#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
LRRC47	57470	broad.mit.edu	37	1	3697775	3697775	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:3697775G>A	ENST00000378251.1	-	7	1656	c.1629C>T	c.(1627-1629)gaC>gaT	p.D543D	RN7SL574P_ENST00000581512.1_RNA	NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	543							phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		GGGAGGGCCCGTCCTTTCCAG	0.572																																						uc001akx.1		NaN																	0				large_intestine(1)|ovary(1)	2						c.(1627-1629)GAC>GAT		leucine rich repeat containing 47							94.0	95.0	94.0					1																	3697775		2203	4300	6503	SO:0001819	synonymous_variant	57470				translation		phenylalanine-tRNA ligase activity|RNA binding	g.chr1:3697775G>A	AB033011	CCDS51.1	1p36.32	2008-02-05			ENSG00000130764	ENSG00000130764			29207	protein-coding gene	gene with protein product						10574461	Standard	NM_020710		Approved	KIAA1185, RP1-286D6.3	uc001akx.1	Q8N1G4	OTTHUMG00000003506	ENST00000378251.1:c.1629C>T	1.37:g.3697775G>A							p.D543D	NM_020710	NP_065761	Q8N1G4	LRC47_HUMAN		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)	7	1657	-	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)	543					Q9ULN5	Silent	SNP	ENST00000378251.1	37	c.1629C>T	CCDS51.1																																																																																				0.572	LRRC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009744.1		NM_020710		43	101	0	0	0	0.00361	0	43	101		
TNFRSF1B	7133	broad.mit.edu	37	1	12251945	12251945	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:12251945G>A	ENST00000376259.3	+	4	511	c.422G>A	c.(421-423)cGc>cAc	p.R141H	TNFRSF1B_ENST00000492361.1_3'UTR|MIR4632_ENST00000584158.1_RNA|TNFRSF1B_ENST00000536782.1_Missense_Mutation_p.R141H	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	141				R -> P (in Ref. 15; AAA63262). {ECO:0000305}.	aging (GO:0007568)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lipopolysaccharide (GO:0071222)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of inflammatory response (GO:0050728)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|RNA destabilization (GO:0050779)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|varicosity (GO:0043196)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)	GCGCCGCTGCGCAAGTGCCGC	0.687																																						uc001att.2		NaN																	0				liver(1)|central_nervous_system(1)|skin(1)	3						c.(421-423)CGC>CAC		tumor necrosis factor receptor 2 precursor	Etanercept(DB00005)|Infliximab(DB00065)						20.0	22.0	21.0					1																	12251945		2200	4297	6497	SO:0001583	missense	7133				apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity	g.chr1:12251945G>A	M32315	CCDS145.1	1p36.22	2008-02-05			ENSG00000028137	ENSG00000028137		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11917	protein-coding gene	gene with protein product		191191		TNFR2		2158863, 8702885	Standard	NM_001066		Approved	TNFBR, TNFR80, TNF-R75, TNF-R-II, p75, CD120b	uc001att.3	P20333	OTTHUMG00000001829	ENST00000376259.3:c.422G>A	1.37:g.12251945G>A	ENSP00000365435:p.Arg141His					TNFRSF1B_uc001atu.2_5'UTR|TNFRSF1B_uc009vnk.2_RNA	p.R141H	NM_001066	NP_001057	P20333	TNR1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	4	511	+	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	141	R -> P (in Ref. 15; AAA63262).		TNFR-Cys 3.|Extracellular (Potential).		B1AJZ3|Q16042|Q6YI29|Q9UIH1	Missense_Mutation	SNP	ENST00000376259.3	37	c.422G>A	CCDS145.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.335441	0.60853	.	.	ENSG00000028137	ENST00000376259;ENST00000400863;ENST00000536782	T;T	0.73575	0.12;-0.76	4.12	0.927	0.19437	TNFR/CD27/30/40/95 cysteine-rich region (2);	0.533203	0.19935	N	0.102761	T	0.63165	0.2488	L	0.45228	1.405	0.09310	N	1	D	0.63880	0.993	B	0.44315	0.446	T	0.56498	-0.7969	10	0.49607	T	0.09	-7.3914	5.9766	0.19382	0.1067:0.3715:0.5219:0.0	.	141	P20333	TNR1B_HUMAN	H	141	ENSP00000365435:R141H;ENSP00000440425:R141H	ENSP00000365435:R141H	R	+	2	0	TNFRSF1B	12174532	0.476000	0.25901	0.365000	0.25901	0.120000	0.20174	1.097000	0.30988	0.504000	0.28082	0.555000	0.69702	CGC		0.687	TNFRSF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005133.1		NM_001066		69	59	0	0	0	0.00361	0	69	59		
PDPN	10630	broad.mit.edu	37	1	13933692	13933692	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:13933692A>T	ENST00000509009.1	+	2	121	c.77A>T	c.(76-78)gAc>gTc	p.D26V	PDPN_ENST00000487038.1_5'UTR|PDPN_ENST00000294489.6_Missense_Mutation_p.D107V|PDPN_ENST00000376061.4_5'UTR|PDPN_ENST00000475043.1_5'UTR|PDPN_ENST00000513143.1_5'UTR|PDPN_ENST00000376057.4_Missense_Mutation_p.D107V					podoplanin											endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		CCAGAAGATGACACTGAGACT	0.517																																						uc001avd.2		NaN																	0				ovary(2)	2						c.(319-321)GAC>GTC		lung type-I cell membrane-associated							91.0	87.0	88.0					1																	13933692		2203	4300	6503	SO:0001583	missense	10630				cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane		g.chr1:13933692A>T	AB127958, AY194238	CCDS30602.1, CCDS41266.1, CCDS44060.1, CCDS53270.1	1p36.21	2008-02-05			ENSG00000162493	ENSG00000162493			29602	protein-coding gene	gene with protein product	"""lung type I cell membrane associated glycoprotein"""	608863				10393083, 9651190	Standard	NM_006474		Approved	T1A-2, Gp38, aggrus, GP40, PA2.26	uc001avd.3	Q86YL7	OTTHUMG00000007912	ENST00000509009.1:c.77A>T	1.37:g.13933692A>T	ENSP00000422977:p.Asp26Val					PDPN_uc001avc.2_Missense_Mutation_p.D107V|PDPN_uc009vob.2_5'UTR|PDPN_uc009voc.2_5'UTR|PDPN_uc001ave.2_5'UTR|PDPN_uc001avf.2_5'UTR	p.D107V	NM_006474	NP_006465	Q86YL7	PDPN_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)	2	369	+	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	31			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000509009.1	37	c.320A>T		.	.	.	.	.	.	.	.	.	.	A	13.11	2.139967	0.37728	.	.	ENSG00000162493	ENST00000294489;ENST00000376057;ENST00000510906;ENST00000509009	T;T;T;T	0.37752	1.18;1.18;1.18;1.18	5.0	4.24E-4	0.14042	.	0.726461	0.12764	N	0.441080	T	0.24084	0.0583	L	0.48642	1.525	0.09310	N	0.999999	P;P	0.37573	0.6;0.6	B;B	0.35971	0.215;0.215	T	0.24154	-1.0168	10	0.62326	D	0.03	-0.6383	0.5015	0.00580	0.4417:0.1813:0.2023:0.1747	.	107;107	Q86YL7-3;Q86YL7-4	.;.	V	107;107;98;26	ENSP00000294489:D107V;ENSP00000365225:D107V;ENSP00000426302:D98V;ENSP00000422977:D26V	ENSP00000294489:D107V	D	+	2	0	PDPN	13806279	0.037000	0.19845	0.001000	0.08648	0.163000	0.22366	0.151000	0.16283	0.073000	0.16731	0.533000	0.62120	GAC		0.517	PDPN-009	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367736.1		NM_006474		34	52	0	0	0	0.006999	0	34	52		
EPHA2	1969	broad.mit.edu	37	1	16456035	16456035	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:16456035G>T	ENST00000358432.5	-	16	2873	c.2719C>A	c.(2719-2721)Cgc>Agc	p.R907S		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	907	Negatively regulates interaction with ARHGEF16.|SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	GACACCGTGCGGAAGGGCACC	0.637																																						uc001aya.1		NaN																	0				lung(3)|central_nervous_system(3)|stomach(2)|ovary(2)	10						c.(2719-2721)CGC>AGC		ephrin receptor EphA2 precursor	Dasatinib(DB01254)						50.0	48.0	49.0					1																	16456035		2203	4299	6502	SO:0001583	missense	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16456035G>T	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.2719C>A	1.37:g.16456035G>T	ENSP00000351209:p.Arg907Ser						p.R907S	NM_004431	NP_004422	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	16	2856	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	907			SAM.|Cytoplasmic (Potential).|Negatively regulates interaction with ARHGEF16.		B5A968|Q8N3Z2	Missense_Mutation	SNP	ENST00000358432.5	37	c.2719C>A	CCDS169.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.685019	0.68157	.	.	ENSG00000142627	ENST00000358432	T	0.47528	0.84	5.78	5.78	0.91487	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.110208	0.41294	D	0.000911	T	0.50871	0.1641	L	0.31476	0.935	0.53688	D	0.999973	D	0.71674	0.998	D	0.70716	0.97	T	0.35624	-0.9781	10	0.07030	T	0.85	.	13.5227	0.61576	0.0:0.0:0.844:0.156	.	907	P29317	EPHA2_HUMAN	S	907	ENSP00000351209:R907S	ENSP00000351209:R907S	R	-	1	0	EPHA2	16328622	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.445000	0.35079	2.738000	0.93877	0.591000	0.81541	CGC		0.637	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1		NM_004431		74	59	1	0	1.66795e-42	0.00361	1.91836e-42	74	59		
WASF2	10163	broad.mit.edu	37	1	27745578	27745578	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:27745578C>T	ENST00000430629.2	-	3	357	c.142G>A	c.(142-144)Gag>Aag	p.E48K	WASF2_ENST00000536657.1_Missense_Mutation_p.E48K	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	48					actin cytoskeleton organization (GO:0030036)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of lamellipodium assembly (GO:0010592)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	actin binding (GO:0003779)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		AAAATGTCCTCTGCATATTTA	0.443																																						uc001bof.1		NaN																	0				skin(2)|ovary(1)	3						c.(142-144)GAG>AAG		WAS protein family, member 2							87.0	88.0	88.0					1																	27745578		2203	4300	6503	SO:0001583	missense	10163				actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding	g.chr1:27745578C>T	AB026542	CCDS304.1, CCDS55582.1	1p36.11	2011-05-10			ENSG00000158195	ENSG00000158195			12733	protein-coding gene	gene with protein product		605875				10381382	Standard	NM_006990		Approved	WAVE2, SCAR2	uc001bof.2	Q9Y6W5	OTTHUMG00000003393	ENST00000430629.2:c.142G>A	1.37:g.27745578C>T	ENSP00000396211:p.Glu48Lys					WASF2_uc010ofl.1_Missense_Mutation_p.E48K	p.E48K	NM_006990	NP_008921	Q9Y6W5	WASF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)	3	358	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	48					B4DZN0|O60794|Q9UDY7	Missense_Mutation	SNP	ENST00000430629.2	37	c.142G>A	CCDS304.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.983834	0.74474	.	.	ENSG00000158195	ENST00000430629;ENST00000536657	T;T	0.67345	-0.26;-0.26	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.85647	0.5745	M	0.89904	3.07	0.80722	D	1	D;D	0.89917	0.971;1.0	P;D	0.79108	0.821;0.992	D	0.88220	0.2896	10	0.72032	D	0.01	-13.5414	18.9778	0.92745	0.0:1.0:0.0:0.0	.	48;48	B4DZN0;Q9Y6W5	.;WASF2_HUMAN	K	48	ENSP00000396211:E48K;ENSP00000439883:E48K	ENSP00000396211:E48K	E	-	1	0	WASF2	27618165	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.440000	0.80464	2.567000	0.86603	0.650000	0.86243	GAG		0.443	WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009516.1		NM_006990		7	35	0	0	0	0.008291	0	7	35		
STX12	23673	broad.mit.edu	37	1	28099877	28099877	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:28099877G>C	ENST00000373943.4	+	1	184	c.59G>C	c.(58-60)cGg>cCg	p.R20P	STX12_ENST00000468761.1_3'UTR|RP3-426I6.5_ENST00000602607.1_RNA	NM_177424.2	NP_803173.1	Q86Y82	STX12_HUMAN	syntaxin 12	20					cholesterol efflux (GO:0033344)|intracellular protein transport (GO:0006886)|protein stabilization (GO:0050821)|synaptic vesicle exocytosis (GO:0016079)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCAGCTCCGGGACTTCAGC	0.657																																					Ovarian(5;5 342 2097 9488 34083)	uc001bou.3		NaN																	0				breast(1)|central_nervous_system(1)	2						c.(58-60)CGG>CCG		syntaxin 12							17.0	22.0	20.0					1																	28099877		2203	4293	6496	SO:0001583	missense	23673				cholesterol efflux|intracellular protein transport|protein stabilization|vesicle-mediated transport	Golgi apparatus|integral to membrane|membrane raft|phagocytic vesicle	SNAP receptor activity	g.chr1:28099877G>C	BC046999	CCDS310.1	1p35.3	2008-05-14			ENSG00000117758	ENSG00000117758			11430	protein-coding gene	gene with protein product		606892				9507000	Standard	NM_177424		Approved	STX13, STX14	uc001bou.4	Q86Y82	OTTHUMG00000003730	ENST00000373943.4:c.59G>C	1.37:g.28099877G>C	ENSP00000363054:p.Arg20Pro						p.R20P	NM_177424	NP_803173	Q86Y82	STX12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649)	1	184	+		Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	20			Cytoplasmic (Potential).		B1AJQ7|O95564	Missense_Mutation	SNP	ENST00000373943.4	37	c.59G>C	CCDS310.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.681818	0.88542	.	.	ENSG00000117758	ENST00000373943;ENST00000440806	T	0.18810	2.19	5.32	5.32	0.75619	t-SNARE (1);Syntaxin, N-terminal (2);	0.174819	0.47852	D	0.000209	T	0.32585	0.0834	L	0.51422	1.61	0.28973	N	0.88911	P	0.48089	0.905	P	0.56865	0.808	T	0.07139	-1.0788	10	0.15066	T	0.55	-6.5284	14.3688	0.66826	0.0:0.0:1.0:0.0	.	20	Q86Y82	STX12_HUMAN	P	20	ENSP00000363054:R20P	ENSP00000363054:R20P	R	+	2	0	STX12	27972464	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.506000	0.60428	2.760000	0.94817	0.655000	0.94253	CGG		0.657	STX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010519.1		NM_177424		37	39	0	0	0	0.006999	0	37	39		
EPB41	2035	broad.mit.edu	37	1	29314319	29314319	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:29314319G>A	ENST00000343067.4	+	2	497	c.370G>A	c.(370-372)Gaa>Aaa	p.E124K	EPB41_ENST00000373798.1_Missense_Mutation_p.E124K|EPB41_ENST00000347529.3_Missense_Mutation_p.E124K|EPB41_ENST00000373800.3_5'UTR|EPB41_ENST00000398863.2_Missense_Mutation_p.E124K|EPB41_ENST00000356093.2_Missense_Mutation_p.E124K|EPB41_ENST00000373797.1_Missense_Mutation_p.E124K|Y_RNA_ENST00000383977.1_RNA|EPB41_ENST00000349460.4_5'UTR	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	124					actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		CAGTCTTGATGAAGAGATCAT	0.423																																						uc001brm.1		NaN																	0				ovary(1)	1						c.(370-372)GAA>AAA		erythrocyte membrane protein band 4.1							127.0	134.0	132.0					1																	29314319		2203	4300	6503	SO:0001583	missense	2035				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton	g.chr1:29314319G>A	BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"""elliptocytosis 1, RH-linked"""	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.370G>A	1.37:g.29314319G>A	ENSP00000345259:p.Glu124Lys					EPB41_uc001brg.1_5'UTR|EPB41_uc001brh.1_5'UTR|EPB41_uc001bri.1_Missense_Mutation_p.E124K|EPB41_uc001brj.1_5'UTR|EPB41_uc009vtk.1_Missense_Mutation_p.E124K|EPB41_uc001brk.2_Missense_Mutation_p.E124K|EPB41_uc001brl.1_Missense_Mutation_p.E124K|EPB41_uc009vtl.1_5'UTR|EPB41_uc009vtm.1_5'UTR	p.E124K	NM_203342	NP_976217	P11171	41_HUMAN		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)	1	377	+		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)	124					B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Missense_Mutation	SNP	ENST00000343067.4	37	c.370G>A	CCDS53288.1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.006826	0.74932	.	.	ENSG00000159023	ENST00000358989;ENST00000343067;ENST00000356093;ENST00000398863;ENST00000398861;ENST00000398865;ENST00000347529;ENST00000373798;ENST00000373797	D;D;D;D;D;D	0.84873	-1.91;-1.89;-1.74;-1.77;-1.91;-1.89	5.25	5.25	0.73442	.	0.691848	0.14114	N	0.340498	T	0.78207	0.4247	N	0.19112	0.55	0.42729	D	0.993708	B;B;B;P;B	0.34462	0.159;0.034;0.374;0.454;0.374	B;B;B;B;B	0.32980	0.075;0.044;0.156;0.156;0.156	T	0.77083	-0.2719	10	0.42905	T	0.14	.	17.884	0.88849	0.0:0.0:1.0:0.0	.	124;124;124;124;124	C9JTS2;P11171;P11171-2;P11171-7;P11171-5	.;41_HUMAN;.;.;.	K	141;124;124;124;124;124;124;124;124	ENSP00000345259:E124K;ENSP00000348397:E124K;ENSP00000381839:E124K;ENSP00000290100:E124K;ENSP00000362904:E124K;ENSP00000362903:E124K	ENSP00000345259:E124K	E	+	1	0	EPB41	29186906	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.184000	0.89702	2.446000	0.82766	0.558000	0.71614	GAA		0.423	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010312.1		NM_203342		13	36	0	0	0	0.003163	0	13	36		
CLSPN	63967	broad.mit.edu	37	1	36235553	36235553	+	5'Flank	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:36235553C>T	ENST00000318121.3	-	0	0				CLSPN_ENST00000373220.3_5'Flank|CLSPN_ENST00000251195.5_5'UTR|CLSPN_ENST00000520551.1_5'Flank	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin						activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCCGCCGTCTCCAGCCCAGCA	0.642																																						uc001bzi.2		NaN																	0				breast(2)|ovary(2)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)	8						c.e1-1		claspin							36.0	48.0	45.0					1																	36235553		692	1591	2283	SO:0001631	upstream_gene_variant	63967				activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding	g.chr1:36235553C>T	AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"""claspin homolog (Xenopus laevis)"""			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168		1.37:g.36235553C>T	Exception_encountered					CLSPN_uc009vux.2_Splice_Site		NM_022111	NP_071394	Q9HAW4	CLSPN_HUMAN			1	1	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)						A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Splice_Site	SNP	ENST00000318121.3	37	c.-79_splice	CCDS396.1																																																																																				0.642	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377857.1		NM_022111		9	29	0	0	0	0.004482	0	9	29		
AGO1	26523	broad.mit.edu	37	1	36367599	36367599	+	Silent	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:36367599C>A	ENST00000373204.4	+	10	1404	c.1191C>A	c.(1189-1191)atC>atA	p.I397I	AGO1_ENST00000373206.1_Silent_p.I322I	NM_012199.2	NP_036331.1	Q9UL18	AGO1_HUMAN	argonaute RISC catalytic component 1	397					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process (GO:0000956)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										AATTTGGGATCAAAGTGAAGG	0.542																																						uc001bzl.2		NaN																	0				ovary(2)|skin(1)	3						c.(1189-1191)ATC>ATA		eukaryotic translation initiation factor 2C, 1							92.0	88.0	89.0					1																	36367599		2203	4300	6503	SO:0001819	synonymous_variant	26523				negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	protein binding|RNA binding	g.chr1:36367599C>A	AF093097	CCDS398.1	1p34.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000092847	ENSG00000092847		"""Argonaute/PIWI family"""	3262	protein-coding gene	gene with protein product	"""argonaute 1"""	606228	"""eukaryotic translation initiation factor 2C, 1"""	EIF2C1		10534406, 12906857	Standard	NM_012199		Approved	hAGO1	uc001bzl.3	Q9UL18	OTTHUMG00000007381	ENST00000373204.4:c.1191C>A	1.37:g.36367599C>A						EIF2C1_uc001bzk.2_Silent_p.I322I|EIF2C1_uc009vuy.2_Intron	p.I397I	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN			10	1404	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	397					Q5TA57|Q6P4S0	Silent	SNP	ENST00000373204.4	37	c.1191C>A	CCDS398.1																																																																																				0.542	AGO1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019337.3				38	64	1	0	1.22674e-20	0.00874	1.35988e-20	38	64		
KIAA0754	643314	broad.mit.edu	37	1	39876847	39876847	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:39876847C>G	ENST00000530275.1	+	1	697	c.502C>G	c.(502-504)Cat>Gat	p.H168D	MACF1_ENST00000289893.4_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000372915.3_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	168										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCCAGAATTGCATGTTCTCAT	0.522											OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc009vvt.1		NaN																	0					0						c.(910-912)CAT>GAT		hypothetical protein LOC643314							52.0	51.0	52.0					1																	39876847		1952	4148	6100	SO:0001583	missense	643314							g.chr1:39876847C>G			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.502C>G	1.37:g.39876847C>G	ENSP00000431179:p.His168Asp		OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	889	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron	p.H304D	NM_015038	NP_055853	O94854	K0754_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	1672	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	168					E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37	c.910C>G		.	.	.	.	.	.	.	.	.	.	C	12.66	2.004212	0.35320	.	.	ENSG00000255103	ENST00000530275	T	0.24538	1.85	4.93	0.173	0.15036	.	.	.	.	.	T	0.14442	0.0349	N	0.24115	0.695	0.09310	N	1	B	0.21225	0.053	B	0.18561	0.022	T	0.27640	-1.0068	9	0.87932	D	0	.	3.3208	0.07049	0.4309:0.2727:0.2157:0.0807	.	168	O94854	K0754_HUMAN	D	168	ENSP00000431179:H168D	ENSP00000431179:H168D	H	+	1	0	RP4-562N20.1	39649434	0.586000	0.26782	0.912000	0.35992	0.912000	0.54170	-0.036000	0.12185	0.442000	0.26555	-0.137000	0.14449	CAT		0.522	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1		NM_015038		6	15	0	0	0	0.004482	0	6	15		
SLFNL1	200172	broad.mit.edu	37	1	41486281	41486281	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:41486281C>T	ENST00000359345.1	-	1	2628	c.52G>A	c.(52-54)Gag>Aag	p.E18K	SLFNL1_ENST00000372613.2_Missense_Mutation_p.E18K|SLFNL1_ENST00000302946.8_Missense_Mutation_p.E18K|SLFNL1_ENST00000439569.2_Missense_Mutation_p.E18K|SLFNL1_ENST00000372611.1_Missense_Mutation_p.E18K|SLFNL1_ENST00000397197.2_Missense_Mutation_p.E18K	NM_144990.3	NP_659427.3	Q499Z3	SLNL1_HUMAN	schlafen-like 1	18							ATP binding (GO:0005524)			endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				CCCCAGGACTCCATGAAGGGC	0.607																																						uc001cgm.1		NaN																	0				skin(1)	1						c.(52-54)GAG>AAG		schlafen-like 1							44.0	45.0	44.0					1																	41486281		2203	4300	6503	SO:0001583	missense	200172						ATP binding	g.chr1:41486281C>T	BC022037	CCDS460.1, CCDS72766.1	1p34.2	2008-02-05			ENSG00000171790	ENSG00000171790			26313	protein-coding gene	gene with protein product							Standard	NM_144990		Approved	FLJ23878	uc001cgm.2	Q499Z3	OTTHUMG00000005719	ENST00000359345.1:c.52G>A	1.37:g.41486281C>T	ENSP00000352299:p.Glu18Lys					SLFNL1_uc009vwf.1_Missense_Mutation_p.E18K|SLFNL1_uc001cgn.1_Missense_Mutation_p.E18K|SLFNL1_uc009vwg.1_Missense_Mutation_p.E18K	p.E18K	NM_144990	NP_659427	Q499Z3	SLNL1_HUMAN			2	272	-	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)	18					A8K8D1|Q49AG8|Q5VW72|Q5VW74|Q8N7V7|Q8TCH6|Q8WVZ8	Missense_Mutation	SNP	ENST00000359345.1	37	c.52G>A	CCDS460.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.992136	0.35131	.	.	ENSG00000171790	ENST00000302946;ENST00000372613;ENST00000372611;ENST00000359345;ENST00000439569;ENST00000397197	T;T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26;0.26	4.86	2.94	0.34122	.	0.681694	0.13352	N	0.394370	T	0.46678	0.1405	L	0.48642	1.525	0.09310	N	1	B;B;B	0.32829	0.386;0.206;0.267	B;B;B	0.28011	0.085;0.077;0.039	T	0.36040	-0.9764	10	0.52906	T	0.07	-6.0956	8.0779	0.30726	0.0:0.8099:0.0:0.1901	.	18;18;18	Q499Z3-3;Q499Z3-2;Q499Z3	.;.;SLNL1_HUMAN	K	18	ENSP00000304401:E18K;ENSP00000361696:E18K;ENSP00000361694:E18K;ENSP00000352299:E18K;ENSP00000398938:E18K;ENSP00000380381:E18K	ENSP00000304401:E18K	E	-	1	0	SLFNL1	41258868	0.133000	0.22466	0.005000	0.12908	0.008000	0.06430	0.850000	0.27737	0.624000	0.30286	0.561000	0.74099	GAG		0.607	SLFNL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015650.1		NM_144990		67	62	0	0	0	0.00361	0	67	62		
TMEM53	79639	broad.mit.edu	37	1	45120323	45120323	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:45120323C>T	ENST00000372237.3	-	3	905	c.742G>A	c.(742-744)Gtg>Atg	p.V248M	TMEM53_ENST00000372243.3_Intron|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000372242.3_Intron|TMEM53_ENST00000372235.3_Missense_Mutation_p.V218M|TMEM53_ENST00000476724.1_5'UTR	NM_024587.2	NP_078863.2	Q6P2H8	TMM53_HUMAN	transmembrane protein 53	248						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10	Acute lymphoblastic leukemia(166;0.155)					GCAGATGACACGAAATCCACA	0.592																																						uc001cmc.2		NaN																	0				ovary(2)	2						c.(742-744)GTG>ATG		transmembrane protein 53							104.0	112.0	109.0					1																	45120323		2203	4300	6503	SO:0001583	missense	79639					integral to membrane		g.chr1:45120323C>T		CCDS511.1, CCDS72773.1	1p34.1	2008-02-26			ENSG00000126106	ENSG00000126106			26186	protein-coding gene	gene with protein product						12958361	Standard	XR_425151		Approved	FLJ22353, NET4	uc001cmc.3	Q6P2H8	OTTHUMG00000007833	ENST00000372237.3:c.742G>A	1.37:g.45120323C>T	ENSP00000361311:p.Val248Met					TMEM53_uc001cmb.1_Intron|TMEM53_uc001cmd.2_Missense_Mutation_p.V175M|TMEM53_uc009vxh.1_Missense_Mutation_p.V131M|TMEM53_uc010ola.1_Missense_Mutation_p.V131M	p.V248M	NM_024587	NP_078863	Q6P2H8	TMM53_HUMAN			3	778	-	Acute lymphoblastic leukemia(166;0.155)		248					B4DKG0|Q5JPH2|Q6IA07|Q9H6E2	Missense_Mutation	SNP	ENST00000372237.3	37	c.742G>A	CCDS511.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.116368	0.37339	.	.	ENSG00000126106	ENST00000372237;ENST00000372235	.	.	.	5.54	0.414	0.16406	.	0.743551	0.13401	N	0.390652	T	0.52208	0.1720	M	0.65975	2.015	0.09310	N	1	D	0.76494	0.999	D	0.65010	0.931	T	0.33343	-0.9872	9	0.54805	T	0.06	.	4.1819	0.10380	0.2971:0.3804:0.0:0.3225	.	248	Q6P2H8	TMM53_HUMAN	M	248;218	.	ENSP00000361309:V218M	V	-	1	0	TMEM53	44892910	0.000000	0.05858	0.643000	0.29450	0.550000	0.35303	0.118000	0.15605	0.703000	0.31848	0.563000	0.77884	GTG		0.592	TMEM53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021599.1		NM_024587		118	134	0	0	0	0.00361	0	118	134		
NASP	4678	broad.mit.edu	37	1	46073334	46073334	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:46073334C>A	ENST00000350030.3	+	6	838	c.751C>A	c.(751-753)Caa>Aaa	p.Q251K	NASP_ENST00000351223.3_Intron|NASP_ENST00000537798.1_Missense_Mutation_p.Q187K|NASP_ENST00000372052.4_Intron|NASP_ENST00000402363.3_Missense_Mutation_p.Q253K	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	251	Glu-rich (acidic).				blastocyst development (GO:0001824)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone exchange (GO:0043486)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	Hsp90 protein binding (GO:0051879)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					AACTGATGTCCAAGAAGAGTG	0.478																																						uc001coi.1		NaN																	0				ovary(1)	1						c.(751-753)CAA>AAA		nuclear autoantigenic sperm protein isoform 2							45.0	47.0	46.0					1																	46073334		2203	4300	6503	SO:0001583	missense	4678				blastocyst development|cell cycle|cell proliferation|DNA replication|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding	g.chr1:46073334C>A	M97856	CCDS524.1, CCDS525.1, CCDS55597.1	1p34.1	2013-01-10			ENSG00000132780	ENSG00000132780		"""Tetratricopeptide (TTC) repeat domain containing"""	7644	protein-coding gene	gene with protein product		603185				1426632	Standard	NM_002482		Approved	FLB7527, FLJ31599, FLJ35510, MGC19722, MGC20372, MGC2297, DKFZp547F162, PRO1999	uc001coi.2	P49321	OTTHUMG00000007826	ENST00000350030.3:c.751C>A	1.37:g.46073334C>A	ENSP00000255120:p.Gln251Lys					NASP_uc010olq.1_Missense_Mutation_p.Q214K|NASP_uc001coh.1_Missense_Mutation_p.Q253K|NASP_uc001coj.1_Intron|NASP_uc010olr.1_Missense_Mutation_p.Q187K|NASP_uc001cok.1_Missense_Mutation_p.Q134K	p.Q251K	NM_002482	NP_002473	P49321	NASP_HUMAN			6	853	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)		251			Glu-rich (acidic).		A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	Missense_Mutation	SNP	ENST00000350030.3	37	c.751C>A	CCDS524.1	.	.	.	.	.	.	.	.	.	.	C	3.341	-0.134633	0.06711	.	.	ENSG00000132780	ENST00000537798;ENST00000402363;ENST00000341288;ENST00000350030;ENST00000470768	D;D;D;D	0.94457	-3.43;-3.43;-3.43;-3.43	5.19	3.24	0.37175	.	0.896122	0.09977	N	0.731520	D	0.90089	0.6904	L	0.29908	0.895	0.09310	N	1	B;B;B;B;B	0.26935	0.053;0.038;0.164;0.012;0.021	B;B;B;B;B	0.22601	0.032;0.016;0.04;0.01;0.022	T	0.77292	-0.2642	9	.	.	.	0.005	13.8943	0.63761	0.0:0.7078:0.2922:0.0	.	187;251;151;251;253	F5H3J2;Q53H03;B4DS57;P49321;P49321-3	.;.;.;NASP_HUMAN;.	K	187;253;151;251;214	ENSP00000438871:Q187K;ENSP00000384529:Q253K;ENSP00000255120:Q251K;ENSP00000436924:Q214K	.	Q	+	1	0	NASP	45845921	0.038000	0.19896	0.179000	0.23059	0.059000	0.15707	0.254000	0.18314	0.791000	0.33826	0.650000	0.86243	CAA		0.478	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021533.2		NM_002482		3	16	1	0	2.56e-06	0.009096	2.64e-06	3	16		
MAST2	23139	broad.mit.edu	37	1	46497147	46497147	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:46497147C>A	ENST00000361297.2	+	24	3360	c.3077C>A	c.(3076-3078)gCc>gAc	p.A1026D	MAST2_ENST00000372009.2_Missense_Mutation_p.A956D	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GTGCGTAGGGCCCGCCACCGG	0.627																																						uc001cov.2		NaN																	0				ovary(5)|lung(3)|stomach(2)|breast(1)	11						c.(3076-3078)GCC>GAC		microtubule associated serine/threonine kinase							30.0	35.0	34.0					1																	46497147		2037	4185	6222	SO:0001583	missense	23139				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	g.chr1:46497147C>A	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.3077C>A	1.37:g.46497147C>A	ENSP00000354671:p.Ala1026Asp					MAST2_uc001cow.2_Missense_Mutation_p.A1026D|MAST2_uc001cpa.2_RNA	p.A1026D	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN			24	3360	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		1026						Missense_Mutation	SNP	ENST00000361297.2	37	c.3077C>A	CCDS41326.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.987351	0.93106	.	.	ENSG00000086015	ENST00000361297;ENST00000372009	T;T	0.66815	-0.2;-0.23	4.02	4.02	0.46733	.	0.000000	0.85682	D	0.000000	T	0.81583	0.4853	M	0.77103	2.36	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.85130	0.997;0.969	T	0.82313	-0.0519	10	0.42905	T	0.14	-17.2803	17.4778	0.87664	0.0:1.0:0.0:0.0	.	956;1026	E7ERL6;Q6P0Q8	.;MAST2_HUMAN	D	1026;956	ENSP00000354671:A1026D;ENSP00000361079:A956D	ENSP00000354671:A1026D	A	+	2	0	MAST2	46269734	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.821000	0.69257	2.523000	0.85059	0.655000	0.94253	GCC		0.627	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1		NM_015112		32	96	1	0	1.57351e-24	0.003755	1.75791e-24	32	96		
MAST2	23139	broad.mit.edu	37	1	46501315	46501315	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:46501315G>C	ENST00000361297.2	+	29	5257	c.4974G>C	c.(4972-4974)tgG>tgC	p.W1658C	MAST2_ENST00000372009.2_Missense_Mutation_p.W1468C	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					TGTGGTCCTGGAAATCCCTTA	0.572																																						uc001cov.2		NaN																	0				ovary(5)|lung(3)|stomach(2)|breast(1)	11						c.(4972-4974)TGG>TGC		microtubule associated serine/threonine kinase							53.0	56.0	55.0					1																	46501315		1992	4156	6148	SO:0001583	missense	23139				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	g.chr1:46501315G>C	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.4974G>C	1.37:g.46501315G>C	ENSP00000354671:p.Trp1658Cys					MAST2_uc001cow.2_Missense_Mutation_p.W1657C|MAST2_uc001cpa.2_RNA	p.W1658C	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN			29	5257	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		1658						Missense_Mutation	SNP	ENST00000361297.2	37	c.4974G>C	CCDS41326.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	9.169|9.169	1.020768|1.020768	0.19433|0.19433	.|.	.|.	ENSG00000086015|ENSG00000086015	ENST00000432341|ENST00000361297;ENST00000372009	.|T;T	.|0.75821	.|-0.32;-0.97	5.55|5.55	3.61|3.61	0.41365|0.41365	.|.	.|0.313099	.|0.23696	.|N	.|0.045477	T|T	0.66733|0.66733	0.2819|0.2819	N|N	0.24115|0.24115	0.695|0.695	0.41028|0.41028	D|D	0.985139|0.985139	.|D;D	.|0.64830	.|0.994;0.994	.|P;P	.|0.51355	.|0.667;0.667	T|T	0.69038|0.69038	-0.5251|-0.5251	6|10	0.46703|0.72032	T|D	0.11|0.01	-1.3722|-1.3722	7.9845|7.9845	0.30202|0.30202	0.0879:0.1597:0.7524:0.0|0.0879:0.1597:0.7524:0.0	.|.	.|1468;1658	.|E7ERL6;Q6P0Q8	.|.;MAST2_HUMAN	Q|C	627|1658;1468	.|ENSP00000354671:W1658C;ENSP00000361079:W1468C	ENSP00000396690:E627Q|ENSP00000354671:W1658C	E|W	+|+	1|3	0|0	MAST2|MAST2	46273902|46273902	0.994000|0.994000	0.37717|0.37717	0.962000|0.962000	0.40283|0.40283	0.099000|0.099000	0.18886|0.18886	1.645000|1.645000	0.37238|0.37238	1.296000|1.296000	0.44742|0.44742	0.556000|0.556000	0.70494|0.70494	GAA|TGG		0.572	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1		NM_015112		18	49	0	0	0	0.002299	0	18	49		
UQCRH	7388	broad.mit.edu	37	1	46769446	46769446	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:46769446T>C	ENST00000311672.5	+	1	144	c.8T>C	c.(7-9)cTg>cCg	p.L3P	LRRC41_ENST00000343304.6_5'Flank|UQCRH_ENST00000486951.1_3'UTR	NM_001089591.1|NM_006004.2	NP_001083060.1|NP_005995.2	P07919	QCR6_HUMAN	ubiquinol-cytochrome c reductase hinge protein	3					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|protein heterooligomerization (GO:0051291)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	ubiquinol-cytochrome-c reductase activity (GO:0008121)			large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	4	Acute lymphoblastic leukemia(166;0.155)					GACATGGGACTGGAGGACGAG	0.552																																						uc001cpp.2		NaN																	0					0						c.(7-9)CTG>CCG		ubiquinol-cytochrome c reductase hinge protein							97.0	82.0	87.0					1																	46769446		2203	4300	6503	SO:0001583	missense	7388				aerobic respiration|mitochondrial electron transport, ubiquinol to cytochrome c		ubiquinol-cytochrome-c reductase activity	g.chr1:46769446T>C	BC001934	CCDS30704.1	1p34.1	2011-07-04			ENSG00000173660	ENSG00000173660	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12590	protein-coding gene	gene with protein product	"""ubiquinol-cytochrome c reductase, complex III subunit VIII"""	613844				2826252	Standard	XM_005271167		Approved	QCR6, UQCR8	uc001cpp.3	P07919	OTTHUMG00000007813	ENST00000311672.5:c.8T>C	1.37:g.46769446T>C	ENSP00000309565:p.Leu3Pro					LRRC41_uc001cpn.2_5'Flank|LRRC41_uc010omb.1_5'Flank|LRRC41_uc001cpo.1_5'Flank|UQCRH_uc001cpq.2_RNA	p.L3P	NM_006004	NP_005995	P07919	QCR6_HUMAN			1	67	+	Acute lymphoblastic leukemia(166;0.155)		3					B2R4V9|D3DQ18|Q5TDF6|Q6LDB8|Q9BQ91	Missense_Mutation	SNP	ENST00000311672.5	37	c.8T>C	CCDS30704.1	.	.	.	.	.	.	.	.	.	.	T	19.37	3.815240	0.70912	.	.	ENSG00000173660	ENST00000311672	T	0.51574	0.7	6.06	4.88	0.63580	.	0.230741	0.35970	N	0.002865	T	0.49133	0.1539	.	.	.	0.49051	D	0.999748	D	0.55385	0.971	P	0.47299	0.543	T	0.54616	-0.8267	9	0.72032	D	0.01	-2.1477	10.9137	0.47124	0.0:0.0:0.1677:0.8323	.	3	P07919	QCR6_HUMAN	P	3	ENSP00000309565:L3P	ENSP00000309565:L3P	L	+	2	0	UQCRH	46542033	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.341000	0.43983	2.324000	0.78689	0.533000	0.62120	CTG		0.552	UQCRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021451.1		NM_006004		20	60	0	0	0	0.005443	0	20	60		
ATPAF1	64756	broad.mit.edu	37	1	47110887	47110887	+	Silent	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:47110887A>G	ENST00000371937.4	-	7	734	c.630T>C	c.(628-630)ttT>ttC	p.F210F	ATPAF1_ENST00000542495.1_Silent_p.F59F|ATPAF1_ENST00000576409.1_Silent_p.F233F|ATPAF1_ENST00000532925.1_Silent_p.F122F|ATPAF1_ENST00000574428.1_Intron|ATPAF1_ENST00000329231.4_Intron	NM_022745.4	NP_073582.3	Q5TC12	ATPF1_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 1	210					protein complex assembly (GO:0006461)	mitochondrion (GO:0005739)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Acute lymphoblastic leukemia(166;0.155)					ATTGTCCTACAAAAAACTCAT	0.398																																					Melanoma(138;107 1777 21672 30337 52312)	uc001cqh.2		NaN																	0					0						c.(628-630)TTT>TTC		ATP synthase mitochondrial F1 complex assembly							180.0	170.0	173.0					1																	47110887		2203	4300	6503	SO:0001819	synonymous_variant	64756				protein complex assembly	mitochondrion	protein binding	g.chr1:47110887A>G	AK026004	CCDS541.1, CCDS41327.1, CCDS541.2, CCDS41327.2, CCDS57997.1, CCDS57998.1	1p33-p32.3	2012-10-12			ENSG00000123472	ENSG00000123472		"""Mitochondrial respiratory chain complex assembly factors"""	18803	protein-coding gene	gene with protein product		608917				11410595	Standard	NM_022745		Approved	FLJ22351, Atp11p, ATP11	uc001cqh.4	Q5TC12	OTTHUMG00000007988	ENST00000371937.4:c.630T>C	1.37:g.47110887A>G						ATPAF1_uc001cqg.2_Intron|ATPAF1_uc009vyk.2_Silent_p.F59F|ATPAF1_uc010omg.1_Silent_p.F122F|ATPAF1_uc001cqi.2_Intron	p.F210F	NM_022745	NP_073582	Q5TC12	ATPF1_HUMAN			7	735	-	Acute lymphoblastic leukemia(166;0.155)		210					B1AQW7|B7Z7D6|B7Z7I6|Q9H6E3	Silent	SNP	ENST00000371937.4	37	c.630T>C		.	.	.	.	.	.	.	.	.	.	A	10.41	1.342624	0.24339	.	.	ENSG00000123472	ENST00000534216	.	.	.	5.81	3.52	0.40303	.	.	.	.	.	T	0.59609	0.2206	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55988	-0.8053	4	.	.	.	-5.0008	9.7789	0.40637	0.8615:0.0:0.1385:0.0	.	.	.	.	S	65	.	.	L	-	2	0	ATPAF1	46883474	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.086000	0.41643	1.022000	0.39626	0.528000	0.53228	TTG		0.398	ATPAF1-201	KNOWN	basic	protein_coding	protein_coding			NM_022745		15	48	0	0	0	0.006122	0	15	48		
RAB3B	5865	broad.mit.edu	37	1	52442691	52442691	+	Silent	SNP	A	A	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:52442691A>C	ENST00000371655.3	-	2	311	c.99T>G	c.(97-99)gtT>gtG	p.V33V		NM_002867.3	NP_002858.2	P20337	RAB3B_HUMAN	RAB3B, member RAS oncogene family	33					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|peptidyl-cysteine methylation (GO:0018125)|positive regulation of dopamine uptake involved in synaptic transmission (GO:0051586)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of vesicle size (GO:0097494)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)|vesicle (GO:0031982)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9						AGGTCTTGCCAACACTGCTGT	0.483																																						uc001cth.2		NaN																	0				ovary(1)	1						c.(97-99)GTT>GTG		RAB3B, member RAS oncogene family							186.0	142.0	157.0					1																	52442691		2203	4300	6503	SO:0001819	synonymous_variant	5865				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr1:52442691A>C	BC005035	CCDS560.1	1p32-p31	2008-02-05			ENSG00000169213	ENSG00000169213		"""RAB, member RAS oncogene"""	9778	protein-coding gene	gene with protein product		179510					Standard	NM_002867		Approved		uc001cth.3	P20337	OTTHUMG00000008627	ENST00000371655.3:c.99T>G	1.37:g.52442691A>C							p.V33V	NM_002867	NP_002858	P20337	RAB3B_HUMAN			2	224	-			33			GTP.		Q5VUL2|Q9BSI1	Silent	SNP	ENST00000371655.3	37	c.99T>G	CCDS560.1																																																																																				0.483	RAB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023816.1		NM_002867		67	39	0	0	0	0.00361	0	67	39		
CC2D1B	200014	broad.mit.edu	37	1	52821951	52821951	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:52821951C>G	ENST00000371586.2	-	18	2117	c.1979G>C	c.(1978-1980)cGc>cCc	p.R660P	CC2D1B_ENST00000438831.1_Missense_Mutation_p.R35P|CC2D1B_ENST00000284376.3_Missense_Mutation_p.R654P|CC2D1B_ENST00000460261.1_5'UTR|RP11-155O18.6_ENST00000606527.1_RNA	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	660						nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						CTGTTTCTTGCGGTCCTGAGC	0.567																																						uc001ctq.1		NaN																	0				ovary(2)	2						c.(1978-1980)CGC>CCC		coiled-coil and C2 domain containing 1B							138.0	137.0	137.0					1																	52821951		2203	4300	6503	SO:0001583	missense	200014							g.chr1:52821951C>G	AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222			29386	protein-coding gene	gene with protein product						11347906	Standard	NM_032449		Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.1979G>C	1.37:g.52821951C>G	ENSP00000360642:p.Arg660Pro					CC2D1B_uc001ctr.2_Missense_Mutation_p.R200P|CC2D1B_uc001cts.2_Missense_Mutation_p.R345P	p.R660P	NM_032449	NP_115825	Q5T0F9	C2D1B_HUMAN			18	2117	-			660					Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	Missense_Mutation	SNP	ENST00000371586.2	37	c.1979G>C	CCDS30714.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.71|14.71	2.617240|2.617240	0.46736|0.46736	.|.	.|.	ENSG00000154222|ENSG00000154222	ENST00000438021;ENST00000450942|ENST00000371586;ENST00000284376;ENST00000371573;ENST00000438831	.|T;T;T	.|0.29142	.|1.58;1.58;1.58	5.09|5.09	5.09|5.09	0.68999|0.68999	.|.	.|0.110222	.|0.64402	.|D	.|0.000007	T|T	0.29684|0.29684	0.0741|0.0741	N|N	0.22421|0.22421	0.69|0.69	0.47441|0.47441	D|D	0.999428|0.999428	.|D;D;P	.|0.54964	.|0.969;0.964;0.94	.|P;P;B	.|0.48873	.|0.593;0.548;0.346	T|T	0.01617|0.01617	-1.1311|-1.1311	5|10	.|0.29301	.|T	.|0.29	-9.2194|-9.2194	17.4272|17.4272	0.87529|0.87529	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|440;654;660	.|Q5T0G1;Q5T0F9-2;Q5T0F9	.|.;.;C2D1B_HUMAN	P|P	441;574|660;654;568;35	.|ENSP00000360642:R660P;ENSP00000284376:R654P;ENSP00000406300:R35P	.|ENSP00000284376:R654P	A|R	-|-	1|2	0|0	CC2D1B|CC2D1B	52594539|52594539	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.182000|0.182000	0.23217|0.23217	6.672000|6.672000	0.74477|0.74477	2.656000|2.656000	0.90262|0.90262	0.561000|0.561000	0.74099|0.74099	GCA|CGC		0.567	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022189.1		NM_032449		39	126	0	0	0	0.00874	0	39	126		
PODN	127435	broad.mit.edu	37	1	53542872	53542872	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:53542872C>G	ENST00000312553.5	+	6	743	c.736C>G	c.(736-738)Ctg>Gtg	p.L246V	PODN_ENST00000371500.3_Missense_Mutation_p.L227V|RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000395871.2_Intron	NM_001199081.1|NM_153703.4	NP_001186010.1|NP_714914.2	Q7Z5L7	PODN_HUMAN	podocan	198					negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GTCTGTGTACCTGCACAACAA	0.627																																						uc001cuv.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(736-738)CTG>GTG		podocan							75.0	79.0	78.0					1																	53542872		2203	4300	6503	SO:0001583	missense	127435				negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding	g.chr1:53542872C>G	AY313607	CCDS573.1, CCDS55601.1, CCDS55602.1	1p32.3	2008-02-05			ENSG00000174348	ENSG00000174348		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	23174	protein-coding gene	gene with protein product	"""podocan proteoglycan"""	608661					Standard	NM_153703		Approved	PCAN, PODOCAN, MGC24995, SLRR5A	uc010onr.2	Q7Z5L7	OTTHUMG00000008934	ENST00000312553.5:c.736C>G	1.37:g.53542872C>G	ENSP00000308315:p.Leu246Val					PODN_uc001cuw.2_Missense_Mutation_p.L227V|PODN_uc010onr.1_Missense_Mutation_p.L227V|PODN_uc010ons.1_Intron	p.L246V	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN			6	743	+			198			LRR 5.		B4DKN5|B4E373|Q5VVZ2|Q5VVZ3|Q6PIR3|Q6UXL8|Q8N641	Missense_Mutation	SNP	ENST00000312553.5	37	c.736C>G	CCDS573.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.568292	0.86439	.	.	ENSG00000174348	ENST00000371500;ENST00000312553	T;T	0.33438	3.0;1.41	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.59824	0.2222	M	0.80982	2.52	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.81914	0.995;0.919	T	0.63756	-0.6565	10	0.62326	D	0.03	.	18.7385	0.91765	0.0:1.0:0.0:0.0	.	227;246	Q7Z5L7-2;Q7Z5L7-3	.;.	V	227;246	ENSP00000360555:L227V;ENSP00000308315:L246V	ENSP00000308315:L246V	L	+	1	2	PODN	53315460	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.575000	0.67430	2.655000	0.90218	0.655000	0.94253	CTG		0.627	PODN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000024735.1		NM_153703		66	204	0	0	0	0.00361	0	66	204		
EFCAB7	84455	broad.mit.edu	37	1	64021038	64021038	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:64021038T>C	ENST00000371088.4	+	9	1312	c.1066T>C	c.(1066-1068)Tgg>Cgg	p.W356R	EFCAB7_ENST00000461039.1_3'UTR	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	356							calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						GGTGTTTGGATGGACTGGTGA	0.343																																						uc001dbf.2		NaN																	0					0						c.(1066-1068)TGG>CGG		EF-hand calcium binding domain 7							167.0	167.0	167.0					1																	64021038		2203	4300	6503	SO:0001583	missense	84455						calcium ion binding	g.chr1:64021038T>C	BC015814	CCDS30737.1	1p31.3	2013-01-10			ENSG00000203965	ENSG00000203965		"""EF-hand domain containing"""	29379	protein-coding gene	gene with protein product						11347906	Standard	NM_032437		Approved	KIAA1799, RP4-534K7.1	uc001dbf.3	A8K855	OTTHUMG00000008983	ENST00000371088.4:c.1066T>C	1.37:g.64021038T>C	ENSP00000360129:p.Trp356Arg						p.W356R	NM_032437	NP_115813	A8K855	EFCB7_HUMAN			9	1360	+			356					Q658P0|Q96B95|Q96JM6	Missense_Mutation	SNP	ENST00000371088.4	37	c.1066T>C	CCDS30737.1	.	.	.	.	.	.	.	.	.	.	T	19.42	3.825106	0.71143	.	.	ENSG00000203965	ENST00000371088	T	0.40225	1.04	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.55465	0.1922	M	0.68952	2.095	0.80722	D	1	D	0.76494	0.999	D	0.68192	0.956	T	0.60332	-0.7284	10	0.72032	D	0.01	-5.1811	16.4338	0.83864	0.0:0.0:0.0:1.0	.	356	A8K855	EFCB7_HUMAN	R	356	ENSP00000360129:W356R	ENSP00000360129:W356R	W	+	1	0	EFCAB7	63793626	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	6.176000	0.71955	2.270000	0.75569	0.533000	0.62120	TGG		0.343	EFCAB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024910.1		NM_032437		34	22	0	0	0	0.00361	0	34	22		
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74835181	74835181	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:74835181G>A	ENST00000370899.3	+	18	1919	c.1882G>A	c.(1882-1884)Gct>Act	p.A628T	FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.A641T|TNNI3K_ENST00000326637.3_Missense_Mutation_p.A527T|TNNI3K_ENST00000370891.2_Missense_Mutation_p.A628T|RP11-439H8.4_ENST00000415549.2_RNA|FPGT-TNNI3K_ENST00000370895.1_Missense_Mutation_p.A628T	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough																		GTTTGTGGGTGCTTGCTTGAA	0.478																																						uc001dgf.1		NaN																	0				large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(1579-1581)GCT>ACT		TNNI3 interacting kinase isoform b							255.0	221.0	233.0					1																	74835181		2203	4300	6503	SO:0001583	missense	51086					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding	g.chr1:74835181G>A			1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.1882G>A	1.37:g.74835181G>A	ENSP00000359936:p.Ala628Thr					TNNI3K_uc001dgc.1_Missense_Mutation_p.A628T|TNNI3K_uc001dgd.2_Missense_Mutation_p.A628T|TNNI3K_uc001dge.1_Missense_Mutation_p.A628T	p.A527T	NM_015978	NP_057062	Q59H18	TNI3K_HUMAN			16	1630	+			527			Protein kinase.			Missense_Mutation	SNP	ENST00000370899.3	37	c.1579G>A		.	.	.	.	.	.	.	.	.	.	G	27.8	4.863112	0.91511	.	.	ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000370895;ENST00000557284;ENST00000370891;ENST00000326637;ENST00000534020	D;D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77;-1.77	5.27	5.27	0.74061	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.76011	0.3928	L	0.32530	0.975	0.80722	D	1	D;P;P;B	0.52996	0.957;0.946;0.946;0.376	P;B;B;B	0.47376	0.545;0.41;0.41;0.104	T	0.78573	-0.2152	10	0.49607	T	0.09	.	18.8831	0.92364	0.0:0.0:1.0:0.0	.	527;628;628;628	Q59H18;Q59H18-1;Q59H18-4;Q59H18-3	TNI3K_HUMAN;.;.;.	T	628;628;628;628;527;51	ENSP00000359936:A628T;ENSP00000359932:A628T;ENSP00000450895:A628T;ENSP00000359928:A628T;ENSP00000322251:A527T;ENSP00000434975:A51T	ENSP00000322251:A527T	A	+	1	0	RP11-653A5.2;AC093158.1	74607769	1.000000	0.71417	0.997000	0.53966	0.955000	0.61496	7.485000	0.81204	2.449000	0.82847	0.561000	0.74099	GCT		0.478	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	protein_coding	OTTHUMT00000026438.3				26	61	0	0	0	0.002096	0	26	61		
ZZZ3	26009	broad.mit.edu	37	1	78050334	78050334	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:78050334C>T	ENST00000370801.3	-	6	1987	c.1512G>A	c.(1510-1512)caG>caA	p.Q504Q	ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Silent_p.Q10Q	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	504					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						GTAATAGTCTCTGATAACTAC	0.373																																						uc001dhq.2		NaN																	0				ovary(4)|large_intestine(1)	5						c.(1510-1512)CAG>CAA		zinc finger, ZZ-type containing 3							73.0	73.0	73.0					1																	78050334		2203	4300	6503	SO:0001819	synonymous_variant	26009				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:78050334C>T	AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"""Zinc fingers, ZZ-type"""	24523	protein-coding gene	gene with protein product	"""ATAC component 1 homolog (Drosophila)"""					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652	ENST00000370801.3:c.1512G>A	1.37:g.78050334C>T						ZZZ3_uc001dhr.2_Silent_p.Q10Q|ZZZ3_uc009wbz.1_3'UTR|ZZZ3_uc001dhp.2_Silent_p.Q504Q	p.Q504Q	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN			6	1988	-			504					B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	Silent	SNP	ENST00000370801.3	37	c.1512G>A	CCDS677.1																																																																																				0.373	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026615.1		NM_015534		7	17	0	0	0	0.00308	0	7	17		
COL24A1	255631	broad.mit.edu	37	1	86590911	86590911	+	Missense_Mutation	SNP	G	G	A	rs549295917	byFrequency	TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:86590911G>A	ENST00000370571.2	-	3	1474	c.1108C>T	c.(1108-1110)Ctc>Ttc	p.L370F	COL24A1_ENST00000436319.1_Missense_Mutation_p.L370F	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	370					extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		ATGTTTAGGAGAGAGCTAAAT	0.378													G|||	2	0.000399361	0.0	0.0	5008	,	,		18047	0.0		0.0	False		,,,				2504	0.002					uc001dlj.2		NaN																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(1108-1110)CTC>TTC		collagen, type XXIV, alpha 1 precursor							160.0	140.0	146.0					1																	86590911		1916	4118	6034	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86590911G>A	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.1108C>T	1.37:g.86590911G>A	ENSP00000359603:p.Leu370Phe					COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Missense_Mutation_p.L370F	p.L370F	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	3	1150	-			370					C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.1108C>T	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	G	0.029	-1.350093	0.01266	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.18338	2.22;2.22	5.04	1.6	0.23607	.	0.265131	0.20103	N	0.099181	T	0.02304	0.0071	L	0.29908	0.895	0.09310	N	1	B;B	0.16802	0.019;0.002	B;B	0.18561	0.022;0.005	T	0.44267	-0.9339	10	0.10111	T	0.7	.	2.2765	0.04103	0.1939:0.1409:0.5012:0.1639	.	370;370	F8WDM8;Q17RW2	.;COOA1_HUMAN	F	370	ENSP00000359603:L370F;ENSP00000392531:L370F	ENSP00000359603:L370F	L	-	1	0	COL24A1	86363499	0.000000	0.05858	0.192000	0.23308	0.056000	0.15407	0.488000	0.22371	0.495000	0.27882	0.563000	0.77884	CTC		0.378	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4		NM_152890		21	19	0	0	0	0.009535	0	21	19		
SLC30A7	148867	broad.mit.edu	37	1	101362198	101362198	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:101362198G>A	ENST00000370112.4	+	2	340	c.153G>A	c.(151-153)gtG>gtA	p.V51V	EXTL2_ENST00000535414.1_5'Flank|EXTL2_ENST00000370113.3_5'Flank|SLC30A7_ENST00000357650.4_Silent_p.V51V|EXTL2_ENST00000480774.1_5'Flank|RP4-549L20.3_ENST00000609247.1_RNA|EXTL2_ENST00000370114.3_5'Flank	NM_001144884.1|NM_133496.4	NP_001138356.1|NP_598003.2	Q8NEW0	ZNT7_HUMAN	solute carrier family 30 (zinc transporter), member 7	51					cellular protein metabolic process (GO:0044267)|sequestering of zinc ion (GO:0032119)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	cation transmembrane transporter activity (GO:0008324)			endometrium(3)|large_intestine(2)|lung(10)	15		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		TCGCTTTTGTGGAACTACTCT	0.502																																					NSCLC(91;473 1491 3102 16827 21633)	uc001dtn.2		NaN																	0					0						c.(151-153)GTG>GTA		zinc transporter like 2							116.0	102.0	106.0					1																	101362198		2203	4300	6503	SO:0001819	synonymous_variant	148867				zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding	g.chr1:101362198G>A	AF233345	CCDS776.1	1p21.1	2013-05-22			ENSG00000162695	ENSG00000162695		"""Solute carriers"""	19306	protein-coding gene	gene with protein product		611149				12446736	Standard	NM_133496		Approved	ZnTL2, ZNT7	uc001dto.2	Q8NEW0	OTTHUMG00000011815	ENST00000370112.4:c.153G>A	1.37:g.101362198G>A						EXTL2_uc001dtk.1_5'Flank|EXTL2_uc001dtl.1_5'Flank|EXTL2_uc010ouk.1_5'Flank|EXTL2_uc001dtm.1_5'Flank|SLC30A7_uc001dto.2_Silent_p.V51V	p.V51V	NM_001144884	NP_001138356	Q8NEW0	ZNT7_HUMAN		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)	2	340	+		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)	51			Helical; (Potential).		B2R949|D3DT61|Q8TCH2	Silent	SNP	ENST00000370112.4	37	c.153G>A	CCDS776.1																																																																																				0.502	SLC30A7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032711.1		NM_133496		7	19	0	0	0	0.00308	0	7	19		
KIAA1324	57535	broad.mit.edu	37	1	109731742	109731742	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:109731742G>A	ENST00000369939.3	+	10	1457	c.1274G>A	c.(1273-1275)tGg>tAg	p.W425*	KIAA1324_ENST00000529753.1_Nonsense_Mutation_p.W338*|KIAA1324_ENST00000369938.1_3'UTR	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	425					cellular response to starvation (GO:0009267)|macroautophagy (GO:0016236)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|positive regulation of autophagic vacuole assembly (GO:2000786)|positive regulation of vacuole organization (GO:0044090)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		GAATACAAATGGTGGAACACG	0.527																																						uc001dwq.2		NaN																	0				ovary(2)|haematopoietic_and_lymphoid_tissue(1)|breast(1)|skin(1)	5						c.(1273-1275)TGG>TAG		hypothetical protein LOC57535 precursor							114.0	96.0	102.0					1																	109731742		2203	4300	6503	SO:0001587	stop_gained	57535				macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane		g.chr1:109731742G>A	AK057647	CCDS794.1, CCDS58015.1	1p13.3	2008-09-18			ENSG00000116299	ENSG00000116299			29618	protein-coding gene	gene with protein product	"""estrogen induced gene 121"""	611298				10718198, 16322283	Standard	NM_020775		Approved	maba1, EIG121	uc021orb.1	Q6UXG2	OTTHUMG00000011725	ENST00000369939.3:c.1274G>A	1.37:g.109731742G>A	ENSP00000358955:p.Trp425*					KIAA1324_uc009wex.1_Nonsense_Mutation_p.W375*|KIAA1324_uc009wey.2_Nonsense_Mutation_p.W338*|KIAA1324_uc010ovg.1_Nonsense_Mutation_p.W323*|KIAA1324_uc001dwr.2_Nonsense_Mutation_p.W75*	p.W425*	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)	11	1410	+		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)	425			Extracellular (Potential).		Q08AE6|Q5T5C9|Q5T5D0|Q5T5D1|Q9P2M2	Nonsense_Mutation	SNP	ENST00000369939.3	37	c.1274G>A	CCDS794.1	.	.	.	.	.	.	.	.	.	.	G	38	6.756771	0.97817	.	.	ENSG00000116299	ENST00000369939;ENST00000457623;ENST00000529753	.	.	.	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.4646	17.4771	0.87662	0.0:0.0:1.0:0.0	.	.	.	.	X	425;375;338	.	ENSP00000358955:W425X	W	+	2	0	KIAA1324	109533265	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.625000	0.98406	2.669000	0.90835	0.561000	0.74099	TGG		0.527	KIAA1324-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032389.2		NM_020775		30	30	0	0	0	0.003271	0	30	30		
PTPN22	26191	broad.mit.edu	37	1	114372323	114372323	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:114372323T>G	ENST00000359785.5	-	18	2276	c.2141A>C	c.(2140-2142)cAg>cCg	p.Q714P	RP5-1073O3.2_ENST00000448199.1_RNA|PTPN22_ENST00000528414.1_Missense_Mutation_p.Q659P|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000420377.2_Missense_Mutation_p.Q714P|PTPN22_ENST00000525799.1_Missense_Mutation_p.Q587P|PTPN22_ENST00000538253.1_Missense_Mutation_p.Q470P	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	714					negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphoanandamide dephosphorylation (GO:0035644)|protein dephosphorylation (GO:0006470)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of innate immune response (GO:0045088)|regulation of natural killer cell proliferation (GO:0032817)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|protein tyrosine phosphatase activity (GO:0004725)|SH3 domain binding (GO:0017124)			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGATTGGGCCTGCATACCTTA	0.338																																						uc001eds.2		NaN																	0				kidney(2)|lung(1)|skin(1)	4						c.(2140-2142)CAG>CCG		protein tyrosine phosphatase, non-receptor type							93.0	93.0	93.0					1																	114372323		2203	4300	6503	SO:0001583	missense	26191				negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding	g.chr1:114372323T>G	AF001846	CCDS863.1, CCDS864.1, CCDS864.2	1p13.2	2011-06-09	2005-02-02		ENSG00000134242	ENSG00000134242		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9652	protein-coding gene	gene with protein product		600716	"""protein tyrosine phosphatase, non-receptor type 8"""	PTPN8		10068674, 1373816	Standard	NM_015967		Approved	Lyp, Lyp1, Lyp2	uc001eds.3	Q9Y2R2	OTTHUMG00000011936	ENST00000359785.5:c.2141A>C	1.37:g.114372323T>G	ENSP00000352833:p.Gln714Pro					PTPN22_uc009wgq.2_Missense_Mutation_p.Q659P|PTPN22_uc010owo.1_Missense_Mutation_p.Q470P|PTPN22_uc001edt.2_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.Q714P|PTPN22_uc009wgs.2_Missense_Mutation_p.Q587P	p.Q714P	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	18	2271	-	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)	714					A0N0K6|B1ALC8|D4NZ71|E9PLD8|E9PPI1|O95063|O95064|Q6IPX8|Q8WVM1	Missense_Mutation	SNP	ENST00000359785.5	37	c.2141A>C	CCDS863.1	.	.	.	.	.	.	.	.	.	.	T	17.02	3.280816	0.59758	.	.	ENSG00000134242	ENST00000359785;ENST00000528414;ENST00000538253;ENST00000420377;ENST00000525799	T;T;T;T;T	0.34859	3.64;3.25;1.34;3.24;2.61	5.48	4.33	0.51752	.	0.229817	0.31624	N	0.007329	T	0.45316	0.1336	M	0.78801	2.425	0.42428	D	0.99266	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.971;0.998	D;D;D;P;D	0.85130	0.997;0.963;0.972;0.691;0.916	T	0.46345	-0.9198	10	0.39692	T	0.17	.	8.6399	0.33970	0.1701:0.0:0.0:0.8299	.	470;587;714;659;714	F5H2S8;E9PPI1;E9PMT0;E9PLD8;Q9Y2R2	.;.;.;.;PTN22_HUMAN	P	714;659;470;714;587	ENSP00000352833:Q714P;ENSP00000435176:Q659P;ENSP00000439372:Q470P;ENSP00000388229:Q714P;ENSP00000432674:Q587P	ENSP00000352833:Q714P	Q	-	2	0	PTPN22	114173846	1.000000	0.71417	0.938000	0.37757	0.936000	0.57629	2.668000	0.46816	0.884000	0.36064	0.482000	0.46254	CAG		0.338	PTPN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033015.1		NM_015967		3	15	0	0	0	0.004672	0	3	15		
AP4B1	10717	broad.mit.edu	37	1	114442966	114442966	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:114442966T>C	ENST00000369569.1	-	5	954	c.674A>G	c.(673-675)tAc>tGc	p.Y225C	AP4B1_ENST00000369567.1_Missense_Mutation_p.Y57C|AP4B1_ENST00000256658.4_Missense_Mutation_p.Y225C|AP4B1_ENST00000369566.3_Missense_Mutation_p.Y132C|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000462591.1_5'Flank	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	225					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCGGGGTTGGTAGCGTAGCAG	0.423																																						uc001eeb.2		NaN																	0				ovary(3)|central_nervous_system(1)	4						c.(673-675)TAC>TGC		adaptor-related protein complex 4, beta 1							86.0	79.0	81.0					1																	114442966		2203	4300	6503	SO:0001583	missense	10717				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	g.chr1:114442966T>C	AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"""beta 4 subunit of AP-4"""	607245	"""spastic paraplegia 47"""	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.674A>G	1.37:g.114442966T>C	ENSP00000358582:p.Tyr225Cys					uc001edv.1_RNA|AP4B1_uc001eec.2_Missense_Mutation_p.Y57C|AP4B1_uc001eed.2_Missense_Mutation_p.Y225C|AP4B1_uc010owp.1_Missense_Mutation_p.Y126C|AP4B1_uc001eea.1_Missense_Mutation_p.Y19C|AP4B1_uc010owq.1_Missense_Mutation_p.Y132C	p.Y225C	NM_006594	NP_006585	Q9Y6B7	AP4B1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	817	-	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	225					B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	ENST00000369569.1	37	c.674A>G	CCDS865.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.300122	0.81136	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658;ENST00000369566;ENST00000369564;ENST00000432415;ENST00000369571	T;T;T;T;T;T;T	0.13420	2.59;2.59;2.59;2.59;2.59;2.59;2.59	5.2	5.2	0.72013	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.116065	0.64402	D	0.000011	T	0.38401	0.1039	M	0.91818	3.245	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;0.996	T	0.52041	-0.8628	10	0.72032	D	0.01	.	15.3626	0.74492	0.0:0.0:0.0:1.0	.	132;57;225;126	B7Z4X3;B1ALD0;Q9Y6B7;B4DTG3	.;.;AP4B1_HUMAN;.	C	57;225;225;132;150;57;225	ENSP00000358580:Y57C;ENSP00000358582:Y225C;ENSP00000256658:Y225C;ENSP00000358579:Y132C;ENSP00000358577:Y150C;ENSP00000393622:Y57C;ENSP00000358584:Y225C	ENSP00000256658:Y225C	Y	-	2	0	AP4B1	114244489	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.763000	0.85283	2.086000	0.62901	0.459000	0.35465	TAC		0.423	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1		NM_006594		21	29	0	0	0	0.00632	0	21	29		
HIPK1	204851	broad.mit.edu	37	1	114512680	114512680	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:114512680G>A	ENST00000369558.1	+	14	3106	c.2874G>A	c.(2872-2874)ctG>ctA	p.L958L	HIPK1_ENST00000369554.2_Silent_p.L913L|HIPK1_ENST00000340480.4_Silent_p.L584L|HIPK1_ENST00000369553.1_Silent_p.L564L|HIPK1_ENST00000406344.1_Silent_p.L564L|HIPK1_ENST00000369561.4_Silent_p.L924L|HIPK1_ENST00000426820.2_Silent_p.L958L|HIPK1_ENST00000369555.2_Silent_p.L913L|HIPK1_ENST00000369559.4_Silent_p.L958L			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	958	Interaction with TP53.|Required for localization to nuclear speckles. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|neuron differentiation (GO:0030182)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)|retina layer formation (GO:0010842)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGATACCCTGAGTGCTCTCC	0.507																																						uc001eem.2		NaN																	0				ovary(4)	4						c.(2872-2874)CTG>CTA		homeodomain-interacting protein kinase 1 isoform							168.0	170.0	169.0					1																	114512680		2203	4300	6503	SO:0001819	synonymous_variant	204851				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr1:114512680G>A	AB089957	CCDS867.1, CCDS868.1, CCDS869.1, CCDS41370.1	1p13.1	2008-02-05			ENSG00000163349	ENSG00000163349			19006	protein-coding gene	gene with protein product		608003					Standard	NM_198268		Approved	KIAA0630, Myak, MGC26642, Nbak2, MGC33446, MGC33548	uc001eem.3	Q86Z02	OTTHUMG00000011983	ENST00000369558.1:c.2874G>A	1.37:g.114512680G>A						HIPK1_uc001eel.2_Silent_p.L958L|HIPK1_uc001een.2_Silent_p.L958L|HIPK1_uc001eeo.2_Silent_p.L584L|HIPK1_uc001eep.2_Silent_p.L564L|HIPK1_uc001eeq.2_Silent_p.L250L	p.L958L	NM_198268	NP_938009	Q86Z02	HIPK1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	14	3035	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	958			Required for localization to nuclear speckles (By similarity).|Interaction with TP53.		A6NJ34|O75125|Q5SQL2|Q5SQL4|Q5SQL5|Q8IYD7|Q8NDN5|Q8NEB6|Q8TBZ1	Silent	SNP	ENST00000369558.1	37	c.2874G>A	CCDS867.1	.	.	.	.	.	.	.	.	.	.	G	8.491	0.861951	0.17178	.	.	ENSG00000163349	ENST00000361587	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	T	0.55178	0.1904	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54330	-0.8310	4	.	.	.	.	11.8974	0.52663	0.0:0.2249:0.6537:0.1214	.	.	.	.	K	239	.	.	E	+	1	0	HIPK1	114314203	0.784000	0.28713	0.996000	0.52242	0.848000	0.48234	0.859000	0.27858	2.873000	0.98535	0.561000	0.74099	GAG		0.507	HIPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000033127.1		NM_198268		49	103	0	0	0	0.00361	0	49	103		
ZNF697	90874	broad.mit.edu	37	1	120166097	120166097	+	Missense_Mutation	SNP	A	A	T	rs377670902		TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:120166097A>T	ENST00000421812.2	-	3	988	c.869T>A	c.(868-870)cTg>cAg	p.L290Q		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	290					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		GTCGGCGCACAGGTTGGGCCG	0.706																																						uc001ehy.1		NaN																	0				ovary(1)	1						c.(868-870)CTG>CAG		zinc finger protein 697							8.0	9.0	9.0					1																	120166097		2166	4267	6433	SO:0001583	missense	90874				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:120166097A>T	AK027019, BC033126	CCDS44202.1	1p12	2013-01-08			ENSG00000143067	ENSG00000143067		"""Zinc fingers, C2H2-type"""	32034	protein-coding gene	gene with protein product							Standard	NM_001080470		Approved	MGC45731	uc001ehy.1	Q5TEC3	OTTHUMG00000012962	ENST00000421812.2:c.869T>A	1.37:g.120166097A>T	ENSP00000396857:p.Leu290Gln						p.L290Q	NM_001080470	NP_001073939	Q5TEC3	ZN697_HUMAN		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)	3	983	-	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)	290			C2H2-type 3.		Q96IT2	Missense_Mutation	SNP	ENST00000421812.2	37	c.869T>A	CCDS44202.1	.	.	.	.	.	.	.	.	.	.	A	0.024	-1.388881	0.01185	.	.	ENSG00000143067	ENST00000421812	T	0.01613	4.73	4.14	4.14	0.48551	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.00384	0.0012	N	0.04260	-0.245	0.26595	N	0.973138	B	0.18461	0.028	B	0.15870	0.014	T	0.49283	-0.8956	9	0.34782	T	0.22	.	6.5047	0.22188	0.8876:0.0:0.1124:0.0	.	290	Q5TEC3	ZN697_HUMAN	Q	290	ENSP00000396857:L290Q	ENSP00000396857:L290Q	L	-	2	0	ZNF697	119967620	0.000000	0.05858	1.000000	0.80357	0.009000	0.06853	-1.307000	0.02733	1.649000	0.50652	0.383000	0.25322	CTG		0.706	ZNF697-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036349.3		XM_371286		21	17	0	0	0	0.004656	0	21	17		
NOTCH2	4853	broad.mit.edu	37	1	120529583	120529583	+	Splice_Site	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:120529583C>T	ENST00000256646.2	-	5	1093	c.874G>A	c.(874-876)Gga>Aga	p.G292R		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	292	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGTACATACCTGTCCATTGT	0.458			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													uc001eik.2		NaN		Dom	yes		1	1p13-p11	4853	N|F|Mis	Notch homolog 2			L			marginal zone lymphoma|DLBCL		0				lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1)	27						c.(874-876)GGA>AGA		notch 2 preproprotein							109.0	101.0	104.0					1																	120529583		2203	4300	6503	SO:0001630	splice_region_variant	4853	Alagille_Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120529583C>T	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.874+1G>A	1.37:g.120529583C>T						NOTCH2_uc001eil.2_Missense_Mutation_p.G292R|NOTCH2_uc001eim.3_Missense_Mutation_p.G209R	p.G292R	NM_024408	NP_077719	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	5	1130	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	292			EGF-like 7; calcium-binding (Potential).|Extracellular (Potential).		Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	c.874G>A	CCDS908.1	.	.	.	.	.	.	.	.	.	.	C	31	5.098297	0.94197	.	.	ENSG00000134250	ENST00000256646;ENST00000539617	D	0.99121	-5.45	5.96	5.96	0.96718	EGF (1);EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.37304	U	0.002144	D	0.99704	0.9887	H	0.99058	4.415	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.989;0.995;1.0	D	0.97489	1.0052	9	.	.	.	.	18.9646	0.92691	0.0:1.0:0.0:0.0	.	253;292;292	D2WEZ3;Q6IQ50;Q04721	.;.;NOTC2_HUMAN	R	292;253	ENSP00000256646:G292R	.	G	-	1	0	NOTCH2	120331106	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	7.663000	0.83820	2.826000	0.97356	0.655000	0.94253	GGA		0.458	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1		NM_024408	Missense_Mutation	37	44	0	0	0	0.00361	0	37	44		
RPRD2	23248	broad.mit.edu	37	1	150444196	150444196	+	Silent	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:150444196G>T	ENST00000369068.4	+	11	2776	c.2772G>T	c.(2770-2772)ggG>ggT	p.G924G	RPRD2_ENST00000539519.1_Silent_p.G898G|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000401000.4_Silent_p.G898G	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	924	Ser-rich.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)		p.G924G(2)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						ATGAACCTGGGTCTGACCGGT	0.507																																						uc009wlr.2		NaN																	2	Substitution - coding silent(2)		central_nervous_system(2)	ovary(1)	1						c.(2770-2772)GGG>GGT		Regulation of nuclear pre-mRNA domain containing							223.0	224.0	223.0					1																	150444196		2038	4186	6224	SO:0001819	synonymous_variant	23248						protein binding	g.chr1:150444196G>T	BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.2772G>T	1.37:g.150444196G>T						RPRD2_uc010pcc.1_Silent_p.G898G|RPRD2_uc001eup.3_Silent_p.G898G	p.G924G	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN			11	2973	+			924			Ser-rich.		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Silent	SNP	ENST00000369068.4	37	c.2772G>T	CCDS44216.1																																																																																				0.507	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1		NM_015203		127	119	1	0	1.28101e-76	0.00361	1.49742e-76	127	119		
FLG2	388698	broad.mit.edu	37	1	152328005	152328005	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:152328005C>T	ENST00000388718.5	-	3	2329	c.2257G>A	c.(2257-2259)Gga>Aga	p.G753R	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	753	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGGATTGTCCTGAGCCAGAC	0.512																																						uc001ezw.3		NaN																	0				ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(2257-2259)GGA>AGA		filaggrin family member 2							295.0	273.0	280.0					1																	152328005		2203	4298	6501	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152328005C>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2257G>A	1.37:g.152328005C>T	ENSP00000373370:p.Gly753Arg					uc001ezv.2_Intron	p.G753R	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2330	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		753			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.2257G>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	5.565	0.289077	0.10513	.	.	ENSG00000143520	ENST00000388718	T	0.23552	1.9	5.17	2.23	0.28157	.	.	.	.	.	T	0.20981	0.0505	L	0.52206	1.635	0.09310	N	0.999998	D	0.76494	0.999	D	0.67725	0.953	T	0.08743	-1.0707	9	0.26408	T	0.33	-3.8769	7.7553	0.28921	0.0:0.7283:0.0:0.2717	.	753	Q5D862	FILA2_HUMAN	R	753	ENSP00000373370:G753R	ENSP00000373370:G753R	G	-	1	0	FLG2	150594629	0.005000	0.15991	0.001000	0.08648	0.036000	0.12997	-0.129000	0.10515	0.191000	0.20236	0.609000	0.83330	GGA		0.512	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5		NM_001014342		148	236	0	0	0	0.00361	0	148	236		
GON4L	54856	broad.mit.edu	37	1	155796703	155796703	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:155796703G>C	ENST00000368331.1	-	3	670	c.622C>G	c.(622-624)Caa>Gaa	p.Q208E	GON4L_ENST00000271883.5_Missense_Mutation_p.Q208E|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Missense_Mutation_p.Q208E|GON4L_ENST00000361040.5_Missense_Mutation_p.Q208E	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	208					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GGCTTTTCTTGAGGAGAGGCA	0.468																																						uc001flz.2		NaN																	0				ovary(3)	3						c.(622-624)CAA>GAA		gon-4-like isoform a							147.0	141.0	143.0					1																	155796703		2203	4300	6503	SO:0001583	missense	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155796703G>C	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.622C>G	1.37:g.155796703G>C	ENSP00000357315:p.Gln208Glu					GON4L_uc001fly.1_Missense_Mutation_p.Q208E|GON4L_uc009wrh.1_Missense_Mutation_p.Q208E|GON4L_uc001fma.1_Missense_Mutation_p.Q208E|GON4L_uc001fmc.2_Missense_Mutation_p.Q208E|GON4L_uc001fmd.3_Missense_Mutation_p.Q208E|GON4L_uc009wri.2_5'UTR|GON4L_uc001fme.2_Missense_Mutation_p.Q36E	p.Q208E	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN			3	719	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		208					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	ENST00000368331.1	37	c.622C>G		.	.	.	.	.	.	.	.	.	.	G	11.57	1.676660	0.29783	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040	T;T;T;T	0.12774	2.85;2.85;2.85;2.65	4.36	4.36	0.52297	.	0.203079	0.25338	N	0.031394	T	0.05181	0.0138	L	0.32530	0.975	0.24118	N	0.995811	B;P;B;B	0.35872	0.029;0.525;0.043;0.073	B;B;B;B	0.35353	0.037;0.201;0.034;0.075	T	0.16012	-1.0417	10	0.56958	D	0.05	.	12.5527	0.56236	0.0:0.0:1.0:0.0	.	208;208;208;208	A4PB68;Q3T8J9-2;Q3T8J9;Q3T8J9-3	.;.;GON4L_HUMAN;.	E	208	ENSP00000396117:Q208E;ENSP00000357315:Q208E;ENSP00000271883:Q208E;ENSP00000354322:Q208E	ENSP00000271883:Q208E	Q	-	1	0	GON4L	154063327	0.999000	0.42202	0.975000	0.42487	0.471000	0.32888	2.688000	0.46984	2.426000	0.82243	0.491000	0.48974	CAA		0.468	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_032292		14	49	0	0	0	0.006122	0	14	49		
