#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCF_CI95_high	i_CCF_CI95_low	i_CCF_CI_high	i_CCF_CI_low	i_CCF_hat	i_CCF_mean	i_CCF_median	i_CCF_mode	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_CancerGermlineMut	i_CGC_CancerMolecularGenetics	i_CGC_CancerSomaticMut	i_CGC_CancerSyndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_ChrBand	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_OtherGermlineMut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_TissueType	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_ExAC_AC	i_ExAC_AN	i_ExAC_LQ	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_IS_SCNA	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SCNA_NA	i_SCNA_NB	i_SCNA_q_hat	i_SCNA_tau	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_bcgsc	i_broad	i_build	i_cDNA_Change	i_ccds_id	i_clonal	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_GERP_NR	i_dbNSFP_GERP_RS	i_dbNSFP_GERP_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_dna_fraction_in_tumor	i_entrez_gene_id	i_external_id_capture	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_hgsc	i_igv_bad	i_localAssembly_detected	i_min_val_count_KRAS	i_min_val_count_localAssembly	i_min_val_count_rna	i_min_val_count_targeted	i_n_alt_count	i_n_alt_count_KRAS	i_n_alt_count_full	i_n_alt_count_localAssembly	i_n_ref_count	i_n_ref_count_KRAS	i_n_ref_count_full	i_n_ref_count_localAssembly	i_passExAC	i_ploidy	i_pon_loglike	i_pon_pass_loglike	i_purity	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_KRAS	i_t_alt_count_full	i_t_alt_count_localAssembly	i_t_ref_count_KRAS	i_t_ref_count_full	i_t_ref_count_localAssembly	i_ucsc	i_validation_judgement_KRAS	i_validation_judgement_localAssembly	i_validation_judgement_rna	i_validation_judgement_targeted	i_validation_normal_alt_count_rna	i_validation_normal_alt_count_targeted	i_validation_normal_ref_count_rna	i_validation_normal_ref_count_targeted	i_validation_power_KRAS	i_validation_power_localAssembly	i_validation_power_rna	i_validation_power_targeted	i_validation_tumor_alt_count_rna	i_validation_tumor_alt_count_targeted	i_validation_tumor_ref_count_rna	i_validation_tumor_ref_count_targeted	t_alt_count	t_ref_count
MRVI1	10335	broad.mit.edu	37	11	10645395	10645395	+	Silent	SNP	G	G	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:10645395G>T	ENST00000436272.1	-	9	1374	c.1296C>A	c.(1294-1296)atC>atA	p.I432I	MRVI1_ENST00000527509.2_Silent_p.I368I|MRVI1_ENST00000421747.1_Silent_p.I450I|MRVI1_ENST00000531107.1_Silent_p.I451I|MRVI1_ENST00000423302.2_Silent_p.I459I|MRVI1_ENST00000558540.1_Silent_p.I144I|MRVI1_ENST00000547195.1_Silent_p.I368I|MRVI1_ENST00000534266.2_Silent_p.I144I|MRVI1_ENST00000552103.1_Silent_p.I368I|MRVI1_ENST00000545852.1_Silent_p.I144I|MRVI1_ENST00000424001.1_Silent_p.I144I|MRVI1_ENST00000541483.1_Silent_p.I253I			Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	432					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|relaxation of vascular smooth muscle (GO:0060087)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|platelet dense tubular network membrane (GO:0031095)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TTCTCATCAGGATGTGCTCCT	0.483																																						ENST00000436272.1	0.990000	0.500000	0.930000	0.640000	0.790000	0.790965	0.790000	0.850000																										0				22						c.(1294-1296)atC>atA		murine retrovirus integration site 1 homolog							99.0	98.0	99.0					11																	10645395		1960	4122	6082	SO:0001819	synonymous_variant	10335	0	0					g.chr11:10645395G>T	AF081249	CCDS44538.1, CCDS44539.1, CCDS44540.1, CCDS44538.2, CCDS55745.1, CCDS55746.1	11p15.4	2014-09-11			ENSG00000072952	ENSG00000072952			7237	protein-coding gene	gene with protein product	"""inositol 1,4,5-triphosphate-associated cGMP kinase substrate"", ""IP3R-associated cGMP kinase substrate"""	604673				10321731	Standard	NM_001098579		Approved	JAW1L, IRAG	uc010rcb.1	Q9Y6F6	OTTHUMG00000165773	ENST00000436272.1:c.1296C>A	chr11.hg19:g.10645395G>T		1					MRVI1_ENST00000534266.2_Silent_p.I144I|MRVI1_ENST00000545852.1_Silent_p.I144I|MRVI1_ENST00000531107.1_Silent_p.I451I|MRVI1_ENST00000547195.1_Silent_p.I368I|MRVI1_ENST00000423302.2_Silent_p.I459I|MRVI1_ENST00000527509.2_Silent_p.I368I|MRVI1_ENST00000541483.1_Silent_p.I253I|MRVI1_ENST00000558540.1_Silent_p.I144I|MRVI1_ENST00000552103.1_Silent_p.I368I|MRVI1_ENST00000424001.1_Silent_p.I144I|MRVI1_ENST00000421747.1_Silent_p.I450I	p.I432I			0	1	1	1.882662	Q9Y6F6	MRVI1_HUMAN		9	1374	-			B7Z3T4|B7Z6I2|B7Z9A3|E9PQY6|F5H6A1|J3KQZ7|Q17S00|Q9UNY1	Silent	SNP	ENST00000436272.1	1	1	hg19	c.1296C>A		0																																																																																								0.086957		TCGA-IB-7885-01A-11D-2154-08	0.483	MRVI1-203	KNOWN	basic	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	49		49	48	1	1.730000	-19.955600	1	0.160000	NM_001098579			16	15		192	190	0		1	0		0	0	49	0		0.999937	7.221349e-01	0	0	0	32	0	16	192
HIPK3	10114	broad.mit.edu	37	11	33373261	33373261	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:33373261A>T	ENST00000303296.4	+	15	3220	c.2915A>T	c.(2914-2916)gAc>gTc	p.D972V	HIPK3_ENST00000525975.1_Missense_Mutation_p.D951V|HIPK3_ENST00000379016.3_Missense_Mutation_p.D951V|AL122015.1_ENST00000411202.1_RNA|HIPK3_ENST00000456517.1_Missense_Mutation_p.D951V	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	972	Required for localization to nuclear speckles. {ECO:0000250}.				apoptotic process (GO:0006915)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of JUN kinase activity (GO:0043508)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						TTTGTGGAGGACACTCATGAA	0.478																																						ENST00000303296.4	1.000000	0.690000	1.000000	0.840000	0.990000	0.945648	0.990000	1.000000																										0				39						c.(2914-2916)gAc>gTc		homeodomain interacting protein kinase 3							127.0	112.0	117.0					11																	33373261		2202	4298	6500	SO:0001583	missense	10114	0	0					g.chr11:33373261A>T	AF004849	CCDS7884.1, CCDS41634.1	11p13	2008-07-18	2001-11-29		ENSG00000110422	ENSG00000110422			4915	protein-coding gene	gene with protein product		604424	"""homeodomain-interacting protein kinase 3"""			9373137, 9748262	Standard	NM_005734		Approved	PKY, DYRK6, YAK1, FIST3	uc031pzm.1	Q9H422	OTTHUMG00000132269	ENST00000303296.4:c.2915A>T	chr11.hg19:g.33373261A>T	ENSP00000304226:p.Asp972Val	0					HIPK3_ENST00000525975.1_Missense_Mutation_p.D951V|AL122015.1_ENST00000411202.1_RNA|HIPK3_ENST00000379016.3_Missense_Mutation_p.D951V|HIPK3_ENST00000456517.1_Missense_Mutation_p.D951V	p.D972V	NM_005734.3	NP_005725.3	1	2	3	2.059562	Q9H422	HIPK3_HUMAN		15	3220	+			O14632|Q2PBG4|Q2PBG5|Q92632|Q9HAS2	Missense_Mutation	SNP	ENST00000303296.4	1	1	hg19	c.2915A>T	CCDS7884.1	1	.	.	.	.	.	.	.	.	.	.	A	12.95	2.091829	0.36952	.	.	ENSG00000110422	ENST00000525975;ENST00000303296;ENST00000379016;ENST00000456517	T;T;T;T	0.52526	0.67;0.66;0.67;0.67	6.05	3.75	0.43078	6.05	3.75	0.43078	.	0.268050	0.31821	N	0.007020	T	0.33702	0.0872	N	0.14661	0.345	0.30727	N	0.747639	B;B	0.33103	0.397;0.042	B;B	0.41571	0.36;0.056	T	0.34129	-0.9841	10	0.19147	T	0.46	.	10.2146	0.43160	0.8652:0.0:0.1348:0.0	.	951;972	Q9H422-2;Q9H422	.;HIPK3_HUMAN	V	951;972;951;951	ENSP00000431710:D951V;ENSP00000304226:D972V;ENSP00000368301:D951V;ENSP00000398241:D951V	ENSP00000304226:D972V	D	+	2	0	0	HIPK3	33329837	33329837	0.998000	0.40836	0.138000	0.22173	0.108000	0.19459	3.844000	0.55873	0.538000	0.28769	-0.263000	0.10527	GAC	0.166005		TCGA-IB-7885-01A-11D-2154-08	0.478	HIPK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255358.1	1	0	1		2	2	2	0		0	0	76		76	76	1	1.730000	-8.730358	1	0.160000	NM_005734			25	25		283	279	1		1	1		0	0	76	0		1.000000	9.780475e-01	0	10	0	62	0	25	283
CAPRIN1	4076	broad.mit.edu	37	11	34107957	34107957	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:34107957C>G	ENST00000341394.4	+	11	1417	c.1228C>G	c.(1228-1230)Cca>Gca	p.P410A	CAPRIN1_ENST00000532820.1_Missense_Mutation_p.P410A|CAPRIN1_ENST00000529307.1_Missense_Mutation_p.P329A|CAPRIN1_ENST00000530820.1_Missense_Mutation_p.P410A|CAPRIN1_ENST00000389645.3_Missense_Mutation_p.P410A	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	410					negative regulation of translation (GO:0017148)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				GGTTTGCCCTCCAGGTTAGTA	0.363																																						ENST00000341394.4	1.000000	0.800000	1.000000	0.990000	0.990000	0.984349	0.990000	1.000000																										0				18						c.(1228-1230)Cca>Gca		cell cycle associated protein 1							75.0	72.0	73.0					11																	34107957		2202	4298	6500	SO:0001583	missense	4076	1	121412	30				g.chr11:34107957C>G	BC001731	CCDS31453.1, CCDS31454.1	11p13	2010-08-03	2007-03-27	2007-03-27	ENSG00000135387	ENSG00000135387			6743	protein-coding gene	gene with protein product	"""cytoplasmic activation/proliferation-associated protein-1"""	601178	"""membrane component, chromosome 11, surface marker 1"", ""GPI-anchored membrane protein 1"""	M11S1, GPIAP1		7657653, 16177067, 17210633, 14764709, 15471883	Standard	NM_005898		Approved	caprin-1, RNG105	uc001mvh.1	Q14444	OTTHUMG00000166248	ENST00000341394.4:c.1228C>G	chr11.hg19:g.34107957C>G	ENSP00000340329:p.Pro410Ala	0					CAPRIN1_ENST00000389645.3_Missense_Mutation_p.P410A|CAPRIN1_ENST00000532820.1_Missense_Mutation_p.P410A|CAPRIN1_ENST00000529307.1_Missense_Mutation_p.P329A|CAPRIN1_ENST00000530820.1_Missense_Mutation_p.P410A	p.P410A	NM_005898.4	NP_005889.3	1	2	3	2.059562	Q14444	CAPR1_HUMAN		11	1417	+		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)	A6NMY7|D3DR06|Q15074|Q6IMN4|Q6IMN7|Q9BV09	Missense_Mutation	SNP	ENST00000341394.4	1	1	hg19	c.1228C>G	CCDS31453.1	1	.	.	.	.	.	.	.	.	.	.	C	17.01	3.278865	0.59758	.	.	ENSG00000135387	ENST00000341394;ENST00000389645;ENST00000532820;ENST00000530820;ENST00000529307	T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25	6.03	6.03	0.97812	6.03	6.03	0.97812	.	0.098488	0.64402	D	0.000001	T	0.31513	0.0799	L	0.35414	1.06	0.80722	D	1	B;B	0.25850	0.136;0.023	B;B	0.21151	0.033;0.019	T	0.04621	-1.0938	10	0.21540	T	0.41	-6.388	20.5753	0.99366	0.0:1.0:0.0:0.0	.	410;410	Q14444;Q14444-2	CAPR1_HUMAN;.	A	410;410;410;410;329	ENSP00000340329:P410A;ENSP00000374296:P410A;ENSP00000434150:P410A;ENSP00000434204:P410A;ENSP00000431581:P329A	ENSP00000340329:P410A	P	+	1	0	0	CAPRIN1	34064533	34064533	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	4.642000	0.61383	2.868000	0.98415	0.557000	0.71058	CCA	0.166005		TCGA-IB-7885-01A-11D-2154-08	0.363	CAPRIN1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000388680.2	1	0	1		2	2	2	0		0	0	63		63	62	1	1.730000	-3.075787	1	0.160000	NM_005898			20	19		182	177	0		1	1		0	0	63	0		0.999995	1	0	84	0	242	0	20	182
PACSIN3	29763	broad.mit.edu	37	11	47203984	47203984	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:47203984C>T	ENST00000539589.1	-	4	523	c.181G>A	c.(181-183)Gcc>Acc	p.A61T	PACSIN3_ENST00000298838.6_Missense_Mutation_p.A61T	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	61	F-BAR domain. {ECO:0000250}.|FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.		A -> V (in dbSNP:rs7106654). {ECO:0000269|PubMed:10531379}.		endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endocytosis (GO:0045806)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|cytoskeletal protein binding (GO:0008092)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						CACTTTCGGGCCCAGTCAGCC	0.677																																						ENST00000539589.1	1.000000	0.720000	1.000000	0.870000	0.990000	0.954953	0.990000	1.000000																										0				11						c.(181-183)Gcc>Acc		protein kinase C and casein kinase substrate in neurons 3							59.0	51.0	53.0					11																	47203984		2201	4298	6499	SO:0001583	missense	29763	0	0					g.chr11:47203984C>T	AF130979	CCDS31481.1	11p12-p11	2008-02-05				ENSG00000165912			8572	protein-coding gene	gene with protein product	"""syndapin III"""	606513				10531379	Standard	NM_016223		Approved	SDPIII	uc001ndx.3	Q9UKS6		ENST00000539589.1:c.181G>A	chr11.hg19:g.47203984C>T	ENSP00000440945:p.Ala61Thr	0					PACSIN3_ENST00000298838.6_Missense_Mutation_p.A61T	p.A61T	NM_001184975.1	NP_001171904.1	1	2	3	2.059562	Q9UKS6	PACN3_HUMAN		4	523	-			A6NH84|Q9H331|Q9NWV9	Missense_Mutation	SNP	ENST00000539589.1	1	1	hg19	c.181G>A	CCDS31481.1	1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.497427	0.64186	.	.	ENSG00000165912	ENST00000298838;ENST00000415232;ENST00000539589;ENST00000528462;ENST00000531226;ENST00000525725;ENST00000530405;ENST00000524509	T;T;T;T;T;T;T	0.52526	2.31;2.31;2.31;0.66;0.66;0.66;0.66	5.01	5.01	0.66863	5.01	5.01	0.66863	Fps/Fes/Fer/CIP4 homology (3);	0.167650	0.52532	D	0.000063	T	0.40932	0.1137	L	0.46885	1.475	0.58432	D	0.999998	P	0.45531	0.86	B	0.43838	0.433	T	0.26849	-1.0091	10	0.40728	T	0.16	-13.7472	7.1565	0.25641	0.218:0.6951:0.0:0.0869	.	61	Q9UKS6	PACN3_HUMAN	T	61	ENSP00000298838:A61T;ENSP00000440945:A61T;ENSP00000437252:A61T;ENSP00000434699:A61T;ENSP00000435638:A61T;ENSP00000435672:A61T;ENSP00000431861:A61T	ENSP00000298838:A61T	A	-	1	0	0	PACSIN3	47160560	47160560	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.895000	0.48648	2.511000	0.84671	0.561000	0.74099	GCC	0.166005		TCGA-IB-7885-01A-11D-2154-08	0.677	PACSIN3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391632.1	1	0	1		2	2	2	0		0	0	116		116	112	1	1.730000	-9.718165	1	0.160000	NM_016223			32	31		359	345	1		1	1		0	0	116	0		1.000000	9.885684e-01	0	31	0	50	0	32	359
ZFP91	80829	broad.mit.edu	37	11	58347089	58347089	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:58347089G>A	ENST00000316059.6	+	1	506	c.335G>A	c.(334-336)cGa>cAa	p.R112Q	LPXN_ENST00000528954.1_5'Flank|ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.R112Q|LPXN_ENST00000528489.1_5'Flank	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	112					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein K63-linked ubiquitination (GO:0070534)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				AAGAGTCCGCGACTCCTGTGA	0.672											OREG0020976	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000316059.6	1.000000	0.820000	1.000000	0.990000	0.990000	0.989192	0.990000	1.000000																										0				26						c.(334-336)cGa>cAa		ZFP91 zinc finger protein							15.0	16.0	16.0					11																	58347089		1775	3610	5385	SO:0001583	missense	80829	1	117550	16				g.chr11:58347089G>A	AB056107	CCDS31553.1	11q12	2012-11-27	2012-11-27		ENSG00000186660	ENSG00000186660		"""Zinc fingers, C2H2-type"""	14983	protein-coding gene	gene with protein product			"""zinc finger protein homologous to Zfp91 in mouse"", ""zinc finger protein 91 homolog (mouse)"""			12738986, 20682767	Standard	NM_053023		Approved	PZF, ZNF757	uc001nmx.4	Q96JP5	OTTHUMG00000137391	ENST00000316059.6:c.335G>A	chr11.hg19:g.58347089G>A	ENSP00000339030:p.Arg112Gln	0		OREG0020976	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1030	LPXN_ENST00000528954.1_5'Flank|ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.R112Q|LPXN_ENST00000528489.1_5'Flank	p.R112Q	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	1	2	3	2.059562	Q96JP5	ZFP91_HUMAN		1	506	+		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	Missense_Mutation	SNP	ENST00000316059.6	1	1	hg19	c.335G>A	CCDS31553.1	1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.756859	0.49362	.	.	ENSG00000186660	ENST00000316059;ENST00000389918	T	0.13901	2.55	3.77	3.77	0.43336	3.77	3.77	0.43336	.	.	.	.	.	T	0.07908	0.0198	N	0.19112	0.55	0.41174	D	0.986189	P;P	0.44241	0.829;0.738	B;B	0.33339	0.162;0.078	T	0.24083	-1.0170	9	0.59425	D	0.04	-2.8941	11.4656	0.50237	0.0:0.0:1.0:0.0	.	112;112	Q96JP5-2;Q96JP5	.;ZFP91_HUMAN	Q	112	ENSP00000339030:R112Q	ENSP00000374569:R112Q	R	+	2	0	0	ZFP91	58103665	58103665	1.000000	0.71417	1.000000	0.80357	0.709000	0.40893	4.412000	0.59787	1.815000	0.52974	0.313000	0.20887	CGA	0.166005		TCGA-IB-7885-01A-11D-2154-08	0.672	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268674.1	1	0	1		2	2	2	0		0	0	23		23	22	1	1.730000	-19.331180	1	0.160000	NM_053023			12	12		90	87	0		1	1		0	0	23	0		0.999172	9.224812e-01	0	7	0	29	0	12	90
