#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SPEN	23013	broad.mit.edu	37	1	16257698	16257698	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr1:16257698G>C	ENST00000375759.3	+	11	5167	c.4963G>C	c.(4963-4965)Gag>Cag	p.E1655Q		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1655					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ATCAGCACTAGAGAAGACCAC	0.493																																						uc001axk.1		NA																	0				ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(4963-4965)GAG>CAG		spen homolog, transcriptional regulator							141.0	152.0	148.0					1																	16257698		2203	4300	6503	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16257698G>C		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.4963G>C	1.37:g.16257698G>C	ENSP00000364912:p.Glu1655Gln					SPEN_uc010obp.1_Missense_Mutation_p.E1614Q	p.E1655Q	NM_015001	NP_055816	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	5167	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	1655					Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.4963G>C	CCDS164.1	.	.	.	.	.	.	.	.	.	.	G	10.75	1.437766	0.25900	.	.	ENSG00000065526	ENST00000375759	T	0.09630	2.96	5.28	5.28	0.74379	.	.	.	.	.	T	0.09774	0.0240	L	0.27053	0.805	0.42271	D	0.992055	P	0.38395	0.629	B	0.34873	0.191	T	0.21075	-1.0256	9	0.33940	T	0.23	-8.9679	18.9092	0.92475	0.0:0.0:1.0:0.0	.	1655	Q96T58	MINT_HUMAN	Q	1655	ENSP00000364912:E1655Q	ENSP00000364912:E1655Q	E	+	1	0	SPEN	16130285	1.000000	0.71417	0.809000	0.32408	0.083000	0.17756	6.737000	0.74816	2.445000	0.82738	0.467000	0.42956	GAG		0.493	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		9	146	0	0	0	0	9	146				
BEND7	222389	broad.mit.edu	37	10	13481367	13481367	+	Silent	SNP	G	G	C			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr10:13481367G>C	ENST00000396900.2	-	9	1364	c.1365C>G	c.(1363-1365)ctC>ctG	p.L455L	BEND7_ENST00000341083.3_Silent_p.L404L|BEND7_ENST00000486542.1_5'UTR			Q8N7W2	BEND7_HUMAN	BEN domain containing 7	455						extracellular vesicular exosome (GO:0070062)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						TCAGGAGCACGAGATGCTGCT	0.527																																						uc001imm.2		NA																	0				ovary(1)|breast(1)	2						c.(1210-1212)CTC>CTG		BEN domain containing 7 isoform 1							201.0	179.0	186.0					10																	13481367		2203	4300	6503	SO:0001819	synonymous_variant	222389						protein binding	g.chr10:13481367G>C	BC031618	CCDS7099.1, CCDS41490.1	10p14	2012-11-22	2008-10-03	2008-10-03	ENSG00000165626	ENSG00000165626		"""BEN domain containing"""	23514	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 30"""	C10orf30			Standard	NM_152751		Approved	FLJ40283	uc001imm.2	Q8N7W2	OTTHUMG00000017699	ENST00000396900.2:c.1365C>G	10.37:g.13481367G>C						BEND7_uc001iml.2_RNA	p.L404L	NM_152751	NP_689964	Q8N7W2	BEND7_HUMAN			9	1509	-			455					Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	Silent	SNP	ENST00000396900.2	37	c.1212C>G																																																																																					0.527	BEND7-202	KNOWN	basic	protein_coding	protein_coding		NM_152751		4	38	0	0	0	0	4	38				
OR5D14	219436	broad.mit.edu	37	11	55563470	55563470	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr11:55563470G>T	ENST00000335605.1	+	1	439	c.439G>T	c.(439-441)Gtg>Ttg	p.V147L		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TGCCCTGCTGGTGGCTGGGTC	0.507																																						uc010rim.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(439-441)GTG>TTG		olfactory receptor, family 5, subfamily D,							114.0	108.0	110.0					11																	55563470		2200	4296	6496	SO:0001583	missense	219436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55563470G>T	AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.439G>T	11.37:g.55563470G>T	ENSP00000334456:p.Val147Leu						p.V147L	NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN			1	439	+		all_epithelial(135;0.196)	147			Helical; Name=4; (Potential).		Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	ENST00000335605.1	37	c.439G>T	CCDS31508.1	.	.	.	.	.	.	.	.	.	.	g	8.593	0.885044	0.17540	.	.	ENSG00000186113	ENST00000335605	T	0.36878	1.23	4.96	4.04	0.47022	GPCR, rhodopsin-like superfamily (1);	0.171941	0.27686	N	0.018266	T	0.40119	0.1104	M	0.72894	2.215	0.09310	N	1	B	0.32507	0.373	B	0.39840	0.311	T	0.39057	-0.9632	10	0.54805	T	0.06	-11.1886	7.5014	0.27520	0.0905:0.1699:0.7396:0.0	.	147	Q8NGL3	OR5DE_HUMAN	L	147	ENSP00000334456:V147L	ENSP00000334456:V147L	V	+	1	0	OR5D14	55320046	0.992000	0.36948	0.381000	0.26106	0.007000	0.05969	2.696000	0.47052	2.303000	0.77524	0.643000	0.83706	GTG		0.507	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		6	65	1	0	3.6e-05	3.88e-05	6	65				
OR5D18	219438	broad.mit.edu	37	11	55587255	55587255	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr11:55587255C>G	ENST00000333976.4	+	1	170	c.150C>G	c.(148-150)atC>atG	p.I50M		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TTGTGATCATCAAAATCAACC	0.453																																						uc010rin.1		NA																	0				skin(2)|ovary(1)	3						c.(148-150)ATC>ATG		olfactory receptor, family 5, subfamily D,							226.0	207.0	214.0					11																	55587255		2200	4296	6496	SO:0001583	missense	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587255C>G	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.150C>G	11.37:g.55587255C>G	ENSP00000335025:p.Ile50Met						p.I50M	NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN			1	150	+		all_epithelial(135;0.208)	50			Cytoplasmic (Potential).		Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	c.150C>G	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	8.975	0.973840	0.18736	.	.	ENSG00000186119	ENST00000333976	T	0.08458	3.09	4.94	0.711	0.18162	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40144	N	0.001161	T	0.19644	0.0472	M	0.93420	3.415	0.09310	N	1	P	0.36683	0.565	P	0.45856	0.495	T	0.17653	-1.0362	10	0.87932	D	0	-44.8259	2.1574	0.03815	0.3621:0.3684:0.1182:0.1512	.	50	Q8NGL1	OR5DI_HUMAN	M	50	ENSP00000335025:I50M	ENSP00000335025:I50M	I	+	3	3	OR5D18	55343831	0.000000	0.05858	0.952000	0.39060	0.258000	0.26162	-4.605000	0.00209	0.222000	0.20900	-1.168000	0.01747	ATC		0.453	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		8	106	0	0	0	0	8	106				
IGHMBP2	3508	broad.mit.edu	37	11	68703725	68703725	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr11:68703725G>A	ENST00000255078.3	+	13	1888	c.1777G>A	c.(1777-1779)Gag>Aag	p.E593K	IGHMBP2_ENST00000541229.1_3'UTR	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	593					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TTTTCTTGCTGAGGACCGGAG	0.532																																						uc001ook.1		NA																	0					0						c.(1777-1779)GAG>AAG		immunoglobulin mu binding protein 2							132.0	126.0	128.0					11																	68703725		2200	4294	6494	SO:0001583	missense	3508				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding	g.chr11:68703725G>A	L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"""Zinc fingers, AN1-type domain containing"""	5542	protein-coding gene	gene with protein product	"""cardiac transcription factor 1"", ""zinc finger, AN1-type domain 7"""	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.1777G>A	11.37:g.68703725G>A	ENSP00000255078:p.Glu593Lys					IGHMBP2_uc001ool.1_Missense_Mutation_p.E217K|IGHMBP2_uc001oom.1_Missense_Mutation_p.E171K	p.E593K	NM_002180	NP_002171	P38935	SMBP2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		13	1879	+			593					A0PJD2|Q00443|Q14177	Missense_Mutation	SNP	ENST00000255078.3	37	c.1777G>A	CCDS8187.1	.	.	.	.	.	.	.	.	.	.	G	35	5.437191	0.96168	.	.	ENSG00000132740	ENST00000255078	D	0.92595	-3.07	4.25	4.25	0.50352	.	0.113928	0.64402	D	0.000017	D	0.95389	0.8503	M	0.74389	2.26	0.80722	D	1	D	0.64830	0.994	D	0.69479	0.964	D	0.95853	0.8876	10	0.72032	D	0.01	-11.1963	15.926	0.79618	0.0:0.0:1.0:0.0	.	593	P38935	SMBP2_HUMAN	K	593	ENSP00000255078:E593K	ENSP00000255078:E593K	E	+	1	0	IGHMBP2	68460301	1.000000	0.71417	0.995000	0.50966	0.988000	0.76386	8.953000	0.93041	2.360000	0.80028	0.561000	0.74099	GAG		0.532	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396862.1	NM_002180		14	99	0	0	0	0	14	99				
GYS2	2998	broad.mit.edu	37	12	21728963	21728963	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr12:21728963C>T	ENST00000261195.2	-	3	586	c.332G>A	c.(331-333)gGa>gAa	p.G111E		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	111					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ATAAGGACTTCCTTCTATCAG	0.433																																					Colon(149;9 1820 3690 10544 50424)	uc001rfb.2		NA																	0				lung(1)|skin(1)	2						c.(331-333)GGA>GAA		glycogen synthase 2							110.0	100.0	104.0					12																	21728963		2203	4300	6503	SO:0001583	missense	2998				glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	g.chr12:21728963C>T		CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.332G>A	12.37:g.21728963C>T	ENSP00000261195:p.Gly111Glu						p.G111E	NM_021957	NP_068776	P54840	GYS2_HUMAN			3	587	-			111					A0AVD8	Missense_Mutation	SNP	ENST00000261195.2	37	c.332G>A	CCDS8690.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.775116	0.90108	.	.	ENSG00000111713	ENST00000261195	T	0.76186	-1.0	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	D	0.89417	0.6709	M	0.91972	3.26	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91224	0.5009	10	0.72032	D	0.01	-28.1157	18.9212	0.92526	0.0:1.0:0.0:0.0	.	111	P54840	GYS2_HUMAN	E	111	ENSP00000261195:G111E	ENSP00000261195:G111E	G	-	2	0	GYS2	21620230	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.265000	0.78442	2.781000	0.95711	0.650000	0.86243	GGA		0.433	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1	NM_021957		4	54	0	0	0	0	4	54				
LARP4	113251	broad.mit.edu	37	12	50869453	50869453	+	Missense_Mutation	SNP	G	G	T	rs374242008		TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr12:50869453G>T	ENST00000398473.2	+	16	2093	c.1981G>T	c.(1981-1983)Gtt>Ttt	p.V661F	LARP4_ENST00000429001.3_Missense_Mutation_p.V667F|LARP4_ENST00000293618.8_Missense_Mutation_p.V590F|LARP4_ENST00000347328.5_Missense_Mutation_p.V590F|LARP4_ENST00000518444.1_Missense_Mutation_p.V660F	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	661					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						TGAGAACTCCGTTGAGAAACC	0.488																																						uc001rwp.1		NA																	0				ovary(1)	1						c.(1981-1983)GTT>TTT		c-Mpl binding protein isoform a							98.0	99.0	99.0					12																	50869453		1859	4101	5960	SO:0001583	missense	113251						nucleotide binding|RNA binding	g.chr12:50869453G>T	AY004310	CCDS41782.1, CCDS44879.1, CCDS44880.1, CCDS44879.2, CCDS53789.1, CCDS53790.1	12q13.12	2005-08-09			ENSG00000161813	ENSG00000161813		"""La ribonucleoprotein domain containing"""	24320	protein-coding gene	gene with protein product						12477932	Standard	NM_052879		Approved	PP13296	uc001rwp.2	Q71RC2	OTTHUMG00000163724	ENST00000398473.2:c.1981G>T	12.37:g.50869453G>T	ENSP00000381490:p.Val661Phe					LARP4_uc001rwo.1_Missense_Mutation_p.V667F|LARP4_uc001rwq.1_Missense_Mutation_p.V590F|LARP4_uc001rwr.1_Missense_Mutation_p.V590F|LARP4_uc001rws.1_Missense_Mutation_p.V660F|LARP4_uc009zlr.1_Missense_Mutation_p.V460F|LARP4_uc001rwt.1_Missense_Mutation_p.V252F	p.V661F	NM_052879	NP_443111	Q71RC2	LARP4_HUMAN			16	2125	+			661					A8K6T1|E9PDG5|G3XAA8|G5E976|Q5CZ97|Q6ZV14|Q96NF9	Missense_Mutation	SNP	ENST00000398473.2	37	c.1981G>T	CCDS41782.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.684472	0.47991	.	.	ENSG00000161813	ENST00000293618;ENST00000429001;ENST00000398473;ENST00000518444;ENST00000520064;ENST00000347328	T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9	5.04	-3.6	0.04570	.	1.818080	0.02085	N	0.052697	T	0.18718	0.0449	N	0.12182	0.205	0.09310	N	1	B;B;B;B;B;B;B	0.33448	0.001;0.002;0.003;0.001;0.001;0.001;0.412	B;B;B;B;B;B;B	0.30251	0.004;0.004;0.005;0.001;0.002;0.002;0.113	T	0.03807	-1.1002	10	0.15066	T	0.55	.	1.4633	0.02400	0.2512:0.0847:0.39:0.2741	.	542;71;660;590;590;661;667	Q71RC2-2;Q8WVX5;Q71RC2-3;G3XAA8;G5E976;Q71RC2;Q71RC2-4	.;.;.;.;.;LARP4_HUMAN;.	F	590;667;661;660;542;590	ENSP00000293618:V590F;ENSP00000415464:V667F;ENSP00000381490:V661F;ENSP00000429077:V660F;ENSP00000340901:V590F	ENSP00000293618:V590F	V	+	1	0	LARP4	49155720	0.000000	0.05858	0.004000	0.12327	0.961000	0.63080	-0.222000	0.09190	-0.831000	0.04256	0.643000	0.83706	GTT		0.488	LARP4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374981.1	NM_052879		8	110	1	0	5.18e-06	5.72e-06	8	110				