OR10Z1	128368	broad.mit.edu	37	1	158576875	158576875	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:158576875T>C	ENST00000361284.1	+	1	647	c.647T>C	c.(646-648)aTc>aCc	p.I216T		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	216						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TTCATCACCATCTCCTACGCC	0.532																																						uc010pio.1		NaN																	0				pancreas(1)|skin(1)	2						c.(646-648)ATC>ACC		olfactory receptor, family 10, subfamily Z,							154.0	140.0	145.0					1																	158576875		2203	4300	6503	SO:0001583	missense	128368				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158576875T>C	AB065635	CCDS30901.1	1q23.1	2012-08-23			ENSG00000198967	ENSG00000198967		"""GPCR / Class A : Olfactory receptors"""	14996	protein-coding gene	gene with protein product							Standard	NM_001004478		Approved		uc010pio.2	Q8NGY1	OTTHUMG00000019637	ENST00000361284.1:c.647T>C	1.37:g.158576875T>C	ENSP00000354707:p.Ile216Thr						p.I216T	NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN			1	647	+	all_hematologic(112;0.0378)		216			Helical; Name=5; (Potential).		Q5VYL0|Q6IFR7	Missense_Mutation	SNP	ENST00000361284.1	37	c.647T>C	CCDS30901.1	.	.	.	.	.	.	.	.	.	.	T	10.60	1.396503	0.25205	.	.	ENSG00000198967	ENST00000361284	T	0.39592	1.07	5.26	5.26	0.73747	GPCR, rhodopsin-like superfamily (1);	1.028080	0.07785	N	0.953994	T	0.23410	0.0566	L	0.49571	1.57	0.29279	N	0.870183	B	0.22541	0.071	B	0.25759	0.063	T	0.22871	-1.0204	10	0.56958	D	0.05	.	8.8551	0.35223	0.0:0.0842:0.0:0.9158	.	216	Q8NGY1	O10Z1_HUMAN	T	216	ENSP00000354707:I216T	ENSP00000354707:I216T	I	+	2	0	OR10Z1	156843499	0.000000	0.05858	0.913000	0.36048	0.264000	0.26372	0.426000	0.21363	2.201000	0.70794	0.533000	0.62120	ATC		0.532	OR10Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051853.1		NM_001004478		30	34	0	0	0	0.009535	0	30	34		
ADCY10	55811	broad.mit.edu	37	1	167814903	167814903	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:167814903C>T	ENST00000367851.4	-	21	3089	c.2905G>A	c.(2905-2907)Ggc>Agc	p.G969S	ADCY10_ENST00000367848.1_Missense_Mutation_p.G877S|ADCY10_ENST00000545172.1_Missense_Mutation_p.G816S	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	969					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AAGTCCCTGCCTCGGCAGTGG	0.463																																						uc001ger.2		NaN																	0				central_nervous_system(2)|ovary(1)	3						c.(2905-2907)GGC>AGC		adenylate cyclase 10							102.0	99.0	100.0					1																	167814903		2203	4300	6503	SO:0001583	missense	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167814903C>T	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.2905G>A	1.37:g.167814903C>T	ENSP00000356825:p.Gly969Ser					ADCY10_uc009wvk.2_Missense_Mutation_p.G877S|ADCY10_uc010plj.1_Missense_Mutation_p.G816S|ADCY10_uc009wvl.2_Missense_Mutation_p.G968S	p.G969S	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN			21	3203	-			969					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	c.2905G>A	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	C	0.946	-0.707938	0.03230	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;T;T	0.37584	1.19;1.21;1.2	5.93	2.43	0.29744	.	0.613019	0.17189	N	0.183570	T	0.03608	0.0103	N	0.01771	-0.73	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.001;0.002;0.0	T	0.46400	-0.9194	10	0.16420	T	0.52	-6.3143	7.2015	0.25883	0.0:0.2516:0.0:0.7484	.	816;877;969	F5GWS5;Q96PN6-2;Q96PN6	.;.;ADCYA_HUMAN	S	816;969;877	ENSP00000441992:G816S;ENSP00000356825:G969S;ENSP00000356822:G877S	ENSP00000356822:G877S	G	-	1	0	ADCY10	166081527	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.239000	0.18023	0.182000	0.20032	-0.238000	0.12139	GGC		0.463	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1		NM_018417		15	36	0	0	0	0.007413	0	15	36		
RFWD2	64326	broad.mit.edu	37	1	176133011	176133011	+	Silent	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:176133011A>G	ENST00000367669.3	-	4	1096	c.582T>C	c.(580-582)ctT>ctC	p.L194L	RFWD2_ENST00000308769.8_Silent_p.L194L	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	194					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GCTTCTGTTTAAGAATGAGTT	0.289																																					Ovarian(134;1413 1765 5706 35534 51541)	uc001gku.1		NaN																	0					0						c.(580-582)CTT>CTC		ring finger and WD repeat domain 2 isoform a							43.0	42.0	43.0					1																	176133011		2203	4296	6499	SO:0001819	synonymous_variant	64326				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:176133011A>G	AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	17440	protein-coding gene	gene with protein product		608067	"""ring finger and WD repeat domain 2"""			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.582T>C	1.37:g.176133011A>G						RFWD2_uc001gkv.1_Silent_p.L194L|RFWD2_uc001gkw.1_Intron|RFWD2_uc009wwv.2_5'Flank|RFWD2_uc001gkt.1_Silent_p.L53L	p.L194L	NM_022457	NP_071902	Q8NHY2	RFWD2_HUMAN			4	838	-			194					E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Silent	SNP	ENST00000367669.3	37	c.582T>C	CCDS30944.1																																																																																				0.289	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084672.2		NM_022457		2	7	0	0	0	0.004672	0	2	7		
PRG4	10216	broad.mit.edu	37	1	186280667	186280667	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:186280667G>A	ENST00000445192.2	+	10	3777	c.3732G>A	c.(3730-3732)gtG>gtA	p.V1244V	PRG4_ENST00000367486.3_Silent_p.V1201V|PRG4_ENST00000367484.3_Silent_p.V773V|RNU6-1240P_ENST00000365155.1_RNA|PRG4_ENST00000367485.4_Silent_p.V1151V|PRG4_ENST00000367483.4_Silent_p.V1203V	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	1244					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						GACAAATAGTGGCAGCGCTTT	0.363																																						uc001gru.3		NaN																	0				skin(1)	1						c.(3730-3732)GTG>GTA		proteoglycan 4 isoform A							77.0	85.0	82.0					1																	186280667		2203	4300	6503	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186280667G>A	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.3732G>A	1.37:g.186280667G>A						PRG4_uc001grt.3_Silent_p.V1203V|PRG4_uc009wyl.2_Silent_p.V1151V|PRG4_uc009wym.2_Silent_p.V1110V|PRG4_uc010poo.1_RNA	p.V1244V	NM_005807	NP_005798	Q92954	PRG4_HUMAN			10	3783	+			1244					Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.3732G>A	CCDS1369.1																																																																																				0.363	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1		NM_005807		7	16	0	0	0	0.00308	0	7	16		
CRB1	23418	broad.mit.edu	37	1	197390711	197390711	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:197390711G>C	ENST00000367400.3	+	6	1888	c.1753G>C	c.(1753-1755)Gac>Cac	p.D585H	CRB1_ENST00000367399.2_Missense_Mutation_p.D473H|CRB1_ENST00000538660.1_Missense_Mutation_p.D585H|CRB1_ENST00000535699.1_Missense_Mutation_p.D516H|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000543483.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.D66H	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	585	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CTTAATCGACGACTCCTGTAA	0.453																																						uc001gtz.2		NaN																	0				ovary(5)|skin(3)|large_intestine(1)	9						c.(1753-1755)GAC>CAC		crumbs homolog 1 precursor							117.0	113.0	114.0					1																	197390711		2203	4300	6503	SO:0001583	missense	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197390711G>C		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.1753G>C	1.37:g.197390711G>C	ENSP00000356370:p.Asp585His					CRB1_uc010poz.1_Missense_Mutation_p.D516H|CRB1_uc010ppa.1_Intron|CRB1_uc009wza.2_Missense_Mutation_p.D473H|CRB1_uc010ppb.1_Missense_Mutation_p.D585H|CRB1_uc010ppc.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.D66H|CRB1_uc001gub.1_Missense_Mutation_p.D234H	p.D585H	NM_201253	NP_957705	P82279	CRUM1_HUMAN			6	1888	+			585			Extracellular (Potential).|Laminin G-like 1.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	ENST00000367400.3	37	c.1753G>C	CCDS1390.1	.	.	.	.	.	.	.	.	.	.	G	10.57	1.387809	0.25031	.	.	ENSG00000134376	ENST00000535699;ENST00000538660;ENST00000367400;ENST00000367399;ENST00000544212;ENST00000367401	D;D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48;-2.48	5.69	-11.4	0.00090	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	.	.	.	.	D	0.87386	0.6164	L	0.59436	1.845	0.09310	N	1	P;P;P;B;P	0.50272	0.541;0.659;0.659;0.03;0.933	P;P;B;B;P	0.53224	0.525;0.52;0.393;0.015;0.721	D	0.87108	0.2183	9	0.59425	D	0.04	.	9.2407	0.37495	0.641:0.1339:0.1581:0.067	.	585;516;473;234;585	B7Z5T2;F5H0L2;P82279-3;P82279-4;P82279	.;.;.;.;CRUM1_HUMAN	H	516;585;585;473;66;234	ENSP00000438786:D516H;ENSP00000438091:D585H;ENSP00000356370:D585H;ENSP00000356369:D473H;ENSP00000444556:D66H	ENSP00000356369:D473H	D	+	1	0	CRB1	195657334	0.001000	0.12720	0.000000	0.03702	0.022000	0.10575	0.119000	0.15626	-3.469000	0.00157	-0.252000	0.11476	GAC		0.453	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2		NM_201253		20	24	0	0	0	0.008871	0	20	24		
SYT2	127833	broad.mit.edu	37	1	202569525	202569525	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:202569525C>T	ENST00000367267.1	-	7	1071	c.879G>A	c.(877-879)gaG>gaA	p.E293E	SYT2_ENST00000367268.4_Silent_p.E293E	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	293	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000250}.				neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	GGTTCTTAGCCTCCAGGATGC	0.617											OREG0014101	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001gye.2		NaN																	0				ovary(2)|skin(1)	3						c.(877-879)GAG>GAA		synaptotagmin II	Botulinum Toxin Type B(DB00042)						91.0	90.0	90.0					1																	202569525		2203	4300	6503	SO:0001819	synonymous_variant	127833				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity	g.chr1:202569525C>T	AK090672	CCDS1427.1	1q32.1	2013-01-21			ENSG00000143858	ENSG00000143858		"""Synaptotagmins"""	11510	protein-coding gene	gene with protein product		600104				7749232	Standard	NM_177402		Approved		uc010pqb.2	Q8N9I0	OTTHUMG00000041388	ENST00000367267.1:c.879G>A	1.37:g.202569525C>T			OREG0014101	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2130	SYT2_uc010pqb.1_Silent_p.E293E|SYT2_uc009xaf.2_Silent_p.E123E	p.E293E	NM_001136504	NP_001129976	Q8N9I0	SYT2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.169)		7	1072	-			293			Phospholipid binding (By similarity).|C2 2.|Cytoplasmic (Potential).		Q496K5|Q8NBE5	Silent	SNP	ENST00000367267.1	37	c.879G>A	CCDS1427.1																																																																																				0.617	SYT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099157.1		NM_177402		56	55	0	0	0	0.00361	0	56	55		
CYB5R1	51706	broad.mit.edu	37	1	202935955	202935955	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:202935955C>T	ENST00000367249.4	-	2	161	c.87G>A	c.(85-87)ttG>ttA	p.L29L	CYB5R1_ENST00000497655.1_5'Flank	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1	29					sterol biosynthetic process (GO:0016126)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)		Flavin adenine dinucleotide(DB03147)	ACCTCCGAACCAAGTAGGAGC	0.642																																						uc001gyt.2		NaN																	0				ovary(1)	1						c.(85-87)TTG>TTA		cytochrome b5 reductase 1							33.0	38.0	36.0					1																	202935955		2203	4300	6503	SO:0001819	synonymous_variant	51706				sterol biosynthetic process	integral to membrane	cytochrome-b5 reductase activity	g.chr1:202935955C>T	AF169481	CCDS1431.1	1q32.1	2011-04-08		2005-07-13	ENSG00000159348	ENSG00000159348	1.6.2.2		13397	protein-coding gene	gene with protein product		608341	"""NAD(P)H:quinone oxidoreductase type 3, polypeptide A2"""	NQO3A2		12975309, 10611283	Standard	NM_016243		Approved	humb5R2	uc001gyt.2	Q9UHQ9	OTTHUMG00000041387	ENST00000367249.4:c.87G>A	1.37:g.202935955C>T						CYB5R1_uc010pqe.1_RNA	p.L29L	NM_016243	NP_057327	Q9UHQ9	NB5R1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.141)		2	158	-			29					A0PK21|B2R8E0|O95329|Q53F73|Q8NCL5|Q9UHJ1	Silent	SNP	ENST00000367249.4	37	c.87G>A	CCDS1431.1																																																																																				0.642	CYB5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099155.1		NM_016243		9	37	0	0	0	0.004482	0	9	37		
REN	5972	broad.mit.edu	37	1	204124152	204124152	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:204124152C>T	ENST00000272190.8	-	10	1241	c.1213G>A	c.(1213-1215)Gcc>Acc	p.A405T	ETNK2_ENST00000367199.2_5'Flank|REN_ENST00000367195.2_Missense_Mutation_p.A402T	NM_000537.3	NP_000528.1	P00797	RENI_HUMAN	renin	405					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cell maturation (GO:0048469)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|drinking behavior (GO:0042756)|hormone-mediated signaling pathway (GO:0009755)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mesonephros development (GO:0001823)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of MAPK cascade (GO:0043408)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cAMP (GO:0051591)|response to cGMP (GO:0070305)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|peptidase activity (GO:0008233)|receptor binding (GO:0005102)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	CCTCAGCGGGCCAAGGCGAAG	0.647																																						uc001haq.2		NaN																	0				skin(3)|central_nervous_system(1)	4						c.(1213-1215)GCC>ACC		renin preproprotein	Aliskiren(DB01258)|Remikiren(DB00212)						52.0	51.0	51.0					1																	204124152		2203	4300	6503	SO:0001583	missense	5972				angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity	g.chr1:204124152C>T	BC047752	CCDS30981.1	1q32	2008-02-05			ENSG00000143839	ENSG00000143839	3.4.23.15		9958	protein-coding gene	gene with protein product		179820					Standard	NM_000537		Approved		uc001haq.2	P00797	OTTHUMG00000036059	ENST00000272190.8:c.1213G>A	1.37:g.204124152C>T	ENSP00000272190:p.Ala405Thr					ETNK2_uc001hao.3_5'Flank|ETNK2_uc001han.3_5'Flank|ETNK2_uc010pqs.1_5'Flank|ETNK2_uc010pqt.1_5'Flank	p.A405T	NM_000537	NP_000528	P00797	RENI_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		10	1257	-	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		405					Q6FI38|Q6T5C2	Missense_Mutation	SNP	ENST00000272190.8	37	c.1213G>A	CCDS30981.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.643268	0.87859	.	.	ENSG00000143839	ENST00000367195;ENST00000545733;ENST00000272190	T;T	0.61158	0.13;0.13	5.05	5.05	0.67936	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.053343	0.85682	D	0.000000	T	0.76256	0.3962	M	0.81179	2.53	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78831	-0.2049	10	0.59425	D	0.04	.	14.1422	0.65327	0.1508:0.8492:0.0:0.0	.	405	P00797	RENI_HUMAN	T	402;324;405	ENSP00000356163:A402T;ENSP00000272190:A405T	ENSP00000272190:A405T	A	-	1	0	REN	202390775	0.999000	0.42202	1.000000	0.80357	0.816000	0.46133	3.495000	0.53280	2.502000	0.84385	0.591000	0.81541	GCC		0.647	REN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087891.1		NM_000537		18	66	0	0	0	0.00333	0	18	66		
LRRN2	10446	broad.mit.edu	37	1	204587882	204587882	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:204587882G>A	ENST00000367175.1	-	1	3451	c.1239C>T	c.(1237-1239)ttC>ttT	p.F413F	RP11-430C7.4_ENST00000453895.1_RNA|LRRN2_ENST00000496057.1_5'Flank|LRRN2_ENST00000367177.3_Silent_p.F413F|LRRN2_ENST00000367176.3_Silent_p.F413F			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	413	LRRCT.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			TCATCTCCCGGAAGGGCACCT	0.662																																						uc001hbe.1		NaN																	0				central_nervous_system(2)	2						c.(1237-1239)TTC>TTT		leucine rich repeat neuronal 2 precursor							37.0	39.0	39.0					1																	204587882		2203	4300	6503	SO:0001819	synonymous_variant	10446				cell adhesion	integral to membrane	receptor activity	g.chr1:204587882G>A	AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"""Immunoglobulin superfamily / I-set domain containing"""	16914	protein-coding gene	gene with protein product	"""leucine rich and ankyrin repeats 1"", ""fibronectin type III, immunoglobulin and leucine rich repeat domain 7"""	605492	"""leucine rich repeat neuronal 5"""	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.1239C>T	1.37:g.204587882G>A						MDM4_uc001hbd.1_Intron|LRRN2_uc001hbf.1_Silent_p.F413F|LRRN2_uc009xbf.1_Silent_p.F413F|MDM4_uc001hbc.2_Intron	p.F413F	NM_006338	NP_006329	O75325	LRRN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)		3	1627	-	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		413			Extracellular (Potential).|LRRCT.		B2R624|Q5T0Y0|Q6UXM0|Q8N182	Silent	SNP	ENST00000367175.1	37	c.1239C>T	CCDS1448.1																																																																																				0.662	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089894.1		NM_006338		20	67	0	0	0	0.010504	0	20	67		
CR1	1378	broad.mit.edu	37	1	207679368	207679369	+	Missense_Mutation	DNP	CC	CC	GA			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:207679368_207679369CC>GA	ENST00000367049.4	+	2	241_242	c.241_242CC>GA	c.(241-243)CCg>GAg	p.P81E	CR1_ENST00000367050.4_3'UTR|CR1_ENST00000367051.1_Missense_Mutation_p.P81E|CR1_ENST00000400960.2_Missense_Mutation_p.P81E|CR1_ENST00000367052.1_Missense_Mutation_p.P81E|CR1_ENST00000367053.1_Missense_Mutation_p.P81E	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	81	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTCCGGAAGACCGTTTTCTATC	0.47																																						uc001hfy.2		NaN																	0				ovary(3)	3						c.(241-243)CCG>GAG		complement receptor 1 isoform F precursor																																				SO:0001583	missense	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207679368_207679369CC>GA	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	Exception_encountered	1.37:g.207679368_207679369delinsGA	ENSP00000356016:p.Pro81Glu					CR1_uc009xcl.1_Missense_Mutation_p.P81E|CR1_uc001hfx.2_Missense_Mutation_p.P81E|CR1_uc010psg.1_Missense_Mutation_p.P81E|CR1_uc009xcj.1_Missense_Mutation_p.P81E|CR1_uc009xck.1_Missense_Mutation_p.P81E	p.P81E	NM_000573	NP_000564	P17927	CR1_HUMAN			2	381_382	+			81			Sushi 1.|Extracellular (Potential).		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	DNP	ENST00000367049.4	37	c.241_242CC>GA	CCDS44308.1																																																																																				0.470	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1		NM_000573		8	44	0	0	0	0.004672	0	8	44		
CD46	4179	broad.mit.edu	37	1	207930506	207930506	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:207930506G>A	ENST00000358170.2	+	2	401	c.245G>A	c.(244-246)cGg>cAg	p.R82Q	CD46_ENST00000480003.1_Missense_Mutation_p.R82Q|CD46_ENST00000357714.1_Missense_Mutation_p.R82Q|CD46_ENST00000361067.1_Missense_Mutation_p.R82Q|CD46_ENST00000441839.2_Missense_Mutation_p.R82Q|CD46_ENST00000367047.1_Intron|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000322875.4_Missense_Mutation_p.R82Q|CD46_ENST00000322918.5_Missense_Mutation_p.R82Q|CD46_ENST00000360212.2_Missense_Mutation_p.R82Q|CD46_ENST00000367042.1_Missense_Mutation_p.R82Q|CD46_ENST00000354848.1_Missense_Mutation_p.R82Q|CD46_ENST00000367041.1_Missense_Mutation_p.R82Q	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	82	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adaptive immune response (GO:0002250)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|interleukin-10 production (GO:0032613)|negative regulation of complement activation (GO:0045916)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transforming growth factor beta production (GO:0071636)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)|regulation of Notch signaling pathway (GO:0008593)|sequestering of extracellular ligand from receptor (GO:0035581)|single fertilization (GO:0007338)|T cell mediated immunity (GO:0002456)|viral process (GO:0016032)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|inner acrosomal membrane (GO:0002079)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cadherin binding (GO:0045296)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						ATTTGTGATCGGAATCATACA	0.368																																						uc001hgc.2		NaN																	0				large_intestine(2)|lung(1)|central_nervous_system(1)	4						c.(244-246)CGG>CAG		CD46 antigen, complement regulatory protein							125.0	122.0	123.0					1																	207930506		2203	4300	6503	SO:0001583	missense	4179				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity	g.chr1:207930506G>A	BC030594	CCDS1479.1, CCDS1480.1, CCDS1481.1, CCDS1482.1, CCDS1484.1, CCDS1485.1, CCDS31008.1, CCDS31009.1	1q32	2014-09-17	2006-03-28	2006-02-09	ENSG00000117335	ENSG00000117335		"""CD molecules"", ""Complement system"""	6953	protein-coding gene	gene with protein product		120920	"""antigen identified by monoclonal antibody TRA-2-10"", ""membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)"", ""CD46 antigen, complement regulatory protein"""	MIC10, MCP		7929741	Standard	NM_002389		Approved	TRA2.10, MGC26544, TLX	uc001hgj.3	P15529	OTTHUMG00000036397	ENST00000358170.2:c.245G>A	1.37:g.207930506G>A	ENSP00000350893:p.Arg82Gln					CD46_uc001hgd.2_Missense_Mutation_p.R82Q|CD46_uc001hge.2_Missense_Mutation_p.R82Q|CD46_uc001hgf.2_Missense_Mutation_p.R82Q|CD46_uc001hgg.2_Missense_Mutation_p.R82Q|CD46_uc001hgh.2_Missense_Mutation_p.R82Q|CD46_uc001hgi.2_Missense_Mutation_p.R82Q|CD46_uc001hgj.2_Missense_Mutation_p.R82Q|CD46_uc001hgk.2_Missense_Mutation_p.R82Q|CD46_uc001hgl.2_Missense_Mutation_p.R82Q|CD46_uc001hgm.2_Missense_Mutation_p.R82Q|CD46_uc001hgn.2_Missense_Mutation_p.R82Q|CD46_uc001hgo.2_Missense_Mutation_p.R82Q|CD46_uc001hgp.2_Missense_Mutation_p.R82Q	p.R82Q	NM_002389	NP_002380	P15529	MCP_HUMAN			2	401	+			82			Extracellular (Potential).|Sushi 1.		A0T1T0|A0T1T1|A0T1T2|Q15429|Q53GV9|Q5HY94|Q5VWS6|Q5VWS7|Q5VWS8|Q5VWS9|Q5VWT0|Q5VWT1|Q5VWT2|Q6N0A1|Q7Z3R5|Q9NNW2|Q9NNW3|Q9NNW4|Q9UCJ4	Missense_Mutation	SNP	ENST00000358170.2	37	c.245G>A	CCDS1485.1	.	.	.	.	.	.	.	.	.	.	G	6.600	0.479074	0.12581	.	.	ENSG00000117335	ENST00000358170;ENST00000354848;ENST00000322918;ENST00000367042;ENST00000367041;ENST00000357714;ENST00000322875;ENST00000441839;ENST00000361067;ENST00000360212;ENST00000480003	T;T;T;T;T;T;T;T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0;-0.0;-0.0;-0.0;-0.0;-0.0;-0.0;-0.0	3.72	-7.45	0.01374	Complement control module (2);Sushi/SCR/CCP (3);	2.991740	0.00932	N	0.002728	T	0.53626	0.1808	N	0.13098	0.295	0.09310	N	1	B;B;D;B;D;D;B;D;B;D;B;D;B;D	0.69078	0.111;0.03;0.96;0.111;0.991;0.991;0.111;0.96;0.111;0.973;0.111;0.991;0.03;0.997	B;B;B;B;P;P;B;B;B;B;B;P;B;D	0.63192	0.02;0.001;0.11;0.02;0.729;0.802;0.02;0.11;0.02;0.176;0.02;0.802;0.001;0.912	T	0.55412	-0.8145	10	0.13470	T	0.59	.	6.1926	0.20532	0.1697:0.6276:0.0942:0.1085	.	82;82;82;82;82;82;82;82;82;82;82;82;82;82	P15529-4;P15529-5;P15529-14;P15529-3;P15529-12;P15529-13;P15529-2;P15529-11;P15529-7;P15529-9;P15529-15;P15529-6;P15529-8;P15529	.;.;.;.;.;.;.;.;.;.;.;.;.;MCP_HUMAN	Q	82	ENSP00000350893:R82Q;ENSP00000346912:R82Q;ENSP00000314664:R82Q;ENSP00000356009:R82Q;ENSP00000356008:R82Q;ENSP00000350346:R82Q;ENSP00000313875:R82Q;ENSP00000413543:R82Q;ENSP00000354358:R82Q;ENSP00000353342:R82Q;ENSP00000418471:R82Q	ENSP00000313875:R82Q	R	+	2	0	CD46	205997129	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-1.995000	0.01472	-1.930000	0.01056	-0.339000	0.08088	CGG		0.368	CD46-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088588.3		NM_172361		31	29	0	0	0	0.006999	0	31	29		
FLVCR1	28982	broad.mit.edu	37	1	213032442	213032442	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:213032442C>T	ENST00000366971.4	+	1	846	c.648C>T	c.(646-648)ttC>ttT	p.F216F	FLVCR1-AS1_ENST00000356684.3_lincRNA	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	216					blood vessel development (GO:0001568)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|head morphogenesis (GO:0060323)|heme export (GO:0097037)|heme transport (GO:0015886)|in utero embryonic development (GO:0001701)|mitochondrial transport (GO:0006839)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|regulation of organ growth (GO:0046620)|spleen development (GO:0048536)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	heme transporter activity (GO:0015232)|transporter activity (GO:0005215)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		CCCAGGTGTTCATCCTGGGCT	0.607																																					Esophageal Squamous(199;2235 2952 19233 26256)	uc001hjt.2		NaN																	0					0						c.(646-648)TTC>TTT		feline leukemia virus subgroup C cellular							69.0	60.0	63.0					1																	213032442		2203	4300	6503	SO:0001819	synonymous_variant	28982				cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity	g.chr1:213032442C>T	AF118637	CCDS1510.1	1q32.3	2014-05-30			ENSG00000162769	ENSG00000162769		"""Solute carriers"""	24682	protein-coding gene	gene with protein product		609144	"""ataxia, posterior column 1, with retinitis pigmentosa"""	AXPC1		10400745, 10648427, 21070897	Standard	NM_014053		Approved	FLVCR, MFSD7B, PCA	uc001hjt.3	Q9Y5Y0	OTTHUMG00000036924	ENST00000366971.4:c.648C>T	1.37:g.213032442C>T						LQK1_uc001hjr.3_5'Flank|LQK1_uc001hjs.3_5'Flank	p.F216F	NM_014053	NP_054772	Q9Y5Y0	FLVC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)	1	846	+			216			Helical; (Potential).		Q1HE16|Q86XY9|Q9NVR9	Silent	SNP	ENST00000366971.4	37	c.648C>T	CCDS1510.1	.	.	.	.	.	.	.	.	.	.	C	11.56	1.674142	0.29693	.	.	ENSG00000162769	ENST00000419102	.	.	.	5.5	4.56	0.56223	.	.	.	.	.	T	0.59183	0.2175	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56673	-0.7940	4	.	.	.	-49.4437	8.6629	0.34103	0.0:0.8187:0.0:0.1813	.	.	.	.	L	62	.	.	S	+	2	0	FLVCR1	211099065	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.016000	0.29976	1.236000	0.43740	0.655000	0.94253	TCA		0.607	FLVCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089678.2		NM_014053		46	67	0	0	0	0.00361	0	46	67		
CDC42BPA	8476	broad.mit.edu	37	1	227259910	227259910	+	Splice_Site	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:227259910C>T	ENST00000366769.3	-	20	4117	c.2826G>A	c.(2824-2826)aaG>aaA	p.K942K	CDC42BPA_ENST00000366766.2_Splice_Site_p.K942K|CDC42BPA_ENST00000334218.5_Splice_Site_p.K942K|CDC42BPA_ENST00000366764.2_Splice_Site_p.K942K|CDC42BPA_ENST00000488131.1_5'UTR|CDC42BPA_ENST00000535525.1_Splice_Site_p.K942K|CDC42BPA_ENST00000366765.3_Splice_Site_p.K942K|CDC42BPA_ENST00000366767.3_Splice_Site_p.K861K	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				CTCCCATACCCTTTTCAGATC	0.348																																						uc001hqr.2		NaN																	0				lung(6)|breast(2)|stomach(1)|ovary(1)|pancreas(1)	11						c.(2824-2826)AAG>AAA		CDC42-binding protein kinase alpha isoform B							186.0	170.0	176.0					1																	227259910		2203	4300	6503	SO:0001630	splice_region_variant	8476				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr1:227259910C>T	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.2827+1G>A	1.37:g.227259910C>T						CDC42BPA_uc001hqq.2_Silent_p.K206K|CDC42BPA_uc001hqs.2_Silent_p.K861K|CDC42BPA_uc009xes.2_Silent_p.K942K|CDC42BPA_uc010pvs.1_Silent_p.K942K|CDC42BPA_uc001hqp.2_Silent_p.K98K|CDC42BPA_uc001hqu.1_Silent_p.K98K	p.K942K	NM_003607	NP_003598	Q5VT25	MRCKA_HUMAN			20	3769	-		all_cancers(173;0.156)|Prostate(94;0.0792)	942			Potential.			Silent	SNP	ENST00000366769.3	37	c.2826G>A	CCDS1558.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.671418	0.47781	.	.	ENSG00000143776	ENST00000448940;ENST00000442054;ENST00000441725	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	T	0.65004	0.2650	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62637	-0.6812	4	.	.	.	.	12.9298	0.58280	0.0:0.9261:0.0:0.0738	.	.	.	.	R	145;236;116	.	.	G	-	1	0	CDC42BPA	225326533	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.046000	0.49846	2.662000	0.90505	0.591000	0.81541	GGG		0.348	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1		NM_014826	Silent	8	18	0	0	0	0.000978	0	8	18		
KIAA1804	84451	broad.mit.edu	37	1	233512183	233512183	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:233512183C>A	ENST00000366624.3	+	8	2095	c.1834C>A	c.(1834-1836)Cct>Act	p.P612T	MLK4_ENST00000366622.1_Missense_Mutation_p.P58T	NM_032435.2	NP_115811.2																					TAGGATAAGACCTCTCTCCGA	0.378																																						uc001hvt.3		NaN																	0				lung(5)|central_nervous_system(2)|skin(1)	8						c.(1834-1836)CCT>ACT		mixed lineage kinase 4							105.0	103.0	104.0					1																	233512183		2203	4300	6503	SO:0001583	missense	84451				activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity	g.chr1:233512183C>A																												ENST00000366624.3:c.1834C>A	1.37:g.233512183C>A	ENSP00000355583:p.Pro612Thr					KIAA1804_uc001hvu.3_Missense_Mutation_p.P58T	p.P612T	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN			8	2095	+		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)	612						Missense_Mutation	SNP	ENST00000366624.3	37	c.1834C>A	CCDS1598.1	.	.	.	.	.	.	.	.	.	.	C	13.45	2.240657	0.39598	.	.	ENSG00000143674	ENST00000366624;ENST00000366622	T;T	0.75050	-0.9;3.1	4.96	4.05	0.47172	.	0.065598	0.64402	D	0.000007	T	0.79405	0.4440	L	0.45422	1.42	0.49582	D	0.999803	D;B	0.76494	0.999;0.23	D;B	0.67231	0.95;0.05	T	0.80686	-0.1272	10	0.72032	D	0.01	.	11.6491	0.51277	0.0:0.918:0.0:0.082	.	59;612	Q5TCX8-3;Q5TCX8	.;M3KL4_HUMAN	T	612;58	ENSP00000355583:P612T;ENSP00000355581:P58T	ENSP00000355581:P58T	P	+	1	0	RP5-862P8.2	231578806	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.174000	0.71943	1.302000	0.44855	0.655000	0.94253	CCT		0.378	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1				3	17	1	0	0.000602214	0.000602	0.000615119	3	17		
FH	2271	broad.mit.edu	37	1	241680601	241680601	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:241680601A>T	ENST00000366560.3	-	2	186	c.148T>A	c.(148-150)Ttc>Atc	p.F50I	FH_ENST00000493477.1_5'UTR	NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	50					cellular metabolic process (GO:0044237)|fumarate metabolic process (GO:0006106)|homeostasis of number of cells within a tissue (GO:0048873)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|tricarboxylic acid cycle enzyme complex (GO:0045239)	fumarate hydratase activity (GO:0004333)			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		TCTATCCGGAAGGAATTTTGG	0.383			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer																												Melanoma(148;1573 2486 7381 46575)	uc001hyx.2		NaN	yes	Rec		hereditary leiomyomatosis and renal cell cancer	1	1q42.1	2271	Mis|N|F	fumarate hydratase			"""E, M"""		lieomyomatosis|renal			0				lung(3)|ovary(1)|skin(1)	5						c.(148-150)TTC>ATC		fumarate hydratase precursor							80.0	75.0	77.0					1																	241680601		2203	4300	6503	SO:0001583	missense	2271	Hereditary_Leiomyomatosis_and_Renal_Cell_Cancer	Familial Cancer Database	HLRCC, Reed syndrome, Hereditary Multiple Leiomyomata of Skin and Uterus	fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity	g.chr1:241680601A>T	BC003108	CCDS1617.1	1q42.1	2014-09-17			ENSG00000091483	ENSG00000091483	4.2.1.2		3700	protein-coding gene	gene with protein product		136850					Standard	NM_000143		Approved	fumarase	uc001hyx.3	P07954	OTTHUMG00000039597	ENST00000366560.3:c.148T>A	1.37:g.241680601A>T	ENSP00000355518:p.Phe50Ile						p.F50I	NM_000143	NP_000134	P07954	FUMH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)	2	180	-	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	50					B1ANK7	Missense_Mutation	SNP	ENST00000366560.3	37	c.148T>A	CCDS1617.1	.	.	.	.	.	.	.	.	.	.	A	13.56	2.273949	0.40194	.	.	ENSG00000091483	ENST00000366560	D	0.99571	-6.19	5.75	5.75	0.90469	L-Aspartase-like (1);L-Aspartase-like, N-terminal (1);	0.355582	0.33691	N	0.004643	D	0.97430	0.9159	N	0.08118	0	0.54753	D	0.999989	B	0.06786	0.001	B	0.09377	0.004	D	0.95358	0.8453	10	0.46703	T	0.11	-0.3157	14.2936	0.66298	1.0:0.0:0.0:0.0	.	50	P07954	FUMH_HUMAN	I	50	ENSP00000355518:F50I	ENSP00000355518:F50I	F	-	1	0	FH	239747224	1.000000	0.71417	0.995000	0.50966	0.230000	0.25150	7.315000	0.78998	2.320000	0.78422	0.528000	0.53228	TTC		0.383	FH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095490.1		NM_000143		3	16	0	0	0	0.004672	0	3	16		
PFKP	5214	broad.mit.edu	37	10	3162099	3162099	+	Silent	SNP	C	C	T	rs377404730		TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr10:3162099C>T	ENST00000381125.4	+	16	1622	c.1546C>T	c.(1546-1548)Ctg>Ttg	p.L516L	PFKP_ENST00000381075.2_Silent_p.L508L	NM_002627.4	NP_002618.1	Q01813	PFKAP_HUMAN	phosphofructokinase, platelet	516	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein complex binding (GO:0032403)			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		CCTGGGACTCCTGGAGCTGTC	0.632											OREG0019976	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001igp.2		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)|lung(1)	3						c.(1546-1548)CTG>TTG		phosphofructokinase, platelet							72.0	63.0	66.0					10																	3162099		2203	4300	6503	SO:0001819	synonymous_variant	5214				glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding	g.chr10:3162099C>T	AK092597	CCDS7059.1, CCDS55698.1	10p15.3-p15.2	2006-08-25			ENSG00000067057	ENSG00000067057	2.7.1.11		8878	protein-coding gene	gene with protein product	"""Phosphofructokinase, platelet type"""	171840					Standard	NM_002627		Approved	PFK-C, PFKF	uc001igp.3	Q01813	OTTHUMG00000017556	ENST00000381125.4:c.1546C>T	10.37:g.3162099C>T			OREG0019976	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	609	PFKP_uc001igq.2_Silent_p.L508L|PFKP_uc009xhr.2_Silent_p.L478L|PFKP_uc009xhs.1_Silent_p.L300L|PFKP_uc009xht.2_Silent_p.L254L|PFKP_uc009xhu.2_Silent_p.L22L	p.L516L	NM_002627	NP_002618	Q01813	K6PP_HUMAN		GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)	16	1582	+			516					B3KS15|Q5VSR7|Q5VSR8	Silent	SNP	ENST00000381125.4	37	c.1546C>T	CCDS7059.1																																																																																				0.632	PFKP-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046454.1		NM_002627		72	175	0	0	0	0.00361	0	72	175		
ITIH5	80760	broad.mit.edu	37	10	7621948	7621948	+	Silent	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr10:7621948C>A	ENST00000256861.6	-	9	1266	c.1188G>T	c.(1186-1188)cgG>cgT	p.R396R	ITIH5_ENST00000397145.2_Silent_p.R396R|ITIH5_ENST00000446830.2_Silent_p.R178R|ITIH5_ENST00000397146.2_Silent_p.R396R|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000298441.6_Silent_p.R182R	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	396	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GGGACACGCTCCGGTCTCCAA	0.632																																						uc001ijq.2		NaN																	0				ovary(2)|central_nervous_system(2)	4						c.(1186-1188)CGG>CGT		inter-alpha trypsin inhibitor heavy chain							80.0	70.0	74.0					10																	7621948		2203	4300	6503	SO:0001819	synonymous_variant	80760				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7621948C>A			10p14	2011-10-26	2011-10-26		ENSG00000123243	ENSG00000123243			21449	protein-coding gene	gene with protein product		609783	"""inter-alpha (globulin) inhibitor H5"""			14744536	Standard	NM_001001851		Approved	MGC10848	uc021pmv.1	Q86UX2	OTTHUMG00000017635	ENST00000256861.6:c.1188G>T	10.37:g.7621948C>A						ITIH5_uc001ijp.2_Silent_p.R182R|ITIH5_uc001ijr.1_Silent_p.R396R	p.R396R	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN			9	1267	-			396			VWFA.		Q5T664|Q5T665|Q5T666|Q6AI60|Q6UXB7|Q8TF48|Q8WYV2|Q96K70	Silent	SNP	ENST00000256861.6	37	c.1188G>T																																																																																					0.632	ITIH5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000046688.1		NM_030569		44	38	1	0	8.20599e-20	0.002852	9.07311e-20	44	38		
PRPF18	8559	broad.mit.edu	37	10	13655788	13655788	+	Silent	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr10:13655788T>C	ENST00000378572.3	+	7	787	c.627T>C	c.(625-627)taT>taC	p.Y209Y		NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18	209					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	potassium channel inhibitor activity (GO:0019870)			central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						GAGAAGATTATGTGAAACGCA	0.453																																						uc001imp.2		NaN																	0				central_nervous_system(1)	1						c.(625-627)TAT>TAC		PRP18 pre-mRNA processing factor 18 homolog							110.0	107.0	108.0					10																	13655788		2203	4300	6503	SO:0001819	synonymous_variant	8559				mRNA processing|RNA splicing	nuclear speck|spliceosomal complex		g.chr10:13655788T>C	U51990	CCDS7100.1	10p12.33	2013-06-10	2013-06-10		ENSG00000165630	ENSG00000165630			17351	protein-coding gene	gene with protein product		604993	"""PRP18 pre-mRNA processing factor 18 homolog (yeast)"", ""PRP18 pre-mRNA processing factor 18 homolog (S. cerevisiae)"""			9000057	Standard	XM_005252634		Approved	hPrp18	uc001imp.3	Q99633	OTTHUMG00000017702	ENST00000378572.3:c.627T>C	10.37:g.13655788T>C						PRPF18_uc001imq.2_Intron	p.Y209Y	NM_003675	NP_003666	Q99633	PRP18_HUMAN			7	775	+			209					Q5T9P9|Q9BUI9	Silent	SNP	ENST00000378572.3	37	c.627T>C	CCDS7100.1																																																																																				0.453	PRPF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046879.1				10	41	0	0	0	0.000978	0	10	41		
ZNF485	220992	broad.mit.edu	37	10	44112556	44112556	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr10:44112556G>A	ENST00000361807.3	+	5	1259	c.1065G>A	c.(1063-1065)caG>caA	p.Q355Q	ZNF485_ENST00000374435.3_Silent_p.Q355Q|ZNF485_ENST00000374437.2_Silent_p.Q264Q	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	355					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16						AACCGTATCAGTGTCGTGACT	0.428																																						uc010qfc.1		NaN																	0					0						c.(1063-1065)CAG>CAA		zinc finger protein 485							115.0	104.0	108.0					10																	44112556		2203	4300	6503	SO:0001819	synonymous_variant	220992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:44112556G>A	AK074679	CCDS7205.2	10q11.21	2013-01-08			ENSG00000198298	ENSG00000198298		"""Zinc fingers, C2H2-type"", ""-"""	23440	protein-coding gene	gene with protein product							Standard	NM_145312		Approved		uc010qfc.2	Q8NCK3	OTTHUMG00000018040	ENST00000361807.3:c.1065G>A	10.37:g.44112556G>A						ZNF485_uc010qfd.1_Silent_p.Q264Q	p.Q355Q	NM_145312	NP_660355	Q8NCK3	ZN485_HUMAN			5	1259	+			355			C2H2-type 9.		B4DSE6|Q96CL0	Silent	SNP	ENST00000361807.3	37	c.1065G>A	CCDS7205.2																																																																																				0.428	ZNF485-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047719.2		NM_145312		17	69	0	0	0	0.008871	0	17	69		
SYT15	83849	broad.mit.edu	37	10	46969378	46969378	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr10:46969378A>G	ENST00000374321.4	-	2	149	c.83T>C	c.(82-84)cTg>cCg	p.L28P	SYT15_ENST00000374323.4_Intron|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000503753.1_Missense_Mutation_p.L28P|SYT15_ENST00000374325.3_Missense_Mutation_p.L28P	NM_031912.4	NP_114118.2	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	28						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CCTTCTCCACAGACAGCAGCT	0.652																																					Ovarian(57;1152 1428 19651 37745)	uc001jea.2		NaN																	0					0						c.(82-84)CTG>CCG		synaptotagmin XV isoform a							34.0	43.0	40.0					10																	46969378		2167	4284	6451	SO:0001583	missense	83849					integral to membrane|plasma membrane		g.chr10:46969378A>G	AJ303363	CCDS73103.1, CCDS73104.1	10q11.1	2013-01-21			ENSG00000204176	ENSG00000204176		"""Synaptotagmins"""	17167	protein-coding gene	gene with protein product		608081				11543631	Standard	NM_031912		Approved	CHR10SYT	uc001jea.3	Q9BQS2	OTTHUMG00000018103	ENST00000374321.4:c.83T>C	10.37:g.46969378A>G	ENSP00000363441:p.Leu28Pro					SYT15_uc001jdz.2_Missense_Mutation_p.L28P|SYT15_uc001jeb.2_Intron|SYT15_uc010qfp.1_5'Flank	p.L28P	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN			2	236	-			28			Helical; Signal-anchor for type III membrane protein; (Potential).		A5D6W8|Q5VY53|Q5VY55|Q7Z439|Q7Z440	Missense_Mutation	SNP	ENST00000374321.4	37	c.83T>C	CCDS44376.1	.	.	.	.	.	.	.	.	.	.	a	17.92	3.505932	0.64410	.	.	ENSG00000204176	ENST00000416127;ENST00000374325;ENST00000503753;ENST00000374321	T;T;T	0.25579	1.79;1.79;2.12	4.04	4.04	0.47022	.	.	.	.	.	T	0.46268	0.1384	M	0.69823	2.125	0.50813	D	0.999893	D;D	0.89917	1.0;1.0	D;D	0.78314	0.98;0.991	T	0.44221	-0.9342	9	0.59425	D	0.04	.	9.5632	0.39383	1.0:0.0:0.0:0.0	.	28;28	Q9BQS2;Q9BQS2-2	SYT15_HUMAN;.	P	28	ENSP00000363445:L28P;ENSP00000427607:L28P;ENSP00000363441:L28P	ENSP00000363441:L28P	L	-	2	0	SYT15	46389384	0.998000	0.40836	0.564000	0.28396	0.951000	0.60555	2.464000	0.45067	1.830000	0.53286	0.383000	0.25322	CTG		0.652	SYT15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367008.1		NM_031912		55	162	0	0	0	0.00361	0	55	162		
NRBF2	29982	broad.mit.edu	37	10	64911926	64911926	+	Silent	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr10:64911926C>G	ENST00000277746.6	+	3	313	c.132C>G	c.(130-132)gcC>gcG	p.A44A	NRBF2_ENST00000435510.2_Silent_p.A34A	NM_030759.3	NP_110386.2	Q96F24	NRBF2_HUMAN	nuclear receptor binding factor 2	44					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)				large_intestine(2)|lung(3)|skin(1)	6	Prostate(12;0.0119)|all_hematologic(501;0.191)					TTTCTGAAGCCATGAAGCTGA	0.353																																						uc001jmj.3		NaN																	0					0						c.(130-132)GCC>GCG		nuclear receptor binding factor 2							81.0	79.0	80.0					10																	64911926		2203	4300	6503	SO:0001819	synonymous_variant	29982				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	cytoplasm|nucleoplasm	protein binding	g.chr10:64911926C>G	D82519	CCDS7268.1, CCDS60537.1	10q22.1	2012-11-01			ENSG00000148572	ENSG00000148572			19692	protein-coding gene	gene with protein product	"""comodulator of PPAR and RXR 1"", ""comodulator of PPAR and RXR 2"""					10786636	Standard	NM_001282405		Approved	DKFZp564C1664, FLJ30395, COPR1, COPR2	uc001jmj.4	Q96F24	OTTHUMG00000018309	ENST00000277746.6:c.132C>G	10.37:g.64911926C>G						NRBF2_uc010qip.1_Silent_p.A34A	p.A44A	NM_030759	NP_110386	Q96F24	NRBF2_HUMAN			3	356	+	Prostate(12;0.0119)|all_hematologic(501;0.191)		44					A6PW36|B4DWS0|Q86UR2|Q96NP6|Q9H0S9|Q9H2I2	Silent	SNP	ENST00000277746.6	37	c.132C>G	CCDS7268.1																																																																																				0.353	NRBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048247.1		NM_030759		8	43	0	0	0	0.008291	0	8	43		
PSAP	5660	broad.mit.edu	37	10	73574769	73574769	+	IGR	SNP	C	C	T	rs201727938		TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr10:73574769C>T	ENST00000394936.3	-	0	2866				CDH23_ENST00000224721.6_Missense_Mutation_p.R3272C|CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.R1027C			P07602	SAP_HUMAN	prosaposin						blood coagulation (GO:0007596)|cellular response to organic substance (GO:0071310)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|glycosphingolipid metabolic process (GO:0006687)|lipid transport (GO:0006869)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catalytic activity (GO:0043085)|prostate gland growth (GO:0060736)|regulation of lipid metabolic process (GO:0019216)|regulation of MAPK cascade (GO:0043408)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|lipid binding (GO:0008289)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						GGGTAGCCTGCGCTTCCGCCA	0.667													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14086	0.0		0.0	False		,,,				2504	0.0					uc001jrx.3		NaN																	0				central_nervous_system(5)|large_intestine(4)|ovary(2)	11						c.(9799-9801)CGC>TGC		cadherin-like 23 isoform 1 precursor		C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	2,4154		0,2,2076	15.0	21.0	19.0		3079,2974,490,385,9799	5.2	1.0	10		19	1,8409		0,1,4204	yes	missense,missense,missense,missense,missense	CDH23	NM_001171933.1,NM_001171934.1,NM_001171935.1,NM_001171936.1,NM_022124.5	180,180,180,180,180	0,3,6280	TT,TC,CC		0.0119,0.0481,0.0239	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1027/1115,992/1080,164/252,129/217,3267/3355	73574769	3,12563	2078	4205	6283	SO:0001628	intergenic_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73574769C>T	BC004275	CCDS7311.1	10q21-q22	2014-01-30	2008-07-31		ENSG00000197746	ENSG00000197746		"""Endogenous ligands"""	9498	protein-coding gene	gene with protein product	"""variant Gaucher disease and variant metachromatic leukodystrophy"""	176801	"""sphingolipid activator protein-1"""	SAP1, GLBA		2717620	Standard	NM_001042465		Approved		uc001jsm.3	P07602	OTTHUMG00000018429		10.37:g.73574769C>T						CDH23_uc001jsg.3_Missense_Mutation_p.R1027C|CDH23_uc001jsh.3_Missense_Mutation_p.R992C|CDH23_uc001jsi.3_Missense_Mutation_p.R992C|CDH23_uc001jsj.3_Missense_Mutation_p.R164C|CDH23_uc010qjr.1_Missense_Mutation_p.R129C	p.R3267C	NM_022124	NP_071407	Q9H251	CAD23_HUMAN			68	10176	+			3267			Cytoplasmic (Potential).		P07292|P15793|P78538|P78541|P78546|P78547|P78558|Q53Y86|Q6IBQ6|Q92739|Q92740|Q92741|Q92742	Missense_Mutation	SNP	ENST00000394936.3	37	c.9799C>T	CCDS7311.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.171801	0.78452	4.81E-4	1.19E-4	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398788	T	0.81330	-1.48	5.21	5.21	0.72293	.	0.063357	0.64402	D	0.000004	D	0.88085	0.6342	L	0.54323	1.7	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.995;1.0	D;D;P;D	0.83275	0.966;0.996;0.482;0.993	D	0.89109	0.3495	10	0.87932	D	0	.	18.7581	0.91839	0.0:1.0:0.0:0.0	.	129;164;3232;3267	Q5QGS5;Q5QGS6;E9PEX1;Q9H251	.;.;.;CAD23_HUMAN	C	3272;3232;3270;1027	ENSP00000381768:R1027C	ENSP00000224721:R3272C	R	+	1	0	CDH23	73244775	1.000000	0.71417	0.996000	0.52242	0.370000	0.29829	7.409000	0.80053	2.443000	0.82685	0.655000	0.94253	CGC		0.667	PSAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048553.1		NM_002778		15	86	0	0	0	0.006122	0	15	86		
CAMK2G	818	broad.mit.edu	37	10	75634270	75634270	+	De_novo_Start_InFrame	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr10:75634270C>T	ENST00000351293.3	-	0	7				CAMK2G_ENST00000444854.2_De_novo_Start_InFrame|CAMK2G_ENST00000322635.3_De_novo_Start_InFrame|CAMK2G_ENST00000305762.7_5'Flank|CAMK2G_ENST00000372765.1_5'Flank|CAMK2G_ENST00000322680.3_De_novo_Start_InFrame|CAMK2G_ENST00000423381.1_De_novo_Start_InFrame|CAMK2G_ENST00000472912.1_5'UTR|CAMK2G_ENST00000394762.2_De_novo_Start_InFrame	NM_001222.3|NM_172173.2	NP_001213.2|NP_751913.1	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II gamma						calcium ion transport (GO:0006816)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|dephosphorylation (GO:0016311)|G1/S transition of mitotic cell cycle (GO:0000082)|insulin secretion (GO:0030073)|interferon-gamma-mediated signaling pathway (GO:0060333)|nervous system development (GO:0007399)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of calcium ion transport (GO:0051924)|regulation of relaxation of cardiac muscle (GO:1901897)|regulation of skeletal muscle adaptation (GO:0014733)|synaptic transmission (GO:0007268)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)	ATP binding (GO:0005524)|calcium-dependent protein serine/threonine phosphatase activity (GO:0004723)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)			kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)				Bosutinib(DB06616)	CGTCGGTGCACAGTCACCGCC	0.726																																						uc001jvv.1		NaN																	0				lung(1)|stomach(1)	2						c.(-52--48)CTGTG>CTATG		calcium/calmodulin-dependent protein kinase II							15.0	17.0	16.0					10																	75634270		2053	3895	5948			818				insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr10:75634270C>T	U81554	CCDS7336.1, CCDS7337.1, CCDS7338.1, CCDS73153.1	10q22	2008-10-30	2008-10-30		ENSG00000148660	ENSG00000148660			1463	protein-coding gene	gene with protein product		602123	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II gamma"""	CAMKG		8287681	Standard	NM_001204492		Approved		uc001jvm.2	Q13555	OTTHUMG00000018492		10.37:g.75634270C>T						CAMK2G_uc001jvm.1_Translation_Start_Site|CAMK2G_uc001jvo.1_Translation_Start_Site|CAMK2G_uc001jvq.1_Translation_Start_Site|CAMK2G_uc001jvr.1_Translation_Start_Site|CAMK2G_uc001jvp.1_Translation_Start_Site|CAMK2G_uc001jvs.1_Translation_Start_Site|CAMK2G_uc001jvt.1_RNA|CAMK2G_uc001jvu.1_Translation_Start_Site|CAMK2G_uc010qkv.1_Translation_Start_Site		NM_172171	NP_751911	Q13555	KCC2G_HUMAN			1	74	-	Prostate(51;0.0112)							O00561|O15378|Q13279|Q13282|Q13556|Q5SQZ3|Q5SQZ4|Q5SWX4|Q7KYX5|Q8N4I3|Q8NIA4	Translation_Start_Site	SNP	ENST00000351293.3	37	c.-50G>A	CCDS7336.1																																																																																				0.726	CAMK2G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048715.1		NM_172169		8	27	0	0	0	0.000978	0	8	27		
PLCE1	51196	broad.mit.edu	37	10	96025625	96025625	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr10:96025625C>T	ENST00000371380.3	+	15	4426	c.4191C>T	c.(4189-4191)ccC>ccT	p.P1397P	PLCE1_ENST00000371385.3_Silent_p.P1089P|PLCE1_ENST00000371375.1_Silent_p.P1089P|PLCE1_ENST00000260766.3_Silent_p.P1397P			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1397	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TGCAGCTACCCCTCTCATACT	0.413																																						uc001kjk.2		NaN																	0				ovary(2)|skin(1)	3						c.(4189-4191)CCC>CCT		phospholipase C, epsilon 1 isoform 1							107.0	102.0	104.0					10																	96025625		1871	4113	5984	SO:0001819	synonymous_variant	51196				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	g.chr10:96025625C>T		CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.4191C>T	10.37:g.96025625C>T						PLCE1_uc010qnx.1_Silent_p.P1381P|PLCE1_uc001kjm.2_Silent_p.P1089P	p.P1397P	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN			16	4825	+		Colorectal(252;0.0458)	1397			PI-PLC X-box.		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Silent	SNP	ENST00000371380.3	37	c.4191C>T	CCDS41552.1																																																																																				0.413	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049469.3		NM_016341		18	4	0	0	0	0.007413	0	18	4		
PDZD8	118987	broad.mit.edu	37	10	119044045	119044045	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr10:119044045A>T	ENST00000334464.5	-	5	2438	c.2199T>A	c.(2197-2199)agT>agA	p.S733R	PDZD8_ENST00000482496.1_5'UTR	NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	733					cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|regulation of cell morphogenesis (GO:0022604)|viral process (GO:0016032)	membrane (GO:0016020)	metal ion binding (GO:0046872)			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		CAAGTTTTAAACTAACATGCC	0.438																																						uc001lde.1		NaN																	0					0						c.(2197-2199)AGT>AGA		PDZ domain containing 8							124.0	112.0	116.0					10																	119044045		2203	4300	6503	SO:0001583	missense	118987				intracellular signal transduction		metal ion binding	g.chr10:119044045A>T	AL122051	CCDS7600.1	10q26.12	2006-01-24		2006-01-24	ENSG00000165650	ENSG00000165650			26974	protein-coding gene	gene with protein product		614235		PDZK8		12477932	Standard	NM_173791		Approved	bA129M16.2, FLJ34427	uc001lde.1	Q8NEN9	OTTHUMG00000019122	ENST00000334464.5:c.2199T>A	10.37:g.119044045A>T	ENSP00000334642:p.Ser733Arg						p.S733R	NM_173791	NP_776152	Q8NEN9	PDZD8_HUMAN		all cancers(201;0.0121)	5	2398	-		Colorectal(252;0.19)	733					Q86WE0|Q86WE5|Q9UFF1	Missense_Mutation	SNP	ENST00000334464.5	37	c.2199T>A	CCDS7600.1	.	.	.	.	.	.	.	.	.	.	A	15.21	2.765546	0.49574	.	.	ENSG00000165650	ENST00000334464	D	0.89343	-2.5	5.96	3.71	0.42584	.	0.000000	0.85682	D	0.000000	D	0.89283	0.6671	L	0.34521	1.04	0.47737	D	0.999507	D	0.89917	1.0	D	0.85130	0.997	D	0.88199	0.2882	10	0.87932	D	0	-12.1971	6.2779	0.20991	0.6477:0.0:0.3523:0.0	.	733	Q8NEN9	PDZD8_HUMAN	R	733	ENSP00000334642:S733R	ENSP00000334642:S733R	S	-	3	2	PDZD8	119034035	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	2.267000	0.43329	1.120000	0.41904	0.533000	0.62120	AGT		0.438	PDZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050565.1		NM_173791		12	4	0	0	0	0.00245	0	12	4		
MKI67	4288	broad.mit.edu	37	10	129903242	129903242	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr10:129903242G>A	ENST00000368654.3	-	13	7237	c.6862C>T	c.(6862-6864)Cag>Tag	p.Q2288*	MKI67_ENST00000368653.3_Nonsense_Mutation_p.Q1928*	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2288	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCCAATTTCTGCACTGGAGTT	0.483																																						uc001lke.2		NaN																	0				ovary(4)|central_nervous_system(2)|skin(1)	7						c.(6862-6864)CAG>TAG		antigen identified by monoclonal antibody Ki-67							205.0	198.0	201.0					10																	129903242		2203	4300	6503	SO:0001587	stop_gained	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129903242G>A	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.6862C>T	10.37:g.129903242G>A	ENSP00000357643:p.Gln2288*					MKI67_uc001lkf.2_Nonsense_Mutation_p.Q1928*|MKI67_uc009yav.1_Nonsense_Mutation_p.Q1863*|MKI67_uc009yaw.1_Nonsense_Mutation_p.Q1438*	p.Q2288*	NM_002417	NP_002408	P46013	KI67_HUMAN			13	7057	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	2288			16 X 122 AA approximate repeats.|11.		Q5VWH2	Nonsense_Mutation	SNP	ENST00000368654.3	37	c.6862C>T	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	G	47	13.784469	0.99763	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	.	.	.	3.6	-0.298	0.12814	.	0.458333	0.16245	N	0.222952	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	8.3388	0.32230	0.0965:0.3731:0.5304:0.0	.	.	.	.	X	2288;1928;2287	.	ENSP00000357642:Q1928X	Q	-	1	0	MKI67	129793232	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.971000	0.03806	0.138000	0.18790	0.561000	0.74099	CAG		0.483	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1		NM_002417		45	20	0	0	0	0.00361	0	45	20		
GPR123	84435	broad.mit.edu	37	10	134912182	134912182	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr10:134912182T>A	ENST00000392607.3	+	4	606	c.170T>A	c.(169-171)cTg>cAg	p.L57Q	GPR123_ENST00000607359.1_Missense_Mutation_p.L777Q	NM_001083909.1	NP_001077378.1	Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	57					G-protein coupled receptor signaling pathway (GO:0007186)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		CACACGCTCCTGAATTTCTGC	0.652																																						uc001llx.3		NaN																	0					0						c.(169-171)CTG>CAG		G protein-coupled receptor 123							76.0	69.0	71.0					10																	134912182		2203	4300	6503	SO:0001583	missense	84435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:134912182T>A	AB058731	CCDS41580.1	10q26	2014-08-08			ENSG00000197177	ENSG00000197177		"""-"", ""GPCR / Class B : Orphans"""	13838	protein-coding gene	gene with protein product		612302				12565841	Standard	XM_005252695		Approved	KIAA1828	uc001llw.3	Q86SQ6	OTTHUMG00000019304	ENST00000392607.3:c.170T>A	10.37:g.134912182T>A	ENSP00000376384:p.Leu57Gln					GPR123_uc001llw.2_Missense_Mutation_p.L777Q	p.L57Q	NM_001083909	NP_001077378	Q86SQ6	GP123_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)	4	606	+		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)	57			Helical; Name=2; (Potential).		A5HL16|A6NG50|Q5T234|Q86SN7|Q96JJ9	Missense_Mutation	SNP	ENST00000392607.3	37	c.170T>A	CCDS41580.1	.	.	.	.	.	.	.	.	.	.	T	18.81	3.703568	0.68501	.	.	ENSG00000197177	ENST00000368577;ENST00000392609;ENST00000392607	T	0.66815	-0.23	4.35	4.35	0.52113	GPCR, family 2-like (1);	0.314023	0.21768	N	0.069420	T	0.81973	0.4936	M	0.86178	2.8	0.80722	D	1	P;D	0.71674	0.944;0.998	D;D	0.76071	0.925;0.987	D	0.84613	0.0679	10	0.87932	D	0	-26.9145	11.7929	0.52080	0.0:0.0:0.0:1.0	.	57;777	Q86SQ6;Q86SQ6-1	GP123_HUMAN;.	Q	777;777;57	ENSP00000376384:L57Q	ENSP00000357566:L777Q	L	+	2	0	GPR123	134762172	1.000000	0.71417	0.802000	0.32245	0.441000	0.31987	5.422000	0.66453	1.740000	0.51718	0.533000	0.62120	CTG		0.652	GPR123-003	NOVEL	basic|appris_candidate|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051113.2				88	45	0	0	0	0.00361	0	88	45		
NLRP6	171389	broad.mit.edu	37	11	285201	285201	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr11:285201A>G	ENST00000312165.5	+	8	2576	c.2576A>G	c.(2575-2577)cAg>cGg	p.Q859R	RP11-326C3.2_ENST00000534742.1_RNA|NLRP6_ENST00000534750.1_Missense_Mutation_p.Q858R|RP11-326C3.2_ENST00000525217.1_RNA|RP11-326C3.2_ENST00000533924.1_RNA	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	859					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CAGTCACTACAGGAGCTTCAG	0.622																																						uc010qvs.1		NaN																	0				upper_aerodigestive_tract(1)|skin(1)	2						c.(2575-2577)CAG>CGG		NLR family, pyrin domain containing 6							65.0	53.0	57.0					11																	285201		2202	4298	6500	SO:0001583	missense	171389					cytoplasm	ATP binding	g.chr11:285201A>G	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"""Nucleotide-binding domain and leucine rich repeat containing"""	22944	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"""	609650	"""NACHT, leucine rich repeat and PYD containing 6"""	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.2576A>G	11.37:g.285201A>G	ENSP00000309767:p.Gln859Arg					NLRP6_uc010qvt.1_Missense_Mutation_p.Q858R	p.Q859R	NM_138329	NP_612202	P59044	NALP6_HUMAN		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)	8	2576	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	859			LRR 5.		A8K9F3|E9PJZ8	Missense_Mutation	SNP	ENST00000312165.5	37	c.2576A>G	CCDS7693.1	.	.	.	.	.	.	.	.	.	.	a	0.041	-1.284612	0.01398	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.53206	0.63;0.63	2.17	1.04	0.20106	.	.	.	.	.	T	0.21145	0.0509	N	0.04746	-0.17	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.0	T	0.19844	-1.0293	9	0.21540	T	0.41	.	4.0851	0.09943	0.61:0.0:0.39:0.0	.	858;859	E9PJZ8;P59044	.;NALP6_HUMAN	R	858;859	ENSP00000433617:Q858R;ENSP00000309767:Q859R	ENSP00000309767:Q859R	Q	+	2	0	NLRP6	275201	0.995000	0.38212	0.005000	0.12908	0.127000	0.20565	1.899000	0.39818	0.297000	0.22615	0.456000	0.33151	CAG		0.622	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1		NM_138329		7	14	0	0	0	0.006214	0	7	14		
CARS	833	broad.mit.edu	37	11	3026647	3026647	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr11:3026647C>T	ENST00000397111.5	-	19	2162	c.1917G>A	c.(1915-1917)gtG>gtA	p.V639V	CARS_ENST00000401769.3_Silent_p.V652V|CARS_ENST00000470221.2_5'UTR|CARS_ENST00000380525.4_Silent_p.V722V|CARS_ENST00000397114.3_Silent_p.V629V|CARS_ENST00000278224.9_Silent_p.V639V			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase	639					cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	CTACCAGTTTCACCACTGTGG	0.493			T	ALK	ALCL																																Ovarian(61;932 1157 5961 20446 52152)	uc001lxh.2		NaN		Dom	yes		11	11p15.5	833	T	cysteinyl-tRNA synthetase			L	ALK		ALCL	CARS/ALK(5)	0				soft_tissue(5)|ovary(2)	7						c.(1915-1917)GTG>GTA		cysteinyl-tRNA synthetase isoform b	L-Cysteine(DB00151)						156.0	151.0	153.0					11																	3026647		2202	4298	6500	SO:0001819	synonymous_variant	833				cysteinyl-tRNA aminoacylation	cytoplasm|cytosol	ATP binding|cysteine-tRNA ligase activity|metal ion binding|protein homodimerization activity|protein homodimerization activity|tRNA binding|tRNA binding	g.chr11:3026647C>T	AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	1493	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 1, cytoplasmic"""	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.1917G>A	11.37:g.3026647C>T						CARS_uc009ydu.2_RNA|CARS_uc001lxe.2_Silent_p.V629V|CARS_uc001lxf.2_Silent_p.V722V|CARS_uc001lxg.2_Silent_p.V639V|CARS_uc010qxo.1_Silent_p.V722V|CARS_uc010qxp.1_Silent_p.V652V	p.V639V	NM_001751	NP_001742	P49589	SYCC_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	19	1991	-		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)	639					Q53XI8|Q5HYE4|Q9HD24|Q9HD25	Silent	SNP	ENST00000397111.5	37	c.1917G>A	CCDS7742.1																																																																																				0.493	CARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000030117.4		NM_001751		30	39	0	0	0	0.003755	0	30	39		
OR52N5	390075	broad.mit.edu	37	11	5799737	5799737	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr11:5799737T>A	ENST00000317093.2	-	1	160	c.128A>T	c.(127-129)tAc>tTc	p.Y43F	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	43						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GAAGATGATGTACATTGTGCA	0.408																																						uc010qzn.1		NaN																	0				skin(2)	2						c.(127-129)TAC>TTC		olfactory receptor, family 52, subfamily N,							148.0	131.0	137.0					11																	5799737		2124	4104	6228	SO:0001583	missense	390075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5799737T>A	AB065535	CCDS31397.1	11p15.4	2012-08-09			ENSG00000181009	ENSG00000181009		"""GPCR / Class A : Olfactory receptors"""	15231	protein-coding gene	gene with protein product							Standard	NM_001001922		Approved	OR52N5Q	uc010qzn.2	Q8NH56	OTTHUMG00000168799	ENST00000317093.2:c.128A>T	11.37:g.5799737T>A	ENSP00000322866:p.Tyr43Phe					TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.1_Intron	p.Y43F	NM_001001922	NP_001001922	Q8NH56	O52N5_HUMAN		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)	1	128	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	43			Helical; Name=1; (Potential).		B9EH12|Q6IFG2	Missense_Mutation	SNP	ENST00000317093.2	37	c.128A>T	CCDS31397.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.063719	0.76187	.	.	ENSG00000181009	ENST00000317093	T	0.04970	3.52	3.58	3.58	0.41010	.	0.000000	0.28859	U	0.013901	T	0.18257	0.0438	M	0.63208	1.945	0.29137	N	0.879268	D	0.65815	0.995	D	0.63597	0.916	T	0.00883	-1.1528	10	0.87932	D	0	.	11.4201	0.49976	0.0:0.0:0.0:1.0	.	43	Q8NH56	O52N5_HUMAN	F	43	ENSP00000322866:Y43F	ENSP00000322866:Y43F	Y	-	2	0	OR52N5	5756313	1.000000	0.71417	0.654000	0.29608	0.431000	0.31685	4.492000	0.60334	1.627000	0.50400	0.321000	0.21382	TAC		0.408	OR52N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401141.1		NM_001001922		44	36	0	0	0	0.00361	0	44	36		
RRP8	23378	broad.mit.edu	37	11	6621449	6621449	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr11:6621449C>T	ENST00000254605.6	-	7	1415	c.1298G>A	c.(1297-1299)gGg>gAg	p.G433E	RRP8_ENST00000534343.1_Missense_Mutation_p.G117E	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	433					cellular response to glucose starvation (GO:0042149)|chromatin modification (GO:0016568)|chromatin silencing at rDNA (GO:0000183)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription by glucose (GO:0046015)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|rDNA heterochromatin (GO:0033553)	methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						CAGAGGGGGCCCAGTCTTTTG	0.522																																						uc001med.2		NaN																	0					0						c.(1297-1299)GGG>GAG		ribosomal RNA processing 8, methyltransferase,							54.0	62.0	59.0					11																	6621449		2201	4296	6497	SO:0001583	missense	23378				chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity	g.chr11:6621449C>T	AB007869	CCDS31411.1	11p15.4	2009-02-23	2009-02-23	2009-02-23	ENSG00000132275	ENSG00000132275			29030	protein-coding gene	gene with protein product	RRP8 methyltransferase homolog (S. cerevisiae)	615818	"""KIAA0409"""	KIAA0409		9455477	Standard	NM_015324		Approved		uc001med.3	O43159		ENST00000254605.6:c.1298G>A	11.37:g.6621449C>T	ENSP00000254605:p.Gly433Glu						p.G433E	NM_015324	NP_056139	O43159	RRP8_HUMAN			7	1377	-			433					Q7KZ78|Q9BVM6	Missense_Mutation	SNP	ENST00000254605.6	37	c.1298G>A	CCDS31411.1	.	.	.	.	.	.	.	.	.	.	C	3.785	-0.044863	0.07452	.	.	ENSG00000132275	ENST00000254605;ENST00000534343	T;T	0.39229	1.09;1.09	5.36	5.36	0.76844	.	0.319926	0.32533	N	0.005967	T	0.32133	0.0819	N	0.10733	0.035	0.36741	D	0.882243	P	0.51791	0.948	P	0.48795	0.59	T	0.25710	-1.0124	10	0.26408	T	0.33	.	16.6398	0.85069	0.0:1.0:0.0:0.0	.	433	O43159	RRP8_HUMAN	E	433;117	ENSP00000254605:G433E;ENSP00000436960:G117E	ENSP00000254605:G433E	G	-	2	0	RRP8	6578025	0.951000	0.32395	0.998000	0.56505	0.476000	0.33039	2.343000	0.44001	2.793000	0.96121	0.561000	0.74099	GGG		0.522	RRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384505.1		NM_015324		24	21	0	0	0	0.007291	0	24	21		
DCHS1	8642	broad.mit.edu	37	11	6652344	6652344	+	Silent	SNP	T	T	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr11:6652344T>A	ENST00000299441.3	-	9	4281	c.3870A>T	c.(3868-3870)acA>acT	p.T1290T	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1290	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGCACTCAGTGTCAGCACAT	0.622																																						uc001mem.1		NaN																	0				ovary(3)|large_intestine(1)|pancreas(1)	5						c.(3868-3870)ACA>ACT		dachsous 1 precursor							36.0	31.0	33.0					11																	6652344		2201	4296	6497	SO:0001819	synonymous_variant	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6652344T>A	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.3870A>T	11.37:g.6652344T>A							p.T1290T	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	9	4280	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	1290			Cadherin 12.|Extracellular (Potential).		O15098	Silent	SNP	ENST00000299441.3	37	c.3870A>T	CCDS7771.1																																																																																				0.622	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1		NM_003737		13	21	0	0	0	0.004007	0	13	21		
E2F8	79733	broad.mit.edu	37	11	19253864	19253864	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr11:19253864A>G	ENST00000527884.1	-	7	1215	c.983T>C	c.(982-984)aTc>aCc	p.I328T	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Missense_Mutation_p.I328T	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	328					cell cycle comprising mitosis without cytokinesis (GO:0033301)|chorionic trophoblast cell differentiation (GO:0060718)|hepatocyte differentiation (GO:0070365)|negative regulation of cytokinesis (GO:0032466)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|placenta development (GO:0001890)|positive regulation of DNA endoreduplication (GO:0032877)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sprouting angiogenesis (GO:0002040)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AACTTTCTTGATAAGATCCAG	0.358																																						uc001mpm.2		NaN																	0				skin(1)	1						c.(982-984)ATC>ACC		E2F family member 8							179.0	185.0	183.0					11																	19253864		2199	4293	6492	SO:0001583	missense	79733				cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:19253864A>G		CCDS7849.1	11p15	2008-02-05			ENSG00000129173	ENSG00000129173			24727	protein-coding gene	gene with protein product		612047				15722552	Standard	NM_024680		Approved	FLJ23311	uc001mpo.2	A0AVK6	OTTHUMG00000166102	ENST00000527884.1:c.983T>C	11.37:g.19253864A>G	ENSP00000434199:p.Ile328Thr					E2F8_uc009yhv.2_RNA|E2F8_uc001mpn.3_Missense_Mutation_p.I328T	p.I328T	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN			7	1505	-			328			Potential.		A8K9H3|Q2VPJ3|Q3C1U6|Q5BKY4|Q8N340|Q9H5M0	Missense_Mutation	SNP	ENST00000527884.1	37	c.983T>C	CCDS7849.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.985053	0.74474	.	.	ENSG00000129173	ENST00000527884;ENST00000531809;ENST00000396159;ENST00000250024	T;T	0.49432	0.78;0.78	6.06	6.06	0.98353	Transcription factor E2F/dimerisation partner (TDP) (1);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.126941	0.53938	D	0.000043	T	0.77322	0.4113	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.83554	0.0103	10	0.87932	D	0	-20.5162	16.2708	0.82618	1.0:0.0:0.0:0.0	.	328	A0AVK6	E2F8_HUMAN	T	328	ENSP00000434199:I328T;ENSP00000250024:I328T	ENSP00000250024:I328T	I	-	2	0	E2F8	19210440	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.335000	0.96500	2.324000	0.78689	0.533000	0.62120	ATC		0.358	E2F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387830.1		NM_024680		31	21	0	0	0	0.003755	0	31	21		
CRY2	1408	broad.mit.edu	37	11	45891186	45891186	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr11:45891186C>T	ENST00000443527.2	+	7	1097	c.1075C>T	c.(1075-1077)Ccc>Tcc	p.P359S	CRY2_ENST00000417225.2_Missense_Mutation_p.P277S	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome circadian clock 2	338					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|glucose homeostasis (GO:0042593)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of phosphoprotein phosphatase activity (GO:0032515)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of sodium-dependent phosphate transport (GO:2000118)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|FAD binding (GO:0071949)|phosphatase binding (GO:0019902)|single-stranded DNA binding (GO:0003697)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|ubiquitin binding (GO:0043130)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						CATCCAGATCCCCTGGGACCG	0.587																																					Esophageal Squamous(106;91 1499 8126 12599 39610)	uc010rgn.1		NaN																	0				central_nervous_system(1)	1						c.(1075-1077)CCC>TCC		cryptochrome 2 (photolyase-like) isoform 1							107.0	103.0	104.0					11																	45891186		2203	4299	6502	SO:0001583	missense	1408				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding	g.chr11:45891186C>T	AB014558	CCDS7915.2, CCDS44576.1	11p11.2	2014-01-17	2014-01-17		ENSG00000121671	ENSG00000121671			2385	protein-coding gene	gene with protein product		603732	"""cryptochrome 2 (photolyase-like)"""			8909283	Standard	NM_021117		Approved		uc010rgn.2	Q49AN0	OTTHUMG00000153225	ENST00000443527.2:c.1075C>T	11.37:g.45891186C>T	ENSP00000406751:p.Pro359Ser					CRY2_uc009ykw.2_Missense_Mutation_p.P277S|CRY2_uc010rgo.1_Missense_Mutation_p.P81S	p.P359S	NM_021117	NP_066940	Q49AN0	CRY2_HUMAN			7	1097	+			338			FAD-binding.		B4DH32|B4DZD6|O75148|Q8IV71	Missense_Mutation	SNP	ENST00000443527.2	37	c.1075C>T	CCDS7915.2	.	.	.	.	.	.	.	.	.	.	C	31	5.067200	0.93898	.	.	ENSG00000121671	ENST00000417225;ENST00000443527	.	.	.	5.99	5.99	0.97316	DNA photolyase, FAD-binding/Cryptochrome, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.77980	0.4212	M	0.84156	2.68	0.80722	D	1	P;P;P	0.51791	0.948;0.948;0.8	P;P;P	0.53593	0.73;0.73;0.455	T	0.79546	-0.1759	9	0.62326	D	0.03	-28.3685	20.4777	0.99188	0.0:1.0:0.0:0.0	.	338;359;277	Q49AN0;B4DZD6;Q49AN0-2	CRY2_HUMAN;.;.	S	277;359	.	ENSP00000397419:P277S	P	+	1	0	CRY2	45847762	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.813000	0.86123	2.840000	0.97914	0.655000	0.94253	CCC		0.587	CRY2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330235.2		NM_021117		43	161	0	0	0	0.00361	0	43	161		
OR4A16	81327	broad.mit.edu	37	11	55111294	55111294	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr11:55111294G>A	ENST00000314721.2	+	1	668	c.618G>A	c.(616-618)atG>atA	p.M206I		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	206						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TAATTTGTATGGTCATCTTTA	0.438																																						uc010rie.1		NaN																	0				large_intestine(2)|pancreas(1)	3						c.(616-618)ATG>ATA		olfactory receptor, family 4, subfamily A,							234.0	211.0	219.0					11																	55111294		2201	4296	6497	SO:0001583	missense	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55111294G>A	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.618G>A	11.37:g.55111294G>A	ENSP00000325128:p.Met206Ile						p.M206I	NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN			1	618	+			206			Helical; Name=5; (Potential).		Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	c.618G>A	CCDS31499.1	.	.	.	.	.	.	.	.	.	.	g	0.005	-2.197078	0.00299	.	.	ENSG00000181961	ENST00000314721	T	0.34275	1.37	2.54	1.6	0.23607	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.15176	0.0366	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.15870	0.014	T	0.22836	-1.0205	9	0.20046	T	0.44	.	3.3554	0.07167	0.1657:0.2791:0.5552:0.0	.	206	Q8NH70	O4A16_HUMAN	I	206	ENSP00000325128:M206I	ENSP00000325128:M206I	M	+	3	0	OR4A16	54867870	0.000000	0.05858	0.054000	0.19295	0.003000	0.03518	-0.088000	0.11198	1.421000	0.47157	0.423000	0.28283	ATG		0.438	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1		NM_001005274		15	86	0	0	0	0.00245	0	15	86		
HRASLS5	117245	broad.mit.edu	37	11	63233662	63233662	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr11:63233662T>C	ENST00000301790.4	-	5	826	c.667A>G	c.(667-669)Atc>Gtc	p.I223V	HRASLS5_ENST00000540857.1_Missense_Mutation_p.I213V|HRASLS5_ENST00000539221.1_Missense_Mutation_p.I223V			Q96KN8	HRSL5_HUMAN	HRAS-like suppressor family, member 5	223							transferase activity, transferring acyl groups (GO:0016746)			endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						TACTGCACGATCTTGTTGACC	0.527																																						uc001nwy.2		NaN																	0				ovary(1)	1						c.(667-669)ATC>GTC		HRAS-like suppressor family, member 5 isoform 1							266.0	187.0	214.0					11																	63233662		2201	4298	6499	SO:0001583	missense	117245							g.chr11:63233662T>C	AJ416558	CCDS8044.1, CCDS53646.1, CCDS53647.1	11q13.2	2006-08-16			ENSG00000168004	ENSG00000168004			24978	protein-coding gene	gene with protein product		611474					Standard	NM_001146729		Approved	HRLP5	uc001nwy.2	Q96KN8	OTTHUMG00000167806	ENST00000301790.4:c.667A>G	11.37:g.63233662T>C	ENSP00000301790:p.Ile223Val					HRASLS5_uc001nwz.2_Missense_Mutation_p.I213V|HRASLS5_uc010rmq.1_Missense_Mutation_p.I223V|HRASLS5_uc009yos.2_RNA	p.I223V	NM_054108	NP_473449	Q96KN8	HRSL5_HUMAN			5	841	-			223					B7X6T1|F5GZ87|F5H4Y9	Missense_Mutation	SNP	ENST00000301790.4	37	c.667A>G	CCDS8044.1	.	.	.	.	.	.	.	.	.	.	T	2.709	-0.269204	0.05716	.	.	ENSG00000168004	ENST00000540857;ENST00000539221;ENST00000301790;ENST00000538712	T;T;T	0.21543	2.0;2.0;2.0	4.16	1.83	0.25207	NC (1);	0.890365	0.09723	N	0.764103	T	0.07773	0.0195	N	0.02539	-0.55	0.21652	N	0.999608	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.08055	0.002;0.003;0.002	T	0.38585	-0.9654	10	0.24483	T	0.36	-4.6354	5.8836	0.18868	0.0:0.2118:0.0:0.7882	.	223;213;223	F5GZ87;F5H4Y9;Q96KN8	.;.;HRSL5_HUMAN	V	213;223;223;5	ENSP00000444809:I213V;ENSP00000443873:I223V;ENSP00000301790:I223V	ENSP00000301790:I223V	I	-	1	0	HRASLS5	62990238	0.968000	0.33430	0.656000	0.29637	0.086000	0.17979	1.522000	0.35921	0.399000	0.25367	-0.274000	0.10170	ATC		0.527	HRASLS5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396375.1		NM_054108		17	46	0	0	0	0.006122	0	17	46		
PRDX5	25824	broad.mit.edu	37	11	64085714	64085714	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr11:64085714G>A	ENST00000265462.4	+	1	155	c.27G>A	c.(25-27)ctG>ctA	p.L9L	TRMT112_ENST00000535750.1_5'Flank|TRMT112_ENST00000308774.2_5'Flank|TRMT112_ENST00000539854.1_5'Flank|TRMT112_ENST00000544844.1_5'Flank|PRDX5_ENST00000352435.4_Silent_p.L9L|PRDX5_ENST00000347941.4_Silent_p.L9L|TRMT112_ENST00000535126.1_5'Flank	NM_012094.4	NP_036226	P30044	PRDX5_HUMAN	peroxiredoxin 5	9					cellular response to reactive oxygen species (GO:0034614)|hydrogen peroxide catabolic process (GO:0042744)|inflammatory response (GO:0006954)|NADPH oxidation (GO:0070995)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|positive regulation of collagen biosynthetic process (GO:0032967)|reactive nitrogen species metabolic process (GO:2001057)|regulation of apoptosis involved in tissue homeostasis (GO:0060785)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	antioxidant activity (GO:0016209)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|peroxidase activity (GO:0004601)|peroxiredoxin activity (GO:0051920)|peroxynitrite reductase activity (GO:0072541)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase III regulatory region DNA binding (GO:0001016)			breast(1)|kidney(1)|lung(1)|skin(1)	4					Auranofin(DB00995)	TGTGCGCCCTGAGACGCTCAG	0.701																																						uc001nzu.2		NaN																	0				breast(1)	1						c.(25-27)CTG>CTA		peroxiredoxin 5 isoform a precursor	Auranofin(DB00995)						35.0	36.0	36.0					11																	64085714		2200	4296	6496	SO:0001819	synonymous_variant	25824				cell redox homeostasis|cellular response to reactive oxygen species|inflammatory response|negative regulation of apoptosis	cytosolic part|mitochondrion|peroxisome	caspase inhibitor activity|peroxidase activity|peroxiredoxin activity	g.chr11:64085714G>A	AF197952	CCDS8069.1, CCDS8070.1, CCDS8071.1	11q13	2008-07-21			ENSG00000126432	ENSG00000126432			9355	protein-coding gene	gene with protein product	"""antioxidant enzyme B166"", ""thioredoxin peroxidase PMP20"", ""peroxisomal antioxidant enzyme"", ""TPx type VI"", ""liver tissue 2D-page spot 71B"", ""Alu co-repressor 1"""	606583				10514471, 10521424	Standard	NM_012094		Approved	ACR1, AOEB166, MGC142285, PRXV, PMP20, B166, PRDX6, PLP, SBBI10, MGC117264, MGC142283	uc001nzu.3	P30044	OTTHUMG00000168805	ENST00000265462.4:c.27G>A	11.37:g.64085714G>A						TRMT112_uc001nzt.2_5'Flank|PRDX5_uc001nzv.2_Silent_p.L9L|PRDX5_uc001nzw.2_Silent_p.L9L|PRDX5_uc001nzx.2_5'Flank	p.L9L	NM_012094	NP_036226	P30044	PRDX5_HUMAN			1	146	+			9					A6NC19|A6NG06|B7ZLJ4|B7ZVW3|Q14CK0|Q6IAF2|Q9UBU5|Q9UJU4|Q9UKX4	Silent	SNP	ENST00000265462.4	37	c.27G>A	CCDS8069.1																																																																																				0.701	PRDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401148.1		NM_181651		26	95	0	0	0	0.002445	0	26	95		
NRXN2	9379	broad.mit.edu	37	11	64480980	64480980	+	Silent	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr11:64480980C>A	ENST00000377551.1	-	1	403	c.192G>T	c.(190-192)gcG>gcT	p.A64A	NRXN2_ENST00000377559.3_Silent_p.A64A|NRXN2_ENST00000265459.6_Silent_p.A64A|NRXN2_ENST00000409571.1_Silent_p.A64A			Q9P2S2	NRX2A_HUMAN	neurexin 2	64	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						AGAGCAGCAGCGCGCGCGTGG	0.751																																						uc001oar.2		NaN																	0				upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)|ovary(2)|kidney(1)|pancreas(1)	10						c.(190-192)GCG>GCT		neurexin 2 isoform alpha-1 precursor							5.0	5.0	5.0					11																	64480980		1596	3281	4877	SO:0001819	synonymous_variant	9379				cell adhesion	integral to membrane		g.chr11:64480980C>A		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.192G>T	11.37:g.64480980C>A						NRXN2_uc001oas.2_Silent_p.A64A	p.A64A	NM_015080	NP_055895	P58401	NRX2B_HUMAN			3	631	-			130			Extracellular (Potential).|Laminin G-like.		A7E2C1|Q9Y2D6	Silent	SNP	ENST00000377551.1	37	c.192G>T	CCDS8077.1																																																																																				0.751	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3		NM_015080		13	5	1	0	2.35188e-11	0.006122	2.52239e-11	13	5		
AP5B1	91056	broad.mit.edu	37	11	65547232	65547232	+	Silent	SNP	T	T	A	rs369935368		TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr11:65547232T>A	ENST00000532090.2	-	2	942	c.732A>T	c.(730-732)gcA>gcT	p.A244A		NM_138368.4	NP_612377.4	Q2VPB7	AP5B1_HUMAN	adaptor-related protein complex 5, beta 1 subunit	244	Leu-rich.				endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-type membrane coat adaptor complex (GO:0030119)|lysosomal membrane (GO:0005765)				lung(1)	1						CCTCCTCAGCTGCCGGCCAGC	0.662																																						uc001ofo.3		NaN																	0					0						c.(559-561)GCA>GCT		hypothetical protein LOC91056							39.0	49.0	46.0					11																	65547232		2106	4199	6305	SO:0001819	synonymous_variant	91056						protein binding	g.chr11:65547232T>A	JQ313135	CCDS58146.1	11q13.1	2012-02-29			ENSG00000254470	ENSG00000254470			25104	protein-coding gene	gene with protein product		614367				22022230	Standard	NM_138368		Approved	PP1030, AP-5, DKFZp761E198	uc031qbm.1	Q2VPB7	OTTHUMG00000166593	ENST00000532090.2:c.732A>T	11.37:g.65547232T>A							p.A187A	NM_138368	NP_612377	Q2VPB7	YK046_HUMAN		READ - Rectum adenocarcinoma(159;0.167)	1	591	-			187			Leu-rich.		A1L0S6|H6WUK2|Q0D2Q2|Q8N3J7|Q8WYH6	Silent	SNP	ENST00000532090.2	37	c.561A>T	CCDS58146.1																																																																																				0.662	AP5B1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390636.2		NM_138368		141	115	0	0	0	0.00361	0	141	115		
B3GNT1	11041	broad.mit.edu	37	11	66114948	66114948	+	Silent	SNP	C	C	G	rs146812867	byFrequency	TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr11:66114948C>G	ENST00000311181.4	-	1	215	c.69G>C	c.(67-69)gcG>gcC	p.A23A	RP11-867G23.8_ENST00000531602.1_5'Flank|BRMS1_ENST00000425825.2_5'Flank|BRMS1_ENST00000359957.3_5'Flank	NM_006876.2	NP_006867.1	O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1	23					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|poly-N-acetyllactosamine biosynthetic process (GO:0030311)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity (GO:0008532)			breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						GCTGCAGCATCGCCACCAGCA	0.647																																						uc001ohr.2		NaN																	0					0						c.(67-69)GCG>GCC		UDP-GlcNAc:betaGal		C		0,4372		0,0,2186	14.0	18.0	16.0		69	-5.7	1.0	11	dbSNP_134	16	9,8541		0,9,4266	no	coding-synonymous	B3GNT1	NM_006876.2		0,9,6452	GG,GC,CC		0.1053,0.0,0.0696		23/416	66114948	9,12913	2186	4275	6461	SO:0001819	synonymous_variant	11041				poly-N-acetyllactosamine biosynthetic process	integral to Golgi membrane	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity	g.chr11:66114948C>G	AF029893	CCDS8136.1	11q13.2	2014-07-08	2006-04-12	2006-04-12	ENSG00000174684	ENSG00000174684	2.4.1.149	"""Beta 3-glycosyltransferases"""	15685	protein-coding gene	gene with protein product	"""N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase"""	605517	"""UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6"""	B3GNT6		9405606	Standard	NM_006876		Approved	iGNT, iGAT, iGnT, BETA3GNTI, B3GN-T1	uc001ohr.3	O43505	OTTHUMG00000167082	ENST00000311181.4:c.69G>C	11.37:g.66114948C>G						BRMS1_uc001ohp.1_5'Flank|BRMS1_uc001oho.1_5'Flank	p.A23A	NM_006876	NP_006867	O43505	B3GN1_HUMAN			1	214	-			23			Helical; Signal-anchor for type II membrane protein; (Potential).		Q4TTN0	Silent	SNP	ENST00000311181.4	37	c.69G>C	CCDS8136.1																																																																																				0.647	B3GNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392959.1		NM_006876		17	23	0	0	0	0.00499	0	17	23		
TCIRG1	10312	broad.mit.edu	37	11	67816717	67816717	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr11:67816717C>T	ENST00000265686.3	+	15	1951	c.1843C>T	c.(1843-1845)Ctc>Ttc	p.L615F	TCIRG1_ENST00000532635.1_Missense_Mutation_p.L399F|RP11-802E16.3_ENST00000526897.1_RNA|RP11-802E16.3_ENST00000529934.1_RNA	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	615					ATP hydrolysis coupled proton transport (GO:0015991)|cellular defense response (GO:0006968)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of cell proliferation (GO:0008284)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						CAACATGTTCCTCTTCTCCCA	0.657																																						uc001one.2		NaN																	0				ovary(1)	1						c.(1843-1845)CTC>TTC		T-cell, immune regulator 1 isoform a							79.0	76.0	77.0					11																	67816717		2199	4294	6493	SO:0001583	missense	10312				ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity	g.chr11:67816717C>T	AF025374	CCDS8177.1, CCDS53670.1	11q13.2	2014-09-17	2006-01-20		ENSG00000110719	ENSG00000110719		"""ATPases / V-type"""	11647	protein-coding gene	gene with protein product	"""T-cell immune response cDNA 7"""	604592	"""T-cell, immune regulator 1"", ""T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3"", ""T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3"""			8579597, 9806637	Standard	NM_006019		Approved	TIRC7, OC-116, OC116, ATP6N1C, Atp6i, a3, ATP6V0A3	uc001one.3	Q13488	OTTHUMG00000167358	ENST00000265686.3:c.1843C>T	11.37:g.67816717C>T	ENSP00000265686:p.Leu615Phe					TCIRG1_uc001ong.2_Missense_Mutation_p.L399F|TCIRG1_uc001onh.2_Missense_Mutation_p.L317F|TCIRG1_uc001oni.2_Missense_Mutation_p.L119F|TCIRG1_uc009ysd.2_5'Flank	p.L615F	NM_006019	NP_006010	Q13488	VPP3_HUMAN			15	1951	+			615			Helical; (Potential).		O75877|Q8WVC5	Missense_Mutation	SNP	ENST00000265686.3	37	c.1843C>T	CCDS8177.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.437519	0.83885	.	.	ENSG00000110719	ENST00000265686;ENST00000532635	D;D	0.88896	-2.44;-2.44	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	D	0.95478	0.8531	M	0.91354	3.2	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96480	0.9355	10	0.87932	D	0	-42.8795	16.0297	0.80570	0.0:1.0:0.0:0.0	.	615	Q13488	VPP3_HUMAN	F	615;399	ENSP00000265686:L615F;ENSP00000434407:L399F	ENSP00000265686:L615F	L	+	1	0	TCIRG1	67573293	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	4.764000	0.62264	2.350000	0.79820	0.555000	0.69702	CTC		0.657	TCIRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394305.1		NM_006019		51	175	0	0	0	0.00361	0	51	175		
LRP5	4041	broad.mit.edu	37	11	68207303	68207303	+	Silent	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr11:68207303G>T	ENST00000294304.7	+	21	4513	c.4407G>T	c.(4405-4407)ggG>ggT	p.G1469G		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1469					adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|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 transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCCGGGGCGGGGTGCCCCTCT	0.706																																						uc001ont.2		NaN																	0				lung(2)|skin(2)|ovary(1)|pancreas(1)|breast(1)	7						c.(4405-4407)GGG>GGT		low density lipoprotein receptor-related protein							15.0	18.0	17.0					11																	68207303		2193	4289	6482	SO:0001819	synonymous_variant	4041				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity	g.chr11:68207303G>T	AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.4407G>T	11.37:g.68207303G>T						LRP5_uc009ysg.2_Silent_p.G879G	p.G1469G	NM_002335	NP_002326	O75197	LRP5_HUMAN			21	4482	+			1469			Cytoplasmic (Potential).		Q96TD6|Q9UES7|Q9UP66	Silent	SNP	ENST00000294304.7	37	c.4407G>T	CCDS8181.1																																																																																				0.706	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395088.1		NM_002335		28	28	1	0	9.45814e-24	0.004878	1.05391e-23	28	28		
MYO7A	4647	broad.mit.edu	37	11	76915135	76915135	+	Missense_Mutation	SNP	A	A	G	rs370585017		TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr11:76915135A>G	ENST00000409709.3	+	39	5613	c.5341A>G	c.(5341-5343)Atg>Gtg	p.M1781V	MYO7A_ENST00000605744.1_3'UTR|MYO7A_ENST00000409619.2_Missense_Mutation_p.M1732V|MYO7A_ENST00000458637.2_Missense_Mutation_p.M1743V	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1781	MyTH4 2. {ECO:0000255|PROSITE- ProRule:PRU00359}.				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						GCTCAAGTACATGGGCGACTA	0.617																																						uc001oyb.2		NaN																	0				ovary(3)|breast(1)	4						c.(5341-5343)ATG>GTG		myosin VIIA isoform 1							44.0	46.0	45.0					11																	76915135		2100	4192	6292	SO:0001583	missense	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76915135A>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.5341A>G	11.37:g.76915135A>G	ENSP00000386331:p.Met1781Val					MYO7A_uc001oyc.2_Missense_Mutation_p.M1743V|MYO7A_uc001oye.2_RNA	p.M1781V	NM_000260	NP_000251	Q13402	MYO7A_HUMAN			39	5613	+			1781			MyTH4 2.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	c.5341A>G	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	A	17.66	3.444955	0.63178	.	.	ENSG00000137474	ENST00000409709;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000458169;ENST00000544424	D;D;D;D	0.91295	-2.82;-2.81;-2.82;-2.78	4.84	4.84	0.62591	MyTH4 domain (2);	0.083952	0.85682	D	0.000000	D	0.95850	0.8649	H	0.96080	3.765	0.80722	D	1	P;B	0.41393	0.748;0.026	P;B	0.52109	0.69;0.06	D	0.96877	0.9643	10	0.72032	D	0.01	.	14.3976	0.67022	1.0:0.0:0.0:0.0	.	1743;1781	F8VUN5;Q13402	.;MYO7A_HUMAN	V	1781;1743;1732;954;1780;1750;1657;923;396	ENSP00000386331:M1781V;ENSP00000392185:M1743V;ENSP00000386635:M1732V;ENSP00000417017:M923V	ENSP00000345075:M1657V	M	+	1	0	MYO7A	76592783	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	8.845000	0.92153	1.800000	0.52685	0.402000	0.26972	ATG		0.617	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1		NM_000260		4	13	0	0	0	0.000602	0	4	13		
KMT2A	4297	broad.mit.edu	37	11	118368671	118368671	+	Nonsense_Mutation	SNP	T	T	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08			T	G	T	T		Valid	Somatic	Phase_I	WXS	Fluidigm;WGS			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr11:118368671T>G	ENST00000389506.5	+	21	5676	c.5676T>G	c.(5674-5676)taT>taG	p.Y1892*	KMT2A_ENST00000534358.1_Nonsense_Mutation_p.Y1895*|KMT2A_ENST00000354520.4_Nonsense_Mutation_p.Y1854*			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1892					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										GTTTACTATATATTGGCCAAA	0.378																																						uc001pta.2		NaN								T|O					MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB		AML|ALL		0				lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1)	25						c.(5674-5676)TAT>TAG		myeloid/lymphoid or mixed-lineage leukemia							141.0	136.0	138.0					11																	118368671		2200	4296	6496	SO:0001587	stop_gained	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118368671T>G	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.5676T>G	11.37:g.118368671T>G	ENSP00000374157:p.Tyr1892*					MLL_uc001ptb.2_Nonsense_Mutation_p.Y1895*	p.Y1892*	NM_005933	NP_005924	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	21	5699	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	1892					E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Nonsense_Mutation	SNP	ENST00000389506.5	37	c.5676T>G	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	T	45	11.408458	0.99557	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	.	.	.	5.17	3.26	0.37387	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.4559	0.32899	0.0:0.7241:0.0:0.2759	.	.	.	.	X	1895;1892;1854;802	.	ENSP00000346516:Y1854X	Y	+	3	2	MLL	117873881	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	1.163000	0.31798	0.624000	0.30286	-0.242000	0.12053	TAT		0.378	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2		NM_005933		13	27	0	0	0	0.003163	0	13	27		
HSPA8	3312	broad.mit.edu	37	11	122929417	122929417	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr11:122929417G>A	ENST00000532636.1	-	7	1564	c.1445C>T	c.(1444-1446)gCc>gTc	p.A482V	HSPA8_ENST00000533540.1_Missense_Mutation_p.A336V|SNORD14E_ENST00000364009.1_RNA|HSPA8_ENST00000526110.1_Missense_Mutation_p.A463V|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000227378.3_Missense_Mutation_p.A482V|HSPA8_ENST00000534624.1_Missense_Mutation_p.A482V|HSPA8_ENST00000453788.2_Intron|HSPA8_ENST00000526862.1_5'Flank|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000534319.1_Missense_Mutation_p.A246V			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	482					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TATACCATTGGCATCAATGTC	0.448																																					Colon(21;486 594 5900 6733 14272)	uc001pyo.2		NaN																	0				central_nervous_system(7)|lung(1)	8						c.(1444-1446)GCC>GTC		heat shock 70kDa protein 8 isoform 1							140.0	130.0	133.0					11																	122929417		2202	4299	6501	SO:0001583	missense	3312				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding	g.chr11:122929417G>A	Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"""Heat shock proteins / HSP70"""	5241	protein-coding gene	gene with protein product		600816	"""heat shock 70kD protein 8"""	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.1445C>T	11.37:g.122929417G>A	ENSP00000437125:p.Ala482Val					HSPA8_uc009zbc.2_Missense_Mutation_p.A246V|HSPA8_uc001pyp.2_Intron|HSPA8_uc010rzu.1_Missense_Mutation_p.A405V	p.A482V	NM_006597	NP_006588	P11142	HSP7C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	7	1523	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	482					Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	37	c.1445C>T	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.118797	0.77323	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000227378;ENST00000534319;ENST00000526110;ENST00000524552;ENST00000526686	T;T;T;T;T;T;T;T	0.01178	5.22;5.22;5.22;5.22;5.22;5.22;5.22;5.22	4.45	4.45	0.53987	.	0.061431	0.64402	D	0.000009	T	0.02970	0.0088	M	0.76838	2.35	0.80722	D	1	B;B	0.18166	0.026;0.026	B;B	0.20767	0.031;0.031	T	0.39143	-0.9628	10	0.87932	D	0	-18.3636	17.4636	0.87626	0.0:0.0:1.0:0.0	.	482;482	Q53GZ6;P11142	.;HSP7C_HUMAN	V	482;336;482;482;246;463;73;34	ENSP00000437125:A482V;ENSP00000437189:A336V;ENSP00000432083:A482V;ENSP00000227378:A482V;ENSP00000433316:A246V;ENSP00000433584:A463V;ENSP00000435908:A73V;ENSP00000435019:A34V	ENSP00000227378:A482V	A	-	2	0	HSPA8	122434627	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	9.833000	0.99426	2.167000	0.68274	0.561000	0.74099	GCC		0.448	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1				29	35	0	0	0	0.009535	0	29	35		
WNK1	65125	broad.mit.edu	37	12	989117	989117	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:989117G>T	ENST00000315939.6	+	11	3395	c.2752G>T	c.(2752-2754)Gca>Tca	p.A918S	WNK1_ENST00000530271.2_Missense_Mutation_p.A1416S|WNK1_ENST00000537687.1_Intron|WNK1_ENST00000340908.4_Missense_Mutation_p.A511S|WNK1_ENST00000535572.1_Intron	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	918					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CCTACAACCAGCAGTTCAGTC	0.512																																					Colon(19;451 567 6672 12618 28860)	uc001qio.3		NaN																	0				stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23						c.(2752-2754)GCA>TCA		WNK lysine deficient protein kinase 1							118.0	104.0	109.0					12																	989117		2203	4300	6503	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:989117G>T	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.2752G>T	12.37:g.989117G>T	ENSP00000313059:p.Ala918Ser					WNK1_uc001qip.3_Intron|WNK1_uc001qir.3_Intron	p.A918S	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		11	3259	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		918					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.2752G>T	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.280591	0.23392	.	.	ENSG00000060237	ENST00000315939;ENST00000530271;ENST00000340908;ENST00000535698	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	5.1	3.24	0.37175	.	0.310296	0.27577	N	0.018749	T	0.08670	0.0215	L	0.27053	0.805	0.26162	N	0.979984	B	0.10296	0.003	B	0.06405	0.002	T	0.38436	-0.9661	10	0.07482	T	0.82	-5.8702	5.1545	0.15027	0.0739:0.1248:0.5449:0.2564	.	918	Q9H4A3	WNK1_HUMAN	S	918;1416;511;188	ENSP00000313059:A918S;ENSP00000433548:A1416S;ENSP00000341292:A511S;ENSP00000439552:A188S	ENSP00000313059:A918S	A	+	1	0	WNK1	859378	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	2.019000	0.41001	0.695000	0.31675	-0.319000	0.08680	GCA		0.512	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1		NM_018979		39	41	1	0	3.86236e-30	0.00361	4.3604e-30	39	41		
WNK1	65125	broad.mit.edu	37	12	994164	994164	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:994164C>T	ENST00000315939.6	+	19	4837	c.4194C>T	c.(4192-4194)ctC>ctT	p.L1398L	WNK1_ENST00000530271.2_Silent_p.L1896L|WNK1_ENST00000537687.1_Silent_p.L1658L|WNK1_ENST00000340908.4_Silent_p.L991L|WNK1_ENST00000535572.1_Silent_p.L1151L	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1398					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CAGGTGGTCTCCCCATACCAC	0.478																																					Colon(19;451 567 6672 12618 28860)	uc001qio.3		NaN																	0				stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23						c.(4192-4194)CTC>CTT		WNK lysine deficient protein kinase 1							139.0	137.0	138.0					12																	994164		2203	4300	6503	SO:0001819	synonymous_variant	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:994164C>T	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.4194C>T	12.37:g.994164C>T						WNK1_uc001qip.3_Silent_p.L1151L|WNK1_uc001qir.3_Silent_p.L571L	p.L1398L	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		19	4701	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		1398					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Silent	SNP	ENST00000315939.6	37	c.4194C>T	CCDS8506.1																																																																																				0.478	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1		NM_018979		34	34	0	0	0	0.004878	0	34	34		
SCNN1A	6337	broad.mit.edu	37	12	6471317	6471317	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:6471317T>C	ENST00000228916.2	-	4	873	c.775A>G	c.(775-777)Atc>Gtc	p.I259V	SCNN1A_ENST00000540037.1_5'UTR|SCNN1A_ENST00000538979.1_Intron|SCNN1A_ENST00000360168.3_Missense_Mutation_p.I318V|SCNN1A_ENST00000396966.2_Missense_Mutation_p.I259V|SCNN1A_ENST00000543768.1_Missense_Mutation_p.I282V|SCNN1A_ENST00000358945.3_Missense_Mutation_p.I259V	NM_001038.5	NP_001029.1	P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	259					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ciliary membrane (GO:0060170)|cortical actin cytoskeleton (GO:0030864)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	CTCGACAGGATGTTGATGTAG	0.572																																						uc001qnx.2		NaN																	0					0						c.(775-777)ATC>GTC		sodium channel, nonvoltage-gated 1 alpha isoform	Amiloride(DB00594)|Triamterene(DB00384)						162.0	124.0	137.0					12																	6471317		2203	4300	6503	SO:0001583	missense	6337				excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding	g.chr12:6471317T>C	Z92978	CCDS8543.1, CCDS53738.1, CCDS53739.1	12p13	2012-02-28	2012-02-28		ENSG00000111319	ENSG00000111319		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10599	protein-coding gene	gene with protein product		600228	"""sodium channel, nonvoltage-gated 1 alpha"", ""sodium channel, non-voltage-gated 1 alpha"""	SCNN1		7896277	Standard	NM_001038		Approved	ENaCalpha	uc001qnw.3	P37088	OTTHUMG00000168268	ENST00000228916.2:c.775A>G	12.37:g.6471317T>C	ENSP00000228916:p.Ile259Val					SCNN1A_uc001qnv.2_5'UTR|SCNN1A_uc001qnw.2_Missense_Mutation_p.I318V|SCNN1A_uc010sfb.1_Missense_Mutation_p.I282V	p.I259V	NM_001038	NP_001029	P37088	SCNNA_HUMAN			4	1064	-			259			Extracellular (By similarity).		A5X2U9|B4E2Q5|C5HTZ0|O43271|Q6GSQ6|Q9UM64	Missense_Mutation	SNP	ENST00000228916.2	37	c.775A>G	CCDS8543.1	.	.	.	.	.	.	.	.	.	.	T	19.51	3.842060	0.71488	.	.	ENSG00000111319	ENST00000360168;ENST00000358945;ENST00000228916;ENST00000396966;ENST00000543768	T;T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07;-0.07	5.05	5.05	0.67936	.	0.164006	0.41294	D	0.000910	T	0.79052	0.4381	M	0.89534	3.04	0.45087	D	0.998105	P;P;D	0.58268	0.847;0.847;0.982	P;P;P	0.57846	0.723;0.723;0.828	D	0.83699	0.0181	10	0.72032	D	0.01	-9.1412	12.7534	0.57320	0.0:0.0:0.0:1.0	.	282;259;318	B4E2Q5;P37088;P37088-2	.;SCNNA_HUMAN;.	V	318;259;259;259;282	ENSP00000353292:I318V;ENSP00000351825:I259V;ENSP00000228916:I259V;ENSP00000380166:I259V;ENSP00000438739:I282V	ENSP00000228916:I259V	I	-	1	0	SCNN1A	6341578	1.000000	0.71417	0.999000	0.59377	0.796000	0.44982	5.872000	0.69636	1.892000	0.54788	0.459000	0.35465	ATC		0.572	SCNN1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399055.1				29	91	0	0	0	0.002096	0	29	91		
NECAP1	25977	broad.mit.edu	37	12	8245362	8245362	+	Silent	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:8245362C>G	ENST00000339754.5	+	5	552	c.474C>G	c.(472-474)acC>acG	p.T158T		NM_015509.3	NP_056324.2	Q8NC96	NECP1_HUMAN	NECAP endocytosis associated 1	158					endocytosis (GO:0006897)|protein transport (GO:0015031)	clathrin vesicle coat (GO:0030125)|coated pit (GO:0005905)|plasma membrane (GO:0005886)				cervix(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				Kidney(36;0.0915)		AAGGACAAACCATCAAGTTGT	0.403																																						uc001qtx.2		NaN																	0				ovary(1)	1						c.(472-474)ACC>ACG		NECAP endocytosis associated 1							73.0	75.0	74.0					12																	8245362		2203	4300	6503	SO:0001819	synonymous_variant	25977				endocytosis|protein transport	clathrin coated vesicle membrane|plasma membrane		g.chr12:8245362C>G	AK074923	CCDS8589.1	12p13.31	2012-05-02			ENSG00000089818	ENSG00000089818			24539	protein-coding gene	gene with protein product		611623				14555962, 15494011	Standard	NM_015509		Approved	DKFZP566B183	uc001qtx.2	Q8NC96	OTTHUMG00000168568	ENST00000339754.5:c.474C>G	12.37:g.8245362C>G						NECAP1_uc001qty.2_Silent_p.T16T	p.T158T	NM_015509	NP_056324	Q8NC96	NECP1_HUMAN		Kidney(36;0.0915)	5	552	+			158					Q2NL73|Q5XG95|Q6NWY6|Q8N153|Q8NCB0|Q9BU52|Q9Y407	Silent	SNP	ENST00000339754.5	37	c.474C>G	CCDS8589.1																																																																																				0.403	NECAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400244.1		NM_015509		9	13	0	0	0	0.001368	0	9	13		
KIF21A	55605	broad.mit.edu	37	12	39763563	39763563	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:39763563G>T	ENST00000361418.5	-	3	433	c.418C>A	c.(418-420)Cca>Aca	p.P140T	KIF21A_ENST00000541463.2_Missense_Mutation_p.P140T|KIF21A_ENST00000395670.3_Missense_Mutation_p.P140T|KIF21A_ENST00000544797.2_Missense_Mutation_p.P140T|KIF21A_ENST00000361961.3_Missense_Mutation_p.P140T			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	140	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TTAAAATCTGGAGCAGGAAGC	0.299																																						uc001rly.2		NaN																	0				ovary(4)|pancreas(1)|lung(1)|skin(1)	7						c.(418-420)CCA>ACA		kinesin family member 21A							68.0	67.0	67.0					12																	39763563		2202	4299	6501	SO:0001583	missense	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39763563G>T	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.418C>A	12.37:g.39763563G>T	ENSP00000354878:p.Pro140Thr					KIF21A_uc001rlx.2_Missense_Mutation_p.P140T|KIF21A_uc001rlz.2_Missense_Mutation_p.P140T|KIF21A_uc010skl.1_Missense_Mutation_p.P140T|KIF21A_uc001rma.1_Missense_Mutation_p.P140T	p.P140T	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN			3	564	-		Lung NSC(34;0.179)|all_lung(34;0.213)	140			Kinesin-motor.		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	c.418C>A	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.250134	0.80024	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463	T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58	5.19	5.19	0.71726	Kinesin, motor domain (4);	0.000000	0.48767	D	0.000175	T	0.75347	0.3837	N	0.20685	0.6	0.80722	D	1	D;P;B;P;B	0.56968	0.978;0.643;0.202;0.928;0.096	D;B;B;P;B	0.68483	0.958;0.305;0.421;0.744;0.139	T	0.79217	-0.1894	10	0.72032	D	0.01	.	19.1033	0.93282	0.0:0.0:1.0:0.0	.	140;140;140;140;140	F5H219;B9EGE4;F5H0C3;Q7Z4S6;Q7Z4S6-2	.;.;.;KI21A_HUMAN;.	T	140	ENSP00000354851:P140T;ENSP00000379029:P140T;ENSP00000445606:P140T;ENSP00000354878:P140T;ENSP00000438075:P140T	ENSP00000344501:P140T	P	-	1	0	KIF21A	38049830	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.063000	0.76714	2.587000	0.87381	0.557000	0.71058	CCA		0.299	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1		NM_017641		4	8	1	0	2.56e-06	0.009096	2.64e-06	4	8		
NELL2	4753	broad.mit.edu	37	12	44917077	44917077	+	Silent	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:44917077A>G	ENST00000429094.2	-	17	2499	c.1995T>C	c.(1993-1995)tgT>tgC	p.C665C	NELL2_ENST00000551601.1_Silent_p.C617C|NELL2_ENST00000549027.1_Silent_p.C664C|NELL2_ENST00000395487.2_Silent_p.C664C|NELL2_ENST00000437801.2_Silent_p.C715C|NELL2_ENST00000333837.4_Silent_p.C688C|NELL2_ENST00000452445.2_Silent_p.C665C	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	665	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TACCAACCTGACATGAGCACA	0.358																																						uc001rog.2		NaN																	0				skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						c.(1993-1995)TGT>TGC		NEL-like protein 2 isoform b precursor							137.0	133.0	134.0					12																	44917077		2203	4300	6503	SO:0001819	synonymous_variant	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:44917077A>G	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.1995T>C	12.37:g.44917077A>G						NELL2_uc001rof.3_Silent_p.C664C|NELL2_uc001roh.2_Silent_p.C665C|NELL2_uc009zkd.2_Silent_p.C617C|NELL2_uc010skz.1_Silent_p.C715C|NELL2_uc010sla.1_Silent_p.C688C|NELL2_uc001roi.1_Silent_p.C665C	p.C665C	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	17	2590	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	665			VWFC 3.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	ENST00000429094.2	37	c.1995T>C	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	A	9.924	1.212902	0.22289	.	.	ENSG00000184613	ENST00000550139	.	.	.	5.82	-1.32	0.09201	.	.	.	.	.	T	0.63546	0.2520	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59156	-0.7507	4	.	.	.	-11.4568	12.8372	0.57780	0.4476:0.0:0.5524:0.0	.	.	.	.	P	78	.	.	S	-	1	0	NELL2	43203344	1.000000	0.71417	0.936000	0.37596	0.954000	0.61252	1.466000	0.35310	-0.470000	0.06901	0.523000	0.50628	TCA		0.358	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1		NM_006159		35	65	0	0	0	0.004289	0	35	65		
ARID2	196528	broad.mit.edu	37	12	46287258	46287258	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:46287258A>T	ENST00000334344.6	+	19	5375	c.5203A>T	c.(5203-5205)Aat>Tat	p.N1735Y	ARID2_ENST00000444670.1_Missense_Mutation_p.N1345Y|ARID2_ENST00000422737.1_Missense_Mutation_p.N1586Y|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000457135.1_Missense_Mutation_p.N343Y	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1735					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GGCCATTGTGAATCATCCCAG	0.443			"""N, S, F"""		hepatocellular carcinoma																																	uc001ros.1		NaN		Rec	yes		12	12q12	196528		AT rich interactive domain 2			E					0				ovary(6)|skin(3)|upper_aerodigestive_tract(1)	10						c.(5203-5205)AAT>TAT		AT rich interactive domain 2 (ARID, RFX-like)							105.0	92.0	96.0					12																	46287258		2203	4300	6503	SO:0001583	missense	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46287258A>T		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.5203A>T	12.37:g.46287258A>T	ENSP00000335044:p.Asn1735Tyr					ARID2_uc001ror.2_Missense_Mutation_p.N1735Y|ARID2_uc009zkg.1_Missense_Mutation_p.N1191Y|ARID2_uc009zkh.1_Missense_Mutation_p.N1362Y|ARID2_uc001rou.1_Missense_Mutation_p.N1069Y	p.N1735Y	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	19	5203	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1735					Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	ENST00000334344.6	37	c.5203A>T	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	A	16.94	3.260630	0.59431	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670;ENST00000457135	T	0.32753	1.44	5.4	5.4	0.78164	.	0.044756	0.85682	D	0.000000	T	0.37348	0.1000	L	0.35593	1.075	0.58432	D	0.999992	P;P;P	0.48589	0.912;0.912;0.661	P;P;B	0.54759	0.654;0.76;0.165	T	0.04767	-1.0928	10	0.25751	T	0.34	-6.1421	15.4162	0.74970	1.0:0.0:0.0:0.0	.	1735;1345;1735	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	Y	1735;852;852;1586;1345;343	ENSP00000335044:N1735Y	ENSP00000335044:N1735Y	N	+	1	0	ARID2	44573525	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.264000	0.89866	2.051000	0.60960	0.482000	0.46254	AAT		0.443	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2		XM_350875		3	20	0	0	0	0.009096	0	3	20		
DHH	50846	broad.mit.edu	37	12	49488197	49488197	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:49488197G>A	ENST00000266991.2	-	1	405	c.99C>T	c.(97-99)cgC>cgT	p.R33R	RP11-386G11.8_ENST00000548030.1_RNA|RP11-386G11.8_ENST00000553174.1_RNA	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	33					cell-cell signaling (GO:0007267)|Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|myelination (GO:0042552)|regulation of steroid biosynthetic process (GO:0050810)|response to estradiol (GO:0032355)|spermatid development (GO:0007286)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|lung(4)	8						GCGCATAGCGGCGCCGGCCAA	0.706																																						uc001rtf.2		NaN																	0				lung(1)|breast(1)	2						c.(97-99)CGC>CGT		desert hedgehog preproprotein																																				SO:0001819	synonymous_variant	50846				cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding	g.chr12:49488197G>A	AB010994	CCDS8779.1	12q13.1	2010-06-24	2010-06-24			ENSG00000139549			2865	protein-coding gene	gene with protein product		605423	"""desert hedgehog (Drosophila) homolog"""			10773676, 10640830	Standard	NM_021044		Approved	HHG-3, MGC35145	uc001rtf.3	O43323	OTTHUMG00000170408	ENST00000266991.2:c.99C>T	12.37:g.49488197G>A							p.R33R	NM_021044	NP_066382	O43323	DHH_HUMAN			1	406	-			33					Q15794	Silent	SNP	ENST00000266991.2	37	c.99C>T	CCDS8779.1																																																																																				0.706	DHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408973.1		NM_021044		11	26	0	0	0	0.000978	0	11	26		
ZNF385A	25946	broad.mit.edu	37	12	54765302	54765302	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:54765302T>C	ENST00000338010.5	-	5	672	c.619A>G	c.(619-621)Aag>Gag	p.K207E	ZNF385A_ENST00000551771.1_Intron|ZNF385A_ENST00000552382.1_5'UTR|ZNF385A_ENST00000352268.6_Intron|ZNF385A_ENST00000394313.2_Missense_Mutation_p.K187E|RP11-753H16.5_ENST00000552785.1_RNA|ZNF385A_ENST00000551109.1_Missense_Mutation_p.K187E|RP11-753H16.3_ENST00000550474.1_RNA|ZNF385A_ENST00000546970.1_Missense_Mutation_p.K187E	NM_001130967.1	NP_001124439.1	Q96PM9	Z385A_HUMAN	zinc finger protein 385A	207	Necessary for binding to ITPR1, CEBPA and p53/TP53 mRNAs. {ECO:0000250}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|hemostasis (GO:0007599)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|megakaryocyte development (GO:0035855)|mRNA localization resulting in posttranscriptional regulation of gene expression (GO:0010609)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)|positive regulation of DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:1902164)|positive regulation of fat cell differentiation (GO:0045600)|regulation of cytoplasmic translation (GO:2000765)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA 3'-UTR binding (GO:0003730)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1)	15						ACAGCCACCTTGCACAGAGCA	0.612																																						uc001sfw.1		NaN																	0				ovary(1)	1						c.(559-561)AAG>GAG		zinc finger protein 385A isoform c							114.0	108.0	110.0					12																	54765302		2203	4300	6503	SO:0001583	missense	25946				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding	g.chr12:54765302T>C	AF304052	CCDS8879.1, CCDS44910.1, CCDS44911.1	12q13.13	2012-10-05	2007-12-06	2007-12-06		ENSG00000161642			17521	protein-coding gene	gene with protein product		609124	"""zinc finger protein 385"""	ZNF385			Standard	XM_005268785		Approved	DKFZp586G1122, Hzf, ZFP385	uc001sfy.3	Q96PM9	OTTHUMG00000169840	ENST00000338010.5:c.619A>G	12.37:g.54765302T>C	ENSP00000338927:p.Lys207Glu					ZNF385A_uc001sfv.1_Missense_Mutation_p.K168E|ZNF385A_uc009zno.1_RNA|ZNF385A_uc010sov.1_Intron|ZNF385A_uc001sfx.1_Missense_Mutation_p.K187E|ZNF385A_uc001sfy.3_Missense_Mutation_p.K207E|ZNF385A_uc001sfz.3_Intron	p.K187E	NM_015481	NP_056296	Q96PM9	Z385A_HUMAN			4	742	-			187			Matrin-type 2.		B2RDN5|B4DKH2|F1T0F1|J3KNS3|Q5VH53|Q9H7R6|Q9UFU3	Missense_Mutation	SNP	ENST00000338010.5	37	c.559A>G	CCDS44911.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.034806	0.75617	.	.	ENSG00000161642	ENST00000551109;ENST00000394313;ENST00000338010;ENST00000546970;ENST00000546919;ENST00000549937;ENST00000549962	T;T;T;T;T;T;T	0.45668	1.89;1.89;1.89;1.89;1.89;1.89;0.89	3.07	3.07	0.35406	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	T	0.60650	0.2285	M	0.80746	2.51	0.80722	D	1	D;D;D	0.76494	0.999;0.997;0.997	D;D;D	0.83275	0.996;0.994;0.994	T	0.59841	-0.7378	10	0.29301	T	0.29	-7.8769	9.5427	0.39262	0.0:0.0:0.0:1.0	.	187;187;187	F8VRY0;Q96PM9;F1T0F1	.;Z385A_HUMAN;.	E	187;187;207;187;187;215;170	ENSP00000449161:K187E;ENSP00000377849:K187E;ENSP00000338927:K207E;ENSP00000446913:K187E;ENSP00000448466:K187E;ENSP00000448567:K215E;ENSP00000450149:K170E	ENSP00000338927:K207E	K	-	1	0	ZNF385A	53051569	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.504000	0.81646	1.404000	0.46819	0.374000	0.22700	AAG		0.612	ZNF385A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406162.1		NM_015481		96	83	0	0	0	0.00361	0	96	83		
ZC3H10	84872	broad.mit.edu	37	12	56515604	56515604	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:56515604T>C	ENST00000257940.2	+	3	1534	c.1258T>C	c.(1258-1260)Tac>Cac	p.Y420H	RP11-603J24.5_ENST00000549438.1_RNA|RP11-603J24.6_ENST00000550840.1_RNA|RP11-603J24.5_ENST00000550947.1_RNA	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	420							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			CATGGTGACTTACCCTATCGC	0.602																																						uc001sjp.1		NaN																	0					0						c.(1258-1260)TAC>CAC		zinc finger CCCH-type containing 10							97.0	74.0	82.0					12																	56515604		2203	4300	6503	SO:0001583	missense	84872						nucleic acid binding|zinc ion binding	g.chr12:56515604T>C	BC018708	CCDS8903.1	12q13.2	2012-07-05	2005-06-02	2005-06-02		ENSG00000135482		"""Zinc fingers, CCCH-type domain containing"""	25893	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 10"""	ZC3HDC10		12477932	Standard	NM_032786		Approved	FLJ14451	uc001sjp.1	Q96K80		ENST00000257940.2:c.1258T>C	12.37:g.56515604T>C	ENSP00000257940:p.Tyr420His						p.Y420H	NM_032786	NP_116175	Q96K80	ZC3HA_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.12)		3	1447	+			420						Missense_Mutation	SNP	ENST00000257940.2	37	c.1258T>C	CCDS8903.1	.	.	.	.	.	.	.	.	.	.	T	17.49	3.403146	0.62288	.	.	ENSG00000135482	ENST00000257940	.	.	.	5.73	4.52	0.55395	.	0.000000	0.64402	D	0.000001	T	0.50633	0.1627	N	0.19112	0.55	0.80722	D	1	D	0.61080	0.989	P	0.56278	0.795	T	0.56068	-0.8040	9	0.87932	D	0	-4.1128	11.9742	0.53081	0.0:0.0:0.1446:0.8554	.	420	Q96K80	ZC3HA_HUMAN	H	420	.	ENSP00000257940:Y420H	Y	+	1	0	ZC3H10	54801871	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.824000	0.69279	2.324000	0.78689	0.533000	0.62120	TAC		0.602	ZC3H10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407826.1		NM_032786		45	31	0	0	0	0.00361	0	45	31		
LRP1	4035	broad.mit.edu	37	12	57572754	57572754	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:57572754G>T	ENST00000243077.3	+	28	5154	c.4688G>T	c.(4687-4689)tGc>tTc	p.C1563F		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1563	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACCGTGTCCTGCGCCTGCCCC	0.632																																						uc001snd.2		NaN																	0				ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(4687-4689)TGC>TTC		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						116.0	109.0	111.0					12																	57572754		2203	4300	6503	SO:0001583	missense	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57572754G>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.4688G>T	12.37:g.57572754G>T	ENSP00000243077:p.Cys1563Phe						p.C1563F	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	28	5154	+			1563			EGF-like 7.|Extracellular (Potential).		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	ENST00000243077.3	37	c.4688G>T	CCDS8932.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.610539	0.66558	.	.	ENSG00000123384	ENST00000243077	D	0.90563	-2.69	4.44	4.44	0.53790	Epidermal growth factor-like (1);	0.000000	0.64402	D	0.000001	D	0.97250	0.9101	H	0.98370	4.215	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	D	0.98623	1.0668	10	0.72032	D	0.01	.	16.351	0.83208	0.0:0.0:1.0:0.0	.	1563	Q07954	LRP1_HUMAN	F	1563	ENSP00000243077:C1563F	ENSP00000243077:C1563F	C	+	2	0	LRP1	55859021	1.000000	0.71417	0.975000	0.42487	0.989000	0.77384	9.519000	0.98025	2.466000	0.83321	0.655000	0.94253	TGC		0.632	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2		NM_002332		87	119	1	0	1.39691e-52	0.00361	1.62405e-52	87	119		
LRP1	4035	broad.mit.edu	37	12	57598266	57598266	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:57598266C>T	ENST00000243077.3	+	71	11491	c.11025C>T	c.(11023-11025)ggC>ggT	p.G3675G		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3675	LDL-receptor class A 29. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AGTGCGATGGCGAGGATGACT	0.632																																						uc001snd.2		NaN																	0				ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22						c.(11023-11025)GGC>GGT		low density lipoprotein-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						85.0	83.0	84.0					12																	57598266		2203	4300	6503	SO:0001819	synonymous_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57598266C>T	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.11025C>T	12.37:g.57598266C>T							p.G3675G	NM_002332	NP_002323	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	71	11491	+			3675			Extracellular (Potential).|LDL-receptor class A 29.		Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	ENST00000243077.3	37	c.11025C>T	CCDS8932.1																																																																																				0.632	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2		NM_002332		30	107	0	0	0	0.002836	0	30	107		
MBD6	114785	broad.mit.edu	37	12	57919889	57919889	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:57919889G>C	ENST00000355673.3	+	6	1494	c.1138G>C	c.(1138-1140)Ggc>Cgc	p.G380R	MBD6_ENST00000431731.2_Missense_Mutation_p.G380R	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	380	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						AGAAGGGAGAGGCCCTCAAAC	0.617																																						uc001soj.1		NaN																	0				central_nervous_system(3)|ovary(1)	4						c.(1138-1140)GGC>CGC		methyl-CpG binding domain protein 6							69.0	74.0	72.0					12																	57919889		2203	4300	6503	SO:0001583	missense	114785					chromosome|nucleus	chromatin binding|DNA binding	g.chr12:57919889G>C	AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.1138G>C	12.37:g.57919889G>C	ENSP00000347896:p.Gly380Arg					MBD6_uc001sok.1_Missense_Mutation_p.G247R|MBD6_uc001sol.1_5'Flank	p.G380R	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN			6	1362	+			380			Pro-rich.		Q8N3M0|Q8NA81|Q96Q00	Missense_Mutation	SNP	ENST00000355673.3	37	c.1138G>C	CCDS8944.1	.	.	.	.	.	.	.	.	.	.	g	12.59	1.984655	0.35036	.	.	ENSG00000166987	ENST00000355673;ENST00000431731	.	.	.	3.97	-0.121	0.13535	.	1.026690	0.07794	N	0.955396	T	0.22666	0.0547	N	0.08118	0	0.33142	D	0.544538	B;B	0.29162	0.235;0.126	B;B	0.36666	0.23;0.085	T	0.42699	-0.9436	8	.	.	.	0.3708	3.805	0.08773	0.2912:0.0:0.5401:0.1686	.	380;380	Q6P0P0;Q96DN6	.;MBD6_HUMAN	R	380	.	.	G	+	1	0	MBD6	56206156	1.000000	0.71417	0.993000	0.49108	0.989000	0.77384	0.872000	0.28037	-0.134000	0.11516	-0.227000	0.12334	GGC		0.617	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1				77	77	0	0	0	0.00361	0	77	77		
USP15	9958	broad.mit.edu	37	12	62785202	62785202	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:62785202G>A	ENST00000280377.5	+	16	2284	c.2226G>A	c.(2224-2226)agG>agA	p.R742R	USP15_ENST00000353364.3_Silent_p.R713R|USP15_ENST00000393654.3_Silent_p.R717R	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	742	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		GGCAGCTTAGGCTAGATGGTA	0.343																																					Melanoma(181;615 2041 39364 49691 50001)	uc001src.1		NaN																	0				ovary(2)|lung(1)	3						c.(2224-2226)AGG>AGA		ubiquitin specific peptidase 15							80.0	79.0	79.0					12																	62785202		2202	4295	6497	SO:0001819	synonymous_variant	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62785202G>A	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.2226G>A	12.37:g.62785202G>A						USP15_uc001srb.1_Silent_p.R713R	p.R742R	NM_006313	NP_006304	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	16	2235	+			742					Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Silent	SNP	ENST00000280377.5	37	c.2226G>A	CCDS58251.1																																																																																				0.343	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2		NM_006313		17	9	0	0	0	0.00278	0	17	9		
WIF1	11197	broad.mit.edu	37	12	65514281	65514281	+	Silent	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:65514281A>G	ENST00000286574.4	-	2	578	c.204T>C	c.(202-204)caT>caC	p.H68H		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	68	WIF. {ECO:0000255|PROSITE- ProRule:PRU00222}.				multicellular organismal development (GO:0007275)|positive regulation of fat cell differentiation (GO:0045600)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)				cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		TTCTGAAATCATGTGTAAAAG	0.378			T	HMGA2	pleomorphic salivary gland adenoma																																Esophageal Squamous(148;1595 1816 48559 49439 49664)	uc001ssk.2		NaN		Dom	yes		12	12q14.3	11197	T	WNT inhibitory factor 1			E	HMGA2		pleomorphic salivary gland adenoma		0				ovary(2)|lung(1)|skin(1)	4						c.(202-204)CAT>CAC		WNT inhibitory factor 1 precursor							144.0	149.0	147.0					12																	65514281		2203	4300	6503	SO:0001819	synonymous_variant	11197				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity	g.chr12:65514281A>G	AF122922	CCDS8971.1	12q14.2	2008-04-11			ENSG00000156076	ENSG00000156076			18081	protein-coding gene	gene with protein product		605186				10201374	Standard	NM_007191		Approved		uc001ssk.3	Q9Y5W5	OTTHUMG00000168832	ENST00000286574.4:c.204T>C	12.37:g.65514281A>G							p.H68H	NM_007191	NP_009122	Q9Y5W5	WIF1_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)	2	349	-			68			WIF.		Q6UXI1|Q8WVG4	Silent	SNP	ENST00000286574.4	37	c.204T>C	CCDS8971.1																																																																																				0.378	WIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401258.2				20	19	0	0	0	0.004656	0	20	19		
TMBIM4	51643	broad.mit.edu	37	12	66531850	66531850	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:66531850G>A	ENST00000358230.3	-	7	727	c.607C>T	c.(607-609)Cat>Tat	p.H203Y	TMBIM4_ENST00000542724.1_Missense_Mutation_p.H172Y|TMBIM4_ENST00000556010.1_3'UTR|TMBIM4_ENST00000544599.1_Missense_Mutation_p.H26Y|TMBIM4_ENST00000398033.4_3'UTR|TMBIM4_ENST00000286424.7_Missense_Mutation_p.H250Y|TMBIM4_ENST00000539652.1_3'UTR	NM_016056.2	NP_057140.2	Q9HC24	LFG4_HUMAN	transmembrane BAX inhibitor motif containing 4	203					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|regulation of calcium-mediated signaling (GO:0050848)	Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		GACAGTTTATGCATCAGTGAG	0.413																																						uc001stc.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(607-609)CAT>TAT		transmembrane BAX inhibitor motif containing 4							121.0	117.0	118.0					12																	66531850		1942	4150	6092	SO:0001583	missense	51643					integral to membrane	protein binding	g.chr12:66531850G>A	AF113127	CCDS41805.1, CCDS61187.1, CCDS73493.1	12q14.3	2014-05-09			ENSG00000155957	ENSG00000155957			24257	protein-coding gene	gene with protein product						11042152, 10810093	Standard	NM_001282609		Approved	CGI-119, S1R, ZPRO, LFG4, GAAP	uc001stc.3	Q9HC24	OTTHUMG00000168973	ENST00000358230.3:c.607C>T	12.37:g.66531850G>A	ENSP00000350965:p.His203Tyr					LLPH_uc010ssx.1_RNA|TMBIM4_uc001std.2_Missense_Mutation_p.H172Y|TMBIM4_uc009zqr.2_Missense_Mutation_p.H250Y|TMBIM4_uc001ste.2_RNA|TMBIM4_uc001stf.2_3'UTR|TMBIM4_uc009zqs.2_3'UTR	p.H203Y	NM_016056	NP_057140	Q9HC24	TMBI4_HUMAN		GBM - Glioblastoma multiforme(28;0.0745)	7	683	-			203					Q542Z6|Q9UHY5|Q9Y3C2	Missense_Mutation	SNP	ENST00000358230.3	37	c.607C>T	CCDS41805.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.479048	0.84747	.	.	ENSG00000155957	ENST00000358230;ENST00000544599;ENST00000286424;ENST00000539043;ENST00000539427;ENST00000542724	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	6.17	6.17	0.99709	.	0.100034	0.64402	D	0.000002	T	0.50051	0.1593	L	0.47716	1.5	0.80722	D	1	B;P;P	0.41978	0.198;0.767;0.67	B;P;P	0.47915	0.257;0.561;0.542	T	0.15752	-1.0426	9	.	.	.	-14.4761	20.8794	0.99867	0.0:0.0:1.0:0.0	.	250;172;203	G3XAA5;G3V1M2;Q9HC24	.;.;TMBI4_HUMAN	Y	203;26;250;203;248;172	ENSP00000350965:H203Y;ENSP00000444639:H26Y;ENSP00000286424:H250Y;ENSP00000441291:H172Y	.	H	-	1	0	TMBIM4	64818117	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	5.487000	0.66863	2.941000	0.99782	0.655000	0.94253	CAT		0.413	TMBIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401832.2		NM_016056		8	33	0	0	0	0.008291	0	8	33		
LYZ	4069	broad.mit.edu	37	12	69746950	69746950	+	Missense_Mutation	SNP	G	G	A	rs570121782		TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:69746950G>A	ENST00000261267.2	+	4	466	c.398G>A	c.(397-399)cGt>cAt	p.R133H	LYZ_ENST00000549690.1_Missense_Mutation_p.V107I|RP11-1143G9.4_ENST00000548900.1_RNA	NM_000239.2	NP_000230.1	P61626	LYSC_HUMAN	lysozyme	133					cell wall macromolecule catabolic process (GO:0016998)|cytolysis (GO:0019835)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|retina homeostasis (GO:0001895)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|lysozyme activity (GO:0003796)			endometrium(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_epithelial(5;2.98e-35)|Lung NSC(4;9.93e-33)|all_lung(4;5.66e-31)|Breast(13;2.56e-06)|Esophageal squamous(21;0.187)		Epithelial(6;8.26e-19)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00503)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)		L-Aspartic Acid(DB00128)	TGGAGAAATCGTTGTCAAAAC	0.398													g|||	1	0.000199681	0.0	0.0	5008	,	,		17443	0.0		0.0	False		,,,				2504	0.001					uc001suw.2		NaN																	0					0						c.(397-399)CGT>CAT		lysozyme precursor							187.0	170.0	176.0					12																	69746950		2203	4300	6503	SO:0001583	missense	4069				cell wall macromolecule catabolic process|cytolysis|defense response to bacterium|inflammatory response	extracellular space	lysozyme activity|protein binding	g.chr12:69746950G>A	X14008	CCDS8989.1	12q15	2014-09-17	2010-04-29			ENSG00000090382	3.2.1.17		6740	protein-coding gene	gene with protein product	"""renal amyloidosis"""	153450	"""lysozyme (renal amyloidosis)"""			8464497, 2546758	Standard	NM_000239		Approved		uc001suw.2	P61626	OTTHUMG00000169342	ENST00000261267.2:c.398G>A	12.37:g.69746950G>A	ENSP00000261267:p.Arg133His						p.R133H	NM_000239	NP_000230	P61626	LYSC_HUMAN	Epithelial(6;8.26e-19)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00503)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)		4	453	+	all_epithelial(5;2.98e-35)|Lung NSC(4;9.93e-33)|all_lung(4;5.66e-31)|Breast(13;2.56e-06)|Esophageal squamous(21;0.187)		133					P00695|Q13170|Q9UCF8	Missense_Mutation	SNP	ENST00000261267.2	37	c.398G>A	CCDS8989.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	10.80|10.80	1.453683|1.453683	0.26161|0.26161	.|.	.|.	ENSG00000090382|ENSG00000090382	ENST00000261267|ENST00000549690	T|T	0.74002|0.66099	-0.8|-0.19	5.84|5.84	-3.15|-3.15	0.05233|0.05233	Lysozyme-like domain (1);|.	0.780573|.	0.12314|.	N|.	0.479873|.	T|T	0.23451|0.23451	0.0567|0.0567	N|N	0.00303|0.00303	-1.675|-1.675	0.09310|0.09310	N|N	0.999999|0.999999	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.34900|0.34900	-0.9810|-0.9810	9|6	.|.	.|.	.|.	.|.	13.7083|13.7083	0.62653|0.62653	0.5176:0.0:0.4824:0.0|0.5176:0.0:0.4824:0.0	.|.	133|.	P61626|.	LYSC_HUMAN|.	H|I	133|107	ENSP00000261267:R133H|ENSP00000449898:V107I	.|.	R|V	+|+	2|1	0|0	LYZ|LYZ	68033217|68033217	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.055000|-0.055000	0.11807|0.11807	-0.623000|-0.623000	0.05618|0.05618	-2.054000|-2.054000	0.00404|0.00404	CGT|GTT		0.398	LYZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403624.2		NM_000239		27	40	0	0	0	0.002836	0	27	40		
ALX1	8092	broad.mit.edu	37	12	85694982	85694982	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:85694982C>A	ENST00000316824.3	+	4	865	c.710C>A	c.(709-711)aCt>aAt	p.T237N		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	237					anterior/posterior pattern specification (GO:0009952)|brain development (GO:0007420)|cartilage condensation (GO:0001502)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|mesenchymal cell development (GO:0014031)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		TCTGTGGTTACTTCATGCATG	0.408																																						uc001tae.3		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(709-711)ACT>AAT		cartilage paired-class homeoprotein 1							155.0	145.0	148.0					12																	85694982		2203	4300	6503	SO:0001583	missense	8092				brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:85694982C>A	U31986	CCDS9028.1	12q21.31	2011-06-20	2007-07-26	2007-07-26		ENSG00000180318		"""Homeoboxes / PRD class"""	1494	protein-coding gene	gene with protein product		601527	"""cartilage paired-class homeoprotein 1"""	CART1		8756334, 7592751	Standard	NM_006982		Approved		uc001tae.4	Q15699	OTTHUMG00000169820	ENST00000316824.3:c.710C>A	12.37:g.85694982C>A	ENSP00000315417:p.Thr237Asn						p.T237N	NM_006982	NP_008913	Q15699	ALX1_HUMAN		GBM - Glioblastoma multiforme(134;0.134)	4	714	+			237					Q546C8|Q96FH4	Missense_Mutation	SNP	ENST00000316824.3	37	c.710C>A	CCDS9028.1	.	.	.	.	.	.	.	.	.	.	C	14.87	2.664790	0.47572	.	.	ENSG00000180318	ENST00000316824	D	0.92249	-3.0	5.99	5.99	0.97316	.	0.096809	0.64402	D	0.000001	D	0.90662	0.7071	N	0.22421	0.69	0.58432	D	0.999999	D	0.57257	0.979	P	0.51918	0.684	D	0.88537	0.3107	10	0.26408	T	0.33	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	237	Q15699	ALX1_HUMAN	N	237	ENSP00000315417:T237N	ENSP00000315417:T237N	T	+	2	0	ALX1	84219113	1.000000	0.71417	0.963000	0.40424	0.974000	0.67602	7.426000	0.80270	2.840000	0.97914	0.655000	0.94253	ACT		0.408	ALX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406072.1		NM_006982		30	39	1	0	1.04594e-18	0.00623	1.15349e-18	30	39		
PAH	5053	broad.mit.edu	37	12	103246694	103246694	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:103246694G>A	ENST00000553106.1	-	7	1213	c.741C>T	c.(739-741)ggC>ggT	p.G247G	PAH_ENST00000551988.1_5'Flank|PAH_ENST00000307000.2_Silent_p.G242G	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	247			G -> V (in PKU; haplotype 4).		catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	AGGAAAGCAGGCCAGCCACAG	0.537																																						uc001tjq.1		NaN																	0				ovary(4)	4						c.(739-741)GGC>GGT		phenylalanine hydroxylase	Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)						74.0	81.0	79.0					12																	103246694		2203	4300	6503	SO:0001819	synonymous_variant	5053				catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity	g.chr12:103246694G>A	U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"""phenylalanine 4-monooxygenase"""	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.741C>T	12.37:g.103246694G>A							p.G247G	NM_000277	NP_000268	P00439	PH4H_HUMAN			8	1213	-			247		G -> V (in PKU; haplotype 4).			Q16717|Q8TC14	Silent	SNP	ENST00000553106.1	37	c.741C>T	CCDS9092.1																																																																																				0.537	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406692.1				11	18	0	0	0	0.003163	0	11	18		
FICD	11153	broad.mit.edu	37	12	108912880	108912880	+	Silent	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:108912880A>G	ENST00000552695.1	+	3	1240	c.1005A>G	c.(1003-1005)gtA>gtG	p.V335V	FICD_ENST00000361549.2_3'UTR	NM_007076.2	NP_009007.2	Q9BVA6	FICD_HUMAN	FIC domain containing	335	Fido. {ECO:0000255|PROSITE- ProRule:PRU00791}.				negative regulation of Rho GTPase activity (GO:0034259)|protein adenylylation (GO:0018117)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein adenylyltransferase activity (GO:0070733)			NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						AGGAGTTTGTACAGTGGCTCA	0.542																																						uc001tmx.1		NaN																	0					0						c.(1003-1005)GTA>GTG		Huntingtin interacting protein E							120.0	114.0	116.0					12																	108912880		2203	4300	6503	SO:0001819	synonymous_variant	11153				negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity	g.chr12:108912880A>G	AF049611	CCDS9116.1	12q24.1	2007-12-05				ENSG00000198855			18416	protein-coding gene	gene with protein product	"""huntingtin interacting protein 13"", ""fic S-phase protein cell division homolog (E. coli)"""					9700202	Standard	NM_007076		Approved	HYPE, HIP13	uc001tmx.1	Q9BVA6		ENST00000552695.1:c.1005A>G	12.37:g.108912880A>G							p.V335V	NM_007076	NP_009007	Q9BVA6	FICD_HUMAN			3	1151	+			335			Fido.		O75406	Silent	SNP	ENST00000552695.1	37	c.1005A>G	CCDS9116.1																																																																																				0.542	FICD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404842.1		NM_007076		43	38	0	0	0	0.003214	0	43	38		
CIT	11113	broad.mit.edu	37	12	120288005	120288006	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:120288005_120288006GG>TT	ENST00000261833.7	-	5	540_541	c.488_489CC>AA	c.(487-489)gCC>gAA	p.A163E	CIT_ENST00000392521.2_Missense_Mutation_p.A163E	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	163	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TGTCCTGAAAGGCATACTGTAA	0.426																																						uc001txi.1		NaN																	0				ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10						c.(487-489)GCC>GAA		citron																																				SO:0001583	missense	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120288005_120288006GG>TT	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.488_489delinsTT	12.37:g.120288005_120288006delinsTT	ENSP00000261833:p.Ala163Glu					CIT_uc001txj.1_Missense_Mutation_p.A163E	p.A163E	NM_007174	NP_009105	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	5	541_542	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	163			Protein kinase.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	DNP	ENST00000261833.7	37	c.488_489CC>AA	CCDS9192.1																																																																																				0.426	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4		NM_007174		60	75	0	0	0	0.004672	0	60	75		
KDM2B	84678	broad.mit.edu	37	12	121947735	121947735	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:121947735C>A	ENST00000377071.4	-	11	1354	c.1282G>T	c.(1282-1284)Gag>Tag	p.E428*	KDM2B_ENST00000538046.2_Nonsense_Mutation_p.E338*|KDM2B_ENST00000377069.4_Nonsense_Mutation_p.E397*|KDM2B_ENST00000536437.1_Nonsense_Mutation_p.E311*|KDM2B_ENST00000542973.1_5'Flank	NM_032590.4	NP_115979.3	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	428	Glu-rich.				embryonic camera-type eye morphogenesis (GO:0048596)|forebrain development (GO:0030900)|fourth ventricle development (GO:0021592)|hindbrain development (GO:0030902)|histone demethylation (GO:0016577)|histone H2A monoubiquitination (GO:0035518)|initiation of neural tube closure (GO:0021993)|lateral ventricle development (GO:0021670)|midbrain development (GO:0030901)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K36 specific) (GO:0051864)|rRNA binding (GO:0019843)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CCCTCGCcctcctcgtccttc	0.647																																						uc001uat.2		NaN																	0				ovary(1)|skin(1)	2						c.(1282-1284)GAG>TAG		F-box and leucine-rich repeat protein 10 isoform							43.0	52.0	49.0					12																	121947735		2065	4179	6244	SO:0001587	stop_gained	84678				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	g.chr12:121947735C>A	AJ459424	CCDS41849.1, CCDS41850.1	12q24.31	2014-02-18	2009-04-06	2009-04-06	ENSG00000089094	ENSG00000089094		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13610	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1B"""	609078	"""F-box and leucine-rich repeat protein 10"""	FBXL10		10799292	Standard	NM_032590		Approved	PCCX2, CXXC2, Fbl10, JHDM1B	uc001uat.3	Q8NHM5	OTTHUMG00000169071	ENST00000377071.4:c.1282G>T	12.37:g.121947735C>A	ENSP00000366271:p.Glu428*					KDM2B_uc001uar.2_Nonsense_Mutation_p.E19*|KDM2B_uc001uas.2_Nonsense_Mutation_p.E397*|KDM2B_uc001uau.2_Nonsense_Mutation_p.E311*|KDM2B_uc001uav.3_Nonsense_Mutation_p.E338*	p.E428*	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN			11	1386	-			428			Glu-rich.		A8MRS1|Q8NCI2|Q96HC7|Q96SL0|Q96T03|Q9NS96|Q9UF75	Nonsense_Mutation	SNP	ENST00000377071.4	37	c.1282G>T	CCDS41850.1	.	.	.	.	.	.	.	.	.	.	C	14.96	2.690925	0.48097	.	.	ENSG00000089094	ENST00000397480;ENST00000377069;ENST00000377071;ENST00000536437;ENST00000397478;ENST00000261824;ENST00000446152	.	.	.	4.43	2.15	0.27550	.	0.519813	0.17468	N	0.173166	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-11.2876	6.5535	0.22448	0.0:0.6278:0.2684:0.1038	.	.	.	.	X	428;397;428;311;428;428;391	.	ENSP00000261824:E428X	E	-	1	0	KDM2B	120432118	0.981000	0.34729	0.971000	0.41717	0.218000	0.24690	1.939000	0.40213	0.540000	0.28808	0.655000	0.94253	GAG		0.647	KDM2B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402132.2		NM_032590		12	34	1	0	4.14922e-12	0.004007	4.4724e-12	12	34		
BRI3BP	140707	broad.mit.edu	37	12	125497182	125497182	+	Splice_Site	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:125497182G>A	ENST00000341446.8	+	2	407	c.316G>A	c.(316-318)Gtc>Atc	p.V106I		NM_080626.5	NP_542193.3			BRI3 binding protein											large_intestine(1)|lung(8)|ovary(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)		TGGACTTGACGGTAGGTGTAG	0.488																																						uc001uha.1		NaN																	0				ovary(1)	1						c.(316-318)GTC>ATC		BRI3-binding protein							295.0	267.0	277.0					12																	125497182		2203	4300	6503	SO:0001630	splice_region_variant	140707					integral to membrane|mitochondrial outer membrane		g.chr12:125497182G>A	AF284094	CCDS9262.1	12q24.1	2008-08-04			ENSG00000184992	ENSG00000184992			14251	protein-coding gene	gene with protein product		615627				11860200, 17765869	Standard	NM_080626		Approved	BNAS1, KG19, HCCR-2	uc001uha.1	Q8WY22	OTTHUMG00000168548	ENST00000341446.8:c.316+1G>A	12.37:g.125497182G>A							p.V106I	NM_080626	NP_542193	Q8WY22	BRI3B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576)	2	459	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		106						Missense_Mutation	SNP	ENST00000341446.8	37	c.316G>A	CCDS9262.1	.	.	.	.	.	.	.	.	.	.	G	17.05	3.289786	0.59976	.	.	ENSG00000184992	ENST00000341446	.	.	.	4.74	4.74	0.60224	.	0.229842	0.44483	D	0.000460	T	0.48822	0.1521	L	0.40543	1.245	0.80722	D	1	P	0.36660	0.564	B	0.31016	0.123	T	0.56257	-0.8009	9	0.59425	D	0.04	-20.0145	17.3119	0.87212	0.0:0.0:1.0:0.0	.	106	Q8WY22	BRI3B_HUMAN	I	106	.	ENSP00000340761:V106I	V	+	1	0	BRI3BP	124063135	1.000000	0.71417	0.999000	0.59377	0.185000	0.23345	4.335000	0.59298	2.169000	0.68431	0.491000	0.48974	GTC		0.488	BRI3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400200.2		NM_080626	Missense_Mutation	25	112	0	0	0	0.009535	0	25	112		
ATP8A2	51761	broad.mit.edu	37	13	26129158	26129158	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr13:26129158C>A	ENST00000381655.2	+	13	1357	c.1215C>A	c.(1213-1215)gaC>gaA	p.D405E	ATP8A2_ENST00000255283.8_Missense_Mutation_p.D365E	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	365					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TAGGAAATGACACTCCTGCCA	0.408																																						uc001uqk.2		NaN																	0				ovary(2)|large_intestine(1)|skin(1)	4						c.(1213-1215)GAC>GAA		ATPase, aminophospholipid transporter-like,							99.0	96.0	97.0					13																	26129158		1835	4092	5927	SO:0001583	missense	51761				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:26129158C>A	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.1215C>A	13.37:g.26129158C>A	ENSP00000371070:p.Asp405Glu					ATP8A2_uc010tdi.1_Missense_Mutation_p.D365E|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc001uql.1_Missense_Mutation_p.D365E	p.D405E	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	13	1357	+		Breast(139;0.0201)|Lung SC(185;0.0225)	365			Cytoplasmic (Potential).		Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	c.1215C>A	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.936599	0.52972	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	T;T	0.74421	-0.84;-0.84	5.08	0.275	0.15659	.	0.000000	0.85682	D	0.000000	D	0.84065	0.5390	M	0.83483	2.645	0.45250	D	0.998251	D;D;D	0.67145	0.996;0.994;0.996	D;D;D	0.64687	0.927;0.928;0.927	D	0.84778	0.0771	10	0.87932	D	0	.	13.1942	0.59728	0.0:0.5751:0.0:0.4249	.	365;365;365	B7Z880;Q9NTI2-3;Q9NTI2	.;.;AT8A2_HUMAN	E	405;365;185	ENSP00000371070:D405E;ENSP00000255283:D365E	ENSP00000255283:D365E	D	+	3	2	ATP8A2	25027158	0.999000	0.42202	0.995000	0.50966	0.644000	0.38419	0.748000	0.26305	-0.132000	0.11557	-0.847000	0.03039	GAC		0.408	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2		NM_016529		7	22	1	0	2.74318e-10	0.006214	2.92016e-10	7	22		
KL	9365	broad.mit.edu	37	13	33628356	33628356	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr13:33628356G>C	ENST00000380099.3	+	2	1280	c.1272G>C	c.(1270-1272)aaG>aaC	p.K424N	KL_ENST00000426690.2_Missense_Mutation_p.K117N|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	424	Glycosyl hydrolase-1 1.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GGACCACCAAGAGAGATGATG	0.393																																						uc001uus.2		NaN																	0				large_intestine(1)|ovary(1)|skin(1)	3						c.(1270-1272)AAG>AAC		klotho precursor							104.0	110.0	108.0					13																	33628356		2203	4300	6503	SO:0001583	missense	9365				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding	g.chr13:33628356G>C	AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.1272G>C	13.37:g.33628356G>C	ENSP00000369442:p.Lys424Asn					KL_uc001uur.1_Missense_Mutation_p.K117N	p.K424N	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)	2	1280	+	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)	424			Glycosyl hydrolase-1 1.|Extracellular (Potential).		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Missense_Mutation	SNP	ENST00000380099.3	37	c.1272G>C	CCDS9347.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.092057	0.55968	.	.	ENSG00000133116	ENST00000426690;ENST00000380099	T;T	0.33438	1.41;1.41	5.9	2.71	0.32032	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.347005	0.35903	N	0.002908	T	0.34600	0.0903	L	0.41632	1.29	0.58432	D	0.999995	P;P	0.49447	0.924;0.864	P;P	0.55455	0.776;0.658	T	0.02676	-1.1125	10	0.33141	T	0.24	-11.5734	8.5907	0.33686	0.3394:0.0:0.6606:0.0	.	424;117	Q9UEF7;B3KUJ4	KLOT_HUMAN;.	N	117;424	ENSP00000399513:K117N;ENSP00000369442:K424N	ENSP00000369442:K424N	K	+	3	2	KL	32526356	1.000000	0.71417	0.992000	0.48379	0.878000	0.50629	0.838000	0.27572	0.584000	0.29591	0.655000	0.94253	AAG		0.393	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045987.1				22	19	0	0	0	0.00333	0	22	19		
HTR2A	3356	broad.mit.edu	37	13	47409473	47409473	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr13:47409473G>A	ENST00000378688.4	-	3	1046	c.915C>T	c.(913-915)tcC>tcT	p.S305S	HTR2A_ENST00000542664.1_Silent_p.S305S|HTR2A_ENST00000543956.1_Silent_p.S221S			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	305					activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|behavioral response to cocaine (GO:0048148)|cell death (GO:0008219)|cellular calcium ion homeostasis (GO:0006874)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|memory (GO:0007613)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glycolytic process (GO:0045821)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|positive regulation of vasoconstriction (GO:0045907)|protein localization to cytoskeleton (GO:0044380)|regulation of behavior (GO:0050795)|regulation of dopamine secretion (GO:0014059)|regulation of hormone secretion (GO:0046883)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|sleep (GO:0030431)|synaptic transmission (GO:0007268)|temperature homeostasis (GO:0001659)|urinary bladder smooth muscle contraction (GO:0014832)	cell body fiber (GO:0070852)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Acepromazine(DB01614)|Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinitapride(DB08810)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Donepezil(DB00843)|Doxepin(DB01142)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Flupentixol(DB00875)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mesoridazine(DB00933)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Molindone(DB01618)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Pergolide(DB01186)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Thiothixene(DB01623)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	TGCCTGTGTAGGACCCTGGCT	0.522																																						uc001vbq.2		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	6						c.(913-915)TCC>TCT		5-hydroxytryptamine receptor 2A isoform 1	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						116.0	94.0	102.0					13																	47409473		2203	4300	6503	SO:0001819	synonymous_variant	3356				ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity	g.chr13:47409473G>A	X57830	CCDS9405.1, CCDS53867.1	13q14-q21	2012-08-08	2012-02-03		ENSG00000102468	ENSG00000102468		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5293	protein-coding gene	gene with protein product		182135	"""5-hydroxytryptamine (serotonin) receptor 2A"""	HTR2		8035173	Standard	NM_000621		Approved	5-HT2A	uc010acr.4	P28223	OTTHUMG00000016881	ENST00000378688.4:c.915C>T	13.37:g.47409473G>A						HTR2A_uc001vbr.2_Silent_p.S205S|HTR2A_uc010acr.2_Silent_p.S305S	p.S305S	NM_000621	NP_000612	P28223	5HT2A_HUMAN		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	3	1049	-		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)	305			Cytoplasmic (By similarity).		B2RAC5|B4DZ79|F5GWE8|Q5T8C0	Silent	SNP	ENST00000378688.4	37	c.915C>T	CCDS9405.1																																																																																				0.522	HTR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044835.3		NM_000621		6	4	0	0	0	0.001168	0	6	4		
RB1	5925	broad.mit.edu	37	13	49050846	49050846	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr13:49050846A>T	ENST00000267163.4	+	25	2668	c.2530A>T	c.(2530-2532)Aag>Tag	p.K844*	RB1_ENST00000484879.1_3'UTR	NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	844	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GACTTCTGAGAAGTTCCAGAA	0.363		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.2		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	D|Mis|N|F|S	retinoblastoma gene			"""L, E, M, O"""		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung		26	Whole gene deletion(15)|Unknown(11)	p.?(7)	bone(11)|haematopoietic_and_lymphoid_tissue(4)|breast(4)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|lung(1)|liver(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358						c.(2530-2532)AAG>TAG		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						65.0	66.0	66.0					13																	49050846		2203	4300	6503	SO:0001587	stop_gained	5925	Hereditary_Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:49050846A>T	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.2530A>T	13.37:g.49050846A>T	ENSP00000267163:p.Lys844*	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.K844*	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	25	2696	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	844			Interaction with LIMD1.|Domain C; mediates interaction with E4F1.		A8K5E3|P78499|Q5VW46|Q8IZL4	Nonsense_Mutation	SNP	ENST00000267163.4	37	c.2530A>T	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	A	42	9.343170	0.99143	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	.	.	.	5.74	5.74	0.90152	.	0.065171	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.6945	0.77484	1.0:0.0:0.0:0.0	.	.	.	.	X	823;844	.	ENSP00000267163:K844X	K	+	1	0	RB1	47948847	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.063000	0.71162	2.182000	0.69389	0.482000	0.46254	AAG		0.363	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1				5	4	0	0	0	0.001984	0	5	4		