MYO7A	4647	broad.mit.edu	37	11	76918417	76918417	+	Silent	SNP	A	A	G			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:76918417A>G	ENST00000409709.3	+	42	6098	c.5826A>G	c.(5824-5826)ggA>ggG	p.G1942G	MYO7A_ENST00000605744.1_3'UTR|MYO7A_ENST00000409619.2_Silent_p.G1893G|MYO7A_ENST00000458637.2_Silent_p.G1904G	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1942	FERM 2. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCTCAGAGGGATTCAGCCTCT	0.572																																						ENST00000409709.3	1.000000	0.280000	1.000000	0.500000	0.810000	0.773573	0.810000	1.000000																										0				64						c.(5824-5826)ggA>ggG		myosin VIIA							42.0	46.0	45.0					11																	76918417		2056	4185	6241	SO:0001819	synonymous_variant	4647	0	0					g.chr11:76918417A>G	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.5826A>G	chr11.hg19:g.76918417A>G		0					MYO7A_ENST00000458637.2_Silent_p.G1904G|MYO7A_ENST00000605744.1_3'UTR|MYO7A_ENST00000409619.2_Silent_p.G1893G	p.G1942G	NM_000260.3	NP_000251.3	1	2	3	2.052473	Q13402	MYO7A_HUMAN		42	6098	+			B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Silent	SNP	ENST00000409709.3	0	1	hg19	c.5826A>G	CCDS53683.1	0																																																																																								0.164678		TCGA-IB-7885-01A-11D-2154-08	0.572	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	0	0	1		2	2	2	0		0	0	23		23	23	1	1.730000	-8.532400	1	0.160000	NM_000260			4	4		63	61	0		1	1		0	0	23	0		0.885216	2.957550e-01	0	4	0	11	0	4	63
ENDOD1	23052	broad.mit.edu	37	11	94862206	94862206	+	Silent	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:94862206G>A	ENST00000278505.4	+	2	1084	c.966G>A	c.(964-966)gaG>gaA	p.E322E		NM_015036.2	NP_055851.1	O94919	ENDD1_HUMAN	endonuclease domain containing 1	322						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				AGGCATCTGAGGGAAGTAGTA	0.433																																						ENST00000278505.4	1.000000	0.650000	1.000000	0.790000	0.970000	0.919209	0.970000	1.000000																										0				11						c.(964-966)gaG>gaA		endonuclease domain containing 1							68.0	64.0	65.0					11																	94862206		1842	4084	5926	SO:0001819	synonymous_variant	23052	0	0					g.chr11:94862206G>A	BC026191	CCDS41699.1	11q21	2010-03-19			ENSG00000149218	ENSG00000149218			29129	protein-coding gene	gene with protein product						10048485	Standard	NM_015036		Approved	KIAA0830	uc001pfh.3	O94919	OTTHUMG00000167835	ENST00000278505.4:c.966G>A	chr11.hg19:g.94862206G>A		0						p.E322E	NM_015036.2	NP_055851.1	1	2	3	2.052473	O94919	ENDD1_HUMAN		2	1084	+		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)	A8K6K8|Q6GQY5|Q8TAQ8	Silent	SNP	ENST00000278505.4	1	1	hg19	c.966G>A	CCDS41699.1	1																																																																																								0.164678		TCGA-IB-7885-01A-11D-2154-08	0.433	ENDOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396545.1	1	0	1		2	2	2	0		0	0	69		69	68	1	1.730000	-2.376787	0	0.160000	NM_015036			27	26		328	322	1		1	1		0	0	69	0		1.000000	9.984022e-01	0	54	0	69	0	27	328
NCAM1	4684	broad.mit.edu	37	11	113126681	113126681	+	Silent	SNP	C	C	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr11:113126681C>T	ENST00000533760.1	+	15	2126	c.1527C>T	c.(1525-1527)gaC>gaT	p.D509D	NCAM1_ENST00000316851.7_Silent_p.D627D|NCAM1_ENST00000397957.4_3'UTR	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	637	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AGCAGGATGACGGCGGCTCCC	0.552																																						ENST00000533760.1	1.000000	0.520000	1.000000	0.810000	0.990000	0.934168	0.990000	1.000000																										0				49						c.(1525-1527)gaC>gaT		neural cell adhesion molecule 1							37.0	38.0	38.0					11																	113126681		1968	4146	6114	SO:0001819	synonymous_variant	4684	2	120884	26				g.chr11:113126681C>T		CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.1527C>T	chr11.hg19:g.113126681C>T		0					NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000316851.7_Silent_p.D627D	p.D509D	NM_001242608.1	NP_001229537.1	1	2	3	2.052473	P13591	NCAM1_HUMAN		15	2126	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Silent	SNP	ENST00000533760.1	0	1	hg19	c.1527C>T		1																																																																																								0.164678		TCGA-IB-7885-01A-11D-2154-08	0.552	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	1	0	1		2	2	2	0		0	0	18		18	18	1	1.730000	-11.619810	1	0.160000	NM_000615			6	6		57	56	1		1	0		0	0	18	0		0.965808	3.565390e-02	0	0	0	3	0	6	57
SLCO1C1	53919	broad.mit.edu	37	12	20854341	20854341	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:20854341G>T	ENST00000266509.2	+	3	587	c.219G>T	c.(217-219)agG>agT	p.R73S	SLCO1C1_ENST00000540354.1_Missense_Mutation_p.R73S|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.R73S|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.R73S|SLCO1C1_ENST00000545102.1_Intron	NM_017435.4	NP_059131.1	Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	73					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)				Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)	TAGAGAGAAGGTTTGATATCC	0.393																																						ENST00000266509.2	1.000000	0.710000	1.000000	0.850000	0.990000	0.947826	0.990000	1.000000																										0				60						c.(217-219)agG>agT		solute carrier organic anion transporter family, member 1C1	Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Diclofenac(DB00586)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Meclofenamic acid(DB00939)|Methotrexate(DB00563)|Ouabain(DB01092)|Phenytoin(DB00252)|Probenecid(DB01032)						216.0	175.0	189.0					12																	20854341		2203	4300	6503	SO:0001583	missense	53919	0	0					g.chr12:20854341G>T	AF260704	CCDS8683.1, CCDS53757.1, CCDS53758.1, CCDS53759.1	12p12.2	2013-05-22	2003-11-25	2003-11-26	ENSG00000139155	ENSG00000139155		"""Solute carriers"""	13819	protein-coding gene	gene with protein product		613389	"""solute carrier family 21 (organic anion transporter), member 14"""	SLC21A14			Standard	NM_017435		Approved	OATP-F, OATP1C1, OATP1	uc010sii.2	Q9NYB5	OTTHUMG00000168966	ENST00000266509.2:c.219G>T	chr12.hg19:g.20854341G>T	ENSP00000266509:p.Arg73Ser	1					SLCO1C1_ENST00000545102.1_Intron|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.R73S|SLCO1C1_ENST00000381552.1_Missense_Mutation_p.R73S|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.R73S	p.R73S	NM_017435.4	NP_059131.1	1	2	3	2.113570	Q9NYB5	SO1C1_HUMAN		3	587	+	Esophageal squamous(101;0.149)		B7Z251|B7Z3Q3|B7Z8P1|F5GZD6|Q5JPA4	Missense_Mutation	SNP	ENST00000266509.2	1	1	hg19	c.219G>T	CCDS8683.1	1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.611539	0.66558	.	.	ENSG00000139155	ENST00000545604;ENST00000540354;ENST00000266509;ENST00000381552	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	5.09	2.07	0.26955	5.09	2.07	0.26955	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.76040	0.3932	H	0.95611	3.695	0.45205	D	0.998213	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.87578	0.998;0.996;0.995	T	0.76691	-0.2866	10	0.87932	D	0	.	6.9954	0.24779	0.3913:0.0:0.6087:0.0	.	73;73;73	B7Z3Q3;Q5JPA4;Q9NYB5	.;.;SO1C1_HUMAN	S	73	ENSP00000444149:R73S;ENSP00000438665:R73S;ENSP00000266509:R73S;ENSP00000370964:R73S	ENSP00000266509:R73S	R	+	3	2	2	SLCO1C1	20745608	20745608	0.996000	0.38824	1.000000	0.80357	0.997000	0.91878	0.428000	0.21395	0.740000	0.32651	0.655000	0.94253	AGG	0.177116		TCGA-IB-7885-01A-11D-2154-08	0.393	SLCO1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401765.1	1	0	1		2	2	2	0		0	0	106		106	106	1	1.730000	-20.000000	1	0.160000	NM_017435			35	35		418	408	0		1			0	0	106	0		1.000000	0	0	0	0	0	0	35	418
ABCC9	10060	broad.mit.edu	37	12	21997786	21997786	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:21997786A>T	ENST00000261201.4	-	25	3159	c.3160T>A	c.(3160-3162)Tcc>Acc	p.S1054T	RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.S1018T|ABCC9_ENST00000261200.4_Missense_Mutation_p.S1054T	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1054	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.		S -> Y (in HTOCD). {ECO:0000269|PubMed:22610116}.		defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	ACAGTGAGGGATGTAACAAGG	0.413																																						ENST00000261201.4	1.000000	0.970000	1.000000	0.990000	0.990000	0.998013	0.990000	1.000000																										0				118						c.(3160-3162)Tcc>Acc		ATP-binding cassette, sub-family C (CFTR/MRP), member 9	Adenosine triphosphate(DB00171)|Glyburide(DB01016)						142.0	139.0	140.0					12																	21997786		2203	4300	6503	SO:0001583	missense	10060	0	0					g.chr12:21997786A>T	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.3160T>A	chr12.hg19:g.21997786A>T	ENSP00000261201:p.Ser1054Thr	1					RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.S1018T|ABCC9_ENST00000261200.4_Missense_Mutation_p.S1054T	p.S1054T	NM_005691.2	NP_005682.2	1	2	3	2.113570	O60706	ABCC9_HUMAN		25	3159	-			O60707	Missense_Mutation	SNP	ENST00000261201.4	1	1	hg19	c.3160T>A	CCDS8694.1	1	.	.	.	.	.	.	.	.	.	.	A	19.31	3.803647	0.70682	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.90620	-2.7;-2.7;-2.7;-2.7	5.27	5.27	0.74061	5.27	5.27	0.74061	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.278617	0.37393	N	0.002119	D	0.87877	0.6288	L	0.35723	1.085	0.58432	D	0.999994	B;B	0.32382	0.368;0.291	B;B	0.39152	0.292;0.091	D	0.85757	0.1347	10	0.30854	T	0.27	-13.5709	15.2233	0.73330	1.0:0.0:0.0:0.0	.	1054;1054	O60706;O60706-2	ABCC9_HUMAN;.	T	1054;681;1054;1018	ENSP00000261200:S1054T;ENSP00000440521:S681T;ENSP00000261201:S1054T;ENSP00000261202:S1018T	ENSP00000261200:S1054T	S	-	1	0	0	ABCC9	21889053	21889053	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.092000	0.94157	1.985000	0.57927	0.528000	0.53228	TCC	0.177116		TCGA-IB-7885-01A-11D-2154-08	0.413	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	1	0	1		2	2	2	0		0	0	67		67	66	1	1.730000	-15.104770	1	0.160000	NM_005691			44	41		389	385	1		1	0		0	0	67	0		1.000000	4.665557e-01	0	0	0	15	0	44	389
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08			C	A	C	C		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000256078.4	1.000000	0.460000	1.000000	0.700000	0.990000	0.892419	0.990000	1.000000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes			Dom	yes		12	12p12.1	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog				"""L, E, M, O"""	L, E, M, O			pancreatic, colorectal, lung, thyroid, AML, others	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	25349						c.(34-36)gGt>gTt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	0	0		Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	g.chr12:25398284C>A	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	chr12.hg19:g.25398284C>A	ENSP00000256078:p.Gly12Val	1	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V	p.G12V	NM_033360.2	NP_203524.1	1	2	3	2.113570	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)	2	98	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	1	1	hg19	c.35G>T	CCDS8703.1	1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	0	KRAS	25289551	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	0.177116		TCGA-IB-7885-01A-11D-2154-08	0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	1	0	1		2	2	2	0		0	0	38		38	37	1	1.730000	-5.394511	1	0.160000	NM_033360			7	7		88	88	0		1	1	1	0	0	38	408		0.981954	6.948953e-01	9.999989e-01	7	33	24	540	7	88
NIN	51199	broad.mit.edu	37	14	51288700	51288700	+	Silent	SNP	T	T	G			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr14:51288700T>G	ENST00000382041.3	-	3	265	c.75A>C	c.(73-75)acA>acC	p.T25T	NIN_ENST00000530997.2_Silent_p.T25T|NIN_ENST00000382043.4_Silent_p.T25T|NIN_ENST00000453196.1_Silent_p.T25T|NIN_ENST00000389868.3_Silent_p.T25T|NIN_ENST00000324330.9_Silent_p.T25T|NIN_ENST00000245441.5_Silent_p.T25T|RP11-286O18.1_ENST00000555966.1_RNA	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	25	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CCAGGGACCCTGTGCCCGTCG	0.582			T	PDGFRB	MPD																																	ENST00000382041.3	1.000000	0.910000	1.000000	0.990000	0.990000	0.993917	0.990000	1.000000				Dom	yes			Dom	yes		14	14q24	14q24	51199	T	ninein (GSK3B interacting protein)				L	L	PDGFRB		MPD		0				71						c.(73-75)acA>acC		ninein (GSK3B interacting protein)							259.0	236.0	244.0					14																	51288700		2203	4300	6503	SO:0001819	synonymous_variant	51199	0	0					g.chr14:51288700T>G	AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.75A>C	chr14.hg19:g.51288700T>G		0					NIN_ENST00000530997.2_Silent_p.T25T|NIN_ENST00000382043.4_Silent_p.T25T|NIN_ENST00000453196.1_Silent_p.T25T|NIN_ENST00000389868.3_Silent_p.T25T|NIN_ENST00000324330.9_Silent_p.T25T|NIN_ENST00000245441.5_Silent_p.T25T|RP11-286O18.1_ENST00000555966.1_RNA	p.T25T	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	0	0	0	2.027661	Q8N4C6	NIN_HUMAN		3	265	-	all_epithelial(31;0.00244)|Breast(41;0.127)		A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Silent	SNP	ENST00000382041.3	1	1	hg19	c.75A>C	CCDS32079.1	1																																																																																								0.150485		TCGA-IB-7885-01A-11D-2154-08	0.582	NIN-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000395207.2	1	0	1		2	2	2	0		0	0	334		334	331	1	1.730000	-20.000000	1	0.160000	NM_182946			112	110		1138	1098	0		1	0		0	0	334	0		1.000000	9.589758e-02	0	1	0	5	0	112	1138
ACAN	176	broad.mit.edu	37	15	89386782	89386782	+	Silent	SNP	C	C	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr15:89386782C>T	ENST00000561243.1	+	5	954	c.954C>T	c.(952-954)tgC>tgT	p.C318C	ACAN_ENST00000558207.1_Silent_p.C318C|ACAN_ENST00000439576.2_Silent_p.C318C|ACAN_ENST00000559004.1_Silent_p.C318C|ACAN_ENST00000352105.7_Silent_p.C318C			P16112	PGCA_HUMAN	aggrecan	318	G1-B'.|Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGCCCAACTGCGGTGGCAACC	0.677																																						ENST00000561243.1	1.000000	0.360000	0.890000	0.500000	0.670000	0.692504	0.670000	1.000000																										0				93						c.(952-954)tgC>tgT		aggrecan							29.0	33.0	31.0					15																	89386782		2066	4189	6255	SO:0001819	synonymous_variant	176	0	0					g.chr15:89386782C>T	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.954C>T	chr15.hg19:g.89386782C>T		0					ACAN_ENST00000559004.1_Silent_p.C318C|ACAN_ENST00000558207.1_Silent_p.C318C|ACAN_ENST00000352105.7_Silent_p.C318C|ACAN_ENST00000439576.2_Silent_p.C318C	p.C318C			0	1	1	2.032754	P16112	PGCA_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)	5	954	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Silent	SNP	ENST00000561243.1	0	1	hg19	c.954C>T	CCDS53970.1	0																																																																																								0.154589		TCGA-IB-7885-01A-11D-2154-08	0.677	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	0	0	1		2	2	2	0		0	0	50		50	50	1	1.730000	-14.007260	1	0.160000	NM_001135			11	10		194	181	0		1	0		0	0	50	0		0.997743	1.028708e-02	0	0	0	3	0	11	194
MRPL12	6182	broad.mit.edu	37	17	79673938	79673938	+	Silent	SNP	G	G	A	rs140892819		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr17:79673938G>A	ENST00000333676.3	+	4	493	c.348G>A	c.(346-348)gcG>gcA	p.A116A	SLC25A10_ENST00000571730.1_Silent_p.A116A|SLC25A10_ENST00000541223.1_Silent_p.A116A	NM_002949.3	NP_002940.2	P52815	RM12_HUMAN	mitochondrial ribosomal protein L12	116					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from mitochondrial promoter (GO:0006390)|translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|lung(2)|urinary_tract(1)	4	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			TCCCTAAGGCGGTGGAAGAAG	0.577																																						ENST00000333676.3	1.000000	0.500000	1.000000	0.680000	0.900000	0.861200	0.900000	1.000000																										0				4						c.(346-348)gcG>gcA		mitochondrial ribosomal protein L12		A		1,4405	2.1+/-5.4	0,1,2202	60.0	51.0	54.0		348	-7.6	0.0	17	dbSNP_134	54	0,8600		0,0,4300	no	coding-synonymous	MRPL12	NM_002949.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		116/199	79673938	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6182	0	0					g.chr17:79673938G>A	X79865	CCDS11785.1	17q25	2012-11-14			ENSG00000262814	ENSG00000262814		"""Mitochondrial ribosomal proteins / large subunits"""	10378	protein-coding gene	gene with protein product		602375		RPML12		8626705, 9169145	Standard	NM_002949		Approved	MRPL7/L12, MRPL7		P52815	OTTHUMG00000178171	ENST00000333676.3:c.348G>A	chr17.hg19:g.79673938G>A		0					SLC25A10_ENST00000571730.1_Silent_p.A116A|SLC25A10_ENST00000541223.1_Silent_p.A116A	p.A116A	NM_002949.3	NP_002940.2	0	1	1	2.032483	P52815	RM12_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)	4	493	+	all_neural(118;0.0878)|all_lung(278;0.23)		Q969U0|Q9HCA2|Q9UQJ3	Silent	SNP	ENST00000333676.3	1	1	hg19	c.348G>A	CCDS11785.1	1																																																																																								0.154589		TCGA-IB-7885-01A-11D-2154-08	0.577	MRPL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440812.1	0	0	1		2	2	2	0		0	0	44		44	44	1	1.730000	-3.222626	1	0.160000	NM_002949			12	12		154	150	0		1	1		0	0	44	0		0.999104	9.999998e-01	0	118	0	368	0	12	154
DSC1	1823	broad.mit.edu	37	18	28736086	28736086	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr18:28736086G>A	ENST00000257198.5	-	4	652	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257197.3_Missense_Mutation_p.R131C	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	131					homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R131C(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CTCTTGCTGCGCTTGAGGGCT	0.418																																						ENST00000257198.5	0.580000	0.180000	0.470000	0.260000	0.350000	0.372116	0.350000	0.340000																										2	Substitution - Missense(2)	p.R131C(2)	large_intestine(2)	53						c.(391-393)Cgc>Tgc		desmocollin 1							141.0	119.0	127.0					18																	28736086		2203	4300	6503	SO:0001583	missense	1823	3	121412	30				g.chr18:28736086G>A	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"""Cadherins / Major cadherins"""	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.391C>T	chr18.hg19:g.28736086G>A	ENSP00000257198:p.Arg131Cys	1					DSC1_ENST00000257197.3_Missense_Mutation_p.R131C|RP11-408H20.2_ENST00000581836.1_RNA	p.R131C	NM_024421.2	NP_077739.1	0	1	1	1.867096	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)	4	652	-			Q9HB01	Missense_Mutation	SNP	ENST00000257198.5	1	1	hg19	c.391C>T	CCDS11894.1	0	.	.	.	.	.	.	.	.	.	.	G	23.6	4.435632	0.83885	.	.	ENSG00000134765	ENST00000257197;ENST00000257198	T;T	0.63744	-0.06;-0.06	5.66	3.76	0.43208	5.66	3.76	0.43208	Cadherin-like (1);	0.277613	0.24083	N	0.041706	T	0.80732	0.4679	M	0.91561	3.22	0.80722	D	1	D;D	0.89917	0.999;1.0	P;P	0.60609	0.791;0.877	D	0.86178	0.1604	10	0.87932	D	0	.	14.689	0.69070	0.0:0.0:0.74:0.26	.	131;131	Q08554;Q9HB00	DSC1_HUMAN;.	C	131	ENSP00000257197:R131C;ENSP00000257198:R131C	ENSP00000257197:R131C	R	-	1	0	0	DSC1	26990084	26990084	0.989000	0.36119	0.953000	0.39169	0.987000	0.75469	2.123000	0.41996	1.502000	0.48669	0.655000	0.94253	CGC	0.086957		TCGA-IB-7885-01A-11D-2154-08	0.418	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	0	0	1		16	2	2	1		1	1	78		78	77	1	1.730000	-3.481508	1	0.160000	NM_004948, NM_024421			11	11		347	344	0		0			1	0	78	0		0.207915	0	0	0	0	0	0	11	347
FBXO15	201456	broad.mit.edu	37	18	71790624	71790624	+	Missense_Mutation	SNP	G	G	A	rs144253482		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr18:71790624G>A	ENST00000419743.2	-	8	1196	c.1117C>T	c.(1117-1119)Cgc>Tgc	p.R373C	FBXO15_ENST00000269500.5_Missense_Mutation_p.R297C	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	373						SCF ubiquitin ligase complex (GO:0019005)				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		AAGAGATTGCGAAATGTACCA	0.428													G|||	1	0.000199681	0.0	0.0	5008	,	,		15347	0.0		0.0	False		,,,				2504	0.001					ENST00000419743.2	0.990000	0.580000	0.950000	0.710000	0.840000	0.836188	0.840000	0.910000																										0				27						c.(1117-1119)Cgc>Tgc		F-box protein 15		G	CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	76.0	76.0	76.0		1117,889	4.6	0.0	18	dbSNP_134	76	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FBXO15	NM_001142958.1,NM_152676.2	180,180	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	373/511,297/435	71790624	2,13004	2203	4300	6503	SO:0001583	missense	201456	20	121412	42				g.chr18:71790624G>A	AK094215	CCDS45884.1	18q22.3	2006-03-09	2004-06-15		ENSG00000141665	ENSG00000141665		"""F-boxes /  ""other"""""	13617	protein-coding gene	gene with protein product		609093	"""F-box only protein 15"""			12665572	Standard	NM_152676		Approved	MGC39671, FBX15	uc002llf.2	Q8NCQ5	OTTHUMG00000132842	ENST00000419743.2:c.1117C>T	chr18.hg19:g.71790624G>A	ENSP00000393154:p.Arg373Cys	1					FBXO15_ENST00000269500.5_Missense_Mutation_p.R297C	p.R373C	NM_001142958.1	NP_001136430.1	0	1	1	1.867096	Q8NCQ5	FBX15_HUMAN		8	1196	-		Esophageal squamous(42;0.103)|Prostate(75;0.173)	B3KST3	Missense_Mutation	SNP	ENST00000419743.2	1	1	hg19	c.1117C>T	CCDS45884.1	0	.	.	.	.	.	.	.	.	.	.	G	12.05	1.822669	0.32237	2.27E-4	1.16E-4	ENSG00000141665	ENST00000269500;ENST00000419743	T;T	0.46063	0.88;0.88	5.45	4.58	0.56647	5.45	4.58	0.56647	.	0.718217	0.13850	N	0.358421	T	0.50837	0.1639	L	0.59436	1.845	0.09310	N	0.999999	D;D	0.76494	0.999;0.998	P;P	0.50490	0.642;0.549	T	0.46775	-0.9167	10	0.87932	D	0	-24.4827	14.1359	0.65287	0.0:0.1514:0.8486:0.0	.	373;297	B3KST3;Q8NCQ5	.;FBX15_HUMAN	C	297;373	ENSP00000269500:R297C;ENSP00000393154:R373C	ENSP00000269500:R297C	R	-	1	0	0	FBXO15	69941604	69941604	0.793000	0.28825	0.007000	0.13788	0.007000	0.05969	1.823000	0.39062	1.290000	0.44636	0.655000	0.94253	CGC	0.086957		TCGA-IB-7885-01A-11D-2154-08	0.428	FBXO15-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000444223.1	1	0	1		2	2	2	0		0	0	65		65	65	1	1.730000	-8.069414	1	0.160000	NM_152676			24	24		271	265	0		1	1		0	0	65	0		1.000000	3.894504e-02	0	4	0	0	0	24	271
KIR3DL3	115653	broad.mit.edu	37	19	55247491	55247491	+	Silent	SNP	C	C	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr19:55247491C>T	ENST00000291860.1	+	8	1179	c.1161C>T	c.(1159-1161)tgC>tgT	p.C387C	KIR2DL3_ENST00000434419.2_5'Flank|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000342376.3_5'Flank|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000538269.1_Intron	NM_153443.3	NP_703144.2	Q8N743	KI3L3_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3	387						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		TGAATCACTGCGTTTTCACAC	0.517																																						ENST00000291860.1	1.000000	0.990000	1.000000	0.990000	0.990000	1.000000	0.990000	1.000000																										0				21						c.(1159-1161)tgC>tgT		killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3							31.0	38.0	36.0					19																	55247491		1799	3817	5616	SO:0001819	synonymous_variant	115653	1	108008	35				g.chr19:55247491C>T	AF352324	CCDS12903.1	19q13.4	2014-05-22			ENSG00000242019	ENSG00000242019		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16312	protein-coding gene	gene with protein product		610095				11513144	Standard	NM_153443		Approved	KIRC1, KIR3DL7, KIR44, CD158z	uc002qgu.1	Q8N743	OTTHUMG00000065884	ENST00000291860.1:c.1161C>T	chr19.hg19:g.55247491C>T		0					KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_5'Flank|KIR3DL1_ENST00000538269.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000342376.3_5'Flank	p.C387C	NM_153443.3	NP_703144.2	0	0	0	1.999485	Q8N743	KI3L3_HUMAN		8	1179	+			A9PL62|A9PL64|A9PL65|A9PL66|A9PL67|A9PL68|A9PZV4|A9PZV7|A9PZV8|A9Q066|A9Q0R5|A9Q242|A9Q250|A9Q251|O95056|Q1X775|Q1X777|Q1X778|Q1X779|Q1X780|Q1X781|Q1X782|Q1X783|Q7Z7N4|Q8NHI2|Q8NHI3|Q9UEI4	Silent	SNP	ENST00000291860.1	0	1	hg19	c.1161C>T	CCDS12903.1	1																																																																																								0.137931		TCGA-IB-7885-01A-11D-2154-08	0.517	KIR3DL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141147.1	0	0	1		2	2	2	0		0	0	104		104	199	1	1.730000	-20.000000	1	0.160000	NM_153443			56	37		254	135	0		1			0	0	104	0		1.000000	0	0	0	0	0	0	56	254
NGF	4803	broad.mit.edu	37	1	115829233	115829233	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:115829233G>A	ENST00000369512.2	-	3	352	c.184C>T	c.(184-186)Cgc>Tgc	p.R62C	RP4-663N10.1_ENST00000425449.1_RNA	NM_002506.2	NP_002497.2	P01138	NGF_HUMAN	nerve growth factor (beta polypeptide)	62					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|adult locomotory behavior (GO:0008344)|apoptotic signaling pathway (GO:0097190)|circadian rhythm (GO:0007623)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|inflammatory response (GO:0006954)|memory (GO:0007613)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|nerve growth factor processing (GO:0032455)|neuron apoptotic process (GO:0051402)|neuron projection morphogenesis (GO:0048812)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axon extension (GO:0045773)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neurotrophin TRK receptor signaling pathway (GO:0051388)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|Ras protein signal transduction (GO:0007265)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of neurotransmitter secretion (GO:0046928)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to nicotine (GO:0035094)|response to ozone (GO:0010193)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|sensory perception of pain (GO:0019233)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)	nerve growth factor receptor binding (GO:0005163)|receptor signaling protein activity (GO:0005057)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	CCCGCCACGCGTGCAGCTATC	0.632																																						ENST00000369512.2	1.000000	0.590000	1.000000	0.750000	0.930000	0.895037	0.930000	1.000000																										0				13						c.(184-186)Cgc>Tgc		nerve growth factor (beta polypeptide)	Clenbuterol(DB01407)						48.0	48.0	48.0					1																	115829233		2203	4300	6503	SO:0001583	missense	4803	2	121410	35				g.chr1:115829233G>A		CCDS882.1	1p13.1	2014-09-17	2008-02-07	2008-02-07	ENSG00000134259	ENSG00000134259		"""Endogenous ligands"""	7808	protein-coding gene	gene with protein product		162030		NGFB			Standard	XM_006710663		Approved		uc001efu.1	P01138	OTTHUMG00000011880	ENST00000369512.2:c.184C>T	chr1.hg19:g.115829233G>A	ENSP00000358525:p.Arg62Cys	0					RP4-663N10.1_ENST00000425449.1_RNA	p.R62C	NM_002506.2	NP_002497.2	1	2	3	2.045242	P01138	NGF_HUMAN		3	352	-	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)	A1A4E5|Q6FHA0|Q96P60|Q9P2Q8|Q9UKL8	Missense_Mutation	SNP	ENST00000369512.2	1	1	hg19	c.184C>T	CCDS882.1	1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.943321	0.34283	.	.	ENSG00000134259	ENST00000369512	T	0.63417	-0.04	5.06	-0.0542	0.13815	5.06	-0.0542	0.13815	.	0.100578	0.42548	D	0.000686	T	0.58206	0.2106	M	0.77486	2.375	0.09310	N	0.999997	D	0.76494	0.999	P	0.51806	0.68	T	0.63184	-0.6694	10	0.87932	D	0	-22.5746	14.8749	0.70488	0.0:0.0:0.6922:0.3078	.	62	P01138	NGF_HUMAN	C	62	ENSP00000358525:R62C	ENSP00000358525:R62C	R	-	1	0	0	NGF	115630756	115630756	0.066000	0.20996	0.543000	0.28128	0.207000	0.24258	1.510000	0.35790	0.104000	0.17725	0.467000	0.42956	CGC	0.163347		TCGA-IB-7885-01A-11D-2154-08	0.632	NGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032832.1	1	0	1		2	2	2	0		0	0	62		62	60	1	1.730000	-19.999990	1	0.160000	NM_002506			20	19		251	247	0		1	0		0	0	62	0		0.999995	1.749579e-02	0	0	0	3	0	20	251
ETV3L	440695	broad.mit.edu	37	1	157068532	157068532	+	Missense_Mutation	SNP	C	C	T	rs147712441	byFrequency	TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:157068532C>T	ENST00000454449.2	-	3	736	c.452G>A	c.(451-453)cGg>cAg	p.R151Q		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	151			R -> W (in dbSNP:rs12083811).		cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				CAGCGCTGGCCGACACAGGGC	0.647																																						ENST00000454449.2	1.000000	0.860000	1.000000	0.990000	0.990000	0.990165	0.990000	1.000000																										0				24						c.(451-453)cGg>cAg		ets variant 3-like		C	GLN/ARG	2,4404	2.1+/-5.4	0,2,2201	38.0	43.0	41.0		452	-1.0	0.5	1	dbSNP_134	41	1,8599		0,1,4299	no	missense	ETV3L	NM_001004341.2	43	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	benign	151/362	157068532	3,13003	2203	4300	6503	SO:0001583	missense	440695	25	121392	44				g.chr1:157068532C>T	AK131392	CCDS30893.1	1q23.1	2013-09-24	2008-09-12		ENSG00000253831	ENSG00000253831			33834	protein-coding gene	gene with protein product			"""ets variant gene 3-like"""				Standard	NM_001004341		Approved	FLJ16478	uc001fqq.2	Q6ZN32	OTTHUMG00000041325	ENST00000454449.2:c.452G>A	chr1.hg19:g.157068532C>T	ENSP00000430271:p.Arg151Gln	0						p.R151Q	NM_001004341.2	NP_001004341.1	1	2	3	2.051566	Q6ZN32	ETV3L_HUMAN		3	736	-	Hepatocellular(266;0.158)	Prostate(1639;0.184)		Missense_Mutation	SNP	ENST00000454449.2	1	1	hg19	c.452G>A	CCDS30893.1	1	.	.	.	.	.	.	.	.	.	.	C	1.717	-0.497505	0.04291	4.54E-4	1.16E-4	ENSG00000253831	ENST00000454449	T	0.08193	3.12	4.3	-1.01	0.10169	4.3	-1.01	0.10169	.	.	.	.	.	T	0.01124	0.0037	N	0.11201	0.11	0.09310	N	1	B	0.13594	0.008	B	0.06405	0.002	T	0.46470	-0.9189	9	0.16896	T	0.51	.	10.2253	0.43222	0.0:0.5723:0.0:0.4277	.	151	Q6ZN32	ETV3L_HUMAN	Q	151	ENSP00000430271:R151Q	ENSP00000430271:R151Q	R	-	2	0	0	ETV3L	155335156	155335156	0.960000	0.32886	0.459000	0.27081	0.103000	0.19146	-1.036000	0.03560	-0.603000	0.05767	-0.797000	0.03246	CGG	0.164678		TCGA-IB-7885-01A-11D-2154-08	0.647	ETV3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099024.2	1	0	1		2	2	2	0		0	0	70		70	70	1	1.730000	-3.221883	1	0.160000	NM_001004341			41	41		396	391	0		1			0	0	70	0		1.000000	0	0	0	0	0	0	41	396
SPTA1	6708	broad.mit.edu	37	1	158596687	158596687	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:158596687T>G	ENST00000368147.4	-	41	5955	c.5775A>C	c.(5773-5775)gaA>gaC	p.E1925D		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1925					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CATAATCGTCTTCCAATTGCA	0.453																																						ENST00000368147.4	1.000000	0.630000	1.000000	0.730000	0.850000	0.855499	0.850000	1.000000																										0				307						c.(5773-5775)gaA>gaC		spectrin, alpha, erythrocytic 1							176.0	172.0	174.0					1																	158596687		1869	4111	5980	SO:0001583	missense	6708	0	0					g.chr1:158596687T>G	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.5775A>C	chr1.hg19:g.158596687T>G	ENSP00000357129:p.Glu1925Asp	0						p.E1925D	NM_003126.2	NP_003117.2	1	2	3	2.051566	P02549	SPTA1_HUMAN		41	5955	-	all_hematologic(112;0.0378)		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	1	1	hg19	c.5775A>C	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	T	1.984	-0.433334	0.04669	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.39997	1.05;1.05	5.41	-3.96	0.04106	5.41	-3.96	0.04106	.	0.513432	0.14584	N	0.310658	T	0.04634	0.0126	N	0.17564	0.495	0.21416	N	0.999695	B	0.06786	0.001	B	0.09377	0.004	T	0.33854	-0.9852	10	0.09338	T	0.73	.	0.247	0.00200	0.2871:0.2601:0.2146:0.2382	.	1925	P02549	SPTA1_HUMAN	D	1925;1922	ENSP00000357130:E1925D;ENSP00000357129:E1922D	ENSP00000357129:E1922D	E	-	3	2	2	SPTA1	156863311	156863311	0.995000	0.38212	0.001000	0.08648	0.340000	0.28889	0.254000	0.18314	-0.327000	0.08551	0.460000	0.39030	GAA	0.164678		TCGA-IB-7885-01A-11D-2154-08	0.453	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	1	0	1		2	2	2	0		0	0	146		146	146	1	1.730000	-9.487158	1	0.160000	NM_003126			47	46		652	637	0		1	0		0	0	146	0		1.000000	0	0	0	0	1	0	47	652
