#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PTPN2	5771	broad.mit.edu	37	18	12802000	12802000	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr18:12802000T>C	ENST00000309660.5	-	8	1102	c.1009A>G	c.(1009-1011)Atg>Gtg	p.M337V	PTPN2_ENST00000591497.1_Missense_Mutation_p.M308V|PTPN2_ENST00000327283.3_Missense_Mutation_p.M337V|PTPN2_ENST00000353319.4_Missense_Mutation_p.M337V|PTPN2_ENST00000591115.1_Missense_Mutation_p.M360V	NM_002828.3	NP_002819.2	P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type 2	337					B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|erythrocyte differentiation (GO:0030218)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemotaxis (GO:0050922)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of interleukin-2-mediated signaling pathway (GO:1902206)|negative regulation of interleukin-4-mediated signaling pathway (GO:1902215)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage colony-stimulating factor signaling pathway (GO:1902227)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of positive thymic T cell selection (GO:1902233)|negative regulation of prolactin signaling pathway (GO:1902212)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|negative regulation of tyrosine phosphorylation of Stat1 protein (GO:0042512)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|negative regulation of tyrosine phosphorylation of Stat5 protein (GO:0042524)|negative regulation of tyrosine phosphorylation of Stat6 protein (GO:0042527)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of gluconeogenesis (GO:0045722)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|syntaxin binding (GO:0019905)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				GTATCTTGCATTTTAGAGGAA	0.348																																						ENST00000309660.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13						c.(1009-1011)Atg>Gtg		protein tyrosine phosphatase, non-receptor type 2							183.0	168.0	173.0					18																	12802000		2203	4300	6503	SO:0001583	missense	5771				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding	g.chr18:12802000T>C	M25393	CCDS11863.1, CCDS11864.1, CCDS11865.1, CCDS59306.1	18p11.3-p11.2	2011-06-09			ENSG00000175354	ENSG00000175354		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9650	protein-coding gene	gene with protein product		176887		PTPT		2164224	Standard	NM_002828		Approved	TCELLPTP, TC-PTP, TCPTP	uc002krp.3	P17706	OTTHUMG00000131702	ENST00000309660.5:c.1009A>G	18.37:g.12802000T>C	ENSP00000311857:p.Met337Val					PTPN2_ENST00000591115.1_Missense_Mutation_p.M360V|PTPN2_ENST00000591497.1_Missense_Mutation_p.M308V|PTPN2_ENST00000353319.4_Missense_Mutation_p.M337V|PTPN2_ENST00000327283.3_Missense_Mutation_p.M337V	p.M337V	NM_002828.3	NP_002819.2	P17706	PTN2_HUMAN			8	1102	-		Lung NSC(161;8.94e-06)	337					A8K955|A8MXU3|K7ENG3|Q96AU5|Q96HR2	Missense_Mutation	SNP	ENST00000309660.5	37	c.1009A>G	CCDS11865.1	.	.	.	.	.	.	.	.	.	.	T	4.334	0.061305	0.08339	.	.	ENSG00000175354	ENST00000327283;ENST00000353319;ENST00000341361;ENST00000309660	T;T;T	0.03689	3.85;3.87;3.84	5.52	1.83	0.25207	.	1.941950	0.02406	N	0.081144	T	0.03220	0.0094	N	0.13043	0.29	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.001;0.001;0.001;0.0	T	0.44314	-0.9336	10	0.25106	T	0.35	.	7.7278	0.28769	0.0:0.3644:0.0:0.6356	.	337;337;314;337;337	P17706;P17706-2;Q59F91;Q96AU5;A8K3N4	PTN2_HUMAN;.;.;.;.	V	337;337;314;337	ENSP00000320298:M337V;ENSP00000320546:M337V;ENSP00000311857:M337V	ENSP00000311857:M337V	M	-	1	0	PTPN2	12792000	0.802000	0.28943	0.123000	0.21794	0.566000	0.35808	1.061000	0.30542	0.141000	0.18875	0.455000	0.32223	ATG		0.348	PTPN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254613.3	NM_002828, NM_080422, NM_080423		122	110	0	0	0	0.048971	0	122	110				
FAT3	120114	broad.mit.edu	37	11	92533470	92533470	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr11:92533470T>C	ENST00000298047.6	+	9	7308	c.7291T>C	c.(7291-7293)Tat>Cat	p.Y2431H	FAT3_ENST00000409404.2_Missense_Mutation_p.Y2431H|FAT3_ENST00000525166.1_Missense_Mutation_p.Y2281H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2431	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCGGTTGGAATATAGCATTTT	0.478										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(7291-7293)Tat>Cat		FAT atypical cadherin 3							82.0	80.0	80.0					11																	92533470		1889	4119	6008	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92533470T>C	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.7291T>C	11.37:g.92533470T>C	ENSP00000298047:p.Tyr2431His	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.Y2431H|FAT3_ENST00000525166.1_Missense_Mutation_p.Y2281H	p.Y2431H			Q8TDW7	FAT3_HUMAN			9	7308	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2431			Cadherin 22.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.7291T>C		.	.	.	.	.	.	.	.	.	.	T	17.64	3.440099	0.63067	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.62941	-0.01;-0.01;-0.01	5.82	5.82	0.92795	.	.	.	.	.	D	0.88672	0.6500	H	0.99464	4.58	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93577	0.6909	9	0.87932	D	0	.	16.1778	0.81874	0.0:0.0:0.0:1.0	.	2431	Q8TDW7-3	.	H	2431;2431;2281	ENSP00000298047:Y2431H;ENSP00000387040:Y2431H;ENSP00000432586:Y2281H	ENSP00000298047:Y2431H	Y	+	1	0	FAT3	92173118	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.975000	0.88055	2.225000	0.72522	0.459000	0.35465	TAT		0.478	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		45	60	0	0	0	0.048971	0	45	60				
SYNJ1	8867	broad.mit.edu	37	21	34067407	34067407	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr21:34067407T>G	ENST00000322229.7	-	4	664	c.665A>C	c.(664-666)aAt>aCt	p.N222T	SYNJ1_ENST00000382499.2_Missense_Mutation_p.N261T|SYNJ1_ENST00000382491.3_Missense_Mutation_p.N222T|SYNJ1_ENST00000433931.2_Missense_Mutation_p.N261T|SYNJ1_ENST00000357345.3_Missense_Mutation_p.N222T			O43426	SYNJ1_HUMAN	synaptojanin 1	222	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				cell death (GO:0008219)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of synaptic vesicle uncoating (GO:1903390)|regulation of synaptic vesicle membrane organization (GO:1901632)|small molecule metabolic process (GO:0044281)|synaptic vesicle endocytosis (GO:0048488)	cytosol (GO:0005829)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						ACCATCATCATTTGTTCCCCG	0.358																																						ENST00000382499.2																			0				breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						c.(781-783)aAt>aCt		synaptojanin 1							135.0	124.0	128.0					21																	34067407		2203	4300	6503	SO:0001583	missense	8867						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr21:34067407T>G	AF009040	CCDS33539.1, CCDS33540.1, CCDS33539.2, CCDS33540.2, CCDS54483.1	21q22.2	2008-06-23			ENSG00000159082	ENSG00000159082			11503	protein-coding gene	gene with protein product		604297				9428629, 10773674	Standard	NM_203446		Approved	INPP5G	uc002yqh.2	O43426	OTTHUMG00000064926	ENST00000322229.7:c.665A>C	21.37:g.34067407T>G	ENSP00000322234:p.Asn222Thr					SYNJ1_ENST00000382491.3_Missense_Mutation_p.N222T|SYNJ1_ENST00000357345.3_Missense_Mutation_p.N222T|SYNJ1_ENST00000322229.7_Missense_Mutation_p.N222T|SYNJ1_ENST00000433931.2_Missense_Mutation_p.N261T	p.N261T	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN			5	781	-			222			SAC.		O43425|O94984|Q4KMR1	Missense_Mutation	SNP	ENST00000322229.7	37	c.782A>C	CCDS54484.1	.	.	.	.	.	.	.	.	.	.	T	26.6	4.753570	0.89753	.	.	ENSG00000159082	ENST00000382491;ENST00000357345;ENST00000382499;ENST00000433931;ENST00000322229;ENST00000429236	T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.03	4.96	4.96	0.65561	Synaptojanin, N-terminal (2);	0.125717	0.64402	D	0.000001	T	0.80465	0.4628	M	0.87097	2.86	0.80722	D	1	D;P;P;P;P	0.57257	0.979;0.936;0.953;0.732;0.493	D;P;P;P;B	0.65140	0.932;0.857;0.705;0.685;0.157	D	0.84618	0.0682	10	0.87932	D	0	.	14.9796	0.71301	0.0:0.0:0.0:1.0	.	222;261;222;222;222	B9EGN3;C9JFZ1;O43426-2;O43426;O43426-4	.;.;.;SYNJ1_HUMAN;.	T	222;222;261;261;222;222	ENSP00000371931:N222T;ENSP00000349903:N222T;ENSP00000371939:N261T;ENSP00000409667:N261T;ENSP00000322234:N222T;ENSP00000413649:N222T	ENSP00000322234:N222T	N	-	2	0	SYNJ1	32989278	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	7.417000	0.80156	2.012000	0.59069	0.456000	0.33151	AAT		0.358	SYNJ1-201	KNOWN	basic|CCDS	protein_coding	protein_coding				48	80	0	0	0	0.048971	0	48	80				
ITGA6	3655	broad.mit.edu	37	2	173330368	173330368	+	Missense_Mutation	SNP	C	C	A	rs535667916		TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr2:173330368C>A	ENST00000264106.6	+	2	487	c.284C>A	c.(283-285)aCg>aAg	p.T95K	ITGA6_ENST00000409532.1_5'UTR|ITGA6_ENST00000375221.2_Missense_Mutation_p.T95K|ITGA6_ENST00000409080.1_Missense_Mutation_p.T95K|ITGA6_ENST00000343713.4_Missense_Mutation_p.T95K|AC078883.3_ENST00000417539.1_RNA|AC078883.3_ENST00000458314.1_RNA|ITGA6_ENST00000264107.7_Missense_Mutation_p.T95K			P23229	ITA6_HUMAN	integrin, alpha 6	95					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			GGGCCATGCACGCGGATCGAG	0.622											OREG0015066	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000375221.2																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44						c.(283-285)aCg>aAg		integrin, alpha 6							90.0	87.0	88.0					2																	173330368		2203	4300	6503	SO:0001583	missense	0				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity	g.chr2:173330368C>A		CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"""CD molecules"", ""Integrins"""	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.284C>A	2.37:g.173330368C>A	ENSP00000264106:p.Thr95Lys		OREG0015066	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1907	ITGA6_ENST00000409080.1_Missense_Mutation_p.T95K|ITGA6_ENST00000264107.7_Missense_Mutation_p.T95K|ITGA6_ENST00000409532.1_5'UTR|AC078883.3_ENST00000417539.1_RNA|AC078883.3_ENST00000458314.1_RNA|ITGA6_ENST00000343713.4_Missense_Mutation_p.T95K|ITGA6_ENST00000264106.6_Missense_Mutation_p.T95K	p.T95K			P23229	ITA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0979)		2	487	+			95					B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	ENST00000264106.6	37	c.284C>A		.	.	.	.	.	.	.	.	.	.	C	2.455	-0.325382	0.05350	.	.	ENSG00000091409	ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358	D;D;D;D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84;-1.84;-1.84;-1.84	5.9	3.82	0.43975	.	0.619985	0.18092	N	0.151941	T	0.68247	0.2980	N	0.16368	0.405	0.21499	N	0.999662	B;B	0.06786	0.001;0.001	B;B	0.13407	0.009;0.004	T	0.50833	-0.8781	10	0.08599	T	0.76	.	6.6379	0.22893	0.2246:0.6048:0.1002:0.0704	.	95;95	G5E9H1;P23229-2	.;.	K	95	ENSP00000264107:T95K;ENSP00000264106:T95K;ENSP00000364369:T95K;ENSP00000341078:T95K;ENSP00000386896:T95K;ENSP00000406694:T95K;ENSP00000394169:T95K	ENSP00000264106:T95K	T	+	2	0	ITGA6	173038614	0.802000	0.28943	0.925000	0.36789	0.217000	0.24651	1.544000	0.36158	2.793000	0.96121	0.563000	0.77884	ACG		0.622	ITGA6-201	KNOWN	basic	protein_coding	protein_coding				39	17	1	0	6.97489e-18	0.074837	1.00438e-17	39	17				
ATP6V1A	523	broad.mit.edu	37	3	113507676	113507676	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr3:113507676G>T	ENST00000273398.3	+	7	941	c.833G>T	c.(832-834)gGt>gTt	p.G278V	ATP6V1A_ENST00000538620.1_Missense_Mutation_p.G245V	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	278					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|microvillus (GO:0005902)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	ATP binding (GO:0005524)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Alendronate(DB00630)|Etidronic acid(DB01077)|Tiludronate(DB01133)	GTAGGATGTGGTGAAAGAGGA	0.418																																						ENST00000273398.3																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(832-834)gGt>gTt		ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A							166.0	168.0	167.0					3																	113507676		2203	4300	6503	SO:0001583	missense	523				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	g.chr3:113507676G>T	L09235	CCDS2976.1	3q13.31	2010-04-21	2002-08-29	2003-04-25	ENSG00000114573	ENSG00000114573	3.6.3.14	"""ATPases / V-type"""	851	protein-coding gene	gene with protein product		607027	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), alpha polypeptide, 70kD, isoform 1"""	VPP2, ATP6A1, ATP6V1A1		8463241	Standard	NM_001690		Approved	Vma1, VA68	uc003eao.3	P38606	OTTHUMG00000159295	ENST00000273398.3:c.833G>T	3.37:g.113507676G>T	ENSP00000273398:p.Gly278Val					ATP6V1A_ENST00000538620.1_Missense_Mutation_p.G245V	p.G278V	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN			7	941	+			278					B2RBR8|B7Z1R5|D3DN75|Q53YD9|Q96DY6|Q9UHY3	Missense_Mutation	SNP	ENST00000273398.3	37	c.833G>T	CCDS2976.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315357	0.81358	.	.	ENSG00000114573	ENST00000273398;ENST00000538620	D;D	0.93189	-3.18;-3.18	5.61	4.74	0.60224	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.98207	0.9407	H	0.99238	4.48	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.99239	1.0884	10	0.87932	D	0	-15.7502	14.777	0.69738	0.0695:0.0:0.9305:0.0	.	278	P38606	VATA_HUMAN	V	278;245	ENSP00000273398:G278V;ENSP00000439874:G245V	ENSP00000273398:G278V	G	+	2	0	ATP6V1A	114990366	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.209000	0.95087	1.366000	0.46076	0.655000	0.94253	GGT		0.418	ATP6V1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354457.1	NM_001690		37	61	1	0	3.38236e-24	0.092188	4.96999e-24	37	61				