DCT	1638	broad.mit.edu	37	13	95117984	95117984	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr13:95117984C>T	ENST00000377028.5	-	4	1179	c.766G>A	c.(766-768)Gtg>Atg	p.V256M	DCT_ENST00000490854.1_5'UTR|AL139318.1_ENST00000390768.1_RNA|DCT_ENST00000446125.1_Missense_Mutation_p.V256M	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	256					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		TCTGTACACACATCACACTCG	0.493																																						uc001vlv.3		NaN																	0				ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	5						c.(766-768)GTG>ATG		dopachrome tautomerase isoform 1							146.0	115.0	126.0					13																	95117984		2203	4300	6503	SO:0001583	missense	1638				epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity	g.chr13:95117984C>T	D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"""dopachrome delta-isomerase"""	191275	"""tyrosine-related protein 2"""	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.766G>A	13.37:g.95117984C>T	ENSP00000366227:p.Val256Met					DCT_uc010afh.2_Missense_Mutation_p.V256M	p.V256M	NM_001922	NP_001913	P40126	TYRP2_HUMAN		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)	4	1193	-	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)	256			Lumenal, melanosome (Potential).		Q09GT4	Missense_Mutation	SNP	ENST00000377028.5	37	c.766G>A	CCDS9470.1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.692327	0.88735	.	.	ENSG00000080166	ENST00000377028;ENST00000446125	D;D	0.98914	-5.23;-5.23	5.82	4.95	0.65309	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.058031	0.64402	D	0.000001	D	0.98969	0.9649	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.99517	1.0957	10	0.59425	D	0.04	-11.3823	14.0665	0.64834	0.0:0.9251:0.0:0.0749	.	256;256	Q09GT4;P40126	.;TYRP2_HUMAN	M	256	ENSP00000366227:V256M;ENSP00000392762:V256M	ENSP00000366227:V256M	V	-	1	0	DCT	93915985	0.998000	0.40836	0.975000	0.42487	0.968000	0.65278	3.964000	0.56780	1.402000	0.46780	0.563000	0.77884	GTG		0.493	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045461.3				20	40	0	0	0	0.004656	0	20	40		
IPO5	3843	broad.mit.edu	37	13	98641409	98641409	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr13:98641409A>G	ENST00000490680.1	+	4	523	c.458A>G	c.(457-459)cAc>cGc	p.H153R	IPO5_ENST00000261574.5_Missense_Mutation_p.H171R|IPO5_ENST00000539640.1_Intron			O00410	IPO5_HUMAN	importin 5	153					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GCTGCCCTTCACATTTTCTGG	0.373																																						uc001vnf.1		NaN																	0				ovary(1)|lung(1)|skin(1)	3						c.(457-459)CAC>CGC		importin 5							61.0	62.0	62.0					13																	98641409		2203	4300	6503	SO:0001583	missense	3843				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding	g.chr13:98641409A>G	U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"""Importins"""	6402	protein-coding gene	gene with protein product		602008	"""karyopherin (importin) beta 3"", ""RAN binding protein 5"""	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.458A>G	13.37:g.98641409A>G	ENSP00000418393:p.His153Arg					IPO5_uc001vne.2_Missense_Mutation_p.H171R|IPO5_uc010tik.1_Intron|IPO5_uc010til.1_Missense_Mutation_p.H93R	p.H153R	NM_002271	NP_002262	O00410	IPO5_HUMAN			4	523	+			153					B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	ENST00000490680.1	37	c.458A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.76|12.76	2.035460|2.035460	0.35893|0.35893	.|.	.|.	ENSG00000065150|ENSG00000065150	ENST00000261574;ENST00000357602;ENST00000475420;ENST00000490680;ENST00000389591;ENST00000403772;ENST00000473582|ENST00000469360	T;T;T;T;T;T|.	0.66280|.	-0.2;-0.2;-0.2;-0.2;-0.2;3.67|.	5.72|5.72	5.72|5.72	0.89469|0.89469	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.41581|0.41581	0.1165|0.1165	N|N	0.11023|0.11023	0.085|0.085	0.80722|0.80722	D|D	1|1	B;B|.	0.22414|.	0.01;0.069|.	B;B|.	0.25614|.	0.028;0.062|.	T|T	0.35822|0.35822	-0.9773|-0.9773	10|5	0.02654|.	T|.	1|.	-10.2567|-10.2567	16.0023|16.0023	0.80306|0.80306	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	153;171|.	O00410;O00410-3|.	IPO5_HUMAN;.|.	R|A	171;153;153;153;126;124;134|155	ENSP00000261574:H171R;ENSP00000350219:H153R;ENSP00000420079:H153R;ENSP00000418393:H153R;ENSP00000385938:H124R;ENSP00000420491:H134R|.	ENSP00000261574:H171R|.	H|T	+|+	2|1	0|0	IPO5|IPO5	97439410|97439410	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	9.004000|9.004000	0.93583|0.93583	2.177000|2.177000	0.69029|0.69029	0.533000|0.533000	0.62120|0.62120	CAC|ACA		0.373	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1		NM_002271		10	10	0	0	0	0.000978	0	10	10		
EFNB2	1948	broad.mit.edu	37	13	107145643	107145643	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr13:107145643C>T	ENST00000245323.4	-	5	896	c.747G>A	c.(745-747)ttG>ttA	p.L249L		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	249					anatomical structure morphogenesis (GO:0009653)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|lymph vessel development (GO:0001945)|negative regulation of keratinocyte proliferation (GO:0010839)|organ morphogenesis (GO:0009887)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|regulation of chemotaxis (GO:0050920)|viral process (GO:0016032)	focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					GGTACTTCAGCAAGAGGACCA	0.572																																						uc001vqi.2		NaN																	0				ovary(1)	1						c.(745-747)TTG>TTA		ephrin B2 precursor							142.0	112.0	122.0					13																	107145643		2203	4300	6503	SO:0001819	synonymous_variant	1948				cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding	g.chr13:107145643C>T	L38734	CCDS9507.1	13q33	2011-03-09			ENSG00000125266	ENSG00000125266		"""Ephrins"""	3227	protein-coding gene	gene with protein product	"""HTK ligand"", ""ligand of eph-related kinase 5"", ""eph-related receptor tyrosine kinase ligand 5"""	600527		EPLG5		7833926	Standard	NM_004093		Approved	LERK5, Htk-L, HTKL, MGC126226, MGC126227, MGC126228	uc001vqi.3	P52799	OTTHUMG00000017324	ENST00000245323.4:c.747G>A	13.37:g.107145643C>T							p.L249L	NM_004093	NP_004084	P52799	EFNB2_HUMAN			5	772	-	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)		249			Helical; (Potential).		Q5JV56	Silent	SNP	ENST00000245323.4	37	c.747G>A	CCDS9507.1																																																																																				0.572	EFNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045733.4		NM_004093		57	111	0	0	0	0.00361	0	57	111		
OR4M1	441670	broad.mit.edu	37	14	20249060	20249060	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr14:20249060C>G	ENST00000315957.4	+	1	660	c.579C>G	c.(577-579)ttC>ttG	p.F193L		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	193						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCAACACCTTCCCAGAGGAGT	0.478																																						uc010tku.1		NaN																	0					0						c.(577-579)TTC>TTG		olfactory receptor, family 4, subfamily M,							333.0	288.0	303.0					14																	20249060		2203	4297	6500	SO:0001583	missense	441670				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20249060C>G		CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.579C>G	14.37:g.20249060C>G	ENSP00000319654:p.Phe193Leu						p.F193L	NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	579	+	all_cancers(95;0.00108)		193			Extracellular (Potential).		B9EH18|Q6IFA3	Missense_Mutation	SNP	ENST00000315957.4	37	c.579C>G	CCDS32021.1	.	.	.	.	.	.	.	.	.	.	.	13.53	2.264500	0.39995	.	.	ENSG00000176299	ENST00000315957	T	0.00137	8.68	4.43	3.52	0.40303	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000076	T	0.00178	0.0005	L	0.48362	1.52	0.34348	D	0.689486	B	0.22276	0.067	B	0.27796	0.083	T	0.56123	-0.8031	10	0.62326	D	0.03	-11.8279	10.797	0.46466	0.0:0.9047:0.0:0.0953	.	193	Q8NGD0	OR4M1_HUMAN	L	193	ENSP00000319654:F193L	ENSP00000319654:F193L	F	+	3	2	OR4M1	19318900	0.000000	0.05858	0.940000	0.37924	0.990000	0.78478	-0.139000	0.10358	1.194000	0.43101	0.506000	0.49869	TTC		0.478	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409770.1				28	82	0	0	0	0.003755	0	28	82		
SUPT16H	11198	broad.mit.edu	37	14	21834657	21834657	+	Silent	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr14:21834657G>T	ENST00000216297.2	-	8	1325	c.987C>A	c.(985-987)gtC>gtA	p.V329V		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	329					DNA repair (GO:0006281)|DNA replication (GO:0006260)|gene expression (GO:0010467)|nucleosome disassembly (GO:0006337)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.V329V(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CCACGTCCATGACAGCGTTAT	0.348																																						uc001wao.2		NaN																	1	Substitution - coding silent(1)		lung(1)		0						c.(985-987)GTC>GTA		chromatin-specific transcription elongation							229.0	209.0	216.0					14																	21834657		2203	4300	6503	SO:0001819	synonymous_variant	11198				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding	g.chr14:21834657G>T	AF152961	CCDS9569.1	14q11.1	2008-08-13	2001-11-28		ENSG00000092201	ENSG00000092201			11465	protein-coding gene	gene with protein product	"""facilitates chromatin remodeling 140 kDa subunit"""	605012	"""suppressor of Ty (S.cerevisiae) 16 homolog"""			9489704, 11239457	Standard	NM_007192		Approved	FACT, FACTP140, SPT16/CDC68, FLJ14010, FLJ10857, CDC68	uc001wao.2	Q9Y5B9	OTTHUMG00000029685	ENST00000216297.2:c.987C>A	14.37:g.21834657G>T							p.V329V	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)	8	1326	-	all_cancers(95;0.00115)		329					Q6GMT8|Q6P2F1|Q6PJM1|Q9NRX0	Silent	SNP	ENST00000216297.2	37	c.987C>A	CCDS9569.1																																																																																				0.348	SUPT16H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074025.2				12	85	1	0	4.7546e-09	0.004007	4.97494e-09	12	85		
EFS	10278	broad.mit.edu	37	14	23826494	23826494	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr14:23826494T>A	ENST00000216733.3	-	6	2234	c.1627A>T	c.(1627-1629)Aca>Tca	p.T543S	RP11-124D2.3_ENST00000554010.1_RNA|EFS_ENST00000351354.3_Missense_Mutation_p.T450S|EFS_ENST00000429593.2_Missense_Mutation_p.T374S	NM_005864.2	NP_005855.1	O43281	EFS_HUMAN	embryonal Fyn-associated substrate	543					cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		GCCAGTTCTGTTACACACTGC	0.612																																						uc001wjo.2		NaN																	0				large_intestine(1)	1						c.(1627-1629)ACA>TCA		embryonal Fyn-associated substrate isoform 1							63.0	62.0	62.0					14																	23826494		2203	4299	6502	SO:0001583	missense	10278				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding	g.chr14:23826494T>A	AB001466	CCDS9595.1, CCDS9596.1, CCDS61404.1	14q11.2-q12	2011-04-13			ENSG00000100842	ENSG00000100842		"""Cas scaffolding proteins"""	16898	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 3"""	609906				9349509	Standard	NM_005864		Approved	EFS2, EFS1, HEFS, SIN, CASS3	uc001wjo.4	O43281	OTTHUMG00000028741	ENST00000216733.3:c.1627A>T	14.37:g.23826494T>A	ENSP00000216733:p.Thr543Ser					EFS_uc001wjp.2_Missense_Mutation_p.T450S|EFS_uc010tnm.1_Missense_Mutation_p.T374S	p.T543S	NM_005864	NP_005855	O43281	EFS_HUMAN		GBM - Glioblastoma multiforme(265;0.00649)	6	2235	-	all_cancers(95;7.12e-06)		543					B2RAJ7|B4DJ56|E9PGU2|O43282	Missense_Mutation	SNP	ENST00000216733.3	37	c.1627A>T	CCDS9595.1	.	.	.	.	.	.	.	.	.	.	T	1.825	-0.471318	0.04445	.	.	ENSG00000100842	ENST00000216733;ENST00000351354;ENST00000429593	T;T;T	0.21932	1.98;1.98;1.98	4.49	0.513	0.17000	CAS family, DUF3513 (1);	0.388172	0.25753	N	0.028536	T	0.10337	0.0253	L	0.29908	0.895	0.20638	N	0.999871	B;B;B	0.15141	0.012;0.001;0.003	B;B;B	0.16289	0.014;0.003;0.015	T	0.33471	-0.9867	10	0.09843	T	0.71	-0.9369	4.2736	0.10797	0.1497:0.4868:0.0:0.3635	.	374;450;543	B4DJ56;O43281-2;O43281	.;.;EFS_HUMAN	S	543;450;374	ENSP00000216733:T543S;ENSP00000340607:T450S;ENSP00000416684:T374S	ENSP00000216733:T543S	T	-	1	0	EFS	22896334	0.004000	0.15560	0.709000	0.30452	0.015000	0.08874	0.017000	0.13399	0.150000	0.19136	-0.242000	0.12053	ACA		0.612	EFS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071770.2				31	101	0	0	0	0.004289	0	31	101		
DHRS4L1	728635	broad.mit.edu	37	14	24518021	24518021	+	RNA	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr14:24518021G>C	ENST00000558293.1	+	0	668					NR_102693.1																						CAGCAGGATGGTGAGGAAGGG	0.547																																						uc010alc.2		NaN																	0					0						c.e8+1		dehydrogenase/reductase (SDR family) member 4							137.0	130.0	132.0					14																	24518021		2203	4300	6503			728635						binding|oxidoreductase activity	g.chr14:24518021G>C																													14.37:g.24518021G>C						DHRS4L1_uc010tnu.1_Splice_Site	p.M225_splice	NM_001082488	NP_001075957	P0CG22	DR4L1_HUMAN			8	675	+									Splice_Site	SNP	ENST00000558293.1	37	c.675_splice		.	.	.	.	.	.	.	.	.	.	G	15.81	2.943939	0.53079	.	.	ENSG00000225766	ENST00000397065	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0955	0.72232	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AL136295.1	23587861	1.000000	0.71417	0.971000	0.41717	0.064000	0.16182	7.761000	0.85260	2.418000	0.82041	0.400000	0.26472	.		0.547	RP11-468E2.9-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417272.1				17	109	0	0	0	0.00632	0	17	109		
RALGAPA1	253959	broad.mit.edu	37	14	36277976	36277976	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr14:36277976C>T	ENST00000389698.3	-	1	456	c.66G>A	c.(64-66)aaG>aaA	p.K22K	AL162311.1_ENST00000582013.1_RNA|RALGAPA1_ENST00000307138.6_Silent_p.K22K|RALGAPA1_ENST00000258840.6_Silent_p.K22K|RALGAPA1_ENST00000382366.3_Silent_p.K22K	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	22					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCAGTGCGTCCTTCTTGGTGT	0.642																																						uc001wti.2		NaN																	0				ovary(3)|breast(1)	4						c.(64-66)AAG>AAA		Ral GTPase activating protein, alpha subunit 1							86.0	61.0	69.0					14																	36277976		2203	4298	6501	SO:0001819	synonymous_variant	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36277976C>T	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.66G>A	14.37:g.36277976C>T						RALGAPA1_uc001wtj.2_Silent_p.K22K|RALGAPA1_uc010tpv.1_Silent_p.K22K|RALGAPA1_uc010tpw.1_Silent_p.K22K	p.K22K	NM_014990	NP_055805	Q6GYQ0	RGPA1_HUMAN			1	457	-			22					A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Silent	SNP	ENST00000389698.3	37	c.66G>A	CCDS32065.1																																																																																				0.642	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1		XM_210022		28	25	0	0	0	0.004289	0	28	25		
SSTR1	6751	broad.mit.edu	37	14	38679681	38679681	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr14:38679681T>C	ENST00000267377.2	+	3	1704	c.1087T>C	c.(1087-1089)Tac>Cac	p.Y363H		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	363					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to estradiol stimulus (GO:0071392)|cerebellum development (GO:0021549)|digestion (GO:0007586)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glutamate receptor signaling pathway (GO:0007215)|negative regulation of cell proliferation (GO:0008285)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	somatostatin receptor activity (GO:0004994)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)|Pasireotide(DB06663)	GAGCCGTGCCTACAGTGTGGA	0.617																																						uc001wul.1		NaN																	0				central_nervous_system(3)|ovary(1)|lung(1)	5						c.(1087-1089)TAC>CAC		somatostatin receptor 1	Octreotide(DB00104)						66.0	65.0	66.0					14																	38679681		2203	4300	6503	SO:0001583	missense	6751				digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity	g.chr14:38679681T>C		CCDS9666.1	14q13	2012-08-08			ENSG00000139874	ENSG00000139874		"""GPCR / Class A : Somatostatin receptors"""	11330	protein-coding gene	gene with protein product		182451				8449518	Standard	NM_001049		Approved		uc001wul.1	P30872	OTTHUMG00000140249	ENST00000267377.2:c.1087T>C	14.37:g.38679681T>C	ENSP00000267377:p.Tyr363His					SSTR1_uc010amu.1_Intron	p.Y363H	NM_001049	NP_001040	P30872	SSR1_HUMAN	Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	3	1704	+	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		363			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000267377.2	37	c.1087T>C	CCDS9666.1	.	.	.	.	.	.	.	.	.	.	T	13.38	2.218715	0.39201	.	.	ENSG00000139874	ENST00000267377	T	0.70164	-0.46	4.82	4.82	0.62117	.	0.000000	0.44483	D	0.000447	T	0.47303	0.1438	L	0.29908	0.895	0.47308	D	0.999382	P	0.45902	0.868	B	0.32864	0.154	T	0.48043	-0.9069	10	0.17832	T	0.49	.	13.7174	0.62705	0.0:0.0:0.0:1.0	.	363	P30872	SSR1_HUMAN	H	363	ENSP00000267377:Y363H	ENSP00000267377:Y363H	Y	+	1	0	SSTR1	37749432	0.998000	0.40836	1.000000	0.80357	0.768000	0.43524	3.401000	0.52601	2.034000	0.60081	0.459000	0.35465	TAC		0.617	SSTR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409930.2				118	62	0	0	0	0.00361	0	118	62		
SYNE2	23224	broad.mit.edu	37	14	64408416	64408416	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr14:64408416A>G	ENST00000344113.4	+	4	357	c.145A>G	c.(145-147)Act>Gct	p.T49A	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000356081.3_Missense_Mutation_p.T49A|SYNE2_ENST00000341472.5_Missense_Mutation_p.T49A|SYNE2_ENST00000358025.3_Missense_Mutation_p.T49A|SYNE2_ENST00000554584.1_Missense_Mutation_p.T49A	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	49	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCTGCAGCACACTTCTCCCTC	0.373																																						uc001xgm.2		NaN																	0				ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(145-147)ACT>GCT		spectrin repeat containing, nuclear envelope 2							110.0	101.0	104.0					14																	64408416		1869	4115	5984	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64408416A>G	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.145A>G	14.37:g.64408416A>G	ENSP00000341781:p.Thr49Ala					SYNE2_uc001xgk.2_Missense_Mutation_p.T49A|SYNE2_uc001xgl.2_Missense_Mutation_p.T49A	p.T49A	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	4	375	+			49			CH 1.|Cytoplasmic (Potential).|Actin-binding.		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.145A>G	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	A	0.788	-0.759959	0.03019	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000341472;ENST00000356081;ENST00000554584;ENST00000261678	D;D;D;D;D	0.94862	-3.54;-3.54;-3.54;-3.54;-3.54	5.43	-1.46	0.08800	Calponin homology domain (5);	0.565478	0.15420	N	0.263280	D	0.83704	0.5312	N	0.17474	0.49	0.09310	N	0.999999	B;B;B	0.10296	0.003;0.002;0.001	B;B;B	0.10450	0.005;0.003;0.002	T	0.70525	-0.4848	10	0.32370	T	0.25	.	0.1393	0.00082	0.3373:0.2236:0.2014:0.2378	.	49;49;49	Q8WXH0;Q8WXH0-2;Q8WXH0-8	SYNE2_HUMAN;.;.	A	49	ENSP00000350719:T49A;ENSP00000341781:T49A;ENSP00000344528:T49A;ENSP00000348382:T49A;ENSP00000452570:T49A	ENSP00000261678:T49A	T	+	1	0	SYNE2	63478169	0.000000	0.05858	0.063000	0.19743	0.078000	0.17371	0.177000	0.16801	-0.248000	0.09583	-0.672000	0.03802	ACT		0.373	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2		NM_182914		7	42	0	0	0	0.004482	0	7	42		
PPP1R36	145376	broad.mit.edu	37	14	65031546	65031546	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr14:65031546C>T	ENST00000298705.1	+	4	356	c.260C>T	c.(259-261)gCt>gTt	p.A87V	RP11-973N13.3_ENST00000556634.1_RNA|RP11-973N13.3_ENST00000554454.1_RNA	NM_172365.1	NP_758953.1	Q96LQ0	PPR36_HUMAN	protein phosphatase 1, regulatory subunit 36	87					negative regulation of phosphatase activity (GO:0010923)		phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										GATGGTCCAGCTTCAGACAGG	0.408																																						uc001xhl.1		NaN																	0				skin(1)	1						c.(259-261)GCT>GTT		hypothetical protein LOC145376							225.0	227.0	226.0					14																	65031546		2203	4300	6503	SO:0001583	missense	145376							g.chr14:65031546C>T		CCDS9767.1	14q23.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000165807	ENSG00000165807		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20097	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 50"""	C14orf50			Standard	NM_172365		Approved		uc001xhl.1	Q96LQ0	OTTHUMG00000141316	ENST00000298705.1:c.260C>T	14.37:g.65031546C>T	ENSP00000298705:p.Ala87Val						p.A87V	NM_172365	NP_758953	Q96LQ0	CN050_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00382)|all cancers(60;0.00427)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	4	356	+			87					Q6NTH6	Missense_Mutation	SNP	ENST00000298705.1	37	c.260C>T	CCDS9767.1	.	.	.	.	.	.	.	.	.	.	C	14.54	2.565461	0.45694	.	.	ENSG00000165807	ENST00000298705	T	0.32515	1.45	5.9	5.9	0.94986	.	0.202673	0.34959	N	0.003546	T	0.40448	0.1117	M	0.65975	2.015	0.34006	D	0.650904	P	0.51351	0.944	P	0.48270	0.572	T	0.50320	-0.8842	10	0.23302	T	0.38	-10.5267	15.7724	0.78180	0.0:1.0:0.0:0.0	.	87	Q96LQ0	PPR36_HUMAN	V	87	ENSP00000298705:A87V	ENSP00000298705:A87V	A	+	2	0	C14orf50	64101299	0.765000	0.28485	0.902000	0.35471	0.192000	0.23643	3.913000	0.56394	2.793000	0.96121	0.563000	0.77884	GCT		0.408	PPP1R36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280667.1		NM_172365		41	67	0	0	0	0.00361	0	41	67		
PLEKHG3	26030	broad.mit.edu	37	14	65203599	65203599	+	Silent	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr14:65203599C>G	ENST00000394691.1	+	13	1521	c.1374C>G	c.(1372-1374)ctC>ctG	p.L458L	PLEKHG3_ENST00000484731.2_5'Flank|PLEKHG3_ENST00000247226.7_Silent_p.L402L|PLEKHG3_ENST00000471182.2_5'Flank			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	458				QGRRQSEPTKHLLRQLNEKARAAGMK -> KGAGPEPPGSE EEEEEQEESLAVAEQ (in Ref. 2; AAH04298). {ECO:0000305}.			Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		TCAGGCAACTCAACGAGAAAG	0.617																																						uc001xho.1		NaN																	0				skin(1)	1						c.(1372-1374)CTC>CTG		pleckstrin homology domain containing, family G,							56.0	52.0	53.0					14																	65203599		2203	4300	6503	SO:0001819	synonymous_variant	26030				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr14:65203599C>G	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20364	protein-coding gene	gene with protein product			"""KIAA0599"""	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.1374C>G	14.37:g.65203599C>G						PLEKHG3_uc001xhn.1_Silent_p.L402L|PLEKHG3_uc001xhp.2_Silent_p.L458L|PLEKHG3_uc010aqh.1_5'UTR|PLEKHG3_uc001xhq.1_5'Flank	p.L458L	NM_015549	NP_056364	A1L390	PKHG3_HUMAN		all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)	13	1643	+			458	QGRRQSEPTKHLLRQLNEKARAAGMK -> KGAGPEPPGSE EEEEEQEESLAVAEQ (in Ref. 2; AAH04298).				A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Silent	SNP	ENST00000394691.1	37	c.1374C>G																																																																																					0.617	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1		NM_015549		27	84	0	0	0	0.002836	0	27	84		
FUT8	2530	broad.mit.edu	37	14	66028339	66028339	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr14:66028339A>C	ENST00000360689.5	+	3	1785	c.58A>C	c.(58-60)Acc>Ccc	p.T20P	FUT8_ENST00000358307.2_Intron|FUT8_ENST00000557164.1_Intron|FUT8_ENST00000394585.1_Missense_Mutation_p.T20P|FUT8_ENST00000394586.2_Missense_Mutation_p.T20P	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	20					cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|GDP-L-fucose metabolic process (GO:0046368)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|L-fucose catabolic process (GO:0042355)|N-glycan fucosylation (GO:0036071)|N-glycan processing (GO:0006491)|oligosaccharide biosynthetic process (GO:0009312)|post-translational protein modification (GO:0043687)|protein glycosylation in Golgi (GO:0033578)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|receptor metabolic process (GO:0043112)|respiratory gaseous exchange (GO:0007585)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycoprotein 6-alpha-L-fucosyltransferase activity (GO:0008424)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		TGCCTGGGGGACCTTGCTGTT	0.473																																						uc001xin.2		NaN																	0				ovary(1)	1						c.(58-60)ACC>CCC		fucosyltransferase 8 isoform a							174.0	169.0	171.0					14																	66028339		2203	4300	6503	SO:0001583	missense	2530				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding	g.chr14:66028339A>C	AB049740	CCDS9775.1, CCDS9776.1, CCDS9776.2	14q24.3	2013-02-26			ENSG00000033170	ENSG00000033170		"""Fucosyltransferases"""	4019	protein-coding gene	gene with protein product		602589				9368041	Standard	NM_178155		Approved		uc001xio.3	Q9BYC5	OTTHUMG00000142818	ENST00000360689.5:c.58A>C	14.37:g.66028339A>C	ENSP00000353910:p.Thr20Pro					FUT8_uc001xio.2_Missense_Mutation_p.T20P|FUT8_uc010tsp.1_Intron|FUT8_uc001xir.3_RNA|FUT8_uc001xip.2_Missense_Mutation_p.T20P|FUT8_uc001xiq.2_Intron	p.T20P	NM_178155	NP_835368	Q9BYC5	FUT8_HUMAN		all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)	3	1255	+			20			Helical; Signal-anchor for type II membrane protein; (Potential).		B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Missense_Mutation	SNP	ENST00000360689.5	37	c.58A>C	CCDS9775.1	.	.	.	.	.	.	.	.	.	.	A	16.74	3.207044	0.58343	.	.	ENSG00000033170	ENST00000360689;ENST00000394586;ENST00000556518;ENST00000555559;ENST00000394585;ENST00000557338;ENST00000554610;ENST00000554667	T;T;T	0.24538	1.85;1.85;1.85	5.65	4.51	0.55191	.	0.000000	0.85682	D	0.000000	T	0.34803	0.0910	L	0.27053	0.805	0.80722	D	1	D	0.69078	0.997	D	0.75484	0.986	T	0.10064	-1.0646	10	0.62326	D	0.03	-3.6739	9.7376	0.40397	0.9183:0.0:0.0817:0.0	.	20	Q9BYC5	FUT8_HUMAN	P	20	ENSP00000353910:T20P;ENSP00000378087:T20P;ENSP00000378086:T20P	ENSP00000345865:T20P	T	+	1	0	FUT8	65098092	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	8.962000	0.93254	0.979000	0.38497	-0.250000	0.11733	ACC		0.473	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286406.1		NM_004480		70	52	0	0	0	0.00361	0	70	52		
ZFYVE26	23503	broad.mit.edu	37	14	68233024	68233024	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr14:68233024G>A	ENST00000347230.4	-	32	6069	c.5931C>T	c.(5929-5931)gaC>gaT	p.D1977D	ZFYVE26_ENST00000555452.1_Silent_p.D1977D	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1977					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GCTTCATGATGTCCGTGAGCA	0.587																																						uc001xka.2		NaN																	0				ovary(9)|breast(2)	11						c.(5929-5931)GAC>GAT		zinc finger, FYVE domain containing 26							78.0	77.0	77.0					14																	68233024		2203	4300	6503	SO:0001819	synonymous_variant	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68233024G>A	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.5931C>T	14.37:g.68233024G>A						ZFYVE26_uc010tsz.1_RNA|ZFYVE26_uc001xkc.3_Silent_p.D1977D	p.D1977D	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	32	6070	-			1977					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Silent	SNP	ENST00000347230.4	37	c.5931C>T	CCDS9788.1																																																																																				0.587	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2		NM_015346		45	128	0	0	0	0.00361	0	45	128		
HEATR4	399671	broad.mit.edu	37	14	73964942	73964942	+	Silent	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr14:73964942G>T	ENST00000553558.1	-	14	2784	c.2463C>A	c.(2461-2463)atC>atA	p.I821I	HEATR4_ENST00000334988.2_Silent_p.I821I|HEATR4_ENST00000560393.1_Silent_p.I774I	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	821										breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		TCAGGGCTAGGATGCTACGGC	0.537																																						uc010tub.1		NaN																	0				ovary(1)	1						c.(2461-2463)ATC>ATA		HEAT repeat containing 4							119.0	98.0	105.0					14																	73964942		2203	4300	6503	SO:0001819	synonymous_variant	399671							g.chr14:73964942G>T	BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.2463C>A	14.37:g.73964942G>T						HEATR4_uc010tua.1_Silent_p.I774I	p.I821I	NM_203309	NP_976054				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)	14	2785	-								B7Z7V9|E9KL41	Silent	SNP	ENST00000553558.1	37	c.2463C>A	CCDS9815.2																																																																																				0.537	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414422.2		NM_203309		29	22	1	0	4.65686e-17	0.003755	5.10945e-17	29	22		
ATXN3	4287	broad.mit.edu	37	14	92555135	92555135	+	Silent	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr14:92555135C>G	ENST00000532032.1	-	6	423	c.414G>C	c.(412-414)acG>acC	p.T138T	ATXN3_ENST00000340660.6_Silent_p.T83T|ATXN3_ENST00000502250.1_5'UTR|ATXN3_ENST00000554491.1_5'UTR|ATXN3_ENST00000503767.1_Silent_p.T123T|ATXN3_ENST00000393287.5_Silent_p.T138T|ATXN3_ENST00000429774.2_Silent_p.T123T|ATXN3_ENST00000545170.1_Silent_p.T138T			P54252	ATX3_HUMAN	ataxin 3	138	Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|cellular response to misfolded protein (GO:0071218)|intermediate filament cytoskeleton organization (GO:0045104)|microtubule cytoskeleton organization (GO:0000226)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|monoubiquitinated protein deubiquitination (GO:0035520)|nervous system development (GO:0007399)|nucleotide-excision repair (GO:0006289)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell-substrate adhesion (GO:0010810)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|Lys48-specific deubiquitinase activity (GO:1990380)|Lys63-specific deubiquitinase activity (GO:0061578)|omega peptidase activity (GO:0008242)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		ATTCTGGACCCGTCAAGAGAG	0.318																																					Esophageal Squamous(190;752 2094 29897 44875 49530)	uc001yac.3		NaN																	0					0						c.(412-414)ACG>ACC		ataxin 3 reference isoform							193.0	214.0	207.0					14																	92555135		2203	4300	6503	SO:0001819	synonymous_variant	4287				cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding	g.chr14:92555135C>G	U64820	CCDS9900.1, CCDS32143.1, CCDS45154.1, CCDS53908.1, CCDS73680.1	14q21	2014-09-17	2004-08-12	2004-08-13	ENSG00000066427	ENSG00000066427		"""Ataxins"""	7106	protein-coding gene	gene with protein product		607047	"""Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3)"""	SCA3, MJD		8358439	Standard	NM_004993		Approved	ATX3, JOS	uc001yac.4	P54252	OTTHUMG00000162212	ENST00000532032.1:c.414G>C	14.37:g.92555135C>G						ATXN3_uc010aug.2_Silent_p.T123T|ATXN3_uc001yad.3_Silent_p.T83T|ATXN3_uc010auh.2_Silent_p.T72T|ATXN3_uc001yae.3_Silent_p.T40T|ATXN3_uc010twl.1_RNA	p.T138T	NM_004993	NP_004984	P54252	ATX3_HUMAN		COAD - Colon adenocarcinoma(157;0.224)	6	483	-		all_cancers(154;0.0768)	138			Josephin.		A7LFZ5|D6RDL9|E9PB63|O15284|O15285|O15286|Q8N189|Q96TC3|Q96TC4|Q9H3N0	Silent	SNP	ENST00000532032.1	37	c.414G>C																																																																																					0.318	ATXN3-015	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000388065.1		NM_004993		59	43	0	0	0	0.00361	0	59	43		
BCL11B	64919	broad.mit.edu	37	14	99723962	99723962	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr14:99723962C>T	ENST00000357195.3	-	2	282	c.273G>A	c.(271-273)aaG>aaA	p.K91K	BCL11B_ENST00000443726.2_Intron|BCL11B_ENST00000345514.2_Silent_p.K91K	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	91					alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		TGTCCAGGGCCTTGTCATAGC	0.587			T	TLX3	T-ALL																																	uc001yga.2		NaN		Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		0				central_nervous_system(8)|large_intestine(1)|lung(1)	10						c.(271-273)AAG>AAA		B-cell CLL/lymphoma 11B isoform 1							74.0	74.0	74.0					14																	99723962		2203	4300	6503	SO:0001819	synonymous_variant	64919					nucleus	zinc ion binding	g.chr14:99723962C>T	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.273G>A	14.37:g.99723962C>T						BCL11B_uc001ygb.2_Silent_p.K91K	p.K91K	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	2	540	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	91					Q9H162	Silent	SNP	ENST00000357195.3	37	c.273G>A	CCDS9950.1																																																																																				0.587	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2		NM_138576		131	84	0	0	0	0.00361	0	131	84		
RTL1	388015	broad.mit.edu	37	14	101351019	101351019	+	Missense_Mutation	SNP	G	G	A	rs558479909		TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr14:101351019G>A	ENST00000534062.1	-	1	165	c.107C>T	c.(106-108)aCg>aTg	p.T36M	MIR433_ENST00000384837.1_RNA|MIR136_ENST00000385207.1_RNA|MIR432_ENST00000606207.1_RNA|MIR127_ENST00000384876.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	36					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)				breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						ACTGCCCGACGTCGCCTCGGT	0.587																																						uc010txj.1		NaN																	0				pancreas(1)	1						c.(106-108)ACG>ATG		retrotransposon-like 1							31.0	31.0	31.0					14																	101351019		1568	3582	5150	SO:0001583	missense	388015							g.chr14:101351019G>A		CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.107C>T	14.37:g.101351019G>A	ENSP00000435342:p.Thr36Met					uc010txk.1_5'Flank|MIR136_hsa-mir-136|MI0000475_5'Flank	p.T36M	NM_001134888	NP_001128360	A6NKG5	RTL1_HUMAN			1	166	-			36					E9PKS8	Missense_Mutation	SNP	ENST00000534062.1	37	c.107C>T	CCDS53910.1	.	.	.	.	.	.	.	.	.	.	G	3.521	-0.097710	0.07010	.	.	ENSG00000254656	ENST00000534062	T	0.23147	1.92	3.48	1.36	0.22044	.	.	.	.	.	T	0.14013	0.0339	N	0.24115	0.695	0.09310	N	1	B	0.24258	0.1	B	0.09377	0.004	T	0.22906	-1.0203	9	0.62326	D	0.03	.	3.3314	0.07085	0.1564:0.0:0.6009:0.2427	.	36	E9PKS8	.	M	36	ENSP00000435342:T36M	ENSP00000435342:T36M	T	-	2	0	RTL1	100420772	0.000000	0.05858	0.000000	0.03702	0.122000	0.20287	-0.239000	0.08965	0.336000	0.23639	0.561000	0.74099	ACG		0.587	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395127.1		NM_001134888		12	41	0	0	0	0.00499	0	12	41		
WDR20	91833	broad.mit.edu	37	14	102605682	102605682	+	5'Flank	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr14:102605682C>T	ENST00000342702.3	+	0	0				WDR20_ENST00000454394.2_5'Flank|HSP90AA1_ENST00000334701.7_Silent_p.R20R|WDR20_ENST00000335263.5_5'Flank|WDR20_ENST00000558567.1_5'Flank|WDR20_ENST00000299135.6_5'Flank|WDR20_ENST00000322340.5_5'Flank|HSP90AA1_ENST00000558600.1_5'UTR|WDR20_ENST00000556807.1_5'Flank|WDR20_ENST00000556511.2_5'Flank|WDR20_ENST00000424963.2_5'Flank|WDR20_ENST00000499851.2_5'Flank	NM_001242418.1|NM_144574.3	NP_001229347.1|NP_653175.2	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20											breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						CGGGACAGTCCCTGTCCCGAA	0.706																																						uc001ykv.3		NaN																	0				ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1)	7						c.(58-60)AGG>AGA		heat shock 90kDa protein 1, alpha isoform 1	Rifabutin(DB00615)						18.0	21.0	20.0					14																	102605682		2202	4297	6499	SO:0001631	upstream_gene_variant	3320				axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding	g.chr14:102605682C>T	BC028387	CCDS9968.1, CCDS9969.1, CCDS9970.1, CCDS55942.1, CCDS55943.1, CCDS55944.1, CCDS55945.1	14q32.31	2013-01-09				ENSG00000140153		"""WD repeat domain containing"""	19667	protein-coding gene	gene with protein product							Standard	NM_181291		Approved	DMR, MGC33177, FLJ33659	uc010txu.2	Q8TBZ3			14.37:g.102605682C>T	Exception_encountered					WDR20_uc001yky.1_5'Flank|WDR20_uc001yla.2_5'Flank|WDR20_uc001ykz.2_5'Flank|WDR20_uc001ylb.2_5'Flank|WDR20_uc010txu.1_5'Flank|WDR20_uc001ylc.2_5'Flank|WDR20_uc001yld.2_5'Flank|WDR20_uc001yle.2_5'Flank|WDR20_uc001ylf.2_5'Flank	p.R20R	NM_001017963	NP_001017963	P07900	HS90A_HUMAN			1	405	-			Error:Variant_position_missing_in_P07900_after_alignment					B4DN18|E7EUY8|F8W9S4|G3V2F8|G3V5R0|H0YJJ1|Q86TU2|Q8NCN7|Q8WXX2|Q9UF86	Silent	SNP	ENST00000342702.3	37	c.60G>A	CCDS9969.1																																																																																				0.706	WDR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414963.1		NM_181291		24	11	0	0	0	0.00333	0	24	11		
FMN1	342184	broad.mit.edu	37	15	33360066	33360066	+	Intron	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr15:33360066G>A	ENST00000559047.1	-	3	2043				FMN1_ENST00000334528.9_Missense_Mutation_p.S7F|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000559150.1_5'UTR|FMN1_ENST00000558197.1_Missense_Mutation_p.S7F			Q68DA7	FMN1_HUMAN	formin 1						actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		GCCATCCAGAGAATTATCAAC	0.468																																						uc001zhf.3		NaN																	0				ovary(1)	1						c.(19-21)TCT>TTT		formin 1							69.0	66.0	67.0					15																	33360066		1978	4171	6149	SO:0001627	intron_variant	342184				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding	g.chr15:33360066G>A	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2044-2791C>T	15.37:g.33360066G>A						FMN1_uc001zhg.2_Missense_Mutation_p.S7F	p.S7F	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	1	20	-		all_lung(180;1.14e-07)	Error:Variant_position_missing_in_Q68DA7_after_alignment					Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	ENST00000559047.1	37	c.20C>T		.	.	.	.	.	.	.	.	.	.	G	4.627	0.116521	0.08881	.	.	ENSG00000248905	ENST00000334528	T	0.41065	1.01	4.78	4.78	0.61160	.	.	.	.	.	T	0.51210	0.1661	.	.	.	.	.	.	D;D	0.58620	0.983;0.965	P;P	0.53809	0.735;0.568	T	0.66069	-0.6015	7	0.72032	D	0.01	.	10.3887	0.44156	0.0:0.0:0.8047:0.1953	.	7;7	Q68DA7-3;Q68DA7-5	.;.	F	7	ENSP00000333950:S7F	ENSP00000333950:S7F	S	-	2	0	FMN1	31147358	0.006000	0.16342	0.029000	0.17559	0.024000	0.10985	1.566000	0.36396	2.468000	0.83385	0.655000	0.94253	TCT		0.468	FMN1-005	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000417414.1		NM_001103184		8	26	0	0	0	0.008291	0	8	26		
ACTC1	70	broad.mit.edu	37	15	35084467	35084467	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr15:35084467A>G	ENST00000290378.4	-	5	1287	c.632T>C	c.(631-633)gTc>gCc	p.V211A	RP11-814P5.1_ENST00000558707.1_RNA|RP11-814P5.1_ENST00000503496.1_RNA|ACTC1_ENST00000557860.1_5'UTR	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	211					actin filament-based movement (GO:0030048)|actin-myosin filament sliding (GO:0033275)|actomyosin structure organization (GO:0031032)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cardiac muscle contraction (GO:0060048)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|heart contraction (GO:0060047)|muscle filament sliding (GO:0030049)|negative regulation of apoptotic process (GO:0043066)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|skeletal muscle thin filament assembly (GO:0030240)	actin filament (GO:0005884)|actomyosin, actin portion (GO:0042643)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|I band (GO:0031674)|membrane (GO:0016020)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|myosin binding (GO:0017022)			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		AATGTCACGGACAATTTCACG	0.468																																						uc001ziu.1		NaN																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(631-633)GTC>GCC		cardiac muscle alpha actin 1 proprotein							65.0	63.0	64.0					15																	35084467		2201	4298	6499	SO:0001583	missense	70				apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding	g.chr15:35084467A>G	BC009978	CCDS10041.1	15q14	2014-09-17	2006-08-24	2006-08-24	ENSG00000159251	ENSG00000159251			143	protein-coding gene	gene with protein product		102540	"""actin, alpha, cardiac muscle"""	ACTC		1639426	Standard	NM_005159		Approved	CMD1R	uc001ziu.1	P68032	OTTHUMG00000129675	ENST00000290378.4:c.632T>C	15.37:g.35084467A>G	ENSP00000290378:p.Val211Ala					uc001zit.1_Intron	p.V211A	NM_005159	NP_005150	P68032	ACTC_HUMAN		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)	5	875	-		all_lung(180;2.3e-08)	211					P04270	Missense_Mutation	SNP	ENST00000290378.4	37	c.632T>C	CCDS10041.1	.	.	.	.	.	.	.	.	.	.	A	14.73	2.621681	0.46736	.	.	ENSG00000159251	ENST00000290378;ENST00000544062	D	0.95137	-3.62	4.94	4.94	0.65067	.	0.000000	0.47093	U	0.000260	D	0.95950	0.8681	M	0.88105	2.93	0.58432	D	0.999996	B	0.22146	0.065	B	0.36666	0.23	D	0.95496	0.8573	10	0.87932	D	0	.	15.0473	0.71838	1.0:0.0:0.0:0.0	.	211	P68032	ACTC_HUMAN	A	211;176	ENSP00000290378:V211A	ENSP00000290378:V211A	V	-	2	0	ACTC1	32871759	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.139000	0.94554	2.206000	0.71126	0.533000	0.62120	GTC		0.468	ACTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251876.3		NM_005159		12	8	0	0	0	0.001855	0	12	8		
MYO5C	55930	broad.mit.edu	37	15	52534274	52534274	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr15:52534274C>A	ENST00000261839.7	-	20	2688	c.2527G>T	c.(2527-2529)Gga>Tga	p.G843*	MYO5C_ENST00000443683.2_Intron	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	843	IQ 4. {ECO:0000255|PROSITE- ProRule:PRU00116}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		GCCAGGAATCCTCGGCTGTAG	0.547																																						uc010bff.2		NaN																	0				ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2)	14						c.(2527-2529)GGA>TGA		myosin VC							206.0	206.0	206.0					15																	52534274		2028	4190	6218	SO:0001587	stop_gained	55930					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr15:52534274C>A	AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.2527G>T	15.37:g.52534274C>A	ENSP00000261839:p.Gly843*					MYO5C_uc010uga.1_Intron|MYO5C_uc010ugb.1_Intron	p.G843*	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN		all cancers(107;0.0137)	20	2664	-			843			IQ 4.		Q6P1W8	Nonsense_Mutation	SNP	ENST00000261839.7	37	c.2527G>T	CCDS42036.1	.	.	.	.	.	.	.	.	.	.	C	40	8.090545	0.98648	.	.	ENSG00000128833	ENST00000261839	.	.	.	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	18.3636	0.90383	0.0:1.0:0.0:0.0	.	.	.	.	X	843	.	ENSP00000261839:G843X	G	-	1	0	MYO5C	50321566	1.000000	0.71417	0.814000	0.32528	0.241000	0.25554	7.317000	0.79018	2.651000	0.90000	0.650000	0.86243	GGA		0.547	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1		NM_018728		93	100	1	0	1.44639e-49	0.00361	1.67251e-49	93	100		
PIGB	9488	broad.mit.edu	37	15	55632964	55632964	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr15:55632964C>T	ENST00000164305.5	+	8	1292	c.1001C>T	c.(1000-1002)gCa>gTa	p.A334V	PIGB_ENST00000539642.1_Missense_Mutation_p.A139V|CCPG1_ENST00000563294.1_Intron	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B	334					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		TGCTATCTAGCACCAAAGAGA	0.378																																						uc002act.2		NaN																	0					0						c.(1000-1002)GCA>GTA		phosphatidylinositol glycan, class B							87.0	83.0	84.0					15																	55632964		1878	4118	5996	SO:0001583	missense	9488				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity	g.chr15:55632964C>T	D42138	CCDS61641.1	15q21.3	2013-02-26	2006-06-28		ENSG00000069943	ENSG00000069943		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	8959	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 3"", ""dol-P-Man dependent GPI mannosyltransferase"""	604122	"""phosphatidylinositol glycan, class B"""			8861954	Standard	NM_004855		Approved		uc002act.3	Q92521	OTTHUMG00000172654	ENST00000164305.5:c.1001C>T	15.37:g.55632964C>T	ENSP00000164305:p.Ala334Val					PIGB_uc010ugg.1_Missense_Mutation_p.A139V	p.A334V	NM_004855	NP_004846	Q92521	PIGB_HUMAN		all cancers(107;0.0255)	8	1317	+			334			Helical; (Potential).		Q53FF9|Q8WVN7	Missense_Mutation	SNP	ENST00000164305.5	37	c.1001C>T		.	.	.	.	.	.	.	.	.	.	C	16.08	3.021601	0.54576	.	.	ENSG00000069943	ENST00000164305;ENST00000539642	T;T	0.63580	-0.05;-0.05	5.94	5.94	0.96194	.	0.160714	0.56097	D	0.000037	T	0.60392	0.2265	L	0.50333	1.59	0.80722	D	1	B	0.19935	0.04	B	0.32211	0.142	T	0.55114	-0.8191	10	0.08381	T	0.77	-4.003	19.3473	0.94370	0.0:1.0:0.0:0.0	.	334	Q92521	PIGB_HUMAN	V	334;139	ENSP00000164305:A334V;ENSP00000438963:A139V	ENSP00000164305:A334V	A	+	2	0	PIGB	53420256	1.000000	0.71417	0.973000	0.42090	0.930000	0.56654	7.200000	0.77838	2.816000	0.96949	0.561000	0.74099	GCA		0.378	PIGB-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000419687.1		NM_004855		4	5	0	0	0	0.000602	0	4	5		
MYO1E	4643	broad.mit.edu	37	15	59548521	59548521	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr15:59548521G>A	ENST00000288235.4	-	4	693	c.294C>T	c.(292-294)aaC>aaT	p.N98N	MYO1E_ENST00000558814.1_5'UTR	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	98	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		CAATGATCATGTTTCTGTACA	0.348																																						uc002aga.2		NaN																	0				central_nervous_system(3)	3						c.(292-294)AAC>AAT		myosin IE							159.0	139.0	146.0					15																	59548521		2190	4290	6480	SO:0001819	synonymous_variant	4643				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity	g.chr15:59548521G>A	U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"""Myosins / Myosin superfamily : Class I"""	7599	protein-coding gene	gene with protein product	"""myosin-IC"""	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.294C>T	15.37:g.59548521G>A							p.N98N	NM_004998	NP_004989	Q12965	MYO1E_HUMAN		all cancers(107;0.207)	4	666	-			98			Myosin head-like.		Q14778	Silent	SNP	ENST00000288235.4	37	c.294C>T	CCDS32254.1																																																																																				0.348	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416024.1		NM_004998		10	26	0	0	0	0.001855	0	10	26		
PPCDC	60490	broad.mit.edu	37	15	75336745	75336745	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr15:75336745G>A	ENST00000342932.3	+	4	394	c.250G>A	c.(250-252)Gac>Aac	p.D84N	PPCDC_ENST00000563393.1_5'UTR|PPCDC_ENST00000567336.1_Missense_Mutation_p.D52N|PPCDC_ENST00000564923.1_Intron|PPCDC_ENST00000568649.1_Intron	NM_021823.3	NP_068595.3	Q96CD2	COAC_HUMAN	phosphopantothenoylcysteine decarboxylase	84					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	phosphopantothenoylcysteine decarboxylase activity (GO:0004633)			breast(1)|cervix(1)	2						GAGCCGCTCTGACCCAGTTCT	0.587																																						uc002azo.2		NaN																	0					0						c.(250-252)GAC>AAC		phosphopantothenoylcysteine decarboxylase							120.0	99.0	106.0					15																	75336745		2197	4295	6492	SO:0001583	missense	60490				coenzyme A biosynthetic process|pantothenate metabolic process	cytosol	phosphopantothenoylcysteine decarboxylase activity	g.chr15:75336745G>A	AK027491	CCDS10275.1, CCDS73761.1, CCDS73759.1, CCDS73760.1	15q24.2	2005-08-16			ENSG00000138621	ENSG00000138621	4.1.1.36		28107	protein-coding gene	gene with protein product		609854				12975309, 11923312	Standard	XM_005254579		Approved	MDS018, FLJ14585	uc002azo.3	Q96CD2	OTTHUMG00000142824	ENST00000342932.3:c.250G>A	15.37:g.75336745G>A	ENSP00000343190:p.Asp84Asn						p.D84N	NM_021823	NP_068595	Q96CD2	COAC_HUMAN			4	363	+			84					Q96SX0|Q9HC17	Missense_Mutation	SNP	ENST00000342932.3	37	c.250G>A	CCDS10275.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.959650	0.74016	.	.	ENSG00000138621	ENST00000342932	T	0.51817	0.69	5.44	4.5	0.54988	Flavoprotein (3);	0.000000	0.85682	D	0.000000	T	0.67021	0.2849	M	0.70108	2.13	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.71111	-0.4687	10	0.72032	D	0.01	-24.0631	14.3982	0.67025	0.0:0.0:0.8514:0.1486	.	84	Q96CD2	COAC_HUMAN	N	84	ENSP00000343190:D84N	ENSP00000343190:D84N	D	+	1	0	PPCDC	73123798	1.000000	0.71417	0.832000	0.32986	0.647000	0.38526	9.228000	0.95250	1.244000	0.43870	0.561000	0.74099	GAC		0.587	PPCDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286416.1		NM_021823		44	36	0	0	0	0.00361	0	44	36		
MTHFS	10588	broad.mit.edu	37	15	80137594	80137594	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr15:80137594C>A	ENST00000258874.3	-	3	630	c.570G>T	c.(568-570)atG>atT	p.M190I	ST20-MTHFS_ENST00000494999.1_5'Flank|RP11-38G5.4_ENST00000567415.1_lincRNA|ST20-MTHFS_ENST00000479961.1_Missense_Mutation_p.M166I	NM_006441.3	NP_006432.1	P49914	MTHFS_HUMAN	5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)	190					formate metabolic process (GO:0015942)|tetrahydrofolate metabolic process (GO:0046653)	cytoplasm (GO:0005737)	5-formyltetrahydrofolate cyclo-ligase activity (GO:0030272)|ATP binding (GO:0005524)|folic acid binding (GO:0005542)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(1)|liver(1)	5				all cancers(203;0.00467)		CATCTACCTTCATGTCGTTTT	0.428																																						uc002bex.3		NaN																	0					0						c.(568-570)ATG>ATT		5,10-methenyltetrahydrofolate synthetase							156.0	139.0	145.0					15																	80137594		2203	4300	6503	SO:0001583	missense	10588				folic acid-containing compound biosynthetic process|formate metabolic process|tetrahydrofolate metabolic process	cytosol|Golgi apparatus|plasma membrane	5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|folic acid binding	g.chr15:80137594C>A	L38928	CCDS10311.1	15q24.3	2014-05-15			ENSG00000136371	ENSG00000136371	6.3.3.2		7437	protein-coding gene	gene with protein product		604197				8522195	Standard	NM_006441		Approved	HsT19268	uc002bex.4	P49914	OTTHUMG00000144174	ENST00000258874.3:c.570G>T	15.37:g.80137594C>A	ENSP00000258874:p.Met190Ile					MTHFS_uc002bey.2_RNA	p.M190I	NM_006441	NP_006432	P49914	MTHFS_HUMAN		all cancers(203;0.00467)	3	610	-			190					H3BQ75	Missense_Mutation	SNP	ENST00000258874.3	37	c.570G>T	CCDS10311.1	.	.	.	.	.	.	.	.	.	.	c	8.140	0.785021	0.16189	.	.	ENSG00000136371	ENST00000258874	T	0.39229	1.09	6.03	5.12	0.69794	5-formyltetrahydrofolate cyclo-ligase-like domain (1);	0.437854	0.29424	N	0.012190	T	0.20007	0.0481	N	0.10945	0.07	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.20273	-1.0280	10	0.02654	T	1	-8.0747	10.752	0.46216	0.2311:0.5393:0.2296:0.0	.	190	P49914	MTHFS_HUMAN	I	190	ENSP00000258874:M190I	ENSP00000258874:M190I	M	-	3	0	MTHFS	77924649	0.948000	0.32251	0.137000	0.22149	0.971000	0.66376	0.499000	0.22546	1.569000	0.49696	-0.121000	0.15023	ATG		0.428	MTHFS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291374.2		NM_006441		9	50	1	0	1.33987e-11	0.008291	1.44061e-11	9	50		
ARNT2	9915	broad.mit.edu	37	15	80872758	80872758	+	Silent	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr15:80872758A>G	ENST00000303329.4	+	16	1785	c.1620A>G	c.(1618-1620)tcA>tcG	p.S540S	hsa-mir-5572_ENST00000583188.1_RNA|RP11-379K22.3_ENST00000603875.1_RNA|ARNT2_ENST00000533983.1_Silent_p.S529S|ARNT2_ENST00000527771.1_Silent_p.S529S	NM_014862.3	NP_055677.3	Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	540					central nervous system development (GO:0007417)|in utero embryonic development (GO:0001701)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	aryl hydrocarbon receptor binding (GO:0017162)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			CTAGCTCTTCAGTGGTTCATG	0.512																																						uc002bfr.2		NaN																	0				central_nervous_system(3)|ovary(1)|pancreas(1)	5						c.(1618-1620)TCA>TCG		aryl hydrocarbon receptor nuclear translocator							194.0	182.0	186.0					15																	80872758		2203	4300	6503	SO:0001819	synonymous_variant	9915				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr15:80872758A>G	AB002305	CCDS32307.1	15q25.1	2013-05-21			ENSG00000172379	ENSG00000172379		"""Basic helix-loop-helix proteins"""	16876	protein-coding gene	gene with protein product		606036				11247670	Standard	NM_014862		Approved	KIAA0307, bHLHe1	uc002bfr.3	Q9HBZ2	OTTHUMG00000165478	ENST00000303329.4:c.1620A>G	15.37:g.80872758A>G						ARNT2_uc010unm.1_Silent_p.S529S|ARNT2_uc002bfs.2_Silent_p.S529S	p.S540S	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.134)		16	1786	+			540					B4DIS7|O15024|Q8IYC2	Silent	SNP	ENST00000303329.4	37	c.1620A>G	CCDS32307.1																																																																																				0.512	ARNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384389.2				23	92	0	0	0	0.00632	0	23	92		
SV2B	9899	broad.mit.edu	37	15	91769791	91769791	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr15:91769791G>T	ENST00000394232.1	+	2	768	c.298G>T	c.(298-300)Gat>Tat	p.D100Y	SV2B_ENST00000557291.1_Intron|SV2B_ENST00000330276.4_Missense_Mutation_p.D100Y|SV2B_ENST00000545111.2_Intron	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	100					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GACCATCATGGATGAGTGTGG	0.587																																						uc002bqv.2		NaN																	0				ovary(3)|central_nervous_system(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(298-300)GAT>TAT		synaptic vesicle protein 2B homolog							118.0	98.0	105.0					15																	91769791		2198	4298	6496	SO:0001583	missense	9899				neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	g.chr15:91769791G>T	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.298G>T	15.37:g.91769791G>T	ENSP00000377779:p.Asp100Tyr					SV2B_uc002bqt.2_Missense_Mutation_p.D100Y|SV2B_uc010uqv.1_Intron|SV2B_uc002bqu.3_RNA	p.D100Y	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0895)		1	689	+	Lung NSC(78;0.0987)|all_lung(78;0.172)		100			Cytoplasmic (Potential).		B4DH30|C6G489|O94840|Q6IAR8	Missense_Mutation	SNP	ENST00000394232.1	37	c.298G>T	CCDS10370.1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.605823	0.66445	.	.	ENSG00000185518	ENST00000394232;ENST00000330276	T;T	0.60299	0.2;0.2	5.63	5.63	0.86233	Major facilitator superfamily domain, general substrate transporter (1);	0.341802	0.37393	N	0.002103	T	0.60881	0.2303	L	0.43152	1.355	0.45490	D	0.998456	P	0.41643	0.758	P	0.49477	0.612	T	0.63269	-0.6675	10	0.72032	D	0.01	-5.1102	13.9235	0.63948	0.0:0.1524:0.8476:0.0	.	100	Q7L1I2	SV2B_HUMAN	Y	100	ENSP00000377779:D100Y;ENSP00000332818:D100Y	ENSP00000332818:D100Y	D	+	1	0	SV2B	89570795	1.000000	0.71417	0.212000	0.23672	0.988000	0.76386	3.092000	0.50207	2.657000	0.90304	0.563000	0.77884	GAT		0.587	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313494.3		NM_014848		14	33	1	0	4.36969e-10	0.001855	4.61723e-10	14	33		
IL32	9235	broad.mit.edu	37	16	3119252	3119252	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr16:3119252C>T	ENST00000534507.1	+	6	812	c.601C>T	c.(601-603)Ctg>Ttg	p.L201L	RNU1-125P_ENST00000516752.1_RNA|IL32_ENST00000551513.1_Silent_p.L192L|IL32_ENST00000396887.3_Intron|IL32_ENST00000530538.2_Silent_p.L155L|IL32_ENST00000526464.2_Silent_p.L155L|IL32_ENST00000008180.9_Silent_p.L135L|IL32_ENST00000529550.1_Silent_p.L155L|IL32_ENST00000548246.1_Silent_p.L115L|IL32_ENST00000533097.2_Silent_p.L155L|IL32_ENST00000551122.1_Intron|IL32_ENST00000548476.1_Silent_p.L201L|IL32_ENST00000444393.3_Silent_p.L155L|IL32_ENST00000396890.2_Silent_p.L201L|IL32_ENST00000525643.2_Silent_p.L155L|IL32_ENST00000552356.1_Silent_p.L135L|IL32_ENST00000382213.3_Silent_p.L146L|IL32_ENST00000552936.1_Silent_p.L179L|IL32_ENST00000530890.1_Silent_p.L135L|IL32_ENST00000552664.1_Silent_p.L155L|IL32_ENST00000440815.3_Silent_p.L155L|IL32_ENST00000528163.2_Silent_p.L155L|IL32_ENST00000549213.1_Intron|IL32_ENST00000529699.1_Silent_p.L135L|IL32_ENST00000325568.5_Silent_p.L155L|IL32_ENST00000548652.1_Silent_p.L146L|IL32_ENST00000531965.1_Silent_p.L145L			P24001	IL32_HUMAN	interleukin 32	201					cell adhesion (GO:0007155)|defense response (GO:0006952)|immune response (GO:0006955)	extracellular space (GO:0005615)|membrane (GO:0016020)				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CTGCTGCTCTCTGTCAGAGCT	0.592																																						uc002cto.2		NaN																	0				pancreas(1)	1						c.(601-603)CTG>TTG		interleukin 32 isoform B							97.0	116.0	110.0					16																	3119252		2197	4300	6497	SO:0001819	synonymous_variant	9235				cell adhesion|defense response|immune response	extracellular space	cytokine activity	g.chr16:3119252C>T	M59807	CCDS32377.1, CCDS32378.1, CCDS32379.1, CCDS45394.1	16p13.3	2011-07-21			ENSG00000008517	ENSG00000008517		"""Interleukins and interleukin receptors"""	16830	protein-coding gene	gene with protein product	"""natural killer cell transcript 4"""	606001				1729377, 9653642	Standard	XM_005255686		Approved	NK4, TAIF, TAIFb, TAIFd	uc002ctn.3	P24001	OTTHUMG00000167498	ENST00000534507.1:c.601C>T	16.37:g.3119252C>T						IL32_uc002ctk.2_Intron|IL32_uc010uwp.1_Silent_p.L135L|IL32_uc010btb.2_Silent_p.L145L|IL32_uc002ctl.2_Silent_p.L155L|IL32_uc002ctm.2_Silent_p.L155L|IL32_uc002ctn.2_Silent_p.L155L|IL32_uc002cts.3_Silent_p.L155L|IL32_uc002ctp.2_Silent_p.L135L|IL32_uc002ctq.2_Silent_p.L201L|IL32_uc002ctr.2_Silent_p.L135L|IL32_uc002ctt.2_Silent_p.L155L|IL32_uc010uwr.1_Silent_p.L115L|IL32_uc002ctu.2_Silent_p.L146L	p.L201L	NM_004221	NP_004212	P24001	IL32_HUMAN			6	812	+			201					A6NNM0|A8MPX0|B4DJM1|B8Q191|D3DUB0|D3DUB2|Q5VFH7|Q5VFH8|Q8WV38|Q96GK9	Silent	SNP	ENST00000534507.1	37	c.601C>T																																																																																					0.592	IL32-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000394812.2		NM_004221		11	62	0	0	0	0.000978	0	11	62		
CREBBP	1387	broad.mit.edu	37	16	3900861	3900861	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08			C	T	C	C		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq;WGS			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr16:3900861C>T	ENST00000262367.5	-	2	1044	c.235G>A	c.(235-237)Ggc>Agc	p.G79S	CREBBP_ENST00000382070.3_Missense_Mutation_p.G79S	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	79					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ATACTAGAGCCGCTGCCTCCT	0.542			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																															uc002cvv.2		NaN		Dom/Rec	yes		16	16p13.3	1387	T|N|F|Mis|O	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL 		0				haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127						c.(235-237)GGC>AGC		CREB binding protein isoform a							64.0	62.0	63.0					16																	3900861		2197	4300	6497	SO:0001583	missense	1387	Rubinstein-Taybi_syndrome			cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3900861C>T	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.235G>A	16.37:g.3900861C>T	ENSP00000262367:p.Gly79Ser					CREBBP_uc002cvw.2_Missense_Mutation_p.G79S	p.G79S	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	2	439	-		Ovarian(90;0.0266)	79					D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	c.235G>A	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	C	10.02	1.236573	0.22711	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	D;D	0.82081	-1.55;-1.57	5.87	0.531	0.17108	.	0.266513	0.33401	N	0.004941	T	0.56543	0.1992	N	0.14661	0.345	0.36451	D	0.866061	B;P	0.35401	0.112;0.499	B;B	0.28232	0.087;0.072	T	0.60357	-0.7279	10	0.02654	T	1	-9.1577	5.873	0.18814	0.1229:0.5997:0.0:0.2774	.	147;79	Q4LE28;Q92793	.;CBP_HUMAN	S	79;147;79	ENSP00000262367:G79S;ENSP00000371502:G79S	ENSP00000262367:G79S	G	-	1	0	CREBBP	3840862	0.510000	0.26171	0.292000	0.24919	0.580000	0.36256	0.413000	0.21148	-0.103000	0.12175	-0.770000	0.03390	GGC		0.542	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2		NM_004380		21	62	0	0	0	0.002299	0	21	62		
MYH11	4629	broad.mit.edu	37	16	15818266	15818266	+	Splice_Site	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr16:15818266G>C	ENST00000300036.5	-	31	4226	c.4117C>G	c.(4117-4119)Ctc>Gtc	p.L1373V	MYH11_ENST00000452625.2_Splice_Site_p.L1380V|NDE1_ENST00000342673.5_3'UTR|NDE1_ENST00000396355.1_3'UTR|NDE1_ENST00000396354.1_3'UTR|MYH11_ENST00000576790.2_Splice_Site_p.L1373V|AF001548.5_ENST00000574212.1_RNA|MYH11_ENST00000396324.3_Splice_Site_p.L1380V|NDE1_ENST00000571896.1_3'UTR	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1373					axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GAGTCGGAGAGCTACAAGGAC	0.582			T	CBFB	AML																																	uc002ddy.2		NaN		Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0				ovary(6)|skin(3)|lung(2)|breast(2)|upper_aerodigestive_tract(1)|pancreas(1)	15						c.(4117-4119)CTC>GTC		smooth muscle myosin heavy chain 11 isoform							46.0	40.0	42.0					16																	15818266		2197	4299	6496	SO:0001630	splice_region_variant	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15818266G>C	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.4117-1C>G	16.37:g.15818266G>C						MYH11_uc002ddv.2_Missense_Mutation_p.L1380V|MYH11_uc002ddw.2_Missense_Mutation_p.L1373V|MYH11_uc002ddx.2_Missense_Mutation_p.L1380V|MYH11_uc010bvg.2_Missense_Mutation_p.L1205V|NDE1_uc010uzy.1_3'UTR|NDE1_uc002dds.2_3'UTR|MYH11_uc010bvh.2_Missense_Mutation_p.L79V|NDE1_uc002ddz.1_RNA	p.L1373V	NM_002474	NP_002465	P35749	MYH11_HUMAN			31	4224	-			1373			Potential.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.4117C>G	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.373634	0.24857	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	5.17	5.17	0.71159	Myosin tail (1);	0.000000	0.64402	D	0.000001	T	0.68550	0.3013	N	0.17922	0.545	0.80722	D	1	B;B;B;B;B	0.22983	0.078;0.078;0.078;0.078;0.035	B;B;B;B;B	0.37888	0.26;0.168;0.168;0.168;0.107	T	0.61192	-0.7112	10	0.02654	T	1	.	17.6819	0.88246	0.0:0.0:1.0:0.0	.	1380;1373;1380;1373;1380	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	V	1373;1373;1380;1380;1380	ENSP00000300036:L1373V;ENSP00000345136:L1373V;ENSP00000379616:L1380V;ENSP00000407821:L1380V	ENSP00000300036:L1373V	L	-	1	0	MYH11	15725767	1.000000	0.71417	1.000000	0.80357	0.250000	0.25880	3.345000	0.52182	2.403000	0.81681	0.655000	0.94253	CTC		0.582	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2		NM_001040113	Missense_Mutation	14	45	0	0	0	0.004007	0	14	45		
RPGRIP1L	23322	broad.mit.edu	37	16	53698905	53698905	+	Missense_Mutation	SNP	G	G	C	rs200773352	byFrequency	TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr16:53698905G>C	ENST00000379925.3	-	10	1170	c.1120C>G	c.(1120-1122)Cat>Gat	p.H374D	RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.H374D|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.H374D|RPGRIP1L_ENST00000262135.4_Missense_Mutation_p.H374D	NM_015272.2	NP_056087.2	Q68CZ1	FTM_HUMAN	RPGRIP1-like	374					camera-type eye development (GO:0043010)|cerebellum development (GO:0021549)|cilium assembly (GO:0042384)|corpus callosum development (GO:0022038)|determination of left/right symmetry (GO:0007368)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment or maintenance of cell polarity (GO:0007163)|head development (GO:0060322)|in utero embryonic development (GO:0001701)|kidney development (GO:0001822)|lateral ventricle development (GO:0021670)|liver development (GO:0001889)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|neural tube patterning (GO:0021532)|nose development (GO:0043584)|olfactory bulb development (GO:0021772)|pericardium development (GO:0060039)|regulation of smoothened signaling pathway (GO:0008589)	axoneme (GO:0005930)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	thromboxane A2 receptor binding (GO:0031870)			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TGCTCTTCATGGGCAGCACTG	0.438																																						uc002ehp.2		NaN																	0				ovary(1)	1						c.(1120-1122)CAT>GAT		RPGRIP1-like isoform a							93.0	85.0	88.0					16																	53698905		2198	4300	6498	SO:0001583	missense	23322				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	g.chr16:53698905G>C		CCDS32447.1, CCDS45486.1	16q12.2	2014-09-17				ENSG00000103494			29168	protein-coding gene	gene with protein product	"""fantom homolog"", ""Meckel syndrome, type 5"", ""protein phosphatase 1, regulatory subunit 134"""	610937				10231032	Standard	NM_015272		Approved	KIAA1005, CORS3, JBTS7, MKS5, NPHP8, FTM, PPP1R134	uc002ehp.3	Q68CZ1		ENST00000379925.3:c.1120C>G	16.37:g.53698905G>C	ENSP00000369257:p.His374Asp					RPGRIP1L_uc002eho.3_Missense_Mutation_p.H374D|RPGRIP1L_uc010vgy.1_Missense_Mutation_p.H374D|RPGRIP1L_uc010cbx.2_Missense_Mutation_p.H374D|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.H374D	p.H374D	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN			10	1184	-		all_cancers(37;0.0973)	374			Potential.		A0PJ88|Q9Y2K8	Missense_Mutation	SNP	ENST00000379925.3	37	c.1120C>G	CCDS32447.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.282968	0.23392	.	.	ENSG00000103494	ENST00000379925;ENST00000262135	D;D	0.89485	-2.52;-2.52	5.36	5.36	0.76844	.	0.282486	0.40728	N	0.001027	D	0.84097	0.5397	L	0.36672	1.1	0.80722	D	1	B;B;B;B	0.31383	0.06;0.06;0.06;0.321	B;B;B;B	0.29267	0.034;0.021;0.021;0.1	T	0.80480	-0.1364	10	0.16420	T	0.52	-4.2892	19.4399	0.94815	0.0:0.0:1.0:0.0	.	374;374;374;374	B4E3M8;B7ZKJ9;Q68CZ1;Q68CZ1-2	.;.;FTM_HUMAN;.	D	374	ENSP00000369257:H374D;ENSP00000262135:H374D	ENSP00000262135:H374D	H	-	1	0	RPGRIP1L	52256406	1.000000	0.71417	0.995000	0.50966	0.986000	0.74619	7.395000	0.79876	2.672000	0.90937	0.655000	0.94253	CAT		0.438	RPGRIP1L-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422187.1		NM_015272		15	17	0	0	0	0.006122	0	15	17		
GPR56	9289	broad.mit.edu	37	16	57685350	57685350	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr16:57685350A>T	ENST00000388812.4	+	3	743	c.303A>T	c.(301-303)ttA>ttT	p.L101F	GPR56_ENST00000540164.2_Missense_Mutation_p.L101F|GPR56_ENST00000568908.1_Missense_Mutation_p.L101F|GPR56_ENST00000538815.1_Missense_Mutation_p.L101F|GPR56_ENST00000388813.5_Missense_Mutation_p.L101F|GPR56_ENST00000562631.1_Missense_Mutation_p.L101F|GPR56_ENST00000567835.1_Missense_Mutation_p.L101F|GPR56_ENST00000562558.1_Missense_Mutation_p.L101F|GPR56_ENST00000568909.1_Missense_Mutation_p.L101F|GPR56_ENST00000456916.1_Missense_Mutation_p.L101F|GPR56_ENST00000379694.4_Intron|GPR56_ENST00000379696.3_Missense_Mutation_p.L101F|GPR56_ENST00000564912.1_3'UTR|GPR56_ENST00000544297.1_5'UTR			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	101					angiogenesis (GO:0001525)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cerebral cortex radial glia guided migration (GO:0021801)|G-protein coupled receptor signaling pathway (GO:0007186)|layer formation in cerebral cortex (GO:0021819)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron migration (GO:2001223)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cell adhesion (GO:0045785)|positive regulation of Rho protein signal transduction (GO:0035025)|protein kinase C signaling (GO:0070528)|Rho protein signal transduction (GO:0007266)|vascular endothelial growth factor production (GO:0010573)	extracellular vesicular exosome (GO:0070062)|glial limiting end-foot (GO:0097451)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						CTGGGAGATTACATCTTCTCT	0.602																																						uc002emb.2		NaN																	0					0						c.(301-303)TTA>TTT		G protein-coupled receptor 56 isoform a							144.0	138.0	140.0					16																	57685350		2198	4300	6498	SO:0001583	missense	9289				brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity	g.chr16:57685350A>T	AJ011001	CCDS32460.1, CCDS32461.1, CCDS73893.1	16q13	2014-08-08				ENSG00000205336		"""-"", ""GPCR / Class B : Orphans"""	4512	protein-coding gene	gene with protein product		604110				10049584, 10100861	Standard	XM_005256237		Approved	TM7LN4, TM7XN1	uc002emb.2	Q9Y653		ENST00000388812.4:c.303A>T	16.37:g.57685350A>T	ENSP00000373464:p.Leu101Phe					GPR56_uc002elz.1_Intron|GPR56_uc002ema.1_5'UTR|GPR56_uc002emc.2_Missense_Mutation_p.L101F|GPR56_uc002emf.2_Missense_Mutation_p.L101F|GPR56_uc010vhs.1_Missense_Mutation_p.L101F|GPR56_uc002emd.2_Missense_Mutation_p.L101F|GPR56_uc002eme.2_Missense_Mutation_p.L101F|GPR56_uc010vht.1_Missense_Mutation_p.L106F|GPR56_uc002emg.3_Missense_Mutation_p.L101F|GPR56_uc010vhu.1_5'UTR	p.L101F	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN			4	595	+			101			Extracellular (Potential).		A6NIT7|A6NJV9|B0M0K4|B4DR54|O95966|Q6ZMP1|Q8NGB3|Q96HB4	Missense_Mutation	SNP	ENST00000388812.4	37	c.303A>T	CCDS32460.1	.	.	.	.	.	.	.	.	.	.	A	3.420	-0.118390	0.06838	.	.	ENSG00000205336	ENST00000388813;ENST00000388812;ENST00000538815;ENST00000456916;ENST00000540164;ENST00000379696	T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75	5.36	-0.49	0.12049	.	0.740783	0.11675	N	0.540465	T	0.34716	0.0907	L	0.50333	1.59	0.20489	N	0.999896	B;B;B	0.21309	0.005;0.054;0.005	B;B;B	0.19666	0.007;0.026;0.007	T	0.25676	-1.0125	10	0.33141	T	0.24	.	3.3055	0.06998	0.0943:0.4461:0.2445:0.2151	.	106;101;101	B4DR54;Q9Y653-2;Q9Y653	.;.;GPR56_HUMAN	F	101	ENSP00000373465:L101F;ENSP00000373464:L101F;ENSP00000444415:L101F;ENSP00000398034:L101F;ENSP00000444911:L101F;ENSP00000369018:L101F	ENSP00000369018:L101F	L	+	3	2	GPR56	56242851	0.052000	0.20516	0.023000	0.16930	0.003000	0.03518	0.394000	0.20834	-0.003000	0.14444	-0.146000	0.13790	TTA		0.602	GPR56-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000433436.3				19	60	0	0	0	0.007413	0	19	60		
GPR97	222487	broad.mit.edu	37	16	57719645	57719645	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr16:57719645C>T	ENST00000333493.4	+	11	1508	c.1347C>T	c.(1345-1347)gtC>gtT	p.V449V	RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000450388.3_Silent_p.V329V|GPR97_ENST00000327655.6_Silent_p.V239V	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	449					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GCATGGTGGTCCTGGCCCTGG	0.592																																						uc002emh.2		NaN																	0				ovary(1)	1						c.(1345-1347)GTC>GTT		G protein-coupled receptor 97 precursor							169.0	146.0	154.0					16																	57719645		2198	4300	6498	SO:0001819	synonymous_variant	222487				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr16:57719645C>T	AY140959	CCDS10786.1	16q13	2014-08-08			ENSG00000182885	ENSG00000182885		"""-"", ""GPCR / Class B : Orphans"""	13728	protein-coding gene	gene with protein product						12435584, 222487	Standard	NM_170776		Approved	Pb99, PGR26	uc002emh.3	Q86Y34	OTTHUMG00000133458	ENST00000333493.4:c.1347C>T	16.37:g.57719645C>T						GPR97_uc010vhv.1_Silent_p.V329V|GPR97_uc010cdd.2_RNA|GPR97_uc010cde.2_Silent_p.V57V	p.V449V	NM_170776	NP_740746	Q86Y34	GPR97_HUMAN			11	1450	+			449			Helical; Name=5; (Potential).		Q6ZMF4|Q86SL9|Q8IZF1	Silent	SNP	ENST00000333493.4	37	c.1347C>T	CCDS10786.1																																																																																				0.592	GPR97-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257333.2		NM_170776		21	80	0	0	0	0.010504	0	21	80		
KATNB1	10300	broad.mit.edu	37	16	57786831	57786831	+	Silent	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr16:57786831T>C	ENST00000379661.3	+	10	1238	c.846T>C	c.(844-846)aaT>aaC	p.N282N		NM_005886.2	NP_005877.2			katanin p80 (WD repeat containing) subunit B 1											cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				CCATCTGCAATGACCAGTTGG	0.667																																						uc002eml.1		NaN																	0					0						c.(844-846)AAT>AAC		katanin p80 subunit B 1							39.0	38.0	39.0					16																	57786831		2198	4300	6498	SO:0001819	synonymous_variant	10300				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity	g.chr16:57786831T>C	AF052432	CCDS10788.1	16q12.2	2013-01-09	2003-03-13		ENSG00000140854	ENSG00000140854		"""WD repeat domain containing"""	6217	protein-coding gene	gene with protein product		602703	"""katanin p80 (WD40-containing) subunit B 1"""			9568719	Standard	XM_006721121		Approved		uc002eml.1	Q9BVA0	OTTHUMG00000133467	ENST00000379661.3:c.846T>C	16.37:g.57786831T>C							p.N282N	NM_005886	NP_005877	Q9BVA0	KTNB1_HUMAN			10	1220	+		all_neural(199;0.223)	282			Interaction with centrosomes.|Interaction with dynein (By similarity).			Silent	SNP	ENST00000379661.3	37	c.846T>C	CCDS10788.1																																																																																				0.667	KATNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257343.3				21	58	0	0	0	0.007291	0	21	58		
NDRG4	65009	broad.mit.edu	37	16	58538110	58538110	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr16:58538110C>T	ENST00000570248.1	+	3	286	c.180C>T	c.(178-180)acC>acT	p.T60T	NDRG4_ENST00000562999.1_Silent_p.T60T|NDRG4_ENST00000394279.2_Silent_p.T92T|NDRG4_ENST00000563022.1_3'UTR|NDRG4_ENST00000258187.5_Silent_p.T92T|NDRG4_ENST00000566192.1_Silent_p.T60T|NDRG4_ENST00000563799.1_Silent_p.T78T|NDRG4_ENST00000394282.4_Silent_p.T112T|NDRG4_ENST00000568640.1_Silent_p.T78T|NDRG4_ENST00000356752.4_Silent_p.T90T|NDRG4_ENST00000569923.1_Silent_p.T5T	NM_001242835.1	NP_001229764.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	60					cell differentiation (GO:0030154)|cell growth (GO:0016049)|response to stress (GO:0006950)	cytoplasm (GO:0005737)				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						AGGAGATCACCAAGCACTTTG	0.572																																						uc002eno.2		NaN																	0				skin(1)	1						c.(178-180)ACC>ACT		NDRG family member 4 isoform 1							120.0	120.0	120.0					16																	58538110		2198	4300	6498	SO:0001819	synonymous_variant	65009				cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm		g.chr16:58538110C>T	AB044947	CCDS10797.1, CCDS45500.1, CCDS55999.1, CCDS58465.1, CCDS58466.1, CCDS58467.1	16q21-q22.3	2008-07-04			ENSG00000103034	ENSG00000103034			14466	protein-coding gene	gene with protein product		614463				11352569, 16408304	Standard	NM_020465		Approved	KIAA1180, SMAP-8	uc002enk.3	Q9ULP0	OTTHUMG00000133485	ENST00000570248.1:c.180C>T	16.37:g.58538110C>T						NDRG4_uc002enk.2_Silent_p.T92T|NDRG4_uc002enm.2_Silent_p.T112T|NDRG4_uc010vif.1_Silent_p.T92T|NDRG4_uc010cdk.2_Silent_p.T78T|NDRG4_uc010vig.1_Silent_p.T90T|NDRG4_uc010vih.1_Silent_p.T5T|NDRG4_uc010vii.1_Silent_p.T78T|NDRG4_uc002enp.2_Silent_p.T60T|NDRG4_uc002enq.1_5'Flank	p.T60T	NM_022910	NP_075061	Q9ULP0	NDRG4_HUMAN			3	286	+			60					B3KNU2|B4DK66|B4DSW5|H7C600|Q6ZNE7|Q6ZTI7|Q96PL9|Q9GZM1|Q9GZN3|Q9GZX0	Silent	SNP	ENST00000570248.1	37	c.180C>T	CCDS58466.1																																																																																				0.572	NDRG4-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422671.2				39	179	0	0	0	0.00874	0	39	179		
