#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
HMX2	3167	broad.mit.edu	37	10	124908058	124908064	+	Frame_Shift_Del	DEL	AGCCGGA	AGCCGGA	-			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr10:124908058_124908064delAGCCGGA	ENST00000339992.3	+	1	421_427	c.164_170delAGCCGGA	c.(163-171)gagccggacfs	p.EPD55fs		NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN	H6 family homeobox 2	55					brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|kidney(1)|lung(4)|prostate(1)	7		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		GAGGAGGAGGAGCCGGACGACGGCTGG	0.71																																						ENST00000339992.3	1.000000	4.700000e-01	0.980000	6.100000e-01	0.780000	0.789708	0.780000	1.000000																										0				7						c.(163-171)gagccggacfs		H6 family homeobox 2																																				SO:0001589	frameshift_variant	3167	0	0					g.chr10:124908058_124908064delAGCCGGA		CCDS31305.1	10q26.13	2011-06-20	2007-07-09		ENSG00000188816	ENSG00000188816		"""Homeoboxes / ANTP class : NKL subclass"""	5018	protein-coding gene	gene with protein product		600647	"""homeo box (H6 family) 2"""			7647458	Standard	XM_005269743		Approved	NKX5-2	uc001lhc.1	A2RU54	OTTHUMG00000019198	ENST00000339992.3:c.164_170delAGCCGGA	chr10.hg19:g.124908058_124908064delAGCCGGA	ENSP00000341108:p.Glu55fs	0						p.EPD55fs	NM_005519.1	NP_005510.1	0	1	1	2.044470	A2RU54	HMX2_HUMAN		1	421_427	+		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)	B2RNV5	Frame_Shift_Del	DEL	ENST00000339992.3	0	1	hg19	c.164_170delAGCCGGA	CCDS31305.1	0																																																																																								0.268024		TCGA-2J-AAB8-01A-12D-A40W-08	0.710	HMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050841.1	1	0	1		17			0		0	1	27		27	27	1	1.810000	-19.999940	1	0.270000	XM_370580			16	18		135	133	0		1		0	0	0	27	0		0.491941		0	0	0	0	0	16	135
ARHGAP5	394	broad.mit.edu	37	14	32586406	32586406	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr14:32586406delT	ENST00000345122.3	+	3	4093	c.3778delT	c.(3778-3780)tttfs	p.F1260fs	ARHGAP5_ENST00000433497.1_5'UTR|ARHGAP5_ENST00000556611.1_Frame_Shift_Del_p.F1259fs|ARHGAP5_ENST00000539826.2_Frame_Shift_Del_p.F1260fs|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Frame_Shift_Del_p.F1259fs	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1260					cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AAGTAATTACTTTGGGATGCC	0.343																																					NSCLC(9;77 350 3443 29227 41353)	ENST00000345122.3	1.000000	9.300000e-01	1.000000	9.900000e-01	0.990000	0.996247	0.990000	1.000000																										0				55						c.(3778-3780)tttfs		Rho GTPase activating protein 5							89.0	93.0	91.0					14																	32586406		2203	4300	6503	SO:0001589	frameshift_variant	394	0	0					g.chr14:32586406delT	U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.3778delT	chr14.hg19:g.32586406delT	ENSP00000371897:p.Phe1260fs	1					ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000432921.1_Frame_Shift_Del_p.F1259fs|ARHGAP5_ENST00000539826.2_Frame_Shift_Del_p.F1260fs|ARHGAP5_ENST00000433497.1_5'UTR|ARHGAP5_ENST00000556611.1_Frame_Shift_Del_p.F1259fs	p.F1260fs	NM_001030055.1	NP_001025226.1	0	2	2	1.919825	Q13017	RHG05_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	3	4093	+	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Frame_Shift_Del	DEL	ENST00000345122.3	1	0	hg19	c.3778delT	CCDS32062.1	1																																																																																								0.270000		TCGA-2J-AAB8-01A-12D-A40W-08	0.343	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409735.1	1	0	1		33	2		0		0	2	78		78	76	1	1.810000	-20.000000	1	0.270000	NM_001030055			88	104		484	485	0		1	1	0	0	0	78	0		1.000000	9.735691e-01	0	9	0	25	0	88	484
SLC4A2	6522	broad.mit.edu	37	7	150772809	150772810	+	Frame_Shift_Ins	INS	-	-	A	rs139739553	byFrequency	TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08			-	A	-	-		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr7:150772809_150772810insA	ENST00000485713.1	+	21	4458_4459	c.3418_3419insA	c.(3418-3420)catfs	p.H1140fs	SLC4A2_ENST00000461735.1_Frame_Shift_Ins_p.H1126fs|SLC4A2_ENST00000392826.2_Frame_Shift_Ins_p.H1131fs|FASTK_ENST00000489884.1_5'Flank|SLC4A2_ENST00000413384.2_Frame_Shift_Ins_p.H1140fs|RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000310317.5_Frame_Shift_Ins_p.H1058fs	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	1140	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGAGCGGCTGCATCTGCTGCTC	0.599																																						ENST00000485713.1	0.620000	3.000000e-01	0.540000	3.600000e-01	0.440000	0.458155	0.440000	0.440000																										0				33						c.(3418-3420)catfs		solute carrier family 4 (anion exchanger), member 2																																				SO:0001589	frameshift_variant	6522	0	0					g.chr7:150772809_150772810insA		CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"""Solute carriers"""	11028	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.3419dupA	chr7.hg19:g.150772810_150772810dupA	ENSP00000419412:p.His1140fs	0					SLC4A2_ENST00000413384.2_Frame_Shift_Ins_p.H1140fs|RP11-148K1.12_ENST00000485974.1_RNA|SLC4A2_ENST00000461735.1_Frame_Shift_Ins_p.H1126fs|SLC4A2_ENST00000392826.2_Frame_Shift_Ins_p.H1131fs|SLC4A2_ENST00000310317.5_Frame_Shift_Ins_p.H1058fs|FASTK_ENST00000489884.1_5'Flank	p.H1140fs	NM_001199692.1	NP_001186621.1	0	1	1	1.978737	P04920	B3A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	21	4458_4459	+			B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Frame_Shift_Ins	INS	ENST00000485713.1	0	1	hg19	c.3418_3419insA	CCDS5917.1	0																																																																																								0.233797		TCGA-2J-AAB8-01A-12D-A40W-08	0.599	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	1	0	1		2	2		0		0	0	104		104	101	1	1.810000	-7.132495	1	0.270000	NM_003040			27	29		399	389	0		1	0	0	0	0	104	0		1.000000	9.955103e-01	0	0	0	126	0	27	399
OGDHL	55753	broad.mit.edu	37	10	50946068	50946068	+	Silent	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr10:50946068G>A	ENST00000374103.4	-	19	2527	c.2442C>T	c.(2440-2442)atC>atT	p.I814I	OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000419399.1_Silent_p.I757I|OGDHL_ENST00000432695.1_Silent_p.I605I	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	814					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						AGTTGACCACGATCCAGTTGC	0.622																																						ENST00000374103.4	0.420000	2.400000e-01	0.380000	2.700000e-01	0.320000	0.331888	0.320000	0.330000																										0				61						c.(2440-2442)atC>atT		oxoglutarate dehydrogenase-like							254.0	234.0	241.0					10																	50946068		2203	4300	6503	SO:0001819	synonymous_variant	55753	30	121412	50				g.chr10:50946068G>A	AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.2442C>T	chr10.hg19:g.50946068G>A		0					OGDHL_ENST00000432695.1_Silent_p.I605I|OGDHL_ENST00000419399.1_Silent_p.I757I|OGDHL_ENST00000490844.1_5'UTR	p.I814I	NM_018245.2	NP_060715.2	0	0	0	2.033354	Q9ULD0	OGDHL_HUMAN		19	2527	-			A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Silent	SNP	ENST00000374103.4	1	1	hg19	c.2442C>T	CCDS7234.1	0																																																																																								0.262030		TCGA-2J-AAB8-01A-12D-A40W-08	0.622	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048007.1	1	0	1		2	2	2	0		0	0	205		205	198	1	1.810000	-5.060615	1	0.270000	NM_018245			48	48		1029	1015	0		1			0	0	205	0		1.000000	0	0	0	0	0	0	48	1029
OR52M1	119772	broad.mit.edu	37	11	4566499	4566499	+	Missense_Mutation	SNP	G	G	A	rs138278883		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr11:4566499G>A	ENST00000360213.1	+	1	79	c.79G>A	c.(79-81)Gtc>Atc	p.V27I		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	27						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTCCCTACACGTCTGGCTCTC	0.542													G|||	1	0.000199681	0.0	0.0	5008	,	,		19756	0.0		0.0	False		,,,				2504	0.001					ENST00000360213.1	0.320000	6.000000e-02	0.250000	1.100000e-01	0.160000	0.182603	0.160000	0.160000																										0				18						c.(79-81)Gtc>Atc		olfactory receptor, family 52, subfamily M, member 1		G	ILE/VAL	0,4402		0,0,2201	107.0	96.0	100.0		79	-2.3	0.0	11	dbSNP_134	100	1,8595	1.2+/-3.3	0,1,4297	no	missense	OR52M1	NM_001004137.1	29	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	benign	27/318	4566499	1,12997	2201	4298	6499	SO:0001583	missense	119772	18	121412	43				g.chr11:4566499G>A	AB065789	CCDS31353.1	11p15.4	2012-08-09	2002-11-13	2002-11-15	ENSG00000197790	ENSG00000197790		"""GPCR / Class A : Olfactory receptors"""	15225	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily M, member 1 pseudogene"""	OR52M1P			Standard	NM_001004137		Approved		uc010qyf.2	Q8NGK5	OTTHUMG00000165706	ENST00000360213.1:c.79G>A	chr11.hg19:g.4566499G>A	ENSP00000353343:p.Val27Ile	0						p.V27I	NM_001004137.1	NP_001004137.1	0	1	1	1.962501	Q8NGK5	O52M1_HUMAN		1	79	+		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Missense_Mutation	SNP	ENST00000360213.1	0	1	hg19	c.79G>A	CCDS31353.1	0	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.289704	0.00248	0.0	1.16E-4	ENSG00000197790	ENST00000360213	T	0.00296	8.24	4.82	-2.26	0.06867	4.82	-2.26	0.06867	.	0.644741	0.13674	N	0.370680	T	0.00073	0.0002	N	0.11313	0.125	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28808	-1.0032	10	0.02654	T	1	.	6.5865	0.22624	0.4305:0.4103:0.1592:0.0	.	27	Q8NGK5	O52M1_HUMAN	I	27	ENSP00000353343:V27I	ENSP00000353343:V27I	V	+	1	0	0	OR52M1	4523075	4523075	0.000000	0.05858	0.003000	0.11579	0.145000	0.21501	-1.630000	0.02028	-0.158000	0.11040	-0.294000	0.09567	GTC	0.230526		TCGA-2J-AAB8-01A-12D-A40W-08	0.542	OR52M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385847.1	0	0	1		2	2	2	0		0	0	68		68	65	1	1.810000	-3.307470	1	0.270000	NM_001004137			6	6		258	257	0		1			0	0	68	0		0.965056	0	0	0	0	0	0	6	258
KCNA4	3739	broad.mit.edu	37	11	30033513	30033513	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr11:30033513C>T	ENST00000328224.6	-	2	1946	c.713G>A	c.(712-714)gGa>gAa	p.G238E	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	238					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	CAGGCGGCCTCCTGATTGATA	0.483																																						ENST00000328224.6	0.640000	3.700000e-01	0.570000	4.300000e-01	0.500000	0.508566	0.500000	0.500000																										0				78						c.(712-714)gGa>gAa		potassium voltage-gated channel, shaker-related subfamily, member 4	Dalfampridine(DB06637)						94.0	85.0	88.0					11																	30033513		1864	4119	5983	SO:0001583	missense	3739	0	0					g.chr11:30033513C>T	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.713G>A	chr11.hg19:g.30033513C>T	ENSP00000328511:p.Gly238Glu	0					KCNA4_ENST00000526518.1_5'Flank	p.G238E	NM_002233.3	NP_002224.1	0	1	1	1.962501	P22459	KCNA4_HUMAN		2	1946	-				Missense_Mutation	SNP	ENST00000328224.6	1	1	hg19	c.713G>A	CCDS41629.1	0	.	.	.	.	.	.	.	.	.	.	C	22.5	4.291932	0.80914	.	.	ENSG00000182255	ENST00000328224	T	0.81247	-1.47	4.94	4.94	0.65067	4.94	4.94	0.65067	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.91898	0.7435	M	0.90870	3.155	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.93827	0.7124	10	0.87932	D	0	.	18.1944	0.89817	0.0:1.0:0.0:0.0	.	238	P22459	KCNA4_HUMAN	E	238	ENSP00000328511:G238E	ENSP00000328511:G238E	G	-	2	0	0	KCNA4	29990089	29990089	1.000000	0.71417	0.985000	0.45067	0.980000	0.70556	7.787000	0.85759	2.297000	0.77311	0.655000	0.94253	GGA	0.230526		TCGA-2J-AAB8-01A-12D-A40W-08	0.483	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	1	0	1		2	2	2	0		0	0	150		150	148	1	1.810000	-11.054780	1	0.270000	NM_002233			52	52		675	669	0		1			0	0	150	0		1.000000	0	0	0	0	0	0	52	675
RAG1	5896	broad.mit.edu	37	11	36595189	36595189	+	Missense_Mutation	SNP	G	G	A	rs4151026		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr11:36595189G>A	ENST00000299440.5	+	2	447	c.335G>A	c.(334-336)cGc>cAc	p.R112H		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	112	Interaction with importin alpha-1.				adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R112L(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CATCTCTGCCGCATCTGTGGG	0.453									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	ENST00000299440.5	0.270000	7.000000e-02	0.210000	1.000000e-01	0.150000	0.165595	0.150000	0.150000																										1	Substitution - Missense(1)	p.R112L(1)	lung(1)	65						c.(334-336)cGc>cAc		recombination activating gene 1							111.0	106.0	107.0					11																	36595189		2202	4298	6500	SO:0001583	missense	5896	3	121412	40	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	g.chr11:36595189G>A	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.335G>A	chr11.hg19:g.36595189G>A	ENSP00000299440:p.Arg112His	0						p.R112H	NM_000448.2	NP_000439	0	1	1	1.962501	P15918	RAG1_HUMAN		2	447	+	all_lung(20;0.226)	all_hematologic(20;0.107)	E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	0	1	hg19	c.335G>A	CCDS7902.1	0	.	.	.	.	.	.	.	.	.	.	G	32	5.146608	0.94603	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	T;T	0.74737	-0.87;-0.87	6.14	6.14	0.99180	6.14	6.14	0.99180	.	0.000000	0.85682	D	0.000000	D	0.89976	0.6871	M	0.91090	3.175	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	D	0.90685	0.4608	10	0.87932	D	0	.	20.8597	0.99761	0.0:0.0:1.0:0.0	.	112	P15918	RAG1_HUMAN	H	112	ENSP00000434610:R112H;ENSP00000299440:R112H	ENSP00000299440:R112H	R	+	2	0	0	RAG1	36551765	36551765	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	8.856000	0.92245	2.937000	0.99478	0.650000	0.86243	CGC	0.230526		TCGA-2J-AAB8-01A-12D-A40W-08	0.453	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	0	0	1		22	2	2	0		0	1	58		58	58	1	1.810000	-2.382451	0	0.270000	NM_000448			9	9		410	402	0		0			0	0	58	0		0.011318	0	0	0	0	0	0	9	410
HSPA8	3312	broad.mit.edu	37	11	122929855	122929855	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08			A	G	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr11:122929855A>G	ENST00000532636.1	-	6	1354	c.1235T>C	c.(1234-1236)gTc>gCc	p.V412A	HSPA8_ENST00000526110.1_Missense_Mutation_p.V393A|HSPA8_ENST00000526862.1_5'Flank|HSPA8_ENST00000534319.1_Missense_Mutation_p.V176A|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000227378.3_Missense_Mutation_p.V412A|HSPA8_ENST00000534624.1_Missense_Mutation_p.V412A|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000453788.2_Missense_Mutation_p.V412A|HSPA8_ENST00000533540.1_Missense_Mutation_p.V266A|SNORD14E_ENST00000364009.1_RNA			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	412					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CTTGATGAGGACAGTCATGAC	0.453																																					Colon(21;486 594 5900 6733 14272)	ENST00000532636.1	0.230000	3.000000e-02	0.170000	6.000000e-02	0.100000	0.118549	0.100000	0.100000																										0				36						c.(1234-1236)gTc>gCc		heat shock 70kDa protein 8							127.0	114.0	118.0					11																	122929855		2202	4299	6501	SO:0001583	missense	3312	0	0					g.chr11:122929855A>G	Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"""Heat shock proteins / HSP70"""	5241	protein-coding gene	gene with protein product		600816	"""heat shock 70kD protein 8"""	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.1235T>C	chr11.hg19:g.122929855A>G	ENSP00000437125:p.Val412Ala	0					HSPA8_ENST00000534624.1_Missense_Mutation_p.V412A|HSPA8_ENST00000227378.3_Missense_Mutation_p.V412A|HSPA8_ENST00000533540.1_Missense_Mutation_p.V266A|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000526862.1_5'Flank|HSPA8_ENST00000453788.2_Missense_Mutation_p.V412A|HSPA8_ENST00000534319.1_Missense_Mutation_p.V176A|HSPA8_ENST00000526110.1_Missense_Mutation_p.V393A|SNORD14E_ENST00000364009.1_RNA|SNORD14C_ENST00000365382.1_RNA	p.V412A			0	1	1	1.962501	P11142	HSP7C_HUMAN		6	1354	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	0	1	hg19	c.1235T>C	CCDS8440.1	0	.	.	.	.	.	.	.	.	.	.	A	1.596	-0.527894	0.04112	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000453788;ENST00000227378;ENST00000534319;ENST00000526110;ENST00000524552	T;T;T;T;T;T;T;T	0.00932	5.53;5.53;5.53;5.53;5.53;5.53;5.53;5.53	4.85	4.85	0.62838	4.85	4.85	0.62838	.	0.073163	0.52532	D	0.000068	T	0.00875	0.0029	N	0.26092	0.79	0.80722	D	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.09377	0.004;0.001;0.004	T	0.46034	-0.9220	10	0.02654	T	1	-23.4681	14.7123	0.69241	1.0:0.0:0.0:0.0	.	412;412;412	Q53GZ6;P11142-2;P11142	.;.;HSP7C_HUMAN	A	412;266;412;412;412;176;393;3	ENSP00000437125:V412A;ENSP00000437189:V266A;ENSP00000432083:V412A;ENSP00000404372:V412A;ENSP00000227378:V412A;ENSP00000433316:V176A;ENSP00000433584:V393A;ENSP00000435908:V3A	ENSP00000227378:V412A	V	-	2	0	0	HSPA8	122435065	122435065	0.998000	0.40836	0.932000	0.37286	0.060000	0.15804	3.668000	0.54554	1.935000	0.56089	0.459000	0.35465	GTC	0.230526		TCGA-2J-AAB8-01A-12D-A40W-08	0.453	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1	0	0	1		2	2	2	0		0	0	45		45	42	1	1.810000	-3.100669	1	0.270000				4	4		287	285	0		1	1		0	0	45	0		0.889421	9.968502e-01	0	31	0	948	0	4	287
KCNA1	3736	broad.mit.edu	37	12	5021099	5021099	+	Silent	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr12:5021099C>T	ENST00000382545.3	+	2	1662	c.555C>T	c.(553-555)tgC>tgT	p.C185C	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	185					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	TCATCTTTTGCCTGGAGACGC	0.582																																						ENST00000382545.3	1.000000	4.000000e-02	0.230000	7.000000e-02	0.120000	0.236770	0.120000	0.110000																										0				63						c.(553-555)tgC>tgT		potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)						84.0	80.0	81.0					12																	5021099		2203	4300	6503	SO:0001819	synonymous_variant	3736	0	0					g.chr12:5021099C>T	L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.555C>T	chr12.hg19:g.5021099C>T		0					KCNA1_ENST00000543874.2_Intron	p.C185C	NM_000217.2	NP_000208.2	1	2	3	2.134376	Q09470	KCNA1_HUMAN		2	1662	+			A6NM83|Q3MIQ9	Silent	SNP	ENST00000382545.3	0	1	hg19	c.555C>T	CCDS8535.1	0																																																																																								0.285435		TCGA-2J-AAB8-01A-12D-A40W-08	0.582	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103343.2	0	0	1		2	2	2	0		0	0	57		57	56	1	1.810000	-3.092612	1	0.270000	NM_000217			5	5		348	342	0		1			0	0	57	0		0.935118	0	0	0	0	0	0	5	348
GSG1	83445	broad.mit.edu	37	12	13240148	13240148	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr12:13240148C>T	ENST00000396302.3	-	5	898	c.700G>A	c.(700-702)Gac>Aac	p.D234N	GSG1_ENST00000351606.6_Missense_Mutation_p.D270N|GSG1_ENST00000537302.1_Silent_p.A164A|GSG1_ENST00000396310.2_Silent_p.A161A|GSG1_ENST00000432710.2_Silent_p.A205A|GSG1_ENST00000324458.8_Silent_p.A228A|GSG1_ENST00000457134.2_Silent_p.A141A|GSG1_ENST00000337630.6_Silent_p.A192A	NM_031289.3	NP_112579.2	Q2KHT4	GSG1_HUMAN	germ cell associated 1	0						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		AGTTGACAGTCGCTTGGAAGA	0.507																																						ENST00000396302.3	1.000000	9.900000e-01	1.000000	9.900000e-01	0.990000	0.999324	0.990000	1.000000																										0				10						c.(700-702)Gac>Aac		germ cell associated 1							133.0	115.0	121.0					12																	13240148		2203	4300	6503	SO:0001583	missense	83445	4	121412	35				g.chr12:13240148C>T	BC001796	CCDS8659.2, CCDS44835.1, CCDS44836.1, CCDS55806.1, CCDS55807.1, CCDS55808.1	12p13.31	2007-12-03			ENSG00000111305	ENSG00000111305			19716	protein-coding gene	gene with protein product							Standard	NM_031289		Approved	MGC3146	uc001rbn.3	Q2KHT4	OTTHUMG00000150148	ENST00000396302.3:c.700G>A	chr12.hg19:g.13240148C>T	ENSP00000379596:p.Asp234Asn	1					GSG1_ENST00000432710.2_Silent_p.A205A|GSG1_ENST00000337630.6_Silent_p.A192A|GSG1_ENST00000351606.6_Missense_Mutation_p.D270N|GSG1_ENST00000457134.2_Silent_p.A141A|GSG1_ENST00000396310.2_Silent_p.A161A|GSG1_ENST00000537302.1_Silent_p.A164A|GSG1_ENST00000324458.8_Silent_p.A228A	p.D234N	NM_031289.3	NP_112579.2	2	2	4	2.151653	Q2KHT4	GSG1_HUMAN		5	898	-		Prostate(47;0.183)	Q8N4M3|Q8NBR4|Q8NBS0|Q8NBT1|Q96LP9|Q96SI6|Q9BUY4	Missense_Mutation	SNP	ENST00000396302.3	1	1	hg19	c.700G>A	CCDS8659.2	1	.	.	.	.	.	.	.	.	.	.	C	3.860	-0.030023	0.07543	.	.	ENSG00000111305	ENST00000396302;ENST00000351606;ENST00000405543	T;T	0.38240	1.16;1.15	5.2	-0.697	0.11284	5.2	-0.697	0.11284	.	.	.	.	.	T	0.23210	0.0561	.	.	.	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.05550	-1.0878	8	0.36615	T	0.2	.	7.5868	0.27998	0.0:0.1412:0.4491:0.4097	.	270;270;234	Q2KHT4-7;G3XAB9;F1T0A0	.;.;.	N	234;270;231	ENSP00000379596:D234N;ENSP00000336857:D270N	ENSP00000336857:D270N	D	-	1	0	0	GSG1	13131415	13131415	0.994000	0.37717	0.994000	0.49952	0.812000	0.45895	0.278000	0.18753	0.004000	0.14682	-0.477000	0.04895	GAC	0.305622		TCGA-2J-AAB8-01A-12D-A40W-08	0.507	GSG1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316545.1	1	0	1		2	2	2	0		0	0	122		122	118	1	1.810000	-20.000000	1	0.270000	NM_031289			82	80		432	428	0		1			0	0	122	0		1.000000	0	0	0	0	0	0	82	432
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr12:25398285C>G	ENST00000256078.4	-	2	97	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R	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.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|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)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	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	1.000000	4.300000e-01	1.000000	5.600000e-01	0.720000	0.744243	0.720000	1.000000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	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)	5144	Substitution - Missense(5142)|Insertion - In frame(2)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	25349	GRCh37	CM076251	KRAS	M	rs121913530	c.(34-36)Ggt>Cgt		Kirsten rat sarcoma viral oncogene homolog							93.0	83.0	86.0					12																	25398285		2203	4300	6503	SO:0001583	missense	3845	0	0		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.chr12:25398285C>G	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.34G>C	chr12.hg19:g.25398285C>G	ENSP00000256078:p.Gly12Arg	1	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000311936.3_Missense_Mutation_p.G12R	p.G12R	NM_033360.2	NP_203524.1	2	2	4	2.151653	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	97	-	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.34G>C	CCDS8703.1	0	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930538	0.92389	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16	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	0.84893	0.5573	M	0.84082	2.675	0.80722	D	1	P;P	0.43287	0.802;0.741	B;P	0.47941	0.36;0.562	D	0.86658	0.1902	10	0.66056	D	0.02	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	R	12	ENSP00000308495:G12R;ENSP00000452512:G12R;ENSP00000256078:G12R;ENSP00000451856:G12R	ENSP00000256078:G12R	G	-	1	0	0	KRAS	25289552	25289552	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	0.305622		TCGA-2J-AAB8-01A-12D-A40W-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	0		0	0	73		73	69	1	1.810000	-7.949440	1	0.270000	NM_033360			18	17		188	185	0		1	1	1	0	0	73	321		0.999983	2.647824e-01	1	4	36	7	335	18	188