DIP2B	57609	broad.mit.edu	37	12	51138473	51138473	+	Nonsense_Mutation	SNP	G	G	T			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr12:51138473G>T	ENST00000301180.5	+	38	4616	c.4582G>T	c.(4582-4584)Gaa>Taa	p.E1528*	Y_RNA_ENST00000363558.1_RNA	NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1528						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CGTGGTCCTGGAAGAGCATTA	0.547																																						ENST00000301180.5																			0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						c.(4582-4584)Gaa>Taa		DIP2 disco-interacting protein 2 homolog B (Drosophila)							175.0	133.0	148.0					12																	51138473		2203	4300	6503	SO:0001587	stop_gained	57609					nucleus	catalytic activity|transcription factor binding	g.chr12:51138473G>T	AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.4582G>T	12.37:g.51138473G>T	ENSP00000301180:p.Glu1528*						p.E1528*	NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN			38	4616	+			1528					Q6B011|Q8N1L5|Q8NB38	Nonsense_Mutation	SNP	ENST00000301180.5	37	c.4582G>T	CCDS31799.1	.	.	.	.	.	.	.	.	.	.	G	41	9.161580	0.99085	.	.	ENSG00000066084	ENST00000301180	.	.	.	5.65	5.65	0.86999	.	0.047527	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-24.5734	19.9142	0.97043	0.0:0.0:1.0:0.0	.	.	.	.	X	1528	.	ENSP00000301180:E1528X	E	+	1	0	DIP2B	49424740	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.728000	0.84847	2.941000	0.99782	0.655000	0.94253	GAA		0.547	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1	NM_173602		16	55	1	0	6.72482e-11	0.024245	9.13561e-11	16	55				
UBAP2	55833	broad.mit.edu	37	9	33989021	33989021	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr9:33989021C>T	ENST00000379238.1	-	5	509	c.392G>A	c.(391-393)gGa>gAa	p.G131E	UBAP2_ENST00000379239.4_5'UTR|UBAP2_ENST00000418786.2_Missense_Mutation_p.G131E|UBAP2_ENST00000360802.1_Missense_Mutation_p.G131E|UBAP2_ENST00000539807.1_Intron|UBAP2_ENST00000449054.1_Missense_Mutation_p.G131E					ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		GTTTCCACGTCCACGACTCGA	0.403																																						ENST00000379238.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32						c.(391-393)gGa>gAa		ubiquitin associated protein 2							264.0	241.0	249.0					9																	33989021		2203	4300	6503	SO:0001583	missense	55833							g.chr9:33989021C>T	AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.392G>A	9.37:g.33989021C>T	ENSP00000368540:p.Gly131Glu					UBAP2_ENST00000360802.1_Missense_Mutation_p.G131E|UBAP2_ENST00000449054.1_Missense_Mutation_p.G131E|UBAP2_ENST00000418786.2_Missense_Mutation_p.G131E|UBAP2_ENST00000379239.4_5'UTR|UBAP2_ENST00000539807.1_Intron	p.G131E			Q5T6F2	UBAP2_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)	5	509	-			131						Missense_Mutation	SNP	ENST00000379238.1	37	c.392G>A	CCDS6547.1	.	.	.	.	.	.	.	.	.	.	C	12.33	1.905483	0.33628	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379260;ENST00000418786;ENST00000412543;ENST00000421278	T;T;T;T;T	0.26957	1.7;1.7;1.7;1.7;1.7	5.17	1.94	0.25998	.	0.102806	0.64402	D	0.000003	T	0.45438	0.1342	M	0.78049	2.395	0.80722	D	1	D;D;D;D;D	0.89917	0.992;1.0;0.992;1.0;1.0	D;D;P;D;D	0.81914	0.925;0.995;0.859;0.988;0.992	T	0.44877	-0.9299	10	0.14656	T	0.56	-2.3973	11.9939	0.53189	0.2513:0.639:0.1097:0.0	.	131;56;93;56;131	E7EWG4;F5H4D5;F5H2C8;B4DH66;Q5T6F2	.;.;.;.;UBAP2_HUMAN	E	131;131;131;93;71;131;131;7	ENSP00000368540:G131E;ENSP00000416932:G131E;ENSP00000354039:G131E;ENSP00000404436:G131E;ENSP00000414800:G131E	ENSP00000354039:G131E	G	-	2	0	UBAP2	33979021	1.000000	0.71417	0.962000	0.40283	0.017000	0.09413	2.715000	0.47210	0.571000	0.29365	-0.885000	0.02943	GGA		0.403	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449		6	183	0	0	0	0.029380	0	6	183				
SEC14L5	9717	broad.mit.edu	37	16	5038269	5038269	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr16:5038269C>G	ENST00000251170.7	+	4	513	c.333C>G	c.(331-333)caC>caG	p.H111Q		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	111	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						TGAACGAGCACTGCAGCTACA	0.632																																						ENST00000251170.7																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						c.(331-333)caC>caG		SEC14-like 5 (S. cerevisiae)							44.0	47.0	46.0					16																	5038269		2178	4270	6448	SO:0001583	missense	9717					integral to membrane|intracellular	transporter activity	g.chr16:5038269C>G	AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.333C>G	16.37:g.5038269C>G	ENSP00000251170:p.His111Gln						p.H111Q	NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN			4	513	+			111			PRELI/MSF1.			Missense_Mutation	SNP	ENST00000251170.7	37	c.333C>G	CCDS45403.1	.	.	.	.	.	.	.	.	.	.	C	13.16	2.155502	0.38021	.	.	ENSG00000103184	ENST00000251170	T	0.16597	2.33	4.34	3.39	0.38822	PRELI/MSF1 (2);	0.379769	0.23700	N	0.045438	T	0.18467	0.0443	L	0.54323	1.7	0.32248	N	0.571834	B	0.31705	0.336	B	0.37480	0.251	T	0.13229	-1.0517	10	0.28530	T	0.3	-29.3994	9.5812	0.39488	0.0:0.7779:0.1419:0.0802	.	111	O43304	S14L5_HUMAN	Q	111	ENSP00000251170:H111Q	ENSP00000251170:H111Q	H	+	3	2	SEC14L5	4978270	0.068000	0.21057	0.995000	0.50966	0.673000	0.39480	0.265000	0.18515	1.057000	0.40506	0.491000	0.48974	CAC		0.632	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1			10	31	0	0	0	0.069234	0	10	31				
TRPV2	51393	broad.mit.edu	37	17	16321003	16321003	+	Silent	SNP	T	T	C			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr17:16321003T>C	ENST00000338560.7	+	2	420	c.21T>C	c.(19-21)tcT>tcC	p.S7S	TRPV2_ENST00000577397.1_5'UTR|RP11-138I1.2_ENST00000580996.1_RNA	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	7	Required for interaction with SLC50A1. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CCTCCAGCTCTCCAGTTTTCA	0.577																																						ENST00000338560.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28						c.(19-21)tcT>tcC		transient receptor potential cation channel, subfamily V, member 2							74.0	64.0	67.0					17																	16321003		2203	4300	6503	SO:0001819	synonymous_variant	51393				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	g.chr17:16321003T>C	AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.21T>C	17.37:g.16321003T>C						TRPV2_ENST00000577397.1_5'UTR	p.S7S	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	2	420	+			7			Required for interaction with SLC50A1 (By similarity).		A6NML2|A8K0Z0|Q9Y670	Silent	SNP	ENST00000338560.7	37	c.21T>C	CCDS32576.1																																																																																				0.577	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130464.2	NM_016113		3	76	0	0	0	0.004672	0	3	76				
CDK17	5128	broad.mit.edu	37	12	96677410	96677410	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr12:96677410C>T	ENST00000261211.3	-	14	1939	c.1336G>A	c.(1336-1338)Gga>Aga	p.G446R	CDK17_ENST00000543119.2_Missense_Mutation_p.G446R|CDK17_ENST00000542666.1_Missense_Mutation_p.G393R	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	446	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						AACTCAATTCCTTCAGAGTCT	0.313																																						ENST00000261211.3																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						c.(1336-1338)Gga>Aga		cyclin-dependent kinase 17							87.0	90.0	89.0					12																	96677410		2203	4300	6503	SO:0001583	missense	5128						ATP binding|cyclin-dependent protein kinase activity	g.chr12:96677410C>T		CCDS9061.1, CCDS53819.1	12q23.1	2011-11-08	2009-12-16	2009-12-16		ENSG00000059758		"""Cyclin-dependent kinases"""	8750	protein-coding gene	gene with protein product		603440	"""PCTAIRE protein kinase 2"""	PCTK2		9370357, 19884882	Standard	NM_001170464		Approved	PCTAIRE2	uc009ztk.3	Q00537		ENST00000261211.3:c.1336G>A	12.37:g.96677410C>T	ENSP00000261211:p.Gly446Arg					CDK17_ENST00000542666.1_Missense_Mutation_p.G393R|CDK17_ENST00000543119.2_Missense_Mutation_p.G446R	p.G446R	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN			14	1939	-			446			Protein kinase.		A8K1U6|B2RCQ2|Q8NEB8	Missense_Mutation	SNP	ENST00000261211.3	37	c.1336G>A	CCDS9061.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.994754	0.93167	.	.	ENSG00000059758	ENST00000261211;ENST00000543119;ENST00000542666	T;T;T	0.66280	-0.2;-0.2;-0.2	5.77	5.77	0.91146	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.85057	0.5610	M	0.92317	3.295	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87855	0.2660	10	0.87932	D	0	-17.7674	19.9913	0.97366	0.0:1.0:0.0:0.0	.	446;446	A8K1U6;Q00537	.;CDK17_HUMAN	R	446;446;393	ENSP00000261211:G446R;ENSP00000444459:G446R;ENSP00000442926:G393R	ENSP00000261211:G446R	G	-	1	0	CDK17	95201541	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.811000	0.75221	2.734000	0.93682	0.585000	0.79938	GGA		0.313	CDK17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408751.1	NM_002595		6	95	0	0	0	0.021553	0	6	95				
ARHGEF10	9639	broad.mit.edu	37	8	1844605	1844605	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr8:1844605A>C	ENST00000398564.1	+	14	1622	c.1622A>C	c.(1621-1623)gAa>gCa	p.E541A	ARHGEF10_ENST00000349830.3_Missense_Mutation_p.E516A|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.E541A|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.E478A|ARHGEF10_ENST00000398560.1_Missense_Mutation_p.E502A|ARHGEF10_ENST00000518288.1_Missense_Mutation_p.E541A			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	541	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		GCTTTTCTTGAATTTTTAAAG	0.388																																						ENST00000518288.1																			0				endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35						c.(1621-1623)gAa>gCa		Rho guanine nucleotide exchange factor (GEF) 10							79.0	82.0	81.0					8																	1844605		2203	4300	6503	SO:0001583	missense	9639				centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity	g.chr8:1844605A>C	AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.1622A>C	8.37:g.1844605A>C	ENSP00000381571:p.Glu541Ala					ARHGEF10_ENST00000520359.1_Missense_Mutation_p.E478A|ARHGEF10_ENST00000398560.1_Missense_Mutation_p.E502A|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.E541A|ARHGEF10_ENST00000398564.1_Missense_Mutation_p.E541A|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.E516A	p.E541A			O15013	ARHGA_HUMAN		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)	15	1785	+		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)	541			DH.		O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Missense_Mutation	SNP	ENST00000398564.1	37	c.1622A>C		.	.	.	.	.	.	.	.	.	.	A	10.29	1.309640	0.23821	.	.	ENSG00000104728	ENST00000349830;ENST00000520359;ENST00000518288;ENST00000398560;ENST00000398564;ENST00000262112;ENST00000522435	T;T;T;T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0;-0.0;-0.0;-0.0	4.91	3.73	0.42828	Dbl homology (DH) domain (5);	0.304291	0.34268	N	0.004104	T	0.61299	0.2336	L	0.35414	1.06	0.47245	D	0.999361	P;B;P;P	0.45283	0.855;0.022;0.825;0.539	P;B;P;P	0.51701	0.677;0.136;0.525;0.597	T	0.62671	-0.6805	10	0.72032	D	0.01	-14.0089	11.672	0.51408	0.8511:0.1489:0.0:0.0	.	541;502;478;516	O15013;E9PB39;O15013-7;O15013-5	ARHGA_HUMAN;.;.;.	A	516;478;541;502;541;541;189	ENSP00000340297:E516A;ENSP00000427909:E478A;ENSP00000431012:E541A;ENSP00000381568:E502A;ENSP00000381571:E541A;ENSP00000262112:E541A;ENSP00000427768:E189A	ENSP00000262112:E541A	E	+	2	0	ARHGEF10	1832012	1.000000	0.71417	0.014000	0.15608	0.022000	0.10575	6.706000	0.74649	0.681000	0.31386	0.460000	0.39030	GAA		0.388	ARHGEF10-203	KNOWN	basic	protein_coding	protein_coding				4	82	0	0	0	0.009096	0	4	82				