CBFB	865	broad.mit.edu	37	16	67116228	67116228	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr16:67116228T>A	ENST00000290858.6	+	5	773	c.512T>A	c.(511-513)cTg>cAg	p.L171Q	CBFB_ENST00000561924.2_Missense_Mutation_p.L71Q|CBFB_ENST00000412916.2_Intron	NM_001755.2|NM_022845.2	NP_001746.1|NP_074036.1	Q13951	PEBB_HUMAN	core-binding factor, beta subunit	171					cell maturation (GO:0048469)|definitive hemopoiesis (GO:0060216)|lymphocyte differentiation (GO:0030098)|myeloid cell differentiation (GO:0030099)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(3)|large_intestine(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066)		GTTTCACAGCTGCTGGCAGTA	0.428			T	MYH11	AML																																	uc002era.2		NaN		Dom	yes		16	16q22	865	T	"""core-binding factor, beta subunit"""			L	MYH11		AML		0				breast(2)	2						c.(511-513)CTG>CAG		core-binding factor, beta subunit isoform 2							144.0	140.0	142.0					16																	67116228		2200	4300	6500	SO:0001583	missense	865				transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr16:67116228T>A	BC018509	CCDS10827.1, CCDS45508.1	16q22.1	2008-02-05			ENSG00000067955	ENSG00000067955			1539	protein-coding gene	gene with protein product		121360				8351518, 7587111	Standard	NM_001755		Approved	PEBP2B	uc002erb.3	Q13951	OTTHUMG00000137520	ENST00000290858.6:c.512T>A	16.37:g.67116228T>A	ENSP00000290858:p.Leu171Gln					CBFB_uc002erb.2_Intron|CBFB_uc010vja.1_Intron	p.L171Q	NM_001755	NP_001746	Q13951	PEBB_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066)	5	773	+		Ovarian(137;0.0563)	171					A8K347|Q13124|Q9HCT2	Missense_Mutation	SNP	ENST00000290858.6	37	c.512T>A	CCDS10827.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.069118	0.76301	.	.	ENSG00000067955	ENST00000290858	.	.	.	5.64	5.64	0.86602	.	2.307170	0.01538	N	0.019105	T	0.34366	0.0895	N	0.03608	-0.345	0.80722	D	1	P	0.37573	0.6	B	0.42995	0.404	T	0.24835	-1.0149	9	0.17832	T	0.49	.	9.2264	0.37410	0.0:0.0813:0.0:0.9187	.	171	Q13951	PEBB_HUMAN	Q	171	.	ENSP00000290858:L171Q	L	+	2	0	CBFB	65673729	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.018000	0.57174	2.145000	0.66743	0.477000	0.44152	CTG		0.428	CBFB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268843.2		NM_001755		38	83	0	0	0	0.00361	0	38	83		
THAP11	57215	broad.mit.edu	37	16	67876805	67876805	+	Silent	SNP	A	A	G	rs28434205	byFrequency	TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr16:67876805A>G	ENST00000303596.1	+	1	593	c.348A>G	c.(346-348)caA>caG	p.Q116Q	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	116	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.Q116Q(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		aacagcagcaacagcagcagc	0.682																																						uc002euo.2		NaN																	1	Substitution - coding silent(1)		lung(1)		0						c.(346-348)CAA>CAG		THAP domain containing 11		G	,	14,3828		0,14,1907	21.0	26.0	24.0		348,	-3.2	0.7	16	dbSNP_125	24	20,7612		0,20,3796	no	coding-synonymous,intron	THAP11,CENPT	NM_020457.2,NM_025082.3	,	0,34,5703	GG,GA,AA		0.2621,0.3644,0.2963	,	116/315,	67876805	34,11440	1921	3816	5737	SO:0001819	synonymous_variant	57215				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding	g.chr16:67876805A>G	AB015338	CCDS10847.1	16q22.1	2013-01-25			ENSG00000168286	ENSG00000168286		"""THAP (C2CH-type zinc finger) domain containing"""	23194	protein-coding gene	gene with protein product		609119				12575992, 8325628	Standard	NM_020457		Approved	HRIHFB2206, CTG-B45d, CTG-B43a	uc002euo.3	Q96EK4	OTTHUMG00000137546	ENST00000303596.1:c.348A>G	16.37:g.67876805A>G						CENPT_uc002eun.3_Intron	p.Q116Q	NM_020457	NP_065190	Q96EK4	THA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)	1	593	+		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)	116			Gln-rich.		A4UCT5|A8K002|O94795	Silent	SNP	ENST00000303596.1	37	c.348A>G	CCDS10847.1																																																																																				0.682	THAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268879.1		NM_020457		20	128	0	0	0	0.010504	0	20	128		
VPS4A	27183	broad.mit.edu	37	16	69352762	69352762	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr16:69352762A>G	ENST00000254950.11	+	5	536	c.380A>G	c.(379-381)aAc>aGc	p.N127S	COG8_ENST00000564419.1_5'Flank|RP11-343C2.11_ENST00000570054.2_Missense_Mutation_p.N151S	NM_013245.2	NP_037377.1			vacuolar protein sorting 4 homolog A (S. cerevisiae)											NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3)	7		Ovarian(137;0.101)				ATACGGTGGAACGACGTGGCC	0.632																																						uc002eww.2		NaN																	0					0						c.(379-381)AAC>AGC		vacuolar protein sorting factor 4A							114.0	128.0	123.0					16																	69352762		1913	4129	6042	SO:0001583	missense	27183				cell cycle|cellular membrane organization|cytokinesis|endosome transport|protein transport	cytosol|late endosome membrane|midbody|perinuclear region of cytoplasm	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein domain specific binding	g.chr16:69352762A>G	AF112215	CCDS45517.1	16q23.1	2010-04-21	2006-04-04		ENSG00000132612	ENSG00000132612		"""ATPases / AAA-type"""	13488	protein-coding gene	gene with protein product		609982	"""vacuolar protein sorting 4A (yeast homolog)"", ""vacuolar protein sorting 4A (yeast)"""			10637304, 11563910	Standard	NM_013245		Approved	VPS4, VPS4-1, FLJ22197, SKD2, SKD1, SKD1A	uc002eww.3	Q9UN37		ENST00000254950.11:c.380A>G	16.37:g.69352762A>G	ENSP00000254950:p.Asn127Ser						p.N127S	NM_013245	NP_037377	Q9UN37	VPS4A_HUMAN			5	508	+		Ovarian(137;0.101)	127						Missense_Mutation	SNP	ENST00000254950.11	37	c.380A>G	CCDS45517.1	.	.	.	.	.	.	.	.	.	.	A	13.60	2.286898	0.40494	.	.	ENSG00000132612	ENST00000254950	D	0.94576	-3.46	6.17	-2.24	0.06909	.	0.384414	0.34828	N	0.003644	T	0.78502	0.4293	N	0.01188	-0.97	0.45747	D	0.998643	B	0.02656	0.0	B	0.01281	0.0	T	0.66412	-0.5930	10	0.06365	T	0.9	-23.6276	12.9679	0.58494	0.5103:0.0:0.4897:0.0	.	127	Q9UN37	VPS4A_HUMAN	S	127	ENSP00000254950:N127S	ENSP00000254950:N127S	N	+	2	0	VPS4A	67910263	0.059000	0.20769	0.974000	0.42286	0.959000	0.62525	0.377000	0.20552	-0.317000	0.08677	-0.256000	0.11100	AAC		0.632	VPS4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430563.3		NM_013245		72	239	0	0	0	0.00361	0	72	239		
ZNF23	7571	broad.mit.edu	37	16	71483261	71483261	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr16:71483261G>A	ENST00000393539.2	-	6	1480	c.667C>T	c.(667-669)Ccc>Tcc	p.P223S	ZNF23_ENST00000357254.4_Missense_Mutation_p.P223S|ZNF23_ENST00000428724.2_Missense_Mutation_p.P165S|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000564528.1_Missense_Mutation_p.P165S|ZNF23_ENST00000539742.1_5'UTR|AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000417828.1_Missense_Mutation_p.P223S	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	223					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		CATTTGAAGGGTTTCTCCCCA	0.438																																						uc002faf.2		NaN																	0					0						c.(667-669)CCC>TCC		zinc finger protein 23							114.0	114.0	114.0					16																	71483261		2198	4300	6498	SO:0001583	missense	7571				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:71483261G>A	X52347	CCDS10900.1	16q22.2	2013-03-28	2012-07-12		ENSG00000167377	ENSG00000167377		"""Zinc fingers, C2H2-type"""	13023	protein-coding gene	gene with protein product		194527	"""zinc finger protein 359"""	ZNF359			Standard	NM_145911		Approved	KOX16, Zfp612, ZNF612	uc002faf.3	P17027	OTTHUMG00000176797	ENST00000393539.2:c.667C>T	16.37:g.71483261G>A	ENSP00000377171:p.Pro223Ser					ZNF23_uc002fad.2_Missense_Mutation_p.P165S|ZNF23_uc002fae.2_Missense_Mutation_p.P165S|ZNF23_uc010vmf.1_Missense_Mutation_p.P165S|ZNF23_uc002fag.2_Missense_Mutation_p.P165S|ZNF23_uc002fah.2_Missense_Mutation_p.P223S|ZNF23_uc002fai.2_Missense_Mutation_p.P262S	p.P223S	NM_145911	NP_666016	P17027	ZNF23_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0686)	6	1481	-		Ovarian(137;0.00768)	223					Q8NDP5|Q96IT3|Q9UG42	Missense_Mutation	SNP	ENST00000393539.2	37	c.667C>T	CCDS10900.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.014360	0.75161	.	.	ENSG00000167377	ENST00000393539;ENST00000357254;ENST00000417828;ENST00000428724;ENST00000539742;ENST00000358700	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	3.7	3.7	0.42460	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40908	D	0.000984	T	0.27098	0.0664	N	0.21583	0.68	0.46376	D	0.999018	D;D	0.89917	0.996;1.0	D;D	0.87578	0.922;0.998	T	0.06770	-1.0808	10	0.87932	D	0	-16.6974	13.7712	0.63026	0.0:0.0:1.0:0.0	.	223;223	B3KR55;P17027	.;ZNF23_HUMAN	S	223;223;223;165;165;23	ENSP00000377171:P223S;ENSP00000349796:P223S;ENSP00000395712:P223S;ENSP00000387673:P165S	ENSP00000349796:P223S	P	-	1	0	ZNF23	70040762	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.361000	0.79497	2.371000	0.80710	0.561000	0.74099	CCC		0.438	ZNF23-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268985.23		NM_145911		40	32	0	0	0	0.00361	0	40	32		
CHST4	10164	broad.mit.edu	37	16	71571354	71571354	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr16:71571354G>A	ENST00000338482.5	+	3	1117	c.774G>A	c.(772-774)aaG>aaA	p.K258K	CHST4_ENST00000539698.3_Silent_p.K258K|RP11-510M2.5_ENST00000568523.1_RNA|CHST4_ENST00000572450.1_Silent_p.K258K|ZNF19_ENST00000568446.1_Intron			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	258					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|immune response (GO:0006955)|inflammatory response (GO:0006954)|leukocyte tethering or rolling (GO:0050901)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|sulfur compound metabolic process (GO:0006790)	integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						AGATCTACAAGACCATCCAGT	0.557											OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002fan.2		NaN																	0					0						c.(772-774)AAG>AAA		carbohydrate (N-acetylglucosamine 6-O)							97.0	83.0	88.0					16																	71571354		2198	4300	6498	SO:0001819	synonymous_variant	10164				cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:71571354G>A	AF131235	CCDS10902.1	16q22.2	2008-02-05			ENSG00000140835	ENSG00000140835		"""Sulfotransferases, membrane-bound"""	1972	protein-coding gene	gene with protein product						10330415	Standard	NM_001166395		Approved	HEC-GLCNAC-6-ST, LSST	uc002fao.3	Q8NCG5	OTTHUMG00000137592	ENST00000338482.5:c.774G>A	16.37:g.71571354G>A			OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1131	CHST4_uc002fao.2_Silent_p.K258K	p.K258K	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN			2	955	+			258			Lumenal (Potential).		Q8IV46|Q9Y5R3	Silent	SNP	ENST00000338482.5	37	c.774G>A	CCDS10902.1																																																																																				0.557	CHST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268992.4		NM_005769		9	63	0	0	0	0.000978	0	9	63		
PHLPP2	23035	broad.mit.edu	37	16	71706188	71706188	+	Silent	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr16:71706188C>A	ENST00000568954.1	-	10	1887	c.1509G>T	c.(1507-1509)ctG>ctT	p.L503L	PHLPP2_ENST00000567016.1_Silent_p.L538L|PHLPP2_ENST00000393524.2_Silent_p.L503L|PHLPP2_ENST00000356272.3_Silent_p.L503L|PHLPP2_ENST00000360429.3_Silent_p.L503L			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	503					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						AGAAAGTGAGCAGGCTGGGTA	0.438																																						uc002fax.2		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(1507-1509)CTG>CTT		PH domain and leucine rich repeat protein							95.0	79.0	84.0					16																	71706188		2198	4300	6498	SO:0001819	synonymous_variant	23035					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr16:71706188C>A	BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.1509G>T	16.37:g.71706188C>A						PHLPP2_uc002fav.2_RNA|PHLPP2_uc010cgf.2_Silent_p.L503L	p.L503L	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN			9	1515	-			503			LRR 12.		A1L374|Q9NV17|Q9Y2E3	Silent	SNP	ENST00000568954.1	37	c.1509G>T	CCDS32479.1																																																																																				0.438	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000434139.1		NM_015020		11	26	1	0	2.48551e-13	0.00499	2.69945e-13	11	26		
ASPA	443	broad.mit.edu	37	17	3379514	3379514	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr17:3379514C>G	ENST00000263080.2	+	1	219	c.61C>G	c.(61-63)Cat>Gat	p.H21D	ASPA_ENST00000456349.2_Missense_Mutation_p.H21D|SPATA22_ENST00000541913.1_Intron	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	21			H -> P (in CAND). {ECO:0000269|PubMed:10909858}.		aspartate catabolic process (GO:0006533)|central nervous system myelination (GO:0022010)|positive regulation of oligodendrocyte differentiation (GO:0048714)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminoacylase activity (GO:0004046)|aspartoacylase activity (GO:0019807)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	TGGAGGAACCCATGGGAATGA	0.398																																						uc010ckg.2		NaN																	0					0						c.(61-63)CAT>GAT		aspartoacylase	L-Aspartic Acid(DB00128)						140.0	138.0	138.0					17																	3379514		2203	4300	6503	SO:0001583	missense	443				aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding	g.chr17:3379514C>G	S67156	CCDS11028.1	17p13.3	2010-06-24	2010-06-24		ENSG00000108381	ENSG00000108381	3.5.1.15		756	protein-coding gene	gene with protein product	"""aminoacylase 2"", ""Canavan disease"""	608034	"""aspartoacylase (aminoacylase 2, Canavan disease)"""			8252036	Standard	NM_001128085		Approved	ASP, ACY2	uc002fvq.3	P45381	OTTHUMG00000090655	ENST00000263080.2:c.61C>G	17.37:g.3379514C>G	ENSP00000263080:p.His21Asp					SPATA22_uc010vrg.1_Intron|ASPA_uc002fvq.2_Missense_Mutation_p.H21D	p.H21D	NM_001128085	NP_001121557	P45381	ACY2_HUMAN			2	152	+			21		H -> P (in CAND).		Zinc.		Missense_Mutation	SNP	ENST00000263080.2	37	c.61C>G	CCDS11028.1	.	.	.	.	.	.	.	.	.	.	c	27.1	4.799170	0.90538	.	.	ENSG00000108381	ENST00000456349;ENST00000263080	D;D	0.99841	-7.09;-7.09	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.99864	0.9936	M	0.90977	3.165	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96814	0.9599	10	0.87932	D	0	-21.6546	18.6499	0.91427	0.0:1.0:0.0:0.0	.	21	P45381	ACY2_HUMAN	D	21	ENSP00000409976:H21D;ENSP00000263080:H21D	ENSP00000263080:H21D	H	+	1	0	ASPA	3326264	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.598000	0.82745	2.720000	0.93068	0.557000	0.71058	CAT		0.398	ASPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207315.1		NM_000049		34	29	0	0	0	0.00874	0	34	29		
TP53	7157	broad.mit.edu	37	17	7578208	7578208	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq;WGS			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr17:7578208T>C	ENST00000269305.4	-	6	830	c.641A>G	c.(640-642)cAt>cGt	p.H214R	TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.H214R|TP53_ENST00000413465.2_Missense_Mutation_p.H214R|TP53_ENST00000445888.2_Missense_Mutation_p.H214R|TP53_ENST00000359597.4_Missense_Mutation_p.H214R|TP53_ENST00000455263.2_Missense_Mutation_p.H214R	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	214	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		H -> D (in sporadic cancers; somatic mutation).|H -> P (in a sporadic cancer; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.H214R(61)|p.0?(8)|p.?(5)|p.H82R(4)|p.H214fs*33(4)|p.H121R(4)|p.H214fs*5(2)|p.D208fs*1(1)|p.H82fs*>9(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.H121fs*33(1)|p.T211_S215delTFRHS(1)|p.R209fs*6(1)|p.D208_V216delDRNTFRHSV(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CACCACACTATGTCGAAAAGT	0.542		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		98	Substitution - Missense(69)|Deletion - Frameshift(12)|Whole gene deletion(8)|Unknown(5)|Deletion - In frame(3)|Complex - deletion inframe(1)	p.H214R(45)|p.0?(7)|p.H214Y(4)|p.H214Q(4)|p.H214D(3)|p.H214fs*5(2)|p.H214fs*33(2)|p.D208fs*1(1)|p.K164_P219del(1)|p.H214H(1)|p.H214fs*7(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.T211_S215delTFRHS(1)|p.H214_S215insX(1)|p.R209fs*6(1)|p.D208_V216delDRNTFRHSV(1)	lung(27)|liver(12)|ovary(8)|biliary_tract(6)|oesophagus(6)|upper_aerodigestive_tract(5)|central_nervous_system(5)|large_intestine(5)|urinary_tract(5)|prostate(4)|bone(4)|stomach(3)|breast(3)|haematopoietic_and_lymphoid_tissue(2)|soft_tissue(1)|skin(1)|pancreas(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(640-642)CAT>CGT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							127.0	114.0	119.0					17																	7578208		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578208T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.641A>G	17.37:g.7578208T>C	ENSP00000269305:p.His214Arg	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.H214R|TP53_uc002gih.2_Missense_Mutation_p.H214R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.H82R|TP53_uc010cng.1_Missense_Mutation_p.H82R|TP53_uc002gii.1_Missense_Mutation_p.H82R|TP53_uc010cnh.1_Missense_Mutation_p.H214R|TP53_uc010cni.1_Missense_Mutation_p.H214R|TP53_uc002gij.2_Missense_Mutation_p.H214R|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.H121R|TP53_uc002gio.2_Missense_Mutation_p.H82R|TP53_uc010vug.1_Missense_Mutation_p.H175R	p.H214R	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	835	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	214		H -> Y (in sporadic cancers; somatic mutation).|H -> D (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> P (in a sporadic cancer; somatic mutation).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.641A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	35	5.548167	0.96488	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99755	-6.64;-6.64;-6.64;-6.64;-6.64;-6.64;-6.64;-6.64	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.052737	0.85682	D	0.000000	D	0.99664	0.9875	M	0.75615	2.305	0.80722	D	1	D;D;P;D;D;D;D	0.76494	0.999;0.992;0.733;0.999;0.994;0.994;0.999	D;D;B;D;D;D;D	0.74674	0.984;0.947;0.376;0.982;0.95;0.968;0.962	D	0.97475	1.0043	10	0.72032	D	0.01	-26.1151	13.4753	0.61306	0.0:0.0:0.0:1.0	.	175;214;214;121;214;214;214	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	214;214;214;214;214;214;203;121;82;121;82	ENSP00000410739:H214R;ENSP00000352610:H214R;ENSP00000269305:H214R;ENSP00000398846:H214R;ENSP00000391127:H214R;ENSP00000391478:H214R;ENSP00000425104:H82R;ENSP00000423862:H121R	ENSP00000269305:H214R	H	-	2	0	TP53	7518933	1.000000	0.71417	0.283000	0.24790	0.961000	0.63080	7.996000	0.88334	2.128000	0.65567	0.460000	0.39030	CAT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1		NM_000546		42	13	0	0	0	0.00361	0	42	13		
CHD3	1107	broad.mit.edu	37	17	7788214	7788214	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr17:7788214G>C	ENST00000380358.4	+	1	91	c.90G>C	c.(88-90)gaG>gaC	p.E30D	LSMD1_ENST00000570555.1_Intron|LSMD1_ENST00000576861.1_Intron	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	0					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				agggcgacgaggaggaggagg	0.682																																						uc002gjd.2		NaN																	0				breast(1)	1						c.(88-90)GAG>GAC		chromodomain helicase DNA binding protein 3							17.0	12.0	14.0					17																	7788214		2064	4071	6135	SO:0001583	missense	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7788214G>C	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000380358.4:c.90G>C	17.37:g.7788214G>C	ENSP00000369716:p.Glu30Asp						p.E30D	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN			1	92	+		Prostate(122;0.202)	445			Poly-Glu.		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000380358.4	37	c.90G>C	CCDS32553.2	.	.	.	.	.	.	.	.	.	.	g	12.79	2.044260	0.36085	.	.	ENSG00000170004	ENST00000380358	D	0.89617	-2.54	1.47	1.47	0.22746	.	.	.	.	.	T	0.78666	0.4319	N	0.08118	0	0.80722	D	1	P	0.46912	0.886	P	0.45506	0.483	T	0.77324	-0.2630	9	0.87932	D	0	.	8.4001	0.32581	0.0:0.0:1.0:0.0	.	30	E9PG89	.	D	30	ENSP00000369716:E30D	ENSP00000369716:E30D	E	+	3	2	CHD3	7728939	0.992000	0.36948	0.992000	0.48379	0.324000	0.28378	0.199000	0.17237	0.729000	0.32403	0.403000	0.27427	GAG		0.682	CHD3-003	NOVEL	not_organism_supported|basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000318052.1		NM_001005273		2	3	0	0	0	0.004672	0	2	3		
TOP2A	7153	broad.mit.edu	37	17	38556598	38556598	+	Missense_Mutation	SNP	T	T	C	rs375158687		TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr17:38556598T>C	ENST00000423485.1	-	23	3021	c.2863A>G	c.(2863-2865)Aca>Gca	p.T955A		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	955					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	CTATAGTCTGTTATGAGAGGA	0.378																																						uc002huq.2		NaN																	0				ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(2863-2865)ACA>GCA		DNA topoisomerase II, alpha isozyme	Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	T	ALA/THR	0,3744		0,0,1872	114.0	104.0	107.0		2863	4.4	1.0	17		107	1,8189		0,1,4094	no	missense	TOP2A	NM_001067.3	58	0,1,5966	CC,CT,TT		0.0122,0.0,0.0084	benign	955/1532	38556598	1,11933	1872	4095	5967	SO:0001583	missense	7153				apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding	g.chr17:38556598T>C		CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"""topoisomerase (DNA) II alpha (170kD)"""	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.2863A>G	17.37:g.38556598T>C	ENSP00000411532:p.Thr955Ala						p.T955A	NM_001067	NP_001058	P11388	TOP2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.00183)		23	2989	-		Breast(137;0.00328)	955					B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	ENST00000423485.1	37	c.2863A>G	CCDS45672.1	.	.	.	.	.	.	.	.	.	.	T	13.74	2.327909	0.41197	0.0	1.22E-4	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.22743	1.94	5.46	4.37	0.52481	DNA topoisomerase, type IIA, subunit A/C-terminal (2);Arginine repressor, C-terminal (1);DNA topoisomerase, type IIA, central (1);	0.142736	0.64402	D	0.000005	T	0.22820	0.0551	L	0.55481	1.735	0.39380	D	0.966243	B	0.18461	0.028	B	0.30029	0.11	T	0.05989	-1.0852	10	0.35671	T	0.21	.	11.0281	0.47757	0.0:0.073:0.0:0.9269	.	955	P11388	TOP2A_HUMAN	A	955;1035;978;991	ENSP00000411532:T955A	ENSP00000269577:T1035A	T	-	1	0	TOP2A	35810124	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.094000	0.57721	2.201000	0.70794	0.533000	0.62120	ACA		0.378	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1				11	15	0	0	0	0.001855	0	11	15		
KRT16	3868	broad.mit.edu	37	17	39766722	39766722	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr17:39766722T>C	ENST00000301653.4	-	6	1205	c.1141A>G	c.(1141-1143)Agt>Ggt	p.S381G		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	381	Coil 2.|Rod.				aging (GO:0007568)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|epidermis development (GO:0008544)|hair cycle (GO:0042633)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of cell migration (GO:0030336)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				TCCTCCACACTGCCAATCAGT	0.577																																						uc002hxg.3		NaN																	0				skin(1)	1						c.(1141-1143)AGT>GGT		keratin 16							69.0	68.0	68.0					17																	39766722		2203	4297	6500	SO:0001583	missense	3868				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39766722T>C	S79867	CCDS11401.1	17q21.2	2013-01-16	2008-08-01		ENSG00000186832	ENSG00000186832		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6423	protein-coding gene	gene with protein product	"""focal non-epidermolytic palmoplantar keratoderma"""	148067				2451124, 16831889	Standard	NM_005557		Approved	NEPPK	uc002hxg.4	P08779	OTTHUMG00000133495	ENST00000301653.4:c.1141A>G	17.37:g.39766722T>C	ENSP00000301653:p.Ser381Gly					JUP_uc010wfs.1_Intron	p.S381G	NM_005557	NP_005548	P08779	K1C16_HUMAN			6	1280	-		Breast(137;0.000307)	381			Rod.|Coil 2.		A8K488|P30654|Q16402|Q9UBG8	Missense_Mutation	SNP	ENST00000301653.4	37	c.1141A>G	CCDS11401.1	.	.	.	.	.	.	.	.	.	.	T	10.02	1.235732	0.22626	.	.	ENSG00000186832	ENST00000301653	D	0.89196	-2.48	4.11	2.99	0.34606	Filament (1);	0.414422	0.22981	N	0.053306	T	0.81331	0.4800	L	0.35854	1.095	0.09310	N	1	B	0.15930	0.015	B	0.29785	0.107	T	0.68569	-0.5374	10	0.42905	T	0.14	.	1.93	0.03325	0.2493:0.084:0.1344:0.5323	.	381	P08779	K1C16_HUMAN	G	381	ENSP00000301653:S381G	ENSP00000301653:S381G	S	-	1	0	KRT16	37020248	0.000000	0.05858	0.177000	0.23020	0.967000	0.64934	-1.049000	0.03514	0.700000	0.31782	0.379000	0.24179	AGT		0.577	KRT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257408.1		NM_005557		59	126	0	0	0	0.00361	0	59	126		
JUP	3728	broad.mit.edu	37	17	39923802	39923802	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr17:39923802G>A	ENST00000393931.3	-	5	856	c.738C>T	c.(736-738)gcC>gcT	p.A246A	JUP_ENST00000393930.1_Silent_p.A246A|JUP_ENST00000540235.1_Silent_p.A246A|JUP_ENST00000310706.5_Silent_p.A246A	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	246	Interaction with DSC1 and DSG1.				adherens junction organization (GO:0034332)|atrioventricular valve morphogenesis (GO:0003181)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell-cell junction organization (GO:0045216)|cellular response to indole-3-methanol (GO:0071681)|cytoskeletal anchoring at plasma membrane (GO:0007016)|desmosome assembly (GO:0002159)|detection of mechanical stimulus (GO:0050982)|ectoderm development (GO:0007398)|endothelial cell-cell adhesion (GO:0071603)|establishment of protein localization to plasma membrane (GO:0090002)|gastrulation (GO:0007369)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of Wnt signaling pathway involved in heart development (GO:0003308)|nervous system development (GO:0007399)|oocyte development (GO:0048599)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein heterooligomerization (GO:0051291)|regulation of cell proliferation (GO:0042127)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)|ventricular cardiac muscle cell action potential (GO:0086005)	actin cytoskeleton (GO:0015629)|apicolateral plasma membrane (GO:0016327)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|gamma-catenin-TCF7L2 complex (GO:0071665)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|cadherin binding (GO:0045296)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|structural constituent of cell wall (GO:0005199)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GCGTGGTGATGGCATAGAACA	0.637																																					Colon(16;42 520 6044 17852 28530)	uc002hxq.2		NaN																	0				ovary(2)|lung(2)|breast(1)	5						c.(736-738)GCC>GCT		junction plakoglobin							65.0	54.0	58.0					17																	39923802		2203	4300	6503	SO:0001819	synonymous_variant	3728				adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity	g.chr17:39923802G>A	AF233882	CCDS11407.1	17q21	2014-09-17	2004-08-09		ENSG00000173801	ENSG00000173801		"""Armadillo repeat containing"""	6207	protein-coding gene	gene with protein product		173325	"""catenin (cadherin-associated protein), gamma 80kDa"""	CTNNG		1889810, 7604000	Standard	NM_021991		Approved	DP3, PDGB, PKGB, DPIII	uc002hxs.2	P14923	OTTHUMG00000133494	ENST00000393931.3:c.738C>T	17.37:g.39923802G>A						JUP_uc010wfs.1_Silent_p.A246A|JUP_uc002hxr.2_Silent_p.A246A|JUP_uc002hxs.2_Silent_p.A246A	p.A246A	NM_021991	NP_068831	P14923	PLAK_HUMAN	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)	5	1015	-		Breast(137;0.000162)	246			ARM 2.		Q15093|Q15151|Q7L3S5|Q86W21|Q9BWC4|Q9HCX9	Silent	SNP	ENST00000393931.3	37	c.738C>T	CCDS11407.1																																																																																				0.637	JUP-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257406.1				24	85	0	0	0	0.00333	0	24	85		
DHX8	1659	broad.mit.edu	37	17	41598153	41598153	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr17:41598153A>G	ENST00000262415.3	+	20	3044	c.2972A>G	c.(2971-2973)aAa>aGa	p.K991R	DHX8_ENST00000540306.1_Missense_Mutation_p.K991R	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	991					ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		ATGCTATGCAAAATGCTCATC	0.478											OREG0024435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(56;1548 1661 49258 49987)	uc002idu.1		NaN																	0				ovary(2)|kidney(1)|pancreas(1)	4						c.(2971-2973)AAA>AGA		DEAH (Asp-Glu-Ala-His) box polypeptide 8							130.0	111.0	118.0					17																	41598153		2203	4300	6503	SO:0001583	missense	1659					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr17:41598153A>G	D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"""DEAH-boxes"""	2749	protein-coding gene	gene with protein product		600396	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"""	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.2972A>G	17.37:g.41598153A>G	ENSP00000262415:p.Lys991Arg		OREG0024435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	902	DHX8_uc010wig.1_Missense_Mutation_p.K991R	p.K991R	NM_004941	NP_004932	Q14562	DHX8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.08)	20	3045	+		Breast(137;0.00908)	991						Missense_Mutation	SNP	ENST00000262415.3	37	c.2972A>G	CCDS11464.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.647620	0.87958	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	T;T	0.33865	1.39;1.39	5.79	5.79	0.91817	Helicase-associated domain (2);	0.000000	0.85682	D	0.000000	T	0.47116	0.1428	N	0.21583	0.68	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.998	T	0.49062	-0.8978	10	0.56958	D	0.05	.	15.3114	0.74035	1.0:0.0:0.0:0.0	.	991;991	F5H658;Q14562	.;DHX8_HUMAN	R	991	ENSP00000437886:K991R;ENSP00000262415:K991R	ENSP00000262415:K991R	K	+	2	0	DHX8	38953679	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.103000	0.94232	2.218000	0.71995	0.533000	0.62120	AAA		0.478	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1				19	14	0	0	0	0.010504	0	19	14		
ITGA2B	3674	broad.mit.edu	37	17	42455070	42455071	+	Missense_Mutation	DNP	GC	GC	TA	rs146445219		TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr17:42455070_42455071GC>TA	ENST00000262407.5	-	21	2213_2214	c.2182_2183GC>TA	c.(2182-2184)GCc>TAc	p.A728Y	ITGA2B_ENST00000353281.4_Missense_Mutation_p.A728Y	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	728					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	CCTCACCTGGGCGTTCTTCTTC	0.54																																						uc002igt.1		NaN																	0				ovary(2)|lung(1)	3						c.(2182-2184)GCC>TAC		integrin alpha 2b preproprotein	Tirofiban(DB00775)																																			SO:0001583	missense	3674				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	g.chr17:42455070_42455071GC>TA		CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"""CD molecules"", ""Integrins"""	6138	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 93"""	607759	"""integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"""	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.2182_2183delinsTA	17.37:g.42455070_42455071delinsTA	ENSP00000262407:p.Ala728Tyr					ITGA2B_uc002igu.1_Missense_Mutation_p.A209Y	p.A728Y	NM_000419	NP_000410	P08514	ITA2B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.191)	21	2214_2215	-		Prostate(33;0.0181)	728			Extracellular (Potential).		B2RCY8|O95366|Q14443|Q17R67	Missense_Mutation	DNP	ENST00000262407.5	37	c.2182_2183GC>TA	CCDS32665.1																																																																																				0.540	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1				12	49	0	0	0	0.004672	0	12	49		
AKAP1	8165	broad.mit.edu	37	17	55195741	55195741	+	Splice_Site	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr17:55195741G>T	ENST00000337714.3	+	9	2733		c.e9-1		AKAP1_ENST00000571629.1_Splice_Site|AKAP1_ENST00000572557.1_Splice_Site|AKAP1_ENST00000539273.1_Splice_Site	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1						blood coagulation (GO:0007596)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					TCCTCCTGAAGACGATGACCA	0.532																																						uc002iux.2		NaN																	0				ovary(1)	1						c.e9-1		A-kinase anchor protein 1 precursor							110.0	96.0	101.0					17																	55195741		2203	4300	6503	SO:0001630	splice_region_variant	8165				blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding	g.chr17:55195741G>T	X97335	CCDS11594.1	17q22	2013-01-23			ENSG00000121057	ENSG00000121057		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Tudor domain containing"""	367	protein-coding gene	gene with protein product	"""protein kinase anchoring protein 1"", ""dual specificity A-kinase-anchoring protein 1"", ""protein phosphatase 1, regulatory subunit 43"", ""tudor domain containing 17"""	602449		PRKA1		8769136, 7499250	Standard	NM_003488		Approved	AKAP121, AKAP149, SAKAP84, S-AKAP84, AKAP84, D-AKAP1, PPP1R43, TDRD17	uc002iux.3	Q92667	OTTHUMG00000140369	ENST00000337714.3:c.2501-1G>T	17.37:g.55195741G>T						AKAP1_uc010wnl.1_Splice_Site_p.D834_splice|AKAP1_uc010dcm.2_Splice_Site_p.D834_splice	p.D834_splice	NM_003488	NP_003479	Q92667	AKAP1_HUMAN			9	2732	+	Breast(9;5.46e-08)							A8K8Q1|D3DTZ0|Q13320|Q9BW14	Splice_Site	SNP	ENST00000337714.3	37	c.2501_splice	CCDS11594.1	.	.	.	.	.	.	.	.	.	.	G	13.71	2.319635	0.41096	.	.	ENSG00000121057	ENST00000337714;ENST00000427138;ENST00000539273	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6397	0.88132	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	AKAP1	52550740	1.000000	0.71417	0.994000	0.49952	0.273000	0.26683	7.846000	0.86887	2.643000	0.89663	0.650000	0.86243	.		0.532	AKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277069.1			Intron	32	37	1	0	5.71845e-15	0.005524	6.2582e-15	32	37		
LPO	4025	broad.mit.edu	37	17	56327935	56327935	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr17:56327935C>G	ENST00000262290.4	+	7	1049	c.733C>G	c.(733-735)Cag>Gag	p.Q245E	LPO_ENST00000582328.1_Missense_Mutation_p.Q162E|LPO_ENST00000543544.1_Missense_Mutation_p.Q186E|LPO_ENST00000421678.2_Missense_Mutation_p.Q162E	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	245					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						CTCCAAAGCCCAGTGTGATGA	0.557																																						uc002ivt.2		NaN																	0				ovary(1)|breast(1)	2						c.(733-735)CAG>GAG		lactoperoxidase isoform 1 preproprotein							123.0	88.0	100.0					17																	56327935		2203	4300	6503	SO:0001583	missense	4025				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr17:56327935C>G	M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.733C>G	17.37:g.56327935C>G	ENSP00000262290:p.Gln245Glu					LPO_uc010dco.2_Missense_Mutation_p.Q245E|LPO_uc010wnr.1_Missense_Mutation_p.Q162E|LPO_uc010wns.1_Missense_Mutation_p.Q186E|LPO_uc010dcp.2_Missense_Mutation_p.Q162E|LPO_uc010dcq.2_Intron|LPO_uc010dcr.2_5'Flank	p.Q245E	NM_006151	NP_006142	P22079	PERL_HUMAN			7	1049	+			245					A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Missense_Mutation	SNP	ENST00000262290.4	37	c.733C>G	CCDS32689.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.831815	0.50845	.	.	ENSG00000167419	ENST00000262290;ENST00000421678;ENST00000543544	T;T;T	0.71341	-0.56;-0.56;-0.56	5.78	4.79	0.61399	.	0.361046	0.29106	N	0.013124	T	0.55784	0.1942	L	0.39514	1.22	0.33418	D	0.579465	P;B;P;P	0.35844	0.524;0.049;0.505;0.505	B;B;B;B	0.32583	0.113;0.039;0.148;0.148	T	0.60702	-0.7211	10	0.02654	T	1	-24.4897	13.5076	0.61493	0.156:0.844:0.0:0.0	.	162;162;186;245	B4DUH9;E7EMJ3;B4E1M1;P22079	.;.;.;PERL_HUMAN	E	245;162;186	ENSP00000262290:Q245E;ENSP00000400245:Q162E;ENSP00000445344:Q186E	ENSP00000262290:Q245E	Q	+	1	0	LPO	53682934	0.134000	0.22483	0.961000	0.40146	0.946000	0.59487	1.122000	0.31295	1.401000	0.46761	0.655000	0.94253	CAG		0.557	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443961.1				37	27	0	0	0	0.002522	0	37	27		
RAD51C	5889	broad.mit.edu	37	17	56780655	56780655	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr17:56780655T>C	ENST00000337432.4	+	4	741	c.670T>C	c.(670-672)Tat>Cat	p.Y224H	RAD51C_ENST00000583539.1_Missense_Mutation_p.Y224H|RAD51C_ENST00000487921.1_3'UTR	NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C	224					blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|female meiosis sister chromatid cohesion (GO:0007066)|male meiosis I (GO:0007141)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131)|sister chromatid cohesion (GO:0007062)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|Rad51C-XRCC3 complex (GO:0033065)|replication fork (GO:0005657)	ATP binding (GO:0005524)|crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGCACAAGTTTATCTTCTTCC	0.348								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2																													uc002iwu.2		NaN																	0					0						c.(670-672)TAT>CAT	Homologous_recombination	RAD51 homolog C isoform 1							114.0	113.0	113.0					17																	56780655		2202	4299	6501	SO:0001583	missense	5889	Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2	Familial Cancer Database	BRCAX	blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr17:56780655T>C	AF029670	CCDS11611.1, CCDS45745.1	17q25.1	2014-09-17	2013-07-02		ENSG00000108384	ENSG00000108384		"""Fanconi anemia, complementation groups"""	9820	protein-coding gene	gene with protein product		602774	"""RAD51 (S. cerevisiae) homolog C"", ""RAD51 homolog C (S. cerevisiae)"""			9469824, 22167183	Standard	NM_058216		Approved	RAD51L2, FANCO	uc002iwu.3	O43502	OTTHUMG00000141292	ENST00000337432.4:c.670T>C	17.37:g.56780655T>C	ENSP00000336701:p.Tyr224His					RAD51C_uc010woa.1_Missense_Mutation_p.Y224H|RAD51C_uc010ddc.2_RNA|RAD51C_uc002iwv.2_RNA|RAD51C_uc002iww.2_RNA|RAD51C_uc010wob.1_RNA	p.Y224H	NM_058216	NP_478123	O43502	RA51C_HUMAN			4	712	+	Medulloblastoma(34;0.127)|all_neural(34;0.237)		224					O43503|Q3B783	Missense_Mutation	SNP	ENST00000337432.4	37	c.670T>C	CCDS11611.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.22|11.22	1.573224|1.573224	0.28092|0.28092	.|.	.|.	ENSG00000108384|ENSG00000108384	ENST00000413590|ENST00000337432;ENST00000425173	.|T;T	.|0.65178	.|-0.14;-0.14	5.61|5.61	4.34|4.34	0.51931|0.51931	.|DNA recombination/repair protein RecA/RadB, ATP-binding domain (1);ATPase, AAA+ type, core (1);DNA recombination and repair protein Rad51, C-terminal (1);	.|0.224208	.|0.48286	.|D	.|0.000191	T|T	0.37732|0.37732	0.1014|0.1014	N|N	0.16130|0.16130	0.375|0.375	0.80722|0.80722	D|D	1|1	.|B;B	.|0.06786	.|0.0;0.001	.|B;B	.|0.09377	.|0.004;0.004	T|T	0.22138|0.22138	-1.0225|-1.0225	5|10	.|0.14656	.|T	.|0.56	-17.1594|-17.1594	6.3019|6.3019	0.21117|0.21117	0.1459:0.0875:0.0:0.7665|0.1459:0.0875:0.0:0.7665	.|.	.|215;224	.|B4E0G0;O43502	.|.;RA51C_HUMAN	S|H	103|224;156	.|ENSP00000336701:Y224H;ENSP00000407282:Y156H	.|ENSP00000336701:Y224H	L|Y	+|+	2|1	0|0	RAD51C|RAD51C	54135654|54135654	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	2.074000|2.074000	0.41529|0.41529	2.136000|2.136000	0.66102|0.66102	0.455000|0.455000	0.32223|0.32223	TTA|TAT		0.348	RAD51C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280540.2		NM_058216		10	27	0	0	0	0.001368	0	10	27		
RNFT1	51136	broad.mit.edu	37	17	58040588	58040588	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr17:58040588C>T	ENST00000305783.8	-	2	169	c.114G>A	c.(112-114)atG>atA	p.M38I	RP11-178C3.1_ENST00000591035.1_Intron|RP11-178C3.2_ENST00000586209.1_lincRNA|RNFT1_ENST00000442346.2_Start_Codon_SNP_p.M1I	NM_016125.3	NP_057209.3	Q5M7Z0	RNFT1_HUMAN	ring finger protein, transmembrane 1	38						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)			GATTGGCTTGCATGGCCCTTA	0.453																																						uc002iya.2		NaN																	0					0						c.(112-114)ATG>ATA		PTD016 protein							87.0	80.0	82.0					17																	58040588		2203	4300	6503	SO:0001583	missense	51136					integral to membrane	zinc ion binding	g.chr17:58040588C>T	BC006971	CCDS11622.2	17q23.2	2013-01-09			ENSG00000189050	ENSG00000189050		"""RING-type (C3HC4) zinc fingers"""	30206	protein-coding gene	gene with protein product		615172				12477932	Standard	NM_016125		Approved	PTD016	uc002iya.3	Q5M7Z0	OTTHUMG00000148658	ENST00000305783.8:c.114G>A	17.37:g.58040588C>T	ENSP00000304670:p.Met38Ile					uc002iye.1_5'Flank|RNFT1_uc002iyb.2_RNA|RNFT1_uc002iyc.2_5'UTR|RNFT1_uc010wop.1_Missense_Mutation_p.M38I|RNFT1_uc002iyd.3_Missense_Mutation_p.M38I	p.M38I	NM_016125	NP_057209	Q5M7Z0	RNFT1_HUMAN	Epithelial(12;7.95e-12)|all cancers(12;1.34e-10)		2	207	-	all_cancers(5;1.58e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		38					Q8N7D0|Q96IZ9|Q9Y686	Missense_Mutation	SNP	ENST00000305783.8	37	c.114G>A	CCDS11622.2	.	.	.	.	.	.	.	.	.	.	C	15.77	2.930475	0.52866	.	.	ENSG00000189050	ENST00000305783;ENST00000442346	T	0.54866	0.55	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.69904	0.3163	L	0.60455	1.87	0.80722	D	1	D;D;D	0.63880	0.982;0.982;0.993	D;D;D	0.70227	0.961;0.961;0.968	T	0.71080	-0.4696	10	0.54805	T	0.06	-13.517	18.8191	0.92089	0.0:1.0:0.0:0.0	.	38;38;38	B4DHL4;Q5M7Z0-2;Q5M7Z0	.;.;RNFT1_HUMAN	I	38;1	ENSP00000304670:M38I	ENSP00000304670:M38I	M	-	3	0	RNFT1	55395370	1.000000	0.71417	1.000000	0.80357	0.129000	0.20672	5.655000	0.67981	2.419000	0.82065	0.591000	0.81541	ATG		0.453	RNFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000308958.1		NM_016125		11	40	0	0	0	0.001368	0	11	40		
SCN4A	6329	broad.mit.edu	37	17	62021113	62021113	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr17:62021113C>T	ENST00000435607.1	-	22	4086	c.4010G>A	c.(4009-4011)cGg>cAg	p.R1337Q	SCN4A_ENST00000578147.1_Missense_Mutation_p.R1337Q	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1337					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TACCTGGGGCCGGGGAATTGG	0.552																																						uc002jds.1		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(4009-4011)CGG>CAG		voltage-gated sodium channel type 4 alpha	Lamotrigine(DB00555)						51.0	56.0	54.0					17																	62021113		2097	4260	6357	SO:0001583	missense	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62021113C>T	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.4010G>A	17.37:g.62021113C>T	ENSP00000396320:p.Arg1337Gln						p.R1337Q	NM_000334	NP_000325	P35499	SCN4A_HUMAN			22	4087	-			1337					Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	ENST00000435607.1	37	c.4010G>A	CCDS45761.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.777377	0.90195	.	.	ENSG00000007314	ENST00000435607	D	0.96685	-4.09	3.55	3.55	0.40652	.	0.000000	0.85682	D	0.000000	D	0.98801	0.9596	H	0.98314	4.2	0.51012	D	0.999906	D	0.89917	1.0	D	0.71414	0.973	D	0.99104	1.0844	10	0.87932	D	0	.	14.652	0.68805	0.0:1.0:0.0:0.0	.	1337	P35499	SCN4A_HUMAN	Q	1337	ENSP00000396320:R1337Q	ENSP00000396320:R1337Q	R	-	2	0	SCN4A	59374845	1.000000	0.71417	1.000000	0.80357	0.844000	0.47949	7.602000	0.82796	1.988000	0.58038	0.448000	0.29417	CGG		0.552	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			NM_000334		4	13	0	0	0	0.001168	0	4	13		
DDX5	1655	broad.mit.edu	37	17	62499626	62499626	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr17:62499626A>C	ENST00000225792.5	-	6	972	c.571T>G	c.(571-573)Tgt>Ggt	p.C191G	MIR5047_ENST00000579212.1_RNA|DDX5_ENST00000578804.1_Missense_Mutation_p.C191G|DDX5_ENST00000580026.1_5'Flank|DDX5_ENST00000450599.2_Missense_Mutation_p.C112G|MIR3064_ENST00000581130.1_RNA	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	191	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			CATGCTCTACAATATTCAGCA	0.463			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)	uc002jek.2		NaN		Dom	yes		17	17q21	1655	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5			E	ETV4		prostate		0				ovary(2)|lung(1)	3						c.(571-573)TGT>GGT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 5							104.0	92.0	96.0					17																	62499626		2203	4300	6503	SO:0001583	missense	1655				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity	g.chr17:62499626A>C	AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"""DEAD-boxes"""	2746	protein-coding gene	gene with protein product		180630	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"""	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.571T>G	17.37:g.62499626A>C	ENSP00000225792:p.Cys191Gly					DDX5_uc010deh.2_Missense_Mutation_p.C191G|DDX5_uc002jej.2_Missense_Mutation_p.C86G|DDX5_uc010wqa.1_Missense_Mutation_p.C112G|DDX5_uc002jel.1_5'Flank	p.C191G	NM_004396	NP_004387	P17844	DDX5_HUMAN	BRCA - Breast invasive adenocarcinoma(8;8.6e-12)		6	818	-	Breast(5;2.15e-14)		191			Helicase ATP-binding.		B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Missense_Mutation	SNP	ENST00000225792.5	37	c.571T>G	CCDS11659.1	.	.	.	.	.	.	.	.	.	.	A	10.28	1.305347	0.23736	.	.	ENSG00000108654	ENST00000540698;ENST00000450599;ENST00000225792	T	0.14893	2.47	5.51	4.4	0.53042	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.100212	0.64402	D	0.000002	T	0.03651	0.0104	N	0.00841	-1.15	0.51482	D	0.999923	B;B;B	0.09022	0.001;0.002;0.002	B;B;B	0.12837	0.002;0.008;0.008	T	0.34650	-0.9820	10	0.02654	T	1	-11.2688	4.8356	0.13464	0.5006:0.248:0.0:0.2513	.	112;191;191	B4DLW8;B5BUE6;P17844	.;.;DDX5_HUMAN	G	191;121;180	ENSP00000403085:C121G	ENSP00000225792:C180G	C	-	1	0	DDX5	59930088	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	3.904000	0.56325	2.097000	0.63578	0.533000	0.62120	TGT		0.463	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444030.1		NM_004396		18	45	0	0	0	0.00278	0	18	45		
PSMD12	5718	broad.mit.edu	37	17	65337149	65337149	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr17:65337149G>A	ENST00000356126.3	-	11	1288	c.1181C>T	c.(1180-1182)tCa>tTa	p.S394L	PSMD12_ENST00000357146.4_Missense_Mutation_p.S374L	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 12	394	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|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)|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)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)				breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					TACTAGATTTGAGAGAAAGGC	0.338																																						uc002jfy.2		NaN																	0					0						c.(1180-1182)TCA>TTA		proteasome 26S non-ATPase subunit 12 isoform 1							63.0	64.0	64.0					17																	65337149		2203	4300	6503	SO:0001583	missense	5718				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding	g.chr17:65337149G>A	AB003103	CCDS11669.1, CCDS11670.1	17q24.3	2008-05-22			ENSG00000197170	ENSG00000197170		"""Proteasome (prosome, macropain) subunits"""	9557	protein-coding gene	gene with protein product		604450				9426256	Standard	NM_002816		Approved	p55, Rpn5	uc002jfy.3	O00232	OTTHUMG00000140376	ENST00000356126.3:c.1181C>T	17.37:g.65337149G>A	ENSP00000348442:p.Ser394Leu					PSMD12_uc002jga.2_Missense_Mutation_p.S374L|PSMD12_uc002jfz.2_Missense_Mutation_p.S335L	p.S394L	NM_002816	NP_002807	O00232	PSD12_HUMAN			11	1267	-	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)		394			PCI.		A6NP15|Q53HA2|Q6P053	Missense_Mutation	SNP	ENST00000356126.3	37	c.1181C>T	CCDS11669.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.820910	0.90873	.	.	ENSG00000197170	ENST00000356126;ENST00000357146	T;T	0.32988	1.43;1.43	4.81	4.81	0.61882	Winged helix-turn-helix transcription repressor DNA-binding (1);Proteasome component (PCI) domain (2);	0.000000	0.85682	D	0.000000	T	0.57577	0.2063	M	0.86343	2.81	0.80722	D	1	P;P	0.40681	0.727;0.727	P;P	0.53760	0.734;0.734	T	0.65681	-0.6109	10	0.72032	D	0.01	-8.5251	17.8938	0.88880	0.0:0.0:1.0:0.0	.	374;394	A6NP15;O00232	.;PSD12_HUMAN	L	394;374	ENSP00000348442:S394L;ENSP00000349667:S374L	ENSP00000348442:S394L	S	-	2	0	PSMD12	62767611	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	9.402000	0.97298	2.226000	0.72624	0.484000	0.47621	TCA		0.338	PSMD12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277103.1		NM_002816, NM_174871		7	18	0	0	0	0.006214	0	7	18		
KCTD2	23510	broad.mit.edu	37	17	73043506	73043506	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr17:73043506C>T	ENST00000322444.6	+	1	167	c.161C>T	c.(160-162)cCg>cTg	p.P54L	KCTD2_ENST00000584767.1_Intron|ATP5H_ENST00000344546.4_5'Flank|KCTD2_ENST00000581589.1_Intron|ATP5H_ENST00000301587.4_5'Flank	NM_015353.1	NP_056168.1	Q14681	KCTD2_HUMAN	potassium channel tetramerization domain containing 2	54				P -> R (in Ref. 1; BAA11493). {ECO:0000305}.	protein homooligomerization (GO:0051260)		protein complex binding (GO:0032403)			kidney(1)|lung(2)	3	all_lung(278;0.226)					gtcgcgcagccgctggagccg	0.811																																						uc002jmp.2		NaN																	0					0						c.(160-162)CCG>CTG		potassium channel tetramerisation domain							2.0	3.0	2.0					17																	73043506		1667	3338	5005	SO:0001583	missense	23510					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr17:73043506C>T	BC033329	CCDS32728.1	17q25.2	2013-06-20	2013-06-20			ENSG00000180901			21294	protein-coding gene	gene with protein product		613422	"""potassium channel tetramerisation domain containing 2"""			12620391	Standard	XR_248405		Approved	KIAA0176	uc002jmp.3	Q14681		ENST00000322444.6:c.161C>T	17.37:g.73043506C>T	ENSP00000312814:p.Pro54Leu					KCTD2_uc010dfy.1_Intron|KCTD2_uc010dfz.2_Intron|ATP5H_uc002jmn.1_5'Flank|ATP5H_uc002jmo.1_5'Flank|KCTD2_uc002jmq.2_Intron	p.P54L	NM_015353	NP_056168	Q14681	KCTD2_HUMAN			1	228	+	all_lung(278;0.226)		54	P -> R (in Ref. 1; BAA11493).					Missense_Mutation	SNP	ENST00000322444.6	37	c.161C>T	CCDS32728.1	.	.	.	.	.	.	.	.	.	.	C	15.10	2.731679	0.48939	.	.	ENSG00000180901	ENST00000322444	T	0.53857	0.6	3.89	0.392	0.16288	.	0.657682	0.13962	N	0.350743	T	0.29355	0.0731	N	0.14661	0.345	0.25887	N	0.983524	B	0.02656	0.0	B	0.01281	0.0	T	0.14035	-1.0487	10	0.33141	T	0.24	.	5.5491	0.17081	0.157:0.6622:0.0:0.1807	.	54	Q14681	KCTD2_HUMAN	L	54	ENSP00000312814:P54L	ENSP00000312814:P54L	P	+	2	0	KCTD2	70555101	0.463000	0.25799	0.735000	0.30896	0.048000	0.14542	1.704000	0.37857	0.251000	0.21505	0.549000	0.68633	CCG		0.811	KCTD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445538.1				8	5	0	0	0	0.00308	0	8	5		
LLGL2	3993	broad.mit.edu	37	17	73569202	73569202	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr17:73569202C>T	ENST00000392550.3	+	20	2685	c.2568C>T	c.(2566-2568)gcC>gcT	p.A856A	LLGL2_ENST00000167462.5_Silent_p.A856A|LLGL2_ENST00000577200.1_Silent_p.A856A	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	856					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			GTCGTCGAGCCGAGGACTACG	0.657																																						uc002joh.2		NaN																	0				ovary(2)	2						c.(2566-2568)GCC>GCT		lethal giant larvae homolog 2 isoform c							55.0	47.0	50.0					17																	73569202		2203	4300	6503	SO:0001819	synonymous_variant	3993				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	g.chr17:73569202C>T	X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"""WD repeat domain containing"""	6629	protein-coding gene	gene with protein product			"""lethal giant larvae (Drosophila) homolog 2"""				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.2568C>T	17.37:g.73569202C>T						LLGL2_uc002joi.2_Silent_p.A856A|LLGL2_uc010dgg.1_Silent_p.A856A|LLGL2_uc002joj.2_Silent_p.A845A|LLGL2_uc010wsd.1_Silent_p.A483A	p.A856A	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)		20	2722	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		856			WD 13.		Q14521|Q9BR62	Silent	SNP	ENST00000392550.3	37	c.2568C>T	CCDS32733.1																																																																																				0.657	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1		NM_004524		64	82	0	0	0	0.00361	0	64	82		
QRICH2	84074	broad.mit.edu	37	17	74283886	74283886	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr17:74283886G>A	ENST00000262765.5	-	6	3572	c.3393C>T	c.(3391-3393)gtC>gtT	p.V1131V		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1131										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						TTTACCTGAGGACACCCAGCT	0.557																																						uc002jrd.1		NaN																	0				ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1)	5						c.(3391-3393)GTC>GTT		glutamine rich 2							195.0	133.0	154.0					17																	74283886		2203	4300	6503	SO:0001819	synonymous_variant	84074						protein binding	g.chr17:74283886G>A	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.3393C>T	17.37:g.74283886G>A						QRICH2_uc010wsz.1_Silent_p.V1057V|QRICH2_uc010dgw.1_5'UTR	p.V1131V	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN			6	3573	-			1131			Potential.		A2RRE1|Q96LM3	Silent	SNP	ENST00000262765.5	37	c.3393C>T	CCDS32741.1																																																																																				0.557	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1		NM_032134		12	49	0	0	0	0.00245	0	12	49		
MFSD11	79157	broad.mit.edu	37	17	74737129	74737129	+	Silent	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr17:74737129C>G	ENST00000588460.1	+	3	2285	c.243C>G	c.(241-243)gcC>gcG	p.A81A	MFSD11_ENST00000355954.3_Silent_p.A81A|MFSD11_ENST00000586622.1_Silent_p.A81A|MFSD11_ENST00000336509.4_Silent_p.A81A|MFSD11_ENST00000590514.1_Silent_p.A81A|MFSD11_ENST00000593181.1_Silent_p.A81A	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	81						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						CTATGTTTGCCAGTGGTTTAT	0.363																																						uc002jta.2		NaN																	0				ovary(1)	1						c.(241-243)GCC>GCG		major facilitator superfamily domain containing							212.0	195.0	201.0					17																	74737129		2203	4300	6503	SO:0001819	synonymous_variant	79157					integral to membrane		g.chr17:74737129C>G	BC002753	CCDS11750.1, CCDS56045.1	17q25.1	2012-03-09			ENSG00000092931	ENSG00000092931			25458	protein-coding gene	gene with protein product						9358160	Standard	NM_001242532		Approved	FLJ22196, FLJ20226	uc002jte.3	O43934		ENST00000588460.1:c.243C>G	17.37:g.74737129C>G						MFSD11_uc002jtb.2_Silent_p.A81A|MFSD11_uc010dha.2_Silent_p.A81A|MFSD11_uc002jtc.2_Silent_p.A81A|MFSD11_uc002jtd.3_Silent_p.A81A|MFSD11_uc010dhb.2_Silent_p.A81A|MFSD11_uc002jte.2_Silent_p.A81A	p.A81A	NM_024311	NP_077287	O43934	MFS11_HUMAN			4	1216	+			81			Helical; (Potential).		O43442|Q9NXI5	Silent	SNP	ENST00000588460.1	37	c.243C>G	CCDS11750.1																																																																																				0.363	MFSD11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451516.1		NM_024311		26	41	0	0	0	0.005443	0	26	41		
NPLOC4	55666	broad.mit.edu	37	17	79580442	79580442	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr17:79580442G>A	ENST00000331134.6	-	4	503	c.288C>T	c.(286-288)ggC>ggT	p.G96G	NPLOC4_ENST00000574344.1_5'UTR|NPLOC4_ENST00000539314.1_5'UTR|NPLOC4_ENST00000374747.5_Silent_p.G96G	NM_017921.2	NP_060391.2	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	96					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)	endoplasmic reticulum (GO:0005783)|nuclear outer membrane-endoplasmic reticulum membrane network (GO:0042175)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			AGACTTTGAAGCCCGGTGGAA	0.517																																						uc002kat.3		NaN																	0				ovary(1)|central_nervous_system(1)	2						c.(286-288)GGC>GGT		nuclear protein localization 4							101.0	95.0	97.0					17																	79580442		1967	4141	6108	SO:0001819	synonymous_variant	55666				cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding	g.chr17:79580442G>A	AB040932	CCDS45812.1	17q25.3	2012-09-20			ENSG00000182446	ENSG00000182446			18261	protein-coding gene	gene with protein product		606590				11574150, 10811609	Standard	NM_017921		Approved	NPL4, FLJ20657, KIAA1499	uc002kas.3	Q8TAT6	OTTHUMG00000177990	ENST00000331134.6:c.288C>T	17.37:g.79580442G>A						NPLOC4_uc002kau.3_Silent_p.G96G|NPLOC4_uc010wur.1_5'UTR	p.G96G	NM_017921	NP_060391	Q8TAT6	NPL4_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)		4	470	-	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		96					Q8N3J1|Q9H8V2|Q9H964|Q9NWR5|Q9P229	Silent	SNP	ENST00000331134.6	37	c.288C>T	CCDS45812.1																																																																																				0.517	NPLOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440140.1				3	26	0	0	0	0.004672	0	3	26		
RBBP8	5932	broad.mit.edu	37	18	20581688	20581688	+	Silent	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr18:20581688A>G	ENST00000399722.2	+	15	2634	c.2283A>G	c.(2281-2283)ctA>ctG	p.L761L	RBBP8_ENST00000327155.5_Silent_p.L761L|RN7SL745P_ENST00000484900.2_RNA|RBBP8_ENST00000360790.5_Silent_p.L766L|RBBP8_ENST00000399725.2_Silent_p.L761L	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	761					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			CAAAGAAACTACACAGTAAGA	0.373								Homologous recombination																														uc002ktw.2		NaN																	0				ovary(1)|lung(1)|skin(1)	3						c.(2281-2283)CTA>CTG	Direct_reversal_of_damage|Homologous_recombination	retinoblastoma binding protein 8 isoform a							108.0	111.0	110.0					18																	20581688		2203	4300	6503	SO:0001819	synonymous_variant	5932				cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr18:20581688A>G	AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"""CTBP-interacting protein"""	604124	"""retinoblastoma-binding protein 8"", ""Seckel syndrome 2"""	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.2283A>G	18.37:g.20581688A>G						RBBP8_uc002kty.2_Silent_p.L761L|RBBP8_uc002ktz.2_Silent_p.L761L|RBBP8_uc002kua.2_Silent_p.L766L|RBBP8_uc010xap.1_Silent_p.L99L	p.L761L	NM_002894	NP_002885	Q99708	COM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;0.00196)		15	2614	+	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		761					A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Silent	SNP	ENST00000399722.2	37	c.2283A>G	CCDS11875.1																																																																																				0.373	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446387.1		NM_203291		8	16	0	0	0	0.00308	0	8	16		
LAMA3	3909	broad.mit.edu	37	18	21485588	21485588	+	Splice_Site	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr18:21485588G>T	ENST00000313654.9	+	52	6959	c.6718G>T	c.(6718-6720)Gaa>Taa	p.E2240*	LAMA3_ENST00000587184.1_Splice_Site_p.E575*|LAMA3_ENST00000269217.6_Splice_Site_p.E631*|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000399516.3_Splice_Site_p.E2184*	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2240	Domain II and I.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					GCTAAAGCAAGGTATTAGGGG	0.438																																						uc002kuq.2		NaN																	0				ovary(8)|skin(2)|central_nervous_system(1)	11						c.(6718-6720)GAA>TAA		laminin alpha 3 subunit isoform 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						79.0	74.0	76.0					18																	21485588		2203	4300	6503	SO:0001630	splice_region_variant	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21485588G>T	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.6718+1G>T	18.37:g.21485588G>T						LAMA3_uc002kur.2_Nonsense_Mutation_p.E2184*|LAMA3_uc002kus.3_Nonsense_Mutation_p.E631*|LAMA3_uc002kut.3_Nonsense_Mutation_p.E575*	p.E2240*	NM_198129	NP_937762	Q16787	LAMA3_HUMAN			52	6804	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		2240			Domain II and I.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Nonsense_Mutation	SNP	ENST00000313654.9	37	c.6718G>T	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	G	48	13.991163	0.99774	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000269217	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	18.6774	0.91534	0.0:0.0:1.0:0.0	.	.	.	.	X	2240;2184;631	.	ENSP00000269217:E631X	E	+	1	0	LAMA3	19739586	1.000000	0.71417	1.000000	0.80357	0.740000	0.42216	6.972000	0.76110	2.490000	0.84030	0.655000	0.94253	GAA		0.438	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3		NM_000227, NM_198129	Nonsense_Mutation	3	19	1	0	0.00909568	0.009096	0.00924656	3	19		
CDH2	1000	broad.mit.edu	37	18	25532201	25532201	+	Silent	SNP	A	A	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr18:25532201A>C	ENST00000269141.3	-	16	3060	c.2637T>G	c.(2635-2637)ggT>ggG	p.G879G	CDH2_ENST00000399380.3_Silent_p.G848G|AC015933.2_ENST00000423367.1_RNA	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	879					adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CCTGCTCACCACCACTACTTG	0.507											OREG0003876	type=REGULATORY REGION|Gene=CDH2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										uc002kwg.2		NaN																	0				ovary(3)|lung(1)	4						c.(2635-2637)GGT>GGG		cadherin 2, type 1 preproprotein							123.0	115.0	118.0					18																	25532201		2203	4300	6503	SO:0001819	synonymous_variant	1000				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding	g.chr18:25532201A>C	S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.2637T>G	18.37:g.25532201A>C			OREG0003876	type=REGULATORY REGION|Gene=CDH2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	779	CDH2_uc010xbn.1_Silent_p.G848G	p.G879G	NM_001792	NP_001783	P19022	CADH2_HUMAN			16	3096	-			879			Cytoplasmic (Potential).		A8MWK3|B0YIY6|Q14923|Q8N173	Silent	SNP	ENST00000269141.3	37	c.2637T>G	CCDS11891.1																																																																																				0.507	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133246.3		NM_001792		14	68	0	0	0	0.004007	0	14	68		
MAPRE2	10982	broad.mit.edu	37	18	32621508	32621508	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr18:32621508C>T	ENST00000300249.5	+	1	185	c.5C>T	c.(4-6)cCt>cTt	p.P2L	MAPRE2_ENST00000589699.1_5'Flank|MAPRE2_ENST00000413393.1_Intron|MAPRE2_ENST00000436190.2_Intron|MAPRE2_ENST00000538170.2_5'UTR|MAPRE2_ENST00000588910.1_Missense_Mutation_p.P2L	NM_014268.3	NP_055083.1	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family, member 2	2					cell proliferation (GO:0008283)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						GCGCCAATGCCTGGGCCGACC	0.612																																						uc002kyg.2		NaN																	0				ovary(1)	1						c.(4-6)CCT>CTT		microtubule-associated protein, RP/EB family,							137.0	112.0	120.0					18																	32621508		2203	4300	6503	SO:0001583	missense	10982				cell division|cell proliferation|mitosis|signal transduction	cytoplasm|microtubule	microtubule binding	g.chr18:32621508C>T	X94232	CCDS11910.1, CCDS45850.1, CCDS45851.1, CCDS58619.1	18q12.1	2013-01-17			ENSG00000166974	ENSG00000166974			6891	protein-coding gene	gene with protein product	"""APC-binding protein EB1"""	605789				9233623, 12475954	Standard	NM_001143826		Approved	RP1, EB1, EB2	uc010xcc.3	Q15555	OTTHUMG00000132551	ENST00000300249.5:c.5C>T	18.37:g.32621508C>T	ENSP00000300249:p.Pro2Leu					MAPRE2_uc010xcb.1_Intron|MAPRE2_uc010xcc.1_Intron|MAPRE2_uc002kyf.2_Missense_Mutation_p.P2L|MAPRE2_uc002kyh.2_5'UTR|MAPRE2_uc010xcd.1_5'Flank	p.P2L	NM_014268	NP_055083	Q15555	MARE2_HUMAN			1	185	+			2					B2RE21|B3KR39|B4DJV4|B7Z2L3|E9PHR3|F5H1V8|G5E9I6|Q9UQ33	Missense_Mutation	SNP	ENST00000300249.5	37	c.5C>T	CCDS11910.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372429	0.82573	.	.	ENSG00000166974	ENST00000300249	T	0.52754	0.65	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.49541	0.1563	N	0.08118	0	0.80722	D	1	D;D	0.71674	0.998;0.997	D;D	0.78314	0.981;0.991	T	0.59710	-0.7403	10	0.87932	D	0	-9.7191	15.1411	0.72612	0.0:1.0:0.0:0.0	.	2;2	Q15555;Q15555-2	MARE2_HUMAN;.	L	2	ENSP00000300249:P2L	ENSP00000300249:P2L	P	+	2	0	MAPRE2	30875506	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.853000	0.75435	2.655000	0.90218	0.655000	0.94253	CCT		0.612	MAPRE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255753.2		NM_014268		75	83	0	0	0	0.00361	0	75	83		
PIK3C3	5289	broad.mit.edu	37	18	39637870	39637870	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr18:39637870G>A	ENST00000262039.4	+	22	2373	c.2287G>A	c.(2287-2289)Gga>Aga	p.G763R	PIK3C3_ENST00000588156.1_5'UTR|PIK3C3_ENST00000593098.1_Missense_Mutation_p.G248R|PIK3C3_ENST00000398870.3_Missense_Mutation_p.G700R	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	763	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						CATAGACTTTGGATATATTTT	0.418										TSP Lung(28;0.18)																											NSCLC(37;552 1060 2683 16430 37914)	uc002lap.2		NaN																	0				lung(8)|ovary(1)|breast(1)	10						c.(2287-2289)GGA>AGA		catalytic phosphatidylinositol 3-kinase 3							67.0	67.0	67.0					18																	39637870		2203	4300	6503	SO:0001583	missense	5289				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding	g.chr18:39637870G>A	Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"""phosphoinositide-3-kinase, class 3"""			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.2287G>A	18.37:g.39637870G>A	ENSP00000262039:p.Gly763Arg	TSP Lung(28;0.18)				PIK3C3_uc010xcl.1_Missense_Mutation_p.G700R|PIK3C3_uc002laq.2_Missense_Mutation_p.G248R	p.G763R	NM_002647	NP_002638	Q8NEB9	PK3C3_HUMAN			22	2345	+			763			PI3K/PI4K.		Q15134	Missense_Mutation	SNP	ENST00000262039.4	37	c.2287G>A	CCDS11920.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669368	0.88348	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	D;D	0.85702	-2.02;-2.02	5.09	5.09	0.68999	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.103999	0.64402	D	0.000003	D	0.96216	0.8766	H	0.99600	4.65	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.995	D	0.98501	1.0614	9	.	.	.	.	18.1078	0.89526	0.0:0.0:1.0:0.0	.	700;763	A8MYT4;Q8NEB9	.;PK3C3_HUMAN	R	763;700	ENSP00000262039:G763R;ENSP00000381845:G700R	.	G	+	1	0	PIK3C3	37891868	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.397000	0.97276	2.362000	0.80069	0.555000	0.69702	GGA		0.418	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255804.1		NM_002647		9	14	0	0	0	0.000978	0	9	14		
MAPK4	5596	broad.mit.edu	37	18	48255680	48255680	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr18:48255680G>A	ENST00000400384.2	+	6	2256	c.1220G>A	c.(1219-1221)cGc>cAc	p.R407H	MAPK4_ENST00000540640.1_Missense_Mutation_p.R196H|MAPK4_ENST00000592595.1_3'UTR	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	407					cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		AGCTCCGAGCGCTTCCTAGAG	0.692																																						uc002lev.2		NaN																	0				lung(4)|skin(2)	6						c.(1219-1221)CGC>CAC		mitogen-activated protein kinase 4							11.0	15.0	14.0					18																	48255680		2060	4200	6260	SO:0001583	missense	5596				cell cycle		ATP binding|MAP kinase activity	g.chr18:48255680G>A	X59727	CCDS42437.1	18q21.1	2012-10-02			ENSG00000141639	ENSG00000141639		"""Mitogen-activated protein kinase cascade / Kinases"""	6878	protein-coding gene	gene with protein product		176949		PRKM4		8290275	Standard	XM_005258299		Approved	Erk3-related, Erk4	uc002lev.3	P31152	OTTHUMG00000179853	ENST00000400384.2:c.1220G>A	18.37:g.48255680G>A	ENSP00000383234:p.Arg407His					MAPK4_uc010xdm.1_Missense_Mutation_p.R196H|MAPK4_uc010doz.2_3'UTR	p.R407H	NM_002747	NP_002738	P31152	MK04_HUMAN		Colorectal(21;0.156)	6	2220	+		Colorectal(6;0.0297)	407					A1A4C4|Q0VG04	Missense_Mutation	SNP	ENST00000400384.2	37	c.1220G>A	CCDS42437.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.553852	0.86231	.	.	ENSG00000141639	ENST00000400384;ENST00000540640	T;T	0.74315	-0.83;0.99	5.51	4.64	0.57946	.	0.000000	0.56097	D	0.000031	T	0.77485	0.4137	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	T	0.79829	-0.1638	10	0.66056	D	0.02	-17.3594	13.3571	0.60633	0.0774:0.0:0.9226:0.0	.	407	P31152	MK04_HUMAN	H	407;196	ENSP00000383234:R407H;ENSP00000439231:R196H	ENSP00000383234:R407H	R	+	2	0	MAPK4	46509678	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	5.197000	0.65141	1.318000	0.45170	0.561000	0.74099	CGC		0.692	MAPK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448631.2		NM_002747		14	9	0	0	0	0.00499	0	14	9		
APC2	10297	broad.mit.edu	37	19	1462114	1462114	+	Silent	SNP	C	C	T	rs142142534		TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:1462114C>T	ENST00000535453.1	+	13	3504	c.1791C>T	c.(1789-1791)atC>atT	p.I597I	APC2_ENST00000233607.2_Silent_p.I597I|C19orf25_ENST00000588427.1_Intron|CTB-25B13.12_ENST00000588225.1_RNA|APC2_ENST00000238483.4_Silent_p.I323I			P02655	APOC2_HUMAN	adenomatosis polyposis coli 2	0					cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|chylomicron remnant clearance (GO:0034382)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle clearance (GO:0034384)|lipid catabolic process (GO:0016042)|lipoprotein metabolic process (GO:0042157)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of receptor-mediated endocytosis (GO:0048261)|negative regulation of very-low-density lipoprotein particle clearance (GO:0010916)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipid catabolic process (GO:0060697)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|triglyceride homeostasis (GO:0070328)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)|very-low-density lipoprotein particle remodeling (GO:0034372)	chylomicron (GO:0042627)|early endosome (GO:0005769)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate-density lipoprotein particle (GO:0034363)|low-density lipoprotein particle (GO:0034362)|spherical high-density lipoprotein particle (GO:0034366)|very-low-density lipoprotein particle (GO:0034361)	lipase inhibitor activity (GO:0055102)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGCCATCATCGAGAGCGGCG	0.667																																						uc002lsr.1		NaN																	0				breast(3)|pancreas(1)	4						c.(1789-1791)ATC>ATT		adenomatosis polyposis coli 2		C		0,4406		0,0,2203	54.0	45.0	48.0		1791	-1.8	1.0	19	dbSNP_134	48	2,8596	2.2+/-6.3	0,2,4297	no	coding-synonymous	APC2	NM_005883.2		0,2,6500	TT,TC,CC		0.0233,0.0,0.0154		597/2304	1462114	2,13002	2203	4299	6502	SO:0001819	synonymous_variant	10297				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding	g.chr19:1462114C>T		CCDS12068.1	19p13.3	2013-02-14			ENSG00000115266	ENSG00000115266		"""Armadillo repeat containing"""	24036	protein-coding gene	gene with protein product	"""adenomatous polyposis coli like"""	612034				9823329, 10021369	Standard	XM_005259475		Approved	APCL	uc002lsr.1	O95996		ENST00000535453.1:c.1791C>T	19.37:g.1462114C>T						APC2_uc002lss.1_Silent_p.I179I|APC2_uc002lst.1_Silent_p.I597I|APC2_uc002lsu.1_Silent_p.I596I|C19orf25_uc010xgn.1_Intron	p.I597I	NM_005883	NP_005874	O95996	APC2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	14	1999	+		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)	597			ARM 4.		C0JYY4|Q9BS39|Q9UDE3|Q9UNK3	Silent	SNP	ENST00000535453.1	37	c.1791C>T	CCDS12068.1																																																																																				0.667	APC2-004	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449539.2		NM_005883		37	128	0	0	0	0.00361	0	37	128		
ATP8B3	148229	broad.mit.edu	37	19	1785276	1785276	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:1785276G>C	ENST00000310127.6	-	27	3652	c.3414C>G	c.(3412-3414)taC>taG	p.Y1138*	ATP8B3_ENST00000539485.1_Nonsense_Mutation_p.Y1148*|ATP8B3_ENST00000525591.1_Nonsense_Mutation_p.Y1101*	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1138					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGCGGTCCAGTACTTGATGA	0.607																																						uc002ltw.2		NaN																	0					0						c.(3412-3414)TAC>TAG		ATPase, class I, type 8B, member 3							40.0	48.0	46.0					19																	1785276		2190	4291	6481	SO:0001587	stop_gained	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1785276G>C	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.3414C>G	19.37:g.1785276G>C	ENSP00000311336:p.Tyr1138*					ATP8B3_uc002ltv.2_Nonsense_Mutation_p.Y1101*|ATP8B3_uc002ltx.2_RNA	p.Y1138*	NM_138813	NP_620168	O60423	AT8B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	27	3648	-		Hepatocellular(1079;0.137)	1138			Cytoplasmic (Potential).		Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Nonsense_Mutation	SNP	ENST00000310127.6	37	c.3414C>G	CCDS45901.1	.	.	.	.	.	.	.	.	.	.	G	40	8.066250	0.98638	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591	.	.	.	4.49	4.49	0.54785	.	0.230858	0.37857	N	0.001904	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9407	0.41578	0.0948:0.0:0.9052:0.0	.	.	.	.	X	1138;1148;1101	.	ENSP00000311336:Y1138X	Y	-	3	2	ATP8B3	1736276	1.000000	0.71417	0.997000	0.53966	0.112000	0.19704	3.469000	0.53093	2.042000	0.60477	0.655000	0.94253	TAC		0.607	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1		NM_138813		4	27	0	0	0	0.001168	0	4	27		