IRAK3	11213	broad.mit.edu	37	12	66641854	66641854	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr12:66641854C>G	ENST00000261233.4	+	12	2115	c.1694C>G	c.(1693-1695)tCa>tGa	p.S565*	IRAK3_ENST00000457197.2_Nonsense_Mutation_p.S504*	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		GATCCTTCTTCAGAAGCTCCA	0.423																																						uc001sth.2		NA																	0				lung(3)|ovary(2)|breast(2)|central_nervous_system(1)	8						c.(1693-1695)TCA>TGA		interleukin-1 receptor-associated kinase 3							81.0	89.0	87.0					12																	66641854		2203	4300	6503	SO:0001587	stop_gained	11213				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	g.chr12:66641854C>G	AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.1694C>G	12.37:g.66641854C>G	ENSP00000261233:p.Ser565*					IRAK3_uc010ssy.1_Nonsense_Mutation_p.S504*	p.S565*	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN		GBM - Glioblastoma multiforme(28;0.0203)	12	1796	+			565						Nonsense_Mutation	SNP	ENST00000261233.4	37	c.1694C>G	CCDS8975.1	.	.	.	.	.	.	.	.	.	.	C	37	6.592354	0.97688	.	.	ENSG00000090376	ENST00000261233;ENST00000457197	.	.	.	5.67	1.8	0.24995	.	1.007560	0.07980	N	0.985424	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.0347	5.2397	0.15465	0.0:0.6035:0.1582:0.2382	.	.	.	.	X	565;504	.	.	S	+	2	0	IRAK3	64928121	0.006000	0.16342	0.004000	0.12327	0.067000	0.16453	0.342000	0.19926	0.059000	0.16252	0.561000	0.74099	TCA		0.423	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1			5	84	0	0	0	0	5	84				
PCDH9	5101	broad.mit.edu	37	13	67801363	67801363	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr13:67801363C>T	ENST00000377865.2	-	1	1344	c.1210G>A	c.(1210-1212)Gaa>Aaa	p.E404K	PCDH9_ENST00000328454.5_Missense_Mutation_p.E404K|PCDH9_ENST00000377861.3_Missense_Mutation_p.E404K|PCDH9_ENST00000544246.1_Missense_Mutation_p.E404K|PCDH9_ENST00000456367.1_Missense_Mutation_p.E404K			Q9HC56	PCDH9_HUMAN	protocadherin 9	404	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		ACCTCTCTTTCAATAAAACAG	0.378																																						uc001vik.2		NA																	0				ovary(4)|pancreas(1)|skin(1)	6						c.(1210-1212)GAA>AAA		protocadherin 9 isoform 1 precursor							91.0	88.0	89.0					13																	67801363		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67801363C>T	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.1210G>A	13.37:g.67801363C>T	ENSP00000367096:p.Glu404Lys					PCDH9_uc001vil.2_Missense_Mutation_p.E404K|PCDH9_uc010thl.1_Missense_Mutation_p.E404K|PCDH9_uc001vin.3_Missense_Mutation_p.E404K	p.E404K	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	2	1902	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	404			Extracellular (Potential).|Cadherin 4.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.1210G>A	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.664327	0.47572	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75	6.17	6.17	0.99709	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.49150	0.1540	N	0.17901	0.54	0.80722	D	1	P;P;P;D	0.56035	0.949;0.949;0.936;0.974	P;P;P;P	0.58620	0.842;0.696;0.57;0.696	T	0.20140	-1.0284	10	0.07030	T	0.85	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	404;404;404;404	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	K	404	ENSP00000442186:E404K;ENSP00000367096:E404K;ENSP00000401699:E404K;ENSP00000332060:E404K;ENSP00000367092:E404K	ENSP00000332060:E404K	E	-	1	0	PCDH9	66699364	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.920000	0.70017	2.941000	0.99782	0.655000	0.94253	GAA		0.378	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		5	70	0	0	0	0	5	70				
MESDC1	59274	broad.mit.edu	37	15	81295191	81295191	+	Silent	SNP	C	C	T			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr15:81295191C>T	ENST00000267984.2	+	1	1897	c.579C>T	c.(577-579)ttC>ttT	p.F193F		NM_022566.2	NP_072088.1	Q9H1K6	MESD1_HUMAN	mesoderm development candidate 1	193										endometrium(1)|lung(2)	3						ACCTCAAGTTCCTGACGGACG	0.682																																						uc002bfz.2		NA																	0					0						c.(577-579)TTC>TTT		mesoderm development candidate 1							26.0	27.0	26.0					15																	81295191		2198	4294	6492	SO:0001819	synonymous_variant	59274							g.chr15:81295191C>T	AY007810	CCDS10316.1	15q13	2008-07-18			ENSG00000140406	ENSG00000140406			13519	protein-coding gene	gene with protein product		615466				11247670	Standard	NM_022566		Approved	MGC99595	uc002bfz.3	Q9H1K6	OTTHUMG00000144185	ENST00000267984.2:c.579C>T	15.37:g.81295191C>T							p.F193F	NM_022566	NP_072088	Q9H1K6	MESD1_HUMAN			1	1897	+			193						Silent	SNP	ENST00000267984.2	37	c.579C>T	CCDS10316.1																																																																																				0.682	MESDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291390.1	NM_022566		3	10	0	0	0	0	3	10				
FSD2	123722	broad.mit.edu	37	15	83447594	83447594	+	Silent	SNP	T	T	C	rs374698063	byFrequency	TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr15:83447594T>C	ENST00000334574.8	-	6	1216	c.1035A>G	c.(1033-1035)gcA>gcG	p.A345A	FSD2_ENST00000541889.1_Silent_p.A345A			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	345										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						ACTCAGGCTGTGCAGAGATTT	0.468													T|||	2	0.000399361	0.0015	0.0	5008	,	,		15702	0.0		0.0	False		,,,				2504	0.0					uc002bjd.2		NA																	0				central_nervous_system(1)	1						c.(1033-1035)GCA>GCG		fibronectin type III and SPRY domain containing		T		8,3752		0,8,1872	82.0	83.0	83.0		1035	-7.4	0.1	15		83	0,8218		0,0,4109	no	coding-synonymous	FSD2	NM_001007122.2		0,8,5981	CC,CT,TT		0.0,0.2128,0.0668		345/750	83447594	8,11970	1880	4109	5989	SO:0001819	synonymous_variant	123722							g.chr15:83447594T>C	AK122875	CCDS45332.1, CCDS61738.1	15q25.2	2013-02-11	2006-01-11	2006-01-11		ENSG00000186628		"""Fibronectin type III domain containing"""	18024	protein-coding gene	gene with protein product			"""SPRY domain containing 1"""	SPRYD1			Standard	NM_001007122		Approved	RP11-127F21	uc002bjd.2	A1L4K1		ENST00000334574.8:c.1035A>G	15.37:g.83447594T>C						FSD2_uc010uol.1_Silent_p.A345A|FSD2_uc010uom.1_Silent_p.A345A	p.A345A	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN			6	1202	-			345					B3KVG1|B7ZM02	Silent	SNP	ENST00000334574.8	37	c.1035A>G	CCDS45332.1																																																																																				0.468	FSD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418385.1	NM_001007122		3	31	0	0	0	0	3	31				
ACAN	176	broad.mit.edu	37	15	89395139	89395139	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr15:89395139T>C	ENST00000561243.1	+	10	2141	c.2141T>C	c.(2140-2142)gTa>gCa	p.V714A	ACAN_ENST00000559004.1_Missense_Mutation_p.V714A|ACAN_ENST00000352105.7_Missense_Mutation_p.V714A|ACAN_ENST00000439576.2_Missense_Mutation_p.V714A			P16112	PGCA_HUMAN	aggrecan	713	KS.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GCTGTCCCCGTAGAAGAGGAG	0.567																																						uc010upo.1		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(2140-2142)GTA>GCA		aggrecan isoform 2 precursor							48.0	62.0	57.0					15																	89395139		2068	4199	6267	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89395139T>C	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.2141T>C	15.37:g.89395139T>C	ENSP00000453342:p.Val714Ala					ACAN_uc010upp.1_Missense_Mutation_p.V714A|ACAN_uc002bna.2_RNA	p.V714A	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		11	2515	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		714					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.2141T>C	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	T	8.859	0.946507	0.18356	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02140	4.67;4.43	5.41	-5.95	0.02241	.	2.968270	0.01774	N	0.031341	T	0.02494	0.0076	L	0.36672	1.1	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42749	-0.9433	10	0.26408	T	0.33	8.615	11.3648	0.49666	0.0:0.6083:0.12:0.2717	.	714;714	E7ENV9;E7EX88	.;.	A	714	ENSP00000387356:V714A;ENSP00000341615:V714A	ENSP00000268134:V714A	V	+	2	0	ACAN	87196143	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.134000	0.10436	-0.910000	0.03847	-1.408000	0.01128	GTA		0.567	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		2	10	0	0	0	0	2	10				
XYLT1	64131	broad.mit.edu	37	16	17211720	17211720	+	Silent	SNP	C	C	T			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr16:17211720C>T	ENST00000261381.6	-	11	2424	c.2340G>A	c.(2338-2340)gtG>gtA	p.V780V		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	780					cellular response to heat (GO:0034605)|chondroitin sulfate biosynthetic process (GO:0030206)|glycosaminoglycan biosynthetic process (GO:0006024)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|protein xylosyltransferase activity (GO:0030158)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AAATGACGGTCACGGTCACAT	0.552																																						uc002dfa.2		NA																	0				ovary(4)	4						c.(2338-2340)GTG>GTA		xylosyltransferase I							185.0	151.0	163.0					16																	17211720		2197	4300	6497	SO:0001819	synonymous_variant	64131				glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	g.chr16:17211720C>T	AJ277441	CCDS10569.1	16p12	2013-02-25			ENSG00000103489	ENSG00000103489	2.4.2.26	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	15516	protein-coding gene	gene with protein product	"""protein xylosyltransferase 1"""	608124				11099377	Standard	NM_022166		Approved	XT-I, PXYLT1	uc002dfa.3	Q86Y38	OTTHUMG00000129975	ENST00000261381.6:c.2340G>A	16.37:g.17211720C>T							p.V780V	NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN			11	2425	-			780			Lumenal (Potential).		Q9H1B6	Silent	SNP	ENST00000261381.6	37	c.2340G>A	CCDS10569.1																																																																																				0.552	XYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252241.2	NM_022166		4	44	0	0	0	0	4	44				