FCER1A	2205	broad.mit.edu	37	1	159273851	159273851	+	Silent	SNP	T	T	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:159273851T>A	ENST00000368115.1	+	4	309	c.210T>A	c.(208-210)ctT>ctA	p.L70L	FCER1A_ENST00000368114.1_Silent_p.L37L	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	70	Ig-like 1.				activation of JUN kinase activity (GO:0007257)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leukotriene biosynthetic process (GO:0019370)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of type I hypersensitivity (GO:0001812)|serotonin secretion (GO:0001820)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	IgE receptor activity (GO:0019767)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	ATGGCAGCCTTTCAGAAGAGA	0.368																																						ENST00000368115.1	1.000000	0.860000	1.000000	0.990000	0.990000	0.989658	0.990000	1.000000																										0				33						c.(208-210)ctT>ctA		Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)						73.0	72.0	72.0					1																	159273851		2203	4300	6503	SO:0001819	synonymous_variant	2205	0	0					g.chr1:159273851T>A	BC015195	CCDS1184.1	1q23	2013-01-11			ENSG00000179639	ENSG00000179639		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3609	protein-coding gene	gene with protein product		147140		FCE1A		8245459	Standard	NM_002001		Approved		uc001ftq.3	P12319	OTTHUMG00000037176	ENST00000368115.1:c.210T>A	chr1.hg19:g.159273851T>A		0					FCER1A_ENST00000368114.1_Silent_p.L37L	p.L70L	NM_002001.3	NP_001992.1	1	2	3	2.051566	P12319	FCERA_HUMAN		4	309	+	all_hematologic(112;0.0429)			Silent	SNP	ENST00000368115.1	1	1	hg19	c.210T>A	CCDS1184.1	1																																																																																								0.164678		TCGA-IB-7885-01A-11D-2154-08	0.368	FCER1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090328.2	1	0	1		2	2	2	0		0	0	84		84	84	1	1.730000	-20.000000	1	0.160000	NM_002001			36	36		343	337	1		1	0	0	0	0	84	0		1.000000	2.904795e-01	0	0	0	11	1	36	343
OSBPL9	114883	broad.mit.edu	37	1	52249642	52249642	+	Missense_Mutation	SNP	C	C	G	rs61743086	byFrequency	TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08			C	G	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:52249642C>G	ENST00000428468.1	+	18	1571	c.1569C>G	c.(1567-1569)atC>atG	p.I523M	OSBPL9_ENST00000486942.1_Missense_Mutation_p.I345M|OSBPL9_ENST00000371710.3_Missense_Mutation_p.I541M|OSBPL9_ENST00000447887.1_Missense_Mutation_p.I533M|OSBPL9_ENST00000462759.1_Missense_Mutation_p.I345M|OSBPL9_ENST00000337809.4_Missense_Mutation_p.I528M|OSBPL9_ENST00000453295.1_Missense_Mutation_p.I506M|OSBPL9_ENST00000531828.1_Missense_Mutation_p.I358M|OSBPL9_ENST00000361556.5_Missense_Mutation_p.I413M|OSBPL9_ENST00000371714.1_Missense_Mutation_p.I510M|OSBPL9_ENST00000530544.1_Missense_Mutation_p.I442M|OSBPL9_ENST00000435686.2_Missense_Mutation_p.I358M			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	523					lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						ATGCTCATATCTGGACCAAAT	0.368																																						ENST00000428468.1	1.000000	0.420000	0.860000	0.540000	0.680000	0.700700	0.680000	1.000000																										0				18						c.(1567-1569)atC>atG		oxysterol binding protein-like 9							92.0	91.0	92.0					1																	52249642		2203	4300	6503	SO:0001583	missense	114883	0	0					g.chr1:52249642C>G	AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16386	protein-coding gene	gene with protein product		606737					Standard	NM_148904		Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234	ENST00000428468.1:c.1569C>G	chr1.hg19:g.52249642C>G	ENSP00000407168:p.Ile523Met	0					OSBPL9_ENST00000462759.1_Missense_Mutation_p.I345M|OSBPL9_ENST00000447887.1_Missense_Mutation_p.I533M|OSBPL9_ENST00000453295.1_Missense_Mutation_p.I506M|OSBPL9_ENST00000371710.3_Missense_Mutation_p.I541M|OSBPL9_ENST00000486942.1_Missense_Mutation_p.I345M|OSBPL9_ENST00000531828.1_Missense_Mutation_p.I358M|OSBPL9_ENST00000371714.1_Missense_Mutation_p.I510M|OSBPL9_ENST00000337809.4_Missense_Mutation_p.I528M|OSBPL9_ENST00000361556.5_Missense_Mutation_p.I413M|OSBPL9_ENST00000530544.1_Missense_Mutation_p.I442M|OSBPL9_ENST00000435686.2_Missense_Mutation_p.I358M	p.I523M			1	2	3	2.045242	Q96SU4	OSBL9_HUMAN		18	1571	+			B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Missense_Mutation	SNP	ENST00000428468.1	1	1	hg19	c.1569C>G	CCDS41332.3	0	.	.	.	.	.	.	.	.	.	.	C	16.28	3.078450	0.55753	.	.	ENSG00000117859	ENST00000371714;ENST00000371710;ENST00000337809;ENST00000447887;ENST00000435686;ENST00000428468;ENST00000453295;ENST00000530544;ENST00000531828;ENST00000361556;ENST00000462759;ENST00000486942	T;T;T;T;T;T;T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44	5.24	4.27	0.50696	5.24	4.27	0.50696	.	0.000000	0.85682	D	0.000000	T	0.65037	0.2653	M	0.93594	3.435	0.58432	D	0.999993	D;D;D;D;D	0.76494	0.996;0.991;0.996;0.993;0.999	D;D;D;D;D	0.78314	0.991;0.952;0.969;0.969;0.984	T	0.76353	-0.2990	10	0.87932	D	0	-10.3454	14.7454	0.69488	0.2284:0.7716:0.0:0.0	.	506;413;539;523;528	Q86YQ3;Q96SU4-3;B1AKJ7;Q96SU4;B1AKJ6	.;.;.;OSBL9_HUMAN;.	M	510;541;528;533;358;523;506;442;358;413;345;345	ENSP00000360779:I510M;ENSP00000360775:I541M;ENSP00000337265:I528M;ENSP00000412733:I533M;ENSP00000402646:I358M;ENSP00000407168:I523M;ENSP00000413263:I506M;ENSP00000433675:I442M;ENSP00000433083:I358M;ENSP00000354970:I413M;ENSP00000433279:I345M;ENSP00000431980:I345M	ENSP00000337265:I528M	I	+	3	3	3	OSBPL9	52022230	52022230	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.768000	0.26590	1.362000	0.46000	0.555000	0.69702	ATC	0.163347		TCGA-IB-7885-01A-11D-2154-08	0.368	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022584.4	1	0	0		2	2	2	0		0	0	80		80	80	1	1.730000	-5.424052	1	0.160000				19	18		337	330	0		1	1		0	0	80	0		0.999989	9.974191e-01	0	14	0	157	0	19	337
OSBPL9	114883	broad.mit.edu	37	1	52249653	52249653	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:52249653C>T	ENST00000428468.1	+	18	1582	c.1580C>T	c.(1579-1581)tCa>tTa	p.S527L	OSBPL9_ENST00000486942.1_Missense_Mutation_p.S349L|OSBPL9_ENST00000371710.3_Missense_Mutation_p.S545L|OSBPL9_ENST00000447887.1_Missense_Mutation_p.S537L|OSBPL9_ENST00000462759.1_Missense_Mutation_p.S349L|OSBPL9_ENST00000337809.4_Missense_Mutation_p.S532L|OSBPL9_ENST00000453295.1_Missense_Mutation_p.S510L|OSBPL9_ENST00000531828.1_Missense_Mutation_p.S362L|OSBPL9_ENST00000361556.5_Missense_Mutation_p.S417L|OSBPL9_ENST00000371714.1_Missense_Mutation_p.S514L|OSBPL9_ENST00000530544.1_Missense_Mutation_p.S446L|OSBPL9_ENST00000435686.2_Missense_Mutation_p.S362L			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	527					lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						TGGACCAAATCAAAATTCCTT	0.348																																						ENST00000428468.1	1.000000	0.330000	0.740000	0.440000	0.560000	0.593653	0.560000	0.550000																										0				18						c.(1579-1581)tCa>tTa		oxysterol binding protein-like 9							89.0	88.0	89.0					1																	52249653		2203	4300	6503	SO:0001583	missense	114883	0	0					g.chr1:52249653C>T	AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16386	protein-coding gene	gene with protein product		606737					Standard	NM_148904		Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234	ENST00000428468.1:c.1580C>T	chr1.hg19:g.52249653C>T	ENSP00000407168:p.Ser527Leu	0					OSBPL9_ENST00000462759.1_Missense_Mutation_p.S349L|OSBPL9_ENST00000447887.1_Missense_Mutation_p.S537L|OSBPL9_ENST00000453295.1_Missense_Mutation_p.S510L|OSBPL9_ENST00000371710.3_Missense_Mutation_p.S545L|OSBPL9_ENST00000486942.1_Missense_Mutation_p.S349L|OSBPL9_ENST00000531828.1_Missense_Mutation_p.S362L|OSBPL9_ENST00000371714.1_Missense_Mutation_p.S514L|OSBPL9_ENST00000337809.4_Missense_Mutation_p.S532L|OSBPL9_ENST00000361556.5_Missense_Mutation_p.S417L|OSBPL9_ENST00000530544.1_Missense_Mutation_p.S446L|OSBPL9_ENST00000435686.2_Missense_Mutation_p.S362L	p.S527L			1	2	3	2.045242	Q96SU4	OSBL9_HUMAN		18	1582	+			B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Missense_Mutation	SNP	ENST00000428468.1	1	1	hg19	c.1580C>T	CCDS41332.3	0	.	.	.	.	.	.	.	.	.	.	C	33	5.236229	0.95240	.	.	ENSG00000117859	ENST00000371714;ENST00000371710;ENST00000337809;ENST00000447887;ENST00000435686;ENST00000428468;ENST00000453295;ENST00000530544;ENST00000531828;ENST00000361556;ENST00000462759;ENST00000486942	T;T;T;T;T;T;T;T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44;1.44	5.24	5.24	0.73138	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.60534	0.2276	M	0.80332	2.49	0.80722	D	1	D;D;D;D;D	0.89917	0.994;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.985;0.997;0.994;0.997;0.999	T	0.64753	-0.6333	10	0.87932	D	0	-18.1822	19.0133	0.92882	0.0:1.0:0.0:0.0	.	510;417;543;527;532	Q86YQ3;Q96SU4-3;B1AKJ7;Q96SU4;B1AKJ6	.;.;.;OSBL9_HUMAN;.	L	514;545;532;537;362;527;510;446;362;417;349;349	ENSP00000360779:S514L;ENSP00000360775:S545L;ENSP00000337265:S532L;ENSP00000412733:S537L;ENSP00000402646:S362L;ENSP00000407168:S527L;ENSP00000413263:S510L;ENSP00000433675:S446L;ENSP00000433083:S362L;ENSP00000354970:S417L;ENSP00000433279:S349L;ENSP00000431980:S349L	ENSP00000337265:S532L	S	+	2	0	0	OSBPL9	52022241	52022241	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.576000	0.82467	2.729000	0.93468	0.555000	0.69702	TCA	0.163347		TCGA-IB-7885-01A-11D-2154-08	0.348	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022584.4	1	0	0		2	2	2	0		0	0	81		81	81	1	1.730000	-3.297894	1	0.160000				16	15		346	338	0		1	1		0	0	81	0		0.999923	9.968445e-01	0	13	0	192	0	16	346
OSBPL9	114883	broad.mit.edu	37	1	52249970	52249970	+	Silent	SNP	C	C	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:52249970C>T	ENST00000428468.1	+	19	1661	c.1659C>T	c.(1657-1659)taC>taT	p.Y553Y	OSBPL9_ENST00000486942.1_Silent_p.Y375Y|OSBPL9_ENST00000371710.3_Silent_p.Y571Y|OSBPL9_ENST00000447887.1_Silent_p.Y563Y|OSBPL9_ENST00000462759.1_Silent_p.Y375Y|OSBPL9_ENST00000337809.4_Silent_p.Y558Y|OSBPL9_ENST00000453295.1_Silent_p.Y536Y|OSBPL9_ENST00000531828.1_Silent_p.Y388Y|OSBPL9_ENST00000361556.5_Silent_p.Y443Y|OSBPL9_ENST00000371714.1_Silent_p.Y540Y|OSBPL9_ENST00000530544.1_Silent_p.Y472Y|OSBPL9_ENST00000435686.2_Silent_p.Y388Y			Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	553					lipid transport (GO:0006869)	cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						ATGAACATTACATTCTCACAT	0.488																																						ENST00000428468.1	1.000000	0.860000	1.000000	0.990000	0.990000	0.989262	0.990000	1.000000																										0				18						c.(1657-1659)taC>taT		oxysterol binding protein-like 9							217.0	185.0	195.0					1																	52249970		2203	4300	6503	SO:0001819	synonymous_variant	114883	0	0					g.chr1:52249970C>T	AF392445	CCDS558.1, CCDS41332.1, CCDS41333.1, CCDS41334.1, CCDS41332.2, CCDS41332.3, CCDS41333.2, CCDS44145.1, CCDS55598.1	1p32.3	2013-01-10			ENSG00000117859	ENSG00000117859		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16386	protein-coding gene	gene with protein product		606737					Standard	NM_148904		Approved		uc001csu.3	Q96SU4	OTTHUMG00000008234	ENST00000428468.1:c.1659C>T	chr1.hg19:g.52249970C>T		0					OSBPL9_ENST00000462759.1_Silent_p.Y375Y|OSBPL9_ENST00000447887.1_Silent_p.Y563Y|OSBPL9_ENST00000453295.1_Silent_p.Y536Y|OSBPL9_ENST00000371710.3_Silent_p.Y571Y|OSBPL9_ENST00000486942.1_Silent_p.Y375Y|OSBPL9_ENST00000531828.1_Silent_p.Y388Y|OSBPL9_ENST00000371714.1_Silent_p.Y540Y|OSBPL9_ENST00000337809.4_Silent_p.Y558Y|OSBPL9_ENST00000361556.5_Silent_p.Y443Y|OSBPL9_ENST00000530544.1_Silent_p.Y472Y|OSBPL9_ENST00000435686.2_Silent_p.Y388Y	p.Y553Y			1	2	3	2.045242	Q96SU4	OSBL9_HUMAN		19	1661	+			B1AKJ8|B3KPQ4|D3DQ31|Q5TFC0|Q6IA67|Q86YQ3|Q8NB17|Q8TAS8|Q96SK4|Q9H9X2	Silent	SNP	ENST00000428468.1	1	1	hg19	c.1659C>T	CCDS41332.3	1																																																																																								0.163347		TCGA-IB-7885-01A-11D-2154-08	0.488	OSBPL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022584.4	1	0	1		2	2	2	0		0	0	140		140	139	1	1.730000	-14.003430	1	0.160000				47	46		464	453	0		1	1		0	0	140	0		1.000000	9.999991e-01	0	8	0	194	0	47	464
SEC16B	89866	broad.mit.edu	37	1	177934213	177934213	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr1:177934213G>C	ENST00000308284.6	-	4	591	c.502C>G	c.(502-504)Cca>Gca	p.P168A	RP4-798P15.3_ENST00000354921.3_RNA|SEC16B_ENST00000464631.2_Missense_Mutation_p.P168A	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	168	Required for endoplasmic reticulum localization.				COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GTTCCAAATGGACTGTGCTGG	0.448																																						ENST00000308284.6	1.000000	0.360000	1.000000	0.570000	0.860000	0.810494	0.860000	1.000000																										0				35						c.(502-504)Cca>Gca		SEC16 homolog B (S. cerevisiae)							117.0	114.0	115.0					1																	177934213		1930	4138	6068	SO:0001583	missense	89866	0	0					g.chr1:177934213G>C	AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.502C>G	chr1.hg19:g.177934213G>C	ENSP00000308339:p.Pro168Ala	0					SEC16B_ENST00000464631.2_Missense_Mutation_p.P168A|RP4-798P15.3_ENST00000354921.3_RNA	p.P168A	NM_033127.2	NP_149118.2	1	2	3	2.051566	Q96JE7	SC16B_HUMAN		4	591	-			A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Missense_Mutation	SNP	ENST00000308284.6	0	1	hg19	c.502C>G	CCDS44281.1	1	.	.	.	.	.	.	.	.	.	.	G	9.492	1.100919	0.20552	.	.	ENSG00000120341	ENST00000308284;ENST00000464631	T;T	0.44482	2.51;0.92	5.49	-8.05	0.01106	5.49	-8.05	0.01106	.	1.562370	0.03228	N	0.178526	T	0.26412	0.0645	L	0.50333	1.59	0.09310	N	1	B;B;B	0.25563	0.129;0.055;0.055	B;B;B	0.21151	0.033;0.03;0.03	T	0.16394	-1.0404	10	0.15066	T	0.55	5.5521	1.2287	0.01939	0.4395:0.1985:0.1517:0.2103	.	168;168;168	E9PK14;B1AM08;Q96JE7	.;.;SC16B_HUMAN	A	168	ENSP00000308339:P168A;ENSP00000431727:P168A	ENSP00000308339:P168A	P	-	1	0	0	AL359075.1	176200836	176200836	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.828000	0.04419	-1.710000	0.01397	-0.909000	0.02823	CCA	0.164678		TCGA-IB-7885-01A-11D-2154-08	0.448	SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	1	0	1		2	2	2	0		0	0	21		21	21	1	1.730000	-10.253800	1	0.160000	NM_033127			6	6		87	87	0		1	1		0	0	21	0		0.966631	7.178126e-02	0	3	0	3	0	6	87
ZSWIM3	140831	broad.mit.edu	37	20	44506266	44506266	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr20:44506266G>A	ENST00000255152.2	+	2	1278	c.1069G>A	c.(1069-1071)Gta>Ata	p.V357I	ZSWIM3_ENST00000454862.2_Missense_Mutation_p.V351I	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	357							zinc ion binding (GO:0008270)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				GTCCCAGGCCGTACTGGATGA	0.522																																						ENST00000255152.2	1.000000	0.450000	0.950000	0.570000	0.720000	0.746403	0.720000	1.000000																										0				35						c.(1069-1071)Gta>Ata		zinc finger, SWIM-type containing 3							73.0	70.0	71.0					20																	44506266		2203	4300	6503	SO:0001583	missense	140831	0	0					g.chr20:44506266G>A	AL008726	CCDS13381.1	20q13.12	2014-06-13	2003-12-17	2003-12-19	ENSG00000132801	ENSG00000132801		"""Zinc fingers, SWIM-type"""	16157	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 174"""		"""chromosome 20 open reading frame 164"""	C20orf164			Standard	NM_080752		Approved	dJ337O18.7, PPP1R174	uc002xqd.3	Q96MP5	OTTHUMG00000032627	ENST00000255152.2:c.1069G>A	chr20.hg19:g.44506266G>A	ENSP00000255152:p.Val357Ile	0					ZSWIM3_ENST00000454862.2_Missense_Mutation_p.V351I	p.V357I	NM_080752.3	NP_542790.2	1	2	3	2.063923	Q96MP5	ZSWM3_HUMAN		2	1278	+		Myeloproliferative disorder(115;0.0122)	Q9BR13	Missense_Mutation	SNP	ENST00000255152.2	1	1	hg19	c.1069G>A	CCDS13381.1	0	.	.	.	.	.	.	.	.	.	.	g	3.393	-0.123988	0.06795	.	.	ENSG00000132801	ENST00000255152;ENST00000454862	T;T	0.21734	2.01;1.99	5.65	2.64	0.31445	5.65	2.64	0.31445	.	0.413487	0.22779	N	0.055752	T	0.09555	0.0235	N	0.14661	0.345	0.09310	N	1	B;B	0.24882	0.048;0.113	B;B	0.13407	0.006;0.009	T	0.33854	-0.9852	10	0.16896	T	0.51	-3.9801	6.6767	0.23098	0.12:0.4609:0.3521:0.067	.	351;357	E7ETT6;Q96MP5	.;ZSWM3_HUMAN	I	357;351	ENSP00000255152:V357I;ENSP00000406313:V351I	ENSP00000255152:V357I	V	+	1	0	0	ZSWIM3	43939673	43939673	0.000000	0.05858	0.265000	0.24526	0.985000	0.73830	-0.175000	0.09825	0.464000	0.27142	-0.123000	0.14984	GTA	0.167328		TCGA-IB-7885-01A-11D-2154-08	0.522	ZSWIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079540.1	1	0	1		2	2	2	0		0	0	78		78	78	1	1.730000	-2.807658	1	0.160000	NM_080752			20	20		338	336	0		1	0		0	0	78	0		0.999995	1.538057e-01	0	0	0	12	0	20	338