FZR1	51343	broad.mit.edu	37	19	3534500	3534500	+	Missense_Mutation	SNP	C	C	T	rs376637192		TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:3534500C>T	ENST00000395095.3	+	12	1429	c.1429C>T	c.(1429-1431)Cgt>Tgt	p.R477C	FZR1_ENST00000313639.8_Missense_Mutation_p.R388C|FZR1_ENST00000441788.2_Missense_Mutation_p.R477C	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	477					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|lens fiber cell differentiation (GO:0070306)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell aging (GO:0090344)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		TAGCAAAACCCGTTCGACAAA	0.627																																						uc010dtk.2		NaN																	0				lung(1)|kidney(1)	2						c.(1429-1431)CGT>TGT		Fzr1 protein isoform 1		C	CYS/ARG,CYS/ARG,CYS/ARG	0,4398		0,0,2199	107.0	86.0	93.0		1162,1429,1429	4.8	1.0	19		93	1,8595		0,1,4297	no	missense,missense,missense	FZR1	NM_001136197.1,NM_001136198.1,NM_016263.3	180,180,180	0,1,6496	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	388/405,477/497,477/494	3534500	1,12993	2199	4298	6497	SO:0001583	missense	51343				activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding	g.chr19:3534500C>T	AF083810	CCDS12109.1, CCDS45916.1, CCDS45917.1	19p13.3	2013-01-10				ENSG00000105325		"""WD repeat domain containing"""	24824	protein-coding gene	gene with protein product		603619				9734353, 11003657	Standard	NM_016263		Approved	HCDH1, CDH1, HCDH, FZR, FZR2, KIAA1242, CDC20C	uc010dtk.2	Q9UM11		ENST00000395095.3:c.1429C>T	19.37:g.3534500C>T	ENSP00000378529:p.Arg477Cys					FZR1_uc002lxt.2_Missense_Mutation_p.R477C|FZR1_uc002lxv.2_Missense_Mutation_p.R388C	p.R477C	NM_001136198	NP_001129670	Q9UM11	FZR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	12	1463	+			477			WD 7.		O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	Missense_Mutation	SNP	ENST00000395095.3	37	c.1429C>T	CCDS45916.1	.	.	.	.	.	.	.	.	.	.	C	17.84	3.486715	0.63962	0.0	1.16E-4	ENSG00000105325	ENST00000441788;ENST00000395095;ENST00000313639	T;T;T	0.57595	0.39;0.54;0.39	4.82	4.82	0.62117	WD40-repeat-containing domain (1);	0.054549	0.64402	D	0.000001	T	0.53318	0.1789	N	0.05259	-0.085	0.80722	D	1	B;B;D	0.89917	0.056;0.125;1.0	B;B;D	0.97110	0.022;0.027;1.0	T	0.64071	-0.6493	10	0.51188	T	0.08	-18.1713	16.8403	0.85967	0.0:1.0:0.0:0.0	.	477;388;477	Q9UM11;Q9UM11-3;Q9UM11-2	FZR_HUMAN;.;.	C	477;477;388	ENSP00000410369:R477C;ENSP00000378529:R477C;ENSP00000321800:R388C	ENSP00000321800:R388C	R	+	1	0	FZR1	3485500	1.000000	0.71417	0.992000	0.48379	0.983000	0.72400	5.826000	0.69293	2.381000	0.81170	0.561000	0.74099	CGT		0.627	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452869.2		NM_016263		4	12	0	0	0	0.009096	0	4	12		
ZBTB7A	51341	broad.mit.edu	37	19	4047820	4047820	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:4047820C>T	ENST00000322357.4	-	3	1963	c.1685G>A	c.(1684-1686)gGt>gAt	p.G562D	ZBTB7A_ENST00000601588.1_Missense_Mutation_p.G562D	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	562	Poly-Gly.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCTCCTCCACCGGCGCCCGC	0.642																																						uc002lzh.2		NaN																	0				pancreas(1)|skin(1)	2						c.(1684-1686)GGT>GAT		zinc finger and BTB domain containing 7A							23.0	23.0	23.0					19																	4047820		2195	4295	6490	SO:0001583	missense	51341				cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding	g.chr19:4047820C>T	AF000561	CCDS12119.1	19p13.3	2013-01-08		2005-04-07		ENSG00000178951		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18078	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 7A, HIV-1 inducer of short transcripts binding protein"", ""lymphoma related factor"""	605878	"""zinc finger and BTB domain containing 7"""	ZBTB7		9973611, 9927193	Standard	NM_015898		Approved	FBI-1, LRF, DKFZp547O146, pokemon, ZNF857A	uc002lzi.3	O95365		ENST00000322357.4:c.1685G>A	19.37:g.4047820C>T	ENSP00000323670:p.Gly562Asp					ZBTB7A_uc002lzi.2_Missense_Mutation_p.G562D	p.G562D	NM_015898	NP_056982	O95365	ZBT7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)	3	1760	-		Hepatocellular(1079;0.137)	562			Poly-Gly.		D6W619|O00456|Q14D41|Q5XG86	Missense_Mutation	SNP	ENST00000322357.4	37	c.1685G>A	CCDS12119.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.340123	0.24339	.	.	ENSG00000178951	ENST00000322357	T	0.15603	2.41	2.38	-0.207	0.13189	.	1.372050	0.05624	U	0.580486	T	0.10294	0.0252	N	0.14661	0.345	0.09310	N	1	B	0.13594	0.008	B	0.11329	0.006	T	0.38351	-0.9665	10	0.25106	T	0.35	.	7.9982	0.30280	0.0:0.4553:0.5447:0.0	.	562	O95365	ZBT7A_HUMAN	D	562	ENSP00000323670:G562D	ENSP00000323670:G562D	G	-	2	0	ZBTB7A	3998820	0.001000	0.12720	0.005000	0.12908	0.094000	0.18550	1.148000	0.31614	-0.077000	0.12752	0.549000	0.68633	GGT		0.642	ZBTB7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457621.2		NM_015898		16	69	0	0	0	0.001882	0	16	69		
S1PR5	53637	broad.mit.edu	37	19	10625203	10625203	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:10625203G>A	ENST00000439028.3	-	2	610	c.485C>T	c.(484-486)tCg>tTg	p.S162L	S1PR5_ENST00000333430.4_Missense_Mutation_p.S162L	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	162					regulation of neuron differentiation (GO:0045664)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sphingosine-1-phosphate receptor activity (GO:0038036)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12					Fingolimod(DB08868)	GAGGAGCAGCGACACGCCCCA	0.726																																						uc002mot.1		NaN																	0				central_nervous_system(1)|pancreas(1)	2						c.(484-486)TCG>TTG		endothelial differentiation, sphingolipid							8.0	9.0	9.0					19																	10625203		2155	4245	6400	SO:0001583	missense	53637					integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity	g.chr19:10625203G>A	AK074661	CCDS12240.1	19p13.2	2012-08-08	2008-04-30	2008-04-30		ENSG00000180739		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"""	14299	protein-coding gene	gene with protein product		605146	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 8"""	EDG8		10799507	Standard	NM_030760		Approved	Edg-8	uc002mou.2	Q9H228		ENST00000439028.3:c.485C>T	19.37:g.10625203G>A	ENSP00000416915:p.Ser162Leu					S1PR5_uc002mou.1_Missense_Mutation_p.S162L	p.S162L	NM_030760	NP_110387	Q9H228	S1PR5_HUMAN			2	542	-			162			Helical; Name=4; (By similarity).		Q6NW11	Missense_Mutation	SNP	ENST00000439028.3	37	c.485C>T	CCDS12240.1	.	.	.	.	.	.	.	.	.	.	g	18.26	3.583768	0.65992	.	.	ENSG00000180739	ENST00000439028;ENST00000333430;ENST00000359134	T;T	0.46819	0.86;0.86	3.9	3.9	0.45041	GPCR, rhodopsin-like superfamily (1);	0.077746	0.52532	U	0.000061	T	0.50531	0.1621	M	0.85462	2.755	0.43084	D	0.99474	P	0.41159	0.74	B	0.34489	0.184	T	0.66019	-0.6027	10	0.66056	D	0.02	.	14.8018	0.69922	0.0:0.0:1.0:0.0	.	162	Q9H228	S1PR5_HUMAN	L	162	ENSP00000416915:S162L;ENSP00000328472:S162L	ENSP00000328472:S162L	S	-	2	0	S1PR5	10486203	0.999000	0.42202	0.988000	0.46212	0.564000	0.35744	7.551000	0.82182	2.016000	0.59253	0.306000	0.20318	TCG		0.726	S1PR5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452015.1		NM_030760		9	9	0	0	0	0.000978	0	9	9		
ZNF136	7695	broad.mit.edu	37	19	12298627	12298627	+	Silent	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:12298627T>C	ENST00000343979.4	+	4	1574	c.1434T>C	c.(1432-1434)tgT>tgC	p.C478C	ZNF136_ENST00000398616.2_Silent_p.C412C	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	478					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						CCTTTGAATGTAAGCGATGTG	0.418																																						uc002mti.2		NaN																	0				ovary(1)|pancreas(1)	2						c.(1432-1434)TGT>TGC		zinc finger protein 136							94.0	86.0	88.0					19																	12298627		2203	4300	6503	SO:0001819	synonymous_variant	7695				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr19:12298627T>C	U09367	CCDS32916.1	19p13.2	2013-01-08	2006-06-13		ENSG00000196646	ENSG00000196646		"""Zinc fingers, C2H2-type"", ""-"""	12920	protein-coding gene	gene with protein product		604078	"""zinc finger protein 136 (clone pHZ-20)"""			7557990	Standard	NM_003437		Approved	pHZ-20	uc002mti.3	P52737	OTTHUMG00000156429	ENST00000343979.4:c.1434T>C	19.37:g.12298627T>C						ZNF136_uc010xmh.1_Silent_p.C412C	p.C478C	NM_003437	NP_003428	P52737	ZN136_HUMAN			4	1534	+			478			C2H2-type 13.			Silent	SNP	ENST00000343979.4	37	c.1434T>C	CCDS32916.1																																																																																				0.418	ZNF136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344151.2		NM_003437		11	9	0	0	0	0.008291	0	11	9		
JUNB	3726	broad.mit.edu	37	19	12903008	12903008	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:12903008A>C	ENST00000302754.4	+	1	699	c.423A>C	c.(421-423)aaA>aaC	p.K141N		NM_002229.2	NP_002220.1	P17275	JUNB_HUMAN	jun B proto-oncogene	141					cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|decidualization (GO:0046697)|embryonic process involved in female pregnancy (GO:0060136)|gene expression (GO:0010467)|labyrinthine layer blood vessel development (GO:0060716)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|osteoclast differentiation (GO:0030316)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|vasculogenesis (GO:0001570)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						GCTTTGTCAAAGCCCTGGACG	0.711																																						uc002mvc.2		NaN																	0				lung(2)|central_nervous_system(1)	3						c.(421-423)AAA>AAC		jun B proto-oncogene							10.0	9.0	9.0					19																	12903008		2104	4171	6275	SO:0001583	missense	3726					chromatin|nucleus	protein dimerization activity|transcription coactivator activity|transcription corepressor activity	g.chr19:12903008A>C	M29039	CCDS12280.1	19p13.13	2013-01-10				ENSG00000171223		"""basic leucine zipper proteins"""	6205	protein-coding gene	gene with protein product		165161				2513129	Standard	NM_002229		Approved		uc002mvc.3	P17275		ENST00000302754.4:c.423A>C	19.37:g.12903008A>C	ENSP00000303315:p.Lys141Asn					JUNB_uc002mvb.2_RNA	p.K141N	NM_002229	NP_002220	P17275	JUNB_HUMAN			1	699	+			141					Q96GH3	Missense_Mutation	SNP	ENST00000302754.4	37	c.423A>C	CCDS12280.1	.	.	.	.	.	.	.	.	.	.	A	18.88	3.716532	0.68844	.	.	ENSG00000171223	ENST00000302754	T	0.38077	1.16	4.53	3.52	0.40303	Jun-like transcription factor (1);	0.000000	0.85682	U	0.000000	T	0.56156	0.1966	M	0.83118	2.625	0.54753	D	0.999987	D	0.76494	0.999	D	0.83275	0.996	T	0.59300	-0.7480	10	0.72032	D	0.01	-3.3078	4.7446	0.13031	0.7086:0.0:0.2914:0.0	.	141	P17275	JUNB_HUMAN	N	141	ENSP00000303315:K141N	ENSP00000303315:K141N	K	+	3	2	JUNB	12764008	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.680000	0.25306	1.675000	0.50919	0.448000	0.29417	AAA		0.711	JUNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451015.1		NM_002229		6	13	0	0	0	0.001168	0	6	13		
JUNB	3726	broad.mit.edu	37	19	12903565	12903565	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:12903565A>G	ENST00000302754.4	+	1	1256	c.980A>G	c.(979-981)aAg>aGg	p.K327R		NM_002229.2	NP_002220.1	P17275	JUNB_HUMAN	jun B proto-oncogene	327	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				cellular response to calcium ion (GO:0071277)|cellular response to hormone stimulus (GO:0032870)|decidualization (GO:0046697)|embryonic process involved in female pregnancy (GO:0060136)|gene expression (GO:0010467)|labyrinthine layer blood vessel development (GO:0060716)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|osteoclast differentiation (GO:0030316)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to light stimulus (GO:0009416)|response to mechanical stimulus (GO:0009612)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|vasculogenesis (GO:0001570)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						CTCAAACAGAAGGTCATGACC	0.652																																						uc002mvc.2		NaN																	0				lung(2)|central_nervous_system(1)	3						c.(979-981)AAG>AGG		jun B proto-oncogene							34.0	32.0	33.0					19																	12903565		2202	4300	6502	SO:0001583	missense	3726					chromatin|nucleus	protein dimerization activity|transcription coactivator activity|transcription corepressor activity	g.chr19:12903565A>G	M29039	CCDS12280.1	19p13.13	2013-01-10				ENSG00000171223		"""basic leucine zipper proteins"""	6205	protein-coding gene	gene with protein product		165161				2513129	Standard	NM_002229		Approved		uc002mvc.3	P17275		ENST00000302754.4:c.980A>G	19.37:g.12903565A>G	ENSP00000303315:p.Lys327Arg					JUNB_uc002mvb.2_RNA	p.K327R	NM_002229	NP_002220	P17275	JUNB_HUMAN			1	1256	+			327					Q96GH3	Missense_Mutation	SNP	ENST00000302754.4	37	c.980A>G	CCDS12280.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.053304	0.75960	.	.	ENSG00000171223	ENST00000302754	T	0.47528	0.84	4.08	4.08	0.47627	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.060049	0.64402	U	0.000004	T	0.33059	0.0850	L	0.38531	1.155	0.48511	D	0.999663	P	0.41366	0.747	B	0.36504	0.226	T	0.15122	-1.0448	10	0.51188	T	0.08	-7.7167	7.1284	0.25486	0.8939:0.0:0.1061:0.0	.	327	P17275	JUNB_HUMAN	R	327	ENSP00000303315:K327R	ENSP00000303315:K327R	K	+	2	0	JUNB	12764565	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.217000	0.72218	1.496000	0.48567	0.368000	0.22195	AAG		0.652	JUNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451015.1		NM_002229		22	27	0	0	0	0.004656	0	22	27		
CPAMD8	27151	broad.mit.edu	37	19	17012070	17012070	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:17012070C>G	ENST00000443236.1	-	36	4895	c.4864G>C	c.(4864-4866)Gag>Cag	p.E1622Q		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1575						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AGGGGCACCTCCAGGACAGCC	0.607																																						uc002nfb.2		NaN																	0				ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1)	13						c.(4864-4866)GAG>CAG		C3 and PZP-like, alpha-2-macroglobulin domain							25.0	28.0	27.0					19																	17012070		1982	4164	6146	SO:0001583	missense	27151					extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr19:17012070C>G	AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.4864G>C	19.37:g.17012070C>G	ENSP00000402505:p.Glu1622Gln					CPAMD8_uc002nfd.1_Missense_Mutation_p.E87Q	p.E1622Q	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN			36	4896	-			1575					Q8NC09|Q9ULD7	Missense_Mutation	SNP	ENST00000443236.1	37	c.4864G>C	CCDS42519.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.4|21.4	4.141159|4.141159	0.77775|0.77775	.|.	.|.	ENSG00000160111|ENSG00000160111	ENST00000291440|ENST00000443236	.|.	.|.	.|.	3.29|3.29	3.29|3.29	0.37713|0.37713	Alpha-macroglobulin, receptor-binding (3);|.	0.236587|.	0.34046|.	U|.	0.004315|.	T|T	0.78240|0.78240	0.4252|0.4252	M|M	0.86573|0.86573	2.825|2.825	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.76575|.	0.988|.	T|T	0.82230|0.82230	-0.0560|-0.0560	9|5	0.87932|.	D|.	0|.	.|.	14.6299|14.6299	0.68647|0.68647	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1575|.	Q8IZJ3|.	CPMD8_HUMAN|.	Q|C	1622|1632	.|.	ENSP00000291440:E1622Q|.	E|W	-|-	1|3	0|0	CPAMD8|CPAMD8	16873070|16873070	1.000000|1.000000	0.71417|0.71417	0.951000|0.951000	0.38953|0.38953	0.930000|0.930000	0.56654|0.56654	4.830000|4.830000	0.62745|0.62745	1.417000|1.417000	0.47077|0.47077	0.456000|0.456000	0.33151|0.33151	GAG|TGG		0.607	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257531.2		NM_015692		21	25	0	0	0	0.004656	0	21	25		
ZNF737	100129842	broad.mit.edu	37	19	20728292	20728292	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:20728292G>C	ENST00000427401.4	-	4	811	c.717C>G	c.(715-717)agC>agG	p.S239R		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	239					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						ATGAAAACCGGCTAAAGGCTT	0.428																																						uc002npa.2		NaN																	0				ovary(1)	1						c.(715-717)AGC>AGG		zinc finger protein 737							41.0	40.0	40.0					19																	20728292		692	1591	2283	SO:0001583	missense	100129842				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:20728292G>C	BC015765	CCDS54238.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.717C>G	19.37:g.20728292G>C	ENSP00000395733:p.Ser239Arg						p.S239R	NM_001159293	NP_001152765	C9JHM3	C9JHM3_HUMAN			4	897	-			239					C9JHM3	Missense_Mutation	SNP	ENST00000427401.4	37	c.717C>G	CCDS54238.1	.	.	.	.	.	.	.	.	.	.	-	0.341	-0.950642	0.02285	.	.	ENSG00000237440	ENST00000427401	T	0.34667	1.35	0.801	0.801	0.18679	.	.	.	.	.	T	0.17408	0.0418	N	0.13272	0.32	0.09310	N	1	B	0.25390	0.125	B	0.22753	0.041	T	0.20672	-1.0268	9	0.30854	T	0.27	.	3.2387	0.06773	0.3502:0.0:0.6498:0.0	.	239	C9JHM3	.	R	239	ENSP00000395733:S239R	ENSP00000395733:S239R	S	-	3	2	ZNF737	20520132	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-4.725000	0.00193	0.170000	0.19704	0.173000	0.16961	AGC		0.428	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2		NM_145289		5	7	0	0	0	0.000602	0	5	7		
TSHZ3	57616	broad.mit.edu	37	19	31769651	31769651	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:31769651C>T	ENST00000240587.4	-	2	1375	c.1048G>A	c.(1048-1050)Gat>Aat	p.D350N		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	350					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TGAAGTGCATCGTTGGTGTCT	0.567																																						uc002nsy.3		NaN																	0				ovary(4)|skin(2)|pancreas(1)|lung(1)	8						c.(1048-1050)GAT>AAT		zinc finger protein 537							260.0	248.0	252.0					19																	31769651		2203	4300	6503	SO:0001583	missense	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769651C>T	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.1048G>A	19.37:g.31769651C>T	ENSP00000240587:p.Asp350Asn						p.D350N	NM_020856	NP_065907	Q63HK5	TSH3_HUMAN			2	1113	-	Esophageal squamous(110;0.226)		350					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.1048G>A	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	C	11.24	1.581216	0.28180	.	.	ENSG00000121297	ENST00000240587	T	0.11604	2.76	5.31	5.31	0.75309	.	0.100394	0.64402	D	0.000004	T	0.12263	0.0298	N	0.08118	0	0.80722	D	1	D	0.65815	0.995	P	0.54815	0.761	T	0.41484	-0.9506	10	0.23302	T	0.38	-26.7048	18.9894	0.92784	0.0:1.0:0.0:0.0	.	350	Q63HK5	TSH3_HUMAN	N	350	ENSP00000240587:D350N	ENSP00000240587:D350N	D	-	1	0	TSHZ3	36461491	1.000000	0.71417	0.044000	0.18714	0.003000	0.03518	7.016000	0.76393	2.468000	0.83385	0.655000	0.94253	GAT		0.567	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2		NM_020856		36	117	0	0	0	0.009718	0	36	117		
ZFP82	284406	broad.mit.edu	37	19	36883875	36883875	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:36883875C>T	ENST00000392161.3	-	5	1609	c.1367G>A	c.(1366-1368)gGc>gAc	p.G456D	ZFP82_ENST00000392171.1_Missense_Mutation_p.G456D	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	456					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AAAGGCCTTGCCACATTCCTT	0.418																																						uc002ody.1		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(1366-1368)GGC>GAC		zinc finger protein 82 homolog							100.0	96.0	98.0					19																	36883875		2203	4300	6503	SO:0001583	missense	284406				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:36883875C>T	AL834267	CCDS12493.1	19q13.13	2013-01-08	2012-11-27	2008-07-01		ENSG00000181007		"""Zinc fingers, C2H2-type"", ""-"""	28682	protein-coding gene	gene with protein product			"""zinc finger protein 545"", ""zinc finger protein 82 homolog (mouse)"", ""zinc finger protein 82"""	ZNF545		11853319	Standard	NM_133466		Approved	MGC45380, KIAA1948	uc002ody.1	Q8N141		ENST00000392161.3:c.1367G>A	19.37:g.36883875C>T	ENSP00000431265:p.Gly456Asp						p.G456D	NM_133466	NP_597723	Q8N141	ZFP82_HUMAN			5	1602	-			456			C2H2-type 11.		Q8NC63|Q8TF53	Missense_Mutation	SNP	ENST00000392161.3	37	c.1367G>A	CCDS12493.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.208528	0.39003	.	.	ENSG00000181007	ENST00000392161;ENST00000392171	T;T	0.07021	3.23;3.23	4.1	4.1	0.47936	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42548	D	0.000686	T	0.10981	0.0268	L	0.37800	1.135	0.34138	D	0.666011	P	0.42203	0.773	P	0.44860	0.462	T	0.12268	-1.0554	10	0.87932	D	0	.	14.2115	0.65767	0.0:1.0:0.0:0.0	.	456	Q8N141	ZFP82_HUMAN	D	456	ENSP00000431265:G456D;ENSP00000446080:G456D	ENSP00000431265:G456D	G	-	2	0	ZFP82	41575715	0.880000	0.30214	1.000000	0.80357	0.942000	0.58702	2.988000	0.49386	2.294000	0.77228	0.591000	0.81541	GGC		0.418	ZFP82-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109552.2		NM_133466		14	9	0	0	0	0.001855	0	14	9		
AXL	558	broad.mit.edu	37	19	41765721	41765721	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:41765721A>G	ENST00000301178.4	+	20	2787	c.2597A>G	c.(2596-2598)tAt>tGt	p.Y866C	AXL_ENST00000593513.1_Missense_Mutation_p.Y598C|HNRNPUL1_ENST00000352456.3_5'Flank|HNRNPUL1_ENST00000595018.1_5'Flank|AXL_ENST00000359092.3_Missense_Mutation_p.Y857C	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	866					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GCTGGACGCTATGTCCTCTGC	0.652																																						uc010ehj.2		NaN																	0				lung(4)|stomach(3)|ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)	13						c.(2596-2598)TAT>TGT		AXL receptor tyrosine kinase isoform 1							59.0	49.0	52.0					19																	41765721		2203	4300	6503	SO:0001583	missense	558					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr19:41765721A>G	M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.2597A>G	19.37:g.41765721A>G	ENSP00000301178:p.Tyr866Cys					CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_5'Flank|HNRNPUL1_uc002oqa.3_5'Flank|AXL_uc010ehk.2_Missense_Mutation_p.Y857C|HNRNPUL1_uc010ehl.1_5'Flank	p.Y866C	NM_021913	NP_068713	P30530	UFO_HUMAN			20	2787	+			866			Cytoplasmic (Potential).		Q8N5L2|Q9UD27	Missense_Mutation	SNP	ENST00000301178.4	37	c.2597A>G	CCDS12575.1	.	.	.	.	.	.	.	.	.	.	A	19.71	3.879175	0.72294	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.74947	-0.89;-0.84	4.68	4.68	0.58851	.	0.174710	0.38548	N	0.001646	T	0.75910	0.3914	N	0.19112	0.55	0.48395	D	0.999641	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.79200	-0.1901	10	0.87932	D	0	-12.2256	11.74	0.51788	1.0:0.0:0.0:0.0	.	857;866	P30530-2;P30530	.;UFO_HUMAN	C	866;857	ENSP00000301178:Y866C;ENSP00000351995:Y857C	ENSP00000301178:Y866C	Y	+	2	0	AXL	46457561	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.759000	0.68785	1.954000	0.56735	0.482000	0.46254	TAT		0.652	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2				61	59	0	0	0	0.00361	0	61	59		
HNRNPUL1	11100	broad.mit.edu	37	19	41808694	41808694	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:41808694C>T	ENST00000392006.3	+	12	1985	c.1812C>T	c.(1810-1812)ccC>ccT	p.P604P	HNRNPUL1_ENST00000378215.4_Silent_p.P490P|HNRNPUL1_ENST00000593587.1_Silent_p.P504P|HNRNPUL1_ENST00000352456.3_Silent_p.P504P|HNRNPUL1_ENST00000263367.3_Silent_p.P515P|HNRNPUL1_ENST00000595018.1_Silent_p.P504P|HNRNPUL1_ENST00000602130.1_Silent_p.P604P	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	604	Necessary for interaction with TP53.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						CTGGGCCACCCCCTGAAAAGC	0.627																																						uc002oqb.3		NaN																	0				central_nervous_system(1)|skin(1)	2						c.(1810-1812)CCC>CCT		heterogeneous nuclear ribonucleoprotein U-like 1							58.0	54.0	55.0					19																	41808694		2203	4300	6503	SO:0001819	synonymous_variant	11100				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding	g.chr19:41808694C>T	AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"""E1B 55kDa associated protein 5"""	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.1812C>T	19.37:g.41808694C>T						CYP2F1_uc010xvw.1_Intron|HNRNPUL1_uc002opz.3_Silent_p.P504P|HNRNPUL1_uc002oqa.3_Silent_p.P504P|HNRNPUL1_uc010ehm.2_Silent_p.P604P|HNRNPUL1_uc002oqc.3_Silent_p.P490P|HNRNPUL1_uc002oqe.3_Intron|HNRNPUL1_uc002oqd.3_Silent_p.P504P|HNRNPUL1_uc010ehn.2_Silent_p.P504P|HNRNPUL1_uc010eho.2_Silent_p.P504P|HNRNPUL1_uc010xvy.1_Silent_p.P504P|HNRNPUL1_uc010ehp.2_Silent_p.P460P|HNRNPUL1_uc002oqf.3_Silent_p.P128P	p.P604P	NM_007040	NP_008971	Q9BUJ2	HNRL1_HUMAN			12	2101	+			604			Necessary for interaction with TP53.		B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Silent	SNP	ENST00000392006.3	37	c.1812C>T	CCDS12576.1																																																																																				0.627	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463406.1		NM_144732, NM_007040		18	55	0	0	0	0.008871	0	18	55		
ARHGEF1	9138	broad.mit.edu	37	19	42402702	42402702	+	Silent	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:42402702C>G	ENST00000354532.3	+	14	1381	c.1233C>G	c.(1231-1233)ccC>ccG	p.P411P	ARHGEF1_ENST00000337665.4_Silent_p.P426P|ARHGEF1_ENST00000378152.4_Silent_p.P393P|ARHGEF1_ENST00000599846.1_Silent_p.P467P|ARHGEF1_ENST00000347545.4_Silent_p.P378P	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	411					cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		ACAGCCTGCCCAAGAGCCAGG	0.652																																						uc002orx.2		NaN																	0				ovary(3)|large_intestine(1)	4						c.(1231-1233)CCC>CCG		Rho guanine nucleotide exchange factor 1 isoform							38.0	33.0	35.0					19																	42402702		2193	4286	6479	SO:0001819	synonymous_variant	9138				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr19:42402702C>G	U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"""Rho guanine nucleotide exchange factors"""	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.1233C>G	19.37:g.42402702C>G						ARHGEF1_uc002ory.2_Silent_p.P378P|ARHGEF1_uc002orz.2_Silent_p.P249P|ARHGEF1_uc002osa.2_Silent_p.P426P|ARHGEF1_uc002osb.2_Silent_p.P393P|ARHGEF1_uc002osc.2_Silent_p.P165P|ARHGEF1_uc002osd.2_Silent_p.P70P	p.P411P	NM_004706	NP_004697	Q92888	ARHG1_HUMAN		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)	14	1342	+		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)	411					O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Silent	SNP	ENST00000354532.3	37	c.1233C>G	CCDS12591.1																																																																																				0.652	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000463360.1		NM_199002		6	16	0	0	0	0.004482	0	6	16		
ZNF233	353355	broad.mit.edu	37	19	44777421	44777421	+	Missense_Mutation	SNP	T	T	C	rs372750497|rs556675586	byFrequency	TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:44777421T>C	ENST00000391958.2	+	5	735	c.608T>C	c.(607-609)gTa>gCa	p.V203A	ZNF233_ENST00000334152.1_Intron|ZNF233_ENST00000592581.1_3'UTR|ZNF235_ENST00000589799.1_Intron	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	203					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				CAAATTGATGTAAAAAATAAG	0.378																																						uc002oyz.1		NaN																	0				skin(2)	2						c.(607-609)GTA>GCA		zinc finger protein 233							62.0	60.0	60.0					19																	44777421		2203	4300	6503	SO:0001583	missense	353355				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44777421T>C	AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"""Zinc fingers, C2H2-type"", ""-"""	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.608T>C	19.37:g.44777421T>C	ENSP00000375820:p.Val203Ala					ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.2_Intron|ZNF233_uc002oyy.1_Missense_Mutation_p.V18A	p.V203A	NM_181756	NP_861421	A6NK53	ZN233_HUMAN			5	735	+		Prostate(69;0.0435)|all_neural(266;0.226)	203					B2RN78|B2RN79|Q86WL8	Missense_Mutation	SNP	ENST00000391958.2	37	c.608T>C	CCDS33047.1	.	.	.	.	.	.	.	.	.	.	T	13.24	2.179505	0.38511	.	.	ENSG00000159915	ENST00000391958;ENST00000280305	T	0.05447	3.44	3.51	1.21	0.21127	.	.	.	.	.	T	0.04998	0.0134	L	0.38175	1.15	0.09310	N	1	B	0.25667	0.131	B	0.22386	0.039	T	0.43114	-0.9411	9	0.29301	T	0.29	-0.0022	4.9155	0.13844	0.1749:0.0:0.2189:0.6062	.	203	A6NK53	ZN233_HUMAN	A	203;124	ENSP00000375820:V203A	ENSP00000280305:V124A	V	+	2	0	ZNF233	49469261	0.000000	0.05858	0.000000	0.03702	0.916000	0.54674	-0.645000	0.05409	0.067000	0.16545	0.421000	0.28195	GTA		0.378	ZNF233-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000460737.1		NM_181756		7	9	0	0	0	0.00308	0	7	9		
ERCC2	2068	broad.mit.edu	37	19	45867687	45867687	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08			T	C	T	T		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq;WGS			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:45867687T>C	ENST00000391945.4	-	8	790	c.713A>G	c.(712-714)aAc>aGc	p.N238S	ERCC2_ENST00000391944.3_Missense_Mutation_p.N160S|ERCC2_ENST00000221481.6_Intron|ERCC2_ENST00000391940.4_Missense_Mutation_p.N214S|ERCC2_ENST00000485403.2_Missense_Mutation_p.N214S	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementation group 2	238	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				7-methylguanosine mRNA capping (GO:0006370)|aging (GO:0007568)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|central nervous system myelin formation (GO:0032289)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|embryonic cleavage (GO:0040016)|erythrocyte maturation (GO:0043249)|extracellular matrix organization (GO:0030198)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|hair follicle maturation (GO:0048820)|hematopoietic stem cell differentiation (GO:0060218)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of DNA binding (GO:0043388)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|post-embryonic development (GO:0009791)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|MMXD complex (GO:0071817)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)	p.N238S(1)		large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CTCACCAATGTTGTGGGCCTC	0.637			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc002pbj.2		NaN	yes	Rec		Xeroderma pigmentosum (D)	19	19q13.2-q13.3	2068	Mis|N|F|S	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 (xeroderma pigmentosum D)"""			E		skin basal cell|skin squamous cell|melanoma			1	Substitution - Missense(1)		urinary_tract(1)	lung(2)|pancreas(1)	3						c.(712-714)AAC>AGC	Direct_reversal_of_damage|NER	excision repair cross-complementing rodent							36.0	32.0	34.0					19																	45867687		2203	4300	6503	SO:0001583	missense	2068	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	g.chr19:45867687T>C		CCDS33049.1, CCDS46112.1	19q13.3	2014-09-17	2014-03-07		ENSG00000104884	ENSG00000104884	3.6.4.12	"""General transcription factor IIH complex subunits"""	3434	protein-coding gene	gene with protein product	"""excision repair cross-complementing rodent repair deficiency, complementation group 2 protein"", ""TFIIH basal transcription factor complex helicase XPB subunit"""	126340	"""xeroderma pigmentosum complementary group D"", ""excision repair cross-complementing rodent repair deficiency, complementation group 2"""	XPD		8413672, 2184031	Standard	NM_000400		Approved	MAG, EM9, MGC102762, MGC126218, MGC126219, TFIIH	uc002pbj.2	P18074	OTTHUMG00000048190	ENST00000391945.4:c.713A>G	19.37:g.45867687T>C	ENSP00000375809:p.Asn238Ser					ERCC2_uc002pbi.2_5'Flank|ERCC2_uc010ejz.2_Missense_Mutation_p.N160S|ERCC2_uc002pbk.2_Missense_Mutation_p.N214S|ERCC2_uc002pbl.3_Missense_Mutation_p.N214S|ERCC2_uc010xxj.1_Intron	p.N238S	NM_000400	NP_000391	P18074	ERCC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0226)	8	760	-		Ovarian(192;0.0728)|all_neural(266;0.112)	238			Helicase ATP-binding.		Q2TB78|Q2YDY2|Q7KZU6|Q8N721	Missense_Mutation	SNP	ENST00000391945.4	37	c.713A>G	CCDS33049.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.668897	0.88348	.	.	ENSG00000104884	ENST00000391941;ENST00000391942;ENST00000391945;ENST00000391944;ENST00000391940	T;T;T	0.80480	-1.38;-1.38;-1.38	4.72	4.72	0.59763	DEAD2 (1);Helicase-like, DEXD box c2 type (1);DNA/RNA helicase, ATP-dependent, DEAH-box type, conserved site (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.000000	0.85682	D	0.000000	D	0.93058	0.7790	H	0.98199	4.17	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.994	D;D;D	0.91635	0.999;0.979;0.994	D	0.94883	0.8041	10	0.87932	D	0	-50.8517	12.4641	0.55749	0.0:0.0:0.0:1.0	.	160;214;238	E7EVE9;Q7KZU6;P18074	.;.;ERCC2_HUMAN	S	188;214;238;160;214	ENSP00000375809:N238S;ENSP00000375808:N160S;ENSP00000375804:N214S	ENSP00000375804:N214S	N	-	2	0	ERCC2	50559527	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.538000	0.67193	2.102000	0.63906	0.459000	0.35465	AAC		0.637	ERCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109626.2		NM_000400		15	39	0	0	0	0.003163	0	15	39		
DMWD	1762	broad.mit.edu	37	19	46290118	46290118	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:46290118G>T	ENST00000270223.6	-	3	681	c.636C>A	c.(634-636)gaC>gaA	p.D212E	DMWD_ENST00000377735.3_Missense_Mutation_p.D212E|AC011530.4_ENST00000593999.1_5'Flank|DMWD_ENST00000601370.1_5'UTR	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	212										central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		CCTTGGTCTTGTCGATCAACC	0.582																																						uc002pdj.1		NaN																	0					0						c.(634-636)GAC>GAA		dystrophia myotonica-containing WD repeat motif							38.0	30.0	33.0					19																	46290118		2203	4300	6503	SO:0001583	missense	1762				meiosis			g.chr19:46290118G>T	L19267	CCDS33054.1	19q13.32	2013-01-09	2007-02-20		ENSG00000185800	ENSG00000185800		"""WD repeat domain containing"""	2936	protein-coding gene	gene with protein product		609857	"""dystrophia myotonica-containing WD repeat motif"""			1302022	Standard	NM_004943		Approved	DMR-N9, gene59, D19S593E	uc021uwc.1	Q09019	OTTHUMG00000169044	ENST00000270223.6:c.636C>A	19.37:g.46290118G>T	ENSP00000270223:p.Asp212Glu					DMWD_uc002pdk.1_Missense_Mutation_p.D212E|DMWD_uc010eko.1_5'UTR	p.D212E	NM_004943	NP_004934	Q09019	DMWD_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)	3	682	-		Ovarian(192;0.0308)|all_neural(266;0.112)	212			WD 1.			Missense_Mutation	SNP	ENST00000270223.6	37	c.636C>A	CCDS33054.1	.	.	.	.	.	.	.	.	.	.	G	12.86	2.063445	0.36373	.	.	ENSG00000185800	ENST00000377735;ENST00000270223	T;T	0.28666	1.6;1.6	4.21	4.21	0.49690	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.51432	0.1674	M	0.68728	2.09	0.49483	D	0.999791	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.987	T	0.47420	-0.9119	10	0.35671	T	0.21	-45.5322	14.4607	0.67448	0.0:0.0:1.0:0.0	.	212;212	G5E9A7;Q09019	.;DMWD_HUMAN	E	212	ENSP00000366964:D212E;ENSP00000270223:D212E	ENSP00000270223:D212E	D	-	3	2	DMWD	50981958	1.000000	0.71417	1.000000	0.80357	0.738000	0.42128	7.275000	0.78548	2.377000	0.81083	0.514000	0.50259	GAC		0.582	DMWD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402063.1		NM_004943		14	32	1	0	1.5842e-08	0.001855	1.65358e-08	14	32		
STRN4	29888	broad.mit.edu	37	19	47226204	47226204	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:47226204T>C	ENST00000263280.6	-	14	1818	c.1769A>G	c.(1768-1770)cAc>cGc	p.H590R	STRN4_ENST00000539396.1_Missense_Mutation_p.H471R|STRN4_ENST00000391910.3_Missense_Mutation_p.H597R|STRN4_ENST00000594357.2_5'UTR	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	590						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		GGGGACCCCGTGCTCTGAGGG	0.662																																						uc002pfl.2		NaN																	0					0						c.(1768-1770)CAC>CGC		zinedin isoform 1							60.0	57.0	58.0					19																	47226204		2203	4300	6503	SO:0001583	missense	29888					cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding	g.chr19:47226204T>C	AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"""WD repeat domain containing"""	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.1769A>G	19.37:g.47226204T>C	ENSP00000263280:p.His590Arg					STRN4_uc002pfm.2_Missense_Mutation_p.H597R|STRN4_uc010xyf.1_RNA	p.H590R	NM_013403	NP_037535	Q9NRL3	STRN4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)	14	1802	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	590			WD 4.		A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Missense_Mutation	SNP	ENST00000263280.6	37	c.1769A>G	CCDS12690.1	.	.	.	.	.	.	.	.	.	.	T	6.243	0.413025	0.11812	.	.	ENSG00000090372	ENST00000391910;ENST00000263280;ENST00000539396	T;T;T	0.80480	-1.38;-1.38;-1.38	5.39	5.39	0.77823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.112855	0.64402	D	0.000017	T	0.74680	0.3748	L	0.59436	1.845	0.80722	D	1	B;P	0.40731	0.036;0.728	B;B	0.37550	0.03;0.253	T	0.72253	-0.4347	10	0.13853	T	0.58	-20.4068	13.3633	0.60669	0.0:0.0:0.0:1.0	.	597;590	F8VYA6;Q9NRL3	.;STRN4_HUMAN	R	597;590;471	ENSP00000375777:H597R;ENSP00000263280:H590R;ENSP00000440901:H471R	ENSP00000263280:H590R	H	-	2	0	STRN4	51918044	0.865000	0.29922	0.403000	0.26384	0.020000	0.10135	1.934000	0.40163	2.037000	0.60232	0.379000	0.24179	CAC		0.662	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000466607.2				27	67	0	0	0	0.009535	0	27	67		
C5AR2	27202	broad.mit.edu	37	19	47844239	47844239	+	Silent	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:47844239G>T	ENST00000595464.1	+	2	401	c.183G>T	c.(181-183)ggG>ggT	p.G61G	C5AR2_ENST00000600626.1_Silent_p.G61G|C5AR2_ENST00000257267.2_Silent_p.G61G	NM_001271749.1	NP_001258678.1	Q9P296	C5AR2_HUMAN	complement component 5a receptor 2	61					chemotaxis (GO:0006935)|inflammatory response (GO:0006954)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of interleukin-8 secretion (GO:2000482)	apical part of cell (GO:0045177)|basal plasma membrane (GO:0009925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)										GGGTGGCTGGGAAGGTGGCCC	0.687																																						uc010ela.1		NaN																	0				ovary(1)	1						c.(181-183)GGG>GGT		G protein-coupled receptor 77							67.0	69.0	68.0					19																	47844239		2203	4298	6501	SO:0001819	synonymous_variant	27202				chemotaxis	integral to membrane|plasma membrane	C5a anaphylatoxin receptor activity	g.chr19:47844239G>T	AB038237	CCDS12699.1	19q13.33	2013-01-28	2013-01-28	2013-01-28		ENSG00000134830		"""GPCR / Class A : Complement component receptors"""	4527	protein-coding gene	gene with protein product		609949	"""G protein-coupled receptor 77"""	GPR77		11165367	Standard	NM_018485		Approved	C5L2	uc010ela.1	Q9P296		ENST00000595464.1:c.183G>T	19.37:g.47844239G>T						GPR77_uc002pgk.1_Silent_p.G61G	p.G61G	NM_018485	NP_060955	Q9P296	C5ARL_HUMAN		all cancers(93;0.000129)|OV - Ovarian serous cystadenocarcinoma(262;0.000415)|Epithelial(262;0.0109)|GBM - Glioblastoma multiforme(486;0.0138)	2	401	+		all_cancers(25;1.72e-06)|all_lung(116;2.15e-05)|all_epithelial(76;3.44e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.0652)|Ovarian(192;0.086)	61			Helical; Name=1; (Potential).		B2RA09	Silent	SNP	ENST00000595464.1	37	c.183G>T	CCDS12699.1																																																																																				0.687	C5AR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466926.1		NM_018485		76	258	1	0	6.07207e-39	0.00361	6.94645e-39	76	258		
DHX34	9704	broad.mit.edu	37	19	47879304	47879304	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:47879304C>T	ENST00000328771.4	+	11	2780	c.2431C>T	c.(2431-2433)Cag>Tag	p.Q811*		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	811					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CCTGTACCCACAGCTGGCCGT	0.657																																						uc010xyn.1		NaN																	0				ovary(4)|upper_aerodigestive_tract(1)	5						c.(2431-2433)CAG>TAG		DEAH (Asp-Glu-Ala-His) box polypeptide 34							37.0	34.0	35.0					19																	47879304		2182	4240	6422	SO:0001587	stop_gained	9704					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	g.chr19:47879304C>T	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.2431C>T	19.37:g.47879304C>T	ENSP00000331907:p.Gln811*					DHX34_uc010xyo.1_5'Flank	p.Q811*	NM_014681	NP_055496	Q14147	DHX34_HUMAN		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)	11	2772	+		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	811					B4DMY8	Nonsense_Mutation	SNP	ENST00000328771.4	37	c.2431C>T	CCDS12700.1	.	.	.	.	.	.	.	.	.	.	C	42	9.528661	0.99196	.	.	ENSG00000134815	ENST00000328771	.	.	.	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-38.0836	17.4182	0.87506	0.0:1.0:0.0:0.0	.	.	.	.	X	811	.	ENSP00000331907:Q811X	Q	+	1	0	DHX34	52571102	1.000000	0.71417	0.943000	0.38184	0.321000	0.28281	7.225000	0.78051	2.414000	0.81942	0.655000	0.94253	CAG		0.657	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3		NM_014681		31	97	0	0	0	0.006999	0	31	97		
MAMSTR	284358	broad.mit.edu	37	19	49217717	49217717	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:49217717T>A	ENST00000318083.6	-	7	692	c.629A>T	c.(628-630)gAg>gTg	p.E210V	MAMSTR_ENST00000356751.4_Missense_Mutation_p.E107V|MAMSTR_ENST00000419611.1_Missense_Mutation_p.E107V|MAMSTR_ENST00000594582.1_Intron|MAMSTR_ENST00000377367.3_Intron			Q6ZN01	MASTR_HUMAN	MEF2 activating motif and SAP domain containing transcriptional regulator	210	Pro-rich.				positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)			endometrium(1)|ovary(1)	2						CTTcggccgctcgcggggcgg	0.766																																						uc002pkg.2		NaN																	0				ovary(1)	1						c.(628-630)GAG>GTG		MEF2 activating motif and SAP domain containing							2.0	3.0	3.0					19																	49217717		1030	2268	3298	SO:0001583	missense	284358				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chr19:49217717T>A	AK093389	CCDS12730.1, CCDS46137.1, CCDS74415.1	19q13.33	2009-07-09			ENSG00000176909	ENSG00000176909			26689	protein-coding gene	gene with protein product	"""MEF2-activating SAP transcriptional regulator"""	610349				16818234	Standard	NM_182574		Approved	MASTR, FLJ36070	uc002pkg.2	Q6ZN01		ENST00000318083.6:c.629A>T	19.37:g.49217717T>A	ENSP00000324175:p.Glu210Val					MAMSTR_uc002pkf.2_Missense_Mutation_p.E107V	p.E210V	NM_001130915	NP_001124387	Q6ZN01	MASTR_HUMAN			7	691	-			210			Pro-rich.		B7ZKX4|Q3KQU9|Q8N9Y3	Missense_Mutation	SNP	ENST00000318083.6	37	c.629A>T	CCDS46137.1	.	.	.	.	.	.	.	.	.	.	T	33	5.212749	0.95069	.	.	ENSG00000176909	ENST00000318083;ENST00000419611;ENST00000356751	.	.	.	5.15	5.15	0.70609	.	0.225784	0.31472	N	0.007584	T	0.54447	0.1859	L	0.34521	1.04	0.33232	D	0.556039	D	0.89917	1.0	D	0.71414	0.973	T	0.63532	-0.6616	9	0.40728	T	0.16	-20.9081	11.5755	0.50858	0.0:0.0:0.0:1.0	.	210	Q6ZN01	MASTR_HUMAN	V	210;107;107	.	ENSP00000324175:E210V	E	-	2	0	MAMSTR	53909529	0.990000	0.36364	1.000000	0.80357	0.951000	0.60555	2.194000	0.42668	2.301000	0.77427	0.523000	0.50628	GAG		0.766	MAMSTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466179.1		NM_182574		8	4	0	0	0	0.00308	0	8	4		
RASIP1	54922	broad.mit.edu	37	19	49238543	49238543	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:49238543G>A	ENST00000222145.4	-	4	1293	c.1089C>T	c.(1087-1089)ccC>ccT	p.P363P	RASIP1_ENST00000594232.1_5'UTR	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	363					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|negative regulation of autophagy (GO:0010507)|regulation of Rho GTPase activity (GO:0032319)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	Golgi apparatus (GO:0005794)				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		CGAAGTCCCCGGGGTCTGCAG	0.672																																						uc002pki.2		NaN																	0				pancreas(1)	1						c.(1087-1089)CCC>CCT		Ras-interacting protein 1							42.0	44.0	43.0					19																	49238543		2203	4300	6503	SO:0001819	synonymous_variant	54922				signal transduction	Golgi stack|perinuclear region of cytoplasm		g.chr19:49238543G>A	BC028614	CCDS12731.1	19q13.33	2008-02-05				ENSG00000105538			24716	protein-coding gene	gene with protein product		609623				15031288	Standard	NM_017805		Approved	FLJ20401, RAIN	uc002pki.3	Q5U651		ENST00000222145.4:c.1089C>T	19.37:g.49238543G>A							p.P363P	NM_017805	NP_060275	Q5U651	RAIN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)	4	1286	-		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	363					Q6U676	Silent	SNP	ENST00000222145.4	37	c.1089C>T	CCDS12731.1																																																																																				0.672	RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466185.1		NM_017805		19	60	0	0	0	0.010504	0	19	60		
HSD17B14	51171	broad.mit.edu	37	19	49316713	49316713	+	Splice_Site	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:49316713C>T	ENST00000263278.4	-	8	905	c.639G>A	c.(637-639)caG>caA	p.Q213Q	BCAT2_ENST00000402551.1_5'Flank|BCAT2_ENST00000598162.1_5'Flank|BCAT2_ENST00000545387.2_5'Flank|BCAT2_ENST00000597011.1_5'Flank|BCAT2_ENST00000316273.6_5'Flank|HSD17B14_ENST00000599157.1_Splice_Site_p.Q189Q|BCAT2_ENST00000601496.1_5'Flank|BCAT2_ENST00000599246.1_5'Flank	NM_016246.2	NP_057330.2	Q9BPX1	DHB14_HUMAN	hydroxysteroid (17-beta) dehydrogenase 14	213					steroid catabolic process (GO:0006706)	cytosol (GO:0005829)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)			large_intestine(3)|lung(1)|skin(1)	5		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)		CCACTTCTACCTGGGCCAGCA	0.607																																						uc002pkv.1		NaN																	0					0						c.(637-639)CAG>CAA		dehydrogenase/reductase (SDR family) member 10							70.0	49.0	56.0					19																	49316713		2203	4298	6501	SO:0001630	splice_region_variant	51171				steroid catabolic process	centrosome|cytosol	estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NADP+) activity	g.chr19:49316713C>T	AF126781	CCDS12736.1	19q13.33	2011-09-14	2006-11-22	2006-11-22		ENSG00000087076		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	23238	protein-coding gene	gene with protein product	"""retinal short-chain dehydrogenase/reductase 3"", ""short chain dehydrogenase/reductase family 47C, member 1"""	612832	"""dehydrogenase/reductase (SDR family) member 10"""	DHRS10		10800688, 17067289, 19027726	Standard	XM_005258969		Approved	retSDR3, SDR47C1	uc002pkv.1	Q9BPX1		ENST00000263278.4:c.639+1G>A	19.37:g.49316713C>T						BCAT2_uc002pkq.3_5'Flank|BCAT2_uc002pkr.2_5'Flank|BCAT2_uc002pks.2_5'Flank|BCAT2_uc002pkt.2_5'Flank|BCAT2_uc010emh.1_5'Flank|BCAT2_uc010emi.1_5'Flank|BCAT2_uc010emj.1_5'Flank|HSD17B14_uc010emk.1_Intron	p.Q213Q	NM_016246	NP_057330	Q9BPX1	DHB14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)	8	905	-		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	213					Q9UKU3	Silent	SNP	ENST00000263278.4	37	c.639G>A	CCDS12736.1																																																																																				0.607	HSD17B14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466212.1		NM_016246	Silent	6	3	0	0	0	0.004482	0	6	3		
FUZ	80199	broad.mit.edu	37	19	50315535	50315535	+	Silent	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:50315535T>C	ENST00000313777.4	-	3	454	c.291A>G	c.(289-291)agA>agG	p.R97R	FUZ_ENST00000526575.1_Intron|FUZ_ENST00000533418.1_Silent_p.R47R|FUZ_ENST00000445575.2_Silent_p.R97R|FUZ_ENST00000534008.1_5'UTR|FUZ_ENST00000528094.1_Intron|AC006942.4_ENST00000600669.1_RNA	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	97					cilium assembly (GO:0042384)|embryonic body morphogenesis (GO:0010172)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of planar polarity (GO:0001736)|hair follicle development (GO:0001942)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)|negative regulation of neural crest formation (GO:0090301)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|positive regulation of cilium assembly (GO:0045724)|protein transport (GO:0015031)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		TTTGGAGTAGTCTCTCCAGCC	0.507																																						uc002ppq.1		NaN																	0					0						c.(289-291)AGA>AGG		fuzzy homolog							80.0	63.0	69.0					19																	50315535		2203	4300	6503	SO:0001819	synonymous_variant	80199				cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton		g.chr19:50315535T>C	BC016793	CCDS12781.1, CCDS54293.1	19q13.33	2013-03-05	2013-03-05			ENSG00000010361			26219	protein-coding gene	gene with protein product		610622	"""fuzzy homolog (Drosophila)"""			21761479	Standard	NM_001171937		Approved	FLJ22688, Fy	uc002ppq.2	Q9BT04		ENST00000313777.4:c.291A>G	19.37:g.50315535T>C						FUZ_uc002ppr.1_5'UTR|FUZ_uc002pps.1_Intron|FUZ_uc002ppt.1_Intron|FUZ_uc002ppu.1_Intron|FUZ_uc002ppv.1_Silent_p.R47R|FUZ_uc010ybd.1_Silent_p.R97R	p.R97R	NM_025129	NP_079405	Q9BT04	FUZZY_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)	3	396	-		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	97					B2RD86|B5MDH0|Q6PJY0|Q9H613	Silent	SNP	ENST00000313777.4	37	c.291A>G	CCDS12781.1																																																																																				0.507	FUZ-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393986.1		NM_025129		8	16	0	0	0	0.004482	0	8	16		
MYH14	79784	broad.mit.edu	37	19	50735294	50735294	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:50735294C>T	ENST00000596571.1	+	8	1057	c.1057C>T	c.(1057-1059)Cgg>Tgg	p.R353W	MYH14_ENST00000376970.2_Missense_Mutation_p.R353W|MYH14_ENST00000425460.1_Missense_Mutation_p.R361W|MYH14_ENST00000440075.2_Missense_Mutation_p.R361W|MYH14_ENST00000262269.8_Missense_Mutation_p.R361W|MYH14_ENST00000598205.1_Missense_Mutation_p.R361W|MYH14_ENST00000601313.1_Missense_Mutation_p.R361W			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	353	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GGAGTCGCTGCGGGTCCTGGG	0.662																																						uc002prr.1		NaN																	0				central_nervous_system(1)	1						c.(1057-1059)CGG>TGG		myosin, heavy chain 14 isoform 2							33.0	36.0	35.0					19																	50735294		1940	4140	6080	SO:0001583	missense	79784				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr19:50735294C>T	AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.1057C>T	19.37:g.50735294C>T	ENSP00000472819:p.Arg353Trp					MYH14_uc010enu.1_Missense_Mutation_p.R361W|MYH14_uc002prq.1_Missense_Mutation_p.R361W	p.R353W	NM_024729	NP_079005	Q7Z406	MYH14_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)	9	1104	+		all_neural(266;0.0571)|Ovarian(192;0.0728)	353			Myosin head-like.		B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	ENST00000596571.1	37	c.1057C>T	CCDS59411.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.549958	0.65311	.	.	ENSG00000105357	ENST00000301415;ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	T;T;T;T	0.72942	-0.7;-0.7;-0.7;-0.7	4.09	1.81	0.25067	Myosin head, motor domain (2);	.	.	.	.	D	0.82802	0.5116	M	0.86953	2.85	0.40601	D	0.981586	D;D;D	0.71674	0.998;0.996;0.995	P;D;P	0.65684	0.896;0.937;0.896	D	0.83831	0.0252	9	0.87932	D	0	.	10.4221	0.44356	0.3746:0.6254:0.0:0.0	.	361;353;361	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	W	353;361;353;361;353;361	ENSP00000406273:R361W;ENSP00000366169:R353W;ENSP00000407879:R361W;ENSP00000262269:R361W	ENSP00000262269:R361W	R	+	1	2	MYH14	55427106	0.135000	0.22499	0.998000	0.56505	0.908000	0.53690	-0.079000	0.11357	0.424000	0.26061	0.491000	0.48974	CGG		0.662	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464710.2		NM_024729		15	56	0	0	0	0.010504	0	15	56		
ZNF616	90317	broad.mit.edu	37	19	52619312	52619312	+	Missense_Mutation	SNP	C	C	T	rs565338621		TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:52619312C>T	ENST00000600228.1	-	4	1366	c.1105G>A	c.(1105-1107)Gta>Ata	p.V369I	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	369					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		CGGTGACATACAAGATTTGAT	0.418																																						uc002pym.2		NaN																	0					0						c.(1105-1107)GTA>ATA		zinc finger protein 616							206.0	197.0	200.0					19																	52619312		2203	4300	6503	SO:0001583	missense	90317				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52619312C>T	AK092266	CCDS33090.1	19q13.41	2013-01-08				ENSG00000204611		"""Zinc fingers, C2H2-type"", ""-"""	28062	protein-coding gene	gene with protein product							Standard	NM_178523		Approved	MGC45556	uc002pym.3	Q08AN1		ENST00000600228.1:c.1105G>A	19.37:g.52619312C>T	ENSP00000471000:p.Val369Ile					ZNF616_uc002pyn.2_RNA	p.V369I	NM_178523	NP_848618	Q08AN1	ZN616_HUMAN		GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)	4	1388	-			369			C2H2-type 7.		B3KRV1|Q0P658|Q658V7	Missense_Mutation	SNP	ENST00000600228.1	37	c.1105G>A	CCDS33090.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.740120	0.30865	.	.	ENSG00000204611	ENST00000330123	.	.	.	1.08	-2.15	0.07102	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17066	0.0410	N	0.21097	0.63	0.09310	N	1	B	0.14012	0.009	B	0.17098	0.017	T	0.33904	-0.9850	8	0.07325	T	0.83	.	4.4013	0.11388	0.0:0.5774:0.2184:0.2041	.	369	Q08AN1	ZN616_HUMAN	I	369	.	ENSP00000328722:V369I	V	-	1	0	ZNF616	57311124	0.000000	0.05858	0.000000	0.03702	0.785000	0.44390	-3.261000	0.00536	-0.882000	0.03987	0.305000	0.20034	GTA		0.418	ZNF616-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462451.1		XM_030892		47	58	0	0	0	0.00361	0	47	58		
ZNF28	7576	broad.mit.edu	37	19	53311303	53311303	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:53311303G>T	ENST00000457749.2	-	3	218	c.99C>A	c.(97-99)taC>taA	p.Y33*	ZNF28_ENST00000594602.1_Nonsense_Mutation_p.Y33*|ZNF28_ENST00000360272.4_5'UTR|ZNF28_ENST00000414252.2_Intron|ZNF28_ENST00000339844.6_5'UTR|ZNF28_ENST00000464469.2_5'UTR|ZNF28_ENST00000438150.2_5'Flank	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	33	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TCACATCCCTGTAAAGAGTCC	0.483																																						uc002qad.2		NaN																	0				skin(1)	1						c.(97-99)TAC>TAA		zinc finger protein 28																																				SO:0001587	stop_gained	7576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53311303G>T	X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.99C>A	19.37:g.53311303G>T	ENSP00000397693:p.Tyr33*					ZNF28_uc002qac.2_5'UTR|ZNF28_uc010eqe.2_Intron	p.Y33*	NM_006969	NP_008900	P17035	ZNF28_HUMAN		GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)	3	219	-			33			KRAB.		A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	Nonsense_Mutation	SNP	ENST00000457749.2	37	c.99C>A	CCDS33093.2	.	.	.	.	.	.	.	.	.	.	-	12.94	2.088911	0.36855	.	.	ENSG00000198538	ENST00000457749	.	.	.	1.87	0.773	0.18516	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.9913	0.24758	0.1583:0.0:0.8417:0.0	.	.	.	.	X	33	.	ENSP00000397693:Y33X	Y	-	3	2	ZNF28	58003115	0.950000	0.32346	0.014000	0.15608	0.006000	0.05464	1.737000	0.38197	0.123000	0.18342	0.398000	0.26397	TAC		0.483	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336038.2		NM_006969		7	77	1	0	5.18039e-06	0.00308	5.32947e-06	7	77		
ZNF548	147694	broad.mit.edu	37	19	57910511	57910511	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:57910511T>C	ENST00000366197.5	+	3	1106	c.856T>C	c.(856-858)Tgt>Cgt	p.C286R	AC003002.6_ENST00000596400.1_Intron|AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000600421.1_Intron|ZNF548_ENST00000336128.7_Missense_Mutation_p.C298R	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	286					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GTGCAACACATGTGGGAAATT	0.433																																						uc002qom.2		NaN																	0				breast(1)	1						c.(856-858)TGT>CGT		zinc finger protein 548							68.0	69.0	68.0					19																	57910511		2200	4297	6497	SO:0001583	missense	147694				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57910511T>C	AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"""Zinc fingers, C2H2-type"", ""-"""	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.856T>C	19.37:g.57910511T>C	ENSP00000379482:p.Cys286Arg					ZNF547_uc002qpm.3_Intron|ZNF548_uc002qon.2_Missense_Mutation_p.C289R	p.C286R	NM_152909	NP_690873	Q8NEK5	ZN548_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	3	1106	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	286			C2H2-type 4.		Q96M05	Missense_Mutation	SNP	ENST00000366197.5	37	c.856T>C	CCDS46209.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.122460	0.77436	.	.	ENSG00000188785	ENST00000336128;ENST00000366197	D;D	0.85955	-2.05;-2.05	2.44	2.44	0.29823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93933	0.8058	H	0.96916	3.905	0.51767	D	0.999931	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.93783	0.7085	9	0.87932	D	0	.	9.5509	0.39310	0.0:0.0:0.0:1.0	.	298;286	Q8NEK5-2;Q8NEK5	.;ZN548_HUMAN	R	298;286	ENSP00000337555:C298R;ENSP00000379482:C286R	ENSP00000337555:C298R	C	+	1	0	ZNF548	62602323	0.983000	0.35010	0.107000	0.21349	0.684000	0.39900	1.935000	0.40173	1.148000	0.42385	0.533000	0.62120	TGT		0.433	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465937.1		NM_152909		9	20	0	0	0	0.008291	0	9	20		
ZNF749	388567	broad.mit.edu	37	19	57956154	57956154	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:57956154C>G	ENST00000334181.4	+	3	1888	c.1638C>G	c.(1636-1638)caC>caG	p.H546Q	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	546					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TCATTCAACACAAGAGGATTG	0.463																																						uc002qoq.2		NaN																	0					0						c.(1636-1638)CAC>CAG		zinc finger protein 749							93.0	88.0	89.0					19																	57956154		2203	4300	6503	SO:0001583	missense	388567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57956154C>G	AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.1638C>G	19.37:g.57956154C>G	ENSP00000333980:p.His546Gln					ZNF547_uc002qpm.3_Intron	p.H546Q	NM_001023561	NP_001018855	O43361	ZN749_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)	3	1892	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	546						Missense_Mutation	SNP	ENST00000334181.4	37	c.1638C>G	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	C	9.083	0.999887	0.19121	.	.	ENSG00000186230	ENST00000334181	T	0.28454	1.61	0.794	-0.456	0.12190	.	.	.	.	.	T	0.47229	0.1434	H	0.95294	3.65	0.09310	N	1	D	0.59357	0.985	P	0.48815	0.591	T	0.44697	-0.9311	9	0.72032	D	0.01	.	3.2457	0.06796	0.0:0.6655:0.0:0.3345	.	546	O43361	ZN749_HUMAN	Q	546	ENSP00000333980:H546Q	ENSP00000333980:H546Q	H	+	3	2	ZNF749	62647966	0.748000	0.28294	0.000000	0.03702	0.022000	0.10575	0.501000	0.22578	-0.086000	0.12550	0.134000	0.15878	CAC		0.463	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1		NM_001023561		8	22	0	0	0	0.008291	0	8	22		
ZNF329	79673	broad.mit.edu	37	19	58639356	58639356	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:58639356A>T	ENST00000598312.1	-	4	1748	c.1515T>A	c.(1513-1515)caT>caA	p.H505Q	ZNF329_ENST00000358067.4_Missense_Mutation_p.H505Q	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	505					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		CCTCCCTGCTATGGAGTCTCT	0.512																																						uc002qrn.2		NaN																	0				skin(1)	1						c.(1513-1515)CAT>CAA		zinc finger protein 329							138.0	133.0	135.0					19																	58639356		2203	4300	6503	SO:0001583	missense	79673				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58639356A>T	AK022648	CCDS12972.1	19q13.43	2013-01-08				ENSG00000181894		"""Zinc fingers, C2H2-type"""	14209	protein-coding gene	gene with protein product							Standard	XM_006723381		Approved	FLJ12586	uc002qrn.3	Q86UD4		ENST00000598312.1:c.1515T>A	19.37:g.58639356A>T	ENSP00000470008:p.His505Gln					ZNF329_uc010euk.1_RNA|ZNF329_uc002qro.1_RNA|ZNF329_uc002qrp.1_RNA	p.H505Q	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)	4	1752	-		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)	505			C2H2-type 11.		B3KR32|Q9H9R7	Missense_Mutation	SNP	ENST00000598312.1	37	c.1515T>A	CCDS12972.1	.	.	.	.	.	.	.	.	.	.	A	11.71	1.719782	0.30503	.	.	ENSG00000181894	ENST00000358067;ENST00000500161	T;T	0.41400	1.0;1.0	4.22	0.868	0.19090	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.43260	D	0.000594	T	0.67988	0.2952	H	0.94183	3.505	0.37881	D	0.930398	D	0.76494	0.999	D	0.77557	0.99	T	0.71331	-0.4625	10	0.87932	D	0	-11.2403	7.9236	0.29861	0.5319:0.0:0.4681:0.0	.	505	Q86UD4	ZN329_HUMAN	Q	505	ENSP00000350773:H505Q;ENSP00000439527:H505Q	ENSP00000350773:H505Q	H	-	3	2	ZNF329	63331168	0.567000	0.26626	0.964000	0.40570	0.868000	0.49771	0.284000	0.18864	0.106000	0.17784	-0.256000	0.11100	CAT		0.512	ZNF329-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466724.1		NM_024620		64	83	0	0	0	0.00361	0	64	83		
ACP1	52	broad.mit.edu	37	2	275176	275176	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:275176C>T	ENST00000272065.5	+	4	361	c.268C>T	c.(268-270)Cta>Tta	p.L90L	ACP1_ENST00000484464.1_3'UTR|ACP1_ENST00000272067.6_Silent_p.L90L	NM_004300.3	NP_004291.1	P24666	PPAC_HUMAN	acid phosphatase 1, soluble	90						cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|extracellular vesicular exosome (GO:0070062)	acid phosphatase activity (GO:0003993)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)	Adenine(DB00173)	TGATTATATACTATGTATGGA	0.343																																						uc002qwg.2		NaN																	0				skin(1)	1						c.(268-270)CTA>TTA		acid phosphatase 1, soluble isoform b							106.0	108.0	107.0					2																	275176		2203	4298	6501	SO:0001819	synonymous_variant	52					cytoplasm|internal side of plasma membrane|nucleus|soluble fraction	acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity	g.chr2:275176C>T	M87546	CCDS1639.1, CCDS1640.1, CCDS46217.1	2p25	2011-06-09			ENSG00000143727	ENSG00000143727	3.1.3.2	"""Protein tyrosine phosphatases / Class II Cys-based PTPs"""	122	protein-coding gene	gene with protein product		171500					Standard	NM_001040649		Approved		uc002qwf.3	P24666	OTTHUMG00000086933	ENST00000272065.5:c.268C>T	2.37:g.275176C>T						ACP1_uc002qwh.2_RNA|ACP1_uc002qwf.2_Silent_p.L90L	p.L90L	NM_007099	NP_009030	P24666	PPAC_HUMAN		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)	4	364	+	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)	90					A8K1L9|B5MCC7|P24667|Q16035|Q16036|Q16725|Q3KQX8|Q53RU0	Silent	SNP	ENST00000272065.5	37	c.268C>T	CCDS1639.1																																																																																				0.343	ACP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195862.3				4	19	0	0	0	0.009096	0	4	19		
RPS7	6201	broad.mit.edu	37	2	3623453	3623453	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:3623453G>A	ENST00000304921.5	+	3	286	c.122G>A	c.(121-123)aGg>aAg	p.R41K	RPS7_ENST00000403564.1_Missense_Mutation_p.R41K|RPS7_ENST00000407445.3_Missense_Mutation_p.R41K|RPS7_ENST00000406376.1_Missense_Mutation_p.R41K	NM_001011.3	NP_001002.1	P62081	RS7_HUMAN	ribosomal protein S7	41					cellular protein metabolic process (GO:0044267)|cytoplasmic translation (GO:0002181)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|lung(2)|urinary_tract(1)	4	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0963)|Epithelial(75;0.208)		GCTCAGCTCAGGGAGCTGAAT	0.637																																						uc002qxw.2		NaN																	0					0						c.(121-123)AGG>AAG		ribosomal protein S7							30.0	30.0	30.0					2																	3623453		2202	4300	6502	SO:0001583	missense	6201				endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleolus|small-subunit processome	protein binding|RNA binding|structural constituent of ribosome	g.chr2:3623453G>A		CCDS1648.1	2p25	2011-04-05			ENSG00000171863	ENSG00000171863		"""S ribosomal proteins"""	10440	protein-coding gene	gene with protein product		603658				8522193, 10625621	Standard	NM_001011		Approved	S7	uc002qxw.3	P62081	OTTHUMG00000090305	ENST00000304921.5:c.122G>A	2.37:g.3623453G>A	ENSP00000339095:p.Arg41Lys					RPS7_uc002qxx.2_Missense_Mutation_p.R41K|RPS7_uc002qxy.2_5'Flank	p.R41K	NM_001011	NP_001002	P62081	RS7_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.0963)|Epithelial(75;0.208)	3	228	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)		41					P23821|P24818|Q57Z92|Q6IPH1	Missense_Mutation	SNP	ENST00000304921.5	37	c.122G>A	CCDS1648.1	.	.	.	.	.	.	.	.	.	.	G	16.72	3.200106	0.58126	.	.	ENSG00000171863	ENST00000304921;ENST00000407445;ENST00000403564;ENST00000406376	.	.	.	4.13	4.13	0.48395	.	0.104719	0.64402	N	0.000008	T	0.56992	0.2023	L	0.55834	1.745	0.58432	D	0.999995	B;B	0.06786	0.001;0.0	B;B	0.15052	0.011;0.012	T	0.54708	-0.8253	9	0.23891	T	0.37	-8.8665	15.7335	0.77825	0.0:0.0:1.0:0.0	.	41;41	B5MCP9;P62081	.;RS7_HUMAN	K	41	.	ENSP00000339095:R41K	R	+	2	0	RPS7	3601328	1.000000	0.71417	0.978000	0.43139	0.655000	0.38815	9.297000	0.96120	1.995000	0.58328	0.467000	0.42956	AGG		0.637	RPS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206667.1		NM_001011		7	17	0	0	0	0.006214	0	7	17		
GREB1	9687	broad.mit.edu	37	2	11758611	11758611	+	Missense_Mutation	SNP	C	C	T	rs71446422		TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:11758611C>T	ENST00000381486.2	+	22	3910	c.3610C>T	c.(3610-3612)Ctc>Ttc	p.L1204F	GREB1_ENST00000234142.5_Missense_Mutation_p.L1204F|GREB1_ENST00000396123.1_Missense_Mutation_p.L202F	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1204	Ser-rich.					integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CGACTGTAGCCTCAGGACCGG	0.701																																					Ovarian(39;850 945 2785 23371 33093)	uc002rbk.1		NaN																	0				ovary(1)	1						c.(3610-3612)CTC>TTC		growth regulation by estrogen in breast cancer 1							10.0	12.0	11.0					2																	11758611		2112	4189	6301	SO:0001583	missense	9687					integral to membrane		g.chr2:11758611C>T		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.3610C>T	2.37:g.11758611C>T	ENSP00000370896:p.Leu1204Phe					GREB1_uc002rbp.1_Missense_Mutation_p.L202F	p.L1204F	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	22	3910	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1204			Ser-rich.		A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Missense_Mutation	SNP	ENST00000381486.2	37	c.3610C>T	CCDS42655.1	.	.	.	.	.	.	.	.	.	.	C	8.736	0.917859	0.17982	.	.	ENSG00000196208	ENST00000381486;ENST00000234142;ENST00000396123	T;T;T	0.23552	3.22;3.22;1.9	4.93	4.93	0.64822	.	2.805570	0.01427	N	0.014596	T	0.26268	0.0641	L	0.29908	0.895	0.09310	N	1	P	0.37636	0.603	B	0.33042	0.157	T	0.46843	-0.9162	10	0.46703	T	0.11	-66.3394	15.6172	0.76775	0.0:1.0:0.0:0.0	.	1204	Q4ZG55	GREB1_HUMAN	F	1204;1204;202	ENSP00000370896:L1204F;ENSP00000234142:L1204F;ENSP00000379429:L202F	ENSP00000234142:L1204F	L	+	1	0	GREB1	11676062	0.001000	0.12720	0.039000	0.18376	0.002000	0.02628	1.191000	0.32138	2.296000	0.77279	0.643000	0.83706	CTC		0.701	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1		NM_014668		20	19	0	0	0	0.001882	0	20	19		
FAM84A	151354	broad.mit.edu	37	2	14774804	14774804	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:14774804C>T	ENST00000295092.2	+	2	989	c.701C>T	c.(700-702)gCa>gTa	p.A234V	FAM84A_ENST00000331243.4_Missense_Mutation_p.A234V|AC011897.1_ENST00000581929.1_5'Flank	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A	234										endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			GAGGTGCCGGCAGGCACGCAG	0.642																																						uc002rbz.1		NaN																	0				pancreas(1)	1						c.(700-702)GCA>GTA		family with sequence similarity 84, member A							20.0	22.0	21.0					2																	14774804		2192	4288	6480	SO:0001583	missense	151354							g.chr2:14774804C>T	AJ417080, BC026346	CCDS1684.1	2p24.3	2005-08-09			ENSG00000162981	ENSG00000162981			20743	protein-coding gene	gene with protein product	"""neurological/sensory 1"""	611234				14702039	Standard	NM_145175		Approved	NSE1, FLJ35392	uc002rbz.2	Q96KN4	OTTHUMG00000119093	ENST00000295092.2:c.701C>T	2.37:g.14774804C>T	ENSP00000295092:p.Ala234Val					FAM84A_uc002rca.1_5'Flank	p.A234V	NM_145175	NP_660158	Q96KN4	FA84A_HUMAN	GBM - Glioblastoma multiforme(1;0.00969)		2	943	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		234					A6NP76|Q86UZ2|Q8NAH7|Q8TAM5	Missense_Mutation	SNP	ENST00000295092.2	37	c.701C>T	CCDS1684.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.53|10.53	1.377409|1.377409	0.24944|0.24944	.|.	.|.	ENSG00000162981|ENSG00000162981	ENST00000295092;ENST00000331243;ENST00000540701|ENST00000359969	T;T|.	0.03301|.	3.98;3.98|.	4.45|4.45	4.45|4.45	0.53987|0.53987	.|.	.|3.500640	.|0.01167	.|N	.|0.006778	T|.	0.67664|.	0.2917|.	L|L	0.40543|0.40543	1.245|1.245	0.38644|0.38644	D|D	0.951674|0.951674	B|.	0.30068|.	0.267|.	B|.	0.19666|.	0.026|.	T|.	0.54543|.	-0.8278|.	9|.	0.18276|0.66056	T|D	0.48|0.02	-0.3685|-0.3685	16.6029|16.6029	0.84820|0.84820	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	234|.	Q96KN4|.	FA84A_HUMAN|.	V|X	234;234;140|179	ENSP00000295092:A234V;ENSP00000330681:A234V|.	ENSP00000295092:A234V|ENSP00000353054:Q179X	A|Q	+|+	2|1	0|0	FAM84A|FAM84A	14692255|14692255	0.001000|0.001000	0.12720|0.12720	0.989000|0.989000	0.46669|0.46669	0.127000|0.127000	0.20565|0.20565	-0.022000|-0.022000	0.12480|0.12480	2.463000|2.463000	0.83235|0.83235	0.455000|0.455000	0.32223|0.32223	GCA|CAG		0.642	FAM84A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239308.2		NM_145175		11	5	0	0	0	0.001855	0	11	5		
FBXO11	80204	broad.mit.edu	37	2	48061799	48061799	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:48061799C>T	ENST00000403359.3	-	7	925	c.853G>A	c.(853-855)Gat>Aat	p.D285N	FBXO11_ENST00000434523.2_5'Flank|FBXO11_ENST00000480038.1_5'Flank|FBXO11_ENST00000316377.4_Missense_Mutation_p.D201N|FBXO11_ENST00000402508.1_Missense_Mutation_p.D201N	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	285					cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ATAAGTCCATCAAAATGAGCC	0.328			"""Mis, F, D"""		DLBCL																																	uc010fbl.2		NaN		Rec	yes		2	2p16.3	80204		F-box protein 11			L					2	Whole gene deletion(2)		haematopoietic_and_lymphoid_tissue(2)	ovary(1)|lung(1)	2						c.(601-603)GAT>AAT		F-box only protein 11 isoform 1							59.0	60.0	60.0					2																	48061799		2203	4294	6497	SO:0001583	missense	80204				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:48061799C>T	AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"""Ubiquitin protein ligase E3 component n-recognins"", ""F-boxes /  ""other"""""	13590	protein-coding gene	gene with protein product	"""ubiquitin protein ligase E3 component n-recognin 6"""	607871	"""F-box only protein 11"""			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.853G>A	2.37:g.48061799C>T	ENSP00000384823:p.Asp285Asn					FBXO11_uc002rwe.2_Missense_Mutation_p.D201N|FBXO11_uc002rwf.2_Missense_Mutation_p.D201N|FBXO11_uc002rwg.1_Missense_Mutation_p.D201N|FBXO11_uc010fbk.2_5'Flank	p.D201N	NM_025133	NP_079409	Q86XK2	FBX11_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		7	715	-		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	285					A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Missense_Mutation	SNP	ENST00000403359.3	37	c.601G>A	CCDS54357.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.143023	0.57044	.	.	ENSG00000138081	ENST00000402508;ENST00000403359;ENST00000316377	T;T;T	0.79749	-1.3;1.03;-1.3	5.58	5.58	0.84498	Pectin lyase fold/virulence factor (1);F-box domain, Skp2-like (1);	0.000000	0.85682	D	0.000000	T	0.57607	0.2065	N	0.02011	-0.69	0.80722	D	1	B	0.27997	0.197	B	0.17098	0.017	T	0.60855	-0.7180	10	0.10111	T	0.7	-13.516	19.5811	0.95468	0.0:1.0:0.0:0.0	.	285	Q86XK2	FBX11_HUMAN	N	201;285;201	ENSP00000385398:D201N;ENSP00000384823:D285N;ENSP00000323822:D201N	ENSP00000323822:D201N	D	-	1	0	FBXO11	47915303	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.616000	0.88540	0.460000	0.39030	GAT		0.328	FBXO11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251181.3		NM_012167, NM_018693, NM_025133		7	14	0	0	0	0.008291	0	7	14		
STON1	11037	broad.mit.edu	37	2	48809237	48809237	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:48809237A>G	ENST00000406226.1	+	3	1660	c.1465A>G	c.(1465-1467)Aag>Gag	p.K489E	STON1_ENST00000404752.1_Missense_Mutation_p.K489E|STON1_ENST00000309835.3_Missense_Mutation_p.K489E|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.K489E|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.K489E|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.K489E|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.K489E|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.K489E	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	489	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)				NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCATTTTCATAAGTGTGTGAA	0.378																																						uc010yol.1		NaN																	0				ovary(3)|pancreas(1)|skin(1)	5						c.(1465-1467)AAG>GAG		stonin 1							119.0	119.0	119.0					2																	48809237		2203	4300	6503	SO:0001583	missense	286749				endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		g.chr2:48809237A>G	AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"""stoned B homolog 1 (Drosophila)"""	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.1465A>G	2.37:g.48809237A>G	ENSP00000384615:p.Lys489Glu					STON1_uc002rwo.3_Missense_Mutation_p.K489E|STON1_uc010fbm.2_Missense_Mutation_p.K489E|STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.K489E|STON1_uc002rwr.2_RNA|STON1_uc002rwq.2_Missense_Mutation_p.K489E	p.K489E	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		1	1512	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	489					A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Missense_Mutation	SNP	ENST00000406226.1	37	c.1465A>G	CCDS1841.1	.	.	.	.	.	.	.	.	.	.	A	11.39	1.623603	0.28889	.	.	ENSG00000243244;ENSG00000243244;ENSG00000243244;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781	ENST00000404752;ENST00000406226;ENST00000309835;ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751	T;T;T;T;T;T;T;T	0.18502	2.21;2.21;2.21;2.21;2.21;2.21;2.21;2.21	5.3	4.11	0.48088	Clathrin adaptor, mu subunit, C-terminal (3);	0.416196	0.29444	N	0.012125	T	0.13500	0.0327	L	0.34521	1.04	0.22342	N	0.999185	B;B;B	0.29378	0.015;0.036;0.243	B;B;B	0.30716	0.018;0.025;0.119	T	0.19647	-1.0299	10	0.23891	T	0.37	.	11.6895	0.51508	0.7199:0.2801:0.0:0.0	.	489;489;489	A8MXJ1;Q53S48;Q9Y6Q2	.;.;STON1_HUMAN	E	489	ENSP00000385273:K489E;ENSP00000384615:K489E;ENSP00000310969:K489E;ENSP00000385499:K489E;ENSP00000385701:K489E;ENSP00000378236:K489E;ENSP00000311493:K489E;ENSP00000378234:K489E	ENSP00000310969:K489E	K	+	1	0	STON1-GTF2A1L;STON1	48662741	0.842000	0.29525	0.998000	0.56505	0.965000	0.64279	0.961000	0.29267	0.992000	0.38840	0.533000	0.62120	AAG		0.378	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323848.2		NM_006873		17	14	0	0	0	0.004007	0	17	14		