KRT71	112802	broad.mit.edu	37	12	52946543	52946543	+	Missense_Mutation	SNP	C	C	T	rs665522	byFrequency	TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr12:52946543C>T	ENST00000267119.5	-	1	388	c.319G>A	c.(319-321)Gtc>Atc	p.V107I		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	107	Head.		V -> I (in dbSNP:rs665522).		hair follicle morphogenesis (GO:0031069)|intermediate filament organization (GO:0045109)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		CTCTCATTGACGGTAACCTGG	0.617													C|||	1019	0.203474	0.3366	0.1556	5008	,	,		18020	0.0208		0.2286	False		,,,				2504	0.2198					ENST00000267119.5	1.000000	9.100000e-01	1.000000	9.900000e-01	0.990000	0.994994	0.990000	1.000000																										0				22						c.(319-321)Gtc>Atc		keratin 71		C	ILE/VAL	1323,3083	445.7+/-347.8	196,931,1076	94.0	88.0	90.0		319	3.0	0.7	12	dbSNP_83	90	2037,6563	355.0+/-329.7	250,1537,2513	yes	missense	KRT71	NM_033448.2	29	446,2468,3589	TT,TC,CC		23.686,30.0272,25.8342	benign	107/524	52946543	3360,9646	2203	4300	6503	SO:0001583	missense	112802	25482	121410	77				g.chr12:52946543C>T	AJ308600	CCDS8831.1	12q13.13	2013-01-16			ENSG00000139648	ENSG00000139648		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28927	protein-coding gene	gene with protein product		608245				11982755, 12648212, 16831889	Standard	NM_033448		Approved	KRT6IRS, KRT6IRS1, K6IRS1	uc001sao.3	Q3SY84	OTTHUMG00000167831	ENST00000267119.5:c.319G>A	chr12.hg19:g.52946543C>T	ENSP00000267119:p.Val107Ile	0						p.V107I	NM_033448.2	NP_258259.1	1	2	3	2.124965	Q3SY84	K2C71_HUMAN		1	388	-			B3KVC1|Q3SY85|Q96DU2	Missense_Mutation	SNP	ENST00000267119.5	1	0	hg19	c.319G>A	CCDS8831.1	1	383	0.17536630036630035	143	0.29065040650406504	60	0.16574585635359115	10	0.017482517482517484	170	0.22427440633245382	C	8.203	0.798579	0.16397	0.300272	0.23686	ENSG00000139648	ENST00000267119	T	0.76839	-1.05	4.82	3.0	0.34707	4.82	3.0	0.34707	.	0.000000	0.40728	N	0.001039	T	0.00012	0.0000	L	0.37697	1.125	0.36952	P	0.10709500000000005	B	0.26147	0.143	B	0.21360	0.034	T	0.07501	-1.0769	9	0.23891	T	0.37	.	8.1494	0.31132	0.0:0.6857:0.0:0.3143	rs665522;rs1621577;rs17730179;rs665522	107	Q3SY84	K2C71_HUMAN	I	107	ENSP00000267119:V107I	ENSP00000267119:V107I	V	-	1	0	0	KRT71	51232810	51232810	0.001000	0.12720	0.740000	0.30986	0.941000	0.58515	-0.112000	0.10791	0.579000	0.29504	-0.258000	0.10820	GTC	0.284489		TCGA-2J-AAB8-01A-12D-A40W-08	0.617	KRT71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396487.1	0	0	1		2	2	2	0		0	0	59		59	58	1	1.810000	-2.055756	0	0.270000	NM_033448			62	61		340	338	1		1			0	0	59	0		1.000000	0	0	0	0	0	0	62	340
HNRNPA1	3178	broad.mit.edu	37	12	54675182	54675182	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr12:54675182C>T	ENST00000340913.6	+	2	81	c.28C>T	c.(28-30)Ccc>Tcc	p.P10S	HNRNPA1_ENST00000547276.1_Missense_Mutation_p.P10S|CBX5_ENST00000209875.4_5'Flank|RP11-968A15.2_ENST00000547177.1_RNA|HNRNPA1_ENST00000546500.1_Missense_Mutation_p.P10S|RP11-968A15.8_ENST00000553061.1_RNA|HNRNPA1_ENST00000330752.8_Missense_Mutation_p.P10S	NM_002136.2|NM_031157.2	NP_002127.1|NP_112420.1	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	10	Globular A domain.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|nuclear export (GO:0051168)|nuclear import (GO:0051170)|RNA export from nucleus (GO:0006405)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						TCCTAAAGAGCCCGAACAGCT	0.488																																					Colon(83;502 1289 8436 16406 24870)	ENST00000340913.6	1.000000	8.000000e-01	1.000000	9.100000e-01	0.990000	0.971104	0.990000	1.000000																										0				20						c.(28-30)Ccc>Tcc		heterogeneous nuclear ribonucleoprotein A1							75.0	79.0	78.0					12																	54675182		1942	4176	6118	SO:0001583	missense	3178	0	0					g.chr12:54675182C>T	BC009600	CCDS41793.1, CCDS44909.1	12q13.1	2013-10-11		2007-08-16	ENSG00000135486	ENSG00000135486		"""RNA binding motif (RRM) containing"""	5031	protein-coding gene	gene with protein product		164017		HNRPA1		1733858	Standard	XR_245923		Approved	hnRNPA1, hnRNP-A1	uc001sfl.3	P09651		ENST00000340913.6:c.28C>T	chr12.hg19:g.54675182C>T	ENSP00000341826:p.Pro10Ser	0					CBX5_ENST00000209875.4_5'Flank|HNRNPA1_ENST00000546500.1_Missense_Mutation_p.P10S|RP11-968A15.8_ENST00000553061.1_RNA|RP11-968A15.2_ENST00000547177.1_RNA|HNRNPA1_ENST00000547276.1_Missense_Mutation_p.P10S|HNRNPA1_ENST00000330752.8_Missense_Mutation_p.P10S	p.P10S	NM_002136.2|NM_031157.2	NP_002127.1|NP_112420.1	1	2	3	2.124965	P09651	ROA1_HUMAN		2	81	+			A8K4Z8|Q3MIB7|Q6PJZ7	Missense_Mutation	SNP	ENST00000340913.6	1	1	hg19	c.28C>T	CCDS44909.1	1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701605	0.88924	.	.	ENSG00000135486	ENST00000546500;ENST00000547708;ENST00000547617;ENST00000552494;ENST00000340913;ENST00000330752;ENST00000552591;ENST00000551702;ENST00000551133;ENST00000547276;ENST00000548688	D;D;D;D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37;-2.37;-2.37;-2.37	4.43	4.43	0.53597	4.43	4.43	0.53597	.	0.000000	0.50627	D	0.000115	D	0.89167	0.6638	L	0.33189	0.99	0.54753	D	0.999987	D;D;P;B;D;D	0.58620	0.96;0.98;0.952;0.168;0.98;0.983	P;P;P;B;P;P	0.56278	0.575;0.716;0.575;0.191;0.716;0.795	D	0.90171	0.4235	10	0.59425	D	0.04	.	15.3753	0.74598	0.0:1.0:0.0:0.0	.	10;10;10;10;10;10	F8VRQ1;F8W6I7;F8VSB5;P09651-3;P09651-2;P09651	.;.;.;.;.;ROA1_HUMAN	S	10;10;10;10;10;10;10;10;10;10;29	ENSP00000448617:P10S;ENSP00000448229:P10S;ENSP00000341826:P10S;ENSP00000333504:P10S;ENSP00000448117:P10S;ENSP00000447260:P10S;ENSP00000447782:P29S	ENSP00000333504:P10S	P	+	1	0	0	HNRNPA1	52961449	52961449	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.705000	0.84606	2.407000	0.81776	0.491000	0.48974	CCC	0.284489		TCGA-2J-AAB8-01A-12D-A40W-08	0.488	HNRNPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405480.1	1	0	1		2	2	2	0		0	0	90		90	88	1	1.810000	-19.999980	1	0.270000	NM_031157			58	57		367	362	1		1	1		0	0	90	0		1.000000	1	0	181	0	487	0	58	367
ITGA7	3679	broad.mit.edu	37	12	56086734	56086734	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr12:56086734C>T	ENST00000555728.1	-	22	2898	c.2870G>A	c.(2869-2871)cGg>cAg	p.R957Q	ITGA7_ENST00000452168.2_Missense_Mutation_p.R820Q|ITGA7_ENST00000257879.6_Missense_Mutation_p.R913Q|ITGA7_ENST00000394229.2_Missense_Mutation_p.R913Q|ITGA7_ENST00000257880.7_Missense_Mutation_p.R957Q|ITGA7_ENST00000553804.1_Missense_Mutation_p.R917Q|ITGA7_ENST00000394230.2_Missense_Mutation_p.R917Q|ITGA7_ENST00000347027.6_Missense_Mutation_p.R907Q			Q13683	ITA7_HUMAN	integrin, alpha 7	957	Poly-Arg.				blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CAGCTCCCGCCGCCTCCTATC	0.597																																						ENST00000555728.1	1.000000	3.800000e-01	0.900000	5.000000e-01	0.650000	0.684621	0.650000	0.620000																										0				50						c.(2869-2871)cGg>cAg		integrin, alpha 7							43.0	42.0	42.0					12																	56086734		2203	4300	6503	SO:0001583	missense	3679	3	121412	37				g.chr12:56086734C>T		CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.2870G>A	chr12.hg19:g.56086734C>T	ENSP00000452387:p.Arg957Gln	0					ITGA7_ENST00000452168.2_Missense_Mutation_p.R820Q|ITGA7_ENST00000394229.2_Missense_Mutation_p.R913Q|ITGA7_ENST00000553804.1_Missense_Mutation_p.R917Q|ITGA7_ENST00000347027.6_Missense_Mutation_p.R907Q|ITGA7_ENST00000257880.7_Missense_Mutation_p.R957Q|ITGA7_ENST00000257879.6_Missense_Mutation_p.R913Q|ITGA7_ENST00000394230.2_Missense_Mutation_p.R917Q	p.R957Q			1	2	3	2.124965	Q13683	ITA7_HUMAN		22	2898	-			B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Missense_Mutation	SNP	ENST00000555728.1	1	1	hg19	c.2870G>A		0	.	.	.	.	.	.	.	.	.	.	C	31	5.096296	0.94197	.	.	ENSG00000135424	ENST00000553804;ENST00000257879;ENST00000347027;ENST00000452168;ENST00000257880;ENST00000394230;ENST00000394229;ENST00000353687;ENST00000555728	T;T;T;T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89;0.89;0.89;0.89	5.17	5.17	0.71159	5.17	5.17	0.71159	Integrin alpha-2 (1);	0.262756	0.29861	N	0.011019	T	0.57169	0.2035	M	0.72353	2.195	0.34499	D	0.705846	D;P;D;D	0.60160	0.963;0.948;0.969;0.987	P;P;P;P	0.56612	0.745;0.768;0.802;0.776	T	0.69709	-0.5072	10	0.56958	D	0.05	.	14.1032	0.65070	0.0:1.0:0.0:0.0	.	820;957;917;976	Q13683-13;Q13683;Q13683-3;Q4LE35	.;ITA7_HUMAN;.;.	Q	917;913;907;820;957;917;913;786;957	ENSP00000452120:R917Q;ENSP00000257879:R913Q;ENSP00000343009:R907Q;ENSP00000393844:R820Q;ENSP00000257880:R957Q;ENSP00000377777:R917Q;ENSP00000377776:R913Q;ENSP00000452387:R957Q	ENSP00000257879:R913Q	R	-	2	0	0	ITGA7	54373001	54373001	0.899000	0.30636	1.000000	0.80357	0.989000	0.77384	1.504000	0.35726	2.706000	0.92434	0.585000	0.79938	CGG	0.284489		TCGA-2J-AAB8-01A-12D-A40W-08	0.597	ITGA7-014	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000410138.1	1	0	1		2	2	2	0		0	0	23		23	22	1	1.810000	-3.142732	1	0.270000	NM_002206			17	17		190	186	0		1	0		0	0	23	0		0.999967	1.806042e-01	0	0	0	9	0	17	190
GPR133	283383	broad.mit.edu	37	12	131471825	131471825	+	Missense_Mutation	SNP	G	G	T	rs377562590		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr12:131471825G>T	ENST00000261654.5	+	6	1235	c.676G>T	c.(676-678)Gat>Tat	p.D226Y	RP11-76C10.5_ENST00000542980.1_lincRNA|GPR133_ENST00000535015.1_Missense_Mutation_p.D258Y	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	226					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CGGTGCTTTCGATGAGTTCAT	0.542																																						ENST00000261654.5	0.260000	7.000000e-02	0.210000	1.000000e-01	0.140000	0.160273	0.140000	0.150000																										0				67						c.(676-678)Gat>Tat		G protein-coupled receptor 133							153.0	142.0	146.0					12																	131471825		2203	4300	6503	SO:0001583	missense	283383	0	0					g.chr12:131471825G>T	AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.676G>T	chr12.hg19:g.131471825G>T	ENSP00000261654:p.Asp226Tyr	1					RP11-76C10.5_ENST00000542980.1_lincRNA|GPR133_ENST00000535015.1_Missense_Mutation_p.D258Y	p.D226Y	NM_198827.3	NP_942122.2	0	1	1	1.830850	Q6QNK2	GP133_HUMAN		6	1235	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)		B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	ENST00000261654.5	1	1	hg19	c.676G>T	CCDS9272.1	0	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355239	0.61293	.	.	ENSG00000111452	ENST00000261654;ENST00000542091;ENST00000535015	D;D;D	0.82803	-1.65;-1.65;-1.65	4.46	4.46	0.54185	4.46	4.46	0.54185	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	D	0.92688	0.7676	M	0.91818	3.245	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94367	0.7592	10	0.66056	D	0.02	.	16.1186	0.81325	0.0:0.0:1.0:0.0	.	258;226	B7ZLF7;Q6QNK2	.;GP133_HUMAN	Y	226;166;258	ENSP00000261654:D226Y;ENSP00000442501:D166Y;ENSP00000444425:D258Y	ENSP00000261654:D226Y	D	+	1	0	0	GPR133	130037778	130037778	1.000000	0.71417	0.280000	0.24747	0.426000	0.31534	8.703000	0.91344	2.024000	0.59613	0.591000	0.81541	GAT	0.161305		TCGA-2J-AAB8-01A-12D-A40W-08	0.542	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399356.1	0	0	1		2	2	2	0		0	0	90		90	89	1	1.810000	-2.683534	1	0.270000	NM_198827			9	8		386	378	0		1	0		0	0	90	0		0.993714	6.961761e-04	0	0	0	2	0	9	386
LATS2	26524	broad.mit.edu	37	13	21562295	21562296	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr13:21562295_21562296GC>TT	ENST00000382592.4	-	4	2028_2029	c.1623_1624GC>AA	c.(1621-1626)gaGCag>gaAAag	p.Q542K	LATS2_ENST00000472754.1_5'Flank|LATS2_ENST00000542899.1_Missense_Mutation_p.Q542K	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2											breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CGGAGGCTCTGCTCCATGCCTG	0.658																																						ENST00000382592.4	1.000000	7.300000e-01|7.700000e-01	1.000000	8.600000e-01|9.000000e-01	0.990000	0.951615|0.966245	0.990000	1.000000																										0				45						c.(1624-1626)Cag>Aag|c.(1621-1623)gaG>gaA		large tumor suppressor kinase 2																																				SO:0001583	missense	26524	0|2	0|121390	|35				g.chr13:21562295G>T|g.chr13:21562296C>T	AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"""LATS (large tumor suppressor, Drosophila) homolog 2"", ""LATS, large tumor suppressor, homolog 2 (Drosophila)"""			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.1623_1624delinsTT	chr13.hg19:g.21562295_21562296delinsTT	ENSP00000372035:p.Gln542Lys	1					LATS2_ENST00000472754.1_5'Flank|LATS2_ENST00000542899.1_Missense_Mutation_p.Q542K|LATS2_ENST00000472754.1_5'Flank|LATS2_ENST00000542899.1_Silent_p.E541E	p.Q542K|p.E541E	NM_014572.2	NP_055387.2	1	2	3	2.232580				4	2029|2028	-		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		Missense_Mutation|Silent	SNP	ENST00000382592.4	1	1	hg19	c.1624C>A|c.1623G>A	CCDS9294.1	1																									5.12|	5.12|	0.69794|																																												0|			20460295|														0.325542		TCGA-2J-AAB8-01A-12D-A40W-08	0.658	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1	1	0	1		2	2	2	0		0	0	65		67|65	64|62	1	1.810000	-20.000000	1	0.270000				42|44	42|44		303	296	0		1	0		0	0	67|65	0		1.000000	2.608791e-01|3.265337e-01	0	0	0	8|9	0	42	303
TJP1	7082	broad.mit.edu	37	15	30020212	30020212	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr15:30020212G>A	ENST00000346128.6	-	16	2503	c.2029C>T	c.(2029-2031)Cga>Tga	p.R677*	TJP1_ENST00000545208.2_Nonsense_Mutation_p.R677*|TJP1_ENST00000356107.6_Nonsense_Mutation_p.R677*|RP11-680F8.4_ENST00000560740.1_RNA|TJP1_ENST00000400011.2_Nonsense_Mutation_p.R681*	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	677	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				apoptotic process (GO:0006915)|blastocyst formation (GO:0001825)|cell-cell junction assembly (GO:0007043)|cell-cell signaling involved in cell-cell junction organization (GO:1901350)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to glucose stimulus (GO:0071333)|hippo signaling (GO:0035329)|membrane organization (GO:0061024)|negative regulation of vascular permeability (GO:0043116)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to magnetism (GO:0071000)|sensory perception of sound (GO:0007605)	apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gap junction (GO:0005921)|intercalated disc (GO:0014704)|intercellular canaliculus (GO:0046581)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CCAGCGTCTCGTGGTTCACTC	0.393																																					Melanoma(77;681 1843 6309 6570)	ENST00000346128.6	1.000000	5.600000e-01	0.960000	6.700000e-01	0.800000	0.812378	0.800000	1.000000																										0				68						c.(2029-2031)Cga>Tga		tight junction protein 1							115.0	109.0	111.0					15																	30020212		1895	4137	6032	SO:0001587	stop_gained	7082	0	0					g.chr15:30020212G>A		CCDS42007.1, CCDS45199.1, CCDS73702.1	15q13	2012-07-12	2012-07-12		ENSG00000104067	ENSG00000104067			11827	protein-coding gene	gene with protein product	"""zona occludens 1"", ""tight junction protein ZO-1"""	601009				8825647	Standard	XM_005254616		Approved	ZO-1, MGC133289, DKFZp686M05161	uc001zcr.3	Q07157	OTTHUMG00000137397	ENST00000346128.6:c.2029C>T	chr15.hg19:g.30020212G>A	ENSP00000281537:p.Arg677*	0					TJP1_ENST00000356107.6_Nonsense_Mutation_p.R677*|TJP1_ENST00000545208.2_Nonsense_Mutation_p.R677*|RP11-680F8.4_ENST00000560740.1_RNA|TJP1_ENST00000400011.2_Nonsense_Mutation_p.R681*	p.R677*	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	1	2	3	2.057332	Q07157	ZO1_HUMAN		16	2503	-		all_lung(180;7.48e-11)|Breast(32;0.000153)	B4E3K1|Q2NKP3|Q4ZGJ6	Nonsense_Mutation	SNP	ENST00000346128.6	0	1	hg19	c.2029C>T	CCDS42007.1	0	.	.	.	.	.	.	.	.	.	.	G	38	7.086799	0.98055	.	.	ENSG00000104067	ENST00000346128;ENST00000400011;ENST00000545208;ENST00000400007;ENST00000356107	.	.	.	5.42	3.2	0.36748	5.42	3.2	0.36748	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9192	0.52783	0.0:0.0:0.419:0.581	.	.	.	.	X	677;681;677;677;677	.	.	R	-	1	2	2	TJP1	27807504	27807504	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.681000	0.61663	1.366000	0.46076	0.655000	0.94253	CGA	0.271966		TCGA-2J-AAB8-01A-12D-A40W-08	0.393	TJP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268237.3	0	0	1		14	3	2	1		1	1	71		71	71	1	1.810000	-3.075765	1	0.270000	NM_003257			31	31		255	255	1		1	1		1	0	71	0		0.997561	3.238952e-01	0	3	0	15	0	31	255
ATP8B4	79895	broad.mit.edu	37	15	50223420	50223420	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr15:50223420C>T	ENST00000284509.6	-	16	1679	c.1538G>A	c.(1537-1539)cGg>cAg	p.R513Q	ATP8B4_ENST00000559829.1_Missense_Mutation_p.R513Q	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	513						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CTCTGGGGTCCGGGATTTAAA	0.398																																						ENST00000284509.6	1.000000	6.500000e-01	1.000000	7.600000e-01	0.890000	0.883329	0.890000	1.000000																										0				73						c.(1537-1539)cGg>cAg		ATPase, class I, type 8B, member 4							118.0	121.0	120.0					15																	50223420		2196	4295	6491	SO:0001583	missense	79895	0	0					g.chr15:50223420C>T	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.1538G>A	chr15.hg19:g.50223420C>T	ENSP00000284509:p.Arg513Gln	0					ATP8B4_ENST00000559829.1_Missense_Mutation_p.R513Q	p.R513Q	NM_024837.2	NP_079113.2	1	2	3	2.061404	Q8TF62	AT8B4_HUMAN		16	1679	-		all_lung(180;0.00183)	Q9H727	Missense_Mutation	SNP	ENST00000284509.6	1	1	hg19	c.1538G>A	CCDS32238.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.454782	0.96223	.	.	ENSG00000104043	ENST00000284509	T	0.72505	-0.66	5.61	5.61	0.85477	5.61	5.61	0.85477	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.87233	0.6126	M	0.90082	3.085	0.58432	D	0.999995	D	0.89917	1.0	D	0.97110	1.0	D	0.89451	0.3730	10	0.87932	D	0	.	17.1302	0.86724	0.0:1.0:0.0:0.0	.	513	Q8TF62	AT8B4_HUMAN	Q	513	ENSP00000284509:R513Q	ENSP00000284509:R513Q	R	-	2	0	0	ATP8B4	48010712	48010712	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.532000	0.81985	2.648000	0.89879	0.585000	0.79938	CGG	0.271966		TCGA-2J-AAB8-01A-12D-A40W-08	0.398	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	1	0	1		2	2	2	0		0	0	69		69	68	1	1.810000	-3.075779	1	0.270000	NM_024837			41	41		301	298	1		1	0		0	0	69	0		1.000000	0	0	0	0	1	0	41	301
HCN4	10021	broad.mit.edu	37	15	73616169	73616169	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr15:73616169G>T	ENST00000261917.3	-	8	3258	c.2265C>A	c.(2263-2265)tgC>tgA	p.C755*		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	755					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CGCGGTGCGCGCAGTGGGCCA	0.637																																						ENST00000261917.3	1.000000	8.500000e-01	1.000000	9.900000e-01	0.990000	0.987738	0.990000	1.000000																										0				55						c.(2263-2265)tgC>tgA		hyperpolarization activated cyclic nucleotide-gated potassium channel 4							49.0	55.0	53.0					15																	73616169		2198	4297	6495	SO:0001587	stop_gained	10021	0	0					g.chr15:73616169G>T	AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.2265C>A	chr15.hg19:g.73616169G>T	ENSP00000261917:p.Cys755*	0						p.C755*	NM_005477.2	NP_005468.1	1	2	3	2.061404	Q9Y3Q4	HCN4_HUMAN		8	3258	-			Q9UMQ7	Nonsense_Mutation	SNP	ENST00000261917.3	0	1	hg19	c.2265C>A	CCDS10248.1	1	.	.	.	.	.	.	.	.	.	.	G	43	10.237229	0.99366	.	.	ENSG00000138622	ENST00000261917	.	.	.	3.45	-4.57	0.03421	3.45	-4.57	0.03421	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	5.844	0.18652	0.4255:0.0:0.4383:0.1362	.	.	.	.	X	755	.	ENSP00000261917:C755X	C	-	3	2	2	HCN4	71403222	71403222	0.001000	0.12720	0.425000	0.26659	0.252000	0.25951	-1.587000	0.02108	-1.258000	0.02471	0.305000	0.20034	TGC	0.271966		TCGA-2J-AAB8-01A-12D-A40W-08	0.637	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268900.2	1	0	1		2	2	2	0		0	0	44		44	43	1	1.810000	-3.345269	1	0.270000	NM_005477			36	36		192	189	1		1			0	0	44	0		1.000000	0	0	0	0	0	0	36	192
UMOD	7369	broad.mit.edu	37	16	20355441	20355441	+	Silent	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr16:20355441G>A	ENST00000570689.1	-	6	1382	c.1236C>T	c.(1234-1236)atC>atT	p.I412I	UMOD_ENST00000302509.4_Silent_p.I412I|UMOD_ENST00000396134.2_Silent_p.I445I|UMOD_ENST00000570331.1_5'Flank|UMOD_ENST00000396142.2_Silent_p.I412I|UMOD_ENST00000396138.4_Silent_p.I461I|UMOD_ENST00000424589.1_Silent_p.I445I			P07911	UROM_HUMAN	uromodulin	412	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				cellular defense response (GO:0006968)|chemical homeostasis (GO:0048878)|excretion (GO:0007588)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte cell-cell adhesion (GO:0007159)|metanephric ascending thin limb development (GO:0072218)|metanephric distal convoluted tubule development (GO:0072221)|metanephric thick ascending limb development (GO:0072233)|negative regulation of cell proliferation (GO:0008285)|neutrophil migration (GO:1990266)|regulation of ion homeostasis (GO:2000021)|response to organic substance (GO:0010033)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|primary cilium (GO:0072372)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|IgG binding (GO:0019864)			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CACGGATGATGATCTCATCTG	0.537																																						ENST00000570689.1	1.000000	3.100000e-01	0.710000	4.000000e-01	0.520000	0.568936	0.520000	0.490000																										0				41						c.(1234-1236)atC>atT		uromodulin							174.0	145.0	155.0					16																	20355441		2203	4300	6503	SO:0001819	synonymous_variant	7369	0	0					g.chr16:20355441G>A	M17778	CCDS10583.1, CCDS61876.1	16p12.3	2008-06-23	2008-06-23		ENSG00000169344	ENSG00000169344			12559	protein-coding gene	gene with protein product	"""Tamm-Horsfall glycoprotein"", ""uromucoid"""	191845	"""uromodulin (uromucoid, Tamm-Horsfall glycoprotein)"""			8382593	Standard	NM_003361		Approved		uc002dha.3	P07911	OTTHUMG00000131488	ENST00000570689.1:c.1236C>T	chr16.hg19:g.20355441G>A		0					UMOD_ENST00000396134.2_Silent_p.I445I|UMOD_ENST00000570331.1_5'Flank|UMOD_ENST00000396142.2_Silent_p.I412I|UMOD_ENST00000396138.4_Silent_p.I461I|UMOD_ENST00000424589.1_Silent_p.I445I|UMOD_ENST00000302509.4_Silent_p.I412I	p.I412I			1	2	3	2.123221	P07911	UROM_HUMAN		6	1382	-			B3KP48|B3KRN9|E9PEA4|Q540J6|Q6ZS84|Q8IYG0	Silent	SNP	ENST00000570689.1	1	1	hg19	c.1236C>T	CCDS10583.1	0																																																																																								0.283541		TCGA-2J-AAB8-01A-12D-A40W-08	0.537	UMOD-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436862.1	1	0	1		2	2	2	0		0	0	55		55	54	1	1.810000	-3.318794	1	0.270000				18	17		256	255	0		1			0	0	55	0		0.999983	0	0	0	0	0	0	18	256
SRCAP	10847	broad.mit.edu	37	16	30723277	30723277	+	Missense_Mutation	SNP	C	C	G	rs374756213		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr16:30723277C>G	ENST00000262518.4	+	12	1999	c.1614C>G	c.(1612-1614)agC>agG	p.S538R	SRCAP_ENST00000344771.4_Missense_Mutation_p.S538R|SNORA30_ENST00000384028.1_RNA|SRCAP_ENST00000395059.2_Missense_Mutation_p.S538R	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	538	Glu-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AATCACAGAGCCAAGCAGATG	0.498																																						ENST00000262518.4	1.000000	5.700000e-01	0.990000	6.800000e-01	0.810000	0.823192	0.810000	1.000000																										0				136						c.(1612-1614)agC>agG		Snf2-related CREBBP activator protein							94.0	93.0	93.0					16																	30723277		2197	4300	6497	SO:0001583	missense	10847	0	0					g.chr16:30723277C>G	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.1614C>G	chr16.hg19:g.30723277C>G	ENSP00000262518:p.Ser538Arg	0					SNORA30_ENST00000384028.1_RNA|SRCAP_ENST00000344771.4_Missense_Mutation_p.S538R|SRCAP_ENST00000395059.2_Missense_Mutation_p.S538R	p.S538R	NM_006662.2	NP_006653.2	1	2	3	2.093897	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)	12	1999	+			B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	1	1	hg19	c.1614C>G	CCDS10689.2	0	.	.	.	.	.	.	.	.	.	.	C	7.096	0.573060	0.13623	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.91237	-2.81;-2.79;-2.79	4.74	3.79	0.43588	4.74	3.79	0.43588	.	0.097043	0.46442	D	0.000291	D	0.83078	0.5176	L	0.36672	1.1	0.28350	N	0.920921	P;P;P	0.37276	0.589;0.589;0.454	B;B;B	0.33454	0.108;0.164;0.079	T	0.74934	-0.3495	10	0.25751	T	0.34	-10.7481	10.4907	0.44750	0.0:0.9073:0.0:0.0927	.	538;538;538	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	R	538	ENSP00000262518:S538R;ENSP00000378499:S538R;ENSP00000343042:S538R	ENSP00000262518:S538R	S	+	3	2	2	SRCAP	30630778	30630778	0.997000	0.39634	1.000000	0.80357	0.863000	0.49368	0.795000	0.26972	1.355000	0.45865	0.563000	0.77884	AGC	0.278763		TCGA-2J-AAB8-01A-12D-A40W-08	0.498	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	1	0	1		2	2	2	0		0	0	42		42	42	1	1.810000	-12.847140	1	0.270000	NM_006662			33	33		275	274	1		1	0		0	0	42	0		1.000000	3.015895e-01	0	1	0	9	0	33	275
MARVELD3	91862	broad.mit.edu	37	16	71674725	71674725	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr16:71674725G>A	ENST00000299952.4	+	3	1071	c.1028G>A	c.(1027-1029)cGc>cAc	p.R343H	MARVELD3_ENST00000561682.1_Intron|PHLPP2_ENST00000540628.1_3'UTR|MARVELD3_ENST00000565261.1_3'UTR	NM_001017967.3|NM_001271329.1	NP_001017967.2|NP_001258258.1	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	346	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|tight junction (GO:0005923)				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				CTCTATGCCCGCAAGGGTCTC	0.587																																						ENST00000299952.4	1.000000	5.000000e-02	0.260000	9.000000e-02	0.150000	0.231663	0.150000	0.140000																										0				17						c.(1027-1029)cGc>cAc		MARVEL domain containing 3							65.0	60.0	62.0					16																	71674725		2198	4300	6498	SO:0001583	missense	91862	1	121412	26				g.chr16:71674725G>A	BC013376	CCDS10904.1, CCDS32478.1, CCDS59270.1	16q22.2	2008-02-05	2004-07-12	2004-07-14	ENSG00000140832	ENSG00000140832			30525	protein-coding gene	gene with protein product		614094	"""MARVEL (membrane-associating) domain containing 3"""	MRVLDC3			Standard	NM_001017967		Approved		uc002fat.4	Q96A59	OTTHUMG00000137591	ENST00000299952.4:c.1028G>A	chr16.hg19:g.71674725G>A	ENSP00000299952:p.Arg343His	0					MARVELD3_ENST00000561682.1_Intron|PHLPP2_ENST00000540628.1_3'UTR|MARVELD3_ENST00000565261.1_3'UTR	p.R343H	NM_001017967.3|NM_001271329.1	NP_001017967.2|NP_001258258.1	1	2	3	2.099584	Q96A59	MALD3_HUMAN		3	1071	+		Ovarian(137;0.125)	A8K820|H3BQM5|Q96MJ4	Missense_Mutation	SNP	ENST00000299952.4	0	1	hg19	c.1028G>A	CCDS32478.1	0	.	.	.	.	.	.	.	.	.	.	G	32	5.120380	0.94385	.	.	ENSG00000140832	ENST00000299952	D	0.86865	-2.18	5.79	5.79	0.91817	5.79	5.79	0.91817	.	0.096682	0.64402	D	0.000001	D	0.93288	0.7861	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.69824	0.966	D	0.93287	0.6665	9	0.59425	D	0.04	-23.7209	17.535	0.87827	0.0:0.0:1.0:0.0	.	343	Q96A59-2	.	H	343	ENSP00000299952:R343H	ENSP00000299952:R343H	R	+	2	0	0	MARVELD3	70232226	70232226	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	6.861000	0.75478	2.739000	0.93911	0.655000	0.94253	CGC	0.279724		TCGA-2J-AAB8-01A-12D-A40W-08	0.587	MARVELD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268990.1	0	0	1		2	2	2	0		0	0	60		60	60	1	1.810000	-2.838471	1	0.270000	NM_052858			5	5		265	262	0		1	0		0	0	60	0		0.936269	5.788246e-02	0	0	0	17	0	5	265
RPA1	6117	broad.mit.edu	37	17	1792037	1792037	+	Silent	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr17:1792037C>T	ENST00000254719.5	+	14	1553	c.1443C>T	c.(1441-1443)tgC>tgT	p.C481C		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	481					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of cell proliferation (GO:0008284)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|DNA replication factor A complex (GO:0005662)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|single-stranded DNA binding (GO:0003697)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						ACCAAGCCTGCCCGACTCAGG	0.483								Nucleotide excision repair (NER)																														ENST00000254719.5	0.210000	3.000000e-02	0.160000	6.000000e-02	0.100000	0.112894	0.100000	0.100000																										0				10						c.(1441-1443)tgC>tgT	Nucleotide excision repair (NER)	replication protein A1, 70kDa							132.0	111.0	118.0					17																	1792037		2203	4300	6503	SO:0001819	synonymous_variant	6117	0	0					g.chr17:1792037C>T	M63488	CCDS11014.1	17p13.3	2008-02-05	2002-08-29		ENSG00000132383	ENSG00000132383			10289	protein-coding gene	gene with protein product		179835	"""replication protein A1 (70kD)"""			8454588	Standard	NM_002945		Approved	REPA1, RPA70, HSSB, RF-A, RP-A	uc002fto.2	P27694	OTTHUMG00000090579	ENST00000254719.5:c.1443C>T	chr17.hg19:g.1792037C>T		1						p.C481C	NM_002945.3	NP_002936.1	0	1	1	1.819173	P27694	RFA1_HUMAN		14	1553	+			A8K0Y9|Q59ES9	Silent	SNP	ENST00000254719.5	0	1	hg19	c.1443C>T	CCDS11014.1	0																																																																																								0.156069		TCGA-2J-AAB8-01A-12D-A40W-08	0.483	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207118.2	0	0	1		2	2	2	0		0	0	71		71	68	1	1.810000	-3.002491	1	0.270000	NM_002945			5	5		328	325	0		1	0		0	0	71	0		0.936504	2.465291e-01	0	0	0	53	0	5	328
IGFBP4	3487	broad.mit.edu	37	17	38609333	38609333	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr17:38609333G>A	ENST00000269593.4	+	2	721	c.446G>A	c.(445-447)cGg>cAg	p.R149Q	IGFBP4_ENST00000542955.1_Missense_Mutation_p.R49Q	NM_001552.2	NP_001543.2	P22692	IBP4_HUMAN	insulin-like growth factor binding protein 4	149					cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|DNA metabolic process (GO:0006259)|inflammatory response (GO:0006954)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of MAPK cascade (GO:0043410)|regulation of cell growth (GO:0001558)|regulation of glucose metabolic process (GO:0010906)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|type B pancreatic cell proliferation (GO:0044342)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			ATTCGAGACCGGAGCACCAGT	0.602																																					GBM(160;940 3581 26177)	ENST00000269593.4	0.340000	5.000000e-02	0.250000	9.000000e-02	0.160000	0.177768	0.160000	0.140000																										0				5						c.(445-447)cGg>cAg		insulin-like growth factor binding protein 4							76.0	71.0	73.0					17																	38609333		2203	4300	6503	SO:0001583	missense	3487	0	0					g.chr17:38609333G>A	M38177	CCDS11367.1	17q21.2	2014-09-16	2001-11-28		ENSG00000141753	ENSG00000141753			5473	protein-coding gene	gene with protein product	"""IGF-binding protein 4"""	146733	"""insulin-like growth factor-binding protein 4"""			1707125, 1704481	Standard	NM_001552		Approved	IBP4, BP-4, HT29-IGFBP, IGFBP-4	uc002hus.3	P22692	OTTHUMG00000133326	ENST00000269593.4:c.446G>A	chr17.hg19:g.38609333G>A	ENSP00000269593:p.Arg149Gln	0					IGFBP4_ENST00000542955.1_Missense_Mutation_p.R49Q	p.R149Q	NM_001552.2	NP_001543.2	0	1	1	2.046865	P22692	IBP4_HUMAN	STAD - Stomach adenocarcinoma(5;5.91e-05)	2	721	+		Breast(137;0.000496)	A0N9W2|B4E351|Q5U012|Q9UCL6	Missense_Mutation	SNP	ENST00000269593.4	0	1	hg19	c.446G>A	CCDS11367.1	0	.	.	.	.	.	.	.	.	.	.	G	14.76	2.632840	0.47049	.	.	ENSG00000141753	ENST00000542955;ENST00000269593	T;T	0.26223	1.75;2.1	5.92	4.88	0.63580	5.92	4.88	0.63580	Thyroglobulin type-1 (1);	0.660269	0.15633	N	0.252297	T	0.18383	0.0441	N	0.19112	0.55	0.33413	D	0.578843	B	0.24043	0.096	B	0.09377	0.004	T	0.09840	-1.0656	10	0.35671	T	0.21	-4.9399	15.905	0.79419	0.0:0.0:0.8563:0.1437	.	149	P22692	IBP4_HUMAN	Q	49;149	ENSP00000437734:R49Q;ENSP00000269593:R149Q	ENSP00000269593:R149Q	R	+	2	0	0	IGFBP4	35862859	35862859	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.924000	0.48876	2.818000	0.97014	0.655000	0.94253	CGG	0.268024		TCGA-2J-AAB8-01A-12D-A40W-08	0.602	IGFBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257134.1	0	0	1		2	2	2	0		0	0	29		29	28	1	1.810000	-3.587982	1	0.270000	NM_001552			4	4		199	197	0		1	0		0	0	29	0		0.888876	9.978706e-01	0	0	0	750	0	4	199
PITPNM3	83394	broad.mit.edu	37	17	6428759	6428759	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr17:6428759G>A	ENST00000262483.8	-	3	230	c.143C>T	c.(142-144)gCc>gTc	p.A48V	PITPNM3_ENST00000421306.3_Intron	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	48					phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		AATGAGGATGGCATTCTTCCC	0.542																																						ENST00000262483.8	0.200000	4.000000e-02	0.150000	6.000000e-02	0.100000	0.113112	0.100000	0.100000																										0				36						c.(142-144)gCc>gTc		PITPNM family member 3							207.0	148.0	168.0					17																	6428759		2203	4300	6503	SO:0001583	missense	83394	0	0					g.chr17:6428759G>A	AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"""GPCR / Class A : Chemokine receptors : Atypical"""	21043	protein-coding gene	gene with protein product	"""atypical chemokine receptor 6"""	608921	"""cone rod dystrophy 5"""	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.143C>T	chr17.hg19:g.6428759G>A	ENSP00000262483:p.Ala48Val	1					PITPNM3_ENST00000421306.3_Intron	p.A48V	NM_031220.3	NP_112497.2	0	1	1	1.819173	Q9BZ71	PITM3_HUMAN		3	230	-			A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Missense_Mutation	SNP	ENST00000262483.8	0	1	hg19	c.143C>T	CCDS11076.1	0	.	.	.	.	.	.	.	.	.	.	G	9.783	1.175926	0.21704	.	.	ENSG00000091622	ENST00000262483	T	0.19806	2.12	4.67	4.67	0.58626	4.67	4.67	0.58626	.	0.121347	0.53938	D	0.000043	T	0.32133	0.0819	L	0.34521	1.04	0.41624	D	0.988988	D	0.89917	1.0	D	0.83275	0.996	T	0.02371	-1.1169	10	0.10636	T	0.68	.	15.866	0.79067	0.0:0.0:1.0:0.0	.	48	Q9BZ71	PITM3_HUMAN	V	48	ENSP00000262483:A48V	ENSP00000262483:A48V	A	-	2	0	0	PITPNM3	6369483	6369483	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.935000	0.87658	2.538000	0.85594	0.460000	0.39030	GCC	0.156069		TCGA-2J-AAB8-01A-12D-A40W-08	0.542	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219824.2	0	0	1		2	2	2	0		0	0	114		114	112	1	1.810000	-2.614401	1	0.270000	NM_031220			6	6		383	378	0		1	0		0	0	114	0		0.963841	1.079356e-03	0	0	0	3	0	6	383
DLG4	1742	broad.mit.edu	37	17	7099798	7099798	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr17:7099798G>C	ENST00000399506.2	-	10	1371	c.1180C>G	c.(1180-1182)Cca>Gca	p.P394A	DLG4_ENST00000302955.6_Missense_Mutation_p.P391A|DLG4_ENST00000399510.2_Missense_Mutation_p.P437A			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	394					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	GTACCTTCTGGTTTATACTGA	0.547																																						ENST00000399506.2	1.000000	7.100000e-01	0.980000	8.100000e-01	0.910000	0.900550	0.910000	0.990000																										0				18						c.(1180-1182)Cca>Gca		discs, large homolog 4 (Drosophila)	Guanidine(DB00536)						70.0	67.0	68.0					17																	7099798		2077	4198	6275	SO:0001583	missense	1742	0	0					g.chr17:7099798G>C	U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.1180C>G	chr17.hg19:g.7099798G>C	ENSP00000382425:p.Pro394Ala	1					DLG4_ENST00000399510.2_Missense_Mutation_p.P437A|DLG4_ENST00000302955.6_Missense_Mutation_p.P391A	p.P394A			0	1	1	1.819173	P78352	DLG4_HUMAN		10	1371	-			B7Z1S1|G5E939|Q92941|Q9UKK8	Missense_Mutation	SNP	ENST00000399506.2	1	1	hg19	c.1180C>G		1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.552948	0.65425	.	.	ENSG00000132535	ENST00000399506;ENST00000302955;ENST00000399510;ENST00000293813;ENST00000380912;ENST00000539674	T;T;T	0.53857	0.6;0.6;0.6	4.28	4.28	0.50868	4.28	4.28	0.50868	PDZ/DHR/GLGF (3);	.	.	.	.	T	0.69708	0.3141	M	0.72353	2.195	0.80722	D	1	D;D;P;P	0.76494	0.999;0.999;0.77;0.914	D;D;P;P	0.71656	0.953;0.974;0.632;0.698	T	0.74375	-0.3686	9	0.87932	D	0	.	14.277	0.66187	0.0:0.0:1.0:0.0	.	434;394;391;437	B9EGL1;P78352;G5E939;P78352-2	.;DLG4_HUMAN;.;.	A	394;391;437;437;334;437	ENSP00000382425:P394A;ENSP00000307471:P391A;ENSP00000382428:P437A	ENSP00000293813:P437A	P	-	1	0	0	DLG4	7040522	7040522	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.219000	0.78000	2.210000	0.71456	0.563000	0.77884	CCA	0.156069		TCGA-2J-AAB8-01A-12D-A40W-08	0.547	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000259419.2	1	0	1		2	2	2	0		0	0	64		64	63	1	1.810000	-20.000000	1	0.270000	NM_001365			38	37		195	194	1		1	0		0	0	64	0		1.000000	5.619105e-01	0	1	0	10	0	38	195
MAPT	4137	broad.mit.edu	37	17	44060812	44060812	+	Silent	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr17:44060812C>T	ENST00000571987.1	+	5	642	c.642C>T	c.(640-642)agC>agT	p.S214S	MAPT_ENST00000431008.3_Intron|MAPT_ENST00000344290.5_Silent_p.S214S|MAPT_ENST00000262410.5_Silent_p.S214S|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000415613.2_Silent_p.S214S|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000351559.5_Intron			P10636	TAU_HUMAN	microtubule-associated protein tau	214					adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	GGCCGGGGAGCAAGGAGGAGG	0.687																																						ENST00000571987.1	1.000000	2.300000e-01	0.790000	3.700000e-01	0.550000	0.583700	0.550000	1.000000																										0				38						c.(640-642)agC>agT		microtubule-associated protein tau	Docetaxel(DB01248)|Paclitaxel(DB01229)						33.0	23.0	26.0					17																	44060812		2201	4300	6501	SO:0001819	synonymous_variant	4137	0	0					g.chr17:44060812C>T	J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"""G protein beta1/gamma2 subunit-interacting factor 1"", ""microtubule-associated protein tau, isoform 4"", ""protein phosphatase 1, regulatory subunit 103"""	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.642C>T	chr17.hg19:g.44060812C>T		0					MAPT_ENST00000431008.3_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000344290.5_Silent_p.S214S|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000262410.5_Silent_p.S214S|MAPT_ENST00000415613.2_Silent_p.S214S	p.S214S			0	1	1	2.046865	P10636	TAU_HUMAN		5	642	+		Melanoma(429;0.216)	P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Silent	SNP	ENST00000571987.1	1	1	hg19	c.642C>T	CCDS11501.1	0																																																																																								0.268024		TCGA-2J-AAB8-01A-12D-A40W-08	0.687	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000440133.1	0	0	1		2	2	2	0		0	0	24		24	23	1	1.810000	-10.833970	1	0.270000	NM_016835			6	6		77	72	0		1			0	0	24	0		0.959792	0	0	0	0	0	0	6	77
ACOX1	51	broad.mit.edu	37	17	73947567	73947567	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr17:73947567C>T	ENST00000301608.4	-	8	1096	c.1036G>A	c.(1036-1038)Gca>Aca	p.A346T	ACOX1_ENST00000537812.1_Missense_Mutation_p.A308T|ACOX1_ENST00000293217.5_Missense_Mutation_p.A346T	NM_007292.5	NP_009223.2	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	346					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|peroxisome fission (GO:0016559)|positive regulation of cholesterol homeostasis (GO:2000189)|prostaglandin metabolic process (GO:0006693)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|FAD binding (GO:0071949)|fatty acid binding (GO:0005504)|flavin adenine dinucleotide binding (GO:0050660)|palmitoyl-CoA oxidase activity (GO:0016401)|PDZ domain binding (GO:0030165)|protein N-terminus binding (GO:0047485)|receptor binding (GO:0005102)			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14					Flavin adenine dinucleotide(DB03147)	TTCATGTATGCGCCCACAAAC	0.488																																						ENST00000301608.4	0.150000	2.000000e-02	0.110000	4.000000e-02	0.060000	0.079508	0.060000	0.070000																										0				14						c.(1036-1038)Gca>Aca		acyl-CoA oxidase 1, palmitoyl	Flavin adenine dinucleotide(DB03147)						156.0	148.0	150.0					17																	73947567		2203	4300	6503	SO:0001583	missense	51	3	121412	41				g.chr17:73947567C>T	U03254	CCDS11734.1, CCDS11735.1	17q25.1	2012-10-04	2010-04-30		ENSG00000161533	ENSG00000161533	1.3.3.6		119	protein-coding gene	gene with protein product		609751	"""acyl-Coenzyme A oxidase 1, palmitoyl"""			8159712	Standard	NM_007292		Approved	PALMCOX	uc002jqe.3	Q15067	OTTHUMG00000180027	ENST00000301608.4:c.1036G>A	chr17.hg19:g.73947567C>T	ENSP00000301608:p.Ala346Thr	1					ACOX1_ENST00000537812.1_Missense_Mutation_p.A308T|ACOX1_ENST00000293217.5_Missense_Mutation_p.A346T	p.A346T	NM_007292.5	NP_009223.2	0	1	1	1.821458	Q15067	ACOX1_HUMAN		8	1096	-			A8K6X8|A8KAA0|B4DK61|F5GYQ8|Q12863|Q15068|Q15101|Q16131|Q7Z3W5|Q9UD31	Missense_Mutation	SNP	ENST00000301608.4	0	1	hg19	c.1036G>A	CCDS11735.1	0	.	.	.	.	.	.	.	.	.	.	C	8.782	0.928597	0.18131	.	.	ENSG00000161533	ENST00000301608;ENST00000293217;ENST00000537812;ENST00000539791;ENST00000538781	T;T;T	0.69806	-0.43;-0.43;-0.43	5.72	2.1	0.27182	5.72	2.1	0.27182	Acyl-CoA dehydrogenase/oxidase C-terminal (2);	0.481838	0.25035	N	0.033647	T	0.42517	0.1206	N	0.16743	0.435	0.09310	N	1	B;B;B;B	0.23735	0.09;0.09;0.005;0.016	B;B;B;B	0.25987	0.065;0.065;0.007;0.01	T	0.20605	-1.0270	10	0.13853	T	0.58	-0.7919	4.8255	0.13414	0.1402:0.581:0.0:0.2789	.	278;308;346;346	F5H0M0;F5GYQ8;Q15067;Q15067-2	.;.;ACOX1_HUMAN;.	T	346;346;308;346;278	ENSP00000301608:A346T;ENSP00000293217:A346T;ENSP00000441257:A308T	ENSP00000293217:A346T	A	-	1	0	0	ACOX1	71459162	71459162	0.180000	0.23148	0.027000	0.17364	0.863000	0.49368	1.554000	0.36266	0.137000	0.18759	0.462000	0.41574	GCA	0.156069		TCGA-2J-AAB8-01A-12D-A40W-08	0.488	ACOX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439503.1	0	0	1		2	2	2	0		0	0	84		84	84	1	1.810000	-1.855854	0	0.270000				5	5		471	466	0		1	0		0	0	84	0		0.936101	2.117014e-02	0	0	0	17	0	5	471
TP53	7157	broad.mit.edu	37	17	7578433	7578433	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr17:7578433G>T	ENST00000269305.4	-	5	686	c.497C>A	c.(496-498)tCa>tAa	p.S166*	TP53_ENST00000359597.4_Nonsense_Mutation_p.S166*|TP53_ENST00000420246.2_Nonsense_Mutation_p.S166*|TP53_ENST00000455263.2_Nonsense_Mutation_p.S166*|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Nonsense_Mutation_p.S166*|TP53_ENST00000445888.2_Nonsense_Mutation_p.S166*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	166	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		S -> A (in sporadic cancers; somatic mutation).|S -> G (in a sporadic cancer; somatic mutation).|S -> L (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.S166*(25)|p.0?(8)|p.S166L(4)|p.Q167fs*14(4)|p.S34*(2)|p.S73*(2)|p.K164fs*3(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.P151_V173del23(1)|p.Q165_S166insYKQ(1)|p.Q165_M169delQSQHM(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.S166G(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CATGTGCTGTGACTGCTTGTA	0.632		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000269305.4	1.000000	8.400000e-01	1.000000	9.100000e-01	0.960000	0.957667	0.960000	0.990000		111	yes	Rec	yes	Li-Fraumeni syndrome	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	17p13	7157	Mis, N, F	tumor protein p53				"""L, E, M, O"""	L, E, M, O		breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types	breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types		56	Substitution - Nonsense(29)|Whole gene deletion(8)|Deletion - Frameshift(5)|Substitution - Missense(5)|Deletion - In frame(4)|Insertion - Frameshift(4)|Insertion - In frame(1)	p.S166*(25)|p.0?(8)|p.S166L(4)|p.Q167fs*14(4)|p.S34*(2)|p.S73*(2)|p.K164fs*3(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.P151_V173del23(1)|p.Q165_S166insYKQ(1)|p.Q165_M169delQSQHM(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.S166G(1)	lung(18)|breast(7)|upper_aerodigestive_tract(4)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|large_intestine(3)|central_nervous_system(3)|oesophagus(3)|liver(3)|stomach(2)|urinary_tract(2)|ovary(2)|skin(1)	24185						c.(496-498)tCa>tAa	Other conserved DNA damage response genes	tumor protein p53	Acetylsalicylic acid(DB00945)						54.0	54.0	54.0					17																	7578433		2203	4300	6503	SO:0001587	stop_gained	7157	0	0		Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	g.chr17:7578433G>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.497C>A	chr17.hg19:g.7578433G>T	ENSP00000269305:p.Ser166*	1	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Nonsense_Mutation_p.S166*|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Nonsense_Mutation_p.S166*|TP53_ENST00000420246.2_Nonsense_Mutation_p.S166*|TP53_ENST00000359597.4_Nonsense_Mutation_p.S166*|TP53_ENST00000413465.2_Nonsense_Mutation_p.S166*	p.S166*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	0	1	1	1.819173	P04637	P53_HUMAN		5	686	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	0	1	hg19	c.497C>A	CCDS11118.1	1	.	.	.	.	.	.	.	.	.	.	G	15.06	2.721457	0.48728	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.59	4.63	0.57726	5.59	4.63	0.57726	.	0.284727	0.34002	N	0.004360	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.3004	12.6801	0.56916	0.0803:0.0:0.9197:0.0	.	.	.	.	X	166;166;166;166;166;166;155;73;34;73;34	.	ENSP00000269305:S166X	S	-	2	0	0	TP53	7519158	7519158	0.909000	0.30893	0.776000	0.31678	0.112000	0.19704	4.756000	0.62205	1.513000	0.48852	0.655000	0.94253	TCA	0.156069		TCGA-2J-AAB8-01A-12D-A40W-08	0.632	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	1	0	1		2	2	2	0		0	0	85		85	82	1	1.810000	-20.000000	1	0.270000	NM_000546			58	57		225	223	1		1	0	1	0	0	85	1373		1.000000	9.208186e-01	1	1	205	18	937	58	225
DNAH2	146754	broad.mit.edu	37	17	7696378	7696378	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr17:7696378G>A	ENST00000572933.1	+	48	8884	c.7424G>A	c.(7423-7425)gGc>gAc	p.G2475D	DNAH2_ENST00000389173.2_Missense_Mutation_p.G2475D			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2475	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.G2475D(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCATTCGGGGGCAAAAGCATG	0.512																																						ENST00000572933.1	0.210000	4.000000e-02	0.160000	7.000000e-02	0.110000	0.123959	0.110000	0.110000																										1	Substitution - Missense(1)	p.G2475D(1)	kidney(1)	189						c.(7423-7425)gGc>gAc		dynein, axonemal, heavy chain 2							143.0	123.0	130.0					17																	7696378		2203	4300	6503	SO:0001583	missense	146754	1	121412	30				g.chr17:7696378G>A	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.7424G>A	chr17.hg19:g.7696378G>A	ENSP00000458355:p.Gly2475Asp	1					DNAH2_ENST00000389173.2_Missense_Mutation_p.G2475D	p.G2475D			0	1	1	1.819173	Q9P225	DYH2_HUMAN		48	8884	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	0	1	hg19	c.7424G>A	CCDS32551.1	0	.	.	.	.	.	.	.	.	.	.	G	25.2	4.608500	0.87258	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.64260	-0.09	4.39	4.39	0.52855	4.39	4.39	0.52855	ATPase, AAA+ type, core (1);	0.127184	0.52532	D	0.000078	D	0.85071	0.5613	H	0.96430	3.82	0.80722	D	1	D	0.63880	0.993	D	0.73708	0.981	D	0.90106	0.4188	10	0.72032	D	0.01	.	15.9412	0.79756	0.0:0.0:1.0:0.0	.	2475	Q9P225	DYH2_HUMAN	D	2475	ENSP00000373825:G2475D	ENSP00000353818:G2475D	G	+	2	0	0	DNAH2	7637103	7637103	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.091000	0.94151	2.295000	0.77249	0.632000	0.83419	GGC	0.156069		TCGA-2J-AAB8-01A-12D-A40W-08	0.512	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	0	0	1		17	2	2	1		1	1	82		82	80	1	1.810000	-2.394499	0	0.270000	NM_020877			7	7		399	397	0		0	0		1	0	82	0		0.028789	0	0	0	0	1	0	7	399
EVPL	2125	broad.mit.edu	37	17	74014618	74014618	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr17:74014618C>T	ENST00000301607.3	-	12	1601	c.1348G>A	c.(1348-1350)Gtg>Atg	p.V450M	EVPL_ENST00000586740.1_Missense_Mutation_p.V450M	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	450	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGGCCCTGCACGACCCAGGCG	0.662																																						ENST00000301607.3	0.990000	5.200000e-01	0.950000	6.800000e-01	0.830000	0.821129	0.830000	0.960000																										0				54						c.(1348-1350)Gtg>Atg		envoplakin							20.0	22.0	21.0					17																	74014618		2203	4299	6502	SO:0001583	missense	2125	26	121316	41				g.chr17:74014618C>T	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.1348G>A	chr17.hg19:g.74014618C>T	ENSP00000301607:p.Val450Met	1					EVPL_ENST00000586740.1_Missense_Mutation_p.V450M	p.V450M	NM_001988.2	NP_001979.2	0	1	1	1.821458	Q92817	EVPL_HUMAN		12	1601	-			A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	0	1	hg19	c.1348G>A	CCDS11737.1	0	.	.	.	.	.	.	.	.	.	.	C	19.79	3.892323	0.72524	.	.	ENSG00000167880	ENST00000301607	T	0.72167	-0.63	5.12	5.12	0.69794	5.12	5.12	0.69794	.	0.138638	0.48286	D	0.000181	D	0.84415	0.5467	M	0.78637	2.42	0.49213	D	0.999762	D;D	0.89917	1.0;1.0	D;D	0.69142	0.96;0.962	D	0.86389	0.1734	10	0.87932	D	0	-42.0999	18.9474	0.92627	0.0:1.0:0.0:0.0	.	450;450	B7ZLH8;Q92817	.;EVPL_HUMAN	M	450	ENSP00000301607:V450M	ENSP00000301607:V450M	V	-	1	0	0	EVPL	71526213	71526213	0.998000	0.40836	0.798000	0.32154	0.603000	0.37013	4.206000	0.58473	2.573000	0.86826	0.561000	0.74099	GTG	0.156069		TCGA-2J-AAB8-01A-12D-A40W-08	0.662	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	1	0	1		2	2	2	0		0	0	11		11	11	1	1.810000	-19.998860	1	0.270000	NM_001988			13	13		69	64	1		1	1		0	0	11	0		0.999518	3.922743e-01	0	7	0	1	0	13	69
SMAD4	4089	broad.mit.edu	37	18	48584787	48584787	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr18:48584787C>T	ENST00000342988.3	+	7	1403	c.865C>T	c.(865-867)Cag>Tag	p.Q289*	SMAD4_ENST00000398417.2_Nonsense_Mutation_p.Q289*|SMAD4_ENST00000588745.1_Intron	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	289	SAD.				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.?(2)|p.Q289*(1)		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)		CGGCCATCTTCAGCACCACCC	0.463																																						ENST00000342988.3	0.470000	2.100000e-01	0.410000	2.600000e-01	0.330000	0.340057	0.330000	0.330000																										39	Whole gene deletion(36)|Unknown(2)|Substitution - Nonsense(1)	p.0?(36)|p.?(2)|p.Q289*(1)	pancreas(26)|stomach(3)|lung(3)|breast(3)|large_intestine(2)|upper_aerodigestive_tract(1)|oesophagus(1)	454						c.(865-867)Cag>Tag		SMAD family member 4							106.0	93.0	98.0					18																	48584787		2203	4300	6503	SO:0001587	stop_gained	4089	0	0					g.chr18:48584787C>T	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.865C>T	chr18.hg19:g.48584787C>T	ENSP00000341551:p.Gln289*	1					SMAD4_ENST00000588745.1_Intron|SMAD4_ENST00000398417.2_Nonsense_Mutation_p.Q289*	p.Q289*	NM_005359.5	NP_005350.1	0	0	0	1.664015	Q13485	SMAD4_HUMAN		7	1403	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	A8K405	Nonsense_Mutation	SNP	ENST00000342988.3	0	1	hg19	c.865C>T	CCDS11950.1	0	.	.	.	.	.	.	.	.	.	.	C	41	8.836430	0.98972	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	.	.	.	6.17	6.17	0.99709	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	19.6509	0.95805	0.0:1.0:0.0:0.0	.	.	.	.	X	289	.	ENSP00000341551:Q289X	Q	+	1	0	0	SMAD4	46838785	46838785	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.603000	0.82811	2.941000	0.99782	0.655000	0.94253	CAG	0.096870		TCGA-2J-AAB8-01A-12D-A40W-08	0.463	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	1	0	1		2	2	2	0		0	0	107		107	103	1	1.810000	-5.631406	1	0.270000	NM_005359			22	22		371	351	0		1	0	1	0	0	107	1025		0.999998	1.136932e-01	1	0	41	10	829	22	371
ZNF407	55628	broad.mit.edu	37	18	72347372	72347372	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr18:72347372C>T	ENST00000299687.5	+	1	4397	c.4397C>T	c.(4396-4398)gCc>gTc	p.A1466V	ZNF407_ENST00000309902.6_Missense_Mutation_p.A1466V|ZNF407_ENST00000582337.1_Missense_Mutation_p.A1466V|ZNF407_ENST00000577538.1_Missense_Mutation_p.A1466V	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1466					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		CTGGCTAGTGCCGGCCACATG	0.498																																						ENST00000299687.5	0.530000	1.000000e-01	0.420000	1.700000e-01	0.280000	0.303841	0.280000	0.270000																										0				67						c.(4396-4398)gCc>gTc		zinc finger protein 407							37.0	41.0	39.0					18																	72347372		1917	4158	6075	SO:0001583	missense	55628	1	120846	30				g.chr18:72347372C>T	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.4397C>T	chr18.hg19:g.72347372C>T	ENSP00000299687:p.Ala1466Val	1					ZNF407_ENST00000309902.6_Missense_Mutation_p.A1466V|ZNF407_ENST00000582337.1_Missense_Mutation_p.A1466V|ZNF407_ENST00000577538.1_Missense_Mutation_p.A1466V	p.A1466V	NM_017757.2	NP_060227.2	0	0	0	1.664015	Q9C0G0	ZN407_HUMAN		1	4397	+		Esophageal squamous(42;0.131)|Prostate(75;0.173)	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	ENST00000299687.5	0	1	hg19	c.4397C>T	CCDS45885.1	0	.	.	.	.	.	.	.	.	.	.	C	25.4	4.639450	0.87760	.	.	ENSG00000215421	ENST00000299687;ENST00000309902	T;T	0.11495	2.77;3.22	5.59	5.59	0.84812	5.59	5.59	0.84812	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.067772	0.56097	D	0.000026	T	0.14056	0.0340	N	0.04880	-0.145	0.39317	D	0.965188	D;D;D	0.67145	0.995;0.995;0.996	D;D;D	0.66602	0.909;0.909;0.945	T	0.18808	-1.0325	10	0.44086	T	0.13	.	12.8789	0.58006	0.0:0.9256:0.0:0.0744	.	1466;1466;1466	Q9C0G0-3;Q9C0G0-2;Q9C0G0	.;.;ZN407_HUMAN	V	1466	ENSP00000299687:A1466V;ENSP00000310359:A1466V	ENSP00000299687:A1466V	A	+	2	0	0	ZNF407	70476360	70476360	1.000000	0.71417	0.992000	0.48379	0.910000	0.53928	4.654000	0.61469	0.041000	0.15688	-0.482000	0.04802	GCC	0.096870		TCGA-2J-AAB8-01A-12D-A40W-08	0.498	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	1	0	1		2	2	2	0		0	0	17		17	17	1	1.810000	-7.451235	1	0.270000	NM_017757			4	4		78	77	0		1	0		0	0	17	0		0.889214	2.256845e-02	0	0	0	4	0	4	78
EPOR	2057	broad.mit.edu	37	19	11492697	11492697	+	Silent	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr19:11492697G>A	ENST00000222139.6	-	3	440	c.336C>T	c.(334-336)gcC>gcT	p.A112A	EPOR_ENST00000592375.2_Silent_p.A112A	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	112					brain development (GO:0007420)|decidualization (GO:0046697)|erythropoietin-mediated signaling pathway (GO:0038162)|heart development (GO:0007507)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	erythropoietin receptor activity (GO:0004900)|identical protein binding (GO:0042802)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)|Epoetin Zeta(DB08923)|Peginesatide(DB08894)	TCGACGTGTCGGCTGTAGGCA	0.617																																						ENST00000222139.6	1.000000	7.000000e-01	1.000000	8.300000e-01	0.990000	0.937271	0.990000	1.000000																										0				5						c.(334-336)gcC>gcT		erythropoietin receptor	Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)|Epoetin Zeta(DB08923)|Peginesatide(DB08894)						57.0	51.0	53.0					19																	11492697		2203	4300	6503	SO:0001819	synonymous_variant	2057	0	0					g.chr19:11492697G>A	M34986	CCDS12260.1	19p13.3-p13.2	2013-02-11				ENSG00000187266		"""Fibronectin type III domain containing"""	3416	protein-coding gene	gene with protein product		133171					Standard	NM_000121		Approved		uc002mrj.2	P19235		ENST00000222139.6:c.336C>T	chr19.hg19:g.11492697G>A		0					EPOR_ENST00000592375.2_Silent_p.A112A	p.A112A	NM_000121.3	NP_000112.1	1	2	3	2.088449	P19235	EPOR_HUMAN		3	440	-			B2RCG4|Q15443|Q2M205	Silent	SNP	ENST00000222139.6	1	1	hg19	c.336C>T	CCDS12260.1	1																																																																																								0.277800		TCGA-2J-AAB8-01A-12D-A40W-08	0.617	EPOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458791.1	1	0	1		2	2	2	0		0	0	38		38	37	1	1.810000	-15.897840	1	0.270000				35	35		233	232	1		1	0		0	0	38	0		1.000000	0	0	1	0	0	0	35	233
JUNB	3726	broad.mit.edu	37	19	12902601	12902601	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08			G	T	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr19:12902601G>T	ENST00000302754.4	+	1	292	c.16G>T	c.(16-18)Gaa>Taa	p.E6*		NM_002229.2	NP_002220.1	P17275	JUNB_HUMAN	jun B proto-oncogene	6					cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|decidualization (GO:0046697)|embryonic process involved in female pregnancy (GO:0060136)|gene expression (GO:0010467)|labyrinthine layer blood vessel development (GO:0060716)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|osteoclast differentiation (GO:0030316)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|vasculogenesis (GO:0001570)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						CACTAAAATGGAACAGCCCTT	0.662																																						ENST00000302754.4	1.000000	1.500000e-01	0.650000	2.600000e-01	0.410000	0.461756	0.410000	0.360000																										0				6						c.(16-18)Gaa>Taa		jun B proto-oncogene							39.0	37.0	38.0					19																	12902601		2203	4299	6502	SO:0001587	stop_gained	3726	0	0					g.chr19:12902601G>T	M29039	CCDS12280.1	19p13.13	2013-01-10				ENSG00000171223		"""basic leucine zipper proteins"""	6205	protein-coding gene	gene with protein product		165161				2513129	Standard	NM_002229		Approved		uc002mvc.3	P17275		ENST00000302754.4:c.16G>T	chr19.hg19:g.12902601G>T	ENSP00000303315:p.Glu6*	0						p.E6*	NM_002229.2	NP_002220.1	1	2	3	2.088449	P17275	JUNB_HUMAN		1	292	+			Q96GH3	Nonsense_Mutation	SNP	ENST00000302754.4	0	1	hg19	c.16G>T	CCDS12280.1	0	.	.	.	.	.	.	.	.	.	.	G	39	7.821621	0.98507	.	.	ENSG00000171223	ENST00000302754	.	.	.	5.32	5.32	0.75619	5.32	5.32	0.75619	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.2411	17.7449	0.88418	0.0:0.0:1.0:0.0	.	.	.	.	X	6	.	ENSP00000303315:E6X	E	+	1	0	0	JUNB	12763601	12763601	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.685000	0.84117	2.484000	0.83849	0.561000	0.74099	GAA	0.277800		TCGA-2J-AAB8-01A-12D-A40W-08	0.662	JUNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451015.1	0	0	1		2	2	2	0		0	0	25		25	24	1	1.810000	-8.488070	1	0.270000	NM_002229			5	5		96	92	0		1	1		0	0	25	0		0.932357	9.984014e-01	0	42	0	245	0	5	96
EMR1	2015	broad.mit.edu	37	19	6926610	6926610	+	Silent	SNP	T	T	C			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr19:6926610T>C	ENST00000312053.4	+	16	2257	c.2220T>C	c.(2218-2220)aaT>aaC	p.N740N	EMR1_ENST00000381404.4_Silent_p.N688N|EMR1_ENST00000381407.5_Silent_p.N599N|EMR1_ENST00000250572.8_Silent_p.N675N|EMR1_ENST00000450315.3_Silent_p.N563N	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	740					cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					GAATGCATAATCGGTGAGTGA	0.502																																						ENST00000312053.4	1.000000	6.000000e-02	0.230000	9.000000e-02	0.140000	0.208924	0.140000	0.130000																										0				62						c.(2218-2220)aaT>aaC		egf-like module containing, mucin-like, hormone receptor-like 1							148.0	120.0	130.0					19																	6926610		2203	4300	6503	SO:0001819	synonymous_variant	2015	0	0					g.chr19:6926610T>C	X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.2220T>C	chr19.hg19:g.6926610T>C		0					EMR1_ENST00000381407.5_Silent_p.N599N|EMR1_ENST00000450315.3_Silent_p.N563N|EMR1_ENST00000250572.8_Silent_p.N675N|EMR1_ENST00000381404.4_Silent_p.N688N	p.N740N	NM_001974.4	NP_001965.3	1	2	3	2.088449	Q14246	EMR1_HUMAN		16	2257	+	all_hematologic(4;0.166)		A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Silent	SNP	ENST00000312053.4	0	1	hg19	c.2220T>C	CCDS12175.1	0																																																																																								0.277800		TCGA-2J-AAB8-01A-12D-A40W-08	0.502	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458485.1	0	0	1		18	2	2	1		1	1	70		70	69	1	1.810000	-7.385072	1	0.270000				7	7		376	370	0		0			1	0	70	0		0.017816	0	0	0	0	0	0	7	376
NWD1	284434	broad.mit.edu	37	19	16910925	16910925	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr19:16910925C>T	ENST00000552788.1	+	15	3688	c.3688C>T	c.(3688-3690)Ccc>Tcc	p.P1230S	NWD1_ENST00000523826.1_Missense_Mutation_p.P1024S|NWD1_ENST00000379808.3_Missense_Mutation_p.P1230S|NWD1_ENST00000549814.1_Missense_Mutation_p.P1188S|NWD1_ENST00000339803.6_Missense_Mutation_p.P1095S|NWD1_ENST00000524140.2_Missense_Mutation_p.P1230S|CTD-2538G9.6_ENST00000601661.1_RNA			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1230							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CGTCTACTTCCCCAAAATTGG	0.512																																						ENST00000552788.1	1.000000	9.500000e-01	1.000000	9.900000e-01	0.990000	0.997426	0.990000	1.000000																										0				67						c.(3688-3690)Ccc>Tcc		NACHT and WD repeat domain containing 1							89.0	78.0	82.0					19																	16910925		2203	4300	6503	SO:0001583	missense	284434	0	0					g.chr19:16910925C>T	BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.3688C>T	chr19.hg19:g.16910925C>T	ENSP00000447224:p.Pro1230Ser	0					NWD1_ENST00000379808.3_Missense_Mutation_p.P1230S|NWD1_ENST00000524140.2_Missense_Mutation_p.P1230S|NWD1_ENST00000339803.6_Missense_Mutation_p.P1095S|NWD1_ENST00000523826.1_Missense_Mutation_p.P1024S|CTD-2538G9.6_ENST00000601661.1_RNA|NWD1_ENST00000549814.1_Missense_Mutation_p.P1188S	p.P1230S			1	2	3	2.088449	Q149M9	NWD1_HUMAN		15	3688	+			C9J021|Q68CT3	Missense_Mutation	SNP	ENST00000552788.1	1	1	hg19	c.3688C>T		1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.959887	0.74016	.	.	ENSG00000188039	ENST00000420818;ENST00000524140;ENST00000549814;ENST00000379808;ENST00000523826;ENST00000552788;ENST00000339803	T;T;T;T;T;T	0.70045	0.55;-0.45;0.55;2.27;1.74;2.27	5.35	5.35	0.76521	5.35	5.35	0.76521	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.156902	0.43579	D	0.000556	T	0.68091	0.2963	N	0.12569	0.235	0.37668	D	0.923031	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.994	T	0.71836	-0.4472	10	0.33141	T	0.24	-35.9247	16.6115	0.84884	0.0:1.0:0.0:0.0	.	1230;1230;1095	Q149M9;Q149M9-3;C9J2Y8	NWD1_HUMAN;.;.	S	1095;1230;1188;1230;1024;1230;1095	ENSP00000428579:P1230S;ENSP00000447548:P1188S;ENSP00000369136:P1230S;ENSP00000428955:P1024S;ENSP00000447224:P1230S;ENSP00000340159:P1095S	ENSP00000340159:P1095S	P	+	1	0	0	NWD1	16771925	16771925	1.000000	0.71417	0.998000	0.56505	0.980000	0.70556	2.938000	0.48987	2.520000	0.84964	0.650000	0.86243	CCC	0.277800		TCGA-2J-AAB8-01A-12D-A40W-08	0.512	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000403569.1	1	0	1		2	2	2	0		0	0	104		104	102	1	1.810000	-2.645510	1	0.270000	NM_001007525			80	80		428	423	1		1			0	0	104	0		1.000000	0	0	0	0	0	0	80	428
PTCHD2	57540	broad.mit.edu	37	1	11561268	11561268	+	Missense_Mutation	SNP	T	T	G			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:11561268T>G	ENST00000294484.6	+	2	357	c.219T>G	c.(217-219)tgT>tgG	p.C73W	PTCHD2_ENST00000389575.3_Missense_Mutation_p.C73W	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	73					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		ATCCGTGCTGTGCTGGGCTGG	0.627																																						ENST00000294484.6	0.390000	1.100000e-01	0.310000	1.600000e-01	0.220000	0.241637	0.220000	0.220000																										0				76						c.(217-219)tgT>tgG		patched domain containing 2							80.0	82.0	81.0					1																	11561268		2099	4220	6319	SO:0001583	missense	57540	0	0					g.chr1:11561268T>G	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.219T>G	chr1.hg19:g.11561268T>G	ENSP00000294484:p.Cys73Trp	0					PTCHD2_ENST00000389575.3_Missense_Mutation_p.C73W	p.C73W	NM_020780.1	NP_065831.1	0	1	1	1.921568	Q9P2K9	PTHD2_HUMAN		2	357	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	1	1	hg19	c.219T>G	CCDS41247.1	0	.	.	.	.	.	.	.	.	.	.	T	17.23	3.335812	0.60853	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	T;T	0.26223	1.75;1.75	5.91	-8.89	0.00785	5.91	-8.89	0.00785	.	0.141145	0.47455	U	0.000239	T	0.26122	0.0637	N	0.24115	0.695	0.50039	D	0.999844	D	0.63880	0.993	P	0.55923	0.787	T	0.53865	-0.8378	10	0.87932	D	0	-15.4806	20.8583	0.99727	0.0:0.6554:0.0:0.3446	.	73	Q9P2K9	PTHD2_HUMAN	W	73	ENSP00000294484:C73W;ENSP00000374226:C73W	ENSP00000294484:C73W	C	+	3	2	2	PTCHD2	11483855	11483855	0.014000	0.17966	0.389000	0.26208	0.982000	0.71751	-1.193000	0.03049	-1.737000	0.01350	-0.250000	0.11733	TGT	0.203318		TCGA-2J-AAB8-01A-12D-A40W-08	0.627	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	0	0	1		2	2	2	0		0	0	47		47	47	1	1.810000	-11.089900	1	0.270000	XM_052561			10	10		293	289	0		1			0	0	47	0		0.996800	0	0	0	0	0	0	10	293
PIAS3	10401	broad.mit.edu	37	1	145578668	145578668	+	Silent	SNP	G	G	A	rs201406617		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:145578668G>A	ENST00000393045.2	+	3	564	c.474G>A	c.(472-474)gcG>gcA	p.A158A	PIAS3_ENST00000369299.3_Silent_p.A149A|PIAS3_ENST00000369298.1_Silent_p.A123A	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	158	PINIT. {ECO:0000255|PROSITE- ProRule:PRU00799}.				positive regulation of gene expression (GO:0010628)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)|synapse (GO:0045202)	enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|SUMO ligase activity (GO:0019789)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTGAGGAAGCGCACTTTACCT	0.537																																						ENST00000393045.2	1.000000	3.700000e-01	1.000000	4.400000e-01	0.520000	0.615345	0.520000	0.500000																										0				28						c.(472-474)gcG>gcA		protein inhibitor of activated STAT, 3		G		1,4405	2.1+/-5.4	0,1,2202	216.0	188.0	198.0		474	-5.5	0.9	1		198	0,8600		0,0,4300	no	coding-synonymous	PIAS3	NM_006099.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		158/629	145578668	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10401	30	121412	50				g.chr1:145578668G>A	AB021868	CCDS72866.1	1q21	2011-10-11			ENSG00000131788	ENSG00000131788		"""Zinc fingers, MIZ-type"""	16861	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 5"""	605987				10319586	Standard	NM_006099		Approved	FLJ14651, ZMIZ5	uc001eoc.1	Q9Y6X2	OTTHUMG00000013750	ENST00000393045.2:c.474G>A	chr1.hg19:g.145578668G>A		1					PIAS3_ENST00000369298.1_Silent_p.A123A|PIAS3_ENST00000369299.3_Silent_p.A149A	p.A158A	NM_006099.3	NP_006090.2	2	2	4	2.399819	Q9Y6X2	PIAS3_HUMAN		3	564	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Q9UFI3	Silent	SNP	ENST00000393045.2	1	1	hg19	c.474G>A	CCDS920.2	0																																																																																								0.380411		TCGA-2J-AAB8-01A-12D-A40W-08	0.537	PIAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038533.4	0	0	1		2	2	2	0		0	0	157		157	155	1	1.810000	-6.947408	1	0.270000	NM_006099			44	44		724	717	0		1	1		0	0	157	0		1.000000	5.433264e-01	0	2	0	29	0	44	724
F5	2153	broad.mit.edu	37	1	169529961	169529961	+	Silent	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:169529961G>A	ENST00000367797.3	-	4	618	c.417C>T	c.(415-417)gaC>gaT	p.D139D	F5_ENST00000367796.3_Silent_p.D139D|F5_ENST00000546081.1_Silent_p.D2D	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	139	F5/8 type A 1.|Plastocyanin-like 1.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	CCACAGCGTCGTCCATCTTCT	0.517																																						ENST00000367797.3	1.000000	1.700000e-01	1.000000	2.300000e-01	0.310000	0.461486	0.310000	0.280000																										0				128						c.(415-417)gaC>gaT		coagulation factor V (proaccelerin, labile factor)	ART-123(DB05777)|Drotrecogin alfa(DB00055)						148.0	124.0	132.0					1																	169529961		2203	4300	6503	SO:0001819	synonymous_variant	2153	3	121412	37				g.chr1:169529961G>A	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.417C>T	chr1.hg19:g.169529961G>A		1					F5_ENST00000367796.3_Silent_p.D139D|F5_ENST00000546081.1_Silent_p.D2D	p.D139D	NM_000130.4	NP_000121	1	3	4	2.399507	P12259	FA5_HUMAN		4	618	-	all_hematologic(923;0.208)		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Silent	SNP	ENST00000367797.3	1	1	hg19	c.417C>T	CCDS1281.1	0																																																																																								0.367363		TCGA-2J-AAB8-01A-12D-A40W-08	0.517	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	0	0	1		2	2	2	0		0	0	63		63	62	1	1.810000	-3.313834	1	0.270000	NM_000130			16	16		475	469	0		1	0		0	0	63	0		0.999928	3.672915e-03	0	0	0	3	0	16	475