ATP2C2	9914	broad.mit.edu	37	16	84488581	84488581	+	Nonsense_Mutation	SNP	C	C	G	rs370462334		TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr16:84488581C>G	ENST00000262429.4	+	21	2227	c.2138C>G	c.(2137-2139)tCa>tGa	p.S713*	ATP2C2_ENST00000416219.2_Nonsense_Mutation_p.S713*|ATP2C2_ENST00000420010.2_3'UTR	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	713					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GATGACTTCTCAGCCATCATG	0.552																																						uc002fhx.2		NA																	0				breast(1)|central_nervous_system(1)	2						c.(2137-2139)TCA>TGA		ATPase, Ca++ transporting, type 2C, member 2		C	stop/SER	1,4229		0,1,2114	84.0	90.0	88.0		2138	4.1	0.1	16		88	0,8478		0,0,4239	no	stop-gained	ATP2C2	NM_014861.2		0,1,6353	GG,GC,CC		0.0,0.0236,0.0079		713/947	84488581	1,12707	2115	4239	6354	SO:0001587	stop_gained	9914				ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding	g.chr16:84488581C>G	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"""ATPases / P-type"""	29103	protein-coding gene	gene with protein product	"""secretory pathway calcium ATPase 2"""	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.2138C>G	16.37:g.84488581C>G	ENSP00000262429:p.Ser713*					ATP2C2_uc010chj.2_Nonsense_Mutation_p.S713*|ATP2C2_uc002fhy.2_Nonsense_Mutation_p.S730*|ATP2C2_uc002fhz.2_Nonsense_Mutation_p.S562*	p.S713*	NM_014861	NP_055676	O75185	AT2C2_HUMAN			21	2227	+			713			Extracellular (Potential).		B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Nonsense_Mutation	SNP	ENST00000262429.4	37	c.2138C>G	CCDS42207.1	.	.	.	.	.	.	.	.	.	.	C	39	7.910022	0.98557	2.36E-4	0.0	ENSG00000064270	ENST00000416219;ENST00000262429;ENST00000420010	.	.	.	5.09	4.13	0.48395	.	0.445994	0.20671	N	0.087822	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	13.988	0.64348	0.1528:0.8471:0.0:0.0	.	.	.	.	X	713;713;562	.	ENSP00000262429:S713X	S	+	2	0	ATP2C2	83046082	0.973000	0.33851	0.090000	0.20809	0.797000	0.45037	2.394000	0.44450	1.137000	0.42214	0.655000	0.94253	TCA		0.552	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433404.1	NM_014861		4	39	0	0	0	0	4	39				
ANKRD40	91369	broad.mit.edu	37	17	48777098	48777098	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr17:48777098C>T	ENST00000285243.6	-	3	709	c.440G>A	c.(439-441)gGc>gAc	p.G147D	Y_RNA_ENST00000364470.1_RNA	NM_052855.3	NP_443087.1	Q6AI12	ANR40_HUMAN	ankyrin repeat domain 40	147										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			TGTGGAGGGGCCCCCATTCTG	0.587																																						uc002iso.2		NA																	0					0						c.(439-441)GGC>GAC		ankyrin repeat domain 40							48.0	56.0	53.0					17																	48777098		2203	4300	6503	SO:0001583	missense	91369							g.chr17:48777098C>T	BC012978	CCDS11572.1	17q21.33	2013-01-10			ENSG00000154945	ENSG00000154945		"""Ankyrin repeat domain containing"""	28233	protein-coding gene	gene with protein product						12477932	Standard	NM_052855		Approved	MGC15396	uc002iso.3	Q6AI12	OTTHUMG00000162255	ENST00000285243.6:c.440G>A	17.37:g.48777098C>T	ENSP00000285243:p.Gly147Asp						p.G147D	NM_052855	NP_443087	Q6AI12	ANR40_HUMAN	BRCA - Breast invasive adenocarcinoma(22;2.03e-09)		3	695	-			147					Q96E32	Missense_Mutation	SNP	ENST00000285243.6	37	c.440G>A	CCDS11572.1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.723369	0.30503	.	.	ENSG00000154945	ENST00000285243	T	0.23348	1.91	5.21	3.22	0.36961	.	0.491280	0.23250	N	0.050244	T	0.13286	0.0322	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.18493	-1.0335	10	0.36615	T	0.2	-5.3684	6.7227	0.23338	0.0:0.6585:0.1273:0.2142	.	147	Q6AI12	ANR40_HUMAN	D	147	ENSP00000285243:G147D	ENSP00000285243:G147D	G	-	2	0	ANKRD40	46132097	0.001000	0.12720	0.998000	0.56505	0.880000	0.50808	0.045000	0.14013	0.706000	0.31912	0.650000	0.86243	GGC		0.587	ANKRD40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368201.2	NM_052855		4	61	0	0	0	0	4	61				
PNPT1	87178	broad.mit.edu	37	2	55894995	55894995	+	Splice_Site	SNP	A	A	G			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr2:55894995A>G	ENST00000447944.2	-	12	1160		c.e12+1			NM_033109.3	NP_149100.2	Q8TCS8	PNPT1_HUMAN	polyribonucleotide nucleotidyltransferase 1						cellular response to interferon-beta (GO:0035458)|cellular response to oxidative stress (GO:0034599)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA polyadenylation (GO:0097222)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA 5'-end processing (GO:0000964)|mitochondrial RNA catabolic process (GO:0000957)|mitochondrion morphogenesis (GO:0070584)|mitotic cell cycle arrest (GO:0071850)|mRNA catabolic process (GO:0006402)|negative regulation of growth (GO:0045926)|nuclear polyadenylation-dependent mRNA catabolic process (GO:0071042)|positive regulation of miRNA catabolic process (GO:2000627)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|positive regulation of mRNA catabolic process (GO:0061014)|protein homooligomerization (GO:0051260)|protein homotrimerization (GO:0070207)|regulation of cellular respiration (GO:0043457)|regulation of cellular senescence (GO:2000772)|RNA catabolic process (GO:0006401)|RNA import into mitochondrion (GO:0035927)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|RNA polyadenylation (GO:0043631)|rRNA import into mitochondrion (GO:0035928)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrial degradosome (GO:0045025)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	3'-5'-exoribonuclease activity (GO:0000175)|miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|polyribonucleotide nucleotidyltransferase activity (GO:0004654)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GGGTATGTTTACCTTTTGTAT	0.308																																						uc002rzf.2		NA																	0					0						c.e12+1		polyribonucleotide nucleotidyltransferase 1							44.0	46.0	46.0					2																	55894995		2201	4291	6492	SO:0001630	splice_region_variant	87178				mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding	g.chr2:55894995A>G	BC053660	CCDS1856.1	2p15	2013-01-08			ENSG00000138035	ENSG00000138035			23166	protein-coding gene	gene with protein product	"""polynucleotide phosphorylase"", ""3'-5' RNA exonuclease"""	610316	"""deafness, autosomal recessive 70"""	DFNB70		12419256	Standard	NM_033109		Approved	PNPase, OLD35, old-35	uc002rzf.3	Q8TCS8	OTTHUMG00000129335	ENST00000447944.2:c.1073+1T>C	2.37:g.55894995A>G						PNPT1_uc002rzg.2_Splice_Site	p.R358_splice	NM_033109	NP_149100	Q8TCS8	PNPT1_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		12	1126	-								Q53SU0|Q68CN1|Q7Z7D1|Q8IWX1|Q96T05|Q9BRU3|Q9BVX0	Splice_Site	SNP	ENST00000447944.2	37	c.1073_splice	CCDS1856.1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.400114	0.83120	.	.	ENSG00000138035	ENST00000447944	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1668	0.81768	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PNPT1	55748499	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.787000	0.91830	2.279000	0.76181	0.529000	0.55759	.		0.308	PNPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251481.2	NM_033109	Intron	2	11	0	0	0	0	2	11				
TTN	7273	broad.mit.edu	37	2	179635016	179635016	+	Silent	SNP	C	C	G			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr2:179635016C>G	ENST00000591111.1	-	36	8636	c.8412G>C	c.(8410-8412)gtG>gtC	p.V2804V	TTN_ENST00000359218.5_Silent_p.V2758V|TTN_ENST00000460472.2_Silent_p.V2758V|TTN_ENST00000589042.1_Silent_p.V2804V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342992.6_Silent_p.V2804V|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000360870.5_Silent_p.V2804V|TTN_ENST00000342175.6_Silent_p.V2758V			Q8WZ42	TITIN_HUMAN	titin	13132					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAAGGCTGTCACATCCTTTG	0.408																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(8410-8412)GTG>GTC		titin isoform N2-A							119.0	115.0	116.0					2																	179635016		2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179635016C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.8412G>C	2.37:g.179635016C>G						TTN_uc010zfh.1_Silent_p.V2758V|TTN_uc010zfi.1_Silent_p.V2758V|TTN_uc010zfj.1_Silent_p.V2758V|TTN_uc002unb.2_Silent_p.V2804V	p.V2804V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		36	8636	-			2804					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.8412G>C																																																																																					0.408	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	69	0	0	0	0	6	69				
SPP2	6694	broad.mit.edu	37	2	234975872	234975872	+	Silent	SNP	C	C	T			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr2:234975872C>T	ENST00000168148.3	+	6	592	c.504C>T	c.(502-504)ctC>ctT	p.L168L	SPP2_ENST00000373368.1_Silent_p.L168L	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa	168					bone remodeling (GO:0046849)|negative regulation of endopeptidase activity (GO:0010951)|protein complex assembly (GO:0006461)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	endopeptidase inhibitor activity (GO:0004866)			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		TTACAGGTCTCATTTCAGACG	0.393																																						uc002vvk.1		NA																	0					0						c.(502-504)CTC>CTT		secreted phosphoprotein 2, 24kDa precursor							192.0	179.0	183.0					2																	234975872		2203	4300	6503	SO:0001819	synonymous_variant	6694				bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity	g.chr2:234975872C>T		CCDS2511.1	2q37.1	2012-08-14	2002-08-29		ENSG00000072080	ENSG00000072080			11256	protein-coding gene	gene with protein product		602637	"""secreted phosphoprotein 2, 24kD"""			9533032	Standard	XM_005246102		Approved	SPP24	uc002vvk.1	Q13103	OTTHUMG00000059208	ENST00000168148.3:c.504C>T	2.37:g.234975872C>T						SPP2_uc010fyl.1_Silent_p.L88L	p.L168L	NM_006944	NP_008875	Q13103	SPP24_HUMAN		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)	6	589	+		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)	168					A4QMV3|Q3B892|Q546M5	Silent	SNP	ENST00000168148.3	37	c.504C>T	CCDS2511.1																																																																																				0.393	SPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131313.3	NM_006944		7	84	0	0	0	0	7	84				
ALS2CL	259173	broad.mit.edu	37	3	46730899	46730899	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr3:46730899C>T	ENST00000318962.4	-	2	115	c.32G>A	c.(31-33)cGg>cAg	p.R11Q	ALS2CL_ENST00000415953.1_Missense_Mutation_p.R11Q	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	11					endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CTCCTCCAGCCGCAGCAGAGC	0.622																																						uc003cqa.1		NA																	0				breast(2)|central_nervous_system(2)|skin(1)	5						c.(31-33)CGG>CAG		ALS2 C-terminal like isoform 1							35.0	32.0	33.0					3																	46730899		2201	4298	6499	SO:0001583	missense	259173				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr3:46730899C>T	AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.32G>A	3.37:g.46730899C>T	ENSP00000313670:p.Arg11Gln					ALS2CL_uc003cqb.1_Missense_Mutation_p.R11Q|ALS2CL_uc003cqc.1_RNA	p.R11Q	NM_147129	NP_667340	Q60I27	AL2CL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)	2	222	-			11					Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Missense_Mutation	SNP	ENST00000318962.4	37	c.32G>A	CCDS2743.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.912000	0.33721	.	.	ENSG00000178038	ENST00000318962;ENST00000415953	T;T	0.55413	0.52;0.52	4.81	1.06	0.20224	.	0.192098	0.25400	N	0.030951	T	0.25005	0.0607	N	0.12746	0.255	0.58432	D	0.999998	B	0.30021	0.265	B	0.21151	0.033	T	0.03750	-1.1007	10	0.18710	T	0.47	.	6.3954	0.21609	0.0:0.5984:0.0:0.4016	.	11	Q60I27	AL2CL_HUMAN	Q	11	ENSP00000313670:R11Q;ENSP00000413223:R11Q	ENSP00000313670:R11Q	R	-	2	0	ALS2CL	46705903	0.987000	0.35691	0.992000	0.48379	0.897000	0.52465	0.083000	0.14871	0.338000	0.23692	-0.251000	0.11542	CGG		0.622	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250567.3	NM_147129		3	10	0	0	0	0	3	10				
RHOA	387	broad.mit.edu	37	3	49412905	49412905	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr3:49412905C>G	ENST00000418115.1	-	2	502	c.118G>C	c.(118-120)Gag>Cag	p.E40Q	RHOA_ENST00000454011.2_Missense_Mutation_p.E40Q|RHOA_ENST00000422781.1_Missense_Mutation_p.E40Q	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	40					actin cytoskeleton organization (GO:0030036)|androgen receptor signaling pathway (GO:0030521)|apical junction assembly (GO:0043297)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cerebral cortex cell migration (GO:0021795)|cleavage furrow formation (GO:0036089)|forebrain radial glial cell differentiation (GO:0021861)|negative chemotaxis (GO:0050919)|negative regulation of axonogenesis (GO:0050771)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification involved in bone maturation (GO:0043931)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of podosome assembly (GO:0071803)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of translation (GO:0045727)|positive regulation of vasoconstriction (GO:0045907)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion transport (GO:0051924)|regulation of cell migration (GO:0030334)|regulation of dendrite development (GO:0050773)|regulation of neural precursor cell proliferation (GO:2000177)|regulation of osteoblast proliferation (GO:0033688)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|Rho protein signal transduction (GO:0007266)|skeletal muscle tissue development (GO:0007519)|small GTPase mediated signal transduction (GO:0007264)|spindle assembly involved in mitosis (GO:0090307)|stress fiber assembly (GO:0043149)|stress-activated protein kinase signaling cascade (GO:0031098)|substantia nigra development (GO:0021762)|trabecula morphogenesis (GO:0061383)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical junction complex (GO:0043296)|axon (GO:0030424)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin binding (GO:0017022)	p.E40Q(1)		cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		ACATAGTTCTCAAACACTGTG	0.438																																						uc003cwu.2		NA																	1	Substitution - Missense(1)		upper_aerodigestive_tract(1)	ovary(2)	2						c.(118-120)GAG>CAG		ras homolog gene family, member A precursor	Atorvastatin(DB01076)|Simvastatin(DB00641)						157.0	147.0	150.0					3																	49412905		2203	4300	6503	SO:0001583	missense	387				axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding	g.chr3:49412905C>G	BC001360	CCDS2795.1	3p21.3	2012-02-27	2012-02-27	2004-03-23	ENSG00000067560	ENSG00000067560			667	protein-coding gene	gene with protein product		165390	"""ras homolog gene family, member A"""	ARH12, ARHA		9605859	Standard	NM_001664		Approved	RhoA, Rho12, RHOH12	uc003cwu.3	P61586	OTTHUMG00000156838	ENST00000418115.1:c.118G>C	3.37:g.49412905C>G	ENSP00000400175:p.Glu40Gln					RHOA_uc010hku.2_5'UTR	p.E40Q	NM_001664	NP_001655	P61586	RHOA_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	2	394	-			40			Effector region (Potential).		P06749|Q53HM4|Q5U024|Q9UDJ0|Q9UEJ4	Missense_Mutation	SNP	ENST00000418115.1	37	c.118G>C	CCDS2795.1	.	.	.	.	.	.	.	.	.	.	C	33	5.246636	0.95305	.	.	ENSG00000067560	ENST00000418115;ENST00000454011;ENST00000422781;ENST00000445425;ENST00000431929	T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28	5.89	5.89	0.94794	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.87581	0.6213	M	0.78801	2.425	0.80722	D	1	B	0.30406	0.278	P	0.45276	0.475	D	0.86575	0.1850	10	0.87932	D	0	.	18.8947	0.92419	0.0:1.0:0.0:0.0	.	40	P61586	RHOA_HUMAN	Q	40	ENSP00000400175:E40Q;ENSP00000394483:E40Q;ENSP00000413587:E40Q;ENSP00000408402:E40Q;ENSP00000400747:E40Q	ENSP00000400175:E40Q	E	-	1	0	RHOA	49387909	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.687000	0.84139	2.809000	0.96659	0.558000	0.71614	GAG		0.438	RHOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346157.3	NM_001664		11	78	0	0	0	0	11	78				
MCM2	4171	broad.mit.edu	37	3	127335797	127335797	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr3:127335797G>A	ENST00000265056.7	+	10	1853	c.1609G>A	c.(1609-1611)Gag>Aag	p.E537K		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	537	MCM.				cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)			ovary(3)|skin(2)|stomach(1)	6						CAAGTATATTGAGAAAGTGTC	0.597																																						uc003ejp.2		NA																	0				ovary(3)|skin(1)	4						c.(1609-1611)GAG>AAG		minichromosome maintenance complex component 2							69.0	73.0	71.0					3																	127335797		2203	4300	6503	SO:0001583	missense	4171				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding	g.chr3:127335797G>A	X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"""mitotin"""	116945	"""minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)"", ""MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"""	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.1609G>A	3.37:g.127335797G>A	ENSP00000265056:p.Glu537Lys					MCM2_uc011bkm.1_Missense_Mutation_p.E407K|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Missense_Mutation_p.E490K	p.E537K	NM_004526	NP_004517	P49736	MCM2_HUMAN			10	1666	+			537			MCM.		Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Missense_Mutation	SNP	ENST00000265056.7	37	c.1609G>A	CCDS3043.1	.	.	.	.	.	.	.	.	.	.	G	36	5.843278	0.97016	.	.	ENSG00000073111	ENST00000265056;ENST00000539922;ENST00000543142	T	0.11063	2.81	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.41419	0.1158	M	0.87456	2.885	0.80722	D	1	D;D;D	0.62365	0.989;0.981;0.991	P;D;D	0.70227	0.886;0.941;0.968	T	0.40961	-0.9535	10	0.87932	D	0	-42.6044	19.8362	0.96658	0.0:0.0:1.0:0.0	.	587;407;537	F5H1E9;B4DSV5;P49736	.;.;MCM2_HUMAN	K	537;441;587	ENSP00000265056:E537K	ENSP00000265056:E537K	E	+	1	0	MCM2	128818487	1.000000	0.71417	0.930000	0.37139	0.947000	0.59692	9.705000	0.98719	2.684000	0.91462	0.585000	0.79938	GAG		0.597	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			6	117	0	0	0	0	6	117				
PIK3CA	5290	broad.mit.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2	E545K(RERFLCSQ1_LUNG)|E545K(KYSE510_OESOPHAGUS)|E545K(NCIH508_LARGE_INTESTINE)|E545K(HCC202_BREAST)|E545K(BFTC909_KIDNEY)|E545K(HCT15_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(MCF7_BREAST)|E545K(NCIH460_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(BC3C_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		899	Substitution - Missense(899)	p.E545K(735)|p.E545A(75)|p.E545G(55)|p.E545?(19)|p.E545D(15)|p.E545Q(12)|p.E545V(4)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(1633-1635)GAG>AAG		phosphoinositide-3-kinase, catalytic, alpha							61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936091G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E545K	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1790	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		545		E -> G (in KERSEB).|E -> A (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1633G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			5	21	0	0	0	0	5	21				
SMR3B	10879	broad.mit.edu	37	4	71255552	71255552	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr4:71255552C>A	ENST00000304915.3	+	3	376	c.227C>A	c.(226-228)cCt>cAt	p.P76H	SMR3B_ENST00000504825.1_Missense_Mutation_p.P76H	NM_006685.3	NP_006676.1	P02814	SMR3B_HUMAN	submaxillary gland androgen regulated protein 3B	76	Poly-Pro.|Pro-rich.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				large_intestine(2)|lung(3)|skin(2)	7		all_hematologic(202;0.196)				CCACCACCCCCTCCTCAACCC	0.582																																						uc011cas.1		NA																	0				skin(1)	1						c.(226-228)CCT>CAT		submaxillary gland androgen regulated protein 3							117.0	109.0	111.0					4																	71255552		2203	4300	6503	SO:0001583	missense	10879					extracellular space		g.chr4:71255552C>A	D29833	CCDS3540.1	4q13.3	2008-02-27	2008-02-27	2005-02-07	ENSG00000171201	ENSG00000171201			17326	protein-coding gene	gene with protein product		611593	"""proline rich 3"", ""submaxillary gland androgen regulated protein 3 homolog B (mouse)"""	PROL3		7982889, 479131	Standard	NM_006685		Approved	P-B, PRL3		P02814	OTTHUMG00000129396	ENST00000304915.3:c.227C>A	4.37:g.71255552C>A	ENSP00000302400:p.Pro76His					SMR3B_uc003hfh.2_Missense_Mutation_p.P76H	p.P76H	NM_006685	NP_006676	P02814	SMR3B_HUMAN			3	308	+		all_hematologic(202;0.196)	76			Poly-Pro.|Pro-rich.		B7ZMG7|Q9UBN0|Q9UCT0	Missense_Mutation	SNP	ENST00000304915.3	37	c.227C>A	CCDS3540.1	.	.	.	.	.	.	.	.	.	.	C	1.467	-0.560922	0.03939	.	.	ENSG00000171201	ENST00000504825;ENST00000304915	T;T	0.34667	1.35;1.35	1.46	-0.674	0.11369	.	.	.	.	.	T	0.20941	0.0504	.	.	.	0.09310	N	1	B	0.31383	0.321	B	0.23018	0.043	T	0.17623	-1.0363	8	0.87932	D	0	.	3.2523	0.06819	0.2949:0.4136:0.2915:0.0	.	76	P02814	SMR3B_HUMAN	H	76	ENSP00000423138:P76H;ENSP00000302400:P76H	ENSP00000302400:P76H	P	+	2	0	SMR3B	71290141	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.259000	0.08721	-0.222000	0.09958	0.205000	0.17691	CCT		0.582	SMR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251552.2	NM_006685		6	89	1	0	3.6e-05	3.88e-05	6	89				
CDH10	1008	broad.mit.edu	37	5	24487840	24487840	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr5:24487840C>G	ENST00000264463.4	-	12	2806	c.2299G>C	c.(2299-2301)Gaa>Caa	p.E767Q	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	767					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GGGCCCCATTCTCGGAGGTAA	0.413										HNSCC(23;0.051)																												uc003jgr.1		NA																	0				ovary(6)|pancreas(4)|breast(2)	12						c.(2299-2301)GAA>CAA		cadherin 10, type 2 preproprotein							164.0	165.0	165.0					5																	24487840		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24487840C>G	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.2299G>C	5.37:g.24487840C>G	ENSP00000264463:p.Glu767Gln	HNSCC(23;0.051)				CDH10_uc011cnu.1_RNA	p.E767Q	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	12	2631	-			767			Cytoplasmic (Potential).		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.2299G>C	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.554790	0.65425	.	.	ENSG00000040731	ENST00000264463	T	0.76839	-1.05	5.81	4.94	0.65067	Cadherin, cytoplasmic domain (1);	0.248736	0.46758	D	0.000276	D	0.83372	0.5240	M	0.70595	2.14	0.36426	D	0.86461	D	0.58268	0.982	P	0.54431	0.752	D	0.88521	0.3096	10	0.87932	D	0	.	13.7598	0.62959	0.0:0.9267:0.0:0.0733	.	767	Q9Y6N8	CAD10_HUMAN	Q	767	ENSP00000264463:E767Q	ENSP00000264463:E767Q	E	-	1	0	CDH10	24523597	1.000000	0.71417	0.967000	0.41034	0.998000	0.95712	1.385000	0.34408	1.467000	0.48044	0.655000	0.94253	GAA		0.413	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		6	118	0	0	0	0	6	118				
ANKHD1	54882	broad.mit.edu	37	5	139909243	139909243	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr5:139909243G>T	ENST00000360839.2	+	29	6866	c.6712G>T	c.(6712-6714)Gct>Tct	p.A2238S	ANKHD1_ENST00000544120.1_Missense_Mutation_p.A621S|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.A2238S|SNORD45_ENST00000363181.1_RNA|ANKHD1_ENST00000297183.6_Missense_Mutation_p.A2238S	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	2238						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCACGAGTTGCTACAGATGC	0.507																																						uc003lfs.1		NA																	0				ovary(6)	6						c.(6712-6714)GCT>TCT		ANKHD1-EIF4EBP3 protein							210.0	194.0	200.0					5																	139909243		2203	4300	6503	SO:0001583	missense	404734					cytoplasm|nucleus	RNA binding	g.chr5:139909243G>T	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.6712G>T	5.37:g.139909243G>T	ENSP00000354085:p.Ala2238Ser					ANKHD1_uc003lfr.2_Missense_Mutation_p.A2238S|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.A977S|ANKHD1_uc003lfw.2_Missense_Mutation_p.A876S|ANKHD1_uc010jfl.2_Missense_Mutation_p.A673S|ANKHD1-EIF4EBP3_uc003lfx.1_Missense_Mutation_p.A375S	p.A2238S	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		29	6836	+			2238					A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	ENST00000360839.2	37	c.6712G>T	CCDS4225.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.07|13.07	2.128703|2.128703	0.37533|0.37533	.|.	.|.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996;ENSG00000254996|ENSG00000131503	ENST00000360839;ENST00000297183;ENST00000253810;ENST00000431508;ENST00000433049;ENST00000544120;ENST00000532219;ENST00000437495|ENST00000435794;ENST00000432301	T;T;T;T;T;T;T|.	0.67865|.	-0.23;-0.29;1.82;1.81;1.41;-0.29;0.76|.	4.8|4.8	3.94|3.94	0.45596|0.45596	.|.	0.125197|.	0.56097|.	D|.	0.000040|.	T|T	0.45915|0.45915	0.1366|0.1366	L|L	0.44542|0.44542	1.39|1.39	0.31376|0.31376	N|N	0.679551|0.679551	D;D;D;B;B;D|.	0.63046|.	0.987;0.959;0.992;0.3;0.131;0.959|.	P;P;P;B;B;P|.	0.61275|.	0.772;0.689;0.886;0.067;0.058;0.766|.	T|T	0.51036|0.51036	-0.8756|-0.8756	10|5	0.46703|.	T|.	0.11|.	.|.	9.9927|9.9927	0.41881|0.41881	0.1551:0.0:0.8449:0.0|0.1551:0.0:0.8449:0.0	.|.	621;668;621;2238;2238;2238|.	Q8IWG5;Q9H059;F6WFL0;E9PF56;Q8IWZ2;Q8IWZ3|.	.;.;.;.;.;ANKH1_HUMAN|.	S|F	2238;2238;2238;894;760;621;2238;249|728;688	ENSP00000354085:A2238S;ENSP00000297183:A2238S;ENSP00000393204:A894S;ENSP00000390034:A760S;ENSP00000437687:A621S;ENSP00000432016:A2238S;ENSP00000396882:A249S|.	ENSP00000396882:A249S|.	A|C	+|+	1|2	0|0	ANKHD1-EIF4EBP3;ANKHD1|ANKHD1	139889427|139889427	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.764000|0.764000	0.43329|0.43329	3.868000|3.868000	0.56055|0.56055	1.399000|1.399000	0.46721|0.46721	0.591000|0.591000	0.81541|0.81541	GCT|TGC		0.507	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		8	101	1	0	1.13e-05	1.24e-05	8	101				
NDST1	3340	broad.mit.edu	37	5	149900959	149900959	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr5:149900959C>T	ENST00000261797.6	+	2	645	c.143C>T	c.(142-144)tCg>tTg	p.S48L	NDST1_ENST00000523767.1_Missense_Mutation_p.S48L	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	48	Heparan sulfate N-deacetylase 1.				carbohydrate metabolic process (GO:0005975)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|midbrain development (GO:0030901)|polysaccharide biosynthetic process (GO:0000271)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGGAGCCCTCGGCGGATGCC	0.652																																						uc003lsk.3		NA																	0				breast(1)|skin(1)	2						c.(142-144)TCG>TTG		N-deacetylase/N-sulfotransferase (heparan							78.0	78.0	78.0					5																	149900959		2203	4300	6503	SO:0001583	missense	3340				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr5:149900959C>T	U18918	CCDS34277.1, CCDS75358.1	5q33.1	2008-02-05				ENSG00000070614		"""Sulfotransferases, membrane-bound"""	7680	protein-coding gene	gene with protein product		600853		HSST		7601448, 9230113	Standard	NM_001543		Approved	NST1	uc003lsk.4	P52848		ENST00000261797.6:c.143C>T	5.37:g.149900959C>T	ENSP00000261797:p.Ser48Leu					NDST1_uc011dcj.1_Missense_Mutation_p.S48L|NDST1_uc003lsl.2_Missense_Mutation_p.S48L	p.S48L	NM_001543	NP_001534	P52848	NDST1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	645	+		all_hematologic(541;0.224)	48			Heparan sulfate N-deacetylase 1.|Lumenal (Potential).		Q96E57	Missense_Mutation	SNP	ENST00000261797.6	37	c.143C>T	CCDS34277.1	.	.	.	.	.	.	.	.	.	.	C	12.43	1.934410	0.34096	.	.	ENSG00000070614	ENST00000522491;ENST00000519157;ENST00000523767;ENST00000261797	T;T;T	0.43294	0.95;0.97;1.3	5.22	5.22	0.72569	.	0.309407	0.30252	N	0.010046	T	0.41766	0.1173	M	0.62723	1.935	0.52099	D	0.999942	B;B;B	0.22276	0.004;0.067;0.021	B;B;B	0.18263	0.002;0.009;0.021	T	0.37337	-0.9710	10	0.10902	T	0.67	.	19.1774	0.93607	0.0:1.0:0.0:0.0	.	48;48;48	E7EVJ3;P52848-2;P52848	.;.;NDST1_HUMAN	L	48	ENSP00000427813:S48L;ENSP00000428604:S48L;ENSP00000261797:S48L	ENSP00000261797:S48L	S	+	2	0	NDST1	149881152	1.000000	0.71417	0.996000	0.52242	0.351000	0.29236	4.880000	0.63107	2.595000	0.87683	0.655000	0.94253	TCG		0.652	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374314.2	NM_001543		7	75	0	0	0	0	7	75				
PRRC2A	7916	broad.mit.edu	37	6	31598918	31598918	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr6:31598918G>A	ENST00000376033.2	+	16	2702	c.2468G>A	c.(2467-2469)aGc>aAc	p.S823N	PRRC2A_ENST00000376007.4_Missense_Mutation_p.S823N	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	823	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CTCTTCAGGAGCGAGACTCCT	0.488																																						uc003nvb.3		NA																	0					0						c.(2467-2469)AGC>AAC		HLA-B associated transcript-2							93.0	107.0	102.0					6																	31598918		1509	2709	4218	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31598918G>A	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.2468G>A	6.37:g.31598918G>A	ENSP00000365201:p.Ser823Asn					BAT2_uc011dnv.1_Intron|BAT2_uc003nvc.3_Missense_Mutation_p.S823N	p.S823N	NM_080686	NP_542417	P48634	PRC2A_HUMAN			16	2717	+			823			4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.2468G>A	CCDS4708.1	.	.	.	.	.	.	.	.	.	.	G	9.876	1.200270	0.22121	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.02050	4.48;4.48	5.07	5.07	0.68467	.	0.000000	0.64402	D	0.000003	T	0.02455	0.0075	L	0.29908	0.895	0.47153	D	0.999334	D	0.58268	0.982	P	0.55545	0.778	T	0.57370	-0.7823	10	0.87932	D	0	-10.2851	12.4531	0.55688	0.0:0.0:0.8323:0.1677	.	823	P48634	PRC2A_HUMAN	N	823;812;823;823;48	ENSP00000365175:S823N;ENSP00000365201:S823N	ENSP00000365175:S823N	S	+	2	0	PRRC2A	31706897	1.000000	0.71417	0.977000	0.42913	0.982000	0.71751	4.614000	0.61183	2.653000	0.90120	0.561000	0.74099	AGC		0.488	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		9	91	0	0	0	0	9	91				
BRPF3	27154	broad.mit.edu	37	6	36175192	36175192	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr6:36175192C>T	ENST00000357641.6	+	4	1961	c.1708C>T	c.(1708-1710)Cgg>Tgg	p.R570W	BRPF3_ENST00000443324.2_Missense_Mutation_p.R570W|BRPF3_ENST00000534694.1_Missense_Mutation_p.R570W|BRPF3_ENST00000534400.1_Missense_Mutation_p.R570W|BRPF3_ENST00000339717.7_Missense_Mutation_p.R570W|BRPF3_ENST00000543502.1_Missense_Mutation_p.R570W	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	570					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						TGAGCTGATTCGGAAGAGAGA	0.547																																						uc003olv.3		NA																	0				ovary(1)|skin(1)	2						c.(1708-1710)CGG>TGG		bromodomain and PHD finger containing, 3							50.0	47.0	48.0					6																	36175192		2203	4300	6503	SO:0001583	missense	27154				histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding	g.chr6:36175192C>T	AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.1708C>T	6.37:g.36175192C>T	ENSP00000350267:p.Arg570Trp					BRPF3_uc010jwb.2_Missense_Mutation_p.R570W|BRPF3_uc011dtj.1_RNA|BRPF3_uc010jwc.2_RNA|BRPF3_uc011dtk.1_Missense_Mutation_p.R570W	p.R570W	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN			4	1932	+			570					A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Missense_Mutation	SNP	ENST00000357641.6	37	c.1708C>T	CCDS34437.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.178685	0.78564	.	.	ENSG00000096070	ENST00000357641;ENST00000339717;ENST00000534694;ENST00000543502;ENST00000443324;ENST00000534400	T;T;T;T;T;T	0.21361	2.24;2.27;2.26;2.27;2.26;2.01	4.86	4.86	0.63082	Bromodomain (1);	0.000000	0.85682	D	0.000000	T	0.41604	0.1166	M	0.74546	2.27	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.43972	-0.9358	10	0.87932	D	0	.	18.3462	0.90322	0.0:1.0:0.0:0.0	.	570;570;570	B7ZLN5;Q17RB6;Q9ULD4	.;.;BRPF3_HUMAN	W	570	ENSP00000350267:R570W;ENSP00000345419:R570W;ENSP00000434501:R570W;ENSP00000445352:R570W;ENSP00000387368:R570W;ENSP00000436504:R570W	ENSP00000345419:R570W	R	+	1	2	BRPF3	36283170	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.729000	0.84864	2.409000	0.81822	0.655000	0.94253	CGG		0.547	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040335.3	NM_015695		4	29	0	0	0	0	4	29				
COL19A1	1310	broad.mit.edu	37	6	70637839	70637839	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr6:70637839T>C	ENST00000322773.4	+	5	407	c.305T>C	c.(304-306)gTa>gCa	p.V102A		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	102	Laminin G-like.				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GAGTACTCAGTAGCTGCCATG	0.418																																						uc003pfc.1		NA																	0				ovary(2)|breast(2)	4						c.(304-306)GTA>GCA		alpha 1 type XIX collagen precursor							129.0	129.0	129.0					6																	70637839		2203	4300	6503	SO:0001583	missense	1310				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	g.chr6:70637839T>C		CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.305T>C	6.37:g.70637839T>C	ENSP00000316030:p.Val102Ala					COL19A1_uc010kam.1_5'UTR	p.V102A	NM_001858	NP_001849	Q14993	COJA1_HUMAN			5	422	+			102			TSP N-terminal.		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	ENST00000322773.4	37	c.305T>C	CCDS4970.1	.	.	.	.	.	.	.	.	.	.	T	8.984	0.976107	0.18736	.	.	ENSG00000082293	ENST00000322773	T	0.15718	2.4	5.71	5.71	0.89125	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.602886	0.15112	N	0.279907	T	0.05135	0.0137	N	0.08118	0	0.80722	D	1	B	0.23377	0.084	B	0.19148	0.024	T	0.23511	-1.0186	10	0.59425	D	0.04	.	15.9886	0.80183	0.0:0.0:0.0:1.0	.	102	Q14993	COJA1_HUMAN	A	102	ENSP00000316030:V102A	ENSP00000316030:V102A	V	+	2	0	COL19A1	70694560	0.980000	0.34600	0.006000	0.13384	0.060000	0.15804	7.500000	0.81588	2.173000	0.68751	0.533000	0.62120	GTA		0.418	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041127.1			8	85	0	0	0	0	8	85				
EPB41L2	2037	broad.mit.edu	37	6	131191239	131191239	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr6:131191239C>G	ENST00000337057.3	-	15	2252	c.2071G>C	c.(2071-2073)Gag>Cag	p.E691Q	EPB41L2_ENST00000527659.1_Missense_Mutation_p.E621Q|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000529208.1_Missense_Mutation_p.E621Q|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000530481.1_Missense_Mutation_p.E621Q|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000527411.1_Missense_Mutation_p.E621Q|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000368128.2_Missense_Mutation_p.E691Q|EPB41L2_ENST00000524581.1_Missense_Mutation_p.E69Q	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	691					cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TTCTTCTCCTCCACTATATTC	0.393																																						uc003qch.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(2071-2073)GAG>CAG		erythrocyte membrane protein band 4.1-like 2							41.0	44.0	43.0					6																	131191239		2194	4294	6488	SO:0001583	missense	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131191239C>G	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.2071G>C	6.37:g.131191239C>G	ENSP00000338481:p.Glu691Gln					EPB41L2_uc003qce.1_Missense_Mutation_p.E69Q|EPB41L2_uc003qcf.1_Intron|EPB41L2_uc003qcg.1_Intron|EPB41L2_uc011eby.1_Intron|EPB41L2_uc003qci.2_Missense_Mutation_p.E621Q|EPB41L2_uc010kfk.2_Intron|EPB41L2_uc010kfl.1_Missense_Mutation_p.E621Q|EPB41L2_uc003qcd.1_5'Flank|EPB41L2_uc003qcj.1_Missense_Mutation_p.E88Q	p.E691Q	NM_001431	NP_001422	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	15	2253	-	Breast(56;0.0639)		691					B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Missense_Mutation	SNP	ENST00000337057.3	37	c.2071G>C	CCDS5141.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.57|13.57	2.275755|2.275755	0.40294|0.40294	.|.	.|.	ENSG00000079819|ENSG00000079819	ENST00000530481;ENST00000337057;ENST00000257986;ENST00000425439;ENST00000368128;ENST00000527411;ENST00000524581;ENST00000527659;ENST00000529208;ENST00000527423;ENST00000525198|ENST00000456097	D;D;D;D;T;D;D;T|.	0.87887|.	-2.06;-1.74;-1.74;-1.96;-1.16;-2.31;-1.96;1.98|.	5.57|5.57	5.57|5.57	0.84162|0.84162	.|.	0.221788|.	0.46145|.	D|.	0.000319|.	T|T	0.57858|0.57858	0.2082|0.2082	M|M	0.69823|0.69823	2.125|2.125	0.28608|0.28608	N|N	0.908818|0.908818	P;D;D;D;P|.	0.89917|.	0.671;1.0;0.998;1.0;0.941|.	B;D;P;D;P|.	0.85130|.	0.207;0.963;0.878;0.997;0.493|.	T|T	0.56025|0.56025	-0.8047|-0.8047	10|5	0.72032|.	D|.	0.01|.	.|.	19.5448|19.5448	0.95287|0.95287	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	621;88;621;691;69|.	E9PHY5;E9PCC2;E9PPD9;O43491;Q6R5J7|.	.;.;.;E41L2_HUMAN;.|.	Q|A	621;691;88;621;691;621;69;621;621;90;143|233	ENSP00000434576:E621Q;ENSP00000338481:E691Q;ENSP00000357110:E691Q;ENSP00000436348:E621Q;ENSP00000437207:E69Q;ENSP00000431647:E621Q;ENSP00000436641:E621Q;ENSP00000437295:E90Q|.	ENSP00000257986:E88Q|.	E|G	-|-	1|2	0|0	EPB41L2|EPB41L2	131232932|131232932	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.359000|5.359000	0.66074|0.66074	2.629000|2.629000	0.89072|0.89072	0.555000|0.555000	0.69702|0.69702	GAG|GGA		0.393	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			6	45	0	0	0	0	6	45				
TAGAP	117289	broad.mit.edu	37	6	159457885	159457885	+	Silent	SNP	G	G	A			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr6:159457885G>A	ENST00000367066.3	-	10	1501	c.1170C>T	c.(1168-1170)agC>agT	p.S390S	RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA|TAGAP_ENST00000326965.6_Silent_p.S212S	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	390					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TTGTCACCCGGCTCTCGAGGC	0.582																																						uc003qrz.2		NA																	0				ovary(1)	1						c.(1168-1170)AGC>AGT		T-cell activation Rho GTPase-activating protein							47.0	49.0	48.0					6																	159457885		2203	4300	6503	SO:0001819	synonymous_variant	117289				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr6:159457885G>A	AF385429	CCDS5261.1, CCDS5262.1, CCDS5263.1	6q25.3	2011-09-07	2008-03-25		ENSG00000164691	ENSG00000164691		"""Rho GTPase activating proteins"""	15669	protein-coding gene	gene with protein product		609667	"""T-cell activation GTPase activating protein"""			16375659, 18311140, 18356936	Standard	NM_152133		Approved	FLJ32631, IDDM21, ARHGAP47	uc003qrz.3	Q8N103	OTTHUMG00000015923	ENST00000367066.3:c.1170C>T	6.37:g.159457885G>A						TAGAP_uc011eft.1_Silent_p.S327S|TAGAP_uc003qsa.2_Silent_p.S212S	p.S390S	NM_054114	NP_473455	Q8N103	TAGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)	10	1502	-		Breast(66;0.000776)|Ovarian(120;0.0303)	390					Q2NKM8|Q8NI40|Q96KZ2|Q96QA2	Silent	SNP	ENST00000367066.3	37	c.1170C>T	CCDS5261.1																																																																																				0.582	TAGAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042890.1	NM_054114		4	43	0	0	0	0	4	43				
SDK1	221935	broad.mit.edu	37	7	3998591	3998591	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr7:3998591G>C	ENST00000404826.2	+	8	1318	c.1179G>C	c.(1177-1179)gaG>gaC	p.E393D	SDK1_ENST00000389531.3_Missense_Mutation_p.E393D	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	393	Ig-like C2-type 4.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.E393D(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CTGAGCCCGAGAGTCGGATTT	0.458																																						uc003smx.2		NA																	1	Substitution - Missense(1)		cervix(1)	large_intestine(3)|ovary(2)|skin(1)	6						c.(1177-1179)GAG>GAC		sidekick 1 precursor							131.0	135.0	134.0					7																	3998591		2203	4300	6503	SO:0001583	missense	221935				cell adhesion	integral to membrane		g.chr7:3998591G>C	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.1179G>C	7.37:g.3998591G>C	ENSP00000385899:p.Glu393Asp						p.E393D	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	8	1318	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	393			Ig-like C2-type 4.		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	ENST00000404826.2	37	c.1179G>C	CCDS34590.1	.	.	.	.	.	.	.	.	.	.	G	11.22	1.573200	0.28092	.	.	ENSG00000146555	ENST00000404826;ENST00000389531	T;T	0.36699	1.24;1.24	5.35	0.0852	0.14440	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.251925	0.32175	N	0.006475	T	0.22975	0.0555	L	0.48218	1.51	0.09310	N	1	P	0.35872	0.525	B	0.34590	0.186	T	0.18713	-1.0328	10	0.16896	T	0.51	.	5.247	0.15502	0.2927:0.2494:0.4579:0.0	.	393	Q7Z5N4	SDK1_HUMAN	D	393	ENSP00000385899:E393D;ENSP00000374182:E393D	ENSP00000374182:E393D	E	+	3	2	SDK1	3965117	0.990000	0.36364	0.098000	0.21074	0.851000	0.48451	0.863000	0.27913	-0.195000	0.10382	-0.140000	0.14226	GAG		0.458	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		7	101	0	0	0	0	7	101				
CCDC129	223075	broad.mit.edu	37	7	31683457	31683457	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr7:31683457G>A	ENST00000407970.3	+	11	2511	c.2473G>A	c.(2473-2475)Gaa>Aaa	p.E825K	CCDC129_ENST00000451887.2_Missense_Mutation_p.E851K|CCDC129_ENST00000409210.1_Missense_Mutation_p.E733K|CCDC129_ENST00000319386.3_Missense_Mutation_p.E677K	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	825	Cys-rich.									cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CCCTGGCCCTGAACCCTCAGT	0.567																																						uc003tcj.1		NA																	0					0						c.(2473-2475)GAA>AAA		coiled-coil domain containing 129							81.0	76.0	78.0					7																	31683457		2203	4300	6503	SO:0001583	missense	223075							g.chr7:31683457G>A	AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.2473G>A	7.37:g.31683457G>A	ENSP00000384416:p.Glu825Lys					CCDC129_uc011kad.1_Missense_Mutation_p.E835K|CCDC129_uc003tci.1_Missense_Mutation_p.E676K|CCDC129_uc011kae.1_Missense_Mutation_p.E851K|CCDC129_uc003tck.1_Missense_Mutation_p.E733K	p.E825K	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN			11	3466	+			825			Cys-rich.		A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	ENST00000407970.3	37	c.2473G>A	CCDS5435.2	.	.	.	.	.	.	.	.	.	.	G	10.90	1.480548	0.26598	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.69	2.92	0.33932	.	0.954220	0.08655	N	0.913305	T	0.22044	0.0531	L	0.34521	1.04	0.09310	N	1	B;B;B;B	0.26547	0.137;0.152;0.152;0.152	B;B;B;B	0.21917	0.037;0.037;0.037;0.037	T	0.30966	-0.9960	10	0.19590	T	0.45	0.6341	7.8641	0.29526	0.2564:0.0:0.7436:0.0	.	851;835;825;677	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	K	677;825;851;835;733	ENSP00000313062:E677K;ENSP00000384416:E825K;ENSP00000395835:E851K;ENSP00000387214:E733K	ENSP00000313062:E677K	E	+	1	0	CCDC129	31649982	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	0.384000	0.20668	0.333000	0.23563	0.655000	0.94253	GAA		0.567	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318975.1	NM_194300		4	54	0	0	0	0	4	54				
DDC	1644	broad.mit.edu	37	7	50611665	50611665	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr7:50611665G>A	ENST00000444124.2	-	2	319	c.119C>T	c.(118-120)cCg>cTg	p.P40L	DDC_ENST00000380984.4_Missense_Mutation_p.P40L|DDC_ENST00000426377.1_Missense_Mutation_p.P40L|AC018705.5_ENST00000454521.1_RNA|DDC_ENST00000357936.5_Missense_Mutation_p.P40L|DDC_ENST00000431062.1_Missense_Mutation_p.P40L	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	40					catecholamine biosynthetic process (GO:0042423)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to alkaloid (GO:0071312)|cellular response to drug (GO:0035690)|cellular response to growth factor stimulus (GO:0071363)|circadian rhythm (GO:0007623)|dopamine biosynthetic process (GO:0042416)|indolalkylamine biosynthetic process (GO:0046219)|isoquinoline alkaloid metabolic process (GO:0033076)|multicellular organismal aging (GO:0010259)|phytoalexin metabolic process (GO:0052314)|response to pyrethroid (GO:0046684)|serotonin biosynthetic process (GO:0042427)|small molecule metabolic process (GO:0044281)|synaptic vesicle amine transport (GO:0015842)	axon (GO:0030424)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|synaptic vesicle (GO:0008021)	amino acid binding (GO:0016597)|aromatic-L-amino-acid decarboxylase activity (GO:0004058)|enzyme binding (GO:0019899)|L-dopa decarboxylase activity (GO:0036468)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Cycloserine(DB00260)|Droxidopa(DB06262)|Flupentixol(DB00875)|L-DOPA(DB01235)|L-Tryptophan(DB00150)|Methyldopa(DB00968)	AGGGATCAGCGGCCGCAGGTA	0.572																																						uc003tpf.3		NA																	0				ovary(2)	2						c.(118-120)CCG>CTG		dopa decarboxylase (aromatic L-amino acid	Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)						175.0	150.0	159.0					7																	50611665		2203	4300	6503	SO:0001583	missense	1644				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr7:50611665G>A		CCDS5511.1, CCDS56485.1, CCDS56486.1, CCDS56487.1, CCDS75598.1, CCDS75599.1	7p12.1	2012-08-30			ENSG00000132437	ENSG00000132437	4.1.1.28		2719	protein-coding gene	gene with protein product		107930				1612608	Standard	NM_001082971		Approved	AADC	uc003tpf.4	P20711	OTTHUMG00000023353	ENST00000444124.2:c.119C>T	7.37:g.50611665G>A	ENSP00000403644:p.Pro40Leu					DDC_uc010kza.2_Missense_Mutation_p.P40L|DDC_uc003tpg.3_Missense_Mutation_p.P40L	p.P40L	NM_000790	NP_000781	P20711	DDC_HUMAN			2	205	-	Glioma(55;0.08)|all_neural(89;0.245)		40					C9IYA0|E7ER62|E7EU95|Q16723|Q5W5T9|Q75MJ6	Missense_Mutation	SNP	ENST00000444124.2	37	c.119C>T	CCDS5511.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.11|12.11	1.839290|1.839290	0.32513|0.32513	.|.	.|.	ENSG00000132437|ENSG00000132437	ENST00000357936;ENST00000431062;ENST00000426377;ENST00000444124;ENST00000380984|ENST00000430300	T;T;T;T;T|.	0.38722|.	1.12;1.12;1.12;1.12;1.12|.	5.92|5.92	4.99|4.99	0.66335|0.66335	Pyridoxal phosphate-dependent transferase, major domain (1);|.	0.507607|.	0.24384|.	N|.	0.038999|.	T|T	0.59945|0.59945	0.2231|0.2231	M|M	0.67569|0.67569	2.06|2.06	0.21445|0.21445	N|N	0.999681|0.999681	P;P|.	0.42337|.	0.776;0.776|.	B;B|.	0.35114|.	0.196;0.196|.	T|T	0.53236|0.53236	-0.8467|-0.8467	10|5	0.87932|.	D|.	0|.	-0.5629|-0.5629	15.9236|15.9236	0.79592|0.79592	0.0:0.0:0.8643:0.1357|0.0:0.0:0.8643:0.1357	.|.	40;40|.	Q53Y41;P20711|.	.;DDC_HUMAN|.	L|C	40|6	ENSP00000350616:P40L;ENSP00000399184:P40L;ENSP00000395069:P40L;ENSP00000403644:P40L;ENSP00000370371:P40L|.	ENSP00000350616:P40L|.	P|R	-|-	2|1	0|0	DDC|DDC	50579159|50579159	0.888000|0.888000	0.30383|0.30383	0.083000|0.083000	0.20561|0.20561	0.182000|0.182000	0.23217|0.23217	4.644000|4.644000	0.61397|0.61397	2.818000|2.818000	0.97014|0.97014	0.655000|0.655000	0.94253|0.94253	CCG|CGC		0.572	DDC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342593.1			12	164	0	0	0	0	12	164				
ZNF107	51427	broad.mit.edu	37	7	64167909	64167909	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr7:64167909G>C	ENST00000395391.1	+	4	2602	c.1227G>C	c.(1225-1227)gaG>gaC	p.E409D	ZNF107_ENST00000423627.1_Missense_Mutation_p.E409D|ZNF107_ENST00000344930.3_Missense_Mutation_p.E409D			Q9UII5	ZN107_HUMAN	zinc finger protein 107	409					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				ATTCTGGAGAGAAACCATACA	0.338																																						uc003ttd.2		NA																	0				ovary(1)	1						c.(1225-1227)GAG>GAC		zinc finger protein 107							40.0	44.0	43.0					7																	64167909		2199	4299	6498	SO:0001583	missense	51427				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64167909G>C	AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"""Zinc fingers, C2H2-type"""	12887	protein-coding gene	gene with protein product		603989	"""zinc finger protein 588"", ""zinc finger protein 107 (Y8)"""	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.1227G>C	7.37:g.64167909G>C	ENSP00000378789:p.Glu409Asp					ZNF107_uc003tte.2_Missense_Mutation_p.E409D	p.E409D	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN			7	2013	+		Lung NSC(55;0.00948)|all_lung(88;0.0249)	409						Missense_Mutation	SNP	ENST00000395391.1	37	c.1227G>C	CCDS5527.1	.	.	.	.	.	.	.	.	.	.	.	21.5	4.159489	0.78226	.	.	ENSG00000196247	ENST00000344930;ENST00000423627;ENST00000395391	T;T;T	0.26810	1.71;1.71;1.71	1.27	1.27	0.21489	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22437	0.0541	L	0.49350	1.555	0.27364	N	0.955881	B	0.17038	0.02	B	0.24848	0.056	T	0.26189	-1.0110	8	.	.	.	.	7.9559	0.30042	0.0:0.0:1.0:0.0	.	409	Q9UII5	ZN107_HUMAN	D	409	ENSP00000343443:E409D;ENSP00000400037:E409D;ENSP00000378789:E409D	.	E	+	3	2	ZNF107	63805344	0.859000	0.29813	0.663000	0.29738	0.878000	0.50629	0.107000	0.15375	0.635000	0.30488	0.313000	0.20887	GAG		0.338	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1	NM_016220		5	30	0	0	0	0	5	30				
SEMA3E	9723	broad.mit.edu	37	7	82997162	82997162	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr7:82997162T>A	ENST00000307792.3	-	17	2535	c.2068A>T	c.(2068-2070)Agg>Tgg	p.R690W	SEMA3E_ENST00000427262.1_Missense_Mutation_p.R630W	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	690					axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				CTGTGATGCCTGTCCTCCTCA	0.478																																						uc003uhy.1		NA																	0				ovary(3)	3						c.(2068-2070)AGG>TGG		semaphorin 3E precursor							147.0	124.0	132.0					7																	82997162		2203	4300	6503	SO:0001583	missense	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:82997162T>A	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.2068A>T	7.37:g.82997162T>A	ENSP00000303212:p.Arg690Trp						p.R690W	NM_012431	NP_036563	O15041	SEM3E_HUMAN			17	2534	-		Medulloblastoma(109;0.109)	690					B4E1P1|Q75M94|Q75M97	Missense_Mutation	SNP	ENST00000307792.3	37	c.2068A>T	CCDS34674.1	.	.	.	.	.	.	.	.	.	.	T	9.106	1.005426	0.19199	.	.	ENSG00000170381	ENST00000307792;ENST00000427262;ENST00000541514	T;T	0.32272	1.52;1.46	5.74	-0.335	0.12662	.	4.579910	0.00166	N	0.000002	T	0.22205	0.0535	N	0.08118	0	0.09310	N	1	B	0.25235	0.121	B	0.35278	0.199	T	0.39272	-0.9622	10	0.66056	D	0.02	.	7.2286	0.26030	0.0:0.3524:0.1205:0.5271	.	690	O15041	SEM3E_HUMAN	W	690;630;690	ENSP00000303212:R690W;ENSP00000405052:R630W	ENSP00000303212:R690W	R	-	1	2	SEMA3E	82835098	0.000000	0.05858	0.001000	0.08648	0.072000	0.16883	0.030000	0.13688	-0.129000	0.11620	-0.472000	0.04984	AGG		0.478	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		6	73	0	0	0	0	6	73				
ZNF394	84124	broad.mit.edu	37	7	99097343	99097343	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr7:99097343C>T	ENST00000337673.6	-	1	577	c.374G>A	c.(373-375)cGa>cAa	p.R125Q	ZNF394_ENST00000426306.2_Missense_Mutation_p.R125Q|ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000394177.3_5'UTR|ZNF789_ENST00000494186.1_Intron	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	125	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GCAGTGCTCTCGCACCCAGGC	0.652																																					Ovarian(24;589 697 9939 12704 40742)	uc003uqs.2		NA																	0					0						c.(373-375)CGA>CAA		zinc finger protein 394							66.0	72.0	70.0					7																	99097343		2203	4300	6503	SO:0001583	missense	84124				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99097343C>T	BC025241	CCDS5666.1	7q22.1	2014-01-28			ENSG00000160908	ENSG00000160908		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	18832	protein-coding gene	gene with protein product							Standard	NM_032164		Approved	ZKSCAN14, FLJ12298, ZSCAN46	uc003uqs.3	Q53GI3	OTTHUMG00000154660	ENST00000337673.6:c.374G>A	7.37:g.99097343C>T	ENSP00000337363:p.Arg125Gln					ZNF394_uc003uqt.2_5'UTR|ZNF394_uc003uqu.1_Missense_Mutation_p.R125Q	p.R125Q	NM_032164	NP_115540	Q53GI3	ZN394_HUMAN			1	535	-	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		125			SCAN box.		A4D281|Q05DA6|Q6P5X9|Q8TB27|Q9HA37|Q9UD51	Missense_Mutation	SNP	ENST00000337673.6	37	c.374G>A	CCDS5666.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.950037	0.34377	.	.	ENSG00000160908	ENST00000337673;ENST00000426306	T;T	0.04049	3.72;3.72	3.98	3.98	0.46160	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.44483	D	0.000444	T	0.10337	0.0253	L	0.52759	1.655	0.27419	N	0.954356	D;D	0.89917	1.0;0.999	D;D	0.63793	0.916;0.918	T	0.06250	-1.0837	10	0.02654	T	1	.	11.8572	0.52444	0.0:1.0:0.0:0.0	.	125;125	Q05DA6;Q53GI3	.;ZN394_HUMAN	Q	125	ENSP00000337363:R125Q;ENSP00000409565:R125Q	ENSP00000337363:R125Q	R	-	2	0	ZNF394	98935279	0.302000	0.24454	0.932000	0.37286	0.938000	0.57974	1.356000	0.34079	2.515000	0.84797	0.561000	0.74099	CGA		0.652	ZNF394-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336498.1	NM_032164		10	105	0	0	0	0	10	105				
TAS2R60	338398	broad.mit.edu	37	7	143140947	143140947	+	Silent	SNP	G	G	A			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr7:143140947G>A	ENST00000332690.1	+	1	402	c.402G>A	c.(400-402)aaG>aaA	p.K134K	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	134					sensory perception of bitter taste (GO:0050913)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TCTGGCTAAAGCACAAGTTGT	0.478																																						uc011ktg.1		NA																	0				skin(6)	6						c.(400-402)AAG>AAA		taste receptor, type 2, member 60							180.0	170.0	173.0					7																	143140947		2203	4300	6503	SO:0001819	synonymous_variant	338398				sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143140947G>A	AY114094	CCDS5885.1	7q35	2014-07-10			ENSG00000185899	ENSG00000185899		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	20639	protein-coding gene	gene with protein product		613968				12584440	Standard	NM_177437		Approved	T2R60	uc011ktg.2	P59551	OTTHUMG00000154891	ENST00000332690.1:c.402G>A	7.37:g.143140947G>A						uc003wda.2_Intron	p.K134K	NM_177437	NP_803186	P59551	T2R60_HUMAN			1	402	+	Melanoma(164;0.172)		134			Helical; Name=4; (Potential).		A4D2G8|Q645W8|Q7RTR7	Silent	SNP	ENST00000332690.1	37	c.402G>A	CCDS5885.1																																																																																				0.478	TAS2R60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337541.1			10	140	0	0	0	0	10	140				
RAD54B	25788	broad.mit.edu	37	8	95419850	95419850	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr8:95419850C>T	ENST00000336148.5	-	5	722	c.598G>A	c.(598-600)Gat>Aat	p.D200N		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	200					ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			CTGAAGTCATCTGGAGAGATT	0.418								Direct reversal of damage;Homologous recombination																														uc003ygk.2		NA																	0				kidney(2)|lung(1)|skin(1)	4						c.(598-600)GAT>AAT	Direct_reversal_of_damage|Homologous_recombination	RAD54 homolog B							107.0	107.0	107.0					8																	95419850		2203	4300	6503	SO:0001583	missense	25788				double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	g.chr8:95419850C>T	AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.598G>A	8.37:g.95419850C>T	ENSP00000336606:p.Asp200Asn					RAD54B_uc010may.1_Missense_Mutation_p.D7N|RAD54B_uc003ygl.1_RNA	p.D200N	NM_012415	NP_036547	O95073	FSBP_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00217)		5	696	-	Breast(36;4.5e-05)		Error:Variant_position_missing_in_O95073_after_alignment					F6WBS8	Missense_Mutation	SNP	ENST00000336148.5	37	c.598G>A	CCDS6262.1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.847808	0.71603	.	.	ENSG00000197275	ENST00000336148	D	0.88818	-2.43	6.16	6.16	0.99307	.	0.153716	0.64402	D	0.000013	D	0.85995	0.5827	L	0.41824	1.3	0.80722	D	1	B	0.33583	0.418	B	0.30646	0.118	T	0.83131	-0.0113	10	0.42905	T	0.14	-5.9081	20.8598	0.99761	0.0:1.0:0.0:0.0	.	200	Q9Y620	RA54B_HUMAN	N	200	ENSP00000336606:D200N	ENSP00000336606:D200N	D	-	1	0	RAD54B	95489026	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	5.652000	0.67959	2.937000	0.99478	0.650000	0.86243	GAT		0.418	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3	NM_012415		4	53	0	0	0	0	4	53				
SHC3	53358	broad.mit.edu	37	9	91667004	91667004	+	Missense_Mutation	SNP	G	G	A	rs150757692		TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr9:91667004G>A	ENST00000375835.4	-	7	1216	c.910C>T	c.(910-912)Cgg>Tgg	p.R304W	SHC3_ENST00000375830.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	304	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				central nervous system development (GO:0007417)|epidermal growth factor receptor signaling pathway (GO:0007173)|insulin receptor signaling pathway (GO:0008286)|learning or memory (GO:0007611)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	signal transducer activity (GO:0004871)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						TGCTTAAACCGGAGCTCAAAG	0.493																																						uc004aqg.2		NA																	0				lung(3)|skin(1)	4						c.(910-912)CGG>TGG		src homology 2 domain-containing transforming		G	TRP/ARG	0,4406		0,0,2203	114.0	107.0	109.0		910	4.8	1.0	9	dbSNP_134	109	1,8599	1.2+/-3.3	0,1,4299	no	missense	SHC3	NM_016848.5	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	304/595	91667004	1,13005	2203	4300	6503	SO:0001583	missense	53358				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity	g.chr9:91667004G>A	D84361	CCDS6681.1	9q22.1	2013-02-14	2005-05-24		ENSG00000148082	ENSG00000148082		"""SH2 domain containing"""	18181	protein-coding gene	gene with protein product		605263	"""src homology 2 domain containing transforming protein C3"""			8808684	Standard	NM_016848		Approved	N-Shc, NSHC, SHCC	uc004aqf.2	Q92529	OTTHUMG00000020179	ENST00000375835.4:c.910C>T	9.37:g.91667004G>A	ENSP00000364995:p.Arg304Trp						p.R304W	NM_016848	NP_058544	Q92529	SHC3_HUMAN			7	1217	-			304			PID.		Q5T7I7|Q8TAP2|Q9UCX5	Missense_Mutation	SNP	ENST00000375835.4	37	c.910C>T	CCDS6681.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.027262	0.93518	0.0	1.16E-4	ENSG00000148082	ENST00000375835	T	0.15372	2.43	4.8	4.8	0.61643	Phosphotyrosine interaction (PID/PI) (1);Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.50205	0.1602	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.60021	-0.7344	10	0.87932	D	0	-7.7732	18.0231	0.89261	0.0:0.0:1.0:0.0	.	304	Q92529	SHC3_HUMAN	W	304	ENSP00000364995:R304W	ENSP00000364995:R304W	R	-	1	2	SHC3	90856824	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.729000	0.91490	2.644000	0.89710	0.655000	0.94253	CGG		0.493	SHC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052986.1	NM_016848		4	47	0	0	0	0	4	47				
ZNF483	158399	broad.mit.edu	37	9	114304152	114304152	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr9:114304152G>C	ENST00000309235.5	+	6	1095	c.937G>C	c.(937-939)Gaa>Caa	p.E313Q	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	313					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						TAATTTCAAAGAAACTTCAGA	0.378																																						uc004bff.2		NA																	0				skin(1)	1						c.(937-939)GAA>CAA		zinc finger protein 483 isoform a							93.0	104.0	100.0					9																	114304152		2202	4300	6502	SO:0001583	missense	158399				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr9:114304152G>C	AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.937G>C	9.37:g.114304152G>C	ENSP00000311679:p.Glu313Gln					ZNF483_uc004bfg.2_Intron	p.E313Q	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN			6	1161	+			313					Q5VZN2|Q8NAE1	Missense_Mutation	SNP	ENST00000309235.5	37	c.937G>C	CCDS35106.1	.	.	.	.	.	.	.	.	.	.	G	0.055	-1.240268	0.01493	.	.	ENSG00000173258	ENST00000309235	T	0.04360	3.64	4.32	1.47	0.22746	.	0.903441	0.09272	N	0.824962	T	0.02047	0.0064	N	0.02842	-0.48	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.45585	-0.9251	10	0.07175	T	0.84	-0.2951	8.8092	0.34956	0.0:0.3145:0.5876:0.0979	.	313	Q8TF39	ZN483_HUMAN	Q	313	ENSP00000311679:E313Q	ENSP00000311679:E313Q	E	+	1	0	ZNF483	113343973	0.000000	0.05858	0.001000	0.08648	0.048000	0.14542	-1.081000	0.03403	0.341000	0.23771	0.655000	0.94253	GAA		0.378	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053641.1	XM_088567		7	123	0	0	0	0	7	123				
COL27A1	85301	broad.mit.edu	37	9	117014887	117014887	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr9:117014887G>A	ENST00000356083.3	+	26	3439	c.3048G>A	c.(3046-3048)atG>atA	p.M1016I		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1016	Collagen-like 7.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						ATCGTGGCATGATGGGACCCC	0.612																																						uc011lxl.1		NA																	0				ovary(3)|skin(1)	4						c.(3046-3048)ATG>ATA		collagen, type XXVII, alpha 1 precursor							152.0	138.0	143.0					9																	117014887		2203	4300	6503	SO:0001583	missense	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117014887G>A	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.3048G>A	9.37:g.117014887G>A	ENSP00000348385:p.Met1016Ile					COL27A1_uc004bii.2_RNA	p.M1016I	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN			26	3048	+			1016			Pro-rich.|Collagen-like 7.|Triple-helical region.		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	c.3048G>A	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	G	11.12	1.545145	0.27652	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.93076	-3.16	4.94	3.02	0.34903	.	.	.	.	.	D	0.83543	0.5277	N	0.10972	0.075	0.20403	N	0.999908	B	0.10296	0.003	B	0.12156	0.007	T	0.70550	-0.4841	9	0.37606	T	0.19	.	5.3291	0.15922	0.1014:0.0:0.6964:0.2022	.	1016	Q8IZC6	CORA1_HUMAN	I	1016	ENSP00000348385:M1016I	ENSP00000348385:M1016I	M	+	3	0	COL27A1	116054708	0.952000	0.32445	1.000000	0.80357	0.995000	0.86356	0.529000	0.23019	2.567000	0.86603	0.491000	0.48974	ATG		0.612	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		9	98	0	0	0	0	9	98				
ZBTB34	403341	broad.mit.edu	37	9	129642755	129642755	+	Silent	SNP	T	T	C			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr9:129642755T>C	ENST00000373452.2	+	1	1129	c.1065T>C	c.(1063-1065)agT>agC	p.S355S	ZBTB34_ENST00000319119.4_Silent_p.S359S			Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	355					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						ATGAGAGCAGTCCCCGGGAGA	0.542																																						uc004bqm.3		NA																	0				ovary(1)	1						c.(1063-1065)AGT>AGC		zinc finger and BTB domain containing 34							44.0	49.0	47.0					9																	129642755		1939	4125	6064	SO:0001819	synonymous_variant	403341				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:129642755T>C	DQ227306	CCDS48023.1	9q33.3	2013-01-08			ENSG00000177125	ENSG00000177125		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	31446	protein-coding gene	gene with protein product		611692				16718364	Standard	NM_001099270		Approved	KIAA1993, MGC24652, ZNF918	uc004bqm.4	Q8NCN2	OTTHUMG00000020694	ENST00000373452.2:c.1065T>C	9.37:g.129642755T>C							p.S355S	NM_001099270	NP_001092740	Q8NCN2	ZBT34_HUMAN			2	1162	+			355					Q38IA7|Q5VYE9	Silent	SNP	ENST00000373452.2	37	c.1065T>C	CCDS48023.1																																																																																				0.542	ZBTB34-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001099270		3	30	0	0	0	0	3	30				
NOTCH1	4851	broad.mit.edu	37	9	139405640	139405640	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr9:139405640C>G	ENST00000277541.6	-	16	2626	c.2551G>C	c.(2551-2553)Gag>Cag	p.E851Q		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	851	EGF-like 22. {ECO:0000255|PROSITE- ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GAGAAGCTCTCATAGTCCTCG	0.677			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2		NA		Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(2551-2553)GAG>CAG		notch1 preproprotein							43.0	51.0	49.0					9																	139405640		2046	4177	6223	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139405640C>G	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.2551G>C	9.37:g.139405640C>G	ENSP00000277541:p.Glu851Gln	HNSCC(8;0.001)				NOTCH1_uc004cia.1_Missense_Mutation_p.E81Q	p.E851Q	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	16	2551	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	851			Extracellular (Potential).|EGF-like 22.		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.2551G>C	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	7.172	0.587860	0.13812	.	.	ENSG00000148400	ENST00000277541	D	0.86562	-2.14	4.75	4.75	0.60458	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.128845	0.52532	D	0.000068	T	0.73393	0.3581	N	0.11870	0.19	0.29801	N	0.832477	B	0.14805	0.011	B	0.16722	0.016	T	0.62455	-0.6851	10	0.14252	T	0.57	.	10.369	0.44042	0.0:0.8977:0.0:0.1023	.	851	P46531	NOTC1_HUMAN	Q	851	ENSP00000277541:E851Q	ENSP00000277541:E851Q	E	-	1	0	NOTCH1	138525461	0.988000	0.35896	0.957000	0.39632	0.432000	0.31715	2.598000	0.46223	2.183000	0.69458	0.462000	0.41574	GAG		0.677	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		5	45	0	0	0	0	5	45				
NOTCH1	4851	broad.mit.edu	37	9	139409769	139409769	+	Missense_Mutation	SNP	C	C	T	rs548000491		TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr9:139409769C>T	ENST00000277541.6	-	12	2062	c.1987G>A	c.(1987-1989)Gag>Aag	p.E663K		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	663	EGF-like 17; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CAGGCACACTCGTAGCCATCG	0.637			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			C|||	1	0.000199681	0.0	0.0	5008	,	,		16966	0.0		0.0	False		,,,				2504	0.001					uc004chz.2		NA		Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(1987-1989)GAG>AAG		notch1 preproprotein							71.0	77.0	75.0					9																	139409769		2159	4256	6415	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139409769C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1987G>A	9.37:g.139409769C>T	ENSP00000277541:p.Glu663Lys	HNSCC(8;0.001)				NOTCH1_uc004cia.1_5'Flank	p.E663K	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	12	1987	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	663			Extracellular (Potential).|EGF-like 17; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.1987G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	14.33	2.502223	0.44455	.	.	ENSG00000148400	ENST00000277541	D	0.87256	-2.23	4.79	4.79	0.61399	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	U	0.000000	D	0.84142	0.5407	N	0.04655	-0.195	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81143	-0.1067	10	0.10377	T	0.69	.	16.8345	0.85953	0.0:1.0:0.0:0.0	.	663	P46531	NOTC1_HUMAN	K	663	ENSP00000277541:E663K	ENSP00000277541:E663K	E	-	1	0	NOTCH1	138529590	1.000000	0.71417	1.000000	0.80357	0.099000	0.18886	4.746000	0.62133	2.193000	0.70182	0.467000	0.42956	GAG		0.637	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		5	46	0	0	0	0	5	46				
MCF2	4168	broad.mit.edu	37	X	138699732	138699732	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chrX:138699732C>A	ENST00000370576.4	-	8	1148	c.939G>T	c.(937-939)gaG>gaT	p.E313D	MCF2_ENST00000338585.6_Missense_Mutation_p.E313D|MCF2_ENST00000520602.1_Missense_Mutation_p.E373D|MCF2_ENST00000483690.1_5'Flank|MCF2_ENST00000370578.4_Missense_Mutation_p.E458D|MCF2_ENST00000519895.1_Missense_Mutation_p.E373D|MCF2_ENST00000414978.1_Missense_Mutation_p.E373D|MCF2_ENST00000370573.4_Missense_Mutation_p.E313D|MCF2_ENST00000536274.1_Missense_Mutation_p.E274D	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	313					apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TTGCTTTTATCTCATTAACCA	0.393																																						uc004fau.2		NA																	0				lung(1)|pleura(1)	2						c.(937-939)GAG>GAT		MCF.2 cell line derived transforming sequence							230.0	190.0	204.0					X																	138699732		2203	4300	6503	SO:0001583	missense	4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chrX:138699732C>A		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.939G>T	X.37:g.138699732C>A	ENSP00000359608:p.Glu313Asp					MCF2_uc004fav.2_Missense_Mutation_p.E313D|MCF2_uc011mwl.1_Missense_Mutation_p.E274D|MCF2_uc010nsh.1_Missense_Mutation_p.E313D|MCF2_uc011mwm.1_Missense_Mutation_p.E274D|MCF2_uc011mwn.1_Missense_Mutation_p.E458D|MCF2_uc004faw.2_Missense_Mutation_p.E373D|MCF2_uc011mwo.1_Missense_Mutation_p.E373D	p.E313D	NM_005369	NP_005360	P10911	MCF2_HUMAN			8	1233	-	Acute lymphoblastic leukemia(192;0.000127)		313			Spectrin.		B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Missense_Mutation	SNP	ENST00000370576.4	37	c.939G>T	CCDS14667.1	.	.	.	.	.	.	.	.	.	.	C	14.85	2.657044	0.47467	.	.	ENSG00000101977	ENST00000520602;ENST00000370576;ENST00000536274;ENST00000370578;ENST00000414978;ENST00000519895;ENST00000370573;ENST00000338585	T;T;T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79;0.79;0.79	5.98	5.13	0.70059	.	0.047548	0.85682	D	0.000000	T	0.49029	0.1533	M	0.72353	2.195	0.26692	N	0.971327	B;B;B;B;B;B;B;B	0.23490	0.005;0.03;0.009;0.005;0.049;0.005;0.086;0.029	B;B;B;B;B;B;B;B	0.31686	0.033;0.021;0.072;0.033;0.072;0.033;0.134;0.033	T	0.46624	-0.9178	10	0.37606	T	0.19	.	10.5047	0.44826	0.0:0.7945:0.1303:0.0752	.	373;458;274;313;313;458;313;313	E9PH77;B7Z3Z2;F5H091;B2R9S6;P10911-2;Q5JYJ7;P10911-4;P10911	.;.;.;.;.;.;.;MCF2_HUMAN	D	373;313;274;458;373;373;313;313	ENSP00000427745:E373D;ENSP00000359608:E313D;ENSP00000438155:E274D;ENSP00000359610:E458D;ENSP00000397055:E373D;ENSP00000430276:E373D;ENSP00000359605:E313D;ENSP00000342204:E313D	ENSP00000342204:E313D	E	-	3	2	MCF2	138527398	1.000000	0.71417	0.991000	0.47740	0.918000	0.54935	1.066000	0.30604	1.279000	0.44446	0.544000	0.68410	GAG		0.393	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		6	47	1	0	0.00198382	0.00211218	6	47				
MBD6	114785	broad.mit.edu	37	12	57919453	57919454	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr12:57919453_57919454insT	ENST00000355673.3	+	6	1058_1059	c.702_703insT	c.(703-705)tccfs	p.S235fs	MBD6_ENST00000431731.2_Frame_Shift_Ins_p.S235fs	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	235	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CTGCCCTCAGATCCAGCCTGGT	0.619																																						uc001soj.1		NA																	0				central_nervous_system(3)|ovary(1)	4						c.(700-705)AGATCCfs		methyl-CpG binding domain protein 6																																				SO:0001589	frameshift_variant	114785					chromosome|nucleus	chromatin binding|DNA binding	g.chr12:57919453_57919454insT	AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.703dupT	12.37:g.57919454_57919454dupT	ENSP00000347896:p.Ser235fs					MBD6_uc001sok.1_Frame_Shift_Ins_p.R101fs|MBD6_uc001sol.1_5'Flank	p.R234fs	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN			6	926_927	+			234_235			Pro-rich.		Q8N3M0|Q8NA81|Q96Q00	Frame_Shift_Ins	INS	ENST00000355673.3	37	c.702_703insT	CCDS8944.1																																																																																				0.619	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			18	154	NA	NA	NA	NA	18	154	---	---	---	---
RBM12B	389677	broad.mit.edu	37	8	94746334	94746335	+	Frame_Shift_Ins	INS	-	-	TG	rs199643296		TCGA-CV-7410-01A-21D-2078-08	TCGA-CV-7410-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b89c4f94-b07c-485b-95ba-ffe815616d78	245ef417-846c-48c1-b0ad-f66c8ff88649	g.chr8:94746334_94746335insTG	ENST00000399300.2	-	3	2517_2518	c.2304_2305insCA	c.(2302-2307)ccagagfs	p.E769fs	RBM12B_ENST00000517700.1_Frame_Shift_Ins_p.E649fs|RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	769							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CTGAAATGCTCTGGGGGTGGCC	0.673																																						uc003yfz.2		NA																	0					0						c.(2302-2307)CCAGAGfs		RNA binding motif protein 12B																																				SO:0001589	frameshift_variant	389677						nucleotide binding|RNA binding	g.chr8:94746334_94746335insTG		CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.2303_2304dupCA	8.37:g.94746335_94746336dupTG	ENSP00000382239:p.Glu769fs						p.P768fs	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		3	2497_2498	-	Breast(36;4.14e-07)		768_769					A8MYB5	Frame_Shift_Ins	INS	ENST00000399300.2	37	c.2304_2305insCA	CCDS43755.1																																																																																				0.673	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		8	75	NA	NA	NA	NA	8	75	---	---	---	---