GPR75	10936	broad.mit.edu	37	2	54080390	54080390	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:54080390G>T	ENST00000394705.2	-	2	1774	c.1504C>A	c.(1504-1506)Cca>Aca	p.P502T	ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	502					chemokine-mediated signaling pathway (GO:0070098)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of neuron death (GO:1901214)	integral component of plasma membrane (GO:0005887)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GAGTTTACTGGCTGTAAGTTA	0.458																																						uc002rxo.3		NaN																	0				ovary(1)|skin(1)	2						c.(1504-1506)CCA>ACA		G protein-coupled receptor 75							194.0	195.0	195.0					2																	54080390		2203	4300	6503	SO:0001583	missense	10936					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:54080390G>T	AF101472	CCDS1849.1	2p16	2012-08-21			ENSG00000119737	ENSG00000119737		"""GPCR / Class A : Orphans"""	4526	protein-coding gene	gene with protein product		606704				10381362	Standard	NM_006794		Approved	WI-31133	uc002rxo.3	O95800	OTTHUMG00000129280	ENST00000394705.2:c.1504C>A	2.37:g.54080390G>T	ENSP00000378195:p.Pro502Thr					ASB3_uc002rxi.3_Intron	p.P502T	NM_006794	NP_006785	O95800	GPR75_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		2	1775	-			502			Cytoplasmic (Potential).		B2RC02|Q6NWR2	Missense_Mutation	SNP	ENST00000394705.2	37	c.1504C>A	CCDS1849.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.062557	0.55432	.	.	ENSG00000119737	ENST00000394705	T	0.50813	0.73	4.74	4.74	0.60224	.	0.056967	0.64402	D	0.000001	T	0.70613	0.3244	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.75042	-0.3457	9	0.87932	D	0	-5.7264	18.2692	0.90063	0.0:0.0:1.0:0.0	.	502	O95800	GPR75_HUMAN	T	502	ENSP00000378195:P502T	ENSP00000378195:P502T	P	-	1	0	GPR75	53933894	1.000000	0.71417	0.989000	0.46669	0.429000	0.31625	7.236000	0.78154	2.617000	0.88574	0.561000	0.74099	CCA		0.458	GPR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251403.2				29	93	1	0	2.61193e-14	0.009535	2.84396e-14	29	93		
SLC1A4	6509	broad.mit.edu	37	2	65248205	65248205	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:65248205C>T	ENST00000234256.3	+	8	1767	c.1524C>T	c.(1522-1524)ccC>ccT	p.P508P	SLC1A4_ENST00000531327.1_Silent_p.P210P	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	508					amino acid transport (GO:0006865)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|cognition (GO:0050890)|glutamine transport (GO:0006868)|hydroxyproline transport (GO:0034589)|ion transport (GO:0006811)|L-alanine transport (GO:0015808)|L-cystine transport (GO:0015811)|L-serine transport (GO:0015825)|proline transmembrane transport (GO:0035524)|proline transport (GO:0015824)|synaptic transmission, glutamatergic (GO:0035249)|threonine transport (GO:0015826)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|centrosome (GO:0005813)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament (GO:0005882)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)|L-alanine transmembrane transporter activity (GO:0015180)|L-cystine transmembrane transporter activity (GO:0015184)|L-glutamine transmembrane transporter activity (GO:0015186)|L-hydroxyproline transmembrane transporter activity (GO:0034590)|L-proline transmembrane transporter activity (GO:0015193)|L-serine transmembrane transporter activity (GO:0015194)|L-threonine transmembrane transporter activity (GO:0015195)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	AGACATCGCCCCTGGTGACAC	0.587																																						uc010yqa.1		NaN																	0				pancreas(1)	1						c.(1522-1524)CCC>CCT		solute carrier family 1, member 4 isoform 1	L-Alanine(DB00160)						95.0	89.0	91.0					2																	65248205		2203	4300	6503	SO:0001819	synonymous_variant	6509				cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr2:65248205C>T		CCDS1879.1, CCDS54362.1	2p15-p13	2013-05-22			ENSG00000115902	ENSG00000115902		"""Solute carriers"""	10942	protein-coding gene	gene with protein product	"""alanine/serine/cysteine/threonine transporter"""	600229				7896285, 8910405	Standard	NM_003038		Approved	SATT, ASCT1	uc010yqa.2	P43007	OTTHUMG00000129537	ENST00000234256.3:c.1524C>T	2.37:g.65248205C>T						SLC1A4_uc010ypy.1_Silent_p.P288P|SLC1A4_uc010ypz.1_Silent_p.P210P|SLC1A4_uc010fcv.2_3'UTR|SLC1A4_uc002sdh.2_Silent_p.P288P	p.P508P	NM_003038	NP_003029	P43007	SATT_HUMAN			8	1846	+			508					B7Z3C0|D6W5F0	Silent	SNP	ENST00000234256.3	37	c.1524C>T	CCDS1879.1																																																																																				0.587	SLC1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251726.2		NM_003038		21	105	0	0	0	0.00333	0	21	105		
LOXL3	84695	broad.mit.edu	37	2	74762468	74762468	+	Silent	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:74762468G>C	ENST00000264094.3	-	9	1601	c.1530C>G	c.(1528-1530)acC>acG	p.T510T	LOXL3_ENST00000409549.1_Silent_p.T454T|LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000409986.1_Silent_p.T365T|LOXL3_ENST00000393937.2_Silent_p.T365T	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	510	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				epithelial to mesenchymal transition (GO:0001837)|negative regulation of transcription, DNA-templated (GO:0045892)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						TCCTCTTGCAGGTGATGTGGG	0.582																																						uc002smp.1		NaN																	0					0						c.(1528-1530)ACC>ACG		lysyl oxidase-like 3 precursor							92.0	76.0	82.0					2																	74762468		2203	4300	6503	SO:0001819	synonymous_variant	84695					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity	g.chr2:74762468G>C	AF282619	CCDS1953.1, CCDS74527.1	2p13	2008-05-23			ENSG00000115318	ENSG00000115318			13869	protein-coding gene	gene with protein product		607163				11386757	Standard	NM_032603		Approved		uc002smp.1	P58215	OTTHUMG00000129953	ENST00000264094.3:c.1530C>G	2.37:g.74762468G>C						LOXL3_uc002smo.1_Silent_p.T149T|LOXL3_uc010ffm.1_Silent_p.T454T|LOXL3_uc002smq.1_Silent_p.T365T|LOXL3_uc010ffn.1_Silent_p.T365T	p.T510T	NM_032603	NP_115992	P58215	LOXL3_HUMAN			9	1602	-			510			SRCR 4.		D6W5J1|Q2EHP2|Q6IPL7|Q96RS1	Silent	SNP	ENST00000264094.3	37	c.1530C>G	CCDS1953.1																																																																																				0.582	LOXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252215.1		NM_032603		38	38	0	0	0	0.00874	0	38	38		
RNF181	51255	broad.mit.edu	37	2	85823723	85823723	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:85823723G>T	ENST00000306368.4	+	2	198	c.168G>T	c.(166-168)aaG>aaT	p.K56N	RNF181_ENST00000441634.1_Missense_Mutation_p.K56N	NM_016494.3	NP_057578.1	Q9P0P0	RN181_HUMAN	ring finger protein 181	56					protein autoubiquitination (GO:0051865)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			lung(1)|stomach(1)	2						CAGCTGCCAAGACTGTGGTTG	0.537																																						uc002spv.1		NaN																	0					0						c.(166-168)AAG>AAT		ring finger protein 181							61.0	63.0	63.0					2																	85823723		2203	4300	6503	SO:0001583	missense	51255						ligase activity|zinc ion binding	g.chr2:85823723G>T	AF151072	CCDS1981.1	2p11.2	2013-01-09			ENSG00000168894	ENSG00000168894		"""RING-type (C3HC4) zinc fingers"""	28037	protein-coding gene	gene with protein product		612490				11042152	Standard	XM_005264359		Approved	HSPC238	uc002spv.1	Q9P0P0	OTTHUMG00000130182	ENST00000306368.4:c.168G>T	2.37:g.85823723G>T	ENSP00000306906:p.Lys56Asn						p.K56N	NM_016494	NP_057578	Q9P0P0	RN181_HUMAN			2	218	+			56					Q53H81	Missense_Mutation	SNP	ENST00000306368.4	37	c.168G>T	CCDS1981.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.16|14.16	2.451490|2.451490	0.43531|0.43531	.|.	.|.	ENSG00000168894|ENSG00000168894	ENST00000456023|ENST00000441634;ENST00000306368;ENST00000414390	.|D;D	.|0.91068	.|-2.76;-2.78	5.75|5.75	3.96|3.96	0.45880|0.45880	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.93680|0.93680	0.7981|0.7981	M|M	0.82323|0.82323	2.585|2.585	0.51233|0.51233	D|D	0.999911|0.999911	.|D	.|0.69078	.|0.997	.|P	.|0.60789	.|0.879	D|D	0.92699|0.92699	0.6173|0.6173	5|10	.|0.72032	.|D	.|0.01	.|.	7.909|7.909	0.29778|0.29778	0.2489:0.0:0.7511:0.0|0.2489:0.0:0.7511:0.0	.|.	.|56	.|Q9P0P0	.|RN181_HUMAN	Y|N	39|56	.|ENSP00000412025:K56N;ENSP00000306906:K56N	.|ENSP00000306906:K56N	D|K	+|+	1|3	0|2	RNF181|RNF181	85677234|85677234	0.997000|0.997000	0.39634|0.39634	0.906000|0.906000	0.35671|0.35671	0.022000|0.022000	0.10575|0.10575	2.130000|2.130000	0.42064|0.42064	0.780000|0.780000	0.33566|0.33566	0.655000|0.655000	0.94253|0.94253	GAC|AAG		0.537	RNF181-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252500.1		NM_016494		20	28	1	0	2.98393e-07	0.00278	3.09953e-07	20	28		
AFF3	3899	broad.mit.edu	37	2	100343579	100343579	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:100343579C>T	ENST00000409236.2	-	9	1163	c.1051G>A	c.(1051-1053)Gca>Aca	p.A351T	AFF3_ENST00000356421.2_Missense_Mutation_p.A376T|AFF3_ENST00000409579.1_Missense_Mutation_p.A376T|AFF3_ENST00000317233.4_Missense_Mutation_p.A351T			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	351					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TCTGGCTCTGCATCACCTTTC	0.353																																						uc002tag.2		NaN																	0				ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						c.(1051-1053)GCA>ACA		AF4/FMR2 family, member 3 isoform 1							79.0	79.0	79.0					2																	100343579		2203	4300	6503	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100343579C>T	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1051G>A	2.37:g.100343579C>T	ENSP00000387207:p.Ala351Thr					AFF3_uc002taf.2_Missense_Mutation_p.A376T|AFF3_uc010fiq.1_Missense_Mutation_p.A351T|AFF3_uc010yvr.1_Missense_Mutation_p.A505T|AFF3_uc002tah.1_Missense_Mutation_p.A376T|AFF3_uc010fir.1_Missense_Mutation_p.A428T	p.A351T	NM_002285	NP_002276	P51826	AFF3_HUMAN			10	1287	-			351					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.1051G>A	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	C	13.92	2.379836	0.42207	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.62788	0.0;0.0;0.0;0.0	5.26	4.37	0.52481	.	0.091536	0.41712	D	0.000831	T	0.35098	0.0920	N	0.04508	-0.205	0.34367	D	0.691649	P;B;B;B	0.39094	0.659;0.433;0.043;0.093	B;B;B;B	0.34873	0.191;0.068;0.026;0.027	T	0.49854	-0.8895	10	0.23891	T	0.37	.	11.5717	0.50836	0.0:0.9177:0.0:0.0823	.	505;505;351;376	B7Z4I6;C9JXV5;P51826;P51826-2	.;.;AFF3_HUMAN;.	T	351;376;376;351;351;505;376	ENSP00000317421:A351T;ENSP00000348793:A376T;ENSP00000386834:A376T;ENSP00000387207:A351T	ENSP00000317421:A351T	A	-	1	0	AFF3	99710011	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.147000	0.50639	2.455000	0.83008	0.655000	0.94253	GCA		0.353	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3		NM_002285		10	11	0	0	0	0.000978	0	10	11		
IL18RAP	8807	broad.mit.edu	37	2	103068609	103068609	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:103068609A>G	ENST00000264260.2	+	12	2357	c.1768A>G	c.(1768-1770)Act>Gct	p.T590A	IL18RAP_ENST00000409369.1_Missense_Mutation_p.T448A	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	590					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						AACAGAAACCACTGGGAGGAG	0.512																																						uc002tbx.2		NaN																	0				skin(3)|ovary(2)	5						c.(1768-1770)ACT>GCT		interleukin 18 receptor accessory protein							80.0	90.0	87.0					2																	103068609		2203	4300	6503	SO:0001583	missense	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103068609A>G	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.1768A>G	2.37:g.103068609A>G	ENSP00000264260:p.Thr590Ala					IL18RAP_uc010fiz.2_Missense_Mutation_p.T448A	p.T590A	NM_003853	NP_003844	O95256	I18RA_HUMAN			12	2252	+			590			Cytoplasmic (Potential).		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	37	c.1768A>G	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	A	9.162	1.018895	0.19355	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	T;T	0.02446	4.35;4.29	5.92	-1.16	0.09678	.	3.517330	0.00834	N	0.001695	T	0.02342	0.0072	N	0.14661	0.345	0.09310	N	1	B	0.15141	0.012	B	0.11329	0.006	T	0.44360	-0.9333	10	0.31617	T	0.26	.	6.4054	0.21662	0.448:0.4075:0.1445:0.0	.	590	O95256	I18RA_HUMAN	A	590;448	ENSP00000264260:T590A;ENSP00000387201:T448A	ENSP00000264260:T590A	T	+	1	0	IL18RAP	102435041	0.000000	0.05858	0.296000	0.24974	0.872000	0.50106	-0.272000	0.08560	-0.101000	0.12219	0.528000	0.53228	ACT		0.512	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2		NM_003853		11	33	0	0	0	0.00245	0	11	33		
RGPD3	653489	broad.mit.edu	37	2	107073498	107073498	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:107073498C>T	ENST00000409886.3	-	4	421	c.334G>A	c.(334-336)Gga>Aga	p.G112R	RGPD3_ENST00000304514.7_Missense_Mutation_p.G112R	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	112					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCTGCTCTTCCATCAGTAACA	0.343																																						uc010ywi.1		NaN																	0				ovary(1)	1						c.(334-336)GGA>AGA		RANBP2-like and GRIP domain containing 3							170.0	143.0	151.0					2																	107073498		692	1591	2283	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107073498C>T		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.334G>A	2.37:g.107073498C>T	ENSP00000386588:p.Gly112Arg						p.G112R	NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN			4	391	-			112					B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.334G>A	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	5.002	0.185998	0.09495	.	.	ENSG00000153165	ENST00000409886;ENST00000304514;ENST00000440524	T;T	0.37411	1.2;1.2	2.57	2.57	0.30868	Tetratricopeptide-like helical (1);	.	.	.	.	T	0.31327	0.0793	L	0.47716	1.5	0.27490	N	0.952304	B	0.23490	0.086	B	0.23150	0.044	T	0.19549	-1.0302	9	0.38643	T	0.18	-25.9233	10.9	0.47045	0.0:1.0:0.0:0.0	.	112	A6NKT7	RGPD3_HUMAN	R	112;112;55	ENSP00000386588:G112R;ENSP00000303659:G112R	ENSP00000303659:G112R	G	-	1	0	RGPD3	106439930	1.000000	0.71417	1.000000	0.80357	0.515000	0.34225	3.782000	0.55401	1.430000	0.47334	0.164000	0.16699	GGA		0.343	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1		XM_929931		19	29	0	0	0	0.00333	0	19	29		
NCKAP5	344148	broad.mit.edu	37	2	133540952	133540952	+	Silent	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:133540952A>G	ENST00000409261.1	-	14	3805	c.3432T>C	c.(3430-3432)acT>acC	p.T1144T	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000317721.6_Silent_p.T1144T|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1144										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CTGGAAGGCGAGTTTTCAGTC	0.483																																						uc002ttp.2		NaN																	0					0						c.(3430-3432)ACT>ACC		Nck-associated protein 5 isoform 1							118.0	119.0	119.0					2																	133540952		2030	4183	6213	SO:0001819	synonymous_variant	344148						protein binding	g.chr2:133540952A>G	AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.3432T>C	2.37:g.133540952A>G						NCKAP5_uc002ttq.2_Intron	p.T1144T	NM_207363	NP_997246	O14513	NCKP5_HUMAN			14	3806	-			1144					B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Silent	SNP	ENST00000409261.1	37	c.3432T>C	CCDS46418.1																																																																																				0.483	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1		NM_207481		13	49	0	0	0	0.003163	0	13	49		
R3HDM1	23518	broad.mit.edu	37	2	136409597	136409597	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:136409597C>T	ENST00000264160.4	+	17	2288	c.1918C>T	c.(1918-1920)Cca>Tca	p.P640S	R3HDM1_ENST00000409606.1_Missense_Mutation_p.P641S|R3HDM1_ENST00000329971.3_Missense_Mutation_p.P511S|R3HDM1_ENST00000410054.1_Missense_Mutation_p.P585S|R3HDM1_ENST00000409478.1_Missense_Mutation_p.P512S	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	640							poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		GCAGCCATCACCACAGGTATA	0.443																																						uc002tuo.2		NaN																	0				skin(1)	1						c.(1918-1920)CCA>TCA		R3H domain containing 1							53.0	57.0	56.0					2																	136409597		2203	4300	6503	SO:0001583	missense	23518						nucleic acid binding	g.chr2:136409597C>T	D21852	CCDS2177.1, CCDS63024.1, CCDS63025.1, CCDS63026.1	2q21.3	2012-09-20	2005-09-02	2005-09-02	ENSG00000048991	ENSG00000048991			9757	protein-coding gene	gene with protein product			"""R3H domain (binds single-stranded nucleic acids) containing"""	R3HDM		7584026	Standard	NM_001282798		Approved	KIAA0029	uc002tuo.3	Q15032	OTTHUMG00000131740	ENST00000264160.4:c.1918C>T	2.37:g.136409597C>T	ENSP00000264160:p.Pro640Ser					R3HDM1_uc010fni.2_Missense_Mutation_p.P639S|R3HDM1_uc002tup.2_Missense_Mutation_p.P585S|R3HDM1_uc010zbh.1_Missense_Mutation_p.P388S	p.P640S	NM_015361	NP_056176	Q15032	R3HD1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.127)	17	2288	+			640					A8K1V0|B3KXQ9|E9PBB4|E9PG42|G5E9G8|Q8IW32	Missense_Mutation	SNP	ENST00000264160.4	37	c.1918C>T	CCDS2177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.19|15.19	2.760917|2.760917	0.49468|0.49468	.|.	.|.	ENSG00000048991|ENSG00000048991	ENST00000409478;ENST00000264160;ENST00000329971;ENST00000410054;ENST00000409606|ENST00000429703	T;T;T;T;T|.	0.56444|.	0.46;0.46;0.46;0.46;0.46|.	5.29|5.29	4.4|4.4	0.53042|0.53042	.|.	0.136868|.	0.50627|.	N|.	0.000113|.	T|T	0.65554|0.65554	0.2702|0.2702	L|L	0.57536|0.57536	1.79|1.79	0.37671|0.37671	D|D	0.923124|0.923124	P;B;B;B|.	0.35011|.	0.48;0.017;0.016;0.028|.	B;B;B;B|.	0.30782|.	0.12;0.007;0.007;0.007|.	T|T	0.68522|0.68522	-0.5386|-0.5386	10|5	0.28530|.	T|.	0.3|.	-3.9921|-3.9921	15.5741|15.5741	0.76362|0.76362	0.0:0.8613:0.1387:0.0|0.0:0.8613:0.1387:0.0	.|.	512;641;585;640|.	G5E9G8;E9PBB4;E9PG42;Q15032|.	.;.;.;R3HD1_HUMAN|.	S|I	512;640;511;585;641|363	ENSP00000386457:P512S;ENSP00000264160:P640S;ENSP00000331396:P511S;ENSP00000386877:P585S;ENSP00000387010:P641S|.	ENSP00000264160:P640S|.	P|T	+|+	1|2	0|0	R3HDM1|R3HDM1	136126067|136126067	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	2.415000|2.415000	0.44635|0.44635	1.198000|1.198000	0.43158|0.43158	0.462000|0.462000	0.41574|0.41574	CCA|ACC		0.443	R3HDM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254659.1		NM_015361		34	33	0	0	0	0.005524	0	34	33		
ARL6IP6	151188	broad.mit.edu	37	2	153575447	153575447	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:153575447G>A	ENST00000326446.5	+	1	1020	c.309G>A	c.(307-309)cgG>cgA	p.R103R	PRPF40A_ENST00000486100.1_5'Flank|PRPF40A_ENST00000410080.1_5'Flank	NM_152522.5	NP_689735.1	Q8N6S5	AR6P6_HUMAN	ADP-ribosylation factor-like 6 interacting protein 6	103						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	5						AGCCTCGGCGGTGGCCGGTCC	0.632																																						uc002tyn.2		NaN																	0					0						c.(307-309)CGG>CGA		ADP-ribosylation-like factor 6 interacting							40.0	42.0	41.0					2																	153575447		2197	4289	6486	SO:0001819	synonymous_variant	151188					integral to membrane		g.chr2:153575447G>A	AK023109	CCDS2197.1	2q23	2014-05-12	2014-05-12		ENSG00000177917	ENSG00000177917			24048	protein-coding gene	gene with protein product							Standard	NM_152522		Approved	MGC33864	uc002tyn.3	Q8N6S5	OTTHUMG00000131901	ENST00000326446.5:c.309G>A	2.37:g.153575447G>A						ARL6IP6_uc002tym.2_Intron|ARL6IP6_uc002tyo.2_5'Flank|PRPF40A_uc002tyh.3_5'Flank|PRPF40A_uc010zcd.1_5'Flank|PRPF40A_uc002tyi.2_5'Flank|PRPF40A_uc002tyj.2_5'Flank|PRPF40A_uc002tyl.1_5'Flank	p.R103R	NM_152522	NP_689735	Q8N6S5	AR6P6_HUMAN			1	1025	+			103					B2RDS6|Q7Z4G7	Silent	SNP	ENST00000326446.5	37	c.309G>A	CCDS2197.1																																																																																				0.632	ARL6IP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254852.3		NM_152522		25	35	0	0	0	0.002445	0	25	35		
PKP4	8502	broad.mit.edu	37	2	159517954	159517954	+	Missense_Mutation	SNP	G	G	A	rs200371674		TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:159517954G>A	ENST00000389759.3	+	13	2315	c.2203G>A	c.(2203-2205)Gac>Aac	p.D735N	AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389757.3_Missense_Mutation_p.D735N	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	735					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)				breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						ATCCGATTACGACAGCAAGGT	0.572										HNSCC(62;0.18)			G|||	1	0.000199681	0.0	0.0	5008	,	,		21634	0.0		0.001	False		,,,				2504	0.0					uc002tzv.2		NaN																	0				ovary(5)|skin(2)	7						c.(2203-2205)GAC>AAC		plakophilin 4 isoform a							115.0	100.0	105.0					2																	159517954		2203	4300	6503	SO:0001583	missense	8502				cell adhesion	desmosome	protein binding	g.chr2:159517954G>A	X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.2203G>A	2.37:g.159517954G>A	ENSP00000374409:p.Asp735Asn	HNSCC(62;0.18)				PKP4_uc002tzt.1_Missense_Mutation_p.D587N|PKP4_uc002tzu.2_Missense_Mutation_p.D735N|PKP4_uc002tzw.2_Missense_Mutation_p.D735N|PKP4_uc002tzx.2_Missense_Mutation_p.D392N|PKP4_uc002tzy.1_Missense_Mutation_p.D393N|PKP4_uc002uaa.2_Missense_Mutation_p.D587N|uc002uab.1_RNA|PKP4_uc002uac.2_5'Flank	p.D735N	NM_003628	NP_003619	Q99569	PKP4_HUMAN			13	2463	+			735			ARM 6.		Q86W91	Missense_Mutation	SNP	ENST00000389759.3	37	c.2203G>A	CCDS33305.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	27.7	4.856923	0.91433	.	.	ENSG00000144283	ENST00000428353;ENST00000389757;ENST00000389759	D;D	0.86865	-2.18;-2.18	5.68	5.68	0.88126	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.92873	0.7733	M	0.64630	1.985	0.80722	D	1	D;D;P;D	0.89917	1.0;1.0;0.782;1.0	D;D;B;D	0.91635	0.998;0.999;0.192;0.999	D	0.92116	0.5700	10	0.52906	T	0.07	-18.9662	20.1553	0.98111	0.0:0.0:1.0:0.0	.	690;735;735;586	Q4W5T8;Q99569-2;Q99569;F8W7E2	.;.;PKP4_HUMAN;.	N	586;735;735	ENSP00000374407:D735N;ENSP00000374409:D735N	ENSP00000374407:D735N	D	+	1	0	PKP4	159226200	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.813000	0.99286	2.838000	0.97847	0.591000	0.81541	GAC		0.572	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1				28	140	0	0	0	0.004878	0	28	140		
PLA2R1	22925	broad.mit.edu	37	2	160876633	160876633	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:160876633A>G	ENST00000283243.7	-	8	1642	c.1436T>C	c.(1435-1437)gTc>gCc	p.V479A	PLA2R1_ENST00000392771.1_Missense_Mutation_p.V479A	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	479	C-type lectin 2. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CTCTGCTGAGACACACAGCTG	0.453																																						uc002ube.1		NaN																	0				skin(2)|ovary(1)	3						c.(1435-1437)GTC>GCC		phospholipase A2 receptor 1 isoform 1 precursor							77.0	75.0	75.0					2																	160876633		2203	4300	6503	SO:0001583	missense	22925				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding	g.chr2:160876633A>G	U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.1436T>C	2.37:g.160876633A>G	ENSP00000283243:p.Val479Ala					PLA2R1_uc010zcp.1_Missense_Mutation_p.V479A|PLA2R1_uc002ubf.2_Missense_Mutation_p.V479A	p.V479A	NM_007366	NP_031392	Q13018	PLA2R_HUMAN			8	1643	-			479			Extracellular (Potential).|C-type lectin 2.		B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	ENST00000283243.7	37	c.1436T>C	CCDS33309.1	.	.	.	.	.	.	.	.	.	.	A	22.6	4.312916	0.81358	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	T;T	0.18657	2.2;2.2	6.06	6.06	0.98353	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.123875	0.53938	D	0.000042	T	0.40595	0.1123	L	0.46819	1.47	0.58432	D	0.999998	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.98;0.998;0.999	T	0.04855	-1.0922	10	0.36615	T	0.2	.	16.2708	0.82618	1.0:0.0:0.0:0.0	.	479;479;479	B7ZML4;Q13018-2;Q13018	.;.;PLA2R_HUMAN	A	479	ENSP00000283243:V479A;ENSP00000376524:V479A	ENSP00000283243:V479A	V	-	2	0	PLA2R1	160584879	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.176000	0.71955	2.324000	0.78689	0.533000	0.62120	GTC		0.453	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1				12	20	0	0	0	0.00245	0	12	20		
SCN2A	6326	broad.mit.edu	37	2	166231239	166231239	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:166231239T>G	ENST00000375437.2	+	22	4307	c.4017T>G	c.(4015-4017)aaT>aaG	p.N1339K	SCN2A_ENST00000375427.2_Missense_Mutation_p.N1339K|SCN2A_ENST00000283256.6_Missense_Mutation_p.N1339K|SCN2A_ENST00000357398.3_Missense_Mutation_p.N1339K	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1339					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CTATCATGAATGTACTTCTGG	0.363																																						uc002udc.2		NaN																	0				ovary(6)|breast(1)|pancreas(1)	8						c.(4015-4017)AAT>AAG		sodium channel, voltage-gated, type II, alpha	Lamotrigine(DB00555)						158.0	150.0	153.0					2																	166231239		2203	4300	6503	SO:0001583	missense	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166231239T>G	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.4017T>G	2.37:g.166231239T>G	ENSP00000364586:p.Asn1339Lys					SCN2A_uc002udd.2_Missense_Mutation_p.N1339K|SCN2A_uc002ude.2_Missense_Mutation_p.N1339K	p.N1339K	NM_001040142	NP_001035232	Q99250	SCN2A_HUMAN			22	4307	+			1339			III.		A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	ENST00000375437.2	37	c.4017T>G	CCDS33314.1	.	.	.	.	.	.	.	.	.	.	T	18.44	3.625113	0.66901	.	.	ENSG00000136531	ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D	0.98550	-4.99;-4.99;-4.99;-4.99	4.48	2.09	0.27110	Ion transport (1);	0.000000	0.64402	D	0.000005	D	0.99221	0.9729	H	0.98682	4.3	0.49213	D	0.999768	D;D	0.89917	1.0;0.998	D;D	0.91635	0.957;0.999	D	0.98192	1.0463	10	0.87932	D	0	.	8.1932	0.31381	0.0:0.17:0.0:0.83	.	1339;1339	Q99250-2;Q99250	.;SCN2A_HUMAN	K	1339	ENSP00000364586:N1339K;ENSP00000349973:N1339K;ENSP00000283256:N1339K;ENSP00000364576:N1339K	ENSP00000283256:N1339K	N	+	3	2	SCN2A	165939485	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	0.900000	0.28431	0.218000	0.20820	0.383000	0.25322	AAT		0.363	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2		NM_021007		13	18	0	0	0	0.004007	0	13	18		
SCN9A	6335	broad.mit.edu	37	2	167056069	167056069	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:167056069T>C	ENST00000409435.1	-	26	5079	c.5080A>G	c.(5080-5082)Att>Gtt	p.I1694V	SCN9A_ENST00000409672.1_Missense_Mutation_p.I1683V|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.I1695V|SCN9A_ENST00000375387.4_Missense_Mutation_p.I1695V			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1694					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GAGGTTGTAATTTGGAACAGG	0.408																																						uc010fpl.2		NaN																	0				ovary(6)|central_nervous_system(5)|skin(2)	13						c.(5047-5049)ATT>GTT		sodium channel, voltage-gated, type IX, alpha	Lamotrigine(DB00555)|Lidocaine(DB00281)						176.0	188.0	184.0					2																	167056069		2203	4300	6503	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167056069T>C	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.5080A>G	2.37:g.167056069T>C	ENSP00000386330:p.Ile1694Val					uc002udp.2_Intron	p.I1683V	NM_002977	NP_002968	Q15858	SCN9A_HUMAN			27	5388	-			1694			IV.		A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.5047A>G	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	T	16.71	3.198011	0.58126	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.97114	-4.25;-4.25;-4.25;-4.25	5.86	5.86	0.93980	.	0.000000	0.64402	D	0.000009	D	0.97617	0.9219	M	0.62266	1.93	0.58432	D	0.999994	D	0.57257	0.979	P	0.58780	0.845	D	0.98310	1.0523	10	0.87932	D	0	.	16.2479	0.82454	0.0:0.0:0.0:1.0	.	1683	E7EUN6	.	V	1683;1695;1695;1694	ENSP00000386306:I1683V;ENSP00000364536:I1695V;ENSP00000304748:I1695V;ENSP00000386330:I1694V	ENSP00000304748:I1695V	I	-	1	0	SCN9A	166764315	1.000000	0.71417	0.878000	0.34440	0.867000	0.49689	7.781000	0.85668	2.241000	0.73720	0.533000	0.62120	ATT		0.408	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1		NM_002977		34	95	0	0	0	0.00874	0	34	95		
XIRP2	129446	broad.mit.edu	37	2	168100155	168100156	+	Missense_Mutation	DNP	GC	GC	AT			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:168100155_168100156GC>AT	ENST00000409195.1	+	9	2342_2343	c.2253_2254GC>AT	c.(2251-2256)atGCtg>atATtg	p.M751I	XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.M529I|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.M751I	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	576					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CGGGCCAAATGCTGGAAATTAA	0.366																																						uc002udx.2		NaN																	0				skin(7)|ovary(6)|pancreas(1)	14						c.(2251-2256)ATGCTG>ATATTG		xin actin-binding repeat containing 2 isoform 1																																				SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168100155_168100156GC>AT	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	Exception_encountered	2.37:g.168100155_168100156delinsAT	ENSP00000386840:p.Met751Ile					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.M576I|XIRP2_uc010fpq.2_Missense_Mutation_p.M529I|XIRP2_uc010fpr.2_Intron	p.M751I	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	2271_2272	+			576					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	DNP	ENST00000409195.1	37	c.2253_2254GC>AT	CCDS42769.1																																																																																				0.366	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1		NM_152381		4	24	0	0	0	0.004672	0	4	24		
TTN	7273	broad.mit.edu	37	2	179472309	179472309	+	Silent	SNP	A	A	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:179472309A>C	ENST00000591111.1	-	227	48407	c.48183T>G	c.(48181-48183)ccT>ccG	p.P16061P	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Silent_p.P8829P|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.P15134P|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000589042.1_Silent_p.P17702P|TTN_ENST00000359218.5_Silent_p.P8762P|TTN_ENST00000460472.2_Silent_p.P8637P			Q8WZ42	TITIN_HUMAN	titin	16061	Ig-like 99.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATACTTTTGTAGGTACAGGGC	0.453																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(45400-45402)CCT>CCG		titin isoform N2-A							335.0	316.0	322.0					2																	179472309		1884	4112	5996	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179472309A>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.48183T>G	2.37:g.179472309A>C						uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.P8829P|TTN_uc010zfi.1_Silent_p.P8762P|TTN_uc010zfj.1_Silent_p.P8637P	p.P15134P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		226	45626	-			16061					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.45402T>G																																																																																					0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		41	134	0	0	0	0.00361	0	41	134		
ZC3H15	55854	broad.mit.edu	37	2	187371546	187371546	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:187371546A>G	ENST00000337859.6	+	9	1300	c.1073A>G	c.(1072-1074)tAt>tGt	p.Y358C		NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15	358					cytokine-mediated signaling pathway (GO:0019221)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			TTCAGCACATATACTTCAGAT	0.363																																						uc002upo.2		NaN																	0				skin(1)	1						c.(1072-1074)TAT>TGT		erythropoietin 4 immediate early response							133.0	123.0	126.0					2																	187371546		1849	4093	5942	SO:0001583	missense	55854					cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding	g.chr2:187371546A>G		CCDS42791.1	2q32.1	2012-07-05			ENSG00000065548	ENSG00000065548		"""Zinc fingers, CCCH-type domain containing"""	29528	protein-coding gene	gene with protein product	"""likely ortholog of mouse immediate early response, erythropoietin 4"""					10880228	Standard	NM_018471		Approved	LEREPO4	uc002upo.3	Q8WU90	OTTHUMG00000154251	ENST00000337859.6:c.1073A>G	2.37:g.187371546A>G	ENSP00000338788:p.Tyr358Cys						p.Y358C	NM_018471	NP_060941	Q8WU90	ZC3HF_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)		9	1298	+			358					B4DMW2|D3DPG7|Q5QTQ4|Q8WZ06|Q9NUZ3|Q9NZ37|Q9P079	Missense_Mutation	SNP	ENST00000337859.6	37	c.1073A>G	CCDS42791.1	.	.	.	.	.	.	.	.	.	.	A	18.38	3.610466	0.66558	.	.	ENSG00000065548	ENST00000337859;ENST00000536434;ENST00000445547	T;T	0.53423	1.52;0.62	6.03	4.87	0.63330	.	0.322417	0.34580	N	0.003855	T	0.51126	0.1656	L	0.57536	1.79	0.80722	D	1	D	0.61080	0.989	P	0.49361	0.608	T	0.49698	-0.8912	10	0.39692	T	0.17	-1.1411	11.9766	0.53096	0.9327:0.0:0.0673:0.0	.	358	Q8WU90	ZC3HF_HUMAN	C	358;358;36	ENSP00000338788:Y358C;ENSP00000415788:Y36C	ENSP00000338788:Y358C	Y	+	2	0	ZC3H15	187079791	0.998000	0.40836	0.711000	0.30485	0.981000	0.71138	4.219000	0.58561	1.101000	0.41535	0.454000	0.30748	TAT		0.363	ZC3H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334547.2		NM_018471		11	33	0	0	0	0.00245	0	11	33		
ITGAV	3685	broad.mit.edu	37	2	187533614	187533614	+	Silent	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:187533614T>C	ENST00000261023.3	+	25	2833	c.2559T>C	c.(2557-2559)acT>acC	p.T853T	ITGAV_ENST00000433736.2_Silent_p.T807T|ITGAV_ENST00000474571.1_3'UTR|ITGAV_ENST00000374907.3_Silent_p.T817T|AC017101.10_ENST00000453665.1_RNA	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	853					angiogenesis (GO:0001525)|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)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	TGAACTGCACTTCAGATATGG	0.343																																					Melanoma(58;108 1995 6081)	uc002upq.2		NaN																	0				ovary(2)|kidney(1)|skin(1)	4						c.(2557-2559)ACT>ACC		integrin alpha-V isoform 1 precursor							122.0	120.0	120.0					2																	187533614		2203	4300	6503	SO:0001819	synonymous_variant	3685				angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding	g.chr2:187533614T>C		CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.2559T>C	2.37:g.187533614T>C						ITGAV_uc010frs.2_Silent_p.T817T|ITGAV_uc010zfv.1_Silent_p.T807T	p.T853T	NM_002210	NP_002201	P06756	ITAV_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	25	2835	+			853			Extracellular (Potential).		A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Silent	SNP	ENST00000261023.3	37	c.2559T>C	CCDS2292.1	.	.	.	.	.	.	.	.	.	.	T	9.893	1.204784	0.22205	.	.	ENSG00000138448	ENST00000430709	.	.	.	5.54	0.218	0.15270	.	.	.	.	.	T	0.50888	0.1642	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34279	-0.9835	4	.	.	.	.	5.3584	0.16073	0.0:0.2686:0.2554:0.4759	.	.	.	.	P	4	.	.	L	+	2	0	ITGAV	187241859	1.000000	0.71417	0.986000	0.45419	0.991000	0.79684	0.817000	0.27281	-0.188000	0.10499	-0.256000	0.11100	CTT		0.343	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255882.2		NM_002210		19	27	0	0	0	0.00333	0	19	27		
MYO1B	4430	broad.mit.edu	37	2	192194756	192194756	+	Splice_Site	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:192194756G>T	ENST00000392318.3	+	4	593		c.e4+1		MYO1B_ENST00000304164.4_Splice_Site|MYO1B_ENST00000392316.1_Splice_Site|MYO1B_ENST00000339514.4_Splice_Site	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB						actin filament bundle assembly (GO:0051017)|actin filament organization (GO:0007015)|actin filament-based movement (GO:0030048)|metabolic process (GO:0008152)|post-Golgi vesicle-mediated transport (GO:0006892)	actin filament (GO:0005884)|brush border (GO:0005903)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			GGAAAAACAGGTAAGGCTCCT	0.483																																						uc010fsg.2		NaN																	0				central_nervous_system(5)|large_intestine(2)|ovary(1)	8						c.e4+1		myosin IB isoform 1							130.0	125.0	126.0					2																	192194756		2203	4300	6503	SO:0001630	splice_region_variant	4430					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr2:192194756G>T	L29138	CCDS2311.1, CCDS46477.1	2q12-q34	2011-09-27			ENSG00000128641	ENSG00000128641		"""Myosins / Myosin superfamily : Class I"""	7596	protein-coding gene	gene with protein product		606537				8022818, 8449985	Standard	NM_012223		Approved	myr1	uc010fsg.2	O43795	OTTHUMG00000132718	ENST00000392318.3:c.346+1G>T	2.37:g.192194756G>T						MYO1B_uc002usq.2_Splice_Site_p.E116_splice|MYO1B_uc002usr.2_Splice_Site_p.E116_splice|MYO1B_uc002uss.1_Splice_Site_p.E116_splice	p.E116_splice	NM_001130158	NP_001123630	O43795	MYO1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)		4	601	+								O43794|Q7Z6L5	Splice_Site	SNP	ENST00000392318.3	37	c.346_splice	CCDS46477.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.555580	0.86231	.	.	ENSG00000128641	ENST00000418908;ENST00000339514;ENST00000439452;ENST00000392318;ENST00000304164;ENST00000438652;ENST00000451437;ENST00000392316	.	.	.	5.66	5.66	0.87406	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.6626	0.85245	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYO1B	191903001	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	8.462000	0.90374	2.654000	0.90174	0.650000	0.86243	.		0.483	MYO1B-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334774.1		NM_012223	Intron	19	25	1	0	5.03518e-11	0.007413	5.37337e-11	19	25		
SLC39A10	57181	broad.mit.edu	37	2	196581642	196581642	+	Missense_Mutation	SNP	G	G	A	rs186318919	byFrequency	TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:196581642G>A	ENST00000409086.3	+	7	2253	c.1978G>A	c.(1978-1980)Gat>Aat	p.D660N	SLC39A10_ENST00000359634.5_Missense_Mutation_p.D660N|SLC39A10_ENST00000541054.1_Missense_Mutation_p.D210N	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	660					transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			TTCTGGATCCGATCTGAAAGA	0.493																																						uc002utg.3		NaN																	0				pancreas(1)|skin(1)	2						c.(1978-1980)GAT>AAT		solute carrier family 39 (zinc transporter),							131.0	123.0	126.0					2																	196581642		2203	4300	6503	SO:0001583	missense	57181				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr2:196581642G>A		CCDS33353.1	2q33.1	2013-05-22			ENSG00000196950	ENSG00000196950		"""Solute carriers"""	20861	protein-coding gene	gene with protein product		608733	"""solute carrier family 39 (metal ion transporter), member 10"""			12659941	Standard	NM_020342		Approved	KIAA1265, FLJ90515, DKFZp564L2123	uc002utg.4	Q9ULF5	OTTHUMG00000154380	ENST00000409086.3:c.1978G>A	2.37:g.196581642G>A	ENSP00000386766:p.Asp660Asn					SLC39A10_uc002uth.3_Missense_Mutation_p.D660N|SLC39A10_uc010zgp.1_Missense_Mutation_p.D210N	p.D660N	NM_001127257	NP_001120729	Q9ULF5	S39AA_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.221)		7	2192	+			660					A8K5C6|B4DGU0|Q3MJA4|Q68CR5|Q6DKH6|Q9Y3Z1	Missense_Mutation	SNP	ENST00000409086.3	37	c.1978G>A	CCDS33353.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.585826	0.86748	.	.	ENSG00000196950	ENST00000409086;ENST00000359634;ENST00000541054	T;T;T	0.47869	0.83;0.83;0.83	5.54	5.54	0.83059	.	0.092381	0.64402	D	0.000001	T	0.55737	0.1939	L	0.45137	1.4	0.80722	D	1	D	0.61080	0.989	P	0.53988	0.739	T	0.49244	-0.8960	10	0.39692	T	0.17	.	19.6787	0.95950	0.0:0.0:1.0:0.0	.	660	Q9ULF5	S39AA_HUMAN	N	660;660;210	ENSP00000386766:D660N;ENSP00000352655:D660N;ENSP00000437787:D210N	ENSP00000352655:D660N	D	+	1	0	SLC39A10	196289887	1.000000	0.71417	0.564000	0.28396	0.516000	0.34256	7.333000	0.79214	2.890000	0.99128	0.650000	0.86243	GAT		0.493	SLC39A10-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335186.1		XM_047707		15	70	0	0	0	0.004007	0	15	70		
ALS2	57679	broad.mit.edu	37	2	202593268	202593268	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:202593268G>A	ENST00000264276.6	-	15	3180	c.2808C>T	c.(2806-2808)ttC>ttT	p.F936F	ALS2_ENST00000457679.2_Silent_p.F248F	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	936	PH. {ECO:0000305}.				behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TAAAGAGAATGAACCAATTCA	0.488																																						uc002uyo.2		NaN																	0				skin(5)|lung(1)|breast(1)	7						c.(2806-2808)TTC>TTT		alsin isoform 1							106.0	106.0	106.0					2																	202593268		1913	4123	6036	SO:0001819	synonymous_variant	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202593268G>A	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.2808C>T	2.37:g.202593268G>A						ALS2_uc002uyp.3_Silent_p.F936F|ALS2_uc010ftl.2_RNA	p.F936F	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN			15	3164	-			936			PH.		Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Silent	SNP	ENST00000264276.6	37	c.2808C>T	CCDS42800.1																																																																																				0.488	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3		NM_020919		6	47	0	0	0	0.001168	0	6	47		
FZD7	8324	broad.mit.edu	37	2	202899544	202899544	+	Silent	SNP	G	G	C	rs556542493		TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:202899544G>C	ENST00000286201.1	+	1	235	c.174G>C	c.(172-174)acG>acC	p.T58T	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	58	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of ectodermal cell fate specification (GO:0042666)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of catenin import into nucleus (GO:0035412)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|stem cell maintenance (GO:0019827)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						CGCTGTGCACGGACATCGCCT	0.672																																						uc002uyw.1		NaN																	0				skin(2)|ovary(1)|breast(1)	4						c.(172-174)ACG>ACC		frizzled 7 precursor							124.0	105.0	111.0					2																	202899544		2203	4300	6503	SO:0001819	synonymous_variant	8324				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr2:202899544G>C	AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760		"""GPCR / Class F : Frizzled receptors"""	4045	protein-coding gene	gene with protein product		603410	"""frizzled (Drosophila) homolog 7"", ""frizzled homolog 7 (Drosophila)"", ""frizzled 7, seven transmembrane spanning receptor"", ""frizzled family receptor 7"""			9707618, 9813155	Standard	NM_003507		Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.174G>C	2.37:g.202899544G>C							p.T58T	NM_003507	NP_003498	O75084	FZD7_HUMAN			1	235	+			58			FZ.|Extracellular (Potential).		O94816|Q53S59|Q96B74	Silent	SNP	ENST00000286201.1	37	c.174G>C	CCDS2351.1																																																																																				0.672	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256314.1		NM_003507		61	188	0	0	0	0.00361	0	61	188		
PTPRN	5798	broad.mit.edu	37	2	220166979	220166979	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:220166979T>C	ENST00000295718.2	-	6	1114	c.874A>G	c.(874-876)Agg>Ggg	p.R292G	PTPRN_ENST00000423636.2_Missense_Mutation_p.R202G|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000409251.3_Missense_Mutation_p.R292G	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	292					cytokine-mediated signaling pathway (GO:0019221)|peptidyl-tyrosine dephosphorylation (GO:0035335)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|response to reactive oxygen species (GO:0000302)	integral component of plasma membrane (GO:0005887)	spectrin binding (GO:0030507)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CTTGGCACCCTGGCCCTGCTG	0.632																																						uc002vkz.2		NaN																	0				ovary(2)|lung(1)|skin(1)	4						c.(874-876)AGG>GGG		protein tyrosine phosphatase, receptor type, N							36.0	38.0	37.0					2																	220166979		2203	4300	6503	SO:0001583	missense	5798				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr2:220166979T>C		CCDS2440.1, CCDS56167.1, CCDS56168.1	2q35-q36.1	2011-06-09			ENSG00000054356	ENSG00000054356		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9676	protein-coding gene	gene with protein product		601773				8024693	Standard	NM_001199763		Approved	IA-2	uc002vkz.3	Q16849	OTTHUMG00000133129	ENST00000295718.2:c.874A>G	2.37:g.220166979T>C	ENSP00000295718:p.Arg292Gly					PTPRN_uc010zlc.1_Missense_Mutation_p.R202G|PTPRN_uc002vla.2_Missense_Mutation_p.R292G	p.R292G	NM_002846	NP_002837	Q16849	PTPRN_HUMAN		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)	6	963	-		Renal(207;0.0474)	292			Extracellular (Potential).		B4DK12|F5GZS3|Q08319|Q53QD6|Q6NSL1	Missense_Mutation	SNP	ENST00000295718.2	37	c.874A>G	CCDS2440.1	.	.	.	.	.	.	.	.	.	.	T	5.593	0.294251	0.10567	.	.	ENSG00000054356	ENST00000409251;ENST00000295718;ENST00000539342;ENST00000537666	T;T;T	0.03745	3.82;3.87;3.87	4.67	2.19	0.27852	.	0.545783	0.17165	N	0.184498	T	0.02727	0.0082	N	0.19112	0.55	0.09310	N	1	B;B	0.27559	0.181;0.0	B;B	0.21360	0.034;0.001	T	0.43798	-0.9369	10	0.42905	T	0.14	.	9.5201	0.39129	0.0:0.0:0.3612:0.6388	.	292;292	Q6NSL1;Q16849	.;PTPRN_HUMAN	G	292;292;292;202	ENSP00000386638:R292G;ENSP00000295718:R292G;ENSP00000444244:R202G	ENSP00000295718:R292G	R	-	1	2	PTPRN	219875223	0.180000	0.23148	0.059000	0.19551	0.083000	0.17756	0.435000	0.21510	0.266000	0.21894	0.459000	0.35465	AGG		0.632	PTPRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256819.2				37	16	0	0	0	0.00623	0	37	16		
COL4A3	1285	broad.mit.edu	37	2	228113226	228113226	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:228113226C>T	ENST00000396578.3	+	9	698	c.536C>T	c.(535-537)cCa>cTa	p.P179L	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000606119.1_RNA|AC097662.2_ENST00000437673.1_RNA|AC097662.2_ENST00000396588.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	179	Triple-helical region.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|collagen catabolic process (GO:0030574)|endothelial cell apoptotic process (GO:0072577)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glomerular basement membrane development (GO:0032836)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|sensory perception of sound (GO:0007605)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metalloendopeptidase inhibitor activity (GO:0008191)|structural molecule activity (GO:0005198)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CCAGGGGCTCCAGGACCCCAG	0.463																																						uc002vom.1		NaN																	0				skin(2)|ovary(1)	3						c.(535-537)CCA>CTA		alpha 3 type IV collagen isoform 1 precursor							53.0	52.0	52.0					2																	228113226		1826	4081	5907	SO:0001583	missense	1285				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity	g.chr2:228113226C>T		CCDS42829.1	2q36-q37	2014-09-17			ENSG00000169031	ENSG00000169031		"""Collagens"""	2204	protein-coding gene	gene with protein product	"""tumstatin"""	120070				1737849	Standard	NM_000091		Approved		uc002vom.2	Q01955	OTTHUMG00000149891	ENST00000396578.3:c.536C>T	2.37:g.228113226C>T	ENSP00000379823:p.Pro179Leu					COL4A3_uc002von.1_Missense_Mutation_p.P179L|COL4A3_uc002voo.1_Missense_Mutation_p.P179L|COL4A3_uc002vop.1_Missense_Mutation_p.P179L|uc002voq.1_Intron|uc002vor.1_Intron	p.P179L	NM_000091	NP_000082	Q01955	CO4A3_HUMAN		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)	9	698	+		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)	179			Triple-helical region.		Q53QQ1|Q53R14|Q53RW8|Q9BQT2|Q9NYC4|Q9UDJ9|Q9UDK9|Q9UDL0|Q9UDL1	Missense_Mutation	SNP	ENST00000396578.3	37	c.536C>T	CCDS42829.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.757169	0.69648	.	.	ENSG00000169031	ENST00000396578;ENST00000328380;ENST00000335583;ENST00000396574;ENST00000315699	D	0.96685	-4.09	5.81	4.88	0.63580	.	0.000000	0.56097	D	0.000040	D	0.97782	0.9272	M	0.84326	2.69	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.992;0.999;0.999	D	0.97022	0.9744	10	0.44086	T	0.13	.	12.0377	0.53435	0.0:0.8269:0.1731:0.0	.	179;179;179;179	Q01955-5;Q01955-4;Q01955-2;Q01955	.;.;.;CO4A3_HUMAN	L	179	ENSP00000379823:P179L	ENSP00000323334:P179L	P	+	2	0	COL4A3	227821470	0.964000	0.33143	0.996000	0.52242	0.706000	0.40770	2.513000	0.45494	2.763000	0.94921	0.650000	0.86243	CCA		0.463	COL4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331409.2		NM_000091		12	6	0	0	0	0.003163	0	12	6		
ALPI	248	broad.mit.edu	37	2	233322746	233322746	+	Nonsense_Mutation	SNP	C	C	T	rs147248868	byFrequency	TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:233322746C>T	ENST00000295463.3	+	8	972	c.895C>T	c.(895-897)Cga>Tga	p.R299*		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	299					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TGAGATCCACCGAGACCCCAC	0.617													C|||	5	0.000998403	0.0	0.0	5008	,	,		17299	0.0		0.0	False		,,,				2504	0.0051					uc002vst.3		NaN																	0				central_nervous_system(1)	1						c.(895-897)CGA>TGA		intestinal alkaline phosphatase precursor		C	stop/ARG	0,4406		0,0,2203	90.0	97.0	95.0		895	3.6	0.0	2	dbSNP_134	95	2,8598	2.2+/-6.3	0,2,4298	no	stop-gained	ALPI	NM_001631.3		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		299/529	233322746	2,13004	2203	4300	6503	SO:0001587	stop_gained	248				phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding	g.chr2:233322746C>T	M15694	CCDS2492.1	2q37.1	2008-02-05			ENSG00000163295	ENSG00000163295	3.1.3.1		437	protein-coding gene	gene with protein product		171740				3468508, 3469665	Standard	NM_001631		Approved		uc002vst.4	P09923	OTTHUMG00000133258	ENST00000295463.3:c.895C>T	2.37:g.233322746C>T	ENSP00000295463:p.Arg299*					ALPI_uc002vsu.3_Nonsense_Mutation_p.R210*	p.R299*	NM_001631	NP_001622	P09923	PPBI_HUMAN		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)	8	972	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	299					B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	Nonsense_Mutation	SNP	ENST00000295463.3	37	c.895C>T	CCDS2492.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.583358	0.86748	0.0	2.33E-4	ENSG00000163295	ENST00000295463	.	.	.	4.46	3.57	0.40892	.	0.183825	0.45606	D	0.000351	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.0405	0.58897	0.1615:0.8385:0.0:0.0	.	.	.	.	X	299	.	ENSP00000295463:R299X	R	+	1	2	ALPI	233030990	0.059000	0.20769	0.014000	0.15608	0.010000	0.07245	0.563000	0.23547	1.069000	0.40788	0.561000	0.74099	CGA		0.617	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257035.2		NM_001631		62	28	0	0	0	0.00361	0	62	28		
USP40	55230	broad.mit.edu	37	2	234460031	234460031	+	Silent	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:234460031A>G	ENST00000427112.2	-	6	863	c.828T>C	c.(826-828)ttT>ttC	p.F276F	USP40_ENST00000251722.6_Silent_p.F276F|USP40_ENST00000450966.1_Silent_p.F288F			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	276	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		CCTGTTCACAAAAGGGCTTGA	0.328																																						uc010zmu.1		NaN																	0				ovary(1)|lung(1)|breast(1)	3						c.(826-828)TTT>TTC		SubName: Full=cDNA FLJ56772, highly similar to Ubiquitin carboxyl-terminal hydrolase 40 (EC 3.1.2.15);							55.0	53.0	54.0					2																	234460031		1805	4064	5869	SO:0001819	synonymous_variant	55230				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:234460031A>G	AK001647	CCDS46547.1	2q37.1	2005-08-08	2005-08-08		ENSG00000085982	ENSG00000085982		"""Ubiquitin-specific peptidases"""	20069	protein-coding gene	gene with protein product		610570	"""ubiquitin specific protease 40"""			12838346	Standard	NM_018218		Approved	FLJ10785	uc010zmr.2	Q9NVE5	OTTHUMG00000153199	ENST00000427112.2:c.828T>C	2.37:g.234460031A>G						USP40_uc010zmr.1_Silent_p.F288F|USP40_uc010zmt.1_5'Flank	p.F276F			Q9NVE5	UBP40_HUMAN		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)	7	946	-		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)	276					Q6NX38|Q70EL0	Silent	SNP	ENST00000427112.2	37	c.828T>C	CCDS46547.1																																																																																				0.328	USP40-017	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397235.1		XM_114294		6	1	0	0	0	0.006214	0	6	1		
KLHL30	377007	broad.mit.edu	37	2	239054468	239054468	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:239054468T>C	ENST00000409223.1	+	5	1252	c.1145T>C	c.(1144-1146)aTc>aCc	p.I382T	KLHL30_ENST00000305959.4_Missense_Mutation_p.I364T			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	382										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		ATCTACGTTATCGGCGGTGAG	0.657																																						uc002vxr.1		NaN																	0					0						c.(1090-1092)ATC>ACC		kelch-like 30							22.0	30.0	28.0					2																	239054468		2051	4180	6231	SO:0001583	missense	377007							g.chr2:239054468T>C		CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427		"""Kelch-like"", ""BTB/POZ domain containing"""	24770	protein-coding gene	gene with protein product			"""kelch-like 30 (Drosophila)"""				Standard	NM_198582		Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.1145T>C	2.37:g.239054468T>C	ENSP00000386389:p.Ile382Thr						p.I364T	NM_198582	NP_940984	Q0D2K2	KLH30_HUMAN		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	4	1124	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	382			Kelch 3.		Q6ZUS1	Missense_Mutation	SNP	ENST00000409223.1	37	c.1091T>C	CCDS46555.2	.	.	.	.	.	.	.	.	.	.	T	16.09	3.024609	0.54683	.	.	ENSG00000168427	ENST00000409223;ENST00000305959	D;D	0.84070	-1.8;-1.8	4.62	4.62	0.57501	Kelch-type beta propeller (1);	0.132994	0.48767	D	0.000171	D	0.86657	0.5985	L	0.58354	1.805	0.49213	D	0.999765	D	0.57571	0.98	P	0.57679	0.825	D	0.87953	0.2725	10	0.72032	D	0.01	.	13.0137	0.58745	0.0:0.0:0.0:1.0	.	382	Q0D2K2	KLH30_HUMAN	T	382;364	ENSP00000386389:I382T;ENSP00000302386:I364T	ENSP00000302386:I364T	I	+	2	0	KLHL30	238719207	1.000000	0.71417	0.028000	0.17463	0.144000	0.21451	7.971000	0.88012	1.717000	0.51406	0.443000	0.29094	ATC		0.657	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328518.1		NM_198582		25	7	0	0	0	0.002445	0	25	7		
PLCB1	23236	broad.mit.edu	37	20	8862423	8862423	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr20:8862423T>G	ENST00000338037.6	+	32	3605	c.3578T>G	c.(3577-3579)gTg>gGg	p.V1193G	PLCB1_ENST00000378641.3_3'UTR	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1193					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CCTGGAAAAGTGAACCACAAG	0.502																																						uc002wnb.2		NaN																	0				ovary(4)|breast(3)|upper_aerodigestive_tract(2)|skin(2)|lung(1)	12						c.(3577-3579)GTG>GGG		phosphoinositide-specific phospholipase C beta 1							144.0	153.0	150.0					20																	8862423		2203	4300	6503	SO:0001583	missense	23236				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	g.chr20:8862423T>G	AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.3578T>G	20.37:g.8862423T>G	ENSP00000338185:p.Val1193Gly					PLCB1_uc002wna.2_3'UTR	p.V1193G	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN			32	3581	+			1193					D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	c.3578T>G	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	T	7.375	0.627534	0.14257	.	.	ENSG00000182621	ENST00000338037;ENST00000441163	T	0.18810	2.19	5.98	4.87	0.63330	.	0.544663	0.19266	N	0.118542	T	0.10165	0.0249	N	0.08118	0	0.80722	D	1	B	0.09022	0.002	B	0.12156	0.007	T	0.20706	-1.0267	10	0.22109	T	0.4	.	8.5989	0.33732	0.0:0.1996:0.0:0.8004	.	1193	Q9NQ66	PLCB1_HUMAN	G	1193;1113	ENSP00000338185:V1193G	ENSP00000338185:V1193G	V	+	2	0	PLCB1	8810423	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.002000	0.49496	2.289000	0.77006	0.533000	0.62120	GTG		0.502	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3				59	68	0	0	0	0.00361	0	59	68		
SEL1L2	80343	broad.mit.edu	37	20	13856714	13856714	+	Silent	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr20:13856714G>C	ENST00000284951.5	-	12	1148	c.1074C>G	c.(1072-1074)gcC>gcG	p.A358A	SEL1L2_ENST00000378072.5_Silent_p.A358A|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	358						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						AGTACTTGAAGGCAGTAGCGT	0.388																																						uc010gcf.2		NaN																	0				ovary(2)	2						c.(1072-1074)GCC>GCG		sel-1 suppressor of lin-12-like 2 precursor							189.0	181.0	184.0					20																	13856714		1925	4137	6062	SO:0001819	synonymous_variant	80343					integral to membrane	binding	g.chr20:13856714G>C	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.1074C>G	20.37:g.13856714G>C						SEL1L2_uc002woq.3_Silent_p.A219A|SEL1L2_uc010zrl.1_Silent_p.A358A|SEL1L2_uc002wor.2_RNA	p.A358A	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN			12	1156	-			358			Extracellular (Potential).|Sel1-like 6.		B4DXX5	Silent	SNP	ENST00000284951.5	37	c.1074C>G																																																																																					0.388	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3		NM_025229		23	94	0	0	0	0.00632	0	23	94		
BPIFB4	149954	broad.mit.edu	37	20	31688261	31688261	+	Silent	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr20:31688261A>G	ENST00000375483.3	+	12	1599	c.1599A>G	c.(1597-1599)acA>acG	p.T533T		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	533			T -> I (in dbSNP:rs11696307).			cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										CATTTTCCACAGAAGGAGATA	0.527																																						uc010zue.1		NaN																	0					0						c.(1597-1599)ACA>ACG		antimicrobial peptide RY2G5 precursor							173.0	143.0	153.0					20																	31688261		2203	4300	6503	SO:0001819	synonymous_variant	149954					cytoplasm|extracellular region	lipid binding	g.chr20:31688261A>G	AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.1599A>G	20.37:g.31688261A>G							p.T533T	NM_182519	NP_872325	P59827	LPLC4_HUMAN			12	1614	+			533					Q5TDX6	Silent	SNP	ENST00000375483.3	37	c.1599A>G	CCDS13213.2																																																																																				0.527	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078655.5		NM_182519		5	33	0	0	0	0.003163	0	5	33		
EDEM2	55741	broad.mit.edu	37	20	33735053	33735053	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr20:33735053G>A	ENST00000374492.3	-	1	114	c.9C>T	c.(7-9)ttC>ttT	p.F3F	EDEM2_ENST00000374491.3_Silent_p.F3F|EDEM2_ENST00000540582.1_Intron|EDEM2_ENST00000542871.1_5'UTR|EDEM2_ENST00000541621.1_5'Flank	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	3					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TGAGCAGCCGGAAAGGCATAG	0.677																																					Esophageal Squamous(51;906 1021 24535 36410 39145)	uc002xbo.2		NaN																	0					0						c.(7-9)TTC>TTT		ER degradation enhancer, mannosidase alpha-like							17.0	17.0	17.0					20																	33735053		2196	4290	6486	SO:0001819	synonymous_variant	55741				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr20:33735053G>A	AK001645	CCDS13247.1, CCDS46592.1	20q11.22	2006-03-31	2006-03-31	2006-03-31	ENSG00000088298	ENSG00000088298			15877	protein-coding gene	gene with protein product		610302	"""chromosome 20 open reading frame 31"""	C20orf49, C20orf31		15537790, 15579471	Standard	NM_018217		Approved	FLJ10783, bA4204.1	uc002xbo.2	Q9BV94	OTTHUMG00000032322	ENST00000374492.3:c.9C>T	20.37:g.33735053G>A						EDEM2_uc010zuv.1_Intron|EDEM2_uc010zus.1_5'Flank|EDEM2_uc002xbq.2_Silent_p.F3F|EDEM2_uc010zut.1_5'UTR|EDEM2_uc002xbp.2_5'UTR|EDEM2_uc002xbn.2_5'UTR|EDEM2_uc002xbr.2_RNA|EDEM2_uc010zuu.1_5'UTR	p.F3F	NM_018217	NP_060687	Q9BV94	EDEM2_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)		1	109	-			3					B4DTG9|Q6GU33|Q6IA89|Q6UWZ4|Q9H4U0|Q9H886|Q9NTL9|Q9NVE6	Silent	SNP	ENST00000374492.3	37	c.9C>T	CCDS13247.1																																																																																				0.677	EDEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078842.2		NM_018217		49	34	0	0	0	0.00361	0	49	34		
CHD6	84181	broad.mit.edu	37	20	40049605	40049605	+	Silent	SNP	T	T	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr20:40049605T>A	ENST00000373233.3	-	31	5847	c.5670A>T	c.(5668-5670)gtA>gtT	p.V1890V		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1890					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TGAGATGCAATACCTCTGGCC	0.483																																						uc002xka.1		NaN																	0				ovary(6)|skin(5)|lung(2)|central_nervous_system(1)	14						c.(5668-5670)GTA>GTT		chromodomain helicase DNA binding protein 6							133.0	134.0	133.0					20																	40049605		2203	4300	6503	SO:0001819	synonymous_variant	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40049605T>A	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.5670A>T	20.37:g.40049605T>A							p.V1890V	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN			31	5848	-		Myeloproliferative disorder(115;0.00425)	1890					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	ENST00000373233.3	37	c.5670A>T	CCDS13317.1																																																																																				0.483	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1				23	20	0	0	0	0.003954	0	23	20		
KCNK15	60598	broad.mit.edu	37	20	43374640	43374640	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr20:43374640A>T	ENST00000372861.3	+	1	220	c.89A>T	c.(88-90)gAg>gTg	p.E30V	RP11-445H22.4_ENST00000445420.1_RNA|RP11-445H22.4_ENST00000427303.1_RNA	NM_022358.3	NP_071753.2	Q9H427	KCNKF_HUMAN	potassium channel, subfamily K, member 15	30					regulation of ion transmembrane transport (GO:0034765)	integral component of membrane (GO:0016021)	potassium channel activity (GO:0005267)			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(115;0.0122)				GACGCGCTCGAGTCCGAGGCG	0.721																																						uc002xmr.2		NaN																	0					0						c.(88-90)GAG>GTG		potassium family, subfamily K, member 15							8.0	14.0	12.0					20																	43374640		2168	4228	6396	SO:0001583	missense	60598					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr20:43374640A>T	AF257081	CCDS13337.1	20q13.12	2012-03-07			ENSG00000124249	ENSG00000124249		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	13814	protein-coding gene	gene with protein product		607368		KCNK11, KCNK14		11409881, 11431495, 16382106	Standard	NM_022358		Approved	K2p15.1, dJ781B1.1, KT3.3, KIAA0237, TASK5, TASK-5	uc002xmr.3	Q9H427	OTTHUMG00000032544	ENST00000372861.3:c.89A>T	20.37:g.43374640A>T	ENSP00000361952:p.Glu30Val						p.E30V	NM_022358	NP_071753	Q9H427	KCNKF_HUMAN			1	153	+		Myeloproliferative disorder(115;0.0122)	30					Q52LL3|Q9HBC8	Missense_Mutation	SNP	ENST00000372861.3	37	c.89A>T	CCDS13337.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.408255	0.83340	.	.	ENSG00000124249	ENST00000372861	T	0.48522	0.81	4.04	4.04	0.47022	.	0.000000	0.85682	D	0.000000	T	0.73644	0.3613	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80286	-0.1446	10	0.87932	D	0	.	11.9596	0.53001	1.0:0.0:0.0:0.0	.	30	Q9H427	KCNKF_HUMAN	V	30	ENSP00000361952:E30V	ENSP00000361952:E30V	E	+	2	0	KCNK15	42808054	1.000000	0.71417	1.000000	0.80357	0.624000	0.37722	6.650000	0.74368	1.688000	0.51068	0.455000	0.32223	GAG		0.721	KCNK15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079378.2		NM_022358		4	17	0	0	0	0.009096	0	4	17		
STK4	6789	broad.mit.edu	37	20	43607147	43607147	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr20:43607147A>T	ENST00000372806.3	+	3	275	c.180A>T	c.(178-180)caA>caT	p.Q60H	STK4_ENST00000372801.1_Missense_Mutation_p.Q60H|STK4_ENST00000499879.2_Missense_Mutation_p.Q60H|STK4_ENST00000396731.4_Missense_Mutation_p.Q60H	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	60	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|cell morphogenesis (GO:0000902)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|keratinocyte differentiation (GO:0030216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				CTATTAAGCAAGTTCCTGTGG	0.413																																					GBM(187;1039 2137 11798 21916 33213)	uc002xnb.2		NaN																	0				ovary(1)|skin(1)	2						c.(178-180)CAA>CAT		serine/threonine kinase 4							93.0	93.0	93.0					20																	43607147		2203	4300	6503	SO:0001583	missense	6789				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding	g.chr20:43607147A>T		CCDS13341.1	20q11.2-q13.2	2014-09-17			ENSG00000101109	ENSG00000101109			11408	protein-coding gene	gene with protein product	"""mammalian sterile 20-like 1"", ""yeast Ste20-like"", ""kinase responsive to stress 2"""	604965				8816758, 9545236, 11517310	Standard	NM_006282		Approved	MST1, KRS2, YSK3	uc002xnb.3	Q13043	OTTHUMG00000033059	ENST00000372806.3:c.180A>T	20.37:g.43607147A>T	ENSP00000361892:p.Gln60His					STK4_uc010ggx.2_Missense_Mutation_p.Q60H|STK4_uc010ggy.2_Missense_Mutation_p.Q60H|STK4_uc010ggw.1_Missense_Mutation_p.Q60H	p.Q60H	NM_006282	NP_006273	Q13043	STK4_HUMAN			3	270	+		Myeloproliferative disorder(115;0.0122)	60			Protein kinase.		B2RCR8|Q15802|Q4G156|Q5H982|Q6PD60|Q9BR32|Q9NTZ4	Missense_Mutation	SNP	ENST00000372806.3	37	c.180A>T	CCDS13341.1	.	.	.	.	.	.	.	.	.	.	A	21.0	4.089471	0.76756	.	.	ENSG00000101109	ENST00000372806;ENST00000396731;ENST00000372801;ENST00000499879	T;T;T;T	0.14022	2.54;2.54;2.54;2.54	5.63	4.51	0.55191	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.053866	0.85682	D	0.000000	T	0.25606	0.0623	L	0.44542	1.39	0.52501	D	0.999955	D;D;P;D	0.89917	1.0;0.962;0.865;0.99	D;P;P;P	0.73708	0.981;0.735;0.688;0.894	T	0.00855	-1.1539	10	0.45353	T	0.12	.	8.8917	0.35437	0.7896:0.0:0.2104:0.0	.	60;60;60;60	F5H5B4;Q13043-2;A0PJ51;Q13043	.;.;.;STK4_HUMAN	H	60	ENSP00000361892:Q60H;ENSP00000379957:Q60H;ENSP00000361887:Q60H;ENSP00000443514:Q60H	ENSP00000361887:Q60H	Q	+	3	2	STK4	43040561	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.866000	0.27954	0.913000	0.36797	0.533000	0.62120	CAA		0.413	STK4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080401.4		NM_006282		11	28	0	0	0	0.001855	0	11	28		
TAF4	6874	broad.mit.edu	37	20	60581776	60581776	+	Silent	SNP	G	G	A	rs370500200		TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr20:60581776G>A	ENST00000252996.4	-	7	2012	c.2013C>T	c.(2011-2013)tcC>tcT	p.S671S		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	671	TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|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)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			TGAAGGCCGCGGAGTCGGGGG	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		13579	0.001		0.0	False		,,,				2504	0.0					uc002ybs.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(2011-2013)TCC>TCT		TBP-associated factor 4		G		0,4382		0,0,2191	28.0	37.0	34.0		2013	-4.6	1.0	20		34	1,8533		0,1,4266	no	coding-synonymous	TAF4	NM_003185.3		0,1,6457	AA,AG,GG		0.0117,0.0,0.0077		671/1086	60581776	1,12915	2191	4267	6458	SO:0001819	synonymous_variant	6874				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr20:60581776G>A	Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"""	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.2013C>T	20.37:g.60581776G>A							p.S671S	NM_003185	NP_003176	O00268	TAF4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.1e-07)		7	2013	-	Breast(26;1e-08)		671			TAFH.		A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Silent	SNP	ENST00000252996.4	37	c.2013C>T	CCDS33500.1																																																																																				0.657	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2		NM_003185		99	93	0	0	0	0.00361	0	99	93		
MRPS6	64968	broad.mit.edu	37	21	35497670	35497670	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr21:35497670G>A	ENST00000399312.2	+	2	253	c.75G>A	c.(73-75)acG>acA	p.T25T	AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000482679.1_3'UTR	NM_032476.3	NP_115865.1	P82932	RT06_HUMAN	mitochondrial ribosomal protein S6	25					translation (GO:0006412)	mitochondrion (GO:0005739)|small ribosomal subunit (GO:0015935)	rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|pancreas(1)|skin(1)	6						TGAAACGTACGATAGAGGCCC	0.418																																						uc002ytp.2		NaN																	0				skin(1)	1						c.(73-75)ACG>ACA		mitochondrial ribosomal protein S6							146.0	153.0	150.0					21																	35497670		2203	4300	6503	SO:0001819	synonymous_variant	64968				translation	mitochondrion|small ribosomal subunit	rRNA binding|structural constituent of ribosome	g.chr21:35497670G>A	AB051347	CCDS33548.1	21q22.11	2012-09-13	2002-06-20		ENSG00000243927	ENSG00000243927		"""Mitochondrial ribosomal proteins / small subunits"""	14051	protein-coding gene	gene with protein product		611973	"""chromosome 21 open reading frame 101"""	C21orf101			Standard	NM_032476		Approved	MRP-S6, RPMS6	uc002ytp.2	P82932	OTTHUMG00000065820	ENST00000399312.2:c.75G>A	21.37:g.35497670G>A							p.T25T	NM_032476	NP_115865	P82932	RT06_HUMAN			2	253	+			25					B2R573|Q96Q64|Q9BSK8|Q9BW89	Silent	SNP	ENST00000399312.2	37	c.75G>A	CCDS33548.1																																																																																				0.418	MRPS6-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000141033.1		NM_032476		44	44	0	0	0	0.00361	0	44	44		
RIPPLY3	53820	broad.mit.edu	37	21	38390265	38390265	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr21:38390265T>G	ENST00000329553.2	+	4	541	c.331T>G	c.(331-333)Ttc>Gtc	p.F111V	RIPPLY3_ENST00000485272.1_3'UTR	NM_018962.2	NP_061835.1	P57055	DSCR6_HUMAN	ripply transcriptional repressor 3	111	Ripply homology domain.				heart development (GO:0007507)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pharyngeal system development (GO:0060037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)											CACGATTGACTTCTACGACGA	0.537																																						uc002yvv.2		NaN																	0				breast(1)	1						c.(331-333)TTC>GTC		Down syndrome critical region protein 6							45.0	43.0	44.0					21																	38390265		2203	4300	6503	SO:0001583	missense	53820					nucleus		g.chr21:38390265T>G	AB037158	CCDS13648.1	21q22.2	2013-07-23	2013-07-23	2013-06-04	ENSG00000183145	ENSG00000183145			3047	protein-coding gene	gene with protein product		609892	"""Down syndrome critical region gene 6"", ""ripply3 homolog (zebrafish)"""	DSCR6		10814524, 22354841	Standard	NM_018962		Approved			P57055	OTTHUMG00000086639	ENST00000329553.2:c.331T>G	21.37:g.38390265T>G	ENSP00000331734:p.Phe111Val					DSCR6_uc011aec.1_5'UTR|DSCR6_uc010gnd.2_5'UTR	p.F111V	NM_018962	NP_061835	P57055	DSCR6_HUMAN			4	541	+		Myeloproliferative disorder(46;0.0632)	111			Ripply homology domain.			Missense_Mutation	SNP	ENST00000329553.2	37	c.331T>G	CCDS13648.1	.	.	.	.	.	.	.	.	.	.	T	20.0	3.930048	0.73327	.	.	ENSG00000183145	ENST00000329553	.	.	.	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.77538	0.4145	M	0.77313	2.365	0.47407	D	0.999414	D	0.89917	1.0	D	0.87578	0.998	T	0.80171	-0.1493	9	0.72032	D	0.01	-18.7439	11.2775	0.49176	0.0:0.0:0.0:1.0	.	111	P57055	DSCR6_HUMAN	V	111	.	ENSP00000331734:F111V	F	+	1	0	DSCR6	37312135	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	4.320000	0.59203	2.090000	0.63153	0.459000	0.35465	TTC		0.537	RIPPLY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194703.1				12	29	0	0	0	0.00245	0	12	29		
TFF1	7031	broad.mit.edu	37	21	43786556	43786556	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr21:43786556T>C	ENST00000291527.2	-	1	147	c.49A>G	c.(49-51)Atg>Gtg	p.M17V		NM_003225.2	NP_003216.1	P04155	TFF1_HUMAN	trefoil factor 1	17					carbohydrate metabolic process (GO:0005975)|cell differentiation (GO:0030154)|digestion (GO:0007586)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of cell proliferation (GO:0008285)|response to estradiol (GO:0032355)|response to iron ion (GO:0010039)|response to peptide hormone (GO:0043434)	extracellular space (GO:0005615)				cervix(1)|lung(1)	2						AGGGCCAGCATGGACACCAGG	0.667																																						uc002zax.1		NaN																	0					0						c.(49-51)ATG>GTG		trefoil factor 1 precursor							49.0	45.0	46.0					21																	43786556		2203	4300	6503	SO:0001583	missense	7031				carbohydrate metabolic process|response to estradiol stimulus		growth factor activity	g.chr21:43786556T>C	BC032811	CCDS13685.1	21q22.3	2012-10-02	2007-01-29		ENSG00000160182	ENSG00000160182			11755	protein-coding gene	gene with protein product		113710	"""breast cancer, estrogen-inducible sequence expressed in"""	BCEI		9043862	Standard	NM_003225		Approved	D21S21, HPS2, pS2, pNR-2, HP1.A	uc002zax.1	P04155	OTTHUMG00000086799	ENST00000291527.2:c.49A>G	21.37:g.43786556T>C	ENSP00000291527:p.Met17Val						p.M17V	NM_003225	NP_003216	P04155	TFF1_HUMAN			1	89	-			17						Missense_Mutation	SNP	ENST00000291527.2	37	c.49A>G	CCDS13685.1	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.548052	0.00140	.	.	ENSG00000160182	ENST00000291527	T	0.39787	1.06	3.89	-7.78	0.01223	.	2.911970	0.01278	N	0.009641	T	0.20659	0.0497	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17379	-1.0371	8	.	.	.	-0.1893	1.791	0.03051	0.4225:0.3353:0.0999:0.1423	.	17	P04155	TFF1_HUMAN	V	17	ENSP00000291527:M17V	.	M	-	1	0	TFF1	42659625	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-3.270000	0.00532	-3.598000	0.00135	-1.461000	0.01025	ATG		0.667	TFF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195361.1		NM_003225		20	46	0	0	0	0.00333	0	20	46		
ICOSLG	23308	broad.mit.edu	37	21	45656811	45656811	+	Silent	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr21:45656811C>A	ENST00000407780.3	-	3	472	c.345G>T	c.(343-345)gtG>gtT	p.V115V	ICOSLG_ENST00000400377.3_Intron|ICOSLG_ENST00000400379.3_Silent_p.V115V|ICOSLG_ENST00000344330.4_Silent_p.V115V	NM_001283052.1	NP_001269981.1	O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand	115	Ig-like V-type.				B cell activation (GO:0042113)|defense response (GO:0006952)|hyperosmotic response (GO:0006972)|positive regulation of activated T cell proliferation (GO:0042104)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		ATTGGCTCAACACCAGGCAGT	0.607																																						uc002zee.2		NaN																	0					0						c.(343-345)GTG>GTT		inducible T-cell co-stimulator ligand precursor							103.0	117.0	112.0					21																	45656811		2114	4244	6358	SO:0001819	synonymous_variant	23308				B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding	g.chr21:45656811C>A	AB014553	CCDS42952.1, CCDS63377.1, CCDS63379.1	21q22.3	2014-01-30		2005-01-12	ENSG00000160223	ENSG00000160223		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Endogenous ligands"""	17087	protein-coding gene	gene with protein product	"""B7-related protein 1"", ""B7 homologue 2"", ""B7 homolog 2"""	605717		ICOSL		9734811, 11007762	Standard	NM_001283050		Approved	KIAA0653, GL50, B7-H2, B7RP-1, B7H2, B7RP1, ICOS-L, CD275	uc002zee.3	O75144	OTTHUMG00000086920	ENST00000407780.3:c.345G>T	21.37:g.45656811C>A						ICOSLG_uc011afc.1_Silent_p.V25V|ICOSLG_uc002zef.2_Intron|ICOSLG_uc010gpp.1_Silent_p.V115V	p.V115V	NM_015259	NP_056074	O75144	ICOSL_HUMAN		Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)	3	479	-			115			Ig-like V-type.|Extracellular (Potential).		A8MUZ1|Q9HD18|Q9NRQ1	Silent	SNP	ENST00000407780.3	37	c.345G>T	CCDS42952.1																																																																																				0.607	ICOSLG-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000195838.1		NM_015259		57	90	1	0	7.75977e-34	0.00361	8.83008e-34	57	90		