SELL	6402	broad.mit.edu	37	1	169677858	169677858	+	Nonsense_Mutation	SNP	G	G	A	rs572748773		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:169677858G>A	ENST00000236147.4	-	3	371	c.211C>T	c.(211-213)Cga>Tga	p.R71*	SELL_ENST00000463108.1_5'UTR|C1orf112_ENST00000498289.1_Intron	NM_000655.4	NP_000646.2	P14151	LYAM1_HUMAN	selectin L	58	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|regulation of immune response (GO:0050776)|response to ATP (GO:0033198)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|protease binding (GO:0002020)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	15	all_hematologic(923;0.208)					TAATTGTCTCGGCAGAATCTT	0.433													G|||	1	0.000199681	0.0	0.0	5008	,	,		20085	0.001		0.0	False		,,,				2504	0.0					ENST00000236147.4	1.000000	3.300000e-01	1.000000	5.100000e-01	0.790000	0.772105	0.790000	1.000000																										0				15						c.(211-213)Cga>Tga		selectin L							53.0	47.0	49.0					1																	169677858		1863	4110	5973	SO:0001587	stop_gained	6402	0	0					g.chr1:169677858G>A	M25280	CCDS53427.1	1q23-q25	2008-07-31	2008-07-31		ENSG00000188404	ENSG00000188404		"""CD molecules"""	10720	protein-coding gene	gene with protein product		153240	"""lymphocyte adhesion molecule 1"""	LYAM1, LNHR		2664786, 1375831	Standard	NR_029467		Approved	LSEL, LAM1, LAM-1, hLHRc, Leu-8, Lyam-1, PLNHR, CD62L	uc001ggk.3	P14151	OTTHUMG00000034809	ENST00000236147.4:c.211C>T	chr1.hg19:g.169677858G>A	ENSP00000236147:p.Arg71*	1					C1orf112_ENST00000498289.1_Intron|SELL_ENST00000463108.1_5'UTR	p.R71*	NM_000655.4	NP_000646.2	1	3	4	2.399507	P14151	LYAM1_HUMAN		3	371	-	all_hematologic(923;0.208)		B2R6Q8|P15023|Q9UJ43	Nonsense_Mutation	SNP	ENST00000236147.4	0	1	hg19	c.211C>T	CCDS53427.1	0	.	.	.	.	.	.	.	.	.	.	G	16.80	3.223393	0.58668	.	.	ENSG00000188404	ENST00000236147	.	.	.	5.2	2.14	0.27477	5.2	2.14	0.27477	.	1.276940	0.05720	N	0.597599	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16896	T	0.51	-1.1421	13.8848	0.63702	0.0:0.0:0.312:0.688	.	.	.	.	X	71	.	ENSP00000236147:R71X	R	-	1	2	2	SELL	167944482	167944482	0.205000	0.23458	0.276000	0.24689	0.016000	0.09150	0.447000	0.21710	0.150000	0.19136	0.585000	0.79938	CGA	0.367363		TCGA-2J-AAB8-01A-12D-A40W-08	0.433	SELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084233.1	1	0	1		2	2	2	0		0	0	18		18	18	1	1.810000	-5.150747	1	0.270000	NM_000655			7	7		84	82	0		1	0		0	0	18	0		0.980502	2.297439e-02	0	0	0	3	0	7	84
TNR	7143	broad.mit.edu	37	1	175331865	175331865	+	Missense_Mutation	SNP	C	C	T	rs531733667		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:175331865C>T	ENST00000367674.2	-	14	3496	c.2788G>A	c.(2788-2790)Gaa>Aaa	p.E930K	TNR_ENST00000263525.2_Missense_Mutation_p.E930K			Q92752	TENR_HUMAN	tenascin R	930	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.E930K(2)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AGGCTGATTTCGTATTCGGTA	0.532																																						ENST00000367674.2	1.000000	9.900000e-01	1.000000	9.900000e-01	0.990000	1.000000	0.990000	1.000000																										2	Substitution - Missense(2)	p.E930K(2)	large_intestine(1)|breast(1)	177						c.(2788-2790)Gaa>Aaa		tenascin R							215.0	181.0	193.0					1																	175331865		2203	4300	6503	SO:0001583	missense	7143	3	121412	37				g.chr1:175331865C>T	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.2788G>A	chr1.hg19:g.175331865C>T	ENSP00000356646:p.Glu930Lys	1					TNR_ENST00000263525.2_Missense_Mutation_p.E930K	p.E930K			1	3	4	2.399507	Q92752	TENR_HUMAN		14	3496	-	Renal(580;0.146)		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	1	1	hg19	c.2788G>A	CCDS1318.1	1	.	.	.	.	.	.	.	.	.	.	C	11.70	1.717377	0.30413	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.58210	0.35;0.35	5.59	5.59	0.84812	5.59	5.59	0.84812	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.42017	0.1184	L	0.31420	0.93	0.80722	D	1	P	0.44578	0.838	B	0.40534	0.332	T	0.21042	-1.0257	10	0.15066	T	0.55	.	17.3759	0.87391	0.0:1.0:0.0:0.0	.	930	Q92752	TENR_HUMAN	K	930;930;840	ENSP00000356646:E930K;ENSP00000263525:E930K	ENSP00000263525:E930K	E	-	1	0	0	TNR	173598488	173598488	1.000000	0.71417	0.987000	0.45799	0.744000	0.42396	6.819000	0.75262	2.625000	0.88918	0.650000	0.86243	GAA	0.367363		TCGA-2J-AAB8-01A-12D-A40W-08	0.532	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	1	0	1		2	2	2	0		0	0	89		89	86	1	1.810000	-5.289538	1	0.270000	NM_003285			115	115		353	345	1		1			0	0	89	0		1.000000	0	0	0	0	0	0	115	353
OBSCN	84033	broad.mit.edu	37	1	228525760	228525760	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:228525760G>A	ENST00000422127.1	+	67	16960	c.16916G>A	c.(16915-16917)cGc>cAc	p.R5639H	OBSCN_ENST00000570156.2_Missense_Mutation_p.R6596H|OBSCN_ENST00000366709.4_Missense_Mutation_p.R2758H|OBSCN_ENST00000284548.11_Missense_Mutation_p.R5639H|OBSCN_ENST00000366707.4_Missense_Mutation_p.R3273H	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5639	SH3.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CACCCACTGCGCTGGCTTGTC	0.642																																						ENST00000422127.1	1.000000	1.900000e-01	0.680000	2.900000e-01	0.440000	0.494725	0.440000	0.390000																										0				223						c.(16915-16917)cGc>cAc		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							28.0	30.0	29.0					1																	228525760		2162	4262	6424	SO:0001583	missense	84033	1	121124	29				g.chr1:228525760G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.16916G>A	chr1.hg19:g.228525760G>A	ENSP00000409493:p.Arg5639His	0					OBSCN_ENST00000284548.11_Missense_Mutation_p.R5639H|OBSCN_ENST00000366707.4_Missense_Mutation_p.R3273H|OBSCN_ENST00000570156.2_Missense_Mutation_p.R6596H|OBSCN_ENST00000366709.4_Missense_Mutation_p.R2758H	p.R5639H	NM_001098623.2	NP_001092093.2	1	2	3	2.110234	Q5VST9	OBSCN_HUMAN		67	16960	+		Prostate(94;0.0405)	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	1	1	hg19	c.16916G>A	CCDS58065.1	0	.	.	.	.	.	.	.	.	.	.	G	21.5	4.159631	0.78226	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	4.35	2.47	0.30058	4.35	2.47	0.30058	Src homology-3 domain (2);	0.296783	0.25143	N	0.032814	T	0.19805	0.0476	N	0.19112	0.55	0.31810	N	0.627308	B;B	0.21381	0.033;0.055	B;B	0.16722	0.007;0.016	T	0.11036	-1.0604	10	0.66056	D	0.02	.	4.4143	0.11448	0.4487:0.0:0.5513:0.0	.	5639;5639	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	H	5639;5639;3273;2758	ENSP00000284548:R5639H;ENSP00000409493:R5639H;ENSP00000355668:R3273H;ENSP00000355670:R2758H	ENSP00000284548:R5639H	R	+	2	0	0	OBSCN	226592383	226592383	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	5.978000	0.70501	1.202000	0.43218	0.491000	0.48974	CGC	0.281637		TCGA-2J-AAB8-01A-12D-A40W-08	0.642	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	31		31	28	1	1.810000	-10.841010	1	0.270000	NM_052843			7	5		125	113	0		1			0	0	31	0		0.972584	0	0	0	0	0	0	7	125
CAMTA1	23261	broad.mit.edu	37	1	7798217	7798217	+	Missense_Mutation	SNP	C	C	T	rs139225365		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:7798217C>T	ENST00000303635.7	+	16	4064	c.3857C>T	c.(3856-3858)aCa>aTa	p.T1286I	CAMTA1_ENST00000439411.2_Missense_Mutation_p.T1286I	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1286					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GTCCCCGAGACACTCAGCCCC	0.552			T	WWTR1	epitheliod hemangioendothelioma																																	ENST00000303635.7	0.350000	6.000000e-02	0.260000	1.100000e-01	0.170000	0.192083	0.170000	0.160000				Dom	yes			Dom	yes		1	1p36.31-p36.23	1p36.31-p36.23	611501	T	calmodulin binding transcription activator 1				M	M	WWTR1		epitheliod hemangioendothelioma		0				85						c.(3856-3858)aCa>aTa		calmodulin binding transcription activator 1		C	ILE/THR	0,4406		0,0,2203	57.0	55.0	56.0		3857	4.1	1.0	1	dbSNP_134	56	2,8598	2.2+/-6.3	0,2,4298	no	missense	CAMTA1	NM_015215.2	89	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	1286/1674	7798217	2,13004	2203	4300	6503	SO:0001583	missense	23261	0	0					g.chr1:7798217C>T	AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.3857C>T	chr1.hg19:g.7798217C>T	ENSP00000306522:p.Thr1286Ile	0					CAMTA1_ENST00000439411.2_Missense_Mutation_p.T1286I	p.T1286I	NM_015215.2	NP_056030.1	0	1	1	1.921568	Q9Y6Y1	CMTA1_HUMAN		16	4064	+	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)	A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	0	1	hg19	c.3857C>T	CCDS30576.1	0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.38|13.38	2.220885|2.220885	0.39201|0.39201	0.0|0.0	2.33E-4|2.33E-4	ENSG00000171735|ENSG00000171735	ENST00000495233|ENST00000303635;ENST00000439411;ENST00000414738;ENST00000303646	.|T;T	.|0.21191	.|2.03;2.02	5.06|5.06	4.13|4.13	0.48395|0.48395	5.06|5.06	4.13|4.13	0.48395|0.48395	.|.	.|0.382752	.|0.30732	.|N	.|0.008991	T|T	0.16854|0.16854	0.0405|0.0405	L|L	0.36672|0.36672	1.1|1.1	0.33546|0.33546	D|D	0.595455|0.595455	.|B;B;B;B	.|0.31599	.|0.33;0.112;0.138;0.183	.|B;B;B;B	.|0.23716	.|0.048;0.01;0.013;0.016	T|T	0.14783|0.14783	-1.0460|-1.0460	5|10	.|0.34782	.|T	.|0.22	-0.2018|-0.2018	15.0419|15.0419	0.71796|0.71796	0.1432:0.8568:0.0:0.0|0.1432:0.8568:0.0:0.0	.|.	.|1286;373;242;1286	.|Q9Y6Y1-2;B4DXR3;Q7Z7P1;Q9Y6Y1	.|.;.;.;CMTA1_HUMAN	Y|I	243|1286;1286;373;242	.|ENSP00000306522:T1286I;ENSP00000402561:T1286I	.|ENSP00000306522:T1286I	H|T	+|+	1|2	0|0	0|0	CAMTA1|CAMTA1	7720804|7720804	7720804|7720804	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	3.644000|3.644000	0.54381|0.54381	1.213000|1.213000	0.43380|0.43380	0.655000|0.655000	0.94253|0.94253	CAC|ACA	0.203318		TCGA-2J-AAB8-01A-12D-A40W-08	0.552	CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	0	0	1		15	2	2	1		1	1	46		46	45	1	1.810000	-7.182630	1	0.270000	NM_015215			5	6		201	194	0		0			1	0	46	0		0.015032	0	0	0	0	0	0	5	201
IL23R	149233	broad.mit.edu	37	1	67724439	67724439	+	Silent	SNP	C	C	G			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:67724439C>G	ENST00000347310.5	+	11	1689	c.1518C>G	c.(1516-1518)tcC>tcG	p.S506S	IL23R_ENST00000473881.1_3'UTR|IL23R_ENST00000371002.1_3'UTR|IL23R_ENST00000395227.1_Silent_p.S251S	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	506					defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|interleukin-23-mediated signaling pathway (GO:0038155)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to interferon-gamma (GO:0034341)|response to lipopolysaccharide (GO:0032496)	interleukin-23 receptor complex (GO:0072536)|receptor complex (GO:0043235)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						AAATTACTTCCTTAACACTTA	0.353																																						ENST00000347310.5	0.530000	1.700000e-01	0.430000	2.400000e-01	0.320000	0.343033	0.320000	0.320000																										0				21						c.(1516-1518)tcC>tcG		interleukin 23 receptor							56.0	56.0	56.0					1																	67724439		2203	4300	6503	SO:0001819	synonymous_variant	149233	0	0					g.chr1:67724439C>G	AF461422	CCDS637.1	1p31.2	2008-02-05			ENSG00000162594	ENSG00000162594			19100	protein-coding gene	gene with protein product		607562				12023369	Standard	NM_144701		Approved	IL-23R	uc001ddo.3	Q5VWK5	OTTHUMG00000009092	ENST00000347310.5:c.1518C>G	chr1.hg19:g.67724439C>G		0					IL23R_ENST00000371002.1_3'UTR|IL23R_ENST00000395227.1_Silent_p.S251S|IL23R_ENST00000473881.1_3'UTR	p.S506S	NM_144701.2	NP_653302.2	0	1	1	1.909717	Q5VWK5	IL23R_HUMAN		11	1689	+			C9JGX4|Q4VGP1|Q4VGP2|Q4VGP3|Q4VGP4|Q4VGP5|Q4VGP6|Q5VWK7|Q8IW84|Q8NFQ9|Q96AS1	Silent	SNP	ENST00000347310.5	1	1	hg19	c.1518C>G	CCDS637.1	0	.	.	.	.	.	.	.	.	.	.	C	2.832	-0.242526	0.05906	.	.	ENSG00000162594	ENST00000425614	.	.	.	5.71	1.0	0.19881	5.71	1.0	0.19881	.	.	.	.	.	T	0.09158	0.0226	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36065	-0.9763	4	.	.	.	-36.091	3.472	0.07570	0.1722:0.4723:0.0:0.3555	.	.	.	.	R	268	.	.	P	+	2	0	0	IL23R	67497027	67497027	0.000000	0.05858	0.001000	0.08648	0.012000	0.07955	-0.056000	0.11787	-0.077000	0.12752	0.650000	0.86243	CCT	0.199781		TCGA-2J-AAB8-01A-12D-A40W-08	0.353	IL23R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025199.2	1	0	1		2	2	2	0		0	0	50		50	50	1	1.810000	-2.939154	1	0.270000	NM_144701			12	12		238	236	0		1	0		0	0	50	0		0.999140	0	0	0	0	1	0	12	238
OR2M4	26245	broad.mit.edu	37	1	248402643	248402643	+	Missense_Mutation	SNP	C	C	T	rs144805988		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr1:248402643C>T	ENST00000306687.1	+	1	413	c.413C>T	c.(412-414)cCg>cTg	p.P138L		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	138					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P138L(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTCATGAATCCGAAACTCTGT	0.483													c|||	1	0.000199681	0.0	0.0	5008	,	,		21503	0.0		0.0	False		,,,				2504	0.001					ENST00000306687.1	1.000000	9.900000e-01	1.000000	9.900000e-01	0.990000	0.999730	0.990000	1.000000																										1	Substitution - Missense(1)	p.P138L(1)	lung(1)	50						c.(412-414)cCg>cTg		olfactory receptor, family 2, subfamily M, member 4		C	LEU/PRO	0,4406		0,0,2203	165.0	138.0	147.0		413	-0.6	0.0	1	dbSNP_134	147	2,8598	2.2+/-6.3	0,2,4298	no	missense	OR2M4	NM_017504.1	98	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	138/312	248402643	2,13004	2203	4300	6503	SO:0001583	missense	26245	23	121412	45				g.chr1:248402643C>T	X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"""GPCR / Class A : Olfactory receptors"""	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.413C>T	chr1.hg19:g.248402643C>T	ENSP00000306688:p.Pro138Leu	0						p.P138L	NM_017504.1	NP_059974.1	1	2	3	2.110234	Q96R27	OR2M4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)	1	413	+	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		Q15611|Q8NG82	Missense_Mutation	SNP	ENST00000306687.1	1	1	hg19	c.413C>T	CCDS31108.1	1	.	.	.	.	.	.	.	.	.	.	c	0.019	-1.462993	0.01062	0.0	2.33E-4	ENSG00000171180	ENST00000306687	T	0.00526	6.8	3.48	-0.649	0.11461	3.48	-0.649	0.11461	GPCR, rhodopsin-like superfamily (1);	1.195430	0.06309	N	0.702303	T	0.00440	0.0014	L	0.46670	1.46	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.43491	-0.9388	10	0.29301	T	0.29	.	2.7909	0.05388	0.294:0.4613:0.097:0.1477	.	138	Q96R27	OR2M4_HUMAN	L	138	ENSP00000306688:P138L	ENSP00000306688:P138L	P	+	2	0	0	OR2M4	246469266	246469266	0.000000	0.05858	0.002000	0.10522	0.039000	0.13416	-0.758000	0.04766	-0.245000	0.09625	-0.414000	0.06135	CCG	0.281637		TCGA-2J-AAB8-01A-12D-A40W-08	0.483	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1	1	0	1		2	2	2	0		0	0	85		85	85	1	1.810000	-2.734202	1	0.270000	NM_017504			74	74		351	349	1		1			0	0	85	0		1.000000	0	0	0	0	0	0	74	351
ADRA1D	146	broad.mit.edu	37	20	4202204	4202204	+	Missense_Mutation	SNP	G	G	A	rs147522815		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr20:4202204G>A	ENST00000379453.4	-	2	1801	c.1685C>T	c.(1684-1686)gCc>gTc	p.A562V		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	562				KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1). {ECO:0000305}.	adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	GCTGTAGTCGGCCAATTCGTA	0.667											OREG0025743	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000379453.4	0.310000	5.000000e-02	0.230000	9.000000e-02	0.150000	0.168149	0.150000	0.140000																										0				14						c.(1684-1686)gCc>gTc		adrenoceptor alpha 1D	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)						34.0	37.0	36.0					20																	4202204		2203	4300	6503	SO:0001583	missense	146	0	0					g.chr20:4202204G>A	U03864	CCDS13079.1	20p13	2012-08-08	2012-05-09		ENSG00000171873	ENSG00000171873		"""GPCR / Class A : Adrenoceptors : alpha"""	280	protein-coding gene	gene with protein product		104219	"""adrenergic, alpha-1D-, receptor"""			8039425	Standard	NM_000678		Approved	ADRA1R, ADRA1A, ADRA1	uc002wkr.2	P25100	OTTHUMG00000031779	ENST00000379453.4:c.1685C>T	chr20.hg19:g.4202204G>A	ENSP00000368766:p.Ala562Val	0		OREG0025743	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	617		p.A562V	NM_000678.3	NP_000669.1	0	1	1	1.964838	P25100	ADA1D_HUMAN		2	1801	-			Q9NPY0	Missense_Mutation	SNP	ENST00000379453.4	0	1	hg19	c.1685C>T	CCDS13079.1	0	.	.	.	.	.	.	.	.	.	.	G	14.72	2.618816	0.46736	.	.	ENSG00000171873	ENST00000379453	T	0.59364	0.27	3.62	-0.0134	0.13984	3.62	-0.0134	0.13984	.	.	.	.	.	T	0.39279	0.1072	L	0.29908	0.895	0.23089	N	0.99832	B	0.27498	0.18	B	0.22601	0.04	T	0.20174	-1.0283	9	0.32370	T	0.25	.	6.836	0.23937	0.0:0.1711:0.5057:0.3231	.	562	P25100	ADA1D_HUMAN	V	562	ENSP00000368766:A562V	ENSP00000368766:A562V	A	-	2	0	0	ADRA1D	4150204	4150204	0.998000	0.40836	0.119000	0.21687	0.634000	0.38068	3.407000	0.52644	0.257000	0.21650	0.305000	0.20034	GCC	0.238115		TCGA-2J-AAB8-01A-12D-A40W-08	0.667	ADRA1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077812.2	0	0	1		2	2	2	0		0	0	46		46	46	1	1.810000	-2.737349	1	0.270000	NM_000678			5	5		243	238	0		1			0	0	46	0		0.934777	0	0	0	0	0	0	5	243
CRKL	1399	broad.mit.edu	37	22	21288172	21288172	+	Silent	SNP	C	C	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr22:21288172C>A	ENST00000354336.3	+	2	926	c.417C>A	c.(415-417)gcC>gcA	p.A139A		NM_005207.3	NP_005198.1	P46109	CRKL_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog-like	139	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				activation of MAPKK activity (GO:0000186)|anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|heart development (GO:0007507)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|parathyroid gland development (GO:0060017)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|thymus development (GO:0048538)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)	poly(A) RNA binding (GO:0044822)|SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)			GGAATGATGCCGAAGACCTGC	0.502																																					Pancreas(85;3 1441 23889 42519 42763)	ENST00000354336.3	0.580000	2.700000e-01	0.500000	3.400000e-01	0.410000	0.424189	0.410000	0.410000																										0				14						c.(415-417)gcC>gcA		v-crk avian sarcoma virus CT10 oncogene homolog-like							123.0	126.0	125.0					22																	21288172		2203	4300	6503	SO:0001819	synonymous_variant	1399	0	0					g.chr22:21288172C>A		CCDS13785.1	22q11.21	2013-07-09	2013-07-09		ENSG00000099942	ENSG00000099942		"""SH2 domain containing"""	2363	protein-coding gene	gene with protein product		602007				8361759, 8798523	Standard	NM_005207		Approved		uc002ztf.2	P46109	OTTHUMG00000150807	ENST00000354336.3:c.417C>A	chr22.hg19:g.21288172C>A		1						p.A139A	NM_005207.3	NP_005198.1	0	0	0	1.834852	P46109	CRKL_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)	2	926	+	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	A8KA44|D3DX35	Silent	SNP	ENST00000354336.3	1	1	hg19	c.417C>A	CCDS13785.1	0																																																																																								0.181614		TCGA-2J-AAB8-01A-12D-A40W-08	0.502	CRKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320158.1	0	0	1		2	2	2	1		1	0	81		81	76	1	1.810000	-2.716709	1	0.270000	NM_005207			26	26		388	387	0		1	0		1	0	81	0		1.000000	1.351651e-01	0	1	0	9	0	26	388
NUP50	10762	broad.mit.edu	37	22	45580351	45580351	+	Missense_Mutation	SNP	G	G	A	rs563414031	byFrequency	TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr22:45580351G>A	ENST00000347635.4	+	8	1688	c.1222G>A	c.(1222-1224)Gtt>Att	p.V408I	NUP50_ENST00000407019.2_Missense_Mutation_p.V380I|NUP50_ENST00000396096.2_Missense_Mutation_p.V380I|NUP50_ENST00000425733.2_Missense_Mutation_p.V158I	NM_007172.3	NP_009103.2	Q9UKX7	NUP50_HUMAN	nucleoporin 50kDa	408	RanBD1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|intracellular transport (GO:0046907)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9		Ovarian(80;0.00965)|all_neural(38;0.0244)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		ATTGCTGAACGTTCTGATTCC	0.393													.|||	2	0.000399361	0.0008	0.0	5008	,	,		14224	0.001		0.0	False		,,,				2504	0.0					ENST00000347635.4	0.740000	3.300000e-01	0.640000	4.200000e-01	0.520000	0.533426	0.520000	0.510000																										0				9						c.(1222-1224)Gtt>Att		nucleoporin 50kDa							98.0	82.0	87.0					22																	45580351		2203	4300	6503	SO:0001583	missense	10762	4	121412	39				g.chr22:45580351G>A	AF107840	CCDS14062.1, CCDS14063.1	22q13.3	2007-01-22	2002-08-29		ENSG00000093000	ENSG00000093000			8065	protein-coding gene	gene with protein product		604646	"""nucleoporin 50kD"""	NPAP60L		10449902	Standard	XM_005261312		Approved		uc003bfr.3	Q9UKX7	OTTHUMG00000151265	ENST00000347635.4:c.1222G>A	chr22.hg19:g.45580351G>A	ENSP00000345895:p.Val408Ile	1					NUP50_ENST00000407019.2_Missense_Mutation_p.V380I|NUP50_ENST00000396096.2_Missense_Mutation_p.V380I|NUP50_ENST00000425733.2_Missense_Mutation_p.V158I	p.V408I	NM_007172.3	NP_009103.2	0	0	0	1.831194	Q9UKX7	NUP50_HUMAN		8	1688	+		Ovarian(80;0.00965)|all_neural(38;0.0244)	B1AHA4|B2RB15|O75644|Q8N6V5|Q9NPM9|Q9NPR6|Q9P1K5	Missense_Mutation	SNP	ENST00000347635.4	1	1	hg19	c.1222G>A	CCDS14062.1	0	.	.	.	.	.	.	.	.	.	.	G	3.527	-0.096540	0.07010	.	.	ENSG00000093000	ENST00000347635;ENST00000407019;ENST00000425733;ENST00000396096	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	5.61	3.54	0.40534	5.61	3.54	0.40534	Pleckstrin homology-type (1);Ran binding protein 1 (3);	0.172748	0.51477	N	0.000084	T	0.15435	0.0372	N	0.01473	-0.845	0.35957	D	0.834318	B	0.02656	0.0	B	0.12156	0.007	T	0.09907	-1.0653	10	0.20519	T	0.43	-17.1865	8.726	0.34469	0.2845:0.0:0.7155:0.0	.	408	Q9UKX7	NUP50_HUMAN	I	408;380;158;380	ENSP00000345895:V408I;ENSP00000385555:V380I;ENSP00000406928:V158I;ENSP00000379403:V380I	ENSP00000345895:V408I	V	+	1	0	0	NUP50	43959015	43959015	1.000000	0.71417	0.040000	0.18447	0.925000	0.55904	3.592000	0.53993	0.849000	0.35215	0.655000	0.94253	GTT	0.179130		TCGA-2J-AAB8-01A-12D-A40W-08	0.393	NUP50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321993.2	1	0	1		2	2	2	0		0	0	63		63	63	1	1.810000	-7.875616	1	0.270000				21	21		244	238	1		1	1		0	0	63	0		0.999997	6.502932e-01	0	5	0	22	0	21	244
FASTKD1	79675	broad.mit.edu	37	2	170428438	170428438	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr2:170428438G>C	ENST00000453153.2	-	2	448	c.102C>G	c.(100-102)atC>atG	p.I34M	FASTKD1_ENST00000453929.2_Missense_Mutation_p.I34M	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	34					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						GTTCACAACTGATGGGTCGAA	0.358																																						ENST00000453153.2	1.000000	4.000000e-01	0.790000	4.900000e-01	0.610000	0.648395	0.610000	0.590000																										0				37						c.(100-102)atC>atG		FAST kinase domains 1							76.0	72.0	73.0					2																	170428438		2203	4300	6503	SO:0001583	missense	79675	0	0					g.chr2:170428438G>C	AL832058	CCDS33318.1, CCDS63051.1	2q31.1	2008-02-05			ENSG00000138399	ENSG00000138399			26150	protein-coding gene	gene with protein product						11347906	Standard	NM_024622		Approved	FLJ21901	uc002uev.4	Q53R41	OTTHUMG00000154953	ENST00000453153.2:c.102C>G	chr2.hg19:g.170428438G>C	ENSP00000400513:p.Ile34Met	0					FASTKD1_ENST00000453929.2_Missense_Mutation_p.I34M	p.I34M	NM_024622.3	NP_078898.3	1	2	3	2.115320	Q53R41	FAKD1_HUMAN		2	448	-			Q8N583|Q8TEA9|Q96JM5|Q96N71|Q9H6T4	Missense_Mutation	SNP	ENST00000453153.2	1	1	hg19	c.102C>G	CCDS33318.1	0	.	.	.	.	.	.	.	.	.	.	G	8.662	0.900868	0.17686	.	.	ENSG00000138399	ENST00000453153;ENST00000453929;ENST00000438035;ENST00000445210	T;T	0.17854	2.25;2.25	5.07	0.625	0.17665	5.07	0.625	0.17665	.	0.967032	0.08552	N	0.928866	T	0.13756	0.0333	L	0.36672	1.1	0.09310	N	1	P;P;P	0.51240	0.906;0.943;0.906	B;P;B	0.46940	0.332;0.532;0.264	T	0.13388	-1.0511	10	0.34782	T	0.22	-16.7467	0.4362	0.00479	0.2023:0.2566:0.2195:0.3215	.	34;34;34	D3DPC4;Q53R41-2;Q53R41	.;.;FAKD1_HUMAN	M	34	ENSP00000400513:I34M;ENSP00000403229:I34M	ENSP00000396769:I34M	I	-	3	3	3	FASTKD1	170136684	170136684	0.020000	0.18652	0.035000	0.18076	0.637000	0.38172	0.239000	0.18023	-0.051000	0.13334	0.591000	0.81541	ATC	0.282591		TCGA-2J-AAB8-01A-12D-A40W-08	0.358	FASTKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337788.2	1	0	1		2	2	2	0		0	0	73		73	72	1	1.810000	-8.179766	1	0.270000	NM_024622			25	25		293	292	0		1	0		0	0	73	0		1.000000	2.551270e-01	0	1	0	11	0	25	293
COL3A1	1281	broad.mit.edu	37	2	189850473	189850473	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr2:189850473G>A	ENST00000304636.3	+	4	586	c.416G>A	c.(415-417)gGa>gAa	p.G139E	COL3A1_ENST00000317840.5_Missense_Mutation_p.G139E	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	139					aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	GGCCCCCCTGGAATCTGTGAA	0.448																																						ENST00000304636.3	1.000000	2.500000e-01	0.740000	3.600000e-01	0.500000	0.552598	0.500000	0.460000																										0				126						c.(415-417)gGa>gAa		collagen, type III, alpha 1	Collagenase(DB00048)						43.0	46.0	45.0					2																	189850473		2203	4300	6503	SO:0001583	missense	1281	0	0					g.chr2:189850473G>A	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.416G>A	chr2.hg19:g.189850473G>A	ENSP00000304408:p.Gly139Glu	0					COL3A1_ENST00000317840.5_Missense_Mutation_p.G139E	p.G139E	NM_000090.3	NP_000081	1	2	3	2.115320	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)	4	586	+			D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	1	1	hg19	c.416G>A	CCDS2297.1	0	.	.	.	.	.	.	.	.	.	.	G	25.8	4.673160	0.88445	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.99353	-5.77;-5.77	4.62	4.62	0.57501	4.62	4.62	0.57501	.	0.000000	0.40908	D	0.000991	D	0.99327	0.9764	M	0.73598	2.24	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.99087	1.0839	10	0.72032	D	0.01	.	17.6469	0.88151	0.0:0.0:1.0:0.0	.	139	P02461	CO3A1_HUMAN	E	139	ENSP00000304408:G139E;ENSP00000315243:G139E	ENSP00000304408:G139E	G	+	2	0	0	COL3A1	189558718	189558718	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.104000	0.94239	2.414000	0.81942	0.313000	0.20887	GGA	0.282591		TCGA-2J-AAB8-01A-12D-A40W-08	0.448	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	1	0	1		2	2	2	0		0	0	24		24	24	1	1.810000	-13.646850	1	0.270000	NM_000090			10	10		151	149	0		1	0		0	0	24	0		0.996981	1	0	0	0	2736	0	10	151
ADCY3	109	broad.mit.edu	37	2	25051001	25051001	+	Silent	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr2:25051001G>A	ENST00000260600.5	-	13	3053	c.2202C>T	c.(2200-2202)ccC>ccT	p.P734P	ADCY3_ENST00000405392.1_Intron|RP11-443B20.1_ENST00000606114.1_RNA|ADCY3_ENST00000450524.1_5'UTR	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	734					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TTGCATTGCTGGGTCCCGTGT	0.602											OREG0014498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000260600.5	0.710000	2.300000e-01	0.570000	3.200000e-01	0.430000	0.454430	0.430000	0.430000																										0				44						c.(2200-2202)ccC>ccT		adenylate cyclase 3							62.0	53.0	56.0					2																	25051001		2203	4300	6503	SO:0001819	synonymous_variant	109	0	0					g.chr2:25051001G>A	AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.2202C>T	chr2.hg19:g.25051001G>A		0		OREG0014498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	776	RP11-443B20.1_ENST00000606114.1_RNA|ADCY3_ENST00000450524.1_5'UTR|ADCY3_ENST00000405392.1_Intron	p.P734P	NM_004036.3	NP_004027.2	0	1	1	1.959722	O60266	ADCY3_HUMAN		13	3053	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)		B3KT86|Q53T54|Q9UDB1	Silent	SNP	ENST00000260600.5	1	1	hg19	c.2202C>T	CCDS1715.1	0																																																																																								0.226121		TCGA-2J-AAB8-01A-12D-A40W-08	0.602	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211574.2	0	0	1		2	4	2	1		1	0	41		41	41	1	1.810000	-3.146440	1	0.270000				11	11		168	164	0		1	0		1	0	41	0		0.998294	6.446518e-02	0	1	0	21	0	11	168
RTN4	57142	broad.mit.edu	37	2	55252908	55252908	+	Missense_Mutation	SNP	A	A	C			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr2:55252908A>C	ENST00000337526.6	-	3	2570	c.2327T>G	c.(2326-2328)tTt>tGt	p.F776C	RTN4_ENST00000404909.1_Missense_Mutation_p.F570C|RTN4_ENST00000354474.6_Missense_Mutation_p.F544C|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000405240.1_Missense_Mutation_p.F570C|RTN4_ENST00000394611.2_Missense_Mutation_p.F570C|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357376.3_Missense_Mutation_p.F570C	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	776					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						CATTGACTCAAATGAAGTCTC	0.363																																						ENST00000337526.6	1.000000	5.600000e-01	0.890000	6.500000e-01	0.770000	0.779862	0.770000	1.000000																										0				36						c.(2326-2328)tTt>tGt		reticulon 4							52.0	52.0	52.0					2																	55252908		2203	4297	6500	SO:0001583	missense	57142	0	0					g.chr2:55252908A>C	AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.2327T>G	chr2.hg19:g.55252908A>C	ENSP00000337838:p.Phe776Cys	0					RTN4_ENST00000405240.1_Missense_Mutation_p.F570C|RTN4_ENST00000404909.1_Missense_Mutation_p.F570C|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000354474.6_Missense_Mutation_p.F544C|RTN4_ENST00000394611.2_Missense_Mutation_p.F570C|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000357376.3_Missense_Mutation_p.F570C	p.F776C	NM_020532.4	NP_065393.1	0	1	1	1.959722	Q9NQC3	RTN4_HUMAN		3	2570	-			O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Missense_Mutation	SNP	ENST00000337526.6	1	1	hg19	c.2327T>G	CCDS42684.1	0	.	.	.	.	.	.	.	.	.	.	A	2.415	-0.334465	0.05278	.	.	ENSG00000115310	ENST00000405240;ENST00000357376;ENST00000337526;ENST00000394611;ENST00000404909;ENST00000354474	T;T;T;T;T;T	0.17854	2.25;2.25;2.25;2.25;2.25;2.25	5.45	-0.531	0.11894	5.45	-0.531	0.11894	.	1.868710	0.02414	N	0.081987	T	0.15132	0.0365	L	0.40543	1.245	0.09310	N	1	P	0.36438	0.553	B	0.34824	0.19	T	0.25710	-1.0124	10	0.59425	D	0.04	0.8146	5.228	0.15406	0.3847:0.0:0.4705:0.1449	.	776	Q9NQC3	RTN4_HUMAN	C	570;570;776;570;570;544	ENSP00000384471:F570C;ENSP00000349944:F570C;ENSP00000337838:F776C;ENSP00000378109:F570C;ENSP00000385650:F570C;ENSP00000346465:F544C	ENSP00000337838:F776C	F	-	2	0	0	RTN4	55106412	55106412	0.000000	0.05858	0.000000	0.03702	0.359000	0.29487	-0.187000	0.09656	-0.023000	0.13963	-0.242000	0.12053	TTT	0.226121		TCGA-2J-AAB8-01A-12D-A40W-08	0.363	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1	1	0	1		2	2	2	0		0	0	84		84	80	1	1.810000	-20.000000	1	0.270000				38	37		305	305	1		1			0	0	84	0		1.000000	0	0	0	0	0	0	38	305
IKZF2	22807	broad.mit.edu	37	2	213914507	213914507	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr2:213914507G>C	ENST00000434687.1	-	6	813	c.504C>G	c.(502-504)ttC>ttG	p.F168L	IKZF2_ENST00000342002.2_Missense_Mutation_p.F174L|IKZF2_ENST00000451136.2_Missense_Mutation_p.F142L|IKZF2_ENST00000413091.3_Missense_Mutation_p.F168L|IKZF2_ENST00000457361.1_Missense_Mutation_p.F168L|IKZF2_ENST00000374319.4_Missense_Mutation_p.F142L|IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000421754.2_Missense_Mutation_p.F142L			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	168					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		AAGGACATTTGAACGGCTTCT	0.493																																						ENST00000434687.1	1.000000	1.800000e-01	0.510000	2.500000e-01	0.350000	0.420448	0.350000	0.330000																										0				23						c.(502-504)ttC>ttG		IKAROS family zinc finger 2 (Helios)							92.0	81.0	85.0					2																	213914507		2203	4300	6503	SO:0001583	missense	22807	0	0					g.chr2:213914507G>C	AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13177	protein-coding gene	gene with protein product		606234	"""zinc finger protein, subfamily 1A, 2 (Helios)"""	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.504C>G	chr2.hg19:g.213914507G>C	ENSP00000412869:p.Phe168Leu	0					IKZF2_ENST00000342002.2_Missense_Mutation_p.F174L|IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000421754.2_Missense_Mutation_p.F142L|IKZF2_ENST00000374319.4_Missense_Mutation_p.F142L|IKZF2_ENST00000413091.3_Missense_Mutation_p.F168L|IKZF2_ENST00000451136.2_Missense_Mutation_p.F142L|IKZF2_ENST00000457361.1_Missense_Mutation_p.F168L	p.F168L			1	2	3	2.115320	Q9UKS7	IKZF2_HUMAN		6	813	-		Esophageal squamous(248;0.0559)|Renal(323;0.218)	Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Missense_Mutation	SNP	ENST00000434687.1	1	1	hg19	c.504C>G	CCDS2395.1	0	.	.	.	.	.	.	.	.	.	.	G	34	5.358031	0.95854	.	.	ENSG00000030419	ENST00000457361;ENST00000342002;ENST00000434687;ENST00000374319;ENST00000451136;ENST00000421754;ENST00000413091	T;T;T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;1.98;0.45;1.98;-0.17	6.03	6.03	0.97812	6.03	6.03	0.97812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.74329	0.3702	L	0.52823	1.66	0.80722	D	1	D;D;D;D	0.89917	0.99;0.974;1.0;0.994	P;D;D;D	0.79108	0.825;0.969;0.985;0.992	T	0.73984	-0.3810	10	0.54805	T	0.06	-7.0219	13.7134	0.62682	0.0699:0.0:0.9301:0.0	.	142;142;142;168	C9JCG7;C9JTM9;Q9UKS7-2;Q9UKS7	.;.;.;IKZF2_HUMAN	L	168;174;168;142;142;142;168	ENSP00000410447:F168L;ENSP00000342876:F174L;ENSP00000412869:F168L;ENSP00000363439:F142L;ENSP00000395203:F142L;ENSP00000399574:F142L;ENSP00000402334:F168L	ENSP00000342876:F174L	F	-	3	2	2	IKZF2	213622752	213622752	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.709000	0.61867	2.861000	0.98227	0.655000	0.94253	TTC	0.282591		TCGA-2J-AAB8-01A-12D-A40W-08	0.493	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3	0	0	1		2	2	2	0		0	0	50		50	50	1	1.810000	-13.555380	1	0.270000	NM_016260			12	12		261	257	0		1			0	0	50	0		0.999096	0	0	0	0	0	0	12	261
ATP2B2	491	broad.mit.edu	37	3	10443850	10443850	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr3:10443850C>T	ENST00000352432.4	-	3	649	c.580G>A	c.(580-582)Gtg>Atg	p.V194M	ATP2B2_ENST00000383800.4_Missense_Mutation_p.V194M|ATP2B2_ENST00000360273.2_Missense_Mutation_p.V194M|ATP2B2_ENST00000343816.4_Missense_Mutation_p.V194M|ATP2B2_ENST00000397077.1_Missense_Mutation_p.V194M			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	194					auditory receptor cell stereocilium organization (GO:0060088)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cerebellar granule cell differentiation (GO:0021707)|cerebellar Purkinje cell differentiation (GO:0021702)|cGMP metabolic process (GO:0046068)|cochlea development (GO:0090102)|cytosolic calcium ion homeostasis (GO:0051480)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotion (GO:0040011)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|organelle organization (GO:0006996)|otolith mineralization (GO:0045299)|positive regulation of calcium ion transport (GO:0051928)|regulation of cell size (GO:0008361)|regulation of synaptic plasticity (GO:0048167)|sensory perception of sound (GO:0007605)|serotonin metabolic process (GO:0042428)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cilium (GO:0005929)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calcium-dependent ATPase activity (GO:0030899)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GCCCGGACCACGGTAAATTTC	0.567																																					Ovarian(125;1619 1709 15675 19819 38835)	ENST00000352432.4	0.520000	3.000000e-01	0.470000	3.500000e-01	0.400000	0.414336	0.400000	0.410000																										0				74						c.(580-582)Gtg>Atg		ATPase, Ca++ transporting, plasma membrane 2							136.0	148.0	144.0					3																	10443850		2203	4300	6503	SO:0001583	missense	491	1	121412	40				g.chr3:10443850C>T	X63575	CCDS2601.1, CCDS33701.1	3p25.3	2010-04-20	2001-12-04		ENSG00000157087	ENSG00000157087	3.6.3.8	"""ATPases / P-type"""	815	protein-coding gene	gene with protein product	"""plasma membrane Ca2+ pump 2"", ""plasma membrane calcium-transporting ATPase 2"""	108733				1313367	Standard	NM_001001331		Approved	PMCA2	uc003bvt.3	Q01814	OTTHUMG00000128679	ENST00000352432.4:c.580G>A	chr3.hg19:g.10443850C>T	ENSP00000324172:p.Val194Met	1					ATP2B2_ENST00000397077.1_Missense_Mutation_p.V194M|ATP2B2_ENST00000383800.4_Missense_Mutation_p.V194M|ATP2B2_ENST00000360273.2_Missense_Mutation_p.V194M|ATP2B2_ENST00000343816.4_Missense_Mutation_p.V194M	p.V194M			0	1	1	1.814912	Q01814	AT2B2_HUMAN		3	649	-			O00766|Q12994|Q16818	Missense_Mutation	SNP	ENST00000352432.4	1	1	hg19	c.580G>A	CCDS33701.1	0	.	.	.	.	.	.	.	.	.	.	C	31	5.076585	0.94000	.	.	ENSG00000157087	ENST00000352432;ENST00000383800;ENST00000397077;ENST00000360273;ENST00000343816;ENST00000535386;ENST00000452124;ENST00000342354	D;D;D;D;D;D	0.95001	-3.58;-3.58;-3.58;-3.58;-3.58;-3.58	5.44	5.44	0.79542	5.44	5.44	0.79542	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.98585	0.9527	H	0.98525	4.255	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.993;0.997	D	0.99643	1.0989	10	0.87932	D	0	-29.579	19.2768	0.94034	0.0:1.0:0.0:0.0	.	194;206;194	Q01814-7;Q4LE63;Q01814	.;.;AT2B2_HUMAN	M	194;194;194;194;194;160;81;194	ENSP00000324172:V194M;ENSP00000373311:V194M;ENSP00000380267:V194M;ENSP00000353414:V194M;ENSP00000344677:V194M;ENSP00000414854:V81M	ENSP00000342954:V194M	V	-	1	0	0	ATP2B2	10418850	10418850	1.000000	0.71417	0.950000	0.38849	0.951000	0.60555	6.066000	0.71185	2.550000	0.86006	0.467000	0.42956	GTG	0.157384		TCGA-2J-AAB8-01A-12D-A40W-08	0.567	ATP2B2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250576.2	1	0	1		2	2	2	0		0	0	173		173	168	1	1.810000	-9.313001	1	0.270000	NM_001683			51	51		747	731	0		1			0	0	173	0		1.000000	0	0	0	0	0	0	51	747
WNT7A	7476	broad.mit.edu	37	3	13860914	13860914	+	Nonsense_Mutation	SNP	C	C	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr3:13860914C>A	ENST00000285018.4	-	4	881	c.577G>T	c.(577-579)Gag>Tag	p.E193*		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	193					asymmetric protein localization (GO:0008105)|canonical Wnt signaling pathway (GO:0060070)|cartilage condensation (GO:0001502)|cell fate commitment (GO:0045165)|cell proliferation in forebrain (GO:0021846)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system vasculogenesis (GO:0022009)|cerebellar granule cell differentiation (GO:0021707)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment of cell polarity (GO:0030010)|lens fiber cell development (GO:0070307)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neurogenesis (GO:0050768)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|non-canonical Wnt signaling pathway (GO:0035567)|oviduct development (GO:0060066)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of axon diameter (GO:0031133)|response to estradiol (GO:0032355)|sex differentiation (GO:0007548)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|stem cell development (GO:0048864)|synapse organization (GO:0050808)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway involved in wound healing, spreading of epidermal cells (GO:0035659)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						ATGTTCTCCTCCAGGATCTGC	0.657																																						ENST00000285018.4	0.190000	3.000000e-02	0.140000	5.000000e-02	0.090000	0.105073	0.090000	0.090000																										0				24						c.(577-579)Gag>Tag		wingless-type MMTV integration site family, member 7A							88.0	85.0	86.0					3																	13860914		2203	4300	6503	SO:0001587	stop_gained	7476	0	0					g.chr3:13860914C>A	D83175	CCDS2616.1	3p25	2008-07-18			ENSG00000154764	ENSG00000154764		"""Wingless-type MMTV integration sites"""	12786	protein-coding gene	gene with protein product	"""proto-oncogene Wnt7a protein"""	601570				8893824, 9161407	Standard	NM_004625		Approved		uc003bye.1	O00755	OTTHUMG00000129803	ENST00000285018.4:c.577G>T	chr3.hg19:g.13860914C>A	ENSP00000285018:p.Glu193*	1						p.E193*	NM_004625.3	NP_004616.2	0	1	1	1.814912	O00755	WNT7A_HUMAN		4	881	-			Q96H90|Q9Y560	Nonsense_Mutation	SNP	ENST00000285018.4	0	1	hg19	c.577G>T	CCDS2616.1	0	.	.	.	.	.	.	.	.	.	.	c	37	6.310859	0.97462	.	.	ENSG00000154764	ENST00000285018	.	.	.	4.29	4.29	0.51040	4.29	4.29	0.51040	.	0.170785	0.49916	D	0.000132	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.1402	0.86750	0.0:1.0:0.0:0.0	.	.	.	.	X	193	.	ENSP00000285018:E193X	E	-	1	0	0	WNT7A	13835915	13835915	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	7.810000	0.86072	2.121000	0.65114	0.558000	0.71614	GAG	0.157384		TCGA-2J-AAB8-01A-12D-A40W-08	0.657	WNT7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252031.2	0	0	1		16	2	2	0		0	1	78		78	76	1	1.810000	-2.437979	0	0.270000	NM_004625			5	5		354	350	0		0	0		0	0	78	0		0.011242	1.286831e-02	0	0	0	10	0	5	354
MST1R	4486	broad.mit.edu	37	3	49936064	49936064	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr3:49936064A>G	ENST00000296474.3	-	4	1633	c.1606T>C	c.(1606-1608)Tgc>Cgc	p.C536R	CTD-2330K9.2_ENST00000435478.1_RNA|MST1R_ENST00000344206.4_Missense_Mutation_p.C536R	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	536					cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GCCCTTAGGCAACGCCCACAG	0.612																																						ENST00000296474.3	1.000000	7.200000e-01	0.980000	8.200000e-01	0.910000	0.907571	0.910000	1.000000																										0				37						c.(1606-1608)Tgc>Cgc		macrophage stimulating 1 receptor (c-met-related tyrosine kinase)							66.0	70.0	69.0					3																	49936064		2203	4300	6503	SO:0001583	missense	4486	0	0					g.chr3:49936064A>G	X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.1606T>C	chr3.hg19:g.49936064A>G	ENSP00000296474:p.Cys536Arg	1					MST1R_ENST00000344206.4_Missense_Mutation_p.C536R|CTD-2330K9.2_ENST00000435478.1_RNA	p.C536R	NM_002447.2	NP_002438	0	1	1	1.814912	Q04912	RON_HUMAN		4	1633	-			B5A944|B5A945|B5A946|B5A947	Missense_Mutation	SNP	ENST00000296474.3	1	1	hg19	c.1606T>C	CCDS2807.1	1	.	.	.	.	.	.	.	.	.	.	A	21.9	4.221236	0.79464	.	.	ENSG00000164078	ENST00000296474;ENST00000344206	T;T	0.77489	-1.1;-1.1	5.84	5.84	0.93424	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.90563	0.7042	M	0.92026	3.265	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;0.998	D	0.92564	0.6060	10	0.87932	D	0	-23.5053	16.2118	0.82165	1.0:0.0:0.0:0.0	.	430;536;536;536	Q04912-4;Q04912-6;Q04912-5;Q04912	.;.;.;RON_HUMAN	R	536	ENSP00000296474:C536R;ENSP00000341325:C536R	ENSP00000296474:C536R	C	-	1	0	0	MST1R	49911068	49911068	1.000000	0.71417	0.967000	0.41034	0.799000	0.45148	8.290000	0.89925	2.234000	0.73211	0.402000	0.26972	TGC	0.157384		TCGA-2J-AAB8-01A-12D-A40W-08	0.612	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345403.1	1	0	1		2	2	2	0		0	0	48		48	47	1	1.810000	-20.000000	1	0.270000				48	48		258	254	1		1	1		0	0	48	0		1.000000	8.404697e-01	0	19	0	1	0	48	258
STOX2	56977	broad.mit.edu	37	4	184931519	184931519	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr4:184931519G>A	ENST00000308497.4	+	3	2963	c.1528G>A	c.(1528-1530)Gaa>Aaa	p.E510K	STOX2_ENST00000438269.1_Missense_Mutation_p.E510K	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	510					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		AGGGACGCCGGAAGACCTTGC	0.547																																						ENST00000308497.4	1.000000	5.500000e-01	0.990000	7.100000e-01	0.870000	0.855700	0.870000	1.000000																										0				14						c.(1528-1530)Gaa>Aaa		storkhead box 2							39.0	44.0	42.0					4																	184931519		1951	4159	6110	SO:0001583	missense	56977	0	0					g.chr4:184931519G>A	AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.1528G>A	chr4.hg19:g.184931519G>A	ENSP00000311257:p.Glu510Lys	1					STOX2_ENST00000438269.1_Missense_Mutation_p.E510K	p.E510K	NM_020225.1	NP_064610.1	0	1	1	1.723680	Q9P2F5	STOX2_HUMAN		3	2963	+		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)	A6H8U4|Q9NPS8	Missense_Mutation	SNP	ENST00000308497.4	1	1	hg19	c.1528G>A	CCDS47167.1	1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.971202	0.53614	.	.	ENSG00000173320	ENST00000308497;ENST00000438269	T;T	0.80738	-0.41;-1.41	5.65	5.65	0.86999	5.65	5.65	0.86999	.	0.048167	0.85682	D	0.000000	T	0.76011	0.3928	L	0.29908	0.895	0.80722	D	1	B;B	0.32245	0.361;0.083	B;B	0.34652	0.187;0.057	T	0.75717	-0.3220	10	0.72032	D	0.01	-13.8256	19.9142	0.97043	0.0:0.0:1.0:0.0	.	510;510	Q9P2F5-2;Q9P2F5	.;STOX2_HUMAN	K	510	ENSP00000311257:E510K;ENSP00000390127:E510K	ENSP00000311257:E510K	E	+	1	0	0	STOX2	185168513	185168513	1.000000	0.71417	0.970000	0.41538	0.426000	0.31534	9.263000	0.95617	2.941000	0.99782	0.655000	0.94253	GAA	0.161305		TCGA-2J-AAB8-01A-12D-A40W-08	0.547	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	1	0	1		2	2	2	0		0	0	19		19	19	1	1.810000	-19.996730	1	0.270000	NM_020225			12	12		58	57	1		1	0		0	0	19	0		0.999347	0	0	1	0	0	0	12	58
LIN54	132660	broad.mit.edu	37	4	83891489	83891489	+	Silent	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr4:83891489C>T	ENST00000340417.3	-	4	1319	c.942G>A	c.(940-942)tcG>tcA	p.S314S	LIN54_ENST00000505397.1_Silent_p.S314S|LIN54_ENST00000395282.2_3'UTR|LIN54_ENST00000506560.1_Intron|LIN54_ENST00000395283.2_Intron|LIN54_ENST00000510557.1_Silent_p.S93S|LIN54_ENST00000446851.2_Silent_p.S93S|LIN54_ENST00000442461.2_Silent_p.S93S	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 DREAM MuvB core complex component	314					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				CCTTATTTGGCGATTTCAAAG	0.308																																						ENST00000340417.3	0.160000	2.000000e-02	0.120000	4.000000e-02	0.070000	0.087703	0.070000	0.080000																										0				14						c.(940-942)tcG>tcA		lin-54 DREAM MuvB core complex component							170.0	172.0	171.0					4																	83891489		2203	4300	6503	SO:0001819	synonymous_variant	132660	1	121410	32				g.chr4:83891489C>T	BX537919	CCDS3599.1, CCDS47089.1, CCDS75157.1	4q21.22	2014-07-17	2014-07-17		ENSG00000189308	ENSG00000189308			25397	protein-coding gene	gene with protein product	"""CXC domain containing 1"""	613367	"""lin-54 homolog (C. elegans)"""			21498570	Standard	XM_005262749		Approved	MIP120, DKFZp686L1814, JC8.6, CXCDC1	uc003hnx.3	Q6MZP7	OTTHUMG00000130287	ENST00000340417.3:c.942G>A	chr4.hg19:g.83891489C>T		0					LIN54_ENST00000395283.2_Intron|LIN54_ENST00000442461.2_Silent_p.S93S|LIN54_ENST00000505397.1_Silent_p.S314S|LIN54_ENST00000446851.2_Silent_p.S93S|LIN54_ENST00000395282.2_3'UTR|LIN54_ENST00000506560.1_Intron|LIN54_ENST00000510557.1_Silent_p.S93S	p.S314S	NM_194282.2	NP_919258.2	0	0	0	1.945538	Q6MZP7	LIN54_HUMAN		4	1319	-		Hepatocellular(203;0.114)	Q32M68|Q32M69|Q6N071|Q76B60	Silent	SNP	ENST00000340417.3	0	1	hg19	c.942G>A	CCDS3599.1	0																																																																																								0.228330		TCGA-2J-AAB8-01A-12D-A40W-08	0.308	LIN54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252626.2	0	0	1		2	2	2	0		0	0	75		75	74	1	1.810000	-2.196348	0	0.270000	NM_194282			5	5		469	463	0		1	0		0	0	75	0		0.935737	5.487472e-04	0	0	0	3	0	5	469
SPARCL1	8404	broad.mit.edu	37	4	88412840	88412840	+	Silent	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08			G	A	G	G		Inconclusive	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr4:88412840G>A	ENST00000282470.6	-	5	1691	c.1221C>T	c.(1219-1221)gcC>gcT	p.A407A	SPARCL1_ENST00000418378.1_Silent_p.A407A|SPARCL1_ENST00000503414.1_Silent_p.A282A	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	407					signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		CTGCTTTCTTGGCCTTTAGAA	0.393																																						ENST00000282470.6	1.000000	6.300000e-01	1.000000	7.500000e-01	0.880000	0.879089	0.880000	1.000000																										0				21						c.(1219-1221)gcC>gcT		SPARC-like 1 (hevin)							211.0	174.0	186.0					4																	88412840		2203	4300	6503	SO:0001819	synonymous_variant	8404	0	0					g.chr4:88412840G>A	X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"""EF-hand domain containing"""	11220	protein-coding gene	gene with protein product		606041	"""SPARC-like 1 (mast9, hevin)"""			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.1221C>T	chr4.hg19:g.88412840G>A		0					SPARCL1_ENST00000503414.1_Silent_p.A282A|SPARCL1_ENST00000418378.1_Silent_p.A407A	p.A407A	NM_004684.4	NP_004675.3	0	0	0	1.945538	Q14515	SPRL1_HUMAN		5	1691	-			B4E2Z0|E7ESU2|Q14800	Silent	SNP	ENST00000282470.6	1	1	hg19	c.1221C>T	CCDS3622.1	1																																																																																								0.228330		TCGA-2J-AAB8-01A-12D-A40W-08	0.393	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253059.2	1	0	1		2	2	2	0		0	0	46		46	45	1	1.810000	-3.319203	1	0.270000				35	35		240	240	1		1	0		0	0	46	0		1.000000	1	0	0	0	225	0	35	240
STOX2	56977	broad.mit.edu	37	4	184932370	184932370	+	Silent	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr4:184932370G>A	ENST00000308497.4	+	3	3814	c.2379G>A	c.(2377-2379)gaG>gaA	p.E793E	STOX2_ENST00000438269.1_Silent_p.E793E	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	793					embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		CAGAGGAGGAGAAAAATAGAG	0.498																																						ENST00000308497.4	0.960000	2.500000e-01	0.810000	4.000000e-01	0.590000	0.606028	0.590000	0.560000																										0				14						c.(2377-2379)gaG>gaA		storkhead box 2							46.0	49.0	48.0					4																	184932370		1992	4158	6150	SO:0001819	synonymous_variant	56977	0	0					g.chr4:184932370G>A	AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.2379G>A	chr4.hg19:g.184932370G>A		1					STOX2_ENST00000438269.1_Silent_p.E793E	p.E793E	NM_020225.1	NP_064610.1	0	1	1	1.723680	Q9P2F5	STOX2_HUMAN		3	3814	+		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)	A6H8U4|Q9NPS8	Silent	SNP	ENST00000308497.4	0	1	hg19	c.2379G>A	CCDS47167.1	0																																																																																								0.161305		TCGA-2J-AAB8-01A-12D-A40W-08	0.498	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	1	0	1		2	2	2	0		0	0	9		9	9	1	1.810000	-11.502260	1	0.270000	NM_020225			6	6		58	54	0		1	0		0	0	9	0		0.960272	0	0	1	0	0	0	6	58
MEGF10	84466	broad.mit.edu	37	5	126771182	126771182	+	Splice_Site	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr5:126771182G>A	ENST00000274473.6	+	17	2371		c.e17+1		MEGF10_ENST00000503335.2_Splice_Site	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10						homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)		p.?(1)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TGCTCTCAACGTAAGTCTTGT	0.373																																						ENST00000274473.6	0.980000	4.300000e-01	0.840000	5.500000e-01	0.680000	0.698168	0.680000	1.000000																										1	Unknown(1)	p.?(1)	prostate(1)	68						c.e17+1		multiple EGF-like-domains 10							96.0	80.0	85.0					5																	126771182		2203	4300	6503	SO:0001630	splice_region_variant	84466	0	0					g.chr5:126771182G>A	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.2104+1G>A	chr5.hg19:g.126771182G>A		0					MEGF10_ENST00000503335.2_Splice_Site		NM_032446.2	NP_115822.1	0	1	1	1.993259	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	17	2371	+		Prostate(80;0.165)	Q68DE5|Q8WUL3	Splice_Site	SNP	ENST00000274473.6	1	1	hg19		CCDS4142.1	0	.	.	.	.	.	.	.	.	.	.	G	28.0	4.881482	0.91740	.	.	ENSG00000145794	ENST00000503335;ENST00000274473	.	.	.	5.85	5.85	0.93711	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1542	0.98100	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	.	MEGF10	126799081	126799081	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.776000	0.99001	2.767000	0.95098	0.563000	0.77884	.	0.235962		TCGA-2J-AAB8-01A-12D-A40W-08	0.373	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	1	0	1		2	2	2	0		0	0	59		59	56	1	1.810000	-3.221900	1	0.270000	NM_032446	Intron		20	20		187	186	1		1			0	0	59	0		0.999996	0	0	0	0	0	0	20	187
THBS4	7060	broad.mit.edu	37	5	79366517	79366517	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr5:79366517G>A	ENST00000350881.2	+	12	1694	c.1504G>A	c.(1504-1506)Ggc>Agc	p.G502S	CTD-2201I18.1_ENST00000514042.1_RNA|CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Missense_Mutation_p.G411S	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	502					behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		AGACAGAGATGGCATTGGCGA	0.517																																						ENST00000350881.2	0.580000	2.900000e-01	0.500000	3.500000e-01	0.420000	0.430816	0.420000	0.420000																										0				34						c.(1504-1506)Ggc>Agc		thrombospondin 4							144.0	128.0	133.0					5																	79366517		2203	4300	6503	SO:0001583	missense	7060	0	0					g.chr5:79366517G>A		CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.1504G>A	chr5.hg19:g.79366517G>A	ENSP00000339730:p.Gly502Ser	0					CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_Missense_Mutation_p.G411S	p.G502S	NM_003248.4	NP_003239.2	0	1	1	1.993259	P35443	TSP4_HUMAN		12	1694	+		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)	B2R909|Q86TG2	Missense_Mutation	SNP	ENST00000350881.2	1	1	hg19	c.1504G>A	CCDS4049.1	0	.	.	.	.	.	.	.	.	.	.	G	18.90	3.721678	0.68959	.	.	ENSG00000113296	ENST00000350881;ENST00000511733	D;D	0.98914	-4.89;-5.23	5.17	5.17	0.71159	5.17	5.17	0.71159	.	0.049134	0.85682	D	0.000000	D	0.98302	0.9437	M	0.93106	3.38	0.80722	D	1	P	0.46621	0.881	B	0.41619	0.361	D	0.98048	1.0386	10	0.51188	T	0.08	-36.174	12.2251	0.54455	0.0773:0.0:0.9227:0.0	.	502	P35443	TSP4_HUMAN	S	502;411	ENSP00000339730:G502S;ENSP00000422298:G411S	ENSP00000339730:G502S	G	+	1	0	0	THBS4	79402273	79402273	1.000000	0.71417	0.999000	0.59377	0.693000	0.40251	6.549000	0.73900	2.703000	0.92315	0.655000	0.94253	GGC	0.235962		TCGA-2J-AAB8-01A-12D-A40W-08	0.517	THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1	0	0	1		18	2	2	0		0	1	94		94	93	1	1.810000	-6.550211	1	0.270000				30	30		474	468	0		1	0		0	0	94	0		0.970068	9.492904e-01	0	0	0	80	0	30	474
HAPLN1	1404	broad.mit.edu	37	5	82940318	82940318	+	Silent	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr5:82940318G>A	ENST00000274341.4	-	4	1489	c.639C>T	c.(637-639)ggC>ggT	p.G213G		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	213	Link 1. {ECO:0000255|PROSITE- ProRule:PRU00323}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	ATTGCACAGAGCCATCACTGA	0.587																																						ENST00000274341.4	0.760000	3.700000e-01	0.660000	4.500000e-01	0.540000	0.561562	0.540000	0.550000																										0				34						c.(637-639)ggC>ggT		hyaluronan and proteoglycan link protein 1	Hyaluronan(DB08818)						43.0	48.0	46.0					5																	82940318		2203	4300	6503	SO:0001819	synonymous_variant	1404	0	0					g.chr5:82940318G>A		CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"""Immunoglobulin superfamily / V-set domain containing"""	2380	protein-coding gene	gene with protein product	"""Cartilage link protein"", ""hyaluronan and proteoglycan link protein 1"""	115435	"""cartilage linking protein 1"""	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.639C>T	chr5.hg19:g.82940318G>A		0						p.G213G	NM_001884.3	NP_001875.1	0	1	1	1.993259	P10915	HPLN1_HUMAN		4	1489	-		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)	B2R9A9	Silent	SNP	ENST00000274341.4	1	1	hg19	c.639C>T	CCDS4061.1	0																																																																																								0.235962		TCGA-2J-AAB8-01A-12D-A40W-08	0.587	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	1	0	1		2	2	2	0		0	0	50		50	46	1	1.810000	-20.000000	1	0.270000	NM_001884			26	26		309	306	0		1	0		0	0	50	0		1.000000	0	0	0	0	1	0	26	309
PCDHB7	56129	broad.mit.edu	37	5	140554386	140554386	+	Missense_Mutation	SNP	C	C	T	rs558696629		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr5:140554386C>T	ENST00000231137.3	+	1	2144	c.1970C>T	c.(1969-1971)aCg>aTg	p.T657M	PCDHB8_ENST00000239444.2_5'Flank	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	657	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T657M(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCACCGCCACGCTGCACGTG	0.706													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19506	0.0		0.0	False		,,,				2504	0.0					ENST00000231137.3	0.230000	7.000000e-02	0.180000	1.000000e-01	0.130000	0.147391	0.130000	0.140000																										1	Substitution - Missense(1)	p.T657M(1)	endometrium(1)	119						c.(1969-1971)aCg>aTg		protocadherin beta 7							30.0	48.0	42.0					5																	140554386		2135	4229	6364	SO:0001583	missense	56129	1	120648	32				g.chr5:140554386C>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1970C>T	chr5.hg19:g.140554386C>T	ENSP00000231137:p.Thr657Met	0					PCDHB8_ENST00000239444.2_5'Flank	p.T657M	NM_018940.2	NP_061763.1	0	1	1	1.993259	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)	1	2144	+			A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	0	1	hg19	c.1970C>T	CCDS4249.1	0	.	.	.	.	.	.	.	.	.	.	C	14.88	2.667450	0.47677	.	.	ENSG00000113212	ENST00000231137	T	0.55588	0.51	3.98	3.98	0.46160	3.98	3.98	0.46160	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.62792	0.2457	M	0.80332	2.49	0.21967	N	0.999445	D	0.54397	0.966	P	0.49953	0.627	T	0.58244	-0.7670	9	0.66056	D	0.02	.	10.9109	0.47108	0.0:0.9049:0.0:0.0951	.	657	Q9Y5E2	PCDB7_HUMAN	M	657	ENSP00000231137:T657M	ENSP00000231137:T657M	T	+	2	0	0	PCDHB7	140534570	140534570	0.004000	0.15560	0.993000	0.49108	0.665000	0.39181	1.710000	0.37920	1.922000	0.55676	0.449000	0.29647	ACG	0.235962		TCGA-2J-AAB8-01A-12D-A40W-08	0.706	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	0	0	1		2	2	2	0		0	0	125		125	141	1	1.810000	-3.346692	1	0.270000	NM_018940			13	10		654	549	0		1	0		0	0	125	1		0.998594	0	0	0	0	1	0	13	654
GMDS	2762	broad.mit.edu	37	6	2116094	2116094	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr6:2116094C>T	ENST00000380815.4	-	4	525	c.256G>A	c.(256-258)Gat>Aat	p.D86N	GMDS_ENST00000530927.1_Missense_Mutation_p.D56N	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	86					'de novo' GDP-L-fucose biosynthetic process (GO:0042351)|GDP-mannose metabolic process (GO:0019673)|Notch signaling pathway (GO:0007219)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	GDP-mannose 4,6-dehydratase activity (GO:0008446)|NADP+ binding (GO:0070401)		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		TCAGTGAGATCGCCATAGTGC	0.383																																						ENST00000380815.4	0.700000	3.300000e-01	0.610000	4.100000e-01	0.500000	0.515317	0.500000	0.500000																									GMDS/PDE8B(2)	0				21						c.(256-258)Gat>Aat		GDP-mannose 4,6-dehydratase							161.0	149.0	153.0					6																	2116094		2203	4300	6503	SO:0001583	missense	2762	0	0					g.chr6:2116094C>T	AF042377	CCDS4474.1, CCDS58994.1	6p25	2011-09-14			ENSG00000112699	ENSG00000112699	4.2.1.47	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	4369	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 3E, member 1"""	602884				9525924, 19027726	Standard	NM_001500		Approved	GMD, SDR3E1	uc003mtq.3	O60547	OTTHUMG00000016143	ENST00000380815.4:c.256G>A	chr6.hg19:g.2116094C>T	ENSP00000370194:p.Asp86Asn	0					GMDS_ENST00000530927.1_Missense_Mutation_p.D56N	p.D86N	NM_001500.3	NP_001491.1	0	1	1	1.949924	O60547	GMDS_HUMAN		4	525	-	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)	E9PI88|O75357|Q5T954|Q6FH09|Q9UGZ3|Q9UJK9	Missense_Mutation	SNP	ENST00000380815.4	1	1	hg19	c.256G>A	CCDS4474.1	0	.	.	.	.	.	.	.	.	.	.	C	34	5.384293	0.95967	.	.	ENSG00000112699	ENST00000530927;ENST00000380815	D;D	0.95756	-3.8;-3.8	5.64	5.64	0.86602	5.64	5.64	0.86602	NAD-dependent epimerase/dehydratase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.98520	0.9506	H	0.94582	3.555	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99289	1.0898	10	0.87932	D	0	-17.6903	19.7154	0.96115	0.0:1.0:0.0:0.0	.	86	O60547	GMDS_HUMAN	N	56;86	ENSP00000436726:D56N;ENSP00000370194:D86N	ENSP00000370194:D86N	D	-	1	0	0	GMDS	2061093	2061093	1.000000	0.71417	0.952000	0.39060	0.987000	0.75469	7.487000	0.81328	2.664000	0.90586	0.655000	0.94253	GAT	0.222784		TCGA-2J-AAB8-01A-12D-A40W-08	0.383	GMDS-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043380.3	1	0	1		2	2	2	0		0	0	61		61	59	1	1.810000	-3.221858	1	0.270000				26	26		333	330	1		1	1		0	0	61	0		1.000000	9.966404e-01	0	29	0	87	0	26	333
MDN1	23195	broad.mit.edu	37	6	90421896	90421896	+	Missense_Mutation	SNP	C	C	T	rs200448957		TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr6:90421896C>T	ENST00000369393.3	-	49	7625	c.7510G>A	c.(7510-7512)Gaa>Aaa	p.E2504K	MDN1_ENST00000428876.1_Missense_Mutation_p.E2504K			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2504					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.E2504K(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GTATTCACTTCGACTGCATTG	0.408																																						ENST00000369393.3	0.160000	4.000000e-02	0.130000	6.000000e-02	0.080000	0.098090	0.080000	0.090000																										1	Substitution - Missense(1)	p.E2504K(1)	large_intestine(1)	218						c.(7510-7512)Gaa>Aaa		MDN1, midasin homolog (yeast)		C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	151.0	154.0	153.0		7510	3.0	0.0	6		153	0,8600		0,0,4300	no	missense	MDN1	NM_014611.1	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	2504/5597	90421896	1,13005	2203	4300	6503	SO:0001583	missense	23195	2	121412	44				g.chr6:90421896C>T	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.7510G>A	chr6.hg19:g.90421896C>T	ENSP00000358400:p.Glu2504Lys	1					MDN1_ENST00000428876.1_Missense_Mutation_p.E2504K	p.E2504K			0	0	0	1.885427	Q9NU22	MDN1_HUMAN		49	7625	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	0	1	hg19	c.7510G>A	CCDS5024.1	0	.	.	.	.	.	.	.	.	.	.	C	12.21	1.870955	0.33069	2.27E-4	0.0	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03358	3.96;3.96	5.86	2.99	0.34606	5.86	2.99	0.34606	.	0.415320	0.25860	N	0.027823	T	0.00815	0.0027	N	0.19112	0.55	0.26986	N	0.965244	B	0.21688	0.059	B	0.08055	0.003	T	0.47586	-0.9106	10	0.17369	T	0.5	.	11.2019	0.48747	0.0:0.6969:0.238:0.0651	.	2504	Q9NU22	MDN1_HUMAN	K	2504	ENSP00000358400:E2504K;ENSP00000413970:E2504K	ENSP00000358400:E2504K	E	-	1	0	0	MDN1	90478617	90478617	0.030000	0.19436	0.017000	0.16124	0.924000	0.55760	0.999000	0.29757	0.757000	0.33036	0.563000	0.77884	GAA	0.203318		TCGA-2J-AAB8-01A-12D-A40W-08	0.408	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2	0	0	1		2	2	2	0		0	0	159		159	157	1	1.810000	-2.268995	0	0.270000				9	9		677	670	0		1	0		0	0	159	0		0.993981	2.313792e-04	0	0	0	2	0	9	677
MUC17	140453	broad.mit.edu	37	7	100692136	100692136	+	Silent	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr7:100692136G>A	ENST00000306151.4	+	5	12610	c.12546G>A	c.(12544-12546)gaG>gaA	p.E4182E		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4182					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGCCACCGGAGACTATCTCTG	0.522																																						ENST00000306151.4	0.700000	3.500000e-01	0.610000	4.200000e-01	0.510000	0.524188	0.510000	0.510000																										0				343						c.(12544-12546)gaG>gaA		mucin 17, cell surface associated							98.0	88.0	91.0					7																	100692136		2203	4300	6503	SO:0001819	synonymous_variant	140453	1	121412	39				g.chr7:100692136G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.12546G>A	chr7.hg19:g.100692136G>A		0						p.E4182E	NM_001040105.1	NP_001035194.1	0	1	1	1.962996	Q685J3	MUC17_HUMAN		5	12610	+	Lung NSC(181;0.136)|all_lung(186;0.182)		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	1	1	hg19	c.12546G>A	CCDS34711.1	0																																																																																								0.232710		TCGA-2J-AAB8-01A-12D-A40W-08	0.522	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	1	0	1		2	2	2	0		0	0	68		68	64	1	1.810000	-8.571638	1	0.270000	NM_001040105			29	27		369	360	0		1	1		0	0	68	0		1.000000	7.753961e-01	0	16	0	22	0	29	369
TRPV6	55503	broad.mit.edu	37	7	142572369	142572369	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr7:142572369G>A	ENST00000359396.3	-	11	1572	c.1327C>T	c.(1327-1329)Cgg>Tgg	p.R443W	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	443					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CTGATGAGCCGCATCACCATG	0.607																																						ENST00000359396.3	0.520000	8.000000e-02	0.380000	1.500000e-01	0.240000	0.270622	0.240000	0.220000																										0				42						c.(1327-1329)Cgg>Tgg		transient receptor potential cation channel, subfamily V, member 6							77.0	62.0	67.0					7																	142572369		2203	4300	6503	SO:0001583	missense	55503	4	121412	25				g.chr7:142572369G>A	AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.1327C>T	chr7.hg19:g.142572369G>A	ENSP00000352358:p.Arg443Trp	0					RP11-114L10.2_ENST00000438839.1_RNA	p.R443W	NM_018646.3	NP_061116	0	1	1	1.978737	Q9H1D0	TRPV6_HUMAN		11	1572	-	Melanoma(164;0.059)		A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	0	1	hg19	c.1327C>T	CCDS5874.1	0	.	.	.	.	.	.	.	.	.	.	G	16.96	3.267374	0.59540	.	.	ENSG00000165125	ENST00000359396;ENST00000311470;ENST00000436401	D;D	0.88975	-2.45;-2.45	4.52	2.68	0.31781	4.52	2.68	0.31781	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.93854	0.8034	M	0.89287	3.02	0.80722	D	1	D	0.67145	0.996	P	0.62885	0.908	D	0.93494	0.6838	10	0.56958	D	0.05	-32.9258	11.9495	0.52946	0.0:0.0:0.5445:0.4555	.	443	Q9H1D0	TRPV6_HUMAN	W	443;275;66	ENSP00000352358:R443W;ENSP00000411100:R66W	ENSP00000310825:R275W	R	-	1	2	2	TRPV6	142282491	142282491	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	1.441000	0.35035	0.629000	0.30376	0.561000	0.74099	CGG	0.233797		TCGA-2J-AAB8-01A-12D-A40W-08	0.607	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	0	0	1		2	2	2	0		0	0	28		28	28	1	1.810000	-3.314468	1	0.270000	NM_014274			4	4		121	118	0		1	0		0	0	28	0		0.885799	1.845472e-03	0	0	0	2	0	4	121
SDK1	221935	broad.mit.edu	37	7	4259748	4259748	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr7:4259748C>G	ENST00000404826.2	+	39	5686	c.5547C>G	c.(5545-5547)agC>agG	p.S1849R	SDK1_ENST00000389531.3_Missense_Mutation_p.S1829R	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1849	Fibronectin type-III 12. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CAGGGGTGAGCAAGGTGGTGA	0.572																																						ENST00000404826.2	1.000000	1.900000e-01	1.000000	2.600000e-01	0.360000	0.465774	0.360000	0.330000																										0				153						c.(5545-5547)agC>agG		sidekick cell adhesion molecule 1							73.0	74.0	74.0					7																	4259748		2203	4300	6503	SO:0001583	missense	221935	1	121412	29				g.chr7:4259748C>G	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.5547C>G	chr7.hg19:g.4259748C>G	ENSP00000385899:p.Ser1849Arg	1					SDK1_ENST00000389531.3_Missense_Mutation_p.S1829R	p.S1849R	NM_152744.3	NP_689957.3	2	2	4	2.188676	Q7Z5N4	SDK1_HUMAN		39	5686	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	1	1	hg19	c.5547C>G	CCDS34590.1	0	.	.	.	.	.	.	.	.	.	.	C	16.38	3.108140	0.56291	.	.	ENSG00000146555	ENST00000404826;ENST00000446104;ENST00000389531	T;T	0.58358	0.34;0.34	5.28	5.28	0.74379	5.28	5.28	0.74379	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.74253	0.3692	M	0.89904	3.07	0.44352	D	0.997247	D;P;D	0.58620	0.983;0.604;0.962	D;P;D	0.66602	0.945;0.517;0.933	T	0.78981	-0.1989	10	0.87932	D	0	.	10.8802	0.46933	0.0:0.8536:0.0:0.1464	.	1829;336;1849	F8W6X9;F2Z3E9;Q7Z5N4	.;.;SDK1_HUMAN	R	1849;97;1829	ENSP00000385899:S1849R;ENSP00000374182:S1829R	ENSP00000374182:S1829R	S	+	3	2	2	SDK1	4226274	4226274	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	1.082000	0.30803	2.623000	0.88846	0.650000	0.86243	AGC	0.316159		TCGA-2J-AAB8-01A-12D-A40W-08	0.572	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	0	0	1		2	2	2	0		0	0	60		60	59	1	1.810000	-14.083400	1	0.270000	NM_152744			13	12		300	297	0		1	0		0	0	60	0		0.999522	6.116147e-03	0	0	0	3	0	13	300
KRBA1	84626	broad.mit.edu	37	7	149431136	149431136	+	Nonstop_Mutation	SNP	A	A	G			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr7:149431136A>G	ENST00000485033.2	+	15	2910	c.2910A>G	c.(2908-2910)tgA>tgG	p.*970W	KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000255992.10_Nonstop_Mutation_p.*1030W|KRBA1_ENST00000319551.8_Nonstop_Mutation_p.*970W			A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	0	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGGCGCATTGATGGCATTCCT	0.662																																						ENST00000485033.2	0.880000	1.800000e-01	0.670000	2.900000e-01	0.450000	0.488501	0.450000	0.410000																										0				27						c.(2908-2910)tgA>tgG		KRAB-A domain containing 1							14.0	16.0	16.0					7																	149431136		2036	4176	6212	SO:0001578	stop_lost	84626	0	0					g.chr7:149431136A>G	AB058765	CCDS75674.1	7q36	2014-02-12	2006-08-15		ENSG00000133619	ENSG00000133619		"""-"""	22228	protein-coding gene	gene with protein product			"""KRAB A domain containing 1"""				Standard	NM_001290187		Approved	KIAA1862	uc003wfz.3	A5PL33	OTTHUMG00000157886	ENST00000485033.2:c.2910A>G	chr7.hg19:g.149431136A>G	ENSP00000420112:p.*970Trpext*115	0					KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000255992.10_Nonstop_Mutation_p.*1030W|KRBA1_ENST00000319551.8_Nonstop_Mutation_p.*970W	p.*970W			0	1	1	1.978737	A5PL33	KRBA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)	15	2910	+	Melanoma(164;0.165)|Ovarian(565;0.177)		A7E2F5|E7ENE9|Q8N4X0|Q96JG5	Nonstop_Mutation	SNP	ENST00000485033.2	0	1	hg19	c.2910A>G		0	.	.	.	.	.	.	.	.	.	.	A	1.730	-0.494361	0.04322	.	.	ENSG00000133619	ENST00000255992;ENST00000319551;ENST00000485033	.	.	.	4.48	-4.96	0.03038	4.48	-4.96	0.03038	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.8325	0.52303	0.4242:0.0:0.5758:0.0	.	.	.	.	W	1030;970;970	.	.	X	+	3	0	0	KRBA1	149062069	149062069	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.962000	0.03841	-0.871000	0.04042	0.533000	0.62120	TGA	0.233797		TCGA-2J-AAB8-01A-12D-A40W-08	0.662	KRBA1-004	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000349841.3	0	0	1		11	2	2	1		1	1	24		24	24	1	1.810000	-9.690517	1	0.270000	NM_032534			5	5		76	75	0		0			1	0	24	0		0.084917	0	0	0	0	0	0	5	76
ZFPM2	23414	broad.mit.edu	37	8	106431448	106431448	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr8:106431448C>G	ENST00000407775.2	+	2	367	c.117C>G	c.(115-117)gaC>gaG	p.D39E	ZFPM2_ENST00000520492.1_5'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	39					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CCAAAGGAGACTTTCCATTGG	0.423																																						ENST00000407775.2	1.000000	6.600000e-01	1.000000	7.700000e-01	0.900000	0.892792	0.900000	1.000000																										0				99						c.(115-117)gaC>gaG		zinc finger protein, FOG family member 2							101.0	98.0	99.0					8																	106431448		1851	4102	5953	SO:0001583	missense	23414	0	0					g.chr8:106431448C>G	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.117C>G	chr8.hg19:g.106431448C>G	ENSP00000384179:p.Asp39Glu	0					ZFPM2_ENST00000520492.1_5'UTR	p.D39E	NM_012082.3	NP_036214.2	0	1	1	1.971349	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)	2	367	+			Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	ENST00000407775.2	1	1	hg19	c.117C>G	CCDS47908.1	1	.	.	.	.	.	.	.	.	.	.	C	13.85	2.361570	0.41801	.	.	ENSG00000169946	ENST00000407775	T	0.19394	2.15	5.37	5.37	0.77165	5.37	5.37	0.77165	.	0.088240	0.42964	D	0.000630	T	0.10809	0.0264	N	0.05124	-0.11	0.80722	D	1	B	0.12630	0.006	B	0.10450	0.005	T	0.20472	-1.0274	10	0.25106	T	0.35	.	12.4488	0.55666	0.0:0.9232:0.0:0.0768	.	39	Q8WW38	FOG2_HUMAN	E	39	ENSP00000384179:D39E	ENSP00000384179:D39E	D	+	3	2	2	ZFPM2	106500624	106500624	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.989000	0.49393	2.528000	0.85240	0.591000	0.81541	GAC	0.229429		TCGA-2J-AAB8-01A-12D-A40W-08	0.423	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1	1	0	0		2	2	2	0		0	0	49		49	48	1	1.810000	-20.000000	1	0.270000				42	42		283	282	1		1	0		0	0	49	0		1.000000	2.319980e-01	0	0	0	7	0	42	283
CSMD3	114788	broad.mit.edu	37	8	113326150	113326150	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr8:113326150G>A	ENST00000297405.5	-	49	7925	c.7681C>T	c.(7681-7683)Cgg>Tgg	p.R2561W	CSMD3_ENST00000343508.3_Missense_Mutation_p.R2521W|CSMD3_ENST00000455883.2_Missense_Mutation_p.R2457W|CSMD3_ENST00000352409.3_Missense_Mutation_p.R2491W	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2561	CUB 14. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TATCTTATCCGGAAGCCTTTT	0.358										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5	1.000000	7.000000e-01	1.000000	8.200000e-01	0.950000	0.925342	0.950000	1.000000																										0				646						c.(7681-7683)Cgg>Tgg		CUB and Sushi multiple domains 3							111.0	115.0	114.0					8																	113326150		2203	4300	6503	SO:0001583	missense	114788	4	121408	39				g.chr8:113326150G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7681C>T	chr8.hg19:g.113326150G>A	ENSP00000297405:p.Arg2561Trp	0	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Missense_Mutation_p.R2491W|CSMD3_ENST00000455883.2_Missense_Mutation_p.R2457W|CSMD3_ENST00000343508.3_Missense_Mutation_p.R2521W	p.R2561W	NM_198123.1	NP_937756.1	0	1	1	1.971349	Q7Z407	CSMD3_HUMAN		49	7925	-			Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	1	1	hg19	c.7681C>T	CCDS6315.1	1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.222747	0.58668	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15	5.63	2.35	0.29111	5.63	2.35	0.29111	CUB (5);	0.278292	0.30118	N	0.010380	T	0.38931	0.1059	L	0.51422	1.61	0.41494	D	0.988245	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.79108	0.944;0.967;0.992	T	0.17745	-1.0359	10	0.45353	T	0.12	.	15.2984	0.73928	0.0:0.0:0.5384:0.4615	.	2457;2561;2521	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	W	2521;2561;1831;2457;2491	ENSP00000345799:R2521W;ENSP00000297405:R2561W;ENSP00000341558:R1831W;ENSP00000412263:R2457W;ENSP00000343124:R2491W	ENSP00000297405:R2561W	R	-	1	2	2	CSMD3	113395326	113395326	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	0.785000	0.26830	0.624000	0.30286	0.579000	0.79373	CGG	0.229429		TCGA-2J-AAB8-01A-12D-A40W-08	0.358	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	1	0	1		2	2	2	0		0	0	54		54	54	1	1.810000	-2.921957	1	0.270000	NM_052900			41	39		259	257	1		1			0	0	54	0		1.000000	0	0	0	0	0	0	41	259
MFHAS1	9258	broad.mit.edu	37	8	8748773	8748773	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr8:8748773G>A	ENST00000276282.6	-	1	2382	c.1796C>T	c.(1795-1797)tCg>tTg	p.S599L		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	599	Roc. {ECO:0000255|PROSITE- ProRule:PRU00758}.									endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		GTTCTTGTCCGAAACGCCATA	0.642																																					Melanoma(103;1201 2045 17515 28966)	ENST00000276282.6	0.270000	4.000000e-02	0.200000	8.000000e-02	0.130000	0.145288	0.130000	0.120000																										0				21						c.(1795-1797)tCg>tTg		malignant fibrous histiocytoma amplified sequence 1							63.0	56.0	58.0					8																	8748773		2203	4300	6503	SO:0001583	missense	9258	0	0					g.chr8:8748773G>A	AB016816	CCDS34844.1	8p23.1	2014-03-07			ENSG00000147324	ENSG00000147324			16982	protein-coding gene	gene with protein product	"""leucine rich repeat containing 65"", ""malignant fibrous histiocytoma-amplified sequences with leucine-rich tandem repeats 1"""	605352				9973190	Standard	NM_004225		Approved	MASL1, LRRC65	uc003wsj.1	Q9Y4C4	OTTHUMG00000163676	ENST00000276282.6:c.1796C>T	chr8.hg19:g.8748773G>A	ENSP00000276282:p.Ser599Leu	1						p.S599L	NM_004225.2	NP_004216.2	0	1	1	1.868917	Q9Y4C4	MFHA1_HUMAN		1	2382	-		Hepatocellular(245;0.217)	Q96CI0	Missense_Mutation	SNP	ENST00000276282.6	0	1	hg19	c.1796C>T	CCDS34844.1	0	.	.	.	.	.	.	.	.	.	.	G	16.90	3.249044	0.59103	.	.	ENSG00000147324	ENST00000276282	T	0.37235	1.21	5.28	5.28	0.74379	5.28	5.28	0.74379	ROC GTPase (1);	0.172306	0.38837	N	0.001551	T	0.41166	0.1147	L	0.61218	1.895	0.50039	D	0.999841	D	0.62365	0.991	P	0.45558	0.485	T	0.42120	-0.9470	10	0.72032	D	0.01	.	13.7779	0.63066	0.0:0.1534:0.8466:0.0	.	599	Q9Y4C4	MFHA1_HUMAN	L	599	ENSP00000276282:S599L	ENSP00000276282:S599L	S	-	2	0	0	MFHAS1	8786183	8786183	1.000000	0.71417	0.386000	0.26170	0.938000	0.57974	4.486000	0.60286	2.736000	0.93811	0.655000	0.94253	TCG	0.158695		TCGA-2J-AAB8-01A-12D-A40W-08	0.642	MFHAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374724.2	0	0	1		2	2	2	0		0	0	45		45	44	1	1.810000	-3.254147	1	0.270000	NM_004225			5	5		253	247	0		1	0		0	0	45	0		0.934211	3.564281e-03	0	0	0	4	0	5	253
DDHD2	23259	broad.mit.edu	37	8	38107250	38107250	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr8:38107250C>G	ENST00000397166.2	+	11	1798	c.1273C>G	c.(1273-1275)Cag>Gag	p.Q425E	DDHD2_ENST00000529845.1_5'Flank|DDHD2_ENST00000520272.2_Missense_Mutation_p.Q425E|DDHD2_ENST00000528888.1_3'UTR|DDHD2_ENST00000517385.1_Missense_Mutation_p.Q44E	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	425	SAM.				cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.Q425K(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			CCGAGATCTTCAGGAAATAGG	0.368																																						ENST00000397166.2	0.900000	3.400000e-01	0.760000	4.500000e-01	0.590000	0.611731	0.590000	0.590000																										1	Substitution - Missense(1)	p.Q425K(1)	lung(1)	28						c.(1273-1275)Cag>Gag		DDHD domain containing 2							69.0	67.0	68.0					8																	38107250		2203	4300	6503	SO:0001583	missense	23259	0	0					g.chr8:38107250C>G	AK056525	CCDS34883.1	8p11.23	2014-03-03	2004-04-05	2004-04-07				"""Sterile alpha motif (SAM) domain containing"""	29106	protein-coding gene	gene with protein product		615003	"""SAM, WWE and DDHD domain containing 1"""	SAMWD1		9872452, 11788596, 19632984, 20932832	Standard	NM_015214		Approved	KIAA0725, SPG54	uc003xlc.3	O94830		ENST00000397166.2:c.1273C>G	chr8.hg19:g.38107250C>G	ENSP00000380352:p.Gln425Glu	1					DDHD2_ENST00000528888.1_3'UTR|DDHD2_ENST00000517385.1_Missense_Mutation_p.Q44E|DDHD2_ENST00000529845.1_5'Flank|DDHD2_ENST00000520272.2_Missense_Mutation_p.Q425E	p.Q425E	NM_015214.2	NP_056029.2	0	1	1	1.842630	O94830	DDHD2_HUMAN	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)	11	1798	+	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	B3KWV2|B3KXB5|Q9H8X7	Missense_Mutation	SNP	ENST00000397166.2	0	1	hg19	c.1273C>G	CCDS34883.1	0	.	.	.	.	.	.	.	.	.	.	C	14.16	2.453824	0.43531	.	.	ENSG00000085788	ENST00000397166;ENST00000520272;ENST00000440212;ENST00000517385	T;T;T	0.44881	0.91;0.91;0.91	5.5	5.5	0.81552	5.5	5.5	0.81552	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.113509	0.64402	D	0.000015	T	0.28333	0.0700	L	0.39147	1.195	0.80722	D	1	B;B	0.10296	0.003;0.001	B;B	0.12837	0.008;0.006	T	0.10132	-1.0643	10	0.02654	T	1	-18.2805	9.4121	0.38498	0.2626:0.6029:0.1345:0.0	.	237;425	B4DSR3;O94830	.;DDHD2_HUMAN	E	425;425;237;44	ENSP00000380352:Q425E;ENSP00000429932:Q425E;ENSP00000429017:Q44E	ENSP00000380352:Q425E	Q	+	1	0	0	DDHD2	38226407	38226407	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.445000	0.52921	2.744000	0.94065	0.655000	0.94253	CAG	0.157384		TCGA-2J-AAB8-01A-12D-A40W-08	0.368	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377251.2	1	0	1		14	4	2	1		1	1	34		34	33	1	1.810000	-18.924570	1	0.270000	XM_291291			13	13		125	125	0		0	1		1	0	34	0		0.492065	1.646427e-01	0	4	0	17	0	13	125
ZFHX4	79776	broad.mit.edu	37	8	77763870	77763870	+	Missense_Mutation	SNP	A	A	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr8:77763870A>T	ENST00000521891.2	+	10	5161	c.4713A>T	c.(4711-4713)aaA>aaT	p.K1571N	ZFHX4_ENST00000518282.1_Missense_Mutation_p.K1545N|ZFHX4_ENST00000455469.2_Missense_Mutation_p.K1526N|ZFHX4_ENST00000050961.6_Missense_Mutation_p.K1526N	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1526					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGCTGAAAAAAGTTTTGCAGG	0.413										HNSCC(33;0.089)																												ENST00000521891.2	0.820000	2.600000e-01	0.660000	3.600000e-01	0.490000	0.519694	0.490000	0.480000																										0				432						c.(4711-4713)aaA>aaT		zinc finger homeobox 4							42.0	40.0	41.0					8																	77763870		1913	4136	6049	SO:0001583	missense	79776	0	0					g.chr8:77763870A>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.4713A>T	chr8.hg19:g.77763870A>T	ENSP00000430497:p.Lys1571Asn	0	HNSCC(33;0.089)				ZFHX4_ENST00000518282.1_Missense_Mutation_p.K1545N|ZFHX4_ENST00000050961.6_Missense_Mutation_p.K1526N|ZFHX4_ENST00000455469.2_Missense_Mutation_p.K1526N	p.K1571N	NM_024721.4	NP_078997.4	0	1	1	1.971349	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)	10	5161	+			G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	0	1	hg19	c.4713A>T	CCDS47878.2	0	.	.	.	.	.	.	.	.	.	.	A	11.15	1.555228	0.27739	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.56444	0.46;0.51;0.47;0.47	4.6	0.728	0.18260	4.6	0.728	0.18260	Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	0.000000	0.46442	U	0.000298	T	0.63022	0.2476	L	0.57536	1.79	0.58432	D	0.999996	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.83275	0.991;0.996;0.996	T	0.60782	-0.7195	10	0.56958	D	0.05	.	8.7254	0.34467	0.4063:0.0:0.5937:0.0	.	1526;1526;1571	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	N	1571;1571;1526;1526;1545	ENSP00000430497:K1571N;ENSP00000399605:K1526N;ENSP00000050961:K1526N;ENSP00000430848:K1545N	ENSP00000050961:K1526N	K	+	3	2	2	ZFHX4	77926425	77926425	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	0.862000	0.27899	0.260000	0.21731	-0.375000	0.07067	AAA	0.229429		TCGA-2J-AAB8-01A-12D-A40W-08	0.413	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	1	0	1		2	2	2	0		0	0	21		21	21	1	1.810000	-14.746630	1	0.270000	NM_024721			10	10		133	132	0		1	0		0	0	21	0		0.997108	0	0	0	0	1	0	10	133
GSDMD	79792	broad.mit.edu	37	8	144645015	144645015	+	Missense_Mutation	SNP	A	A	T			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr8:144645015A>T	ENST00000526406.1	+	14	2279	c.1396A>T	c.(1396-1398)Atg>Ttg	p.M466L	GSDMD_ENST00000533063.1_Missense_Mutation_p.M514L|GSDMD_ENST00000262580.4_Missense_Mutation_p.M466L	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	466				SGMLVPELAIPVVYLLGALTMLSETQHKLLAEALESQTLLG PLELVGSLLEQSAPWQERSTMSLPPGLLGNSWGEGAPAWVL LDECGLELGEDTPHVCWEPQAQGRMCALYASLALLSGLSQE P -> PECWCRNSLSLLSTCWG (in Ref. 1; AAG22861). {ECO:0000305}.	cellular response to extracellular stimulus (GO:0031668)					breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						CCAGGGCCGCATGTGTGCACT	0.687																																						ENST00000526406.1	1.000000	4.100000e-01	0.970000	5.600000e-01	0.750000	0.757447	0.750000	1.000000																										0				12						c.(1396-1398)Atg>Ttg		gasdermin D							35.0	31.0	32.0					8																	144645015		2195	4296	6491	SO:0001583	missense	79792	0	0					g.chr8:144645015A>T	AK096216	CCDS34956.1	8q24.3	2008-07-31	2008-07-31	2008-07-31		ENSG00000104518			25697	protein-coding gene	gene with protein product			"""gasdermin domain containing 1"""	GSDMDC1		15289881, 17350798	Standard	NM_024736		Approved	FLJ12150, DF5L	uc003yyg.3	P57764		ENST00000526406.1:c.1396A>T	chr8.hg19:g.144645015A>T	ENSP00000433209:p.Met466Leu	0					GSDMD_ENST00000533063.1_Missense_Mutation_p.M514L|GSDMD_ENST00000262580.4_Missense_Mutation_p.M466L	p.M466L	NM_001166237.1	NP_001159709.1	0	1	1	1.971349	P57764	GSDMD_HUMAN		14	2279	+			D3DWJ9|Q96Q98	Missense_Mutation	SNP	ENST00000526406.1	1	1	hg19	c.1396A>T	CCDS34956.1	0	.	.	.	.	.	.	.	.	.	.	A	0.007	-1.958655	0.00465	.	.	ENSG00000104518	ENST00000526406;ENST00000533063;ENST00000262580	T;T;T	0.13657	2.65;2.57;2.65	4.9	-3.65	0.04502	4.9	-3.65	0.04502	.	0.971022	0.08500	N	0.936553	T	0.02380	0.0073	N	0.00436	-1.5	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.001;0.001;0.002	T	0.44467	-0.9326	10	0.02654	T	1	-4.7448	6.4597	0.21950	0.3686:0.162:0.4693:0.0	.	466;466;514	A8K702;P57764;G3V1A6	.;GSDMD_HUMAN;.	L	466;514;466	ENSP00000433209:M466L;ENSP00000433958:M514L;ENSP00000262580:M466L	ENSP00000262580:M466L	M	+	1	0	0	GSDMD	144716158	144716158	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.066000	0.14489	-0.378000	0.07918	-0.288000	0.09946	ATG	0.229429		TCGA-2J-AAB8-01A-12D-A40W-08	0.687	GSDMD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382046.3	1	0	1		2	2	2	0		0	0	26		26	24	1	1.810000	-17.950580	1	0.270000	NM_024736			11	11		92	92	1		1	1		0	0	26	0		0.998641	9.989103e-01	0	30	0	77	0	11	92
SPTLC1	10558	broad.mit.edu	37	9	94794825	94794825	+	Silent	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr9:94794825G>A	ENST00000262554.2	-	15	1349	c.1344C>T	c.(1342-1344)gtC>gtT	p.V448V		NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	448					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)|SPOTS complex (GO:0035339)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)	GTTCCACCGTGACCACAACCC	0.567																																						ENST00000262554.2	0.990000	5.400000e-01	0.880000	6.400000e-01	0.750000	0.765779	0.750000	0.750000																										0				14						c.(1342-1344)gtC>gtT		serine palmitoyltransferase, long chain base subunit 1	L-Serine(DB00133)						158.0	129.0	139.0					9																	94794825		2203	4300	6503	SO:0001819	synonymous_variant	10558	0	0					g.chr9:94794825G>A	Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	"""hereditary sensory neuropathy, type 1"""	HSN1		9363775	Standard	NM_006415		Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.1344C>T	chr9.hg19:g.94794825G>A		0						p.V448V	NM_006415.2	NP_006406.1	0	0	0	2.038432	O15269	SPTC1_HUMAN		15	1349	-			A8K681|Q5VWB4|Q96IX6	Silent	SNP	ENST00000262554.2	1	1	hg19	c.1344C>T	CCDS6692.1	0																																																																																								0.266037		TCGA-2J-AAB8-01A-12D-A40W-08	0.567	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055553.1	1	0	1		2	2	2	0		0	0	64		64	61	1	1.810000	-20.000000	1	0.270000	NM_006415			37	37		323	319	1		1	1		0	0	64	0		1.000000	9.998319e-01	0	47	0	69	0	37	323
SEC16A	9919	broad.mit.edu	37	9	139360714	139360714	+	Splice_Site	SNP	A	A	G			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chr9:139360714A>G	ENST00000371706.3	-	5	3628		c.e5+1		SEC16A_ENST00000313050.7_Splice_Site|SEC16A_ENST00000290037.6_Splice_Site|SEC16A_ENST00000431893.2_Splice_Site			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)						COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GCCGCCGCGTACCTGGTGCGA	0.622																																						ENST00000371706.3	1.000000	3.200000e-01	1.000000	5.300000e-01	0.810000	0.785430	0.810000	1.000000																										0				51						c.e5+1		SEC16 homolog A (S. cerevisiae)							7.0	10.0	9.0					9																	139360714		2154	4237	6391	SO:0001630	splice_region_variant	9919	0	0					g.chr9:139360714A>G	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.3594+1T>C	chr9.hg19:g.139360714A>G		0					SEC16A_ENST00000431893.2_Splice_Site|SEC16A_ENST00000290037.6_Splice_Site|SEC16A_ENST00000313050.7_Splice_Site				0	0	0	2.033948	O15027	SC16A_HUMAN		5	3628	-		Myeloproliferative disorder(178;0.0511)	A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Splice_Site	SNP	ENST00000371706.3	0	1	hg19			0	.	.	.	.	.	.	.	.	.	.	A	12.70	2.016902	0.35606	.	.	ENSG00000148396	ENST00000313050;ENST00000453963;ENST00000371706;ENST00000433860;ENST00000290037;ENST00000431893;ENST00000404925;ENST00000398348	.	.	.	5.68	5.68	0.88126	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0933	0.72215	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	.	SEC16A	138480535	138480535	1.000000	0.71417	0.950000	0.38849	0.057000	0.15508	6.084000	0.71335	2.168000	0.68352	0.528000	0.53228	.	0.262030		TCGA-2J-AAB8-01A-12D-A40W-08	0.622	SEC16A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000055077.1	0	0	1		2	2	2	0		0	0	13		13	13	1	1.810000	-13.066360	1	0.270000	XM_088459	Intron		5	5		41	40	1		1	1		0	0	13	0		0.933938	1.714286e-02	0	2	0	0	0	5	41
CSF2RA	1438	broad.mit.edu	37	X	1422850	1422850	+	Silent	SNP	T	T	C			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chrX:1422850T>C	ENST00000381524.3	+	11	1167	c.981T>C	c.(979-981)atT>atC	p.I327I	CSF2RA_ENST00000417535.2_Silent_p.I361I|CSF2RA_ENST00000361536.3_Intron|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000381509.3_Silent_p.I327I|CSF2RA_ENST00000381529.3_Silent_p.I327I|CSF2RA_ENST00000501036.2_Silent_p.I194I|CSF2RA_ENST00000381500.1_Intron|CSF2RA_ENST00000355432.3_Intron|CSF2RA_ENST00000432318.2_Silent_p.I327I|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000355805.2_Intron			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	327					response to ethanol (GO:0045471)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		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)			Sargramostim(DB00020)	CTGTGTACATTTATGTGCTCC	0.498																																					Esophageal Squamous(131;723 1707 25334 40494 41806)	ENST00000381524.3	0.040000	0	0.030000	0	0.010000	0.023168	0.010000	0.020000																										0				45						c.(979-981)atT>atC		colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	Sargramostim(DB00020)						511.0	447.0	469.0					X																	1422850		2203	4296	6499	SO:0001819	synonymous_variant	1438	0	0					g.chrX:1422850T>C	M64445	CCDS35190.1, CCDS35191.1, CCDS35192.1, CCDS35193.1, CCDS55359.1, CCDS55360.1, CCDS55361.1	Xp22.32 and Yp11.3	2014-09-17			ENSG00000198223	ENSG00000198223		"""CD molecules"", ""Pseudoautosomal regions / PAR1"""	2435	protein-coding gene	gene with protein product		306250, 425000		CSF2R		1702217	Standard	NM_006140		Approved	CD116	uc010ncv.2	P15509	OTTHUMG00000012533	ENST00000381524.3:c.981T>C	chrX.hg19:g.1422850T>C							CSF2RA_ENST00000381500.1_Intron|CSF2RA_ENST00000381529.3_Silent_p.I327I|CSF2RA_ENST00000417535.2_Silent_p.I361I|CSF2RA_ENST00000361536.3_Intron|CSF2RA_ENST00000355432.3_Intron|CSF2RA_ENST00000501036.2_Silent_p.I194I|CSF2RA_ENST00000432318.2_Silent_p.I327I|CSF2RA_ENST00000381509.3_Silent_p.I327I|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000498153.1_3'UTR	p.I327I			0	1	1		P15509	CSF2R_HUMAN		11	1167	+		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)	A7J003|A8KAM1|B4DW68|J3JS76|J3JS77|O00207|Q14429|Q14430|Q14431|Q16564	Silent	SNP	ENST00000381524.3	0	1	hg19	c.981T>C	CCDS35191.1	0	.	.	.	.	.	.	.	.	.	.	.	7.124	0.578594	0.13686	.	.	ENSG00000198223	ENST00000381507	.	.	.	0.806	-0.189	0.13260	0.806	-0.189	0.13260	.	.	.	.	.	T	0.55081	0.1898	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53187	-0.8474	5	0.62326	D	0.03	.	3.1091	0.06352	0.0:0.6445:0.0:0.3555	.	.	.	.	S	283	.	ENSP00000370918:F283S	F	+	2	0	0	CSF2RA	1382850	1382850	0.000000	0.05858	0.005000	0.12908	0.103000	0.19146	-0.764000	0.04735	-0.087000	0.12528	0.084000	0.15446	TTT	0.270000		TCGA-2J-AAB8-01A-12D-A40W-08	0.498	CSF2RA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000035013.2	0	0	1		22	2	2	1		1	2	284		284	278	1	1.810000	-20.000000	1	0.270000				7	7		1268	1242	0		0	0		1	0	284	0		0.003256	6.470946e-04	0	0	0	6	0	7	1268
PHEX	5251	broad.mit.edu	37	X	22117217	22117217	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB8-01A-12D-A40W-08	TCGA-2J-AAB8-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f17f4584-79ab-476e-860d-9b99d4d45141	617be344-0a3d-4f77-bc31-6950e06229b6	g.chrX:22117217G>A	ENST00000379374.4	+	9	1592	c.1027G>A	c.(1027-1029)Gtc>Atc	p.V343I	PHEX_ENST00000475778.1_3'UTR|PHEX_ENST00000537599.1_Missense_Mutation_p.V343I|PHEX_ENST00000418858.3_Missense_Mutation_p.V46I|PHEX_ENST00000535894.1_Missense_Mutation_p.V246I	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	343					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						GGTGGTCCGCGTCCCGCAGTA	0.443																																						ENST00000379374.4	0.600000	3.400000e-01	0.540000	4.000000e-01	0.460000	0.474361	0.460000	0.470000																										0				42						c.(1027-1029)Gtc>Atc		phosphate regulating endopeptidase homolog, X-linked							115.0	105.0	109.0					X																	22117217		2203	4300	6503	SO:0001583	missense	5251	2	121412	41				g.chrX:22117217G>A	U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"""phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"""	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.1027G>A	chrX.hg19:g.22117217G>A	ENSP00000368682:p.Val343Ile						PHEX_ENST00000418858.3_Missense_Mutation_p.V46I|PHEX_ENST00000537599.1_Missense_Mutation_p.V343I|PHEX_ENST00000475778.1_3'UTR|PHEX_ENST00000535894.1_Missense_Mutation_p.V246I	p.V343I	NM_000444.4	NP_000435.3	0	1	1		P78562	PHEX_HUMAN		9	1592	+			O00678|Q13646|Q2M325|Q93032|Q99827	Missense_Mutation	SNP	ENST00000379374.4	1	1	hg19	c.1027G>A	CCDS14204.1	0	.	.	.	.	.	.	.	.	.	.	G	27.1	4.801058	0.90538	.	.	ENSG00000102174	ENST00000379374;ENST00000537599;ENST00000535894;ENST00000418858	T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78	5.46	5.46	0.80206	5.46	5.46	0.80206	Peptidase M13 (1);	0.109879	0.64402	D	0.000008	T	0.71592	0.3358	L	0.39147	1.195	0.45995	D	0.998802	D;D	0.56746	0.977;0.964	B;P	0.44860	0.332;0.462	T	0.75836	-0.3177	10	0.62326	D	0.03	.	18.3838	0.90459	0.0:0.0:1.0:0.0	.	343;343	F5GXU4;P78562	.;PHEX_HUMAN	I	343;343;246;46	ENSP00000368682:V343I;ENSP00000440362:V343I;ENSP00000439418:V246I;ENSP00000443531:V46I	ENSP00000368682:V343I	V	+	1	0	0	PHEX	22027138	22027138	1.000000	0.71417	0.843000	0.33291	0.944000	0.59088	7.562000	0.82300	2.282000	0.76494	0.529000	0.55759	GTC	0.270000		TCGA-2J-AAB8-01A-12D-A40W-08	0.443	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	1	0	1		2	2	2	0		0	0	48		48	48	1	1.810000	-18.129090	1	0.270000	NM_000444			42	41		289	285	1		1			0	0	48	0		1.000000	0	0	0	0	0	0	42	289