RTEL1	51750	broad.mit.edu	37	20	62292776	62292776	+	Silent	SNP	G	G	A	rs116624637		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr20:62292776G>A	ENST00000360203.5	+	3	553	c.228G>A	c.(226-228)gcG>gcA	p.A76A	RTEL1_ENST00000488316.1_3'UTR|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.A76A|RTEL1_ENST00000318100.4_Silent_p.A76A|RTEL1_ENST00000508582.2_Silent_p.A76A|RTEL1_ENST00000370018.3_Silent_p.A76A					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CCGAGAGGGCGCAAGGAGAGC	0.637																																						ENST00000360203.5	1.000000	0.430000	1.000000	0.570000	0.750000	0.767260	0.750000	1.000000																										0				24						c.(226-228)gcG>gcA		regulator of telomere elongation helicase 1							70.0	64.0	66.0					20																	62292776		2203	4300	6503	SO:0001819	synonymous_variant	51750	2	121410	35				g.chr20:62292776G>A	AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"""chromosome 20 open reading frame 41"""	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.228G>A	chr20.hg19:g.62292776G>A		0					RTEL1_ENST00000370018.3_Silent_p.A76A|RTEL1_ENST00000508582.2_Silent_p.A76A|RTEL1_ENST00000318100.4_Silent_p.A76A|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.A76A|RTEL1_ENST00000488316.1_3'UTR	p.A76A			1	2	3	2.063923			Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)	3	553	+	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)			Silent	SNP	ENST00000360203.5	1	1	hg19	c.228G>A		0																																																																																								0.167328		TCGA-IB-7885-01A-11D-2154-08	0.637	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000289781.1	1	0	1		2	2	2	0		0	0	56		56	55	1	1.730000	-16.926990	1	0.160000	NM_032957			14	14		229	227	0		1	0		0	0	56	0		0.999760	1.664135e-01	0	0	0	12	0	14	229
SNAP29	9342	broad.mit.edu	37	22	21213614	21213614	+	Silent	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr22:21213614G>A	ENST00000215730.7	+	1	344	c.216G>A	c.(214-216)aaG>aaA	p.K72K	PI4KA_ENST00000255882.6_5'Flank|PI4KA_ENST00000572273.1_5'Flank	NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	synaptosomal-associated protein, 29kDa	72					autophagic vacuole fusion (GO:0000046)|exocytosis (GO:0006887)|membrane fusion (GO:0061025)|protein transport (GO:0015031)|vesicle targeting (GO:0006903)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|SNARE complex (GO:0031201)|synapse (GO:0045202)	SNAP receptor activity (GO:0005484)			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)			AGTCCGAGAAGGTTGGGGTCG	0.637																																						ENST00000215730.7	1.000000	0.500000	1.000000	0.700000	0.950000	0.883533	0.950000	1.000000																										0				9						c.(214-216)aaG>aaA		synaptosomal-associated protein, 29kDa							26.0	27.0	27.0					22																	21213614		2200	4295	6495	SO:0001819	synonymous_variant	9342	0	0					g.chr22:21213614G>A	AF115436	CCDS13784.1	22q11.21	2008-06-10	2002-08-29		ENSG00000099940	ENSG00000099940			11133	protein-coding gene	gene with protein product	"""soluble 29 kDa NSF attachment protein"""	604202	"""synaptosomal-associated protein, 29kD"""			9852078, 10591208	Standard	NM_004782		Approved	SNAP-29, CEDNIK	uc011ahw.2	O95721	OTTHUMG00000150765	ENST00000215730.7:c.216G>A	chr22.hg19:g.21213614G>A		0					PI4KA_ENST00000255882.6_5'Flank|PI4KA_ENST00000572273.1_5'Flank	p.K72K	NM_004782.3	NP_004773.1	0	1	1	2.035408	O95721	SNP29_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)	1	344	+	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)		Silent	SNP	ENST00000215730.7	1	1	hg19	c.216G>A	CCDS13784.1	1																																																																																								0.155270		TCGA-IB-7885-01A-11D-2154-08	0.637	SNAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320000.4	0	0	1		2	2	2	0		0	0	42		42	40	1	1.730000	-3.222820	1	0.160000	NM_004782			10	10		120	118	0		1	1		0	0	42	0		0.997019	8.682270e-01	0	10	0	36	0	10	120
EP300	2033	broad.mit.edu	37	22	41533755	41533755	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr22:41533755A>G	ENST00000263253.7	+	8	2940	c.1721A>G	c.(1720-1722)gAt>gGt	p.D574G		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	574	KIX. {ECO:0000255|PROSITE- ProRule:PRU00311}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TGGCACGAAGATATTACTCAG	0.438			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7	1.000000	0.670000	1.000000	0.810000	0.970000	0.924872	0.970000	1.000000				Rec	yes			Rec	yes		22	22q13	22q13	2033	T,  N, F, Mis, O	300 kd E1A-Binding protein gene				"""L, E"""	L, E	MLL, RUNXBP2		colorectal, breast, pancreatic, AML, ALL, DLBCL		0				171						c.(1720-1722)gAt>gGt		E1A binding protein p300							112.0	94.0	100.0					22																	41533755		2203	4300	6503	SO:0001583	missense	2033	0	0		Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	g.chr22:41533755A>G	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.1721A>G	chr22.hg19:g.41533755A>G	ENSP00000263253:p.Asp574Gly	0						p.D574G	NM_001429.3	NP_001420.2	0	0	0	2.026679	Q09472	EP300_HUMAN		8	2940	+			B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	1	1	hg19	c.1721A>G	CCDS14010.1	1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.391655	0.83011	.	.	ENSG00000100393	ENST00000263253	D	0.83591	-1.74	5.85	5.85	0.93711	5.85	5.85	0.93711	Coactivator CBP, KIX (4);	0.000000	0.47852	D	0.000203	T	0.77870	0.4195	N	0.03608	-0.345	0.54753	D	0.999982	P	0.46987	0.888	P	0.58620	0.842	T	0.78183	-0.2303	10	0.20046	T	0.44	-11.8926	16.2444	0.82434	1.0:0.0:0.0:0.0	.	574	Q09472	EP300_HUMAN	G	574	ENSP00000263253:D574G	ENSP00000263253:D574G	D	+	2	0	0	EP300	39863701	39863701	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	2.233000	0.73108	0.455000	0.32223	GAT	0.149109		TCGA-IB-7885-01A-11D-2154-08	0.438	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	1	0	1		2	2	2	0		0	0	66		66	66	1	1.730000	-20.000000	1	0.160000	NM_001429			29	29		338	324	1		1	1		0	0	66	0		1.000000	8.226205e-01	0	8	0	31	0	29	338
TPO	7173	broad.mit.edu	37	2	1497799	1497799	+	Missense_Mutation	SNP	G	G	A	rs140124953		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:1497799G>A	ENST00000345913.4	+	11	2085	c.1994G>A	c.(1993-1995)cGg>cAg	p.R665Q	TPO_ENST00000346956.3_Missense_Mutation_p.R665Q|TPO_ENST00000382201.3_Missense_Mutation_p.R608Q|TPO_ENST00000337415.3_Missense_Mutation_p.R665Q|TPO_ENST00000329066.4_Missense_Mutation_p.R665Q|TPO_ENST00000382198.1_Missense_Mutation_p.R492Q|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000349624.3_Missense_Mutation_p.R492Q	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	665			R -> W (in TDH2A; fails to localize to the plasma membrane). {ECO:0000269|PubMed:11916616}.		cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	AAGGCTCTGCGGGACGGTGAC	0.577																																						ENST00000345913.4	1.000000	0.680000	1.000000	0.850000	0.990000	0.946472	0.990000	1.000000																										0				95	GRCh37	CM035088	TPO	M	rs140124953	c.(1993-1995)cGg>cAg		thyroid peroxidase	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	89.0	85.0	86.0		1994,1994,1823,1823,1994,1475	4.8	1.0	2	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense	TPO	NM_000547.5,NM_001206744.1,NM_001206745.1,NM_175719.3,NM_175721.3,NM_175722.3	43,43,43,43,43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	665/934,665/934,608/877,608/877,665/890,492/761	1497799	1,13005	2203	4300	6503	SO:0001583	missense	7173	3	121410	35				g.chr2:1497799G>A		CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.1994G>A	chr2.hg19:g.1497799G>A	ENSP00000318820:p.Arg665Gln	0					TPO_ENST00000382198.1_Missense_Mutation_p.R492Q|TPO_ENST00000329066.4_Missense_Mutation_p.R665Q|TPO_ENST00000382201.3_Missense_Mutation_p.R608Q|TPO_ENST00000337415.3_Missense_Mutation_p.R665Q|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000349624.3_Missense_Mutation_p.R492Q|TPO_ENST00000346956.3_Missense_Mutation_p.R665Q	p.R665Q	NM_000547.5	NP_000538.3	1	2	3	2.049419	P07202	PERT_HUMAN		11	2085	+	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	ENST00000345913.4	1	1	hg19	c.1994G>A	CCDS1643.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.5|21.5	4.152346|4.152346	0.78001|0.78001	0.0|0.0	1.16E-4|1.16E-4	ENSG00000115705|ENSG00000115705	ENST00000446278|ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000382198;ENST00000422464;ENST00000469607	.|T;T;T;T;T;T;T;T;T	.|0.72282	.|-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64;-0.64	4.84|4.84	4.84|4.84	0.62591|0.62591	4.84|4.84	4.84|4.84	0.62591|0.62591	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.85643|0.85643	0.5744|0.5744	M|M	0.82716|0.82716	2.605|2.605	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|1.0;0.999;0.999;1.0	D|D	0.88101|0.88101	0.2819|0.2819	5|10	.|0.87932	.|D	.|0	-34.9581|-34.9581	18.3104|18.3104	0.90197|0.90197	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|665;492;608;665	.|P07202-4;P07202-5;P07202-2;P07202	.|.;.;.;PERT_HUMAN	R|Q	140|665;665;665;492;665;608;492;594;139	.|ENSP00000337263:R665Q;ENSP00000318820:R665Q;ENSP00000263886:R665Q;ENSP00000332044:R492Q;ENSP00000329869:R665Q;ENSP00000371636:R608Q;ENSP00000371633:R492Q;ENSP00000405788:R594Q;ENSP00000419461:R139Q	.|ENSP00000329869:R665Q	G|R	+|+	1|2	0|0	0|0	TPO|TPO	1476806|1476806	1476806|1476806	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.175000|0.175000	0.22909|0.22909	7.143000|7.143000	0.77348|0.77348	2.399000|2.399000	0.81585|0.81585	0.561000|0.561000	0.74099|0.74099	GGG|CGG	0.164013		TCGA-IB-7885-01A-11D-2154-08	0.577	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206594.2	0	0	1		2	2	2	0		0	0	88		88	88	1	1.730000	-2.429493	0	0.160000	NM_000547			24	24		268	266	0		1	0		0	0	88	0		1.000000	3.969151e-02	0	0	0	4	0	24	268
SMPD4	55627	broad.mit.edu	37	2	130921950	130921950	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:130921950G>C	ENST00000452225.2	-	4	357	c.119C>G	c.(118-120)cCa>cGa	p.P40R	SMPD4_ENST00000351288.6_Silent_p.A326A|SMPD4_ENST00000443958.2_Silent_p.A19A|SMPD4_ENST00000431183.2_Silent_p.A253A|SMPD4_ENST00000339679.7_Silent_p.A213A|SMPD4_ENST00000426662.2_Missense_Mutation_p.P40R|SMPD4_ENST00000409031.1_Silent_p.A326A|SMPD4_ENST00000473720.1_5'UTR|SMPD4_ENST00000453750.1_Silent_p.A104A			Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	0					cellular response to tumor necrosis factor (GO:0071356)|ceramide biosynthetic process (GO:0046513)|glycerophospholipid catabolic process (GO:0046475)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)|sphingomyelin phosphodiesterase D activity (GO:0050290)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	AACATACCTTGGCATGAGGGG	0.448																																						ENST00000452225.2	1.000000	0.150000	0.530000	0.230000	0.350000	0.404076	0.350000	0.330000																										0				29						c.(118-120)cCa>cGa		sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	Phosphatidylserine(DB00144)						125.0	102.0	110.0					2																	130921950		2203	4300	6503	SO:0001583	missense	55627	0	0					g.chr2:130921950G>C	AF052134	CCDS2156.2, CCDS42751.1, CCDS54398.1	2q21.1	2009-11-06			ENSG00000136699	ENSG00000136699			32949	protein-coding gene	gene with protein product		610457				16517606	Standard	NM_001171083		Approved	FLJ20297, FLJ20756, nSMase-3, KIAA1418, NSMASE3, NET13	uc002tqr.2	Q9NXE4	OTTHUMG00000131624	ENST00000452225.2:c.119C>G	chr2.hg19:g.130921950G>C	ENSP00000387762:p.Pro40Arg	0					SMPD4_ENST00000339679.7_Silent_p.A213A|SMPD4_ENST00000443958.2_Silent_p.A19A|SMPD4_ENST00000409031.1_Silent_p.A326A|SMPD4_ENST00000453750.1_Silent_p.A104A|SMPD4_ENST00000351288.6_Silent_p.A326A|SMPD4_ENST00000426662.2_Missense_Mutation_p.P40R|SMPD4_ENST00000431183.2_Silent_p.A253A|SMPD4_ENST00000473720.1_5'UTR	p.P40R			1	2	3	2.054193	Q9NXE4	NSMA3_HUMAN		4	357	-	Colorectal(110;0.1)		B4DM23|B4DQ31|B4DRB8|B4DWK7|B4E0L6|E7ESA2|E9PCE6|Q6FI76|Q6P1P7|Q6ZT43|Q9H0M2|Q9NW20|Q9NWL2|Q9P2C9	Missense_Mutation	SNP	ENST00000452225.2	0	1	hg19	c.119C>G		0	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	4.526|4.526	0.097659|0.097659	0.08681|0.08681	.|.	.|.	ENSG00000136699|ENSG00000136699	ENST00000439886;ENST00000452225;ENST00000426662|ENST00000430682	.|.	.|.	.|.	4.17|4.17	3.28|3.28	0.37604|0.37604	4.17|4.17	3.28|3.28	0.37604|0.37604	.|.	.|.	.|.	.|.	.|.	T|T	0.53932|0.53932	0.1827|0.1827	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	B;P|.	0.41131|.	0.035;0.739|.	B;B|.	0.33121|.	0.017;0.158|.	T|T	0.47156|0.47156	-0.9139|-0.9139	7|4	0.41790|.	T|.	0.15|.	.|.	5.3514|5.3514	0.16038|0.16038	0.1079:0.0:0.6939:0.1982|0.1079:0.0:0.6939:0.1982	.|.	40;40|.	B4E0L6;B4DQ31|.	.;.|.	R|E	155;40;40|116	.|.	ENSP00000397479:P40R|.	P|Q	-|-	2|1	0|0	0|0	SMPD4|SMPD4	130638420|130638420	130638420|130638420	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.941000|0.941000	0.58515|0.58515	0.994000|0.994000	0.29693|0.29693	0.733000|0.733000	0.32492|0.32492	0.557000|0.557000	0.71058|0.71058	CCA|CAA	0.165342		TCGA-IB-7885-01A-11D-2154-08	0.448	SMPD4-205	KNOWN	basic	protein_coding	protein_coding		0	0	1		14	5	2	1		1	1	71		71	71	1	1.730000	-7.823359	1	0.160000	NM_017751			7	7		263	260	0		0	0		1	0	71	0		0.084692	5.227636e-02	0	1	0	61	0	7	263
GTF2A1L	11036	broad.mit.edu	37	2	48873884	48873884	+	Silent	SNP	C	C	T	rs189414722		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:48873884C>T	ENST00000403751.3	+	6	718	c.681C>T	c.(679-681)atC>atT	p.I227I	GTF2A1L_ENST00000430487.2_Silent_p.I193I|STON1-GTF2A1L_ENST00000394754.1_Silent_p.I931I|STON1-GTF2A1L_ENST00000309827.2_Silent_p.I931I|STON1-GTF2A1L_ENST00000402114.2_Silent_p.I931I|STON1-GTF2A1L_ENST00000394751.3_Silent_p.I884I|STON1-GTF2A1L_ENST00000405008.1_Silent_p.I931I|LHCGR_ENST00000420913.3_Intron	NM_006872.3	NP_006863.2	Q9UNN4	TF2AY_HUMAN	general transcription factor IIA, 1-like	227					cognition (GO:0050890)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			lung(7)	7		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGCATAAAATCGTGCCTGAAG	0.413													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20202	0.0		0.0	False		,,,				2504	0.0					ENST00000403751.3	1.000000	0.420000	0.850000	0.530000	0.670000	0.694075	0.670000	0.660000																										0				7						c.(679-681)atC>atT		general transcription factor IIA, 1-like							120.0	108.0	112.0					2																	48873884		2203	4300	6503	SO:0001819	synonymous_variant	11036	2	121412	36				g.chr2:48873884C>T	AF106857	CCDS46281.1, CCDS54359.1	2p16.3	2007-08-02			ENSG00000242441	ENSG00000242441			30727	protein-coding gene	gene with protein product	"""TFIIA alpha/beta like factor"""	605358				10364255, 11889132, 16525715	Standard	NM_006872		Approved	ALF		Q9UNN4	OTTHUMG00000152038	ENST00000403751.3:c.681C>T	chr2.hg19:g.48873884C>T		0					STON1-GTF2A1L_ENST00000394751.3_Silent_p.I884I|LHCGR_ENST00000420913.3_Intron|STON1-GTF2A1L_ENST00000405008.1_Silent_p.I931I|GTF2A1L_ENST00000430487.2_Silent_p.I193I|STON1-GTF2A1L_ENST00000394754.1_Silent_p.I931I|STON1-GTF2A1L_ENST00000402114.2_Silent_p.I931I|STON1-GTF2A1L_ENST00000309827.2_Silent_p.I931I	p.I227I	NM_006872.3	NP_006863.2	1	2	3	2.049419	Q9UNN4	TF2AY_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)	6	718	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	B4DY14|Q53FD9|Q5D050	Silent	SNP	ENST00000403751.3	1	1	hg19	c.681C>T	CCDS46281.1	0																																																																																								0.164013		TCGA-IB-7885-01A-11D-2154-08	0.413	GTF2A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323852.4	1	0	1		2	2	2	0		0	0	82		82	82	1	1.730000	-3.142702	1	0.160000	NM_006872			21	21		378	373	0		1	0		0	0	82	0		0.999997	2.782107e-02	0	0	0	5	0	21	378
PARD3B	117583	broad.mit.edu	37	2	205829959	205829959	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr2:205829959G>A	ENST00000406610.2	+	3	514	c.307G>A	c.(307-309)Gct>Act	p.A103T	PARD3B_ENST00000462231.1_Missense_Mutation_p.A103T|PARD3B_ENST00000358768.2_Missense_Mutation_p.A103T|PARD3B_ENST00000349953.3_Missense_Mutation_p.A103T|PARD3B_ENST00000351153.1_Missense_Mutation_p.A103T	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	103					cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		GAGCCCAGATGCTTTTGAGAC	0.478																																						ENST00000406610.2	1.000000	0.470000	1.000000	0.620000	0.810000	0.806768	0.810000	1.000000																										0				65						c.(307-309)Gct>Act		par-3 family cell polarity regulator beta							83.0	85.0	85.0					2																	205829959		1854	4098	5952	SO:0001583	missense	117583	0	0					g.chr2:205829959G>A	AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.307G>A	chr2.hg19:g.205829959G>A	ENSP00000385848:p.Ala103Thr	0					PARD3B_ENST00000349953.3_Missense_Mutation_p.A103T|PARD3B_ENST00000462231.1_Missense_Mutation_p.A103T|PARD3B_ENST00000351153.1_Missense_Mutation_p.A103T|PARD3B_ENST00000358768.2_Missense_Mutation_p.A103T	p.A103T	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	0	0	0	2.018080	Q8TEW8	PAR3L_HUMAN		3	514	+		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)	E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	ENST00000406610.2	1	1	hg19	c.307G>A		0	.	.	.	.	.	.	.	.	.	.	G	17.38	3.375436	0.61735	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	T;T;T;T	0.43688	0.94;0.94;0.94;0.94	5.61	3.73	0.42828	5.61	3.73	0.42828	.	0.220595	0.39020	N	0.001496	T	0.29355	0.0731	N	0.14661	0.345	0.26617	N	0.972736	P;P;P;P;P	0.49358	0.814;0.923;0.87;0.716;0.818	P;P;P;B;B	0.46796	0.458;0.527;0.525;0.407;0.167	T	0.08027	-1.0742	10	0.28530	T	0.3	.	11.2408	0.48968	0.0:0.2451:0.5704:0.1845	.	103;103;103;103;103	Q8TEW8-3;Q8TEW8;E9PE87;Q8TEW8-2;Q8TEW8-5	.;PAR3L_HUMAN;.;.;.	T	103	ENSP00000385848:A103T;ENSP00000351618:A103T;ENSP00000317261:A103T;ENSP00000340280:A103T	ENSP00000340280:A103T	A	+	1	0	0	PARD3B	205538204	205538204	0.558000	0.26554	1.000000	0.80357	0.984000	0.73092	1.066000	0.30604	2.635000	0.89317	0.563000	0.77884	GCT	0.146341		TCGA-IB-7885-01A-11D-2154-08	0.478	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000335992.1	1	0	1		2	2	2	0		0	0	57		57	56	1	1.730000	-5.727956	1	0.160000	NM_057177			14	14		199	196	0		1	1		0	0	57	0		0.999754	4.369838e-02	0	3	0	2	0	14	199
FBLN2	2199	broad.mit.edu	37	3	13612273	13612273	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr3:13612273G>A	ENST00000295760.7	+	2	487	c.418G>A	c.(418-420)Gtc>Atc	p.V140I	FBLN2_ENST00000535798.1_Missense_Mutation_p.V166I|FBLN2_ENST00000404922.3_Missense_Mutation_p.V140I|FBLN2_ENST00000492059.1_Missense_Mutation_p.V140I	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	140	N.|Subdomain NA (Cys-rich).				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GGTGGGCTGCGTCCACGCGGG	0.677																																						ENST00000295760.7	1.000000	0.390000	1.000000	0.590000	0.820000	0.797588	0.820000	1.000000																										0				24						c.(418-420)Gtc>Atc		fibulin 2							9.0	13.0	11.0					3																	13612273		2134	4218	6352	SO:0001583	missense	2199	5	120224	29				g.chr3:13612273G>A	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.418G>A	chr3.hg19:g.13612273G>A	ENSP00000295760:p.Val140Ile	0					FBLN2_ENST00000492059.1_Missense_Mutation_p.V140I|FBLN2_ENST00000404922.3_Missense_Mutation_p.V140I|FBLN2_ENST00000535798.1_Missense_Mutation_p.V166I	p.V140I	NM_001998.2	NP_001989.2	0	1	1	1.900460	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)	2	487	+			B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	ENST00000295760.7	0	1	hg19	c.418G>A	CCDS46762.1	0	.	.	.	.	.	.	.	.	.	.	G	6.919	0.539238	0.13250	.	.	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000465610;ENST00000492059	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;1.44;-0.18	5.05	-4.8	0.03190	5.05	-4.8	0.03190	.	0.992466	0.08188	N	0.984342	T	0.46054	0.1373	L	0.46157	1.445	0.09310	N	1	B;B;B	0.14805	0.011;0.007;0.003	B;B;B	0.09377	0.004;0.003;0.002	T	0.38650	-0.9651	10	0.45353	T	0.12	.	2.9868	0.05971	0.4092:0.2291:0.2727:0.089	.	140;140;166	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	I	166;140;140;140;140	ENSP00000445705:V166I;ENSP00000384169:V140I;ENSP00000295760:V140I;ENSP00000420164:V140I;ENSP00000420042:V140I	ENSP00000295760:V140I	V	+	1	0	0	FBLN2	13587273	13587273	0.000000	0.05858	0.001000	0.08648	0.112000	0.19704	-0.627000	0.05521	-0.614000	0.05687	-0.252000	0.11476	GTC	0.094828		TCGA-IB-7885-01A-11D-2154-08	0.677	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	0	0	1		2	2	2	0		0	0	16		16	15	1	1.730000	-13.853710	1	0.160000	NM_001004019			6	6		61	59	0		1	0	1	0	0	16	426		0.964065	9.854772e-01	9.999954e-01	0	36	85	396	6	61
TGFBR2	7048	broad.mit.edu	37	3	30686373	30686373	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08			T	A	T	T		Valid	Somatic	Phase_I	WXS	targeted			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr3:30686373T>A	ENST00000295754.5	+	2	611	c.229T>A	c.(229-231)Tgt>Agt	p.C77S	TGFBR2_ENST00000359013.4_Missense_Mutation_p.C102S	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	77					activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CACCTCCATCTGTGAGAAGCC	0.408																																						ENST00000295754.5	1.000000	0.410000	0.910000	0.550000	0.720000	0.733316	0.720000	1.000000																										0				53						c.(229-231)Tgt>Agt		transforming growth factor, beta receptor II (70/80kDa)							66.0	60.0	62.0					3																	30686373		2203	4300	6503	SO:0001583	missense	7048	0	0					g.chr3:30686373T>A		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.229T>A	chr3.hg19:g.30686373T>A	ENSP00000295754:p.Cys77Ser	0					TGFBR2_ENST00000359013.4_Missense_Mutation_p.C102S	p.C77S	NM_003242.5	NP_003233.4	0	1	1	1.900460	P37173	TGFR2_HUMAN		2	611	+			B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	ENST00000295754.5	1	1	hg19	c.229T>A	CCDS2648.1	0	.	.	.	.	.	.	.	.	.	.	T	24.4	4.530383	0.85706	.	.	ENSG00000163513	ENST00000295754;ENST00000359013	D;D	0.89123	-2.47;-2.47	5.66	5.66	0.87406	5.66	5.66	0.87406	Transforming growth factor beta receptor 2 ectodomain (1);	0.000000	0.85682	D	0.000000	D	0.93953	0.8064	M	0.74881	2.28	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.97110	1.0;1.0	D	0.94419	0.7639	10	0.66056	D	0.02	.	14.8777	0.70507	0.0:0.0:0.0:1.0	.	77;102	P37173;D2JYI1	TGFR2_HUMAN;.	S	77;102	ENSP00000295754:C77S;ENSP00000351905:C102S	ENSP00000295754:C77S	C	+	1	0	0	TGFBR2	30661377	30661377	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.321000	0.72881	2.147000	0.66899	0.533000	0.62120	TGT	0.094828		TCGA-IB-7885-01A-11D-2154-08	0.408	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2	1	0	1		2	2	2	0		0	0	71		71	71	1	1.730000	-16.661990	1	0.160000				13	12		189	187	1		1	1	1	0	0	71	294		0.999544	9.989650e-01	9.999955e-01	66	23	109	339	13	189
DCLK2	166614	broad.mit.edu	37	4	151168835	151168835	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr4:151168835T>C	ENST00000296550.7	+	13	2613	c.1859T>C	c.(1858-1860)aTc>aCc	p.I620T	DCLK2_ENST00000302176.8_Missense_Mutation_p.I637T|DCLK2_ENST00000506325.1_Missense_Mutation_p.I619T	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	620	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					TGGGATAACATCACGGACTCT	0.527																																					GBM(195;186 2215 13375 16801 37459)	ENST00000296550.7	0.800000	0.200000	0.620000	0.300000	0.440000	0.470447	0.440000	0.410000																										0				26						c.(1858-1860)aTc>aCc		doublecortin-like kinase 2							70.0	72.0	72.0					4																	151168835		2203	4300	6503	SO:0001583	missense	166614	0	0					g.chr4:151168835T>C	BC032726	CCDS34076.1, CCDS47142.1, CCDS47142.2	4q31.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000170390	ENSG00000170390			19002	protein-coding gene	gene with protein product		613166	"""doublecortin and CaM kinase-like 2"""	DCAMKL2		12477932	Standard	NM_001040260		Approved	MGC45428, DCDC3, DCDC3B, DCK2	uc003ilo.4	Q8N568	OTTHUMG00000161444	ENST00000296550.7:c.1859T>C	chr4.hg19:g.151168835T>C	ENSP00000296550:p.Ile620Thr	0					DCLK2_ENST00000506325.1_Missense_Mutation_p.I619T|DCLK2_ENST00000302176.8_Missense_Mutation_p.I637T	p.I620T	NM_001040260.3	NP_001035350.2	0	1	1	2.044131	Q8N568	DCLK2_HUMAN		13	2613	+	all_hematologic(180;0.151)		C9J5Q9|Q59GC8|Q8N399	Missense_Mutation	SNP	ENST00000296550.7	0	1	hg19	c.1859T>C	CCDS34076.1	0	.	.	.	.	.	.	.	.	.	.	T	31	5.059723	0.93846	.	.	ENSG00000170390	ENST00000296550;ENST00000506325;ENST00000302176	T;T;T	0.42900	0.96;0.96;0.96	6.17	6.17	0.99709	6.17	6.17	0.99709	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.049932	0.85682	D	0.000000	T	0.64681	0.2620	M	0.74647	2.275	0.80722	D	1	D;P;D	0.62365	0.986;0.873;0.991	P;B;D	0.64877	0.885;0.385;0.93	T	0.67868	-0.5559	10	0.87932	D	0	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	637;619;620	Q8N568-3;Q8N568-2;Q8N568	.;.;DCLK2_HUMAN	T	620;619;637	ENSP00000296550:I620T;ENSP00000427235:I619T;ENSP00000303887:I637T	ENSP00000296550:I620T	I	+	2	0	0	DCLK2	151388285	151388285	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.371000	0.80710	0.533000	0.62120	ATC	0.156627		TCGA-IB-7885-01A-11D-2154-08	0.527	DCLK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364952.1	0	0	1		2	2	2	0		0	0	71		71	71	1	1.730000	-9.423048	1	0.160000	NM_001040260			7	7		197	194	0		1	0		0	0	71	0		0.980123	1.313011e-01	0	0	0	16	0	7	197
TXNDC15	79770	broad.mit.edu	37	5	134232006	134232006	+	Missense_Mutation	SNP	G	G	A	rs139088311		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:134232006G>A	ENST00000358387.4	+	4	1403	c.778G>A	c.(778-780)Gta>Ata	p.V260I	TXNDC15_ENST00000546290.1_Missense_Mutation_p.V237I	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	260	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTTTGGCACCGTAGCTGTTCC	0.338																																						ENST00000358387.4	1.000000	0.620000	1.000000	0.730000	0.860000	0.858709	0.860000	1.000000																										0				17						c.(778-780)Gta>Ata		thioredoxin domain containing 15		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	98.0	100.0	99.0		778	6.2	0.9	5	dbSNP_134	99	0,8600		0,0,4300	no	missense	TXNDC15	NM_024715.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	260/361	134232006	1,13005	2203	4300	6503	SO:0001583	missense	79770	3	121410	37				g.chr5:134232006G>A	AK026278	CCDS4180.1	5q31.1	2008-02-05	2007-08-16	2007-08-16	ENSG00000113621	ENSG00000113621			20652	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 14"""	C5orf14			Standard	NM_024715		Approved	2310047H23Rik, FLJ22625	uc003lac.1	Q96J42	OTTHUMG00000129115	ENST00000358387.4:c.778G>A	chr5.hg19:g.134232006G>A	ENSP00000351157:p.Val260Ile	0					TXNDC15_ENST00000546290.1_Missense_Mutation_p.V237I	p.V260I	NM_024715.3	NP_078991.3	1	2	3	2.045984	Q96J42	TXD15_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	4	1403	+			D3DQA9|Q96MT2|Q9H639	Missense_Mutation	SNP	ENST00000358387.4	1	1	hg19	c.778G>A	CCDS4180.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.437679|5.437679	0.96168|0.96168	2.27E-4|2.27E-4	0.0|0.0	ENSG00000113621|ENSG00000113621	ENST00000509954|ENST00000441965;ENST00000358387;ENST00000546290	.|T;T	.|0.03301	.|3.98;3.98	6.17|6.17	6.17|6.17	0.99709|0.99709	6.17|6.17	6.17|6.17	0.99709|0.99709	.|Thioredoxin domain (1);Thioredoxin-like fold (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.14442|0.14442	0.0349|0.0349	L|L	0.41415|0.41415	1.275|1.275	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	T|T	0.00137|0.00137	-1.2004|-1.2004	5|10	.|0.54805	.|T	.|0.06	2.2193|2.2193	20.8794|20.8794	0.99867|0.99867	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|260	.|Q96J42	.|TXD15_HUMAN	H|I	14|244;260;237	.|ENSP00000351157:V260I;ENSP00000443942:V237I	.|ENSP00000351157:V260I	R|V	+|+	2|1	0|0	0|0	TXNDC15|TXNDC15	134259905|134259905	134259905|134259905	1.000000|1.000000	0.71417|0.71417	0.850000|0.850000	0.33497|0.33497	0.972000|0.972000	0.66771|0.66771	9.476000|9.476000	0.97823|0.97823	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CGT|GTA	0.163347		TCGA-IB-7885-01A-11D-2154-08	0.338	TXNDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251160.1	1	0	1		2	2	2	0		0	0	84		84	84	1	1.730000	-3.075755	1	0.160000	NM_024715			40	39		548	540	0		1	1		0	0	84	0		1.000000	9.999057e-01	0	17	0	171	0	40	548
PCDHGA7	56108	broad.mit.edu	37	5	140763117	140763117	+	Silent	SNP	C	C	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:140763117C>T	ENST00000518325.1	+	1	651	c.651C>T	c.(649-651)ggC>ggT	p.G217G	PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	217	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCTGATGGCGGCGACCCGC	0.607																																						ENST00000518325.1	1.000000	0.230000	0.900000	0.380000	0.590000	0.623540	0.590000	1.000000																										0				49						c.(649-651)ggC>ggT		protocadherin gamma subfamily A, 7							17.0	20.0	19.0					5																	140763117		2089	4208	6297	SO:0001819	synonymous_variant	56108	0	0					g.chr5:140763117C>T	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.651C>T	chr5.hg19:g.140763117C>T		0					PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	p.G217G	NM_018920.2	NP_061743.1	1	2	3	2.045984	Q9Y5G6	PCDG7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	1	651	+			B2RN87|Q9Y5D0	Silent	SNP	ENST00000518325.1	0	1	hg19	c.651C>T	CCDS54927.1	0																																																																																								0.163347		TCGA-IB-7885-01A-11D-2154-08	0.607	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	0	0	0		2	2	2	0		0	0	23		23	21	1	1.730000	-4.195660	1	0.160000	NM_018920			5	5		109	105	0		1	0		0	0	23	0		0.932972	3.094607e-03	0	0	0	2	0	5	109
GPRIN1	114787	broad.mit.edu	37	5	176025336	176025336	+	Silent	SNP	C	C	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:176025336C>T	ENST00000303991.4	-	2	1677	c.1500G>A	c.(1498-1500)ttG>ttA	p.L500L		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	500					neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGCTGTCCCCAAGGACCTGG	0.547																																						ENST00000303991.4	1.000000	0.440000	0.790000	0.540000	0.650000	0.671888	0.650000	0.640000																										0				35						c.(1498-1500)ttG>ttA		G protein regulated inducer of neurite outgrowth 1							78.0	85.0	83.0					5																	176025336		2203	4298	6501	SO:0001819	synonymous_variant	114787	2	121408	35				g.chr5:176025336C>T	AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.1500G>A	chr5.hg19:g.176025336C>T		0						p.L500L	NM_052899.2	NP_443131.2	1	2	3	2.045984	Q7Z2K8	GRIN1_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	2	1677	-	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	C9JM70|Q8ND74|Q96PZ4	Silent	SNP	ENST00000303991.4	1	1	hg19	c.1500G>A	CCDS4405.1	0																																																																																								0.163347		TCGA-IB-7885-01A-11D-2154-08	0.547	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253149.1	1	0	1		2	2	2	0		0	0	151		151	151	1	1.730000	-2.599005	1	0.160000	NM_052899			29	29		535	523	0		1	1		0	0	151	0		1.000000	2.670764e-01	0	2	0	17	0	29	535
BTNL9	153579	broad.mit.edu	37	5	180475168	180475168	+	Silent	SNP	C	C	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr5:180475168C>T	ENST00000327705.9	+	3	582	c.351C>T	c.(349-351)gtC>gtT	p.V117V	BTNL9_ENST00000376841.2_Silent_p.V117V|BTNL9_ENST00000376842.3_Silent_p.V117V|BTNL9_ENST00000515271.1_Silent_p.V48V	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	117	Ig-like V-type.					integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCAGCGTGGTCCTGCAGCTTC	0.597																																						ENST00000327705.9	1.000000	0.420000	0.990000	0.570000	0.750000	0.760977	0.750000	1.000000																										0				19						c.(349-351)gtC>gtT		butyrophilin-like 9							73.0	60.0	65.0					5																	180475168		2203	4300	6503	SO:0001819	synonymous_variant	153579	0	0					g.chr5:180475168C>T	AK057097	CCDS4460.2	5q35.3	2014-01-14			ENSG00000165810	ENSG00000165810		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	24176	protein-coding gene	gene with protein product							Standard	NM_152547		Approved	FLJ32535, BTN8	uc003mmt.3	Q6UXG8	OTTHUMG00000133152	ENST00000327705.9:c.351C>T	chr5.hg19:g.180475168C>T		0					BTNL9_ENST00000376841.2_Silent_p.V117V|BTNL9_ENST00000515271.1_Silent_p.V48V|BTNL9_ENST00000376842.3_Silent_p.V117V	p.V117V	NM_152547.4	NP_689760.2	1	2	3	2.045984	Q6UXG8	BTNL9_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	3	582	+	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	A6NL42|Q6P660|Q96DM5	Silent	SNP	ENST00000327705.9	1	1	hg19	c.351C>T	CCDS4460.2	0																																																																																								0.163347		TCGA-IB-7885-01A-11D-2154-08	0.597	BTNL9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000157342.3	1	0	1		2	2	2	0		0	0	65		65	65	1	1.730000	-16.360060	1	0.160000	NM_152547			13	12		209	206	0		1	0		0	0	65	0		0.999527	5.165357e-02	0	0	0	6	0	13	209
NRSN1	140767	broad.mit.edu	37	6	24145857	24145857	+	Missense_Mutation	SNP	G	G	A	rs199771455		TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:24145857G>A	ENST00000378491.4	+	4	572	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K		NM_080723.4	NP_542454.3			neurensin 1									p.E91K(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						CCCCAAAATCGAAGCATTTGG	0.488													G|||	1	0.000199681	0.0	0.0	5008	,	,		14671	0.001		0.0	False		,,,				2504	0.0					ENST00000378491.4	1.000000	0.690000	1.000000	0.820000	0.960000	0.928917	0.960000	1.000000																										2	Substitution - Missense(2)	p.E91K(2)	lung(1)|skin(1)	22						c.(271-273)Gaa>Aaa		neurensin 1							102.0	97.0	99.0					6																	24145857		2203	4300	6503	SO:0001583	missense	140767	1	121412	37				g.chr6:24145857G>A	AF418980	CCDS4549.1	6p22.1	2008-02-05	2006-07-04	2006-07-04	ENSG00000152954	ENSG00000152954			17881	protein-coding gene	gene with protein product			"""vesicular membrane protein p24"""	VMP		12463420	Standard	NM_080723		Approved	p24	uc010jpq.1	Q8IZ57	OTTHUMG00000016406	ENST00000378491.4:c.271G>A	chr6.hg19:g.24145857G>A	ENSP00000367752:p.Glu91Lys	0						p.E91K	NM_080723.4	NP_542454.3	0	0	0	2.030817				4	572	+				Missense_Mutation	SNP	ENST00000378491.4	1	1	hg19	c.271G>A	CCDS4549.1	1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	32	5.178898	0.94846	.	.	ENSG00000152954	ENST00000378491;ENST00000378477	T	0.24151	1.87	5.37	5.37	0.77165	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.45597	0.1350	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.63877	0.919	T	0.50432	-0.8829	10	0.87932	D	0	5.9041	19.1095	0.93312	0.0:0.0:1.0:0.0	.	91	Q8IZ57	NRSN1_HUMAN	K	91	ENSP00000367752:E91K	ENSP00000367738:E91K	E	+	1	0	0	NRSN1	24253836	24253836	1.000000	0.71417	1.000000	0.80357	0.703000	0.40648	9.620000	0.98373	2.524000	0.85096	0.557000	0.71058	GAA	0.151858		TCGA-IB-7885-01A-11D-2154-08	0.488	NRSN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043866.1	1	0	1		2	2	2	0		0	0	87		87	86	1	1.730000	-9.986972	1	0.160000	NM_080723			37	37		435	425	0		1			0	0	87	0		1.000000	0	0	0	0	0	0	37	435
TRIM26	7726	broad.mit.edu	37	6	30166741	30166741	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:30166741G>A	ENST00000454678.2	-	4	576	c.140C>T	c.(139-141)tCa>tTa	p.S47L	TRIM26_ENST00000437089.1_Missense_Mutation_p.S47L|TRIM26_ENST00000453195.1_Missense_Mutation_p.S47L|TRIM26_ENST00000487829.1_5'UTR	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	47					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			lung(1)|ovary(2)	3						GCGGCTCCCTGAGATGGGGCG	0.602																																						ENST00000454678.2	1.000000	0.860000	1.000000	0.990000	0.990000	0.990903	0.990000	1.000000																										0				3						c.(139-141)tCa>tTa		tripartite motif containing 26							47.0	45.0	46.0					6																	30166741		1509	2709	4218	SO:0001583	missense	7726	0	0					g.chr6:30166741G>A	AB088090	CCDS4678.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000234127	ENSG00000234127		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	12962	protein-coding gene	gene with protein product		600830	"""tripartite motif-containing 26"""	ZNF173		8530076	Standard	NM_003449		Approved	RNF95	uc003npt.3	Q12899	OTTHUMG00000031041	ENST00000454678.2:c.140C>T	chr6.hg19:g.30166741G>A	ENSP00000410446:p.Ser47Leu	0					TRIM26_ENST00000453195.1_Missense_Mutation_p.S47L|TRIM26_ENST00000437089.1_Missense_Mutation_p.S47L|TRIM26_ENST00000487829.1_5'UTR	p.S47L	NM_003449.4	NP_003440.1	0	0	0	2.030817	Q12899	TRI26_HUMAN		4	576	-			A6NG96|Q5SRL2	Missense_Mutation	SNP	ENST00000454678.2	1	1	hg19	c.140C>T	CCDS4678.1	1	.	.	.	.	.	.	.	.	.	.	G	11.95	1.790254	0.31685	.	.	ENSG00000234127	ENST00000453195;ENST00000454678;ENST00000437089;ENST00000416596;ENST00000420345;ENST00000418026;ENST00000434785	T;T;T;T;T;T	0.08458	3.09;3.09;3.09;3.09;3.09;3.09	5.59	3.8	0.43715	5.59	3.8	0.43715	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.676716	0.12973	N	0.423994	T	0.02929	0.0087	L	0.33485	1.01	0.09310	N	1	P	0.50369	0.934	P	0.47864	0.559	T	0.38457	-0.9660	10	0.21540	T	0.41	.	5.4594	0.16607	0.1742:0.1654:0.6604:0.0	.	47	Q12899	TRI26_HUMAN	L	47	ENSP00000391879:S47L;ENSP00000410446:S47L;ENSP00000395491:S47L;ENSP00000413673:S47L;ENSP00000387530:S47L;ENSP00000400920:S47L	ENSP00000413673:S47L	S	-	2	0	0	TRIM26	30274720	30274720	0.007000	0.16637	0.015000	0.15790	0.052000	0.14988	1.758000	0.38410	1.363000	0.46019	-0.163000	0.13421	TCA	0.151858		TCGA-IB-7885-01A-11D-2154-08	0.602	TRIM26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253442.1	1	0	1		2	2	2	0		0	0	46		46	46	1	1.730000	-20.000000	1	0.160000	NM_003449			25	25		215	205	1		1	1		0	0	46	0		1.000000	9.988622e-01	0	20	0	74	0	25	215
CFB	629	broad.mit.edu	37	6	31918989	31918989	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:31918989C>T	ENST00000425368.2	+	15	2437	c.1924C>T	c.(1924-1926)Cgg>Tgg	p.R642W	CFB_ENST00000556679.1_Missense_Mutation_p.R1144W|CFB_ENST00000456570.1_Missense_Mutation_p.R1144W|CFB_ENST00000477310.1_Missense_Mutation_p.R993W	NM_001710.5	NP_001701.2	P00751	CFAB_HUMAN	complement factor B	642	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	complement binding (GO:0001848)|serine-type endopeptidase activity (GO:0004252)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						AAAGCTGACTCGGAAGGAGGT	0.502																																						ENST00000425368.2	1.000000	0.920000	1.000000	0.990000	0.990000	0.995846	0.990000	1.000000																										0				21						c.(1924-1926)Cgg>Tgg		complement factor B							93.0	95.0	94.0					6																	31918989		1511	2709	4220	SO:0001583	missense	629	0	0					g.chr6:31918989C>T	L15702	CCDS4729.1	6p21.33	2014-09-17	2006-02-10	2006-02-10	ENSG00000243649	ENSG00000243649	3.4.21.47	"""Complement system"""	1037	protein-coding gene	gene with protein product		138470	"""B-factor, properdin"""	BFD, BF			Standard	NM_001710		Approved	H2-Bf	uc011dor.2	P00751	OTTHUMG00000031198	ENST00000425368.2:c.1924C>T	chr6.hg19:g.31918989C>T	ENSP00000416561:p.Arg642Trp	0					CFB_ENST00000456570.1_Missense_Mutation_p.R1144W|CFB_ENST00000477310.1_Missense_Mutation_p.R993W|CFB_ENST00000556679.1_Missense_Mutation_p.R1144W	p.R642W	NM_001710.5	NP_001701.2	0	0	0	2.030817	P00751	CFAB_HUMAN		15	2437	+			B0QZQ6|O15006|Q29944|Q53F89|Q5JP67|Q5ST50|Q96HX6|Q9BTF5|Q9BX92	Missense_Mutation	SNP	ENST00000425368.2	1	1	hg19	c.1924C>T	CCDS4729.1	1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.068731	0.76301	.	.	ENSG00000243649;ENSG00000243649;ENSG00000244255;ENSG00000244255	ENST00000556679;ENST00000425368;ENST00000456570;ENST00000477310	D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43	5.41	5.41	0.78517	5.41	5.41	0.78517	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.166558	0.28865	N	0.013890	D	0.90126	0.6915	L	0.48260	1.515	0.37642	D	0.922095	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.989	D	0.91549	0.5255	10	0.87932	D	0	-23.6051	11.7828	0.52023	0.1755:0.8245:0.0:0.0	.	1144;642	B4E1Z4;P00751	.;CFAB_HUMAN	W	1144;642;1144;993	ENSP00000451848:R1144W;ENSP00000416561:R642W;ENSP00000410815:R1144W;ENSP00000418996:R993W	ENSP00000416561:R642W	R	+	1	2	2	CFB;XXbac-BPG116M5.17	32026968	32026968	0.986000	0.35501	0.957000	0.39632	0.975000	0.68041	2.981000	0.49329	2.535000	0.85469	0.591000	0.81541	CGG	0.151858		TCGA-IB-7885-01A-11D-2154-08	0.502	CFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076395.3	1	0	1		2	2	2	0		0	0	101		101	100	1	1.730000	-2.920854	1	0.160000	NM_001710			39	38		339	331	1		1	1		0	0	101	0		1.000000	1	0	645	0	968	0	39	339
ZNF292	23036	broad.mit.edu	37	6	87969936	87969936	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:87969936C>A	ENST00000369577.3	+	8	6632	c.6589C>A	c.(6589-6591)Cat>Aat	p.H2197N	ZNF292_ENST00000339907.4_Missense_Mutation_p.H2192N	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2197						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CATGAAACTTCATGAAATGAC	0.353																																						ENST00000369577.3	0.970000	0.610000	0.900000	0.700000	0.790000	0.803415	0.790000	0.800000																										0				89						c.(6589-6591)Cat>Aat		zinc finger protein 292							196.0	195.0	196.0					6																	87969936		1863	4097	5960	SO:0001583	missense	23036	0	0					g.chr6:87969936C>A	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.6589C>A	chr6.hg19:g.87969936C>A	ENSP00000358590:p.His2197Asn	1					ZNF292_ENST00000339907.4_Missense_Mutation_p.H2192N	p.H2197N	NM_015021.1	NP_055836.1	0	1	1	1.873866	O60281	ZN292_HUMAN		8	6632	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	1	1	hg19	c.6589C>A	CCDS47457.1	0	.	.	.	.	.	.	.	.	.	.	C	24.6	4.546126	0.86022	.	.	ENSG00000188994	ENST00000369577;ENST00000339907;ENST00000496806	T;T;T	0.63744	-0.06;-0.06;-0.06	5.42	5.42	0.78866	5.42	5.42	0.78866	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.82061	0.4955	M	0.92268	3.29	0.54753	D	0.99998	D	0.69078	0.997	D	0.73380	0.98	D	0.85022	0.0912	10	0.52906	T	0.07	.	19.21	0.93749	0.0:1.0:0.0:0.0	.	2197	O60281	ZN292_HUMAN	N	2197;2192;115	ENSP00000358590:H2197N;ENSP00000342847:H2192N;ENSP00000428857:H115N	ENSP00000342847:H2192N	H	+	1	0	0	ZNF292	88026655	88026655	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.541000	0.85698	0.591000	0.81541	CAT	0.086957		TCGA-IB-7885-01A-11D-2154-08	0.353	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	1	0	1		2	2	2	0		0	0	216		216	215	1	1.730000	-10.916610	1	0.160000	NM_015021			56	56		737	719	1		1	1		0	0	216	0		1.000000	6.016087e-01	0	10	0	18	0	56	737
THEMIS	387357	broad.mit.edu	37	6	128134640	128134640	+	Silent	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr6:128134640G>A	ENST00000368248.2	-	4	1294	c.1146C>T	c.(1144-1146)tcC>tcT	p.S382S	THEMIS_ENST00000537166.1_Silent_p.S347S|THEMIS_ENST00000368250.1_Silent_p.S303S|THEMIS_ENST00000543064.1_Silent_p.S382S	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	382	CABIT 2.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CAACAGATACGGATGACAGCT	0.488																																						ENST00000368248.2	1.000000	0.760000	0.990000	0.850000	0.930000	0.926958	0.930000	0.990000																										0				60						c.(1144-1146)tcC>tcT		thymocyte selection associated							94.0	96.0	95.0					6																	128134640		2203	4300	6503	SO:0001819	synonymous_variant	387357	0	0					g.chr6:128134640G>A	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.1146C>T	chr6.hg19:g.128134640G>A		1					THEMIS_ENST00000368250.1_Silent_p.S303S|THEMIS_ENST00000537166.1_Silent_p.S347S|THEMIS_ENST00000543064.1_Silent_p.S382S	p.S382S	NM_001010923.2	NP_001010923.1	0	1	1	1.873866	Q8N1K5	THMS1_HUMAN		4	1294	-			A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Silent	SNP	ENST00000368248.2	1	1	hg19	c.1146C>T	CCDS34534.1	1																																																																																								0.086957		TCGA-IB-7885-01A-11D-2154-08	0.488	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		1	0	1		2	2	2	0		0	0	96		96	96	1	1.730000	-2.402340	0	0.160000	NM_001010923			38	37		320	317	0		1	0		0	0	96	0		1.000000	3.329201e-02	0	0	0	3	0	38	320
PSMC2	5701	broad.mit.edu	37	7	102996160	102996160	+	Silent	SNP	T	T	C			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:102996160T>C	ENST00000435765.1	+	5	621	c.210T>C	c.(208-210)acT>acC	p.T70T	SLC26A5_ENST00000356767.4_Intron|PSMC2_ENST00000292644.3_Silent_p.T70T|SLC26A5_ENST00000393735.2_Intron|PSMC2_ENST00000544811.1_Intron|SLC26A5_ENST00000339444.6_Intron	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	70					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|osteoblast differentiation (GO:0001649)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						AATCTGACACTGGCCTGGCCC	0.448																																						ENST00000435765.1	1.000000	0.570000	1.000000	0.760000	0.990000	0.909920	0.990000	1.000000																										0				21						c.(208-210)acT>acC		proteasome (prosome, macropain) 26S subunit, ATPase, 2							95.0	93.0	94.0					7																	102996160		2203	4300	6503	SO:0001819	synonymous_variant	5701	0	0					g.chr7:102996160T>C	D11094	CCDS5731.1	7q22.1-q22.3	2010-04-21			ENSG00000161057	ENSG00000161057		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9548	protein-coding gene	gene with protein product	"""proteasome 26S subunit, ATPase, 2"", ""mammalian suppressor of sgv-1 of yeast"", ""protease 26S subunit 7"", ""putative protein product of Nbla10058"""	154365				9473509, 1377363	Standard	NM_002803		Approved	MSS1, S7, Nbla10058	uc003vbs.3	P35998	OTTHUMG00000157206	ENST00000435765.1:c.210T>C	chr7.hg19:g.102996160T>C		0					PSMC2_ENST00000544811.1_Intron|PSMC2_ENST00000292644.3_Silent_p.T70T|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000356767.4_Intron	p.T70T	NM_002803.3	NP_002794.1	1	2	3	2.060044	P35998	PRS7_HUMAN		5	621	+			A4D0Q1|B7Z5E2|Q3LIA5|Q9UDI3	Silent	SNP	ENST00000435765.1	1	1	hg19	c.210T>C	CCDS5731.1	1																																																																																								0.166667		TCGA-IB-7885-01A-11D-2154-08	0.448	PSMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347922.1	1	0	1		2	2	2	0		0	0	59		59	59	1	1.730000	-19.052120	1	0.160000	NM_002803			14	13		168	164	1		1	1		0	0	59	0		0.999746	9.999969e-01	0	90	0	214	0	14	168
HECW1	23072	broad.mit.edu	37	7	43447240	43447240	+	Silent	SNP	A	A	G			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:43447240A>G	ENST00000395891.2	+	8	1316	c.711A>G	c.(709-711)aaA>aaG	p.K237K	HECW1_ENST00000471043.1_3'UTR|HECW1_ENST00000453890.1_Silent_p.K237K	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	237	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AGCCTGGGAAACACAGCATCT	0.493																																						ENST00000395891.2	1.000000	0.680000	1.000000	0.870000	0.990000	0.953745	0.990000	1.000000																										0				125						c.(709-711)aaA>aaG		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1							54.0	54.0	54.0					7																	43447240		1914	4153	6067	SO:0001819	synonymous_variant	23072	0	0					g.chr7:43447240A>G	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.711A>G	chr7.hg19:g.43447240A>G		0					HECW1_ENST00000453890.1_Silent_p.K237K|HECW1_ENST00000471043.1_3'UTR	p.K237K	NM_015052.3	NP_055867.3	1	2	3	2.060044	Q76N89	HECW1_HUMAN		8	1316	+			A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	1	1	hg19	c.711A>G	CCDS5469.2	1																																																																																								0.166667		TCGA-IB-7885-01A-11D-2154-08	0.493	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	1	0	1		2	2	2	0		0	0	52		52	52	1	1.730000	-7.731963	1	0.160000	NM_015052			19	18		204	198	0		1	0		0	0	52	0		0.999990	8.259587e-03	0	0	0	2	0	19	204
PCLO	27445	broad.mit.edu	37	7	82584750	82584750	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:82584750T>C	ENST00000333891.9	-	5	5856	c.5519A>G	c.(5518-5520)gAa>gGa	p.E1840G	PCLO_ENST00000423517.2_Missense_Mutation_p.E1840G	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACGTAACTCTTCTGTCGGAGA	0.438																																						ENST00000333891.9	1.000000	0.890000	1.000000	0.990000	0.990000	0.991464	0.990000	1.000000																										0				259						c.(5518-5520)gAa>gGa		piccolo presynaptic cytomatrix protein							224.0	206.0	212.0					7																	82584750		1870	4105	5975	SO:0001583	missense	27445	0	0					g.chr7:82584750T>C	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.5519A>G	chr7.hg19:g.82584750T>C	ENSP00000334319:p.Glu1840Gly	0					PCLO_ENST00000423517.2_Missense_Mutation_p.E1840G	p.E1840G	NM_033026.5	NP_149015.2	1	2	3	2.060044				5	5856	-				Missense_Mutation	SNP	ENST00000333891.9	1	1	hg19	c.5519A>G	CCDS47630.1	1	.	.	.	.	.	.	.	.	.	.	T	12.16	1.855731	0.32791	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.30448	1.53;1.55	5.57	5.57	0.84162	5.57	5.57	0.84162	.	.	.	.	.	T	0.42585	0.1209	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.67382	0.951;0.951	T	0.41645	-0.9497	9	0.87932	D	0	.	15.7247	0.77747	0.0:0.0:0.0:1.0	.	1840;1840	Q9Y6V0-5;Q9Y6V0-6	.;.	G	1771;1840;1840	ENSP00000334319:E1840G;ENSP00000388393:E1840G	ENSP00000334319:E1840G	E	-	2	0	0	PCLO	82422686	82422686	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	8.013000	0.88655	2.116000	0.64780	0.533000	0.62120	GAA	0.166667		TCGA-IB-7885-01A-11D-2154-08	0.438	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	1	0	1		2	2	2	0		0	0	198		198	196	1	1.730000	-19.122090	1	0.160000	NM_014510			75	74		771	754	0		1	0		0	0	198	0		1.000000	0	0	0	0	1	0	75	771
SSPO	23145	broad.mit.edu	37	7	149524951	149524951	+	RNA	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr7:149524951G>A	ENST00000378016.2	+	0	14862							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CAAAGACCCAGAGTAACTGCA	0.682																																						ENST00000378016.2	1.000000	0.470000	1.000000	0.630000	0.840000	0.825327	0.840000	1.000000																										0												SCO-spondin							45.0	56.0	52.0					7																	149524951		2096	4206	6302			23145	0	0					g.chr7:149524951G>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		chr7.hg19:g.149524951G>A		0									1	2	3	2.060044	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)	0	14862	+	Melanoma(164;0.165)|Ovarian(565;0.177)		Q76B61	RNA	SNP	ENST00000378016.2	1	1	hg19			0																																																																																								0.166667		TCGA-IB-7885-01A-11D-2154-08	0.682	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript		0	0	1		2	2	2	0		0	0	54		54	53	1	1.730000	-17.801970	1	0.160000				14	14		204	197	0		1	0		0	0	54	0		0.999728	0	0	0	0	1	0	14	204
SH2D4A	63898	broad.mit.edu	37	8	19250984	19250984	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr8:19250984G>A	ENST00000265807.3	+	9	1615	c.1204G>A	c.(1204-1206)Gcc>Acc	p.A402T	SH2D4A_ENST00000519207.1_Missense_Mutation_p.A402T|SH2D4A_ENST00000518040.1_Missense_Mutation_p.A357T	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	Q9H788	SH24A_HUMAN	SH2 domain containing 4A	402	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				negative regulation of phosphatase activity (GO:0010923)	cytoplasm (GO:0005737)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		CTCTGCAGACGCCTACAGCTT	0.498																																						ENST00000265807.3	1.000000	0.710000	1.000000	0.860000	0.990000	0.951626	0.990000	1.000000																										0				16						c.(1204-1206)Gcc>Acc		SH2 domain containing 4A							86.0	76.0	80.0					8																	19250984		2203	4300	6503	SO:0001583	missense	63898	1	121412	26				g.chr8:19250984G>A	AY190323	CCDS6009.1, CCDS55206.1	8p21	2013-02-14			ENSG00000104611	ENSG00000104611		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	26102	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 38"""	614968					Standard	NM_022071		Approved	FLJ20967, SH2A, PPP1R38	uc003wzc.3	Q9H788	OTTHUMG00000097005	ENST00000265807.3:c.1204G>A	chr8.hg19:g.19250984G>A	ENSP00000265807:p.Ala402Thr	0					SH2D4A_ENST00000518040.1_Missense_Mutation_p.A357T|SH2D4A_ENST00000519207.1_Missense_Mutation_p.A402T	p.A402T	NM_001174160.1|NM_022071.3	NP_001167631.1|NP_071354.2	1	2	3	2.046120	Q9H788	SH24A_HUMAN		9	1615	+			B4DDR1|Q5XKC1|Q6NXE9|Q86YM2|Q96C88|Q9H7F7	Missense_Mutation	SNP	ENST00000265807.3	1	1	hg19	c.1204G>A	CCDS6009.1	1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.602992	0.28534	.	.	ENSG00000104611	ENST00000265807;ENST00000518040;ENST00000519207	T;T;T	0.62639	0.01;0.01;0.01	5.89	3.48	0.39840	5.89	3.48	0.39840	SH2 motif (4);	0.143839	0.49916	D	0.000129	T	0.32315	0.0825	N	0.01656	-0.775	0.21740	N	0.999567	B;B	0.28026	0.198;0.064	B;B	0.28784	0.094;0.039	T	0.20672	-1.0268	10	0.19590	T	0.45	.	12.1602	0.54099	0.0:0.0:0.2721:0.7279	.	357;402	B4DDR1;Q9H788	.;SH24A_HUMAN	T	402;357;402	ENSP00000265807:A402T;ENSP00000429482:A357T;ENSP00000428684:A402T	ENSP00000265807:A402T	A	+	1	0	0	SH2D4A	19295264	19295264	1.000000	0.71417	0.996000	0.52242	0.276000	0.26787	3.207000	0.51106	0.468000	0.27243	-1.262000	0.01453	GCC	0.163347		TCGA-IB-7885-01A-11D-2154-08	0.498	SH2D4A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214094.1	1	0	1		2	2	2	0		0	0	81		81	81	1	1.730000	-3.142702	1	0.160000	NM_022071			27	26		299	295	1		1	1	0	0	0	81	0		1.000000	9.992783e-01	0	52	0	74	1	27	299
HR	55806	broad.mit.edu	37	8	21985133	21985133	+	Silent	SNP	C	C	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr8:21985133C>T	ENST00000381418.4	-	3	2302	c.822G>A	c.(820-822)gtG>gtA	p.V274V	HR_ENST00000518377.1_5'Flank|HR_ENST00000312841.8_Silent_p.V274V	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	274					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		AGGTCCAGGGCACAGTGTCTG	0.657																																						ENST00000381418.4	1.000000	0.660000	1.000000	0.770000	0.900000	0.893993	0.900000	1.000000																										0				27						c.(820-822)gtG>gtA		hair growth associated							56.0	64.0	61.0					8																	21985133		2203	4300	6503	SO:0001819	synonymous_variant	55806	0	0					g.chr8:21985133C>T	AF039196	CCDS6022.1, CCDS6023.1	8p12	2012-12-07	2012-12-07		ENSG00000168453	ENSG00000168453			5172	protein-coding gene	gene with protein product		602302	"""hairless (mouse) homolog"", ""hairless homolog (mouse)"""	ALUNC		10051399, 9463324	Standard	NM_018411		Approved	AU	uc003xas.3	O43593	OTTHUMG00000097089	ENST00000381418.4:c.822G>A	chr8.hg19:g.21985133C>T		0					HR_ENST00000312841.8_Silent_p.V274V|HR_ENST00000518377.1_5'Flank	p.V274V	NM_005144.4	NP_005135.2	1	2	3	2.046120	O43593	HAIR_HUMAN		3	2302	-		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)	Q6GS30|Q96H33|Q9NPE1	Silent	SNP	ENST00000381418.4	1	1	hg19	c.822G>A	CCDS6022.1	1																																																																																								0.163347		TCGA-IB-7885-01A-11D-2154-08	0.657	HR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214213.1	1	0	1		2	2	2	0		0	0	143		143	141	1	1.730000	-10.228010	1	0.160000				42	41		543	531	0		1	1		0	0	143	0		1.000000	1.128829e-01	0	2	0	6	0	42	543
TLN1	7094	broad.mit.edu	37	9	35699041	35699041	+	Silent	SNP	C	C	T			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	RNA			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr9:35699041C>T	ENST00000314888.9	-	52	7340	c.6987G>A	c.(6985-6987)cgG>cgA	p.R2329R	TLN1_ENST00000540444.1_Silent_p.R2217R	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2329	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGGGTTTGGCCCGGGGCTTCA	0.567																																						ENST00000314888.9	1.000000	0.700000	0.980000	0.810000	0.910000	0.904152	0.910000	0.990000																										0				85						c.(6985-6987)cgG>cgA		talin 1							92.0	82.0	85.0					9																	35699041		2203	4299	6502	SO:0001819	synonymous_variant	7094	0	0					g.chr9:35699041C>T	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.6987G>A	chr9.hg19:g.35699041C>T		1					TLN1_ENST00000540444.1_Silent_p.R2217R	p.R2329R	NM_006289.3	NP_006280.3	0	1	1	1.880781	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	52	7340	-	all_epithelial(49;0.167)		A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Silent	SNP	ENST00000314888.9	1	1	hg19	c.6987G>A	CCDS35009.1	1																																																																																								0.086957		TCGA-IB-7885-01A-11D-2154-08	0.567	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	1	0	1		2	2	2	0		0	0	89		89	87	1	1.730000	-20.000000	1	0.160000	NM_006289			29	27		257	245	1		1	1		0	0	89	0		1.000000	1	0	139	0	715	0	29	257
PRUNE2	158471	broad.mit.edu	37	9	79325846	79325846	+	Silent	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr9:79325846G>A	ENST00000376718.3	-	8	1467	c.1344C>T	c.(1342-1344)gaC>gaT	p.D448D	PRUNE2_ENST00000428286.1_Silent_p.D89D	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	448					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CGGGGCTGTCGTCACTGAGGA	0.602																																						ENST00000376718.3	1.000000	0.710000	1.000000	0.910000	0.990000	0.965137	0.990000	1.000000																										0				16						c.(1342-1344)gaC>gaT		prune homolog 2 (Drosophila)							46.0	42.0	43.0					9																	79325846		1568	3582	5150	SO:0001819	synonymous_variant	158471	2	120344	29				g.chr9:79325846G>A	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.1344C>T	chr9.hg19:g.79325846G>A		0					PRUNE2_ENST00000428286.1_Silent_p.D89D	p.D448D	NM_015225.2	NP_056040.2	0	1	1	2.039043	Q8WUY3	PRUN2_HUMAN		8	1467	-			B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Silent	SNP	ENST00000376718.3	1	1	hg19	c.1344C>T	CCDS47982.1	1																																																																																								0.155949		TCGA-IB-7885-01A-11D-2154-08	0.602	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052730.2	1	0	1		2	2	2	0		0	0	36		36	34	1	1.730000	-19.999990	1	0.160000	NM_138818			18	18		177	174	0		1	0		0	0	36	0		0.999984	9.742091e-03	0	0	0	2	0	18	177
FCN2	2220	broad.mit.edu	37	9	137772750	137772750	+	Missense_Mutation	SNP	C	C	T	rs372072935	byFrequency	TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chr9:137772750C>T	ENST00000291744.6	+	1	93	c.83C>T	c.(82-84)gCg>gTg	p.A28V	FCN2_ENST00000350339.2_Missense_Mutation_p.A28V	NM_004108.2	NP_004099.2	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	28					complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|opsonization (GO:0008228)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		GCTCTCCAGGCGGCAGACACC	0.617													C|||	2	0.000399361	0.0015	0.0	5008	,	,		18130	0.0		0.0	False		,,,				2504	0.0					ENST00000291744.6	1.000000	0.460000	1.000000	0.680000	0.980000	0.879131	0.980000	1.000000																										0				20						c.(82-84)gCg>gTg		ficolin (collagen/fibrinogen domain containing lectin) 2		C	VAL/ALA,VAL/ALA	1,4403	4.2+/-10.8	0,1,2201	33.0	37.0	36.0		83,83	0.8	0.1	9		36	0,8600		0,0,4300	no	missense,missense	FCN2	NM_004108.2,NM_015837.2	64,64	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	28/314,28/276	137772750	1,13003	2202	4300	6502	SO:0001583	missense	2220	11	121366	39				g.chr9:137772750C>T	D49353	CCDS6983.1	9q34	2013-09-12	2013-09-12		ENSG00000160339	ENSG00000160339		"""Fibrinogen C domain containing"""	3624	protein-coding gene	gene with protein product	"""hucolin"", ""collagen/fibrinogen domain-containing protein 2"", ""ficolin B"", ""serum lectin p35"", ""L-ficolin"""	601624	"""ficolin (collagen/fibrinogen domain-containing lectin) 2 (hucolin)"""			8884275	Standard	XM_006717015		Approved	P35, FCNL, EBP-37, ficolin-2	uc004cfg.1	Q15485	OTTHUMG00000020892	ENST00000291744.6:c.83C>T	chr9.hg19:g.137772750C>T	ENSP00000291744:p.Ala28Val	0					FCN2_ENST00000350339.2_Missense_Mutation_p.A28V	p.A28V	NM_004108.2	NP_004099.2	1	2	3	2.054532	Q15485	FCN2_HUMAN		1	93	+		Myeloproliferative disorder(178;0.0333)	A6NFG7|A8K478|Q6IS69|Q7M4P4|Q9UC57	Missense_Mutation	SNP	ENST00000291744.6	1	1	hg19	c.83C>T	CCDS6983.1	1	.	.	.	.	.	.	.	.	.	.	C	9.967	1.224474	0.22457	2.27E-4	0.0	ENSG00000160339	ENST00000350339;ENST00000291744	T;T	0.58506	0.33;0.63	0.821	0.821	0.18799	0.821	0.821	0.18799	.	.	.	.	.	T	0.66597	0.2805	M	0.76574	2.34	0.09310	N	1	D;P	0.71674	0.998;0.718	P;B	0.60345	0.873;0.221	T	0.53823	-0.8384	9	0.62326	D	0.03	.	4.9504	0.14011	0.0:1.0:0.0:0.0	.	28;28	Q15485-2;Q15485	.;FCN2_HUMAN	V	28	ENSP00000291741:A28V;ENSP00000291744:A28V	ENSP00000291744:A28V	A	+	2	0	0	FCN2	136912571	136912571	0.001000	0.12720	0.084000	0.20598	0.162000	0.22319	0.255000	0.18333	0.713000	0.32060	0.467000	0.42956	GCG	0.165342		TCGA-IB-7885-01A-11D-2154-08	0.617	FCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054960.1	1	0	1		2	2	2	0		0	0	22		22	22	1	1.730000	-12.752400	1	0.160000	NM_004108			8	8		99	97	0		1			0	0	22	0		0.989486	0	0	0	0	0	0	8	99
TAF1	6872	broad.mit.edu	37	X	70627893	70627893	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chrX:70627893A>G	ENST00000373790.4	+	28	4324	c.4273A>G	c.(4273-4275)Atg>Gtg	p.M1425V	TAF1_ENST00000449580.1_Missense_Mutation_p.M1425V|TAF1_ENST00000423759.1_Missense_Mutation_p.M1446V|TAF1_ENST00000276072.3_Missense_Mutation_p.M1446V	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1425	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.|Interaction with ASF1A and ASF1B.|Protein kinase 2.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CACTCGGCCAATGGACCTACA	0.468																																						ENST00000373790.4	1.000000	0.640000	1.000000	0.770000	0.910000	0.896093	0.910000	1.000000																										0				124						c.(4273-4275)Atg>Gtg		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa							190.0	132.0	152.0					X																	70627893		2203	4300	6503	SO:0001583	missense	6872	0	0					g.chrX:70627893A>G		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.4273A>G	chrX.hg19:g.70627893A>G	ENSP00000362895:p.Met1425Val						TAF1_ENST00000276072.3_Missense_Mutation_p.M1446V|TAF1_ENST00000423759.1_Missense_Mutation_p.M1446V|TAF1_ENST00000449580.1_Missense_Mutation_p.M1425V	p.M1425V	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	0	1	1		P21675	TAF1_HUMAN		28	4324	+	Renal(35;0.156)	all_lung(315;0.000321)	A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	1	1	hg19	c.4273A>G	CCDS35325.1	1	.	.	.	.	.	.	.	.	.	.	.	17.06	3.293716	0.60086	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000395779;ENST00000538124;ENST00000276072	T;T;T;T	0.26067	1.76;1.76;1.76;1.76	4.17	2.92	0.33932	4.17	2.92	0.33932	Bromodomain (5);Bromodomain, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.50684	0.1630	M	0.89715	3.055	0.58432	D	0.99999	P;D;D	0.61080	0.939;0.989;0.964	P;P;P	0.62560	0.708;0.904;0.647	T	0.58934	-0.7548	10	0.72032	D	0.01	.	9.3206	0.37962	0.8382:0.0:0.0:0.1618	.	1425;1425;1446	P21675-4;P21675;P21675-2	.;TAF1_HUMAN;.	V	1425;1425;1446;131;131;1446	ENSP00000362895:M1425V;ENSP00000389000:M1425V;ENSP00000406549:M1446V;ENSP00000276072:M1446V	ENSP00000276072:M1446V	M	+	1	0	0	TAF1	70544618	70544618	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	8.757000	0.91657	1.535000	0.49220	0.345000	0.21793	ATG	0.160000		TCGA-IB-7885-01A-11D-2154-08	0.468	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	1	0	1		2	2	2	0		0	0	88		88	87	1	1.730000	-20.000000	1	0.160000	NM_004606			33	33		417	405	1		1	1		0	0	88	0		1.000000	4.201906e-01	0	11	0	8	0	33	417
PLXNB3	5365	broad.mit.edu	37	X	153035996	153035996	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-7885-01A-11D-2154-08	TCGA-IB-7885-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adfbadb2-fb88-49d5-84ea-5197b9c77c06	e89b13a9-1fd5-46a7-96f1-c0b8b932ddda	g.chrX:153035996G>A	ENST00000361971.5	+	10	2023	c.1909G>A	c.(1909-1911)Gtg>Atg	p.V637M	PLXNB3_ENST00000538282.1_Missense_Mutation_p.V247M|PLXNB3_ENST00000538966.1_Missense_Mutation_p.V660M|PLXNB3_ENST00000538776.1_Missense_Mutation_p.V290M|PLXNB3_ENST00000538543.1_Intron	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	637	PSI 2.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TCGCGCTTGCGTGGGCAGCAT	0.677																																						ENST00000361971.5	1.000000	0.440000	1.000000	0.630000	0.880000	0.840650	0.880000	1.000000																										0				32						c.(1909-1911)Gtg>Atg		plexin B3							30.0	29.0	29.0					X																	153035996		2191	4291	6482	SO:0001583	missense	5365	2	120920	31				g.chrX:153035996G>A	AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.1909G>A	chrX.hg19:g.153035996G>A	ENSP00000355378:p.Val637Met						PLXNB3_ENST00000538282.1_Missense_Mutation_p.V247M|PLXNB3_ENST00000538776.1_Missense_Mutation_p.V290M|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538966.1_Missense_Mutation_p.V660M	p.V637M	NM_005393.2	NP_005384.2	0	1	1		Q9ULL4	PLXB3_HUMAN		10	2023	+	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)		B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	1	1	hg19	c.1909G>A	CCDS14729.1	1	.	.	.	.	.	.	.	.	.	.	g	15.37	2.812203	0.50527	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538282	T;T;T;T	0.73789	4.84;4.8;4.25;-0.78	5.34	5.34	0.76211	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.87309	0.6145	M	0.85630	2.765	0.37423	D	0.9137	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.994;0.999	D	0.90934	0.4792	10	0.66056	D	0.02	.	15.3352	0.74247	0.0:0.0:1.0:0.0	.	290;319;660;637	B7Z3H9;B7Z9A5;F5H773;Q9ULL4	.;.;.;PLXB3_HUMAN	M	660;637;290;247	ENSP00000442736:V660M;ENSP00000355378:V637M;ENSP00000445569:V290M;ENSP00000441919:V247M	ENSP00000355378:V637M	V	+	1	0	0	PLXNB3	152689190	152689190	1.000000	0.71417	0.991000	0.47740	0.032000	0.12392	3.590000	0.53979	2.212000	0.71576	0.525000	0.51046	GTG	0.160000		TCGA-IB-7885-01A-11D-2154-08	0.677	PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1	1	0	1		2	2	2	0		0	0	50		50	44	1	1.730000	-13.752160	1	0.160000				9	9		120	115	1		1	1		0	0	50	0		0.993475	6.447181e-01	0	28	0	2	0	9	120