MCM3AP	8888	broad.mit.edu	37	21	47700482	47700482	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr21:47700482G>A	ENST00000397708.1	-	4	1705	c.1451C>T	c.(1450-1452)gCa>gTa	p.A484V	MCM3AP_ENST00000291688.1_Missense_Mutation_p.A484V			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	484	DNA primase.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AGCCAGGGCTGCAGATGCCTG	0.403																																						uc002zir.1		NaN																	0				large_intestine(2)|lung(1)|ovary(1)|skin(1)	5						c.(1450-1452)GCA>GTA		minichromosome maintenance complex component 3							64.0	68.0	67.0					21																	47700482		2203	4300	6503	SO:0001583	missense	8888				DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding	g.chr21:47700482G>A	AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.1451C>T	21.37:g.47700482G>A	ENSP00000380820:p.Ala484Val						p.A484V	NM_003906	NP_003897	O60318	MCM3A_HUMAN			3	1487	-	Breast(49;0.112)		484					C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	ENST00000397708.1	37	c.1451C>T	CCDS13734.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.005149	0.93287	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.18810	2.19;2.19	5.2	5.2	0.72013	Nucleotide-binding, alpha-beta plait (1);	0.000000	0.85682	D	0.000000	T	0.46927	0.1418	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.43442	-0.9391	10	0.56958	D	0.05	-14.6762	16.5032	0.84262	0.0:0.0:1.0:0.0	.	484	O60318	MCM3A_HUMAN	V	484	ENSP00000380820:A484V;ENSP00000291688:A484V	ENSP00000291688:A484V	A	-	2	0	MCM3AP	46524910	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.077000	0.76814	2.435000	0.82474	0.591000	0.81541	GCA		0.403	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207254.1		NM_003906		17	30	0	0	0	0.002299	0	17	30		
DGCR8	54487	broad.mit.edu	37	22	20074109	20074109	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr22:20074109A>G	ENST00000351989.3	+	2	1052	c.623A>G	c.(622-624)aAt>aGt	p.N208S	DGCR8_ENST00000407755.1_Missense_Mutation_p.N208S|MIR3618_ENST00000580330.1_RNA|DGCR8_ENST00000383024.2_Missense_Mutation_p.N208S|MIR1306_ENST00000408439.1_RNA	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	208	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					TTTACTGACAATTTGGAGCTA	0.478																																						uc002zri.2		NaN																	0					0						c.(622-624)AAT>AGT		DiGeorge syndrome critical region gene 8							125.0	135.0	132.0					22																	20074109		2203	4300	6503	SO:0001583	missense	54487				primary miRNA processing	cytoplasm|cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding	g.chr22:20074109A>G	AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"""chromosome 22 open reading frame 12"", ""DiGeorge syndrome critical region gene 8"""	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.623A>G	22.37:g.20074109A>G	ENSP00000263209:p.Asn208Ser					DGCR8_uc010grz.2_Missense_Mutation_p.N208S|DGCR8_uc002zrj.2_5'Flank	p.N208S	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN			2	973	+	Colorectal(54;0.0993)		208			Necessary for nuclear localization and retention.|Necessary for interaction with NCL.		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP	ENST00000351989.3	37	c.623A>G	CCDS13773.1	.	.	.	.	.	.	.	.	.	.	A	12.49	1.954031	0.34471	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	T;T;T	0.35789	1.35;1.29;1.29	5.42	3.23	0.37069	.	0.176464	0.64402	D	0.000017	T	0.30885	0.0779	L	0.44542	1.39	0.49130	D	0.999751	B;B	0.28291	0.206;0.131	B;B	0.28011	0.085;0.027	T	0.06180	-1.0841	10	0.46703	T	0.11	-6.7853	12.1822	0.54218	0.7303:0.2697:0.0:0.0	.	208;208	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	S	208	ENSP00000263209:N208S;ENSP00000372488:N208S;ENSP00000384726:N208S	ENSP00000263209:N208S	N	+	2	0	DGCR8	18454109	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.685000	0.68204	0.452000	0.26830	0.402000	0.26972	AAT		0.478	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1				47	19	0	0	0	0.00361	0	47	19		
FOXRED2	80020	broad.mit.edu	37	22	36902136	36902136	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr22:36902136T>C	ENST00000397224.4	-	2	427	c.334A>G	c.(334-336)Aga>Gga	p.R112G	FOXRED2_ENST00000397223.4_Missense_Mutation_p.R112G|FOXRED2_ENST00000216187.6_Missense_Mutation_p.R112G	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	112					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	flavin adenine dinucleotide binding (GO:0050660)|glycoprotein binding (GO:0001948)|oxidoreductase activity (GO:0016491)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GAGTAGTGTCTGAAGAGCAGC	0.627																																						uc003apn.3		NaN																	0				lung(1)|kidney(1)	2						c.(334-336)AGA>GGA		FAD-dependent oxidoreductase domain containing 2							136.0	113.0	121.0					22																	36902136		2203	4300	6503	SO:0001583	missense	80020				ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	g.chr22:36902136T>C	BC027716	CCDS13929.1	22q12.3	2006-07-05			ENSG00000100350	ENSG00000100350			26264	protein-coding gene	gene with protein product		613777				12477932	Standard	NM_024955		Approved	FLJ23322	uc003app.4	Q8IWF2	OTTHUMG00000044614	ENST00000397224.4:c.334A>G	22.37:g.36902136T>C	ENSP00000380401:p.Arg112Gly					FOXRED2_uc003apo.3_Missense_Mutation_p.R112G|FOXRED2_uc003app.3_Missense_Mutation_p.R112G	p.R112G	NM_024955	NP_079231	Q8IWF2	FXRD2_HUMAN			1	442	-			112					B2RDI4|Q8N378|Q96BD1|Q9H5L5|Q9H6M8	Missense_Mutation	SNP	ENST00000397224.4	37	c.334A>G	CCDS13929.1	.	.	.	.	.	.	.	.	.	.	T	14.97	2.693606	0.48202	.	.	ENSG00000100350	ENST00000397224;ENST00000216187;ENST00000397223	T;T;T	0.21734	1.99;1.99;1.99	5.12	-0.251	0.13003	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.229551	0.44097	D	0.000500	T	0.14743	0.0356	L	0.31845	0.965	0.36659	D	0.877849	B	0.12013	0.005	B	0.16289	0.015	T	0.17715	-1.0360	10	0.25106	T	0.35	-7.5673	13.6411	0.62251	0.0:0.0:0.6364:0.3636	.	112	Q8IWF2	FXRD2_HUMAN	G	112	ENSP00000380401:R112G;ENSP00000216187:R112G;ENSP00000380400:R112G	ENSP00000216187:R112G	R	-	1	2	FOXRED2	35232082	0.949000	0.32298	0.989000	0.46669	0.981000	0.71138	0.750000	0.26334	0.241000	0.21283	0.459000	0.35465	AGA		0.627	FOXRED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104098.2		NM_024955		96	52	0	0	0	0.00361	0	96	52		
CSF2RB	1439	broad.mit.edu	37	22	37318275	37318275	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr22:37318275C>A	ENST00000403662.3	+	2	248	c.26C>A	c.(25-27)tCc>tAc	p.S9Y	CSF2RB_ENST00000536485.1_5'Flank|CSF2RB_ENST00000406230.1_Missense_Mutation_p.S9Y|CSF2RB_ENST00000262825.5_Missense_Mutation_p.S9Y			P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	9					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)|interleukin-5-mediated signaling pathway (GO:0038043)|respiratory gaseous exchange (GO:0007585)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)	granulocyte macrophage colony-stimulating factor receptor complex (GO:0030526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GGGCTGCTCTCCATGGCCCTG	0.672																																						uc003aqa.3		NaN																	0				skin(2)|pancreas(1)	3						c.(25-27)TCC>TAC		colony stimulating factor 2 receptor, beta	Sargramostim(DB00020)						18.0	17.0	17.0					22																	37318275		2200	4298	6498	SO:0001583	missense	1439				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	g.chr22:37318275C>A	M59941	CCDS13936.1	22q12.3	2014-09-09			ENSG00000100368	ENSG00000100368		"""CD molecules"", ""Fibronectin type III domain containing"""	2436	protein-coding gene	gene with protein product		138981		IL3RB		1833064, 1424804	Standard	NM_000395		Approved	IL5RB, CD131	uc003aqa.4	P32927	OTTHUMG00000150546	ENST00000403662.3:c.26C>A	22.37:g.37318275C>A	ENSP00000384053:p.Ser9Tyr					CSF2RB_uc003aqc.3_Missense_Mutation_p.S9Y	p.S9Y	NM_000395	NP_000386	P32927	IL3RB_HUMAN			2	243	+			9					Q5JZI1|Q6ICE0	Missense_Mutation	SNP	ENST00000403662.3	37	c.26C>A	CCDS13936.1	.	.	.	.	.	.	.	.	.	.	c	0.017	-1.493351	0.01009	.	.	ENSG00000100368	ENST00000403662;ENST00000539104;ENST00000262825;ENST00000406230	D;D;D	0.91295	-2.31;-2.82;-2.82	3.81	-7.62	0.01294	.	1.900700	0.03160	N	0.169190	T	0.69088	0.3072	N	0.02539	-0.55	0.09310	N	1	B;B	0.13594	0.008;0.001	B;B	0.06405	0.002;0.001	T	0.70357	-0.4894	10	0.02654	T	1	-2.6355	5.2981	0.15764	0.2581:0.1885:0.0:0.5534	.	9;9	P32927-2;P32927	.;IL3RB_HUMAN	Y	9	ENSP00000384053:S9Y;ENSP00000262825:S9Y;ENSP00000385271:S9Y	ENSP00000262825:S9Y	S	+	2	0	CSF2RB	35648221	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.988000	0.03739	-1.581000	0.01642	-3.970000	0.00014	TCC		0.672	CSF2RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318854.1		NM_000395		20	6	1	0	4.22769e-11	0.00632	4.5229e-11	20	6		
ARFGAP3	26286	broad.mit.edu	37	22	43218291	43218291	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr22:43218291G>C	ENST00000263245.5	-	9	1016	c.797C>G	c.(796-798)tCt>tGt	p.S266C	ARFGAP3_ENST00000437119.2_Missense_Mutation_p.S222C|ARFGAP3_ENST00000429508.2_Missense_Mutation_p.S194C	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	266					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|protein secretion (GO:0009306)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						TTCTTCTTTAGATACCACCTT	0.338																																					GBM(58;544 1030 21460 27159 48838)	uc003bdd.2		NaN																	0				breast(1)	1						c.(796-798)TCT>TGT		ADP-ribosylation factor GTPase activating							119.0	112.0	115.0					22																	43218291		2203	4300	6503	SO:0001583	missense	26286				intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding	g.chr22:43218291G>C	AK002083	CCDS14042.1, CCDS46722.1	22q13.2	2009-11-30	2002-08-20	2002-08-23	ENSG00000242247	ENSG00000242247		"""ADP-ribosylation factor GTPase activating proteins"""	661	protein-coding gene	gene with protein product		612439	"""ADP-ribosylation factor GTPase activating protein 1"""	ARFGAP1		10704287, 11172815	Standard	NM_014570		Approved		uc003bdd.2	Q9NP61	OTTHUMG00000150718	ENST00000263245.5:c.797C>G	22.37:g.43218291G>C	ENSP00000263245:p.Ser266Cys					ARFGAP3_uc010gzf.2_Missense_Mutation_p.S222C|ARFGAP3_uc011apu.1_Missense_Mutation_p.S194C	p.S266C	NM_014570	NP_055385	Q9NP61	ARFG3_HUMAN			9	1017	-			266					E9PB03|Q9BSC6|Q9H9J0|Q9NT10|Q9NUP5|Q9Y4V3|Q9Y4V4	Missense_Mutation	SNP	ENST00000263245.5	37	c.797C>G	CCDS14042.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.47|17.47	3.397173|3.397173	0.62177|0.62177	.|.	.|.	ENSG00000242247|ENSG00000242247	ENST00000453516|ENST00000263245;ENST00000429508;ENST00000437119	.|T;T;T	.|0.06449	.|3.45;3.3;3.43	5.21|5.21	4.13|4.13	0.48395|0.48395	.|.	.|0.618046	.|0.16428	.|N	.|0.214877	T|T	0.07413|0.07413	0.0187|0.0187	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	.|D;B;D	.|0.56968	.|0.978;0.309;0.957	.|P;B;B	.|0.49597	.|0.616;0.325;0.379	T|T	0.23119|0.23119	-1.0197|-1.0197	5|10	.|0.59425	.|D	.|0.04	-3.7081|-3.7081	10.6304|10.6304	0.45532|0.45532	0.0:0.0:0.7037:0.2963|0.0:0.0:0.7037:0.2963	.|.	.|194;222;266	.|C9JZR4;E9PB03;Q9NP61	.|.;.;ARFG3_HUMAN	M|C	112|266;194;222	.|ENSP00000263245:S266C;ENSP00000393959:S194C;ENSP00000388791:S222C	.|ENSP00000263245:S266C	I|S	-|-	3|2	3|0	ARFGAP3|ARFGAP3	41548235|41548235	0.011000|0.011000	0.17503|0.17503	0.300000|0.300000	0.25030|0.25030	0.473000|0.473000	0.32948|0.32948	1.650000|1.650000	0.37292|0.37292	2.416000|2.416000	0.81992|0.81992	0.563000|0.563000	0.77884|0.77884	ATC|TCT		0.338	ARFGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319747.2		NM_014570		19	12	0	0	0	0.001882	0	19	12		
EDEM1	9695	broad.mit.edu	37	3	5229970	5229970	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr3:5229970C>T	ENST00000256497.4	+	1	613	c.480C>T	c.(478-480)tgC>tgT	p.C160C	AC026202.3_ENST00000439325.1_RNA|EDEM1_ENST00000445686.1_5'Flank|AC026202.1_ENST00000600805.1_Missense_Mutation_p.A5T	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	160					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	calcium ion binding (GO:0005509)|misfolded protein binding (GO:0051787)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		CCATCCACTGCCGCGGCCGTG	0.736																																						uc003bqi.2		NaN																	0				ovary(2)|breast(1)	3						c.(478-480)TGC>TGT		ER degradation enhancer, mannosidase alpha-like							10.0	13.0	12.0					3																	5229970		2150	4244	6394	SO:0001819	synonymous_variant	9695				ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr3:5229970C>T	D86967	CCDS33686.1	3p26.1	2008-02-05			ENSG00000134109	ENSG00000134109			18967	protein-coding gene	gene with protein product		607673				12610306	Standard	NM_014674		Approved	KIAA0212, EDEM	uc003bqi.3	Q92611	OTTHUMG00000154896	ENST00000256497.4:c.480C>T	3.37:g.5229970C>T						EDEM1_uc011asz.1_5'UTR|EDEM1_uc003bqh.2_Silent_p.C160C	p.C160C	NM_014674	NP_055489	Q92611	EDEM1_HUMAN		Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)	1	612	+			160			Lumenal (Potential).		A8K9C8|B4DXP3	Silent	SNP	ENST00000256497.4	37	c.480C>T	CCDS33686.1																																																																																				0.736	EDEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337566.2		NM_014674		16	31	0	0	0	0.001882	0	16	31		
FBLN2	2199	broad.mit.edu	37	3	13659771	13659771	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr3:13659771G>T	ENST00000295760.7	+	6	1994	c.1925G>T	c.(1924-1926)cGc>cTc	p.R642L	FBLN2_ENST00000492059.1_Missense_Mutation_p.R642L|FBLN2_ENST00000535798.1_Missense_Mutation_p.R668L|FBLN2_ENST00000404922.3_Missense_Mutation_p.R642L	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	642	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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)			GACGATGGCCGCACTTGCCGC	0.617																																						uc011avb.1		NaN																	0				ovary(1)	1						c.(1924-1926)CGC>CTC		fibulin 2 isoform b precursor							60.0	61.0	61.0					3																	13659771		2022	4170	6192	SO:0001583	missense	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13659771G>T	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.1925G>T	3.37:g.13659771G>T	ENSP00000295760:p.Arg642Leu					FBLN2_uc011auz.1_Missense_Mutation_p.R668L|FBLN2_uc011ava.1_Missense_Mutation_p.R642L|FBLN2_uc011avc.1_Missense_Mutation_p.R642L	p.R642L	NM_001998	NP_001989	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		6	2050	+			642			EGF-like 1; calcium-binding.		B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	ENST00000295760.7	37	c.1925G>T	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	g	8.316	0.823113	0.16678	.	.	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	D;D;D;D	0.96940	-4.18;-4.18;-4.18;-4.18	5.2	0.923	0.19413	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.497530	0.21689	N	0.070609	D	0.93058	0.7790	M	0.80982	2.52	0.30378	N	0.782261	B;B;B	0.22276	0.039;0.067;0.054	B;B;B	0.22753	0.021;0.041;0.019	T	0.82285	-0.0533	10	0.18276	T	0.48	.	0.6024	0.00747	0.2789:0.1223:0.3514:0.2474	.	642;642;668	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	L	668;642;642;642	ENSP00000445705:R668L;ENSP00000384169:R642L;ENSP00000295760:R642L;ENSP00000420042:R642L	ENSP00000295760:R642L	R	+	2	0	FBLN2	13634772	0.979000	0.34478	0.995000	0.50966	0.932000	0.56968	1.434000	0.34958	0.231000	0.21079	-0.153000	0.13522	CGC		0.617	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3		NM_001004019		19	50	1	0	3.62473e-10	0.001882	3.83953e-10	19	50		
ANKRD28	23243	broad.mit.edu	37	3	15727600	15727600	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr3:15727600T>G	ENST00000399451.2	-	20	2355	c.1988A>C	c.(1987-1989)aAc>aCc	p.N663T	ANKRD28_ENST00000383777.1_Missense_Mutation_p.N696T|ANKRD28_ENST00000497037.1_5'UTR	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	663						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						TGTGTGCCCGTTGAGAACAGA	0.468																																						uc003caj.1		NaN																	0				breast(1)	1						c.(1987-1989)AAC>ACC		ankyrin repeat domain 28							108.0	96.0	100.0					3																	15727600		2008	4167	6175	SO:0001583	missense	23243					nucleoplasm	protein binding	g.chr3:15727600T>G	AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	29024	protein-coding gene	gene with protein product	"""phosphatase interactor targeting K protein"", ""protein phosphatase 6 ankyrin repeat subunit A"", ""protein phosphatase 1, regulatory subunit 65"""	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.1988A>C	3.37:g.15727600T>G	ENSP00000382379:p.Asn663Thr					ANKRD28_uc003cai.1_Missense_Mutation_p.N509T|ANKRD28_uc011avz.1_Missense_Mutation_p.N509T|ANKRD28_uc003cak.1_RNA|ANKRD28_uc011awa.1_RNA|ANKRD28_uc003cal.1_Missense_Mutation_p.N693T|ANKRD28_uc003cam.2_Missense_Mutation_p.N696T	p.N663T	NM_015199	NP_056014	O15084	ANR28_HUMAN			20	2131	-			663			ANK 19.		B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Missense_Mutation	SNP	ENST00000399451.2	37	c.1988A>C	CCDS46769.1	.	.	.	.	.	.	.	.	.	.	T	21.9	4.220866	0.79464	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	T;T;T	0.66638	-0.22;-0.22;-0.22	5.54	5.54	0.83059	Ankyrin repeat-containing domain (4);	0.085770	0.85682	D	0.000000	T	0.71668	0.3367	M	0.70275	2.135	0.49299	D	0.999772	P;P;B	0.48694	0.523;0.914;0.435	B;P;B	0.48952	0.228;0.596;0.437	T	0.69636	-0.5092	10	0.20046	T	0.44	.	15.6646	0.77217	0.0:0.0:0.0:1.0	.	696;693;663	O15084-1;O15084-4;O15084	.;.;ANR28_HUMAN	T	663;696;663	ENSP00000382379:N663T;ENSP00000373287:N696T;ENSP00000397341:N663T	ENSP00000373287:N696T	N	-	2	0	ANKRD28	15702604	1.000000	0.71417	0.980000	0.43619	0.995000	0.86356	4.542000	0.60677	2.098000	0.63641	0.482000	0.46254	AAC		0.468	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339758.1		NM_015199		5	12	0	0	0	0.001168	0	5	12		
ZNF385D	79750	broad.mit.edu	37	3	21478519	21478519	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr3:21478519A>T	ENST00000281523.2	-	5	1134	c.616T>A	c.(616-618)Tgt>Agt	p.C206S	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	206						nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						CATAGCGAACAGTAAAGAAGC	0.483																																						uc003cce.2		NaN																	0				large_intestine(2)|skin(2)|ovary(1)	5						c.(616-618)TGT>AGT		zinc finger protein 385D							184.0	152.0	163.0					3																	21478519		2203	4300	6503	SO:0001583	missense	79750					nucleus	nucleic acid binding|zinc ion binding	g.chr3:21478519A>T	BC007212	CCDS2636.1	3p24.3	2012-10-05	2007-12-06	2007-12-06	ENSG00000151789	ENSG00000151789			26191	protein-coding gene	gene with protein product			"""zinc finger protein 659"""	ZNF659		12477932	Standard	NM_024697		Approved	FLJ22419	uc003cce.3	Q9H6B1	OTTHUMG00000130484	ENST00000281523.2:c.616T>A	3.37:g.21478519A>T	ENSP00000281523:p.Cys206Ser					ZNF385D_uc010hfb.1_RNA	p.C206S	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN			5	1024	-			206			Matrin-type 2.			Missense_Mutation	SNP	ENST00000281523.2	37	c.616T>A	CCDS2636.1	.	.	.	.	.	.	.	.	.	.	A	34	5.320167	0.95682	.	.	ENSG00000151789	ENST00000281523	D	0.98947	-5.26	6.09	6.09	0.99107	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);Zinc finger, C2H2 (1);	0.000000	0.85682	D	0.000000	D	0.99111	0.9694	M	0.81802	2.56	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	D	0.99797	1.1034	10	0.87932	D	0	-13.9867	16.6542	0.85224	1.0:0.0:0.0:0.0	.	206	Q9H6B1	Z385D_HUMAN	S	206	ENSP00000281523:C206S	ENSP00000281523:C206S	C	-	1	0	ZNF385D	21453523	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.246000	0.95438	2.331000	0.79229	0.533000	0.62120	TGT		0.483	ZNF385D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252884.1		NM_024697		14	44	0	0	0	0.007413	0	14	44		
SCAP	22937	broad.mit.edu	37	3	47484415	47484415	+	Silent	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr3:47484415T>C	ENST00000265565.5	-	2	481	c.69A>G	c.(67-69)gcA>gcG	p.A23A	SCAP_ENST00000545718.1_5'UTR|SCAP_ENST00000441517.2_5'UTR	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	23					aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		TGGGATAGGATGCACAGAGGA	0.542																																					Pancreas(149;978 1908 29304 37806 46700)	uc003crh.1		NaN																	0				ovary(1)	1						c.(67-69)GCA>GCG		SREBF chaperone protein							190.0	150.0	164.0					3																	47484415		2203	4300	6503	SO:0001819	synonymous_variant	22937				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding	g.chr3:47484415T>C	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.69A>G	3.37:g.47484415T>C						SCAP_uc011baz.1_5'UTR|SCAP_uc003crg.2_5'UTR	p.A23A	NM_012235	NP_036367	Q12770	SCAP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)	2	324	-			23			Helical; Name=1; (Potential).		Q8N2E0|Q8WUA1	Silent	SNP	ENST00000265565.5	37	c.69A>G	CCDS2755.2																																																																																				0.542	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2		NM_012235		5	18	0	0	0	0.001168	0	5	18		
RBM5	10181	broad.mit.edu	37	3	50144929	50144929	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr3:50144929C>T	ENST00000347869.3	+	12	1143	c.968C>T	c.(967-969)tCa>tTa	p.S323L	RBM5_ENST00000441812.2_3'UTR	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5	323	Required for interaction with U2AF2.				apoptotic process (GO:0006915)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTGGTCCTCTCAGATGGTAAC	0.478																																						uc003cyg.2		NaN																	0				lung(1)	1						c.(967-969)TCA>TTA		RNA binding motif protein 5							168.0	147.0	154.0					3																	50144929		2203	4300	6503	SO:0001583	missense	10181				apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding	g.chr3:50144929C>T	U23946	CCDS2810.1	3p21.3	2013-08-15			ENSG00000003756	ENSG00000003756		"""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9902	protein-coding gene	gene with protein product		606884				10352938, 23935508	Standard	NM_005778		Approved	LUCA15, H37	uc003cyg.3	P52756	OTTHUMG00000156785	ENST00000347869.3:c.968C>T	3.37:g.50144929C>T	ENSP00000343054:p.Ser323Leu					RBM5_uc011bdj.1_Missense_Mutation_p.S267L|RBM5_uc011bdk.1_Missense_Mutation_p.S151L	p.S323L	NM_005778	NP_005769	P52756	RBM5_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	12	1116	+			323			Required for interaction with U2AF2.		B2RA45|B4DM16|B4DMF9|B4DZ63|Q93021|Q9BU14|Q9HDA6|Q9UKY8|Q9UL24	Missense_Mutation	SNP	ENST00000347869.3	37	c.968C>T	CCDS2810.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.236370	0.79800	.	.	ENSG00000003756	ENST00000347869;ENST00000543047;ENST00000544851	T	0.15372	2.43	5.9	5.9	0.94986	.	0.101193	0.64402	D	0.000002	T	0.14527	0.0351	N	0.19112	0.55	0.80722	D	1	B;B	0.11235	0.004;0.004	B;B	0.13407	0.009;0.009	T	0.10730	-1.0617	10	0.26408	T	0.33	-5.3137	20.27	0.98469	0.0:1.0:0.0:0.0	.	13;323	Q59HE6;P52756	.;RBM5_HUMAN	L	323;322;13	ENSP00000343054:S323L	ENSP00000343054:S323L	S	+	2	0	RBM5	50119933	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.638000	0.67861	2.790000	0.95986	0.650000	0.86243	TCA		0.478	RBM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345797.3		NM_005778		9	21	0	0	0	0.000978	0	9	21		
GRAMD1C	54762	broad.mit.edu	37	3	113563350	113563350	+	Splice_Site	SNP	G	G	A	rs562411629		TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr3:113563350G>A	ENST00000358160.4	+	2	520	c.28G>A	c.(28-30)Gtg>Atg	p.V10M	GRAMD1C_ENST00000452134.2_5'UTR|GRAMD1C_ENST00000479212.1_3'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	10						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						TTGTTTCCAGGTGATGAATGA	0.323													G|||	1	0.000199681	0.0	0.0	5008	,	,		14346	0.0		0.001	False		,,,				2504	0.0					uc003eaq.3		NaN																	0				ovary(2)|skin(1)	3						c.(28-30)GTG>ATG		GRAM domain containing 1C							99.0	103.0	102.0					3																	113563350		2203	4300	6503	SO:0001630	splice_region_variant	54762					integral to membrane		g.chr3:113563350G>A		CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.28-1G>A	3.37:g.113563350G>A						GRAMD1C_uc011bil.1_RNA|GRAMD1C_uc011bim.1_RNA	p.V10M	NM_017577	NP_060047	Q8IYS0	GRM1C_HUMAN			2	104	+			10					A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Missense_Mutation	SNP	ENST00000358160.4	37	c.28G>A	CCDS33826.1	.	.	.	.	.	.	.	.	.	.	G	10.19	1.282391	0.23392	.	.	ENSG00000178075	ENST00000358160	T	0.35421	1.31	5.58	2.74	0.32292	.	7.041530	0.00616	N	0.000434	T	0.29061	0.0722	N	0.24115	0.695	0.50632	D	0.999885	B	0.29716	0.255	B	0.32465	0.146	T	0.06789	-1.0807	10	0.41790	T	0.15	.	5.161	0.15060	0.1882:0.171:0.6408:0.0	.	10	Q8IYS0	GRM1C_HUMAN	M	10	ENSP00000350881:V10M	ENSP00000350881:V10M	V	+	1	0	GRAMD1C	115046040	0.897000	0.30589	0.026000	0.17262	0.009000	0.06853	1.104000	0.31074	0.283000	0.22279	0.655000	0.94253	GTG		0.323	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354733.1		NM_017577	Missense_Mutation	9	20	0	0	0	0.006214	0	9	20		
ITGB5	3693	broad.mit.edu	37	3	124540305	124540305	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr3:124540305C>T	ENST00000296181.4	-	6	1093	c.797G>A	c.(796-798)cGa>cAa	p.R266Q		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	266	VWFA.				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)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|epithelial cell-cell adhesion (GO:0090136)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alphav-beta5 complex (GO:0034684)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		TGCATCCTTTCGCCAGCCAAT	0.567																																						uc003eho.2		NaN																	0				skin(2)	2						c.(796-798)CGA>CAA		integrin, beta 5 precursor							122.0	97.0	106.0					3																	124540305		2203	4300	6503	SO:0001583	missense	3693				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity	g.chr3:124540305C>T	J05633	CCDS3030.1	3q21.2	2010-03-23			ENSG00000082781	ENSG00000082781		"""Integrins"""	6160	protein-coding gene	gene with protein product		147561				2211615	Standard	NM_002213		Approved		uc003eho.3	P18084	OTTHUMG00000159432	ENST00000296181.4:c.797G>A	3.37:g.124540305C>T	ENSP00000296181:p.Arg266Gln						p.R266Q	NM_002213	NP_002204	P18084	ITB5_HUMAN		GBM - Glioblastoma multiforme(114;0.163)	6	1094	-			266			VWFA.|Extracellular (Potential).		B0LPF8|B2RD70	Missense_Mutation	SNP	ENST00000296181.4	37	c.797G>A	CCDS3030.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.597827|5.597827	0.96602|0.96602	.|.	.|.	ENSG00000082781|ENSG00000082781	ENST00000481591|ENST00000296181	.|D	.|0.98717	.|-5.09	5.52|5.52	5.52|5.52	0.82312|0.82312	.|Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99260|0.99260	0.9742|0.9742	M|M	0.87097|0.87097	2.86|2.86	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	D|D	0.99457|0.99457	1.0942|1.0942	5|10	.|0.87932	.|D	.|0	.|.	19.6296|19.6296	0.95694|0.95694	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|266	.|P18084	.|ITB5_HUMAN	K|Q	1|266	.|ENSP00000296181:R266Q	.|ENSP00000296181:R266Q	E|R	-|-	1|2	0|0	ITGB5|ITGB5	126022995|126022995	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.930000|0.930000	0.56654|0.56654	7.625000|7.625000	0.83145|0.83145	2.873000|2.873000	0.98535|0.98535	0.563000|0.563000	0.77884|0.77884	GAA|CGA		0.567	ITGB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355286.3		NM_002213		31	149	0	0	0	0.003755	0	31	149		
COL6A6	131873	broad.mit.edu	37	3	130381085	130381085	+	Silent	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr3:130381085C>G	ENST00000358511.6	+	34	6466	c.6435C>G	c.(6433-6435)ggC>ggG	p.G2145G	COL6A6_ENST00000453409.2_Silent_p.G2145G	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	2145	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TCCAGCTTGGCCGAATTCATA	0.448																																						uc010htl.2		NaN																	0				ovary(6)|central_nervous_system(1)|pancreas(1)	8						c.(6433-6435)GGC>GGG		collagen type VI alpha 6 precursor							151.0	154.0	153.0					3																	130381085		1935	4141	6076	SO:0001819	synonymous_variant	131873				axon guidance|cell adhesion	collagen		g.chr3:130381085C>G	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.6435C>G	3.37:g.130381085C>G						COL6A6_uc003eni.3_Silent_p.G244G	p.G2145G	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN			34	6466	+			2145			VWFA 9.|Nonhelical region.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Silent	SNP	ENST00000358511.6	37	c.6435C>G	CCDS46911.1																																																																																				0.448	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5		NM_001102608		18	116	0	0	0	0.005443	0	18	116		
NPHP3	27031	broad.mit.edu	37	3	132408036	132408036	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr3:132408036T>A	ENST00000337331.5	-	20	2851	c.2765A>T	c.(2764-2766)tAc>tTc	p.Y922F	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	922					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGAATCGAAGTATTCTGTTGC	0.408																																						uc003epe.1		NaN																	0				ovary(1)	1						c.(2764-2766)TAC>TTC		nephrocystin 3							126.0	117.0	120.0					3																	132408036		2203	4300	6503	SO:0001583	missense	27031				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	g.chr3:132408036T>A	AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"""Tetratricopeptide (TTC) repeat domain containing"""	7907	protein-coding gene	gene with protein product	"""nephrocystin-3"", ""Meckel syndrome, type 7"", ""cilia and flagella associated protein 31"""	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.2765A>T	3.37:g.132408036T>A	ENSP00000338766:p.Tyr922Phe					NPHP3_uc003epd.1_Missense_Mutation_p.Y164F	p.Y922F	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN			20	2842	-			922			TPR 3.		Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Missense_Mutation	SNP	ENST00000337331.5	37	c.2765A>T	CCDS3078.1	.	.	.	.	.	.	.	.	.	.	T	34	5.308529	0.95629	.	.	ENSG00000113971	ENST00000393144;ENST00000337331	D	0.92858	-3.12	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.93861	0.8036	L	0.36672	1.1	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.94278	0.7517	10	0.56958	D	0.05	-18.4724	16.4237	0.83790	0.0:0.0:0.0:1.0	.	922	Q7Z494	NPHP3_HUMAN	F	202;922	ENSP00000338766:Y922F	ENSP00000338766:Y922F	Y	-	2	0	NPHP3	133890726	1.000000	0.71417	0.991000	0.47740	0.947000	0.59692	7.503000	0.81632	2.279000	0.76181	0.533000	0.62120	TAC		0.408	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2		NM_153240		38	30	0	0	0	0.002522	0	38	30		
CLSTN2	64084	broad.mit.edu	37	3	140277676	140277676	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr3:140277676C>G	ENST00000458420.3	+	12	2208	c.2018C>G	c.(2017-2019)gCc>gGc	p.A673G		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	673					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						AAAACCGAAGCCCCCGGGGAC	0.502										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	uc003etn.2		NaN																	0				skin(3)|large_intestine(2)|pancreas(1)|central_nervous_system(1)	7						c.(2017-2019)GCC>GGC		calsyntenin 2 precursor							42.0	45.0	44.0					3																	140277676		2203	4300	6503	SO:0001583	missense	64084				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr3:140277676C>G	AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.2018C>G	3.37:g.140277676C>G	ENSP00000402460:p.Ala673Gly	HNSCC(16;0.037)					p.A673G	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN			12	2208	+			673			Extracellular (Potential).		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	ENST00000458420.3	37	c.2018C>G	CCDS3112.1	.	.	.	.	.	.	.	.	.	.	C	10.78	1.445816	0.25987	.	.	ENSG00000158258	ENST00000458420	T	0.31510	1.49	5.41	3.51	0.40186	.	1.276180	0.05355	N	0.532655	T	0.22126	0.0533	N	0.25647	0.755	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20405	-1.0276	9	.	.	.	-5.6119	6.1269	0.20184	0.1845:0.7215:0.0:0.094	.	673	Q9H4D0	CSTN2_HUMAN	G	673	ENSP00000402460:A673G	.	A	+	2	0	CLSTN2	141760366	0.331000	0.24713	0.019000	0.16419	0.033000	0.12548	1.962000	0.40442	1.291000	0.44653	0.650000	0.86243	GCC		0.502	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359393.3		NM_022131		17	26	0	0	0	0.008871	0	17	26		
HPS3	84343	broad.mit.edu	37	3	148889891	148889891	+	Nonsense_Mutation	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr3:148889891C>G	ENST00000296051.2	+	17	3037	c.2897C>G	c.(2896-2898)tCa>tGa	p.S966*	HPS3_ENST00000460120.1_Nonsense_Mutation_p.S801*	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	966					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GAAACATTGTCAATTGTTGCT	0.358									Hermansky-Pudlak syndrome																													uc003ewu.1		NaN																	0				ovary(5)|large_intestine(1)	6						c.(2896-2898)TCA>TGA		Hermansky-Pudlak syndrome 3 protein							99.0	96.0	97.0					3																	148889891		2202	4299	6501	SO:0001587	stop_gained	84343	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8		cytoplasm		g.chr3:148889891C>G	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.2897C>G	3.37:g.148889891C>G	ENSP00000296051:p.Ser966*					CP_uc011bnr.1_Intron|HPS3_uc011bnq.1_Nonsense_Mutation_p.S801*|HPS3_uc003ewv.1_RNA	p.S966*	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		17	3037	+			966					A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Nonsense_Mutation	SNP	ENST00000296051.2	37	c.2897C>G	CCDS3140.1	.	.	.	.	.	.	.	.	.	.	C	39	7.596947	0.98381	.	.	ENSG00000163755	ENST00000296051;ENST00000460120	.	.	.	5.94	5.94	0.96194	.	0.342564	0.31872	N	0.006925	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	-16.2028	15.1139	0.72384	0.1415:0.8585:0.0:0.0	.	.	.	.	X	966;801	.	ENSP00000296051:S966X	S	+	2	0	HPS3	150372581	0.997000	0.39634	0.790000	0.31976	0.619000	0.37552	3.550000	0.53691	2.812000	0.96745	0.557000	0.71058	TCA		0.358	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356151.1		NM_032383		22	14	0	0	0	0.00333	0	22	14		
FNDC3B	64778	broad.mit.edu	37	3	172064198	172064198	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr3:172064198A>T	ENST00000336824.4	+	20	2431	c.2332A>T	c.(2332-2334)Aca>Tca	p.T778S	FNDC3B_ENST00000415807.2_Missense_Mutation_p.T778S|FNDC3B_ENST00000416957.1_Missense_Mutation_p.T778S	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	778	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		TATTTCTTGTACACCTGATGG	0.423																																						uc003fhy.2		NaN																	0				ovary(2)|breast(1)	3						c.(2332-2334)ACA>TCA		fibronectin type III domain containing 3B							237.0	209.0	219.0					3																	172064198		2203	4300	6503	SO:0001583	missense	64778					endoplasmic reticulum|integral to membrane		g.chr3:172064198A>T	AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.2332A>T	3.37:g.172064198A>T	ENSP00000338523:p.Thr778Ser					FNDC3B_uc003fhz.3_Missense_Mutation_p.T778S	p.T778S	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)	20	2504	+	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		778			Fibronectin type-III 6.		B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Missense_Mutation	SNP	ENST00000336824.4	37	c.2332A>T	CCDS3217.1	.	.	.	.	.	.	.	.	.	.	A	5.961	0.361220	0.11296	.	.	ENSG00000075420	ENST00000415807;ENST00000336824;ENST00000416957	T;T;T	0.54279	0.58;0.58;0.58	6.02	2.41	0.29592	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.467081	0.25503	N	0.030240	T	0.30603	0.0770	N	0.21097	0.63	0.09310	N	1	B	0.10296	0.003	B	0.19666	0.026	T	0.07309	-1.0779	10	0.21540	T	0.41	-8.5305	3.0358	0.06122	0.6076:0.1672:0.1138:0.1114	.	778	Q53EP0	FND3B_HUMAN	S	778	ENSP00000411242:T778S;ENSP00000338523:T778S;ENSP00000389094:T778S	ENSP00000338523:T778S	T	+	1	0	FNDC3B	173546892	0.140000	0.22579	0.028000	0.17463	0.001000	0.01503	2.548000	0.45794	1.064000	0.40671	0.528000	0.53228	ACA		0.423	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345618.2		NM_022763		17	68	0	0	0	0.00278	0	17	68		
TNFSF10	8743	broad.mit.edu	37	3	172227013	172227013	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr3:172227013A>G	ENST00000241261.2	-	4	534	c.412T>C	c.(412-414)Tct>Cct	p.S138P	TNFSF10_ENST00000420541.2_Intron	NM_003810.3	NP_003801.1	P50591	TNF10_HUMAN	tumor necrosis factor (ligand) superfamily, member 10	138					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|male gonad development (GO:0008584)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to insulin (GO:0032868)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			TTACTTGGAGAAGACAATGTG	0.358																																						uc003fid.2		NaN																	0				skin(4)|lung(1)	5						c.(412-414)TCT>CCT		tumor necrosis factor (ligand) superfamily,							96.0	92.0	94.0					3																	172227013		2203	4300	6503	SO:0001583	missense	8743				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding	g.chr3:172227013A>G	U37518	CCDS3219.1, CCDS54680.1	3q26	2006-09-20			ENSG00000121858	ENSG00000121858		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11925	protein-coding gene	gene with protein product		603598				8777713, 8663110	Standard	NM_003810		Approved	TRAIL, Apo-2L, TL2, CD253	uc003fid.3	P50591	OTTHUMG00000156917	ENST00000241261.2:c.412T>C	3.37:g.172227013A>G	ENSP00000241261:p.Ser138Pro					TNFSF10_uc003fie.2_Intron	p.S138P	NM_003810	NP_003801	P50591	TNF10_HUMAN	Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)		4	507	-	Ovarian(172;0.00197)|Breast(254;0.158)		138			Extracellular (Potential).		A1Y9B3	Missense_Mutation	SNP	ENST00000241261.2	37	c.412T>C	CCDS3219.1	.	.	.	.	.	.	.	.	.	.	A	4.681	0.126615	0.08931	.	.	ENSG00000121858	ENST00000241261	D	0.87334	-2.24	4.71	-9.41	0.00613	Tumour necrosis factor (1);Tumour necrosis factor-like (2);	3.077800	0.00559	N	0.000268	T	0.72366	0.3451	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.61412	-0.7068	10	0.28530	T	0.3	6.4421	2.2034	0.03929	0.2104:0.1161:0.1799:0.4936	.	138	P50591	TNF10_HUMAN	P	138	ENSP00000241261:S138P	ENSP00000241261:S138P	S	-	1	0	TNFSF10	173709707	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.648000	0.00404	-2.624000	0.00438	-1.441000	0.01070	TCT		0.358	TNFSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346601.1				5	28	0	0	0	0.001984	0	5	28		
LEPREL1	55214	broad.mit.edu	37	3	189690704	189690704	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr3:189690704T>C	ENST00000319332.5	-	11	1855	c.1658A>G	c.(1657-1659)tAt>tGt	p.Y553C	LEPREL1_ENST00000427335.2_Missense_Mutation_p.Y372C	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	553					collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|peptidyl-proline hydroxylation (GO:0019511)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	ATAGGAAAAATACAGAGTTGA	0.433																																						uc011bsk.1		NaN																	0				breast(3)|ovary(1)	4						c.(1657-1659)TAT>TGT		leprecan-like 1 isoform a	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						112.0	106.0	108.0					3																	189690704		2203	4300	6503	SO:0001583	missense	55214				collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	g.chr3:189690704T>C		CCDS3294.1, CCDS46981.1	3q29	2014-01-28			ENSG00000090530	ENSG00000090530	1.14.11.7		19317	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 2"""	610341				15063763, 21885030	Standard	NM_018192		Approved	FLJ10718, MLAT4, P3H2	uc011bsk.2	Q8IVL5	OTTHUMG00000156312	ENST00000319332.5:c.1658A>G	3.37:g.189690704T>C	ENSP00000316881:p.Tyr553Cys					LEPREL1_uc003fsg.2_Missense_Mutation_p.Y372C	p.Y553C	NM_018192	NP_060662	Q8IVL5	P3H2_HUMAN	Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	11	2046	-	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		553					B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Missense_Mutation	SNP	ENST00000319332.5	37	c.1658A>G	CCDS3294.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.386255	0.82902	.	.	ENSG00000090530	ENST00000319332;ENST00000427335	T;T	0.42513	0.97;0.97	5.71	5.71	0.89125	Prolyl 4-hydroxylase, alpha subunit (1);	0.052081	0.85682	D	0.000000	T	0.64907	0.2641	M	0.78637	2.42	0.58432	D	0.999998	D	0.76494	0.999	D	0.70935	0.971	T	0.67277	-0.5711	9	.	.	.	-15.5193	15.1854	0.72996	0.0:0.0:0.0:1.0	.	553	Q8IVL5	P3H2_HUMAN	C	553;372	ENSP00000316881:Y553C;ENSP00000408947:Y372C	.	Y	-	2	0	LEPREL1	191173398	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.698000	0.84413	2.171000	0.68590	0.528000	0.53228	TAT		0.433	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343855.1		NM_018192		31	21	0	0	0	0.004289	0	31	21		
MUC20	200958	broad.mit.edu	37	3	195453217	195453217	+	Silent	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr3:195453217C>G	ENST00000447234.2	+	2	1869	c.1743C>G	c.(1741-1743)ctC>ctG	p.L581L	MUC20_ENST00000436408.1_Silent_p.L581L|MUC20_ENST00000320736.6_Silent_p.L410L|MUC20_ENST00000445522.2_Silent_p.L546L	NM_001282506.1	NP_001269435.1	Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	581	Involved in oligomerization.				activation of MAPK activity (GO:0000187)|cellular protein metabolic process (GO:0044267)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein homooligomerization (GO:0051260)	basal plasma membrane (GO:0009925)|cell projection (GO:0042995)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		AAGCCGCCCTCAAGAACTTCA	0.597																																						uc010hzo.2		NaN																	0					0						c.(1228-1230)CTC>CTG		mucin 20 isoform L							62.0	59.0	60.0					3																	195453217		2034	4186	6220	SO:0001819	synonymous_variant	200958				protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane		g.chr3:195453217C>G	AB037780	CCDS63877.1	3q29	2008-08-07	2006-03-14		ENSG00000176945	ENSG00000176945		"""Mucins"""	23282	protein-coding gene	gene with protein product		610360				14565953	Standard	NM_001282506		Approved	FLJ14408, KIAA1359	uc010hzo.3	Q8N307	OTTHUMG00000155823	ENST00000447234.2:c.1743C>G	3.37:g.195453217C>G						MUC20_uc010hzp.2_Silent_p.L375L|MUC20_uc011bte.1_RNA	p.L410L	NM_152673	NP_689886	Q8N307	MUC20_HUMAN	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)	3	1356	+	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	581			Involved in oligomerization.		Q6UX97|Q76I83|Q76I85|Q86ST8|Q8NBY6|Q96KA1|Q9P2I8	Silent	SNP	ENST00000447234.2	37	c.1230C>G																																																																																					0.597	MUC20-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000341835.1		NM_152673		14	105	0	0	0	0.004007	0	14	105		
MUC4	4585	broad.mit.edu	37	3	195512568	195512568	+	Silent	SNP	T	T	C	rs199625793|rs71254296		TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr3:195512568T>C	ENST00000463781.3	-	2	6342	c.5883A>G	c.(5881-5883)gtA>gtG	p.V1961V	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.V1961V|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.P1952_T1967delPLPVTDASSVPTGHAT(4)|p.V1961V(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GACCTGTGGGTACTGAGGAAG	0.602																																						uc011bto.1		NaN																	5	Deletion - In frame(4)|Substitution - coding silent(1)		stomach(4)|endometrium(1)		0						c.(5881-5883)GTA>GTG		mucin 4 isoform a							55.0	43.0	46.0					3																	195512568		692	1591	2283	SO:0001819	synonymous_variant	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195512568T>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.5883A>G	3.37:g.195512568T>C						MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron	p.V1961V	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	6343	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	c.5883A>G	CCDS54700.1																																																																																				0.602	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406		2	6	0	0	0	0.004672	0	2	6		
HGFAC	3083	broad.mit.edu	37	4	3449359	3449359	+	Splice_Site	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr4:3449359G>A	ENST00000382774.3	+	11	1610		c.e11+1		HGFAC_ENST00000511533.1_Splice_Site	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator						proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|rough endoplasmic reticulum (GO:0005791)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CACGACCTCGGTGAGCTCCGG	0.652																																						uc003ghc.2		NaN																	0				central_nervous_system(2)	2						c.e11+1		HGF activator preproprotein							154.0	139.0	144.0					4																	3449359		2203	4300	6503	SO:0001630	splice_region_variant	3083				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	g.chr4:3449359G>A	D14012	CCDS3369.1, CCDS75098.1	4p16	2008-02-07			ENSG00000109758	ENSG00000109758	3.4.21.-		4894	protein-coding gene	gene with protein product		604552				7683665, 8226803	Standard	XM_005247966		Approved	HGFAP, HGFA	uc003ghc.3	Q04756	OTTHUMG00000090281	ENST00000382774.3:c.1495+1G>A	4.37:g.3449359G>A						HGFAC_uc010icw.2_Splice_Site_p.V506_splice	p.V499_splice	NM_001528	NP_001519	Q04756	HGFA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	11	1498	+								Q14726|Q2M1W7|Q53X47	Splice_Site	SNP	ENST00000382774.3	37	c.1495_splice	CCDS3369.1	.	.	.	.	.	.	.	.	.	.	G	11.44	1.638565	0.29157	.	.	ENSG00000109758	ENST00000382774;ENST00000511533	.	.	.	3.46	3.46	0.39613	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0	0.64427	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HGFAC	3419157	1.000000	0.71417	0.730000	0.30809	0.058000	0.15608	6.623000	0.74238	1.951000	0.56629	0.462000	0.41574	.		0.652	HGFAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206607.3			Intron	216	288	0	0	0	0.00361	0	216	288		
FBXL5	26234	broad.mit.edu	37	4	15626988	15626988	+	Silent	SNP	A	A	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr4:15626988A>C	ENST00000341285.3	-	9	1861	c.1737T>G	c.(1735-1737)ccT>ccG	p.P579P	FBXL5_ENST00000412094.2_Silent_p.P562P|FBXL5_ENST00000382358.4_Silent_p.P453P	NM_001193534.1|NM_001193535.1|NM_012161.3	NP_001180463.1|NP_001180464.1|NP_036293.1	Q9UKA1	FBXL5_HUMAN	F-box and leucine-rich repeat protein 5	579					iron ion homeostasis (GO:0055072)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	iron ion binding (GO:0005506)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						CTTTTCCCCTAGGCAATCTAG	0.398																																						uc003goc.1		NaN																	0					0						c.(1735-1737)CCT>CCG		F-box and leucine-rich repeat protein 5 isoform							91.0	80.0	83.0					4																	15626988		2203	4300	6503	SO:0001819	synonymous_variant	26234				iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity	g.chr4:15626988A>C	AF174591	CCDS3415.1, CCDS54745.1	4p15.33	2011-06-09			ENSG00000118564	ENSG00000118564		"""F-boxes / Leucine-rich repeats"""	13602	protein-coding gene	gene with protein product		605655				10531035	Standard	NM_012161		Approved	FBL4, FBL5, FLR1	uc003goc.2	Q9UKA1	OTTHUMG00000097097	ENST00000341285.3:c.1737T>G	4.37:g.15626988A>C						FBXL5_uc010idw.1_Silent_p.P492P|FBXL5_uc003gob.1_Silent_p.P453P|FBXL5_uc010idx.1_Silent_p.P578P|FBXL5_uc003god.1_Silent_p.P562P|FBXL5_uc010idy.1_Silent_p.P579P	p.P579P	NM_012161	NP_036293	Q9UKA1	FBXL5_HUMAN			9	1840	-			579			LRR 5.		A8MSK4|B4DIB5|Q4W5A8|Q8NHP3|Q9NXN2|Q9P0I0|Q9P0X5|Q9UJT7|Q9UKC8	Silent	SNP	ENST00000341285.3	37	c.1737T>G	CCDS3415.1	.	.	.	.	.	.	.	.	.	.	A	8.034	0.762290	0.15914	.	.	ENSG00000118564	ENST00000513163	.	.	.	5.72	-1.09	0.09904	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-12.5145	1.2614	0.02002	0.3569:0.1061:0.3156:0.2213	.	.	.	.	E	500	.	.	X	-	1	0	FBXL5	15236086	0.044000	0.20184	0.010000	0.14722	0.992000	0.81027	0.224000	0.17738	-0.386000	0.07821	0.460000	0.39030	TAG		0.398	FBXL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214235.2				8	10	0	0	0	0.006214	0	8	10		
ARAP2	116984	broad.mit.edu	37	4	36231078	36231078	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr4:36231078T>C	ENST00000303965.4	-	2	520	c.31A>G	c.(31-33)Ata>Gta	p.I11V		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	11	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						AAATCTTTTATATCCACATTT	0.383																																						uc003gsq.1		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(31-33)ATA>GTA		ArfGAP with RhoGAP domain, ankyrin repeat and PH							72.0	77.0	75.0					4																	36231078		2188	4282	6470	SO:0001583	missense	116984				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	g.chr4:36231078T>C	AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.31A>G	4.37:g.36231078T>C	ENSP00000302895:p.Ile11Val					ARAP2_uc003gsr.1_Missense_Mutation_p.I11V	p.I11V	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN			2	369	-			11			SAM.		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	ENST00000303965.4	37	c.31A>G	CCDS3441.1	.	.	.	.	.	.	.	.	.	.	T	13.30	2.196337	0.38806	.	.	ENSG00000047365	ENST00000303965;ENST00000506189	T;T	0.25414	1.8;1.8	5.58	2.96	0.34315	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.368768	0.27289	N	0.020051	T	0.18383	0.0441	N	0.25647	0.755	0.09310	N	0.999995	P	0.37061	0.58	B	0.41723	0.365	T	0.08994	-1.0695	10	0.56958	D	0.05	.	5.2305	0.15420	0.1098:0.069:0.1269:0.6943	.	11	Q8WZ64	ARAP2_HUMAN	V	11	ENSP00000302895:I11V;ENSP00000422731:I11V	ENSP00000302895:I11V	I	-	1	0	ARAP2	35907473	1.000000	0.71417	0.979000	0.43373	0.674000	0.39518	2.970000	0.49240	0.931000	0.37242	0.524000	0.50904	ATA		0.383	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215074.2		NM_015230		8	35	0	0	0	0.000978	0	8	35		
KCTD8	386617	broad.mit.edu	37	4	44177154	44177154	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr4:44177154T>C	ENST00000360029.3	-	2	1358	c.1075A>G	c.(1075-1077)Agt>Ggt	p.S359G		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	359					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)				central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						CTGTCACAACTGGAAGTGGAG	0.468										HNSCC(17;0.042)																												uc003gwu.2		NaN																	0				central_nervous_system(2)|ovary(1)	3						c.(1075-1077)AGT>GGT		potassium channel tetramerisation domain							139.0	130.0	133.0					4																	44177154		2203	4300	6503	SO:0001583	missense	386617					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr4:44177154T>C	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 8"""				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.1075A>G	4.37:g.44177154T>C	ENSP00000353129:p.Ser359Gly	HNSCC(17;0.042)					p.S359G	NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN			2	1359	-			359					A2RU39	Missense_Mutation	SNP	ENST00000360029.3	37	c.1075A>G	CCDS3467.1	.	.	.	.	.	.	.	.	.	.	T	16.68	3.190001	0.58017	.	.	ENSG00000183783	ENST00000360029	T	0.40225	1.04	4.65	4.65	0.58169	.	0.000000	0.64402	D	0.000017	T	0.35393	0.0930	L	0.29908	0.895	0.36850	D	0.887841	P	0.48998	0.918	B	0.43701	0.428	T	0.49283	-0.8956	10	0.72032	D	0.01	.	13.6861	0.62517	0.0:0.0:0.0:1.0	.	359	Q6ZWB6	KCTD8_HUMAN	G	359	ENSP00000353129:S359G	ENSP00000353129:S359G	S	-	1	0	KCTD8	43871911	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.439000	0.59968	2.078000	0.62432	0.477000	0.44152	AGT		0.468	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1				17	38	0	0	0	0.007413	0	17	38		
FRYL	285527	broad.mit.edu	37	4	48577219	48577219	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr4:48577219T>C	ENST00000503238.1	-	22	2760	c.2761A>G	c.(2761-2763)Ata>Gta	p.I921V	FRYL_ENST00000264319.7_5'UTR|RNU5E-3P_ENST00000515913.1_RNA|FRYL_ENST00000507711.1_Missense_Mutation_p.I921V|FRYL_ENST00000537810.1_Missense_Mutation_p.I921V|FRYL_ENST00000358350.4_Missense_Mutation_p.I921V			O94915	FRYL_HUMAN	FRY-like	921					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ATTGGAACTATGTGCTTAAAC	0.398																																						uc003gyh.1		NaN																	0				skin(1)	1						c.(2761-2763)ATA>GTA		furry-like							111.0	104.0	106.0					4																	48577219		1886	4105	5991	SO:0001583	missense	285527				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	g.chr4:48577219T>C	AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.2761A>G	4.37:g.48577219T>C	ENSP00000426064:p.Ile921Val					FRYL_uc003gyk.2_Missense_Mutation_p.I921V	p.I921V	NM_015030	NP_055845	O94915	FRYL_HUMAN			25	3366	-			921					O95640|Q8WTZ5|Q9NT40	Missense_Mutation	SNP	ENST00000503238.1	37	c.2761A>G	CCDS43227.1	.	.	.	.	.	.	.	.	.	.	T	8.124	0.781611	0.16120	.	.	ENSG00000075539	ENST00000503238;ENST00000358350;ENST00000537810;ENST00000507711	T;T;T;T	0.05025	3.51;3.51;3.51;3.51	5.71	5.71	0.89125	Armadillo-like helical (1);Armadillo-type fold (1);	0.143965	0.46758	U	0.000262	T	0.03095	0.0091	N	0.03194	-0.395	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.29610	-1.0006	10	0.02654	T	1	.	16.0042	0.80349	0.0:0.0:0.0:1.0	.	921;921	F2Z2S2;O94915	.;FRYL_HUMAN	V	921	ENSP00000426064:I921V;ENSP00000351113:I921V;ENSP00000441114:I921V;ENSP00000421584:I921V	ENSP00000351113:I921V	I	-	1	0	FRYL	48271976	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	1.463000	0.35277	2.171000	0.68590	0.528000	0.53228	ATA		0.398	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369265.2				5	28	0	0	0	0.000602	0	5	28		
OCIAD1	54940	broad.mit.edu	37	4	48859275	48859275	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr4:48859275C>G	ENST00000381473.3	+	8	1011	c.593C>G	c.(592-594)aCa>aGa	p.T198R	OCIAD1_ENST00000425583.2_Intron|OCIAD1-AS1_ENST00000513576.1_RNA|OCIAD1_ENST00000509122.1_Missense_Mutation_p.T171R|OCIAD1_ENST00000396448.2_Intron|OCIAD1_ENST00000444354.2_Intron|OCIAD1_ENST00000264312.7_Missense_Mutation_p.T198R|OCIAD1_ENST00000513391.2_Missense_Mutation_p.T198R|OCIAD1_ENST00000508293.1_Missense_Mutation_p.T198R|OCIAD1_ENST00000506801.1_Intron	NM_001079839.2	NP_001073308.1	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1	198						endosome (GO:0005768)|membrane (GO:0016020)|mitochondrion (GO:0005739)				breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						AAAAATATTACATATGAGGAA	0.333																																						uc003gyo.2		NaN																	0					0						c.(592-594)ACA>AGA		OCIA domain containing 1 isoform 1							54.0	59.0	57.0					4																	48859275		2202	4296	6498	SO:0001583	missense	54940					endosome	protein binding	g.chr4:48859275C>G	AF324350	CCDS3484.1, CCDS43228.1, CCDS47052.1	4p11	2010-03-19			ENSG00000109180	ENSG00000109180			16074	protein-coding gene	gene with protein product						11162530, 18328549	Standard	NM_017830		Approved	FLJ20455, TPA018, OCIA, Asrij	uc010igk.3	Q9NX40	OTTHUMG00000102095	ENST00000381473.3:c.593C>G	4.37:g.48859275C>G	ENSP00000370882:p.Thr198Arg					OCIAD1_uc003gyr.2_Missense_Mutation_p.T198R|OCIAD1_uc003gyp.2_Intron|OCIAD1_uc003gys.2_Intron|OCIAD1_uc003gyq.2_Intron|OCIAD1_uc010igk.2_Missense_Mutation_p.T203R	p.T198R	NM_017830	NP_060300	Q9NX40	OCAD1_HUMAN			8	850	+			198					C9K030|G8JLN7|Q9BZE8	Missense_Mutation	SNP	ENST00000381473.3	37	c.593C>G	CCDS3484.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.040805	0.75732	.	.	ENSG00000109180	ENST00000509122;ENST00000264312;ENST00000381473;ENST00000503016;ENST00000508293;ENST00000513391	T;T;T;T	0.50277	0.75;0.75;0.75;0.75	5.96	5.96	0.96718	.	0.107589	0.64402	D	0.000008	T	0.68769	0.3037	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71870	0.975;0.975	T	0.67440	-0.5670	9	.	.	.	-15.4531	17.3388	0.87289	0.0:1.0:0.0:0.0	.	171;198	D6RBN5;Q9NX40	.;OCAD1_HUMAN	R	171;198;198;144;198;198	ENSP00000264312:T198R;ENSP00000370882:T198R;ENSP00000423002:T198R;ENSP00000423909:T198R	.	T	+	2	0	OCIAD1	48554032	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.804000	0.55568	2.832000	0.97577	0.655000	0.94253	ACA		0.333	OCIAD1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361812.3		NM_017830		5	6	0	0	0	0.001984	0	5	6		
SCFD2	152579	broad.mit.edu	37	4	54232001	54232001	+	Silent	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr4:54232001C>A	ENST00000401642.3	-	1	241	c.108G>T	c.(106-108)ctG>ctT	p.L36L	SCFD2_ENST00000388940.4_Silent_p.L36L	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	36					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			AGCCCCAGTGCAGGCTCTCGG	0.652																																						uc003gzu.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(106-108)CTG>CTT		sec1 family domain containing 2							38.0	42.0	40.0					4																	54232001		2203	4300	6503	SO:0001819	synonymous_variant	152579				protein transport|vesicle docking involved in exocytosis			g.chr4:54232001C>A	AY299407	CCDS33984.1	4q12	2004-01-15			ENSG00000184178	ENSG00000184178			30676	protein-coding gene	gene with protein product						12477932	Standard	NM_152540		Approved	STXBP1L1, FLJ39514	uc003gzu.3	Q8WU76	OTTHUMG00000160588	ENST00000401642.3:c.108G>T	4.37:g.54232001C>A						SCFD2_uc010igm.2_Silent_p.L36L	p.L36L	NM_152540	NP_689753	Q8WU76	SCFD2_HUMAN	GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)		1	242	-			36					Q8N5F3|Q8N8H0|Q96ED3	Silent	SNP	ENST00000401642.3	37	c.108G>T	CCDS33984.1																																																																																				0.652	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361311.3		NM_152540		67	64	1	0	1.43161e-34	0.00361	1.63341e-34	67	64		
ODAM	54959	broad.mit.edu	37	4	71068501	71068501	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr4:71068501A>G	ENST00000396094.2	+	9	725	c.677A>G	c.(676-678)cAa>cGa	p.Q226R		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	226					biomineral tissue development (GO:0031214)|odontogenesis of dentin-containing tooth (GO:0042475)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|fibril (GO:0043205)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						CCATATTTACAAAAAGAAGCG	0.388																																						uc003hfc.2		NaN																	0				ovary(3)|large_intestine(1)	4						c.(676-678)CAA>CGA		odontogenic ameloblast-associated protein							73.0	68.0	70.0					4																	71068501		2203	4299	6502	SO:0001583	missense	54959				biomineral tissue development|odontogenesis of dentine-containing tooth	fibril		g.chr4:71068501A>G	AK000520	CCDS3536.2	4q13.3	2010-11-23			ENSG00000109205	ENSG00000109205			26043	protein-coding gene	gene with protein product		614843				14647039	Standard	NM_017855		Approved	APin, FLJ20513	uc003hfc.3	A1E959	OTTHUMG00000129406	ENST00000396094.2:c.677A>G	4.37:g.71068501A>G	ENSP00000379401:p.Gln226Arg						p.Q226R	NM_017855	NP_060325	A1E959	ODAM_HUMAN			9	694	+			226					Q8WWE5|Q9NWZ9	Missense_Mutation	SNP	ENST00000396094.2	37	c.677A>G	CCDS3536.2	.	.	.	.	.	.	.	.	.	.	A	11.22	1.575158	0.28092	.	.	ENSG00000109205	ENST00000396094;ENST00000510709;ENST00000514097	T;T	0.55930	0.49;0.49	4.95	3.76	0.43208	.	0.546808	0.16833	N	0.197692	T	0.42675	0.1213	L	0.44542	1.39	0.09310	N	0.999999	B	0.23249	0.082	B	0.25140	0.058	T	0.32348	-0.9910	10	0.39692	T	0.17	-3.7112	7.5882	0.28006	0.9043:0.0:0.0957:0.0	.	226	A1E959	ODAM_HUMAN	R	226;212;163	ENSP00000379401:Q226R;ENSP00000426106:Q163R	ENSP00000379401:Q226R	Q	+	2	0	ODAM	71103090	0.783000	0.28701	0.511000	0.27724	0.020000	0.10135	1.698000	0.37794	1.011000	0.39340	0.533000	0.62120	CAA		0.388	ODAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251562.1		NM_017855		7	13	0	0	0	0.00308	0	7	13		
GRSF1	2926	broad.mit.edu	37	4	71693625	71693625	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr4:71693625T>C	ENST00000254799.6	-	6	1196	c.1079A>G	c.(1078-1080)cAt>cGt	p.H360R	GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000545193.1_Missense_Mutation_p.H242R|GRSF1_ENST00000502323.1_Missense_Mutation_p.H198R|GRSF1_ENST00000439371.1_Missense_Mutation_p.H198R	NM_002092.3	NP_002083	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	360					anterior/posterior pattern specification (GO:0009952)|morphogenesis of embryonic epithelium (GO:0016331)|mRNA polyadenylation (GO:0006378)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			ATTTACTTCATGTTCTTCAAA	0.383																																						uc010iia.1		NaN																	0					0						c.(1078-1080)CAT>CGT		G-rich RNA sequence binding factor 1 isoform 1							228.0	226.0	227.0					4																	71693625		1866	4106	5972	SO:0001583	missense	2926				mRNA polyadenylation		mRNA binding|nucleotide binding	g.chr4:71693625T>C	BC040485	CCDS47069.1, CCDS47070.1	4q13	2013-07-16				ENSG00000132463		"""RNA binding motif (RRM) containing"""	4610	protein-coding gene	gene with protein product		604851				8036161	Standard	NM_001098477		Approved		uc010iia.1	Q12849		ENST00000254799.6:c.1079A>G	4.37:g.71693625T>C	ENSP00000254799:p.His360Arg					GRSF1_uc011caz.1_Missense_Mutation_p.H242R|GRSF1_uc003hfs.2_Missense_Mutation_p.H198R	p.H360R	NM_002092	NP_002083	Q12849	GRSF1_HUMAN	Lung(101;0.235)		6	1162	-		all_hematologic(202;0.21)	360					B3KPW0|Q4W5S5|Q6ZST3|Q8IWD6|Q8NBD2	Missense_Mutation	SNP	ENST00000254799.6	37	c.1079A>G	CCDS47069.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.71|11.71	1.718823|1.718823	0.30503|0.30503	.|.	.|.	ENSG00000132463|ENSG00000132463	ENST00000254799;ENST00000439371;ENST00000540657;ENST00000499044;ENST00000502323;ENST00000545193|ENST00000514161	T;T;T;T;T|.	0.17528|.	2.3;2.34;2.27;2.34;2.34|.	6.16|6.16	3.58|3.58	0.41010|0.41010	.|.	0.852661|.	0.10741|.	N|.	0.639404|.	T|T	0.29458|0.29458	0.0734|0.0734	N|N	0.19112|0.19112	0.55|0.55	0.31156|0.31156	N|N	0.704904|0.704904	B;B|.	0.30763|.	0.014;0.294|.	B;B|.	0.27887|.	0.016;0.084|.	T|T	0.18272|0.18272	-1.0342|-1.0342	10|5	0.23891|.	T|.	0.37|.	-4.914|-4.914	7.672|7.672	0.28463|0.28463	0.0:0.0731:0.2246:0.7023|0.0:0.0731:0.2246:0.7023	.|.	273;360|.	B7Z5F9;Q12849|.	.;GRSF1_HUMAN|.	R|V	360;198;292;333;198;242|297	ENSP00000254799:H360R;ENSP00000389219:H198R;ENSP00000427354:H333R;ENSP00000425430:H198R;ENSP00000443380:H242R|.	ENSP00000254799:H360R|.	H|M	-|-	2|1	0|0	GRSF1|GRSF1	71912489|71912489	0.877000|0.877000	0.30153|0.30153	0.980000|0.980000	0.43619|0.43619	0.995000|0.995000	0.86356|0.86356	1.574000|1.574000	0.36482|0.36482	2.367000|2.367000	0.80283|0.80283	0.528000|0.528000	0.53228|0.53228	CAT|ATG		0.383	GRSF1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362642.1		NM_002092		19	50	0	0	0	0.002299	0	19	50		
WDFY3	23001	broad.mit.edu	37	4	85731400	85731400	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr4:85731400T>C	ENST00000295888.4	-	14	2392	c.1985A>G	c.(1984-1986)gAa>gGa	p.E662G	WDFY3-AS1_ENST00000510449.1_RNA|WDFY3_ENST00000322366.6_Missense_Mutation_p.E662G	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	662					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CAAAGATCTTTCCATAGCAAC	0.458																																						uc003hpd.2		NaN																	0				ovary(2)|central_nervous_system(1)	3						c.(1984-1986)GAA>GGA		WD repeat and FYVE domain containing 3 isoform							75.0	71.0	72.0					4																	85731400		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85731400T>C	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.1985A>G	4.37:g.85731400T>C	ENSP00000295888:p.Glu662Gly					WDFY3_uc003hpf.2_Missense_Mutation_p.E662G	p.E662G	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	14	2393	-		Hepatocellular(203;0.114)	662					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.1985A>G	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	T	32	5.137479	0.94517	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.71341	-0.56;-0.56	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.82825	0.5121	M	0.75615	2.305	0.80722	D	1	D;D	0.69078	0.997;0.991	D;P	0.63703	0.917;0.829	D	0.84725	0.0742	10	0.66056	D	0.02	.	16.2567	0.82522	0.0:0.0:0.0:1.0	.	662;662	E2QRK8;Q8IZQ1	.;WDFY3_HUMAN	G	662	ENSP00000318466:E662G;ENSP00000295888:E662G	ENSP00000295888:E662G	E	-	2	0	WDFY3	85950424	1.000000	0.71417	0.980000	0.43619	0.990000	0.78478	7.587000	0.82613	2.242000	0.73789	0.482000	0.46254	GAA		0.458	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2		NM_014991		10	29	0	0	0	0.001368	0	10	29		
ANKRD50	57182	broad.mit.edu	37	4	125590169	125590169	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr4:125590169G>C	ENST00000504087.1	-	4	5300	c.4263C>G	c.(4261-4263)ttC>ttG	p.F1421L	ANKRD50_ENST00000515641.1_Missense_Mutation_p.F1242L	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1421										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TTTTATAGTTGAAGCTAGGGT	0.383																																						uc003ifg.3		NaN																	0				central_nervous_system(1)	1						c.(4261-4263)TTC>TTG		ankyrin repeat domain 50							76.0	77.0	76.0					4																	125590169		2203	4300	6503	SO:0001583	missense	57182							g.chr4:125590169G>C	AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.4263C>G	4.37:g.125590169G>C	ENSP00000425658:p.Phe1421Leu					ANKRD50_uc011cgo.1_Missense_Mutation_p.F1242L|ANKRD50_uc010inw.2_Missense_Mutation_p.F1421L	p.F1421L	NM_020337	NP_065070	Q9ULJ7	ANR50_HUMAN			3	4529	-			1421					A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	c.4263C>G	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.047731	0.36085	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	T;T	0.70869	-0.37;-0.52	5.35	5.35	0.76521	.	0.051530	0.85682	D	0.000000	T	0.51278	0.1665	N	0.12182	0.205	0.34033	D	0.65411	B	0.06786	0.001	B	0.06405	0.002	T	0.58329	-0.7655	10	0.52906	T	0.07	.	9.7864	0.40679	0.1502:0.0:0.8498:0.0	.	1421	Q9ULJ7	ANR50_HUMAN	L	1421;1242	ENSP00000425658:F1421L;ENSP00000425355:F1242L	ENSP00000425658:F1421L	F	-	3	2	ANKRD50	125809619	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.031000	0.49728	2.788000	0.95919	0.555000	0.69702	TTC		0.383	ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1		NM_020337		4	4	0	0	0	0.009096	0	4	4		
PCDH18	54510	broad.mit.edu	37	4	138452651	138452651	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr4:138452651G>A	ENST00000344876.4	-	1	978	c.592C>T	c.(592-594)Ctc>Ttc	p.L198F	PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.L198F|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_5'UTR	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	198	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ACCACTATGAGTTCTGCATAC	0.488																																						uc003ihe.3		NaN																	0				pancreas(3)|skin(2)	5						c.(592-594)CTC>TTC		protocadherin 18 precursor							63.0	63.0	63.0					4																	138452651		2203	4300	6503	SO:0001583	missense	54510				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:138452651G>A	AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.592C>T	4.37:g.138452651G>A	ENSP00000355082:p.Leu198Phe					PCDH18_uc003ihf.3_Missense_Mutation_p.L191F|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_5'UTR|PCDH18_uc011cha.1_Intron	p.L198F	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN			1	979	-	all_hematologic(180;0.24)		198			Extracellular (Potential).|Cadherin 2.		A8K7K3|B7ZKT1|Q52LS2	Missense_Mutation	SNP	ENST00000344876.4	37	c.592C>T	CCDS34064.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.425263	0.83667	.	.	ENSG00000189184	ENST00000344876;ENST00000412923	T;T	0.62364	0.03;0.03	5.89	5.89	0.94794	Cadherin (4);Cadherin-like (1);	0.000000	0.39083	N	0.001473	D	0.87305	0.6144	H	0.96720	3.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.90671	0.4598	10	0.87932	D	0	.	20.2527	0.98410	0.0:0.0:1.0:0.0	.	198;198	Q9HCL0-2;Q9HCL0	.;PCD18_HUMAN	F	198	ENSP00000355082:L198F;ENSP00000390688:L198F	ENSP00000355082:L198F	L	-	1	0	PCDH18	138672101	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.624000	0.74243	2.788000	0.95919	0.557000	0.71058	CTC		0.488	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364614.1		NM_019035		8	30	0	0	0	0.00308	0	8	30		
FNIP2	57600	broad.mit.edu	37	4	159789770	159789770	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr4:159789770G>T	ENST00000264433.6	+	13	2057	c.1982G>T	c.(1981-1983)gGc>gTc	p.G661V	FNIP2_ENST00000379346.3_Missense_Mutation_p.G684V	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	661	Interaction with PRKAA1.				intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.G661D(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		CCGCAAGATGGCTCTTCAAGA	0.522																																						uc003iqe.3		NaN																	1	Substitution - Missense(1)		large_intestine(1)		0						c.(1981-1983)GGC>GTC		folliculin interacting protein 2							32.0	37.0	36.0					4																	159789770		1933	4137	6070	SO:0001583	missense	57600				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding	g.chr4:159789770G>T	AB040883	CCDS47155.1	4q32.1	2012-10-31			ENSG00000052795	ENSG00000052795			29280	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 1"""	612768				18403135	Standard	NM_020840		Approved	KIAA1450, FNIPL, MAPO1	uc003iqe.4	Q9P278	OTTHUMG00000161983	ENST00000264433.6:c.1982G>T	4.37:g.159789770G>T	ENSP00000264433:p.Gly661Val						p.G661V	NM_020840	NP_065891	Q9P278	FNIP2_HUMAN		COAD - Colon adenocarcinoma(41;0.00936)	13	2165	+	all_hematologic(180;0.24)		661			Interaction with PRKAA1.		Q05DC3|Q96I31|Q9H994	Missense_Mutation	SNP	ENST00000264433.6	37	c.1982G>T	CCDS47155.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.918236	0.52546	.	.	ENSG00000052795	ENST00000264433;ENST00000379346	T;T	0.24151	1.88;1.87	5.81	-1.03	0.10102	.	.	.	.	.	T	0.19127	0.0459	L	0.52573	1.65	0.09310	N	1	P	0.39282	0.666	B	0.36845	0.234	T	0.13926	-1.0491	8	.	.	.	.	5.6331	0.17522	0.4982:0.0:0.369:0.1328	.	661	Q9P278	FNIP2_HUMAN	V	661;684	ENSP00000264433:G661V;ENSP00000368651:G684V	.	G	+	2	0	FNIP2	160009220	.	.	0.000000	0.03702	0.003000	0.03518	.	.	-0.153000	0.11137	-0.150000	0.13652	GGC		0.522	FNIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366602.1		NM_020840		14	13	1	0	1.49906e-05	0.00245	1.53851e-05	14	13		
FSTL5	56884	broad.mit.edu	37	4	162697123	162697123	+	Silent	SNP	G	G	A	rs201353835		TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr4:162697123G>A	ENST00000306100.5	-	5	949	c.513C>T	c.(511-513)gaC>gaT	p.D171D	FSTL5_ENST00000427802.2_Silent_p.D170D|FSTL5_ENST00000536695.1_Silent_p.D170D|FSTL5_ENST00000379164.4_Silent_p.D170D	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	171						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.D171D(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GAGATATGTCGTCGCCATTAG	0.303													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15117	0.0		0.0	False		,,,				2504	0.0					uc003iqh.2		NaN																	1	Substitution - coding silent(1)		large_intestine(1)	ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8						c.(511-513)GAC>GAT		follistatin-like 5 isoform a		G	,,	0,4406		0,0,2203	99.0	99.0	99.0		510,510,513	1.2	0.9	4		99	1,8587	1.2+/-3.3	0,1,4293	no	coding-synonymous,coding-synonymous,coding-synonymous	FSTL5	NM_001128427.1,NM_001128428.1,NM_020116.3	,,	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	,,	170/847,170/838,171/848	162697123	1,12993	2203	4294	6497	SO:0001819	synonymous_variant	56884					extracellular region	calcium ion binding	g.chr4:162697123G>A	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.513C>T	4.37:g.162697123G>A						FSTL5_uc003iqi.2_Silent_p.D170D|FSTL5_uc010iqv.2_Silent_p.D170D	p.D171D	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	5	949	-	all_hematologic(180;0.24)		171					E9PCP6|Q9NSW7|Q9ULF7	Silent	SNP	ENST00000306100.5	37	c.513C>T	CCDS3802.1																																																																																				0.303	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2		NM_020116		5	9	0	0	0	0.000602	0	5	9		
MARCH1	55016	broad.mit.edu	37	4	165118190	165118191	+	Intron	DNP	CC	CC	AG			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr4:165118190_165118191CC>AG	ENST00000503008.1	-	2	864				MARCH1_ENST00000508725.1_Intron|MARCH1_ENST00000514618.1_Intron	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase						antigen processing and presentation of peptide antigen via MHC class II (GO:0002495)|immune response (GO:0006955)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	ligase activity (GO:0016874)|MHC protein binding (GO:0042287)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ttcttcttcaccaagctcttct	0.446																																						uc011cjk.1		NaN																	0					0						c.(673-675)GGT>CTT		acidic nuclear phosphoprotein 32C																																				SO:0001627	intron_variant	23520							g.chr4:165118190_165118191CC>AG	AK000675	CCDS3806.1, CCDS54814.1	4q32.2	2013-01-09	2012-02-23			ENSG00000145416		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	26077	protein-coding gene	gene with protein product		613331	"""membrane-associated ring finger (C3HC4) 1"""			14722266	Standard	NM_017923		Approved	FLJ20668, MARCH-I, RNF171	uc003iqs.2	Q8TCQ1		ENST00000503008.1:c.1_1delinsAG	4.37:g.165118190_165118191delinsAG						MARCH1_uc003iqs.1_Intron	p.G225L	NM_012403	NP_036535	O43423	AN32C_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.242)	1	673_674	-	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)	225			Asp/Glu-rich (highly acidic).		D3DP29|Q9NWR0	Missense_Mutation	DNP	ENST00000503008.1	37	c.673_674GG>CT	CCDS54814.1																																																																																				0.446	MARCH1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364493.2		NM_017923		8	6	0	0	0	0.004672	0	8	6		
PDZD2	23037	broad.mit.edu	37	5	32048677	32048677	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr5:32048677T>C	ENST00000438447.1	+	8	1940	c.1552T>C	c.(1552-1554)Tat>Cat	p.Y518H	PDZD2_ENST00000282493.3_Missense_Mutation_p.Y518H			O15018	PDZD2_HUMAN	PDZ domain containing 2	518					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AGