|HDAC9_ENST00000456174.2_Missense_Mutation_p.R11H|HDAC9_ENST00000405010.3_Missense_Mutation_p.R42H|HDAC9_ENST00000401921.1_Missense_Mutation_p.R42H|HDAC9_ENST00000476135.1_3'UTR|HDAC9_ENST00000406451.4_Missense_Mutation_p.R42H|HDAC9_ENST00000428307.2_Missense_Mutation_p.R42H|HDAC9_ENST00000417496.2_Missense_Mutation_p.R84H	p.R42H	NM_058176.2	NP_478056.1	0	0	0	2.082795	Q9UKV0	HDAC9_HUMAN		2	125	+	all_lung(11;0.187)		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	1	1	hg19	c.125G>A	CCDS47555.1	0	.	.	.	.	.	.	.	.	.	.	G	36	5.684136	0.96774	.	.	ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000413509;ENST00000413380;ENST00000430454;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000406072;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000441986;ENST00000456174;ENST00000524023;ENST00000341009	T;T;T;T;T;T;T;T;T;T;T;T;T	0.60424	0.71;0.74;0.76;0.76;0.23;0.77;0.73;0.19;0.23;0.21;0.72;0.78;0.81	5.93	5.93	0.95920	5.93	5.93	0.95920	Histone deacetylase, glutamine rich N-terminal domain (1);	0.324775	0.26840	N	0.022229	T	0.71945	0.3400	L	0.42245	1.32	0.58432	D	0.999996	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.998;0.998;1.0;0.999;1.0;0.998;1.0;1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.87578	0.928;0.928;0.953;0.952;0.973;0.928;0.953;0.953;0.987;0.998;0.953;0.917;0.973	T	0.69942	-0.5008	10	0.51188	T	0.08	-10.7869	20.3368	0.98748	0.0:0.0:1.0:0.0	.	11;11;42;70;84;42;42;42;42;11;42;42;61	E7EX34;C9JS87;Q9UKV0-4;B5MCF1;B7Z917;Q68D71;Q9UKV0-6;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3;Q8N879	.;.;.;.;.;.;.;.;HDAC9_HUMAN;.;.;.;.	H	84;87;42;42;11;42;42;42;70;42;42;42;11;11;11;42	ENSP00000401669:R84H;ENSP00000412497:R42H;ENSP00000392564:R42H;ENSP00000384382:R42H;ENSP00000384657:R42H;ENSP00000395655:R42H;ENSP00000384017:R70H;ENSP00000383912:R42H;ENSP00000410337:R42H;ENSP00000408617:R42H;ENSP00000404763:R11H;ENSP00000388568:R11H;ENSP00000430036:R11H	ENSP00000262069:R87H	R	+	2	0	0	HDAC9	18591531	18591531	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.805000	0.96524	0.655000	0.94253	CGT	0.670000		TCGA-HZ-A8P1-01A-11D-A377-08	0.493	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1	1	0	1	2	2	2	2	0	0	0	0	177	177	177	177	1	1.880000	-3.318798	1	0.670000			0	41	41	0	317	313	1		1			0	0	177	0	0	1.000000	0	0	0	0	0	0	41	317
POMZP3	22932	broad.mit.edu	37	7	76254991	76254991	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr7:76254991C>G	ENST00000310842.4	-	3	759	c.75G>C	c.(73-75)caG>caC	p.Q25H	UPK3B_ENST00000419923.2_Intron|UPK3B_ENST00000443097.2_Intron|AC004980.7_ENST00000418663.1_RNA|POMZP3_ENST00000275569.4_Missense_Mutation_p.Q25H	NM_012230.3	NP_036362.3	Q6PJE2	POZP3_HUMAN	POM121 and ZP3 fusion	25										kidney(3)|lung(2)	5		Myeloproliferative disorder(862;0.204)				AGCTGATTATCTGCTCTGGTC	0.418																																						ENST00000310842.4	0.110000	2.000000e-02	0.090000	4.000000e-02	0.060000	0.069218	0.060000	0.060000																										0				5						c.(73-75)caG>caC		POM121 and ZP3 fusion							201.0	186.0	191.0					7																	76254991		2203	4300	6503	SO:0001583	missense	22932	1	121412	29				g.chr7:76254991C>G	U10099	CCDS5590.1, CCDS43606.1	7q11.2	2010-06-24	2010-06-24		ENSG00000146707	ENSG00000146707			9203	protein-coding gene	gene with protein product	"""POM-ZP3 fusion protein"", ""POM121/ZP3 fusion protein"""	600587	"""POM (POM121 rat homolog) and ZP3 fusion"", ""POM (POM121 homolog, rat) and ZP3 fusion"""			7789967	Standard	NM_012230		Approved	POM-ZP3, POM121	uc003uft.3	Q6PJE2	OTTHUMG00000023514	ENST00000310842.4:c.75G>C	chr7.hg19:g.76254991C>G	ENSP00000309233:p.Gln25His	0					AC004980.7_ENST00000418663.1_RNA|POMZP3_ENST00000275569.4_Missense_Mutation_p.Q25H|UPK3B_ENST00000443097.2_Intron|UPK3B_ENST00000419923.2_Intron	p.Q25H	NM_012230.3	NP_036362.3	0	0	0	2.082586	Q6PJE2	POZP3_HUMAN		3	759	-		Myeloproliferative disorder(862;0.204)	F6STJ3|Q12903|Q9BWB4	Missense_Mutation	SNP	ENST00000310842.4	0	1	hg19	c.75G>C	CCDS43606.1	0	.	