DGKH	160851	broad.mit.edu	37	13	42742922	42742922	+	Silent	SNP	A	A	G	rs202090141	byFrequency	TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr13:42742922A>G	ENST00000337343.4	+	11	1356	c.1335A>G	c.(1333-1335)aaA>aaG	p.K445K	DGKH_ENST00000379274.2_Silent_p.K309K|DGKH_ENST00000261491.5_Silent_p.K445K|DGKH_ENST00000536612.1_Silent_p.K309K|DGKH_ENST00000540693.1_Silent_p.K445K|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000538674.1_Silent_p.K200K	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	445	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		TCCTAGAGAAACTGGAACGAG	0.423													A|||	2	0.000399361	0.0	0.0	5008	,	,		13652	0.002		0.0	False		,,,				2504	0.0					ENST00000379274.2																			0				breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(925-927)aaA>aaG		diacylglycerol kinase, eta							83.0	88.0	86.0					13																	42742922		2203	4300	6503	SO:0001819	synonymous_variant	160851				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr13:42742922A>G	AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.1335A>G	13.37:g.42742922A>G						DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000538674.1_Silent_p.K200K|DGKH_ENST00000337343.4_Silent_p.K445K|DGKH_ENST00000536612.1_Silent_p.K309K|DGKH_ENST00000540693.1_Silent_p.K445K|DGKH_ENST00000261491.4_Silent_p.K445K	p.K309K			Q86XP1	DGKH_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)	11	1356	+		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)	445					A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Silent	SNP	ENST00000337343.4	37	c.927A>G	CCDS9381.1																																																																																				0.423	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044699.2	NM_178009		37	15	0	0	0	0.074837	0	37	15				
MEF2C	4208	broad.mit.edu	37	5	88027604	88027604	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr5:88027604C>T	ENST00000437473.2	-	7	1169	c.752G>A	c.(751-753)cGt>cAt	p.R251H	MEF2C_ENST00000503554.1_5'Flank|MEF2C_ENST00000340208.5_Missense_Mutation_p.R269H|MEF2C_ENST00000514015.1_Missense_Mutation_p.R251H|MEF2C_ENST00000539796.1_Missense_Mutation_p.R203H|MEF2C_ENST00000514028.1_Missense_Mutation_p.R251H|MEF2C_ENST00000508569.1_Missense_Mutation_p.R251H|MEF2C_ENST00000506554.1_Missense_Mutation_p.R251H|MEF2C_ENST00000510942.1_Missense_Mutation_p.R251H|MEF2C_ENST00000424173.2_Missense_Mutation_p.R249H|MEF2C_ENST00000504921.2_Missense_Mutation_p.R251H	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	251					apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		ATCTGGTTTACGGTTATTCAT	0.388										HNSCC(66;0.2)																												ENST00000504921.2																			0				breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40						c.(751-753)cGt>cAt		myocyte enhancer factor 2C							106.0	103.0	104.0					5																	88027604		1843	4087	5930	SO:0001583	missense	4208				apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr5:88027604C>T	AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"""Myocyte enhancer factors"""	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.752G>A	5.37:g.88027604C>T	ENSP00000396219:p.Arg251His	HNSCC(66;0.2)				MEF2C_ENST00000514015.1_Missense_Mutation_p.R251H|MEF2C_ENST00000506554.1_Missense_Mutation_p.R251H|MEF2C_ENST00000437473.2_Missense_Mutation_p.R251H|MEF2C_ENST00000508569.1_Missense_Mutation_p.R251H|MEF2C_ENST00000510942.1_Missense_Mutation_p.R251H|MEF2C_ENST00000424173.2_Missense_Mutation_p.R249H|MEF2C_ENST00000539796.1_Missense_Mutation_p.R203H|MEF2C_ENST00000514028.1_Missense_Mutation_p.R251H|MEF2C_ENST00000340208.5_Missense_Mutation_p.R269H	p.R251H			Q06413	MEF2C_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)	7	1424	-		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)	251					C9JMZ0|D7F7N5|F8W7V7	Missense_Mutation	SNP	ENST00000437473.2	37	c.752G>A	CCDS47245.1	.	.	.	.	.	.	.	.	.	.	C	35	5.491084	0.96339	.	.	ENSG00000081189	ENST00000340208;ENST00000424173;ENST00000504921;ENST00000514028;ENST00000437473;ENST00000510942;ENST00000506554;ENST00000508569;ENST00000514015;ENST00000539796	T;T;T;T;T;T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.65481	0.2695	M	0.80183	2.485	0.80722	D	1	P;D;D;D	0.89917	0.573;0.962;1.0;1.0	B;P;D;D	0.79784	0.072;0.479;0.992;0.993	T	0.64931	-0.6291	10	0.54805	T	0.06	-5.019	20.5666	0.99351	0.0:1.0:0.0:0.0	.	249;269;251;251	C9JMZ0;F8W7V7;Q06413;Q06413-2	.;.;MEF2C_HUMAN;.	H	269;249;251;251;251;251;251;251;251;203	ENSP00000340874:R269H;ENSP00000389610:R249H;ENSP00000421925:R251H;ENSP00000426665:R251H;ENSP00000396219:R251H;ENSP00000422390:R251H;ENSP00000425636:R251H;ENSP00000423597:R251H;ENSP00000424606:R251H;ENSP00000441153:R203H	ENSP00000340874:R269H	R	-	2	0	MEF2C	88063360	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.854000	0.98071	0.655000	0.94253	CGT		0.388	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369817.1	NM_002397		19	30	0	0	0	0.062417	0	19	30				
TUBB8P7	197331	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	byFrequency	TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr16:90161926T>C	ENST00000564451.1	+	0	1279				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527													.|||	3140	0.626997	0.9395	0.5	5008	,	,		11330	0.7847		0.4702	False		,,,				2504	0.2935					ENST00000564451.1																			3	Substitution - Missense(3)	p.I221T(3)	kidney(2)|prostate(1)																																																0							g.chr16:90161926T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161926T>C						TUBB8P7_ENST00000567960.1_RNA								0	1279	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.527	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		3	49	0	0	0	0.009096	0	3	49				
RP11-156P1.2	0	broad.mit.edu	37	17	45127107	45127107	+	IGR	SNP	C	C	G	rs374963948		TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr17:45127107C>G	ENST00000571841.1	+	0	889				LRRC37A17P_ENST00000570478.1_RNA|RP11-156P1.3_ENST00000575173.1_RNA																							CCTTCGTTCACCCAAGAGCAT	0.592																																						ENST00000575173.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:45127107C>G																													17.37:g.45127107C>G														0	418	-									RNA	SNP	ENST00000571841.1	37																																																																																						0.592	RP11-156P1.2-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000440447.1			4	116	0	0	0	0.009096	0	4	116				
ATOH1	474	broad.mit.edu	37	4	94750645	94750645	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr4:94750645A>G	ENST00000306011.3	+	1	604	c.568A>G	c.(568-570)Aac>Gac	p.N190D		NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN	atonal homolog 1 (Drosophila)	190	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				auditory receptor cell fate determination (GO:0042668)|auditory receptor cell fate specification (GO:0042667)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|cerebral cortex development (GO:0021987)|inner ear morphogenesis (GO:0042472)|negative regulation of apoptotic process (GO:0043066)|neuron migration (GO:0001764)|positive regulation of auditory receptor cell differentiation (GO:0045609)|positive regulation of neuron differentiation (GO:0045666)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		CCCGTCGTTCAACAACGACAA	0.577																																						ENST00000306011.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(568-570)Aac>Gac		atonal homolog 1 (Drosophila)							52.0	53.0	53.0					4																	94750645		2203	4300	6503	SO:0001583	missense	474				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:94750645A>G	U61148	CCDS3638.1	4q22	2013-05-21			ENSG00000172238	ENSG00000172238		"""Basic helix-loop-helix proteins"""	797	protein-coding gene	gene with protein product		601461				8872459	Standard	NM_005172		Approved	HATH1, MATH-1, Math1, bHLHa14	uc003hta.1	Q92858	OTTHUMG00000130972	ENST00000306011.3:c.568A>G	4.37:g.94750645A>G	ENSP00000302216:p.Asn190Asp						p.N190D	NM_005172.1	NP_005163.1	Q92858	ATOH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)	1	604	+		Hepatocellular(203;0.114)	190			Helix-loop-helix motif.		Q14CT9	Missense_Mutation	SNP	ENST00000306011.3	37	c.568A>G	CCDS3638.1	.	.	.	.	.	.	.	.	.	.	A	14.14	2.447492	0.43429	.	.	ENSG00000172238	ENST00000306011	D	0.97811	-4.55	4.26	4.26	0.50523	Helix-loop-helix DNA-binding (5);	0.055580	0.64402	D	0.000001	D	0.93400	0.7895	N	0.16368	0.405	0.42300	D	0.992175	B	0.20164	0.042	B	0.22601	0.04	D	0.90787	0.4683	10	0.23302	T	0.38	-21.6602	13.2269	0.59919	1.0:0.0:0.0:0.0	.	190	Q92858	ATOH1_HUMAN	D	190	ENSP00000302216:N190D	ENSP00000302216:N190D	N	+	1	0	ATOH1	94969668	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.791000	0.47829	1.797000	0.52628	0.448000	0.29417	AAC		0.577	ATOH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253585.1	NM_005172		31	39	0	0	0	0.037714	0	31	39				
ZFPM2	23414	broad.mit.edu	37	8	106813420	106813420	+	Silent	SNP	C	C	T			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr8:106813420C>T	ENST00000407775.2	+	8	1360	c.1110C>T	c.(1108-1110)ttC>ttT	p.F370F	RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000517361.1_Silent_p.F238F|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000378472.4_Silent_p.F101F|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000520492.1_Silent_p.F238F|RP11-152P17.2_ENST00000520594.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	370					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ACTGCCATTTCGGCTTCCAGA	0.512																																						ENST00000407775.2																			0				NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99						c.(1108-1110)ttC>ttT		zinc finger protein, FOG family member 2							168.0	160.0	163.0					8																	106813420		2000	4216	6216	SO:0001819	synonymous_variant	23414				blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	g.chr8:106813420C>T	AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.1110C>T	8.37:g.106813420C>T						ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Silent_p.F238F|ZFPM2_ENST00000520492.1_Silent_p.F238F|ZFPM2_ENST00000378472.4_Silent_p.F101F|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA	p.F370F	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)		8	1360	+			370					Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Silent	SNP	ENST00000407775.2	37	c.1110C>T	CCDS47908.1																																																																																				0.512	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			9	196	0	0	0	0.069234	0	9	196				
CDC42BPB	9578	broad.mit.edu	37	14	103442221	103442221	+	Splice_Site	SNP	T	T	G			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr14:103442221T>G	ENST00000361246.2	-	10	1674	c.1386A>C	c.(1384-1386)caA>caC	p.Q462H		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TGCCCTCACCTTGCAGCTTCC	0.662																																						ENST00000361246.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49						c.e10+1		CDC42 binding protein kinase beta (DMPK-like)							75.0	78.0	77.0					14																	103442221		2203	4300	6503	SO:0001630	splice_region_variant	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103442221T>G	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.1387+1A>C	14.37:g.103442221T>G							p.Q462_splice	NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	10	1674	-		Melanoma(154;0.155)	462						Splice_Site	SNP	ENST00000361246.2	37	c.1387_splice	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.296779	0.81025	.	.	ENSG00000198752	ENST00000361246	T	0.66815	-0.23	5.8	0.291	0.15732	.	0.000000	0.85682	D	0.000000	T	0.78336	0.4267	M	0.85373	2.75	0.58432	D	0.999998	D	0.67145	0.996	D	0.63381	0.914	T	0.78336	-0.2243	10	0.87932	D	0	.	9.7656	0.40559	0.0:0.2774:0.0:0.7226	.	462	Q9Y5S2	MRCKB_HUMAN	H	462	ENSP00000355237:Q462H	ENSP00000355237:Q462H	Q	-	3	2	CDC42BPB	102511974	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	0.963000	0.29293	0.026000	0.15269	0.528000	0.53228	CAA		0.662	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035	Missense_Mutation	8	128	0	0	0	0.038147	0	8	128				
LRP4	4038	broad.mit.edu	37	11	46889635	46889635	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr11:46889635G>C	ENST00000378623.1	-	34	5224	c.4982C>G	c.(4981-4983)gCt>gGt	p.A1661G	LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1661					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CATGCCAGTAGCCCTAGGAGC	0.537																																						ENST00000378623.1																			0				breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70						c.(4981-4983)gCt>gGt		low density lipoprotein receptor-related protein 4							133.0	111.0	118.0					11																	46889635		2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46889635G>C	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.4982C>G	11.37:g.46889635G>C	ENSP00000367888:p.Ala1661Gly					LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	p.A1661G	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN		Lung(87;0.159)	34	5224	-			1661					B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.4982C>G	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	.	8.565	0.878732	0.17395	.	.	ENSG00000134569	ENST00000378623	D	0.90133	-2.62	5.95	3.12	0.35913	.	0.649424	0.15653	N	0.251294	T	0.78419	0.4280	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.62955	-0.6744	10	0.22706	T	0.39	.	8.8344	0.35104	0.2968:0.0:0.7032:0.0	.	1661	O75096	LRP4_HUMAN	G	1661	ENSP00000367888:A1661G	ENSP00000367888:A1661G	A	-	2	0	LRP4	46846211	0.843000	0.29541	0.975000	0.42487	0.133000	0.20885	1.860000	0.39428	0.433000	0.26313	0.655000	0.94253	GCT		0.537	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		4	85	0	0	0	0.009096	0	4	85				
CCDC180	100499483	broad.mit.edu	37	9	100128910	100128910	+	Missense_Mutation	SNP	G	G	A	rs147885690		TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr9:100128910G>A	ENST00000357054.1	+	43	5019	c.4084G>A	c.(4084-4086)Gcc>Acc	p.A1362T	CCDC180_ENST00000529487.1_Missense_Mutation_p.A1417T|MIR1302-8_ENST00000408342.1_RNA|CCDC180_ENST00000375202.2_Missense_Mutation_p.A1417T|CCDC180_ENST00000395220.1_3'UTR|RP11-23J9.4_ENST00000534123.1_RNA			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1362						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											TGACCAGTGCGCCGAGAACAT	0.532																																						ENST00000375202.2																			0											c.(4249-4251)Gcc>Acc		coiled-coil domain containing 180		G	THR/ALA	0,4406		0,0,2203	106.0	89.0	95.0		4249	4.1	0.1	9	dbSNP_134	95	1,8599	1.2+/-3.3	0,1,4299	no	missense	C9orf174	NM_020893.2	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1417/1702	100128910	1,13005	2203	4300	6503	SO:0001583	missense	100499483							g.chr9:100128910G>A	AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.4084G>A	9.37:g.100128910G>A	ENSP00000349562:p.Ala1362Thr					CCDC180_ENST00000529487.1_Missense_Mutation_p.A1417T|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000357054.1_Missense_Mutation_p.A1362T|CCDC180_ENST00000395220.1_3'UTR	p.A1417T							45	5601	+								Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	ENST00000357054.1	37	c.4249G>A		.	.	.	.	.	.	.	.	.	.	G	14.39	2.520396	0.44866	0.0	1.16E-4	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000529487	T;T;T	0.52983	0.64;0.64;0.64	5.05	4.13	0.48395	.	0.236919	0.29444	N	0.012126	T	0.65015	0.2651	M	0.74258	2.255	0.26693	N	0.971318	D;D	0.76494	0.995;0.999	P;D	0.69142	0.887;0.962	T	0.59632	-0.7418	10	0.72032	D	0.01	-3.7338	10.9204	0.47161	0.0:0.0:0.8122:0.1878	.	1556;1362	B7ZMG3;Q9P1Z9	.;CI174_HUMAN	T	1362;1417;1417	ENSP00000349562:A1362T;ENSP00000364348:A1417T;ENSP00000434727:A1417T	ENSP00000349562:A1362T	A	+	1	0	C9orf174	99168731	0.114000	0.22134	0.082000	0.20525	0.072000	0.16883	1.151000	0.31651	1.212000	0.43366	0.561000	0.74099	GCC		0.532	CCDC180-201	KNOWN	basic	protein_coding	protein_coding		NM_020893		4	46	0	0	0	0.014758	0	4	46				
COL11A1	1301	broad.mit.edu	37	1	103404601	103404601	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr1:103404601T>G	ENST00000370096.3	-	44	3740	c.3428A>C	c.(3427-3429)aAg>aCg	p.K1143T	COL11A1_ENST00000358392.2_Missense_Mutation_p.K1155T|COL11A1_ENST00000353414.4_Missense_Mutation_p.K1104T|COL11A1_ENST00000512756.1_Missense_Mutation_p.K1027T	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1143	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ATTTTCTCCCTTGTCACCCTT	0.338																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(3463-3465)aAg>aCg		collagen, type XI, alpha 1							162.0	161.0	161.0					1																	103404601		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103404601T>G	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.3428A>C	1.37:g.103404601T>G	ENSP00000359114:p.Lys1143Thr					COL11A1_ENST00000512756.1_Missense_Mutation_p.K1027T|COL11A1_ENST00000353414.4_Missense_Mutation_p.K1104T|COL11A1_ENST00000370096.3_Missense_Mutation_p.K1143T	p.K1155T	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	44	3781	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	1143			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.3464A>C	CCDS778.1	.	.	.	.	.	.	.	.	.	.	T	18.16	3.562502	0.65538	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	D;D;D;D	0.93859	-3.23;-3.3;-3.23;-3.23	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.91808	0.7408	N	0.13140	0.3	0.80722	D	1	D;B;D;D;D	0.89917	0.998;0.399;1.0;0.999;0.999	D;P;D;D;D	0.91635	0.987;0.569;0.996;0.991;0.999	D	0.94493	0.7703	10	0.87932	D	0	.	15.5004	0.75695	0.0:0.0:0.0:1.0	.	1027;1104;1155;1143;363	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	T	1143;1155;1104;363;1027	ENSP00000359114:K1143T;ENSP00000351163:K1155T;ENSP00000302551:K1104T;ENSP00000426533:K1027T	ENSP00000302551:K1104T	K	-	2	0	COL11A1	103177189	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.970000	0.88000	2.133000	0.65898	0.482000	0.46254	AAG		0.338	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		4	63	0	0	0	0.014758	0	4	63				
OR10J1	26476	broad.mit.edu	37	1	159409943	159409943	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr1:159409943A>G	ENST00000423932.3	+	1	432	c.395A>G	c.(394-396)gAc>gGc	p.D132G	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	132					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					ATGGGATATGACCGCTATGTG	0.498																																						ENST00000423932.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25						c.(394-396)gAc>gGc		olfactory receptor, family 10, subfamily J, member 1							117.0	105.0	109.0					1																	159409943		2203	4300	6503	SO:0001583	missense	26476				sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr1:159409943A>G	X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184		"""GPCR / Class A : Olfactory receptors"""	8175	protein-coding gene	gene with protein product						1370859	Standard	NM_012351		Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.395A>G	1.37:g.159409943A>G	ENSP00000399078:p.Asp132Gly					RP11-550P17.5_ENST00000431862.1_RNA	p.D132G	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN			1	432	+	all_hematologic(112;0.0429)		132					Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Missense_Mutation	SNP	ENST00000423932.3	37	c.395A>G	CCDS1185.1	.	.	.	.	.	.	.	.	.	.	A	17.25	3.341660	0.61073	.	.	ENSG00000196184	ENST00000423932	T	0.18174	2.23	4.49	4.49	0.54785	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43579	D	0.000550	T	0.43478	0.1249	H	0.95816	3.725	0.41479	D	0.988155	D	0.64830	0.994	D	0.68765	0.96	T	0.59867	-0.7373	10	0.87932	D	0	.	12.0586	0.53550	1.0:0.0:0.0:0.0	.	132	P30954	O10J1_HUMAN	G	132	ENSP00000399078:D132G	ENSP00000399078:D132G	D	+	2	0	OR10J1	157676567	1.000000	0.71417	0.299000	0.25016	0.557000	0.35523	8.919000	0.92770	1.989000	0.58080	0.533000	0.62120	GAC		0.498	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059020.1	NM_012351		3	130	0	0	0	0.004672	0	3	130				
SENP7	57337	broad.mit.edu	37	3	101047392	101047392	+	Splice_Site	SNP	T	T	C			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr3:101047392T>C	ENST00000394095.2	-	22	2849		c.e22-2		SENP7_ENST00000358203.3_Splice_Site|SENP7_ENST00000348610.3_Splice_Site|SENP7_ENST00000314261.7_Splice_Site|SENP7_ENST00000394094.2_Splice_Site|SENP7_ENST00000394085.3_Splice_Site|SENP7_ENST00000394091.1_Splice_Site	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7							intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ATACATGGCCTATGAAAAGCA	0.318																																						ENST00000394095.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.e22-2		SUMO1/sentrin specific peptidase 7							99.0	111.0	107.0					3																	101047392		2203	4290	6493	SO:0001630	splice_region_variant	57337				proteolysis	nucleus	cysteine-type peptidase activity	g.chr3:101047392T>C		CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.2796-2A>G	3.37:g.101047392T>C						SENP7_ENST00000394085.3_Splice_Site|SENP7_ENST00000394091.1_Splice_Site|SENP7_ENST00000348610.3_Splice_Site|SENP7_ENST00000358203.3_Splice_Site|SENP7_ENST00000314261.7_Splice_Site|SENP7_ENST00000394094.2_Splice_Site		NM_020654.3	NP_065705.3	Q9BQF6	SENP7_HUMAN			22	2849	-								A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Splice_Site	SNP	ENST00000394095.2	37		CCDS2941.2	.	.	.	.	.	.	.	.	.	.	T	18.53	3.643546	0.67244	.	.	ENSG00000138468	ENST00000394095;ENST00000394094;ENST00000314261;ENST00000394091;ENST00000358203;ENST00000394085;ENST00000348610	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4665	0.75406	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	SENP7	102530082	1.000000	0.71417	0.972000	0.41901	0.835000	0.47333	6.599000	0.74127	2.056000	0.61249	0.482000	0.46254	.		0.318	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654	Intron	3	173	0	0	0	0.004672	0	3	173				
SOBP	55084	broad.mit.edu	37	6	107824969	107824969	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr6:107824969G>A	ENST00000317357.5	+	2	864	c.205G>A	c.(205-207)Gag>Aag	p.E69K		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		TACAGATGGGGAGAGCCGGCA	0.403																																						ENST00000317357.5																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26						c.(205-207)Gag>Aag		sine oculis binding protein homolog (Drosophila)							127.0	121.0	123.0					6																	107824969		1860	4093	5953	SO:0001583	missense	55084						metal ion binding	g.chr6:107824969G>A	AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.205G>A	6.37:g.107824969G>A	ENSP00000318900:p.Glu69Lys						p.E69K	NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)	2	864	+		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)	69						Missense_Mutation	SNP	ENST00000317357.5	37	c.205G>A	CCDS43488.1	.	.	.	.	.	.	.	.	.	.	G	34	5.350376	0.95830	.	.	ENSG00000112320	ENST00000317357	T	0.11821	2.74	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.20861	0.0502	L	0.34521	1.04	0.80722	D	1	D	0.71674	0.998	D	0.80764	0.994	T	0.01621	-1.1310	10	0.51188	T	0.08	-13.6761	19.4461	0.94847	0.0:0.0:1.0:0.0	.	69	A7XYQ1	SOBP_HUMAN	K	69	ENSP00000318900:E69K	ENSP00000318900:E69K	E	+	1	0	SOBP	107931662	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.596000	0.87737	0.655000	0.94253	GAG		0.403	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	NM_018013		6	94	0	0	0	0.029380	0	6	94				
TCAP	8557	broad.mit.edu	37	17	37821715	37821715	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr17:37821715G>A	ENST00000309889.2	+	1	1276	c.103G>A	c.(103-105)Gag>Aag	p.E35K	PNMT_ENST00000394246.1_5'Flank|PNMT_ENST00000269582.2_5'Flank|TCAP_ENST00000578283.1_Missense_Mutation_p.E35K			O15273	TELT_HUMAN	titin-cap	35					adult heart development (GO:0007512)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of mechanical stimulus (GO:0050982)|detection of muscle stretch (GO:0035995)|muscle filament sliding (GO:0030049)|otic vesicle formation (GO:0030916)|protein complex assembly (GO:0006461)|response to muscle stretch (GO:0035994)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle contraction (GO:0003009)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)	cytosol (GO:0005829)|I band (GO:0031674)|Z disc (GO:0030018)	FATZ binding (GO:0051373)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			kidney(1)|lung(1)	2	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CACACGGCCCGAGGAGGGGTG	0.617																																						ENST00000309889.2																			0				kidney(1)|lung(1)	2						c.(103-105)Gag>Aag		titin-cap							71.0	67.0	68.0					17																	37821715		2203	4300	6503	SO:0001583	missense	8557				adult heart development|cardiac muscle contraction|cardiac muscle fiber development|cardiac muscle tissue morphogenesis|detection of mechanical stimulus|muscle filament sliding|response to stress|sarcomere organization|skeletal muscle contraction|skeletal muscle myosin thick filament assembly|skeletal muscle thin filament assembly	cytosol|Z disc	structural constituent of muscle|titin binding|titin Z domain binding	g.chr17:37821715G>A	AJ000491	CCDS11342.1	17q12	2014-09-17	2012-09-20		ENSG00000173991	ENSG00000173991			11610	protein-coding gene	gene with protein product	"""19 kDa sarcomeric protein"""	604488	"""limb girdle muscular dystrophy 2G (autosomal recessive)"", ""titin-cap (telethonin)"""	LGMD2G		9350988, 9817758	Standard	NM_003673		Approved	T-cap, TELE, telethonin, CMD1N	uc002hsh.3	O15273	OTTHUMG00000133215	ENST00000309889.2:c.103G>A	17.37:g.37821715G>A	ENSP00000312624:p.Glu35Lys					TCAP_ENST00000578283.1_Missense_Mutation_p.E35K	p.E35K			O15273	TELT_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		1	1276	+	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		35					Q96L27	Missense_Mutation	SNP	ENST00000309889.2	37	c.103G>A	CCDS11342.1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.900981	0.33535	.	.	ENSG00000173991	ENST00000309889	D	0.87571	-2.27	5.74	5.74	0.90152	Titin-like domain (1);	0.116476	0.56097	D	0.000025	D	0.87597	0.6217	L	0.29908	0.895	0.54753	D	0.999985	D	0.61697	0.99	P	0.53146	0.719	D	0.88745	0.3246	10	0.72032	D	0.01	-24.8247	19.5082	0.95130	0.0:0.0:1.0:0.0	.	35	O15273	TELT_HUMAN	K	35	ENSP00000312624:E35K	ENSP00000312624:E35K	E	+	1	0	TCAP	35075241	1.000000	0.71417	0.998000	0.56505	0.163000	0.22366	4.234000	0.58658	2.710000	0.92621	0.563000	0.77884	GAG		0.617	TCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256942.1	NM_003673		29	43	0	0	0	0.037714	0	29	43				
LILRA3	11026	broad.mit.edu	37	19	54802486	54802486	+	Missense_Mutation	SNP	T	T	C	rs201608626	byFrequency	TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr19:54802486T>C	ENST00000251390.3	-	5	1046	c.955A>G	c.(955-957)Aca>Gca	p.T319A	LILRA3_ENST00000391745.1_Missense_Mutation_p.T336A|LILRA3_ENST00000391744.3_Missense_Mutation_p.T255A	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	319					defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TCCTCACCTGTGATCAGGATG	0.682													.|||	29	0.00579073	0.0023	0.0101	5008	,	,		9456	0.001		0.003	False		,,,				2504	0.0153					ENST00000391745.1																			0				NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1006-1008)Aca>Gca		leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3		C	ALA/THR,ALA/THR	1,4367		0,1,2183	20.0	24.0	23.0		763,955	-4.4	0.0	19		23	15,8283		1,13,4135	no	missense,missense	LILRA3	NM_001172654.1,NM_006865.3	58,58	1,14,6318	CC,CT,TT		0.1808,0.0229,0.1263	,	255/376,319/440	54802486	16,12650	2184	4149	6333	SO:0001583	missense	0							g.chr19:54802486T>C	U91926		19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.955A>G	19.37:g.54802486T>C	ENSP00000251390:p.Thr319Ala					LILRA3_ENST00000391744.3_Missense_Mutation_p.T255A|LILRA3_ENST00000251390.3_Missense_Mutation_p.T319A	p.T336A						GBM - Glioblastoma multiforme(193;0.105)	9	1322	-	Ovarian(34;0.19)							J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Missense_Mutation	SNP	ENST00000251390.3	37	c.1006A>G	CCDS12887.1	.	.	.	.	.	.	.	.	.	.	t	0.001	-3.919994	0.00003	2.29E-4	0.001808	ENSG00000170866	ENST00000251390;ENST00000391744;ENST00000391745	T;T;T	0.00922	5.54;5.54;5.54	2.21	-4.42	0.03579	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.887861	0.09198	N	0.835101	T	0.00524	0.0017	N	0.16903	0.455	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.54234	-0.8324	10	0.02654	T	1	.	0.3639	0.00368	0.2103:0.2608:0.1967:0.3321	.	319;319	E7EU74;Q8N6C8	.;LIRA3_HUMAN	A	319;255;336	ENSP00000251390:T319A;ENSP00000375624:T255A;ENSP00000375625:T336A	ENSP00000251390:T319A	T	-	1	0	LILRA3	59494298	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-8.002000	0.00026	-6.916000	0.00002	-4.991000	0.00002	ACA		0.682	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140236.1			3	45	0	0	0	0.014758	0	3	45				
ROBO1	6091	broad.mit.edu	37	3	78667056	78667056	+	Silent	SNP	C	C	T			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr3:78667056C>T	ENST00000464233.1	-	27	4124	c.4011G>A	c.(4009-4011)gaG>gaA	p.E1337E	ROBO1_ENST00000467549.1_Silent_p.E1237E|ROBO1_ENST00000495273.1_Silent_p.E1292E|ROBO1_ENST00000436010.2_Silent_p.E1298E	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1337					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TCTTGGCTACCTCCATGTCGG	0.547																																						ENST00000436010.2																			0				breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44						c.(3892-3894)gaG>gaA		roundabout, axon guidance receptor, homolog 1 (Drosophila)							86.0	94.0	91.0					3																	78667056		2027	4180	6207	SO:0001819	synonymous_variant	6091				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	g.chr3:78667056C>T	AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.4011G>A	3.37:g.78667056C>T						ROBO1_ENST00000464233.1_Silent_p.E1337E|ROBO1_ENST00000495273.1_Silent_p.E1292E|ROBO1_ENST00000467549.1_Silent_p.E1237E	p.E1298E			Q9Y6N7	ROBO1_HUMAN		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)	25	4891	-		Lung SC(41;0.0257)|Lung NSC(201;0.0439)	1337					B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Silent	SNP	ENST00000464233.1	37	c.3894G>A	CCDS54611.1																																																																																				0.547	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352610.1	NM_002941		41	45	0	0	0	0.042209	0	41	45				
SLC50A1	55974	broad.mit.edu	37	1	155110477	155110477	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr1:155110477C>T	ENST00000368404.4	+	5	529	c.467C>T	c.(466-468)tCa>tTa	p.S156L	SLC50A1_ENST00000484157.1_Missense_Mutation_p.S91L|SLC50A1_ENST00000368401.5_Missense_Mutation_p.S101L|SLC50A1_ENST00000368405.3_3'UTR|SLC50A1_ENST00000303343.8_Missense_Mutation_p.S102L	NM_018845.3	NP_061333.2	Q9BRV3	SWET1_HUMAN	solute carrier family 50 (sugar efflux transporter), member 1	156	Mediates interaction with TRPV2. {ECO:0000250}.|MtN3/slv 2.				carbohydrate transport (GO:0008643)|DNA recombination (GO:0006310)|glucoside transport (GO:0042946)|positive regulation of gene expression, epigenetic (GO:0045815)	endomembrane system (GO:0012505)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucoside transmembrane transporter activity (GO:0042947)			endometrium(1)|lung(1)|ovary(1)|skin(1)	4						CAAACTAAATCAACCCAATGT	0.463																																						ENST00000368404.4																			0				endometrium(1)|lung(1)|ovary(1)|skin(1)	4						c.(466-468)tCa>tTa		solute carrier family 50 (sugar efflux transporter), member 1							217.0	188.0	198.0					1																	155110477		2203	4300	6503	SO:0001583	missense	55974				positive regulation of gene expression, epigenetic	Golgi membrane|integral to membrane|plasma membrane	glucoside transmembrane transporter activity	g.chr1:155110477C>T	AF126023, AF126024	CCDS1093.1, CCDS44238.1, CCDS44239.1, CCDS72929.1, CCDS72930.1	1q22	2013-07-17	2013-07-17	2010-11-30	ENSG00000169241	ENSG00000169241		"""Solute carriers"""	30657	protein-coding gene	gene with protein product	"""stromal cell protein"""	613683	"""recombination activating gene 1 activating protein 1"""	RAG1AP1		21107422	Standard	NM_018845		Approved	SCP, RP11-540D14.5, slv, RZPDo834D038D, HsSWEET1, SWEET1	uc001fhj.4	Q9BRV3	OTTHUMG00000035333	ENST00000368404.4:c.467C>T	1.37:g.155110477C>T	ENSP00000357389:p.Ser156Leu					SLC50A1_ENST00000368405.3_3'UTR|SLC50A1_ENST00000303343.8_Missense_Mutation_p.S102L|SLC50A1_ENST00000484157.1_Missense_Mutation_p.S91L|SLC50A1_ENST00000368401.5_Missense_Mutation_p.S101L	p.S156L	NM_018845.3	NP_061333.2	Q9BRV3	SWET1_HUMAN			5	529	+			156			Mediates interaction with TRPV2 (By similarity).|MtN3/slv 2.		Q5SR64|Q6IAK6|Q96DC5|Q9UHQ2|Q9UHQ3	Missense_Mutation	SNP	ENST00000368404.4	37	c.467C>T	CCDS1093.1	.	.	.	.	.	.	.	.	.	.	C	14.92	2.680692	0.47886	.	.	ENSG00000169241	ENST00000484157;ENST00000303343;ENST00000368404;ENST00000368401	.	.	.	4.97	4.97	0.65823	.	0.258920	0.38111	N	0.001806	D	0.84520	0.5490	H	0.96080	3.765	0.42650	D	0.993449	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.79108	0.988;0.986;0.992	D	0.85501	0.1191	9	0.31617	T	0.26	-5.0281	16.1085	0.81241	0.0:1.0:0.0:0.0	.	102;101;156	Q9BRV3-3;Q9BRV3-2;Q9BRV3	.;.;SWET1_HUMAN	L	91;102;156;101	.	ENSP00000306146:S102L	S	+	2	0	SLC50A1	153377101	0.996000	0.38824	0.602000	0.28890	0.034000	0.12701	3.611000	0.54132	2.749000	0.94314	0.655000	0.94253	TCA		0.463	SLC50A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085505.1	NM_018845		56	62	0	0	0	0.048971	0	56	62				
TNXB	7148	broad.mit.edu	37	6	32053654	32053654	+	Silent	SNP	C	C	A			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr6:32053654C>A	ENST00000375244.3	-	7	3222	c.3021G>T	c.(3019-3021)gtG>gtT	p.V1007V	TNXB_ENST00000375247.2_Silent_p.V1007V			P22105	TENX_HUMAN	tenascin XB	1094	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCCCTGGCAGCACTTCCTCAT	0.682																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(3019-3021)gtG>gtT		tenascin XB							56.0	66.0	62.0					6																	32053654		1299	2563	3862	SO:0001819	synonymous_variant	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32053654C>A	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.3021G>T	6.37:g.32053654C>A						TNXB_ENST00000375247.2_Silent_p.V1007V	p.V1007V			P22105	TENX_HUMAN			7	3222	-			1094			Fibronectin type-III 2.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	ENST00000375244.3	37	c.3021G>T																																																																																					0.682	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		5	109	1	0	0.000602214	0.014758	0.000788353	5	109				
MFI2	4241	broad.mit.edu	37	3	196744089	196744089	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr3:196744089C>T	ENST00000296350.5	-	7	898	c.785G>A	c.(784-786)cGg>cAg	p.R262Q		NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	262	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		GACATCGGCCCGGCTACCATC	0.687																																						ENST00000296350.5																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20						c.(784-786)cGg>cAg		antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5							19.0	19.0	19.0					3																	196744089		2200	4297	6497	SO:0001583	missense	4241				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding	g.chr3:196744089C>T		CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"""CD molecules"""	7037	protein-coding gene	gene with protein product	"""melanotransferrin"", ""membrane-bound transferrin-like protein"""	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.785G>A	3.37:g.196744089C>T	ENSP00000296350:p.Arg262Gln						p.R262Q	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)	7	898	-	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		262			Transferrin-like 1.		Q9BQE2	Missense_Mutation	SNP	ENST00000296350.5	37	c.785G>A	CCDS3325.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270468	0.59540	.	.	ENSG00000163975	ENST00000296350	T	0.40225	1.04	5.69	5.69	0.88448	.	0.250946	0.40144	N	0.001170	T	0.61961	0.2389	M	0.87038	2.855	0.80722	D	1	D	0.62365	0.991	P	0.58928	0.848	T	0.66488	-0.5911	10	0.52906	T	0.07	-34.0105	9.4765	0.38875	0.0:0.7795:0.1445:0.076	.	262	P08582	TRFM_HUMAN	Q	262	ENSP00000296350:R262Q	ENSP00000296350:R262Q	R	-	2	0	MFI2	198228486	0.896000	0.30565	0.991000	0.47740	0.451000	0.32288	2.051000	0.41307	2.687000	0.91594	0.462000	0.41574	CGG		0.687	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340458.1			10	14	0	0	0	0.058154	0	10	14				
TMPRSS11D	9407	broad.mit.edu	37	4	68719844	68719844	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr4:68719844T>G	ENST00000283916.6	-	3	289	c.191A>C	c.(190-192)cAg>cCg	p.Q64P	TMPRSS11D_ENST00000509584.1_5'UTR|UBA6-AS1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000545541.1_5'UTR	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	64	SEA. {ECO:0000255|PROSITE- ProRule:PRU00188}.				proteolysis (GO:0006508)|respiratory gaseous exchange (GO:0007585)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						TGAATTTAACTGACTATTATA	0.303																																						ENST00000283916.6																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(190-192)cAg>cCg		transmembrane protease, serine 11D							74.0	81.0	79.0					4																	68719844		2203	4297	6500	SO:0001583	missense	9407				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:68719844T>G	AB002134	CCDS3518.1	4q13.2	2010-04-13			ENSG00000153802	ENSG00000153802		"""Serine peptidases / Transmembrane"""	24059	protein-coding gene	gene with protein product	"""airway trypsin like protease"""	605369				9565616, 9070615	Standard	XM_005265710		Approved		uc003hdq.3	O60235	OTTHUMG00000129300	ENST00000283916.6:c.191A>C	4.37:g.68719844T>G	ENSP00000283916:p.Gln64Pro					RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000509584.1_5'UTR|TMPRSS11D_ENST00000545541.1_5'UTR	p.Q64P	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN			3	289	-			64			SEA.		Q08AF6	Missense_Mutation	SNP	ENST00000283916.6	37	c.191A>C	CCDS3518.1	.	.	.	.	.	.	.	.	.	.	T	14.59	2.580134	0.46006	.	.	ENSG00000153802	ENST00000283916	T	0.32988	1.43	5.3	4.1	0.47936	SEA (3);	0.861997	0.09852	N	0.747406	T	0.37073	0.0990	L	0.54323	1.7	0.20403	N	0.999905	P	0.47191	0.891	P	0.48368	0.575	T	0.13282	-1.0515	10	0.41790	T	0.15	.	8.9549	0.35812	0.0:0.0:0.1967:0.8033	.	64	O60235	TM11D_HUMAN	P	64	ENSP00000283916:Q64P	ENSP00000283916:Q64P	Q	-	2	0	TMPRSS11D	68402439	0.010000	0.17322	0.001000	0.08648	0.086000	0.17979	2.099000	0.41767	1.013000	0.39391	0.460000	0.39030	CAG		0.303	TMPRSS11D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251430.3	NM_004262		6	79	0	0	0	0.021553	0	6	79				
OTOA	146183	broad.mit.edu	37	16	21726417	21726417	+	Missense_Mutation	SNP	G	G	A	rs572283930		TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr16:21726417G>A	ENST00000286149.4	+	13	1475	c.1474G>A	c.(1474-1476)Gtc>Atc	p.V492I	OTOA_ENST00000388956.4_Missense_Mutation_p.V399I|OTOA_ENST00000388957.3_Missense_Mutation_p.V154I|OTOA_ENST00000388958.3_Missense_Mutation_p.V478I			Q7RTW8	OTOAN_HUMAN	otoancorin	492					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)		p.V478I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GAGAAGTGCCGTCTCCCAGTA	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		22005	0.0		0.0	False		,,,				2504	0.001					ENST00000388958.3																			1	Substitution - Missense(1)	p.V478I(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46						c.(1432-1434)Gtc>Atc		otoancorin							232.0	210.0	217.0					16																	21726417		2199	4300	6499	SO:0001583	missense	146183				sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		g.chr16:21726417G>A	AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.1474G>A	16.37:g.21726417G>A	ENSP00000286149:p.Val492Ile					OTOA_ENST00000388956.4_Missense_Mutation_p.V399I|OTOA_ENST00000388957.3_Missense_Mutation_p.V154I|OTOA_ENST00000286149.4_Missense_Mutation_p.V492I	p.V478I	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN		GBM - Glioblastoma multiforme(48;0.0414)	13	1433	+			492					A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	ENST00000286149.4	37	c.1432G>A		.	.	.	.	.	.	.	.	.	.	G	0.298	-0.975420	0.02215	.	.	ENSG00000155719	ENST00000388958;ENST00000286149;ENST00000388956;ENST00000388957	T;T;T;T	0.78816	-1.21;-1.21;-1.21;-1.21	5.66	-11.0	0.00169	.	1.733600	0.03195	N	0.173902	T	0.41373	0.1156	N	0.00538	-1.39	0.09310	N	1	B;B;B;B	0.14012	0.007;0.007;0.009;0.004	B;B;B;B	0.06405	0.002;0.002;0.002;0.002	T	0.44651	-0.9314	10	0.21540	T	0.41	0.534	11.4065	0.49900	0.5645:0.3473:0.0881:0.0	.	492;399;154;478	Q7RTW8;B3KWU3;Q7RTW8-2;E9PF51	OTOAN_HUMAN;.;.;.	I	478;492;399;154	ENSP00000373610:V478I;ENSP00000286149:V492I;ENSP00000373608:V399I;ENSP00000373609:V154I	ENSP00000286149:V492I	V	+	1	0	OTOA	21633918	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.881000	0.01626	-1.967000	0.01008	-1.822000	0.00598	GTC		0.577	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1			18	252	0	0	0	0.055883	0	18	252				
ATG14	22863	broad.mit.edu	37	14	55848836	55848836	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr14:55848836G>A	ENST00000247178.5	-	6	756	c.721C>T	c.(721-723)Cgg>Tgg	p.R241W		NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN	autophagy related 14	241					autophagic vacuole assembly (GO:0000045)|endosome to lysosome transport (GO:0008333)|positive regulation of autophagy (GO:0010508)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|pre-autophagosomal structure membrane (GO:0034045)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						GTTGTCCTCCGGGCTTCAGCA	0.527																																						ENST00000247178.5																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						c.(721-723)Cgg>Tgg		autophagy related 14							159.0	137.0	145.0					14																	55848836		2203	4300	6503	SO:0001583	missense	22863				autophagic vacuole assembly|positive regulation of autophagy	autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane	protein binding	g.chr14:55848836G>A	AB020638	CCDS32087.1	14q22.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000126775	ENSG00000126775			19962	protein-coding gene	gene with protein product	"""Barkor"", ""beclin 1-associated autophagy-related key regulator"""	613515	"""KIAA0831"", ""ATG14 autophagy related 14 homolog (S. cerevisiae)"""	KIAA0831		18843052	Standard	NM_014924		Approved	ATG14L	uc001xbx.2	Q6ZNE5	OTTHUMG00000172129	ENST00000247178.5:c.721C>T	14.37:g.55848836G>A	ENSP00000247178:p.Arg241Trp						p.R241W	NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN			6	756	-			241					A6NJE4|A8K9U5|B7ZWP5|O94920|Q32MK7|Q32MK8	Missense_Mutation	SNP	ENST00000247178.5	37	c.721C>T	CCDS32087.1	.	.	.	.	.	.	.	.	.	.	g	15.85	2.956329	0.53293	.	.	ENSG00000126775	ENST00000247178	T	0.35048	1.33	5.63	2.38	0.29361	.	0.000000	0.85682	D	0.000000	T	0.33381	0.0861	L	0.46157	1.445	0.58432	D	0.999999	P	0.42556	0.783	B	0.38296	0.27	T	0.41627	-0.9498	10	0.87932	D	0	-18.3862	16.6348	0.85043	0.0:0.0:0.535:0.465	.	241	Q6ZNE5	BAKOR_HUMAN	W	241	ENSP00000247178:R241W	ENSP00000247178:R241W	R	-	1	2	ATG14	54918589	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	1.811000	0.38942	0.694000	0.31654	0.650000	0.86243	CGG		0.527	ATG14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416992.1	NM_014924		56	62	0	0	0	0.048971	0	56	62				
TUBB8P7	197331	broad.mit.edu	37	16	90161902	90161902	+	RNA	SNP	A	A	G	rs6500471	byFrequency	TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr16:90161902A>G	ENST00000564451.1	+	0	1255				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.K213R(8)									ATATGTTCCAAGACCCTAAAA	0.537													.|||	3135	0.625998	0.9327	0.5014	5008	,	,		11498	0.7867		0.4702	False		,,,				2504	0.2945					ENST00000564451.1																			8	Substitution - Missense(8)	p.K213R(8)	kidney(4)|prostate(3)|urinary_tract(1)																																																0							g.chr16:90161902A>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161902A>G						TUBB8P7_ENST00000567960.1_RNA								0	1255	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		3	51	0	0	0	0.009096	0	3	51				
INTS1	26173	broad.mit.edu	37	7	1542704	1542704	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr7:1542704G>A	ENST00000404767.3	-	3	267	c.182C>T	c.(181-183)gCg>gTg	p.A61V	INTS1_ENST00000389470.4_Missense_Mutation_p.A189V|INTS1_ENST00000493531.1_5'Flank	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	61	Poly-Ala.				inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CGCGGCCGCCGCATCCCGCTT	0.657																																						ENST00000389470.4																			0				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62						c.(565-567)gCg>gTg		integrator complex subunit 1							55.0	68.0	64.0					7																	1542704		2021	4166	6187	SO:0001583	missense	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1542704G>A	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.182C>T	7.37:g.1542704G>A	ENSP00000385722:p.Ala61Val					INTS1_ENST00000404767.3_Missense_Mutation_p.A61V	p.A189V			Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	4	565	-		Ovarian(82;0.0253)	61					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	c.566C>T	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.184869	0.57909	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.47869	0.83;0.83	4.61	3.72	0.42706	.	0.137694	0.49916	D	0.000129	T	0.43897	0.1268	L	0.61218	1.895	0.45354	D	0.998342	P;P	0.43750	0.816;0.816	B;B	0.36766	0.232;0.116	T	0.52660	-0.8546	10	0.72032	D	0.01	.	13.7251	0.62754	0.0:0.156:0.844:0.0	.	189;61	A4D212;Q8N201	.;INT1_HUMAN	V	61;189	ENSP00000385722:A61V;ENSP00000374121:A189V	ENSP00000374121:A189V	A	-	2	0	INTS1	1509230	1.000000	0.71417	0.767000	0.31495	0.393000	0.30537	5.086000	0.64474	1.134000	0.42165	0.563000	0.77884	GCG		0.657	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			5	110	0	0	0	0.014758	0	5	110				
KIR3DX1	90011	broad.mit.edu	37	19	55046936	55046936	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr19:55046936C>A	ENST00000335056.3	+	4	519	c.481C>A	c.(481-483)Cat>Aat	p.H161N	KIR3DX1_ENST00000482404.1_3'UTR			Q9H7L2	KI3X1_HUMAN	killer cell immunoglobulin-like receptor, three domains, X1	161						extracellular region (GO:0005576)				endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24				GBM - Glioblastoma multiforme(193;0.099)		GCACATACAGCATTCCCAGCA	0.557																																					Colon(183;529 2002 28270 32358 35845)|Esophageal Squamous(50;443 1006 2278 10294 37938)	ENST00000335056.3																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1)	24						c.(481-483)Cat>Aat									67.0	69.0	68.0					19																	55046936		2052	4214	6266	SO:0001583	missense	0							g.chr19:55046936C>A	BC033195		19q13.42	2013-03-26	2006-09-12	2006-09-12	ENSG00000104970	ENSG00000104970		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	25043	other	unknown			"""leukocyte receptor cluster (LRC) member 12"""	LENG12		11441184	Standard	NR_026716		Approved	FLJ00060	uc010erm.2	Q9H7L2	OTTHUMG00000065696	ENST00000335056.3:c.481C>A	19.37:g.55046936C>A	ENSP00000335388:p.His161Asn					KIR3DX1_ENST00000482404.1_3'UTR	p.H161N						GBM - Glioblastoma multiforme(193;0.099)	4	519	+								B7WNL0|Q8N0S4	Missense_Mutation	SNP	ENST00000335056.3	37	c.481C>A		.	.	.	.	.	.	.	.	.	.	C	2.463	-0.323685	0.05350	.	.	ENSG00000104970	ENST00000335056	T	0.00705	5.81	1.64	-3.28	0.05033	.	.	.	.	.	T	0.00906	0.0030	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.40979	-0.9534	6	0.87932	D	0	.	3.4741	0.07578	0.0:0.2762:0.2189:0.5049	.	.	.	.	N	161	ENSP00000335388:H161N	ENSP00000221567:H161N	H	+	1	0	KIR3DX1	59738748	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.139000	0.01302	-1.088000	0.03077	-0.826000	0.03091	CAT		0.557	KIR3DX1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000140800.2	NR_026716		20	44	1	0	4.96729e-08	0.049695	6.62305e-08	20	44				
SPOP	8405	broad.mit.edu	37	17	47696432	47696432	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr17:47696432A>C	ENST00000393328.2	-	6	756	c.391T>G	c.(391-393)Tgg>Ggg	p.W131G	SPOP_ENST00000393331.3_Missense_Mutation_p.W131G|SPOP_ENST00000347630.2_Missense_Mutation_p.W131G|SPOP_ENST00000503676.1_Missense_Mutation_p.W131G|SPOP_ENST00000504102.1_Missense_Mutation_p.W131G|SPOP_ENST00000513080.1_5'Flank	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	131	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.W131G(2)|p.W131R(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TTGAATCCCCAGTCTTTGCCT	0.458										Prostate(2;0.17)																												ENST00000393331.3																			3	Substitution - Missense(3)	p.W131G(2)|p.W131R(1)	prostate(3)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(391-393)Tgg>Ggg		speckle-type POZ protein							121.0	124.0	123.0					17																	47696432		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696432A>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.391T>G	17.37:g.47696432A>C	ENSP00000377001:p.Trp131Gly	Prostate(2;0.17)				SPOP_ENST00000503676.1_Missense_Mutation_p.W131G|SPOP_ENST00000504102.1_Missense_Mutation_p.W131G|SPOP_ENST00000393328.2_Missense_Mutation_p.W131G|SPOP_ENST00000347630.2_Missense_Mutation_p.W131G	p.W131G	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	861	-			131			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.391T>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.058244	0.76074	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.81851	0.4910	H	0.95402	3.665	0.80722	D	1	P	0.43024	0.798	P	0.47786	0.557	D	0.87031	0.2135	10	0.72032	D	0.01	0.1404	15.258	0.73599	1.0:0.0:0.0:0.0	.	131	O43791	SPOP_HUMAN	G	131;131;131;131;15;131;84;131;131;131;131	ENSP00000377001:W131G;ENSP00000377004:W131G;ENSP00000240327:W131G;ENSP00000425905:W131G;ENSP00000420908:W131G;ENSP00000426986:W131G;ENSP00000420960:W131G;ENSP00000426262:W131G;ENSP00000424119:W131G	ENSP00000240327:W131G	W	-	1	0	SPOP	45051431	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.056000	0.93881	2.261000	0.74972	0.460000	0.39030	TGG		0.458	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		79	106	0	0	0	0.048971	0	79	106				
GLI1	2735	broad.mit.edu	37	12	57864192	57864192	+	Missense_Mutation	SNP	C	C	T	rs201845227	byFrequency	TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr12:57864192C>T	ENST00000228682.2	+	12	1760	c.1669C>T	c.(1669-1671)Cgc>Tgc	p.R557C	GLI1_ENST00000543426.1_Missense_Mutation_p.R429C|GLI1_ENST00000546141.1_Missense_Mutation_p.R516C	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	557					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TACTGTCAGCCGCCGCTCCTC	0.647													C|||	3	0.000599042	0.0	0.0	5008	,	,		17880	0.003		0.0	False		,,,				2504	0.0				Pancreas(157;841 1936 10503 41495 50368)	ENST00000228682.2																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1669-1671)Cgc>Tgc		GLI family zinc finger 1																																				SO:0001583	missense	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57864192C>T		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.1669C>T	12.37:g.57864192C>T	ENSP00000228682:p.Arg557Cys					GLI1_ENST00000543426.1_Missense_Mutation_p.R429C|GLI1_ENST00000546141.1_Missense_Mutation_p.R516C	p.R557C	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		12	1760	+			557					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Missense_Mutation	SNP	ENST00000228682.2	37	c.1669C>T	CCDS8940.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	19.74	3.884584	0.72410	.	.	ENSG00000111087	ENST00000543426;ENST00000228682;ENST00000546141;ENST00000528467	T;T;T;T	0.26518	1.85;1.73;1.87;1.87	3.95	3.95	0.45737	.	0.141517	0.33327	N	0.005028	T	0.48822	0.1521	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.66979	0.948	T	0.54820	-0.8236	10	0.87932	D	0	.	15.9719	0.80027	0.0:1.0:0.0:0.0	.	557	P08151	GLI1_HUMAN	C	429;557;516;516	ENSP00000437607:R429C;ENSP00000228682:R557C;ENSP00000441006:R516C;ENSP00000434408:R516C	ENSP00000228682:R557C	R	+	1	0	GLI1	56150459	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.475000	0.66787	2.483000	0.83821	0.561000	0.74099	CGC		0.647	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		43	74	0	0	0	0.045515	0	43	74				
TBC1D14	57533	broad.mit.edu	37	4	6995922	6995922	+	Silent	SNP	C	C	T			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr4:6995922C>T	ENST00000409757.4	+	4	979	c.855C>T	c.(853-855)gaC>gaT	p.D285D	RN7SKP292_ENST00000365522.1_RNA|TBC1D14_ENST00000448507.1_Silent_p.D285D|TBC1D14_ENST00000451522.2_Silent_p.D5D|TBC1D14_ENST00000410031.1_Silent_p.D57D|AC097382.5_ENST00000441093.1_RNA	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	285					negative regulation of autophagy (GO:0010507)|recycling endosome to Golgi transport (GO:0071955)|regulation of autophagic vacuole assembly (GO:2000785)	autophagic vacuole (GO:0005776)|Golgi apparatus (GO:0005794)|recycling endosome (GO:0055037)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						aatatgaagacaaggctggaa	0.458																																						ENST00000409757.4																			0				breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						c.(853-855)gaC>gaT		TBC1 domain family, member 14							127.0	117.0	121.0					4																	6995922		2203	4300	6503	SO:0001819	synonymous_variant	57533					intracellular	Rab GTPase activator activity	g.chr4:6995922C>T	AL833868	CCDS3394.2, CCDS47006.1, CCDS75104.1	4p16.1	2008-01-22			ENSG00000132405	ENSG00000132405			29246	protein-coding gene	gene with protein product		614855				10718198	Standard	NM_020773		Approved	KIAA1322	uc003gjs.4	Q9P2M4	OTTHUMG00000090493	ENST00000409757.4:c.855C>T	4.37:g.6995922C>T						TBC1D14_ENST00000451522.2_Silent_p.D5D|TBC1D14_ENST00000448507.1_Silent_p.D285D|TBC1D14_ENST00000410031.1_Silent_p.D57D	p.D285D	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN			4	979	+			285					B9A6L5|D3DVT4|E9PAZ6|Q8IW15|Q8NDK3	Silent	SNP	ENST00000409757.4	37	c.855C>T	CCDS3394.2																																																																																				0.458	TBC1D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206981.3	NM_020773		8	94	0	0	0	0.038147	0	8	94				
RP9	6100	broad.mit.edu	37	7	33138944	33138944	+	Silent	SNP	C	C	T			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr7:33138944C>T	ENST00000297157.3	-	3	305	c.288G>A	c.(286-288)ctG>ctA	p.L96L		NM_203288.1	NP_976033.1	Q8TA86	RP9_HUMAN	retinitis pigmentosa 9 (autosomal dominant)	96	PIM1-binding. {ECO:0000250}.				cognition (GO:0050890)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|signal recognition particle receptor complex (GO:0005785)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|urinary_tract(1)	7			GBM - Glioblastoma multiforme(11;0.0403)			CTTCTTTCCCCAGTGGCATCC	0.428																																						ENST00000297157.3																			0				large_intestine(3)|lung(3)|urinary_tract(1)	7						c.(286-288)ctG>ctA		retinitis pigmentosa 9 (autosomal dominant)							166.0	146.0	153.0					7																	33138944		2203	4300	6503	SO:0001819	synonymous_variant	6100				RNA splicing	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr7:33138944C>T	AX016710	CCDS5440.1	7p14.3	2014-01-28			ENSG00000164610	ENSG00000164610			10288	protein-coding gene	gene with protein product	"""Pim-1 kinase associated protein"""	607331				8513323	Standard	NM_203288		Approved	PAP-1	uc003tdm.3	Q8TA86	OTTHUMG00000152988	ENST00000297157.3:c.288G>A	7.37:g.33138944C>T							p.L96L	NM_203288.1	NP_976033.1	Q8TA86	RP9_HUMAN	GBM - Glioblastoma multiforme(11;0.0403)		3	305	-			96			PIM1-binding (By similarity).			Silent	SNP	ENST00000297157.3	37	c.288G>A	CCDS5440.1																																																																																				0.428	RP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328914.1	NM_203288		4	151	0	0	0	0.014758	0	4	151				
TGFA	7039	broad.mit.edu	37	2	70680366	70680366	+	Silent	SNP	G	G	A	rs199594512		TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr2:70680366G>A	ENST00000295400.6	-	5	706	c.459C>T	c.(457-459)tgC>tgT	p.C153C	TGFA_ENST00000418333.2_Silent_p.C152C|AC017084.1_ENST00000401177.2_RNA|TGFA_ENST00000444975.1_Silent_p.C159C|TGFA_ENST00000450929.1_Silent_p.C158C|TGFA_ENST00000445399.1_Silent_p.C152C	NM_001099691.2|NM_003236.3	NP_001093161.1|NP_003227.1	P01135	TGFA_HUMAN	transforming growth factor, alpha	153					activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|cell proliferation (GO:0008283)|epidermal growth factor receptor signaling pathway (GO:0007173)|mammary gland alveolus development (GO:0060749)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell division (GO:0051781)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mitosis (GO:0045840)|response to drug (GO:0042493)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|MAP kinase kinase activity (GO:0004708)			haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	4						CTGAGTGGCAGCAAGCGGTTC	0.577																																						ENST00000295400.6																			0				haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	4						c.(457-459)tgC>tgT		transforming growth factor, alpha							85.0	93.0	90.0					2																	70680366		2203	4300	6503	SO:0001819	synonymous_variant	7039				activation of MAPK activity|cell proliferation|positive regulation of cell division|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis	cell surface|extracellular space|integral to membrane|plasma membrane	epidermal growth factor receptor binding|growth factor activity|MAP kinase kinase activity|signal transducer activity	g.chr2:70680366G>A		CCDS1905.1, CCDS46316.1	2p13	2012-10-02			ENSG00000163235	ENSG00000163235			11765	protein-coding gene	gene with protein product		190170				3459638, 10552925	Standard	NM_003236		Approved		uc002sgs.4	P01135	OTTHUMG00000129669	ENST00000295400.6:c.459C>T	2.37:g.70680366G>A						TGFA_ENST00000445399.1_Silent_p.C152C|TGFA_ENST00000444975.1_Silent_p.C159C|TGFA_ENST00000450929.1_Silent_p.C158C|TGFA_ENST00000418333.2_Silent_p.C152C	p.C153C	NM_001099691.2|NM_003236.3	NP_001093161.1|NP_003227.1	P01135	TGFA_HUMAN			5	706	-			153					A8K286|Q15577|Q53SK7|Q9BS56|Q9UEI3|Q9UKM1|Q9UKM2|Q9UKM3	Silent	SNP	ENST00000295400.6	37	c.459C>T	CCDS1905.1	.	.	.	.	.	.	.	.	.	.	G	9.701	1.154553	0.21371	.	.	ENSG00000163235	ENST00000419940	.	.	.	5.87	4.98	0.66077	.	.	.	.	.	T	0.65333	0.2681	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61357	-0.7079	4	.	.	.	.	13.5801	0.61898	0.0791:0.0:0.9209:0.0	.	.	.	.	V	121	.	.	A	-	2	0	TGFA	70533874	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.104000	0.41815	2.941000	0.99782	0.655000	0.94253	GCT		0.577	TGFA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251870.2			4	171	0	0	0	0.014758	0	4	171				
APBA1	320	broad.mit.edu	37	9	72131395	72131395	+	Silent	SNP	G	G	A	rs201766437		TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr9:72131395G>A	ENST00000265381.4	-	2	954	c.732C>T	c.(730-732)ggC>ggT	p.G244G		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	244	Munc-18-1 binding.				axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TGTCGGACTCGCCGTCGGAGC	0.701																																						ENST00000265381.4																			0				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						c.(730-732)ggC>ggT		amyloid beta (A4) precursor protein-binding, family A, member 1							26.0	22.0	23.0					9																	72131395		2203	4299	6502	SO:0001819	synonymous_variant	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72131395G>A	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.732C>T	9.37:g.72131395G>A							p.G244G	NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN			2	954	-			244			Munc-18-1 binding.		O14914|O60570|Q5VYR8	Silent	SNP	ENST00000265381.4	37	c.732C>T	CCDS6630.1																																																																																				0.701	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163		24	23	0	0	0	0.099896	0	24	23				
KIN	22944	broad.mit.edu	37	10	7808017	7808017	+	Splice_Site	SNP	G	G	T			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr10:7808017G>T	ENST00000379562.4	-	9	895	c.848C>A	c.(847-849)cCt>cAt	p.P283H	KIN_ENST00000535925.1_Splice_Site_p.P283H|KIN_ENST00000463666.1_5'UTR|KIN_ENST00000543003.1_Splice_Site_p.P177H	NM_012311.3	NP_036443.1			Kin17 DNA and RNA binding protein											endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						AATACTTACAGGCTGTAGCCA	0.328																																						ENST00000379562.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						c.e9+1		KIN, antigenic determinant of recA protein homolog (mouse)							89.0	84.0	86.0					10																	7808017		2203	4298	6501	SO:0001630	splice_region_variant	22944				DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding	g.chr10:7808017G>T	AJ005273	CCDS7080.1	10p15-p14	2014-07-15	2014-07-15		ENSG00000151657	ENSG00000151657			6327	protein-coding gene	gene with protein product		601720	"""antigenic determinant of recA protein (mouse) homolog"", ""KIN, antigenic determinant of recA protein homolog (mouse)"""			1923796, 24140279	Standard	NM_012311		Approved	KIN17, Rts2	uc001ijt.3	O60870	OTTHUMG00000017634	ENST00000379562.4:c.849+1C>A	10.37:g.7808017G>T						KIN_ENST00000463666.1_5'UTR|KIN_ENST00000535925.1_Splice_Site_p.P283_splice|KIN_ENST00000543003.1_Splice_Site_p.P177_splice	p.P283_splice			O60870	KIN17_HUMAN			9	895	-			283						Splice_Site	SNP	ENST00000379562.4	37	c.849_splice	CCDS7080.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.047121	0.75846	.	.	ENSG00000151657	ENST00000535925;ENST00000379562;ENST00000543003	.	.	.	6.06	6.06	0.98353	.	0.105878	0.64402	D	0.000003	T	0.77665	0.4164	M	0.68317	2.08	0.80722	D	1	D;D;D	0.89917	1.0;0.994;0.994	D;P;P	0.65573	0.936;0.712;0.712	T	0.77542	-0.2549	9	0.62326	D	0.03	-25.961	18.3939	0.90492	0.0:0.0:1.0:0.0	.	177;283;283	F5GXB3;B4DX32;O60870	.;.;KIN17_HUMAN	H	283;283;177	.	ENSP00000368881:P283H	P	-	2	0	KIN	7848023	1.000000	0.71417	0.994000	0.49952	0.645000	0.38454	6.428000	0.73383	2.882000	0.98803	0.655000	0.94253	CCT		0.328	KIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046683.2	NM_012311	Missense_Mutation	11	42	1	0	6.42651e-13	0.080935	8.89825e-13	11	42				
RLBP1	6017	broad.mit.edu	37	15	89760395	89760395	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr15:89760395C>T	ENST00000268125.5	-	5	741	c.302G>A	c.(301-303)cGc>cAc	p.R101H		NM_000326.4	NP_000317.1	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	101					phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	cell body (GO:0044297)|cytosol (GO:0005829)	11-cis retinal binding (GO:0005502)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	CTTCCGTGCGCGGATGAAGCG	0.667																																						ENST00000268125.5																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18						c.(301-303)cGc>cAc		retinaldehyde binding protein 1	Vitamin A(DB00162)						49.0	49.0	49.0					15																	89760395		2200	4299	6499	SO:0001583	missense	6017				response to stimulus|visual perception|vitamin A metabolic process	cytoplasm|soluble fraction	retinol binding|transporter activity	g.chr15:89760395C>T	BC004199	CCDS32324.1	15q26.1	2007-07-16	2001-11-28			ENSG00000140522			10024	protein-coding gene	gene with protein product		180090	"""retinaldehyde-binding protein 1"""			1733864, 9326942	Standard	NM_000326		Approved	CRALBP	uc002bnl.3	P12271		ENST00000268125.5:c.302G>A	15.37:g.89760395C>T	ENSP00000268125:p.Arg101His						p.R101H	NM_000326.4	NP_000317.1	P12271	RLBP1_HUMAN			5	741	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		101					B2R667	Missense_Mutation	SNP	ENST00000268125.5	37	c.302G>A	CCDS32324.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.835124	0.91117	.	.	ENSG00000140522	ENST00000268125	D	0.92647	-3.08	5.03	5.03	0.67393	Phosphatidylinositol transfer protein-like, N-terminal (1);Cellular retinaldehyde-binding/triple function, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.97312	0.9121	H	0.94771	3.58	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98537	1.0630	10	0.87932	D	0	-18.1351	18.3642	0.90385	0.0:1.0:0.0:0.0	.	101	P12271	RLBP1_HUMAN	H	101	ENSP00000268125:R101H	ENSP00000268125:R101H	R	-	2	0	RLBP1	87561399	1.000000	0.71417	0.950000	0.38849	0.605000	0.37080	7.216000	0.77974	2.341000	0.79615	0.561000	0.74099	CGC		0.667	RLBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421135.1	NM_000326		22	35	0	0	0	0.062417	0	22	35				
PDE7A	5150	broad.mit.edu	37	8	66753620	66753620	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr8:66753620G>A	ENST00000401827.3	-	1	567	c.124C>T	c.(124-126)Cgg>Tgg	p.R42W	CTD-2532N20.1_ENST00000607622.1_lincRNA|PDE7A_ENST00000396642.3_Missense_Mutation_p.R42W	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A	42					cAMP catabolic process (GO:0006198)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|metal ion binding (GO:0046872)			large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Caffeine(DB00201)|Dyphylline(DB00651)|Ketotifen(DB00920)	GAGAGCTGCCGGGGATTGGGG	0.657																																						ENST00000401827.3																			0				large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10						c.(124-126)Cgg>Tgg		phosphodiesterase 7A	Dyphylline(DB00651)|Ketotifen(DB00920)						13.0	19.0	17.0					8																	66753620		1903	4118	6021	SO:0001583	missense	5150					cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr8:66753620G>A	L12052	CCDS34901.1, CCDS56538.1	8q13	2008-03-18				ENSG00000205268	3.1.4.17	"""Phosphodiesterases"""	8791	protein-coding gene	gene with protein product		171885				8389765, 9521885	Standard	NM_001242318		Approved	HCP1	uc003xvq.3	Q13946		ENST00000401827.3:c.124C>T	8.37:g.66753620G>A	ENSP00000385632:p.Arg42Trp					PDE7A_ENST00000396642.3_Missense_Mutation_p.R42W	p.R42W	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		1	567	-			42					A0AVH6|A8K436|A8K9G5|O15380|Q96T72	Missense_Mutation	SNP	ENST00000401827.3	37	c.124C>T	CCDS56538.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.838604	0.71373	.	.	ENSG00000205268	ENST00000401827;ENST00000396642	T;T	0.78595	-1.19;-1.19	4.12	3.22	0.36961	.	.	.	.	.	T	0.71195	0.3311	L	0.44542	1.39	0.34284	D	0.682495	D;D	0.59767	0.986;0.975	B;B	0.43809	0.432;0.165	T	0.78173	-0.2307	9	0.72032	D	0.01	.	11.1126	0.48241	0.0:0.0:0.664:0.336	.	42;42	Q13946-3;Q13946	.;PDE7A_HUMAN	W	42	ENSP00000385632:R42W;ENSP00000379881:R42W	ENSP00000379881:R42W	R	-	1	2	PDE7A	66916174	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	2.552000	0.45828	0.689000	0.31550	0.557000	0.71058	CGG		0.657	PDE7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378905.1			17	32	0	0	0	0.043863	0	17	32				
EFHC2	80258	broad.mit.edu	37	X	44171919	44171919	+	Silent	SNP	T	T	C			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chrX:44171919T>C	ENST00000420999.1	-	2	209	c.126A>G	c.(124-126)ggA>ggG	p.G42G		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	42							calcium ion binding (GO:0005509)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						CTCCACCTATTCCAGGCTTTT	0.418																																						ENST00000420999.1																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(124-126)ggA>ggG		EF-hand domain (C-terminal) containing 2							126.0	106.0	112.0					X																	44171919		1867	4091	5958	SO:0001819	synonymous_variant	80258						calcium ion binding	g.chrX:44171919T>C	AK026254	CCDS55405.1	Xp11	2014-01-31			ENSG00000183690	ENSG00000183690		"""EF-hand domain containing"""	26233	protein-coding gene	gene with protein product		300817	"""mental retardation, X-linked 74"""	MRX74		17221867	Standard	NM_025184		Approved	FLJ22843	uc004dgb.4	Q5JST6	OTTHUMG00000021393	ENST00000420999.1:c.126A>G	X.37:g.44171919T>C							p.G42G	NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN			2	209	-			42					Q5JST8|Q68DK4|Q8NEI0|Q9H653	Silent	SNP	ENST00000420999.1	37	c.126A>G	CCDS55405.1																																																																																				0.418	EFHC2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056312.2	NM_025184		24	2	0	0	0	0.076483	0	24	2				
COL6A3	1293	broad.mit.edu	37	2	238243486	238243486	+	Silent	SNP	G	G	A	rs199519571	byFrequency	TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr2:238243486G>A	ENST00000295550.4	-	41	9464	c.9012C>T	c.(9010-9012)agC>agT	p.S3004S	COL6A3_ENST00000472056.1_Silent_p.S2397S|COL6A3_ENST00000347401.3_Silent_p.S2803S|COL6A3_ENST00000409809.1_Silent_p.S2798S|COL6A3_ENST00000353578.4_Silent_p.S2798S|COL6A3_ENST00000346358.4_Silent_p.S2804S	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	3004	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGAGTTTGGCGCTGTTCTCTG	0.483													G|||	6	0.00119808	0.0	0.0	5008	,	,		18060	0.0		0.001	False		,,,				2504	0.0051					ENST00000295550.4																			0				breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217						c.(9010-9012)agC>agT		collagen, type VI, alpha 3							85.0	90.0	88.0					2																	238243486		2203	4300	6503	SO:0001819	synonymous_variant	1293				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	g.chr2:238243486G>A	X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.9012C>T	2.37:g.238243486G>A						COL6A3_ENST00000472056.1_Silent_p.S2397S|COL6A3_ENST00000353578.4_Silent_p.S2798S|COL6A3_ENST00000346358.4_Silent_p.S2804S|COL6A3_ENST00000347401.3_Silent_p.S2803S|COL6A3_ENST00000409809.1_Silent_p.S2798S	p.S3004S	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)	41	9464	-		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)	3004			Fibronectin type-III.|Nonhelical region.		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Silent	SNP	ENST00000295550.4	37	c.9012C>T	CCDS33412.1																																																																																				0.483	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		13	90	0	0	0	0.020292	0	13	90				
WAPAL	23063	broad.mit.edu	37	10	88232463	88232463	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr10:88232463G>A	ENST00000298767.5	-	6	2271	c.1799C>T	c.(1798-1800)gCa>gTa	p.A600V	WAPAL_ENST00000263070.7_5'Flank	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	600	Mediates interaction with the cohesin complex.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						GGATGGTGGTGCAGGAGCCTT	0.358																																						ENST00000298767.5																			0				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						c.(1798-1800)gCa>gTa		wings apart-like homolog (Drosophila)							127.0	113.0	118.0					10																	88232463		2203	4300	6503	SO:0001583	missense	23063				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding	g.chr10:88232463G>A	AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"""friend of EBNA2"""	610754	"""KIAA0261"""	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.1799C>T	10.37:g.88232463G>A	ENSP00000298767:p.Ala600Val						p.A600V	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN			6	2271	-			600			Mediates interaction with the cohesin complex.		A7E2B5|Q5VSK5|Q8IX10|Q92549	Missense_Mutation	SNP	ENST00000298767.5	37	c.1799C>T	CCDS7375.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.220046	0.58560	.	.	ENSG00000062650	ENST00000342368;ENST00000298767;ENST00000372076	T	0.47528	0.84	5.58	5.58	0.84498	.	0.067390	0.64402	D	0.000011	T	0.59609	0.2206	L	0.43152	1.355	0.80722	D	1	D;D;D	0.69078	0.97;0.97;0.997	P;P;D	0.66196	0.681;0.681;0.942	T	0.49351	-0.8949	10	0.15952	T	0.53	.	19.5757	0.95441	0.0:0.0:1.0:0.0	.	594;600;637	B2RTX8;Q7Z5K2;Q7Z5K2-2	.;WAPL_HUMAN;.	V	685;600;685	ENSP00000298767:A600V	ENSP00000298767:A600V	A	-	2	0	WAPAL	88222443	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.423000	0.73361	2.612000	0.88384	0.563000	0.77884	GCA		0.358	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049151.2	NM_015045		36	28	0	0	0	0.080422	0	36	28				
SPINK1	6690	broad.mit.edu	37	5	147204248	147204250	+	In_Frame_Del	DEL	GAG	GAG	-	rs543864495	byFrequency	TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr5:147204248_147204250delGAG	ENST00000296695.5	-	4	422_424	c.214_216delCTC	c.(214-216)ctcdel	p.L72del		NM_003122.3	NP_003113.2	P00995	ISK1_HUMAN	serine peptidase inhibitor, Kazal type 1	72	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				negative regulation of calcium ion import (GO:0090281)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of serine-type endopeptidase activity (GO:1900004)|regulation of acrosome reaction (GO:0060046)|regulation of store-operated calcium entry (GO:2001256)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(1)|skin(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTTTTGAATGAGGATAGAAGTC	0.399									Hereditary Pancreatitis																													ENST00000296695.5																			0				endometrium(1)|skin(1)	2						c.(214-216)del		serine peptidase inhibitor, Kazal type 1																																				SO:0001651	inframe_deletion	6690	Hereditary Pancreatitis	Familial Cancer Database			extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr5:147204248_147204250delGAG		CCDS4286.1	5q32	2011-08-31	2005-08-17		ENSG00000164266	ENSG00000164266		"""Serine peptidase inhibitors, Kazal type"""	11244	protein-coding gene	gene with protein product		167790	"""serine protease inhibitor, Kazal type 1"""				Standard	XM_005268501		Approved	Spink3, PCTT, PSTI, TATI	uc003los.2	P00995	OTTHUMG00000129730	ENST00000296695.5:c.214_216delCTC	5.37:g.147204248_147204250delGAG	ENSP00000296695:p.Leu72del						p.L72del	NM_003122.3	NP_003113.2	P00995	ISK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	422_424	-			72			Kazal-like.			In_Frame_Del	DEL	ENST00000296695.5	37	c.214_216delCTC	CCDS4286.1																																																																																				0.399	SPINK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251940.2	NM_003122		8	85						8	85	---	---	---	---
CC2D2B	387707	broad.mit.edu	37	10	97779073	97779076	+	Frame_Shift_Del	DEL	TTGT	TTGT	-	rs373856927		TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr10:97779073_97779076delTTGT	ENST00000344386.3	+	7	800_803	c.636_639delTTGT	c.(634-639)gattgtfs	p.DC212fs	RP11-690P14.4_ENST00000475252.2_Intron|ENTPD1-AS1_ENST00000458228.1_RNA|ENTPD1-AS1_ENST00000451364.1_RNA|CC2D2B_ENST00000410012.2_Frame_Shift_Del_p.DC212fs|ENTPD1-AS1_ENST00000416301.1_RNA|CC2D2B_ENST00000371198.2_Intron|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000449197.1_RNA	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	212										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		AAAGTGTAGATTGTTTGTTTGATG	0.363																																						ENST00000344386.3																			0				large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10						c.(634-639)gafs		coiled-coil and C2 domain containing 2B																																				SO:0001589	frameshift_variant	387707							g.chr10:97779073_97779076delTTGT	BC075861	CCDS41555.1, CCDS53560.1	10q23.33	2008-11-06	2007-10-19	2007-10-19	ENSG00000188649	ENSG00000188649			31666	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 130"""	C10orf130			Standard	NM_001001732		Approved	bA248J23.4	uc010qop.2	Q6DHV5	OTTHUMG00000018820	ENST00000344386.3:c.636_639delTTGT	10.37:g.97779077_97779080delTTGT	ENSP00000343747:p.Asp212fs					ENTPD1-AS1_ENST00000451364.1_RNA|RP11-690P14.4_ENST00000475252.2_Intron|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA|CC2D2B_ENST00000371198.2_Intron|CC2D2B_ENST00000410012.2_Frame_Shift_Del_p.DC212fs|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA	p.DC212fs	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)	7	800_803	+		Colorectal(252;0.158)	212					A2A3E9|B4DYD4|E9PCC3|Q5VUS0	Frame_Shift_Del	DEL	ENST00000344386.3	37	c.636_639delTTGT	CCDS41555.1																																																																																				0.363	CC2D2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000049573.3	NM_001001732		9	130						9	130	---	---	---	---
INSM2	84684	broad.mit.edu	37	14	36003785	36003785	+	Frame_Shift_Del	DEL	C	C	-			TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr14:36003785delC	ENST00000307169.3	+	1	538	c.327delC	c.(325-327)agcfs	p.S109fs		NM_032594.3	NP_115983.3	Q96T92	INSM2_HUMAN	insulinoma-associated 2	109					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10	Breast(36;0.122)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)		ccagccccagccccagtccAG	0.781																																						ENST00000307169.3																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	10						c.(325-327)agfs		insulinoma-associated 2							2.0	2.0	2.0					14																	36003785		1057	2608	3665	SO:0001589	frameshift_variant	0				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr14:36003785delC	AF260323	CCDS9657.1	14q13.1	2013-01-08			ENSG00000168348	ENSG00000168348		"""Zinc fingers, C2H2-type"""	17539	protein-coding gene	gene with protein product	"""mlt 1"""	614027					Standard	NM_032594		Approved	IA-6	uc001wth.1	Q96T92	OTTHUMG00000140223	ENST00000307169.3:c.327delC	14.37:g.36003785delC	ENSP00000306523:p.Ser109fs						p.S109fs	NM_032594.3	NP_115983.3	Q96T92	INSM2_HUMAN	LUAD - Lung adenocarcinoma(9;2.16e-07)|Lung(238;2.63e-07)|Epithelial(34;0.00145)|all cancers(34;0.00452)	GBM - Glioblastoma multiforme(112;0.0223)	1	538	+	Breast(36;0.122)|Hepatocellular(127;0.158)		109					A1L432|J9Y024|Q8N8K7|Q96Q84	Frame_Shift_Del	DEL	ENST00000307169.3	37	c.327delC	CCDS9657.1																																																																																				0.781	INSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276686.1			3	5						3	5	---	---	---	---
RP11-252A24.2	0	broad.mit.edu	37	16	74372915	74372915	+	RNA	DEL	T	T	-	rs397827801|rs11353924|rs532713769|rs398078750		TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr16:74372915delT	ENST00000429810.2	-	0	1404																											ACGTAGtttgttttttttttt	0.438																																						ENST00000429810.2																			0																																																			0							g.chr16:74372915delT																													16.37:g.74372915delT														0	1404	-									RNA	DEL	ENST00000429810.2	37																																																																																						0.438	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			3	5						3	5	---	---	---	---
RP13-329D4.3	0	broad.mit.edu	37	20	26113543	26113543	+	lincRNA	DEL	A	A	-	rs375245697		TCGA-G9-6369-01A-21D-1961-08	TCGA-G9-6369-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	954243c2-9440-4e7f-950d-ab48dfe1b570	46642782-ebe5-4fd1-8991-d0ee682f5ab5	g.chr20:26113543delA	ENST00000416563.1	-	0	250																											TCTTTGCCTTAACAACATTAT	0.363																																						ENST00000416563.1																			0																																																			0							g.chr20:26113543delA																													20.37:g.26113543delA														0	250	-									RNA	DEL	ENST00000416563.1	37																																																																																						0.363	RP13-329D4.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000078482.1			2	4						2	4	---	---	---	---