.	.	.	.	.	.	.	.	.	c	11.27	1.590335	0.28357	.	.	ENSG00000146707	ENST00000275569;ENST00000310842;ENST00000454397	T;T	0.32515	1.88;1.45	0.694	0.694	0.18062	0.694	0.694	0.18062	.	0.120055	0.56097	U	0.000036	T	0.22360	0.0539	L	0.52266	1.64	0.09310	N	1	P	0.50156	0.932	B	0.40782	0.34	T	0.16748	-1.0392	10	0.66056	D	0.02	.	4.8171	0.13372	0.0:1.0:0.0:0.0	.	25	Q6PJE2	POZP3_HUMAN	H	25	ENSP00000309233:Q25H;ENSP00000405319:Q25H	ENSP00000275569:Q25H	Q	-	3	2	2	POMZP3	76092927	76092927	0.643000	0.27269	0.070000	0.20053	0.785000	0.44390	0.650000	0.24858	0.690000	0.31570	0.472000	0.43445	CAG	0.670000		TCGA-HZ-A8P1-01A-11D-A377-08	0.418	POMZP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341775.1	0	0	1	2	2	2	2	0	0	0	0	258	258	258	259	1	1.880000	-3.029960	1	0.670000	NM_012230		0	13	12	0	588	580	0		1	1		0	0	258	0	0	0.999490	3.135264e-01	0	2	0	47	0	13	588
ABCB4	5244	broad.mit.edu	37	7	87060829	87060829	+	Missense_Mutation	SNP	C	C	T	rs144398632		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr7:87060829C>T	ENST00000265723.4	-	15	1895	c.1784G>A	c.(1783-1785)cGa>cAa	p.R595Q	ABCB4_ENST00000545634.1_Missense_Mutation_p.R595Q|ABCB4_ENST00000359206.3_Missense_Mutation_p.R595Q|ABCB4_ENST00000358400.3_Missense_Mutation_p.R595Q|ABCB4_ENST00000453593.1_Missense_Mutation_p.R595Q	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	595	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	ATCTGCATTTCGGACCGTAGA	0.488																																						ENST00000265723.4	0.080000	0	0.060000	1.000000e-02	0.030000	0.041205	0.030000	0.040000																										0				77						c.(1783-1785)cGa>cAa		ATP-binding cassette, sub-family B (MDR/TAP), member 4	Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	C	GLN/ARG,GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	201.0	174.0	183.0		1784,1784,1784	5.5	1.0	7	dbSNP_134	183	0,8600		0,0,4300	no	missense,missense,missense	ABCB4	NM_000443.3,NM_018849.2,NM_018850.2	43,43,43	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging,probably-damaging	595/1280,595/1287,595/1233	87060829	2,13004	2203	4300	6503	SO:0001583	missense	5244	5	121412	42				g.chr7:87060829C>T	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.1784G>A	chr7.hg19:g.87060829C>T	ENSP00000265723:p.Arg595Gln	0					ABCB4_ENST00000358400.3_Missense_Mutation_p.R595Q|ABCB4_ENST00000453593.1_Missense_Mutation_p.R595Q|ABCB4_ENST00000545634.1_Missense_Mutation_p.R595Q|ABCB4_ENST00000359206.3_Missense_Mutation_p.R595Q	p.R595Q	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	0	0	0	2.082586	P21439	MDR3_HUMAN		15	1895	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	0	1	hg19	c.1784G>A	CCDS5606.1	0	.	.	.	.	.	.	.	.	.	.	C	24.7	4.565430	0.86439	4.54E-4	0.0	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	T;T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77;-0.77	5.49	5.49	0.81192	5.49	5.49	0.81192	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	T	0.70745	0.3259	N	0.19112	0.55	0.80722	D	1	P;P;P	0.41978	0.69;0.767;0.656	B;P;B	0.46796	0.083;0.527;0.327	T	0.73962	-0.3817	10	0.56958	D	0.05	-8.993	19.365	0.94458	0.0:1.0:0.0:0.0	.	595;595;595	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	Q	595	ENSP00000352135:R595Q;ENSP00000351172:R595Q;ENSP00000265723:R595Q;ENSP00000392983:R595Q;ENSP00000437465:R595Q	ENSP00000265723:R595Q	R	-	2	0	0	ABCB4	86898765	86898765	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	3.280000	0.51677	2.580000	0.87095	0.591000	0.81541	CGA	0.670000		TCGA-HZ-A8P1-01A-11D-A377-08	0.488	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	0	0	1	2	2	2	2	0	0	0	0	118	118	118	118	1	1.880000	-2.579223	1	0.670000	NM_000443		0	5	6	0	423	421	0		1			0	0	118	0	0	0.937502	0	0	0	0	0	0	5	423
LRRC4	64101	broad.mit.edu	37	7	127668984	127668984	+	Silent	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr7:127668984C>T	ENST00000249363.3	-	2	1967	c.1710G>A	c.(1708-1710)caG>caA	p.Q570Q	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	570					postsynaptic density protein 95 clustering (GO:0097119)|regulation of synapse organization (GO:0050807)|synapse organization (GO:0050808)	cell junction (GO:0030054)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		CTTCGTCCACCTGGATTATCT	0.562																																						ENST00000249363.3	1.000000	9.600000e-01	1.000000	9.900000e-01	0.990000	0.997672	0.990000	1.000000																										0				26						c.(1708-1710)caG>caA		leucine rich repeat containing 4							87.0	69.0	75.0					7																	127668984		2203	4300	6503	SO:0001819	synonymous_variant	64101	0	0					g.chr7:127668984C>T	AF196976	CCDS5799.1	7q31	2013-01-14	2003-11-19		ENSG00000128594	ENSG00000128594		"""Immunoglobulin superfamily / I-set domain containing"""	15586	protein-coding gene	gene with protein product		610486	"""leucine-rich repeat-containing 4"""			12969517	Standard	NM_022143		Approved	NAG14	uc003vmk.3	Q9HBW1	OTTHUMG00000157563	ENST00000249363.3:c.1710G>A	chr7.hg19:g.127668984C>T		0					SND1_ENST00000354725.3_Intron	p.Q570Q	NM_022143.4	NP_071426.1	0	0	0	2.082586	Q9HBW1	LRRC4_HUMAN		2	1967	-			A4D0Y9|Q14DU9|Q6ZMI8|Q96A85	Silent	SNP	ENST00000249363.3	1	1	hg19	c.1710G>A	CCDS5799.1	1																																																																																								0.670000		TCGA-HZ-A8P1-01A-11D-A377-08	0.562	LRRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349170.1	1	0	1	2	2	2	2	0	0	0	0	54	54	54	54	1	1.880000	-20.000000	1	0.670000	NM_022143		0	37	37	0	50	49	1		1			0	0	54	0	0	1.000000	0	0	0	0	0	0	37	50
MYOM2	9172	broad.mit.edu	37	8	2092682	2092682	+	Missense_Mutation	SNP	C	C	T	rs367862562		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr8:2092682C>T	ENST00000262113.4	+	37	4316	c.4175C>T	c.(4174-4176)tCg>tTg	p.S1392L	MYOM2_ENST00000520298.1_3'UTR|MYOM2_ENST00000523438.1_Missense_Mutation_p.S817L	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1392	Ig-like C2-type 5.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GAGCACTTCTCGGTGAAGGTG	0.527																																						ENST00000262113.4	1.000000	8.300000e-01	1.000000	8.900000e-01	0.950000	0.947887	0.950000	1.000000																										0				104						c.(4174-4176)tCg>tTg		myomesin 2		C	LEU/SER	4,4402	8.1+/-20.4	0,4,2199	118.0	100.0	106.0		4175	-3.6	0.0	8		106	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYOM2	NM_003970.2	145	0,5,6498	TT,TC,CC		0.0116,0.0908,0.0384	benign	1392/1466	2092682	5,13001	2203	4300	6503	SO:0001583	missense	9172	8	121412	45				g.chr8:2092682C>T		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.4175C>T	chr8.hg19:g.2092682C>T	ENSP00000262113:p.Ser1392Leu	1					MYOM2_ENST00000520298.1_3'UTR|MYOM2_ENST00000523438.1_Missense_Mutation_p.S817L	p.S1392L	NM_003970.2	NP_003961.2	0	1	1	1.466632	P54296	MYOM2_HUMAN		37	4316	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	1	1	hg19	c.4175C>T	CCDS5957.1	1	.	.	.	.	.	.	.	.	.	.	C	9.137	1.012872	0.19277	9.08E-4	1.16E-4	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.67865	-0.29;-0.29	5.24	-3.6	0.04570	5.24	-3.6	0.04570	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.978980	0.01974	N	0.044348	T	0.49406	0.1555	N	0.21240	0.645	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.25606	-1.0127	10	0.27785	T	0.31	.	6.7144	0.23294	0.184:0.3622:0.0:0.4538	.	1392	P54296	MYOM2_HUMAN	L	1392;817	ENSP00000262113:S1392L;ENSP00000428396:S817L	ENSP00000262113:S1392L	S	+	2	0	0	MYOM2	2080089	2080089	0.000000	0.05858	0.000000	0.03702	0.586000	0.36452	-1.046000	0.03525	-0.582000	0.05929	0.655000	0.94253	TCG	0.506247		TCGA-HZ-A8P1-01A-11D-A377-08	0.527	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	1	0	1	2	2	2	2	0	0	0	0	96	96	96	96	1	1.880000	-3.318794	1	0.670000	NM_003970		0	103	100	0	104	98	1		1	1		0	0	96	0	0	1.000000	8.065406e-01	0	2	0	3	0	103	104
ZMAT4	79698	broad.mit.edu	37	8	40532397	40532397	+	Missense_Mutation	SNP	C	C	T	rs559636677		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr8:40532397C>T	ENST00000297737.6	-	5	549	c.403G>A	c.(403-405)Gca>Aca	p.A135T	ZMAT4_ENST00000315769.7_Intron	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	135						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			TAGGGAGATGCGACCACCGGA	0.517																																						ENST00000297737.6	0.060000	0	0.040000	1.000000e-02	0.020000	0.033343	0.020000	0.030000																										0				18						c.(403-405)Gca>Aca		zinc finger, matrin-type 4							158.0	159.0	158.0					8																	40532397		2203	4300	6503	SO:0001583	missense	79698	1	121412	30				g.chr8:40532397C>T	AK023904	CCDS34885.1, CCDS47848.1	8p11.21	2012-10-05	2010-09-15		ENSG00000165061	ENSG00000165061		"""Zinc fingers, matrin-type"""	25844	protein-coding gene	gene with protein product						12477932	Standard	NM_024645		Approved	FLJ13842	uc003xnr.3	Q9H898	OTTHUMG00000164049	ENST00000297737.6:c.403G>A	chr8.hg19:g.40532397C>T	ENSP00000297737:p.Ala135Thr	1					ZMAT4_ENST00000315769.7_Intron	p.A135T	NM_024645.2	NP_078921.1	0	1	1	1.456025	Q9H898	ZMAT4_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.00722)	5	549	-	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	Q8WUT8	Missense_Mutation	SNP	ENST00000297737.6	0	1	hg19	c.403G>A	CCDS34885.1	0	.	.	.	.	.	.	.	.	.	.	C	8.698	0.909157	0.17833	.	.	ENSG00000165061	ENST00000297737;ENST00000519406	T;T	0.41758	0.99;0.99	5.15	-4.1	0.03940	5.15	-4.1	0.03940	.	0.842881	0.10911	N	0.620537	T	0.15003	0.0362	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.04013	0.001	T	0.21759	-1.0236	10	0.15952	T	0.53	-0.6256	2.6729	0.05073	0.1913:0.4688:0.0947:0.2452	.	135	Q9H898	ZMAT4_HUMAN	T	135	ENSP00000297737:A135T;ENSP00000428423:A135T	ENSP00000297737:A135T	A	-	1	0	0	ZMAT4	40651554	40651554	0.000000	0.05858	0.130000	0.21974	0.692000	0.40212	-2.263000	0.01174	-0.981000	0.03520	0.557000	0.71058	GCA	0.506247		TCGA-HZ-A8P1-01A-11D-A377-08	0.517	ZMAT4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376950.1	0	0	1	2	2	2	2	0	0	0	0	201	201	201	200	1	1.880000	-1.874949	0	0.670000	NM_024645		0	7	8	0	469	456	0		1			0	0	201	0	0	0.978920	0	0	0	0	0	0	7	469
IKBKB	3551	broad.mit.edu	37	8	42129663	42129664	+	Nonsense_Mutation	DNP	GG	GG	AA			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr8:42129663_42129664GG>AA	ENST00000520810.1	+	2	231_232	c.45_46GG>AA	c.(43-48)tgGGaa>tgAAaa	p.15_16WE>*K	RP11-231D20.2_ENST00000520890.1_RNA|IKBKB_ENST00000379708.3_5'UTR|RP11-231D20.2_ENST00000518994.1_RNA|IKBKB_ENST00000518983.1_Nonsense_Mutation_p.15_16WE>*K|IKBKB_ENST00000519735.1_Nonsense_Mutation_p.15_16WE>*K|RP11-231D20.2_ENST00000523459.1_RNA|IKBKB_ENST00000416505.2_5'UTR|IKBKB_ENST00000522147.1_Nonsense_Mutation_p.15_16WE>*K|RP11-231D20.2_ENST00000518213.1_RNA|IKBKB_ENST00000520835.1_Intron	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	15	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|T cell receptor signaling pathway (GO:0050852)|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)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	GTGGGGCCTGGGAAATGAAAGA	0.54																																						ENST00000520810.1	1.000000	7.900000e-01|8.000000e-01	0.970000|0.980000	8.500000e-01|8.600000e-01	0.910000	0.914187|0.919569	0.910000	0.930000																										0				8						c.(43-45)tgG>tgA|c.(46-48)Gaa>Aaa		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)																																			SO:0001587	stop_gained	3551	0	0					g.chr8:42129663G>A|g.chr8:42129664G>A	AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	Exception_encountered	chr8.hg19:g.42129663_42129664delinsAA	ENSP00000430684:p.W15_E16delins*K	1					RP11-231D20.2_ENST00000518213.1_RNA|IKBKB_ENST00000522147.1_Nonsense_Mutation_p.W15*|IKBKB_ENST00000379708.3_5'UTR|RP11-231D20.2_ENST00000518994.1_RNA|IKBKB_ENST00000520835.1_Intron|RP11-231D20.2_ENST00000523459.1_RNA|IKBKB_ENST00000416505.2_5'UTR|IKBKB_ENST00000519735.1_Nonsense_Mutation_p.W15*|RP11-231D20.2_ENST00000520890.1_RNA|IKBKB_ENST00000518983.1_Nonsense_Mutation_p.W15*|RP11-231D20.2_ENST00000518213.1_RNA|IKBKB_ENST00000522147.1_Missense_Mutation_p.E16K|IKBKB_ENST00000379708.3_5'UTR|RP11-231D20.2_ENST00000518994.1_RNA|IKBKB_ENST00000520835.1_Intron|RP11-231D20.2_ENST00000523459.1_RNA|IKBKB_ENST00000416505.2_5'UTR|IKBKB_ENST00000519735.1_Missense_Mutation_p.E16K|RP11-231D20.2_ENST00000520890.1_RNA|IKBKB_ENST00000518983.1_Missense_Mutation_p.E16K	p.W15*|p.E16K	NM_001556.2	NP_001547.1	0	1	1	1.456025	O14920	IKKB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)	2	231|232	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	B4DZ30|B4E0U4|O75327	Nonsense_Mutation|Missense_Mutation	SNP	ENST00000520810.1	0|1	1	hg19	c.45G>A|c.46G>A	CCDS6128.1	1																									4.84	4.84	0.62591																																												0			42248820|42248821														0.506247		TCGA-HZ-A8P1-01A-11D-A377-08	0.540	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1	1	0	1	2	2	2	2	0	0	0	0	111	111|113	111|113	109|111	1	1.880000	-19.999920|-20.000000	1	0.670000			0	114	112	0	131|129	128|126	1		1	1		0	0	111|113	0	0	1.000000	9.984926e-01|9.986172e-01	0	14	0	1	0	114	129
TYRP1	7306	broad.mit.edu	37	9	12698537	12698537	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr9:12698537G>C	ENST00000388918.5	+	4	924	c.795G>C	c.(793-795)ttG>ttC	p.L265F	TYRP1_ENST00000381137.2_Intron|RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000381136.2_Intron	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	265					acetoacetic acid metabolic process (GO:0043438)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		CGGATGACTTGATGGGATCCA	0.433									Oculocutaneous Albinism																													ENST00000388918.5	0.990000	7.800000e-01	0.950000	8.300000e-01	0.890000	0.895043	0.890000	0.900000																										0				22						c.(793-795)ttG>ttC		tyrosinase-related protein 1							122.0	116.0	118.0					9																	12698537		2203	4300	6503	SO:0001583	missense	7306	0	0		Oculocutaneous Albinism	Familial Cancer Database		g.chr9:12698537G>C	L33830	CCDS34990.1	9p23	2013-01-08			ENSG00000107165	ENSG00000107165			12450	protein-coding gene	gene with protein product		115501		TYRP, CAS2		9434945	Standard	NM_000550		Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	P17643	OTTHUMG00000021034	ENST00000388918.5:c.795G>C	chr9.hg19:g.12698537G>C	ENSP00000373570:p.Leu265Phe	1					TYRP1_ENST00000381136.2_Intron|RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000381137.2_Intron	p.L265F	NM_000550.2	NP_000541.1	0	1	1	1.381100	P17643	TYRP1_HUMAN		4	924	+		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)	P78468|P78469|Q13721|Q15679	Missense_Mutation	SNP	ENST00000388918.5	1	1	hg19	c.795G>C	CCDS34990.1	1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.266534	0.40095	.	.	ENSG00000107165	ENST00000388918	D	0.98633	-5.04	6.07	4.23	0.50019	6.07	4.23	0.50019	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.121883	0.56097	D	0.000034	D	0.95771	0.8624	L	0.28608	0.87	0.80722	D	1	B	0.25007	0.116	B	0.35278	0.199	D	0.91030	0.4863	10	0.30854	T	0.27	-6.3417	4.1206	0.10104	0.1303:0.2338:0.5154:0.1205	.	265	P17643	TYRP1_HUMAN	F	265	ENSP00000373570:L265F	ENSP00000373570:L265F	L	+	3	2	2	TYRP1	12688537	12688537	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.652000	0.37313	0.889000	0.36185	0.655000	0.94253	TTG	0.503759		TCGA-HZ-A8P1-01A-11D-A377-08	0.433	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055502.3	1	0	1	2	2	2	2	0	0	0	0	130	130	130	130	1	1.880000	-20.000000	1	0.670000	NM_000550		0	127	126	0	152	149	1		1			0	0	130	0	0	1.000000	0	0	0	0	0	0	127	152
SLC24A2	25769	broad.mit.edu	37	9	19786147	19786147	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr9:19786147G>A	ENST00000341998.2	-	1	779	c.718C>T	c.(718-720)Cga>Tga	p.R240*	SLC24A2_ENST00000286344.3_Nonsense_Mutation_p.R240*	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	240					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		GACACATCTCGAAAGAGCGGC	0.398																																						ENST00000341998.2	0.540000	3.200000e-01	0.490000	3.700000e-01	0.420000	0.432775	0.420000	0.430000																										0				33						c.(718-720)Cga>Tga		solute carrier family 24 (sodium/potassium/calcium exchanger), member 2							93.0	87.0	89.0					9																	19786147		2203	4300	6503	SO:0001587	stop_gained	25769	0	0					g.chr9:19786147G>A	AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"""Solute carriers"""	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.718C>T	chr9.hg19:g.19786147G>A	ENSP00000344801:p.Arg240*	1					SLC24A2_ENST00000286344.3_Nonsense_Mutation_p.R240*	p.R240*	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	0	1	1	1.381100	Q9UI40	NCKX2_HUMAN		1	779	-			B7ZLL8|Q9NTN5|Q9NZQ4	Nonsense_Mutation	SNP	ENST00000341998.2	0	1	hg19	c.718C>T	CCDS6493.1	0	.	.	.	.	.	.	.	.	.	.	G	37	6.631099	0.97718	.	.	ENSG00000155886	ENST00000341998;ENST00000286344	.	.	.	5.91	2.77	0.32553	5.91	2.77	0.32553	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9975	0.47585	0.0676:0.0:0.6657:0.2667	.	.	.	.	X	240	.	.	R	-	1	2	2	SLC24A2	19776147	19776147	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.261000	0.43276	0.806000	0.34183	0.655000	0.94253	CGA	0.503759		TCGA-HZ-A8P1-01A-11D-A377-08	0.398	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051866.2	1	0	1	2	2	2	2	0	0	0	0	129	129	129	128	1	1.880000	-20.000000	1	0.670000	NM_020344		0	45	45	0	163	160	1		1	0		0	0	129	0	0	1.000000	0	0	0	0	1	0	45	163
FBXO10	26267	broad.mit.edu	37	9	37537233	37537233	+	Silent	SNP	G	G	C	rs199569952	byFrequency	TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr9:37537233G>C	ENST00000432825.2	-	3	1341	c.1293C>G	c.(1291-1293)ctC>ctG	p.L431L	FBXO10_ENST00000541829.1_Intron|FBXO10_ENST00000543968.1_5'Flank|RP11-613M10.8_ENST00000544475.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	431					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		ACTTGCGGATGAGGCAGCCCT	0.602																																						ENST00000432825.2	0.170000	2.000000e-02	0.120000	4.000000e-02	0.070000	0.085981	0.070000	0.070000																										0				34						c.(1291-1293)ctC>ctG		F-box protein 10							45.0	47.0	46.0					9																	37537233		2029	4191	6220	SO:0001819	synonymous_variant	26267	0	0					g.chr9:37537233G>C	AF174598	CCDS47966.1	9p13.1	2014-01-29	2004-06-15		ENSG00000147912	ENSG00000147912		"""F-boxes /  ""other"""""	13589	protein-coding gene	gene with protein product		609092	"""F-box only protein 10"""			10531035, 10531037, 19300908	Standard	NM_012166		Approved	FBX10	uc004aab.3	Q9UK96	OTTHUMG00000019926	ENST00000432825.2:c.1293C>G	chr9.hg19:g.37537233G>C		0					RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Intron|FBXO10_ENST00000543968.1_5'Flank	p.L431L	NM_012166.2	NP_036298.2	0	0	0	2.087965	Q9UK96	FBX10_HUMAN		3	1341	-			Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Silent	SNP	ENST00000432825.2	0	1	hg19	c.1293C>G	CCDS47966.1	0																																																																																								0.670000		TCGA-HZ-A8P1-01A-11D-A377-08	0.602	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052472.3	0	0	1	2	2	2	2	0	0	0	0	63	63	63	62	1	1.880000	-6.186070	1	0.670000			0	4	4	0	167	166	0		1	0		0	0	63	0	0	0.889944	0	0	0	0	1	0	4	167
SMC2	10592	broad.mit.edu	37	9	106889705	106889705	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr9:106889705G>A	ENST00000286398.7	+	20	3022	c.2734G>A	c.(2734-2736)Gaa>Aaa	p.E912K	SMC2_ENST00000374787.3_Missense_Mutation_p.E912K|SMC2_ENST00000303219.8_Missense_Mutation_p.E912K|SMC2_ENST00000374793.3_Missense_Mutation_p.E912K	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	912					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						TAAAATTAAGGAATTAGACCA	0.353																																						ENST00000286398.7	0.170000	4.000000e-02	0.140000	6.000000e-02	0.090000	0.105277	0.090000	0.100000																										0				48						c.(2734-2736)Gaa>Aaa		structural maintenance of chromosomes 2							145.0	139.0	141.0					9																	106889705		2203	4300	6503	SO:0001583	missense	10592	0	0					g.chr9:106889705G>A	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.2734G>A	chr9.hg19:g.106889705G>A	ENSP00000286398:p.Glu912Lys	0					SMC2_ENST00000303219.8_Missense_Mutation_p.E912K|SMC2_ENST00000374793.3_Missense_Mutation_p.E912K|SMC2_ENST00000374787.3_Missense_Mutation_p.E912K	p.E912K	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	0	0	0	2.087965	O95347	SMC2_HUMAN		20	3022	+			Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	1	1	hg19	c.2734G>A	CCDS35086.1	0	.	.	.	.	.	.	.	.	.	.	G	13.82	2.350640	0.41599	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	T;T;T;T	0.78003	-0.49;-0.49;-1.14;-0.49	5.84	5.84	0.93424	5.84	5.84	0.93424	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.53578	0.1805	N	0.02286	-0.61	0.58432	D	0.999999	B	0.06786	0.001	B	0.06405	0.002	T	0.57676	-0.7770	10	0.02654	T	1	-15.7009	18.7141	0.91668	0.0:0.0:1.0:0.0	.	912	O95347	SMC2_HUMAN	K	912	ENSP00000286398:E912K;ENSP00000363925:E912K;ENSP00000306152:E912K;ENSP00000363919:E912K	ENSP00000286398:E912K	E	+	1	0	0	SMC2	105929526	105929526	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.084000	0.71335	2.763000	0.94921	0.650000	0.86243	GAA	0.670000		TCGA-HZ-A8P1-01A-11D-A377-08	0.353	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1	0	0	1	2	12	2	2	0	0	0	1	88	88	88	88	1	1.880000	-3.543315	1	0.670000			0	9	9	0	272	265	0		0	1		0	0	88	0	0	0.304530	2.100598e-01	0	3	0	21	0	9	272
KIAA1210	57481	broad.mit.edu	37	X	118221146	118221146	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chrX:118221146C>A	ENST00000402510.2	-	11	4046	c.4047G>T	c.(4045-4047)aaG>aaT	p.K1349N		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1349										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TCACTGGGCCCTTTGATGACA	0.473																																						ENST00000402510.2	0.210000	1.300000e-01	0.190000	1.400000e-01	0.160000	0.171910	0.160000	0.170000																										0				64						c.(4045-4047)aaG>aaT		KIAA1210							213.0	203.0	206.0					X																	118221146		1956	4136	6092	SO:0001583	missense	57481	0	0					g.chrX:118221146C>A	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.4047G>T	chrX.hg19:g.118221146C>A	ENSP00000384670:p.Lys1349Asn							p.K1349N	NM_020721.1	NP_065772.1	0	1	1		Q9ULL0	K1210_HUMAN		11	4046	-			B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	1	1	hg19	c.4047G>T	CCDS48156.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.053|4.053	0.007534|0.007534	0.07866|0.07866	.|.	.|.	ENSG00000248857|ENSG00000250423	ENST00000440399|ENST00000402510	.|T	.|0.10382	.|2.88	4.47|4.47	-5.1|-5.1	0.02911|0.02911	4.47|4.47	-5.1|-5.1	0.02911|0.02911	.|.	.|.	.|.	.|.	.|.	T|T	0.03827|0.03827	0.0108|0.0108	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B	.|0.29508	.|0.246	.|B	.|0.23716	.|0.048	T|T	0.44298|0.44298	-0.9337|-0.9337	5|9	.|0.18276	.|T	.|0.48	.|.	7.1739|7.1739	0.25734|0.25734	0.0:0.1921:0.1243:0.6836|0.0:0.1921:0.1243:0.6836	.|.	.|1349	.|Q9ULL0	.|K1210_HUMAN	W|N	756|1349	.|ENSP00000384670:K1349N	.|ENSP00000384670:K1349N	G|K	-|-	1|3	0|2	0|2	KIAA1210|RP13-347D8.6	118105174|118105174	118105174|118105174	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.044000|-0.044000	0.12023|0.12023	-1.290000|-1.290000	0.02372|0.02372	-0.322000|-0.322000	0.08575|0.08575	GGG|AAG	0.670000		TCGA-HZ-A8P1-01A-11D-A377-08	0.473	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	1	0	1	2	2	2	2	0	0	0	0	231	231	231	229	1	1.880000	-3.318794	1	0.670000	NM_020721		0	76	72	0	590	579	1		1			0	0	231	0	0	1.000000	0	0	0	0	0	0	76	590
PLCXD1	55344	broad.mit.edu	37	X	215966	215966	+	Silent	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chrX:215966C>T	ENST00000381657.2	+	7	1450	c.936C>T	c.(934-936)gaC>gaT	p.D312D	PLCXD1_ENST00000381663.3_Silent_p.D312D|PLCXD1_ENST00000399012.1_Silent_p.D312D	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1	312					lipid metabolic process (GO:0006629)		phosphoric diester hydrolase activity (GO:0008081)			endometrium(3)|large_intestine(1)|lung(7)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCGTCAGTGACGTCATCGCGC	0.627																																						ENST00000381657.2	0.720000	5.300000e-01	0.680000	5.800000e-01	0.620000	0.632689	0.620000	0.630000																										0				11						c.(934-936)gaC>gaT		phosphatidylinositol-specific phospholipase C, X domain containing 1							89.0	79.0	82.0					X																	215966		2203	4296	6499	SO:0001819	synonymous_variant	55344	7	121412	41				g.chrX:215966C>T	AK002185	CCDS14103.1	Xp22.33 and Yp11.32	2010-07-28			ENSG00000182378	ENSG00000182378		"""Pseudoautosomal regions / PAR1"""	23148	protein-coding gene	gene with protein product							Standard	NM_018390		Approved	FLJ11323	uc004cpc.3	Q9NUJ7	OTTHUMG00000022693	ENST00000381657.2:c.936C>T	chrX.hg19:g.215966C>T							PLCXD1_ENST00000381663.3_Silent_p.D312D|PLCXD1_ENST00000399012.1_Silent_p.D312D	p.D312D	NM_018390.3	NP_060860.1	0	1	1		Q9NUJ7	PLCX1_HUMAN		7	1450	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	A2BH51|A2BH52	Silent	SNP	ENST00000381657.2	1	1	hg19	c.936C>T	CCDS14103.1	0																																																																																								0.670000		TCGA-HZ-A8P1-01A-11D-A377-08	0.627	PLCXD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058879.2	1	0	1	2	2	2	2	0	0	0	0	76	76	76	75	1	1.880000	-20.000000	1	0.670000	NM_018390		0	109	109	0	148	146	1		1	1		0	0	76	0	0	1.000000	9.996310e-01	0	9	0	11	0	109	148
GPR50	9248	broad.mit.edu	37	X	150349207	150349207	+	Silent	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chrX:150349207C>T	ENST00000218316.3	+	2	1221	c.1152C>T	c.(1150-1152)ggC>ggT	p.G384G	AF003625.3_ENST00000602313.1_lincRNA|GPR50-AS1_ENST00000454196.1_RNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	384	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)					GTGCCTCTGGCCACCCTAAGC	0.587																																						ENST00000218316.3	0.070000	0	0.050000	1.000000e-02	0.030000	0.038140	0.030000	0.030000																										0				38						c.(1150-1152)ggC>ggT		G protein-coupled receptor 50							93.0	105.0	101.0					X																	150349207		2132	4222	6354	SO:0001819	synonymous_variant	9248	0	0					g.chrX:150349207C>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.1152C>T	chrX.hg19:g.150349207C>T							GPR50-AS1_ENST00000454196.1_RNA|AF003625.3_ENST00000602313.1_lincRNA	p.G384G	NM_004224.3	NP_004215.2	0	1	1		Q13585	MTR1L_HUMAN		2	1221	+	Acute lymphoblastic leukemia(192;6.56e-05)		Q0VGG3|Q3ZAR0	Silent	SNP	ENST00000218316.3	0	1	hg19	c.1152C>T	CCDS44012.1	0																																																																																								0.670000		TCGA-HZ-A8P1-01A-11D-A377-08	0.587	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	0	0	1	2	10	2	2	1	1	1	1	75	75	75	75	1	1.880000	-2.663265	1	0.670000	NM_004224		0	4	4	0	189	189	0		0			1	0	75	0	0	0.084252	0	0	0	0	0	0	4	189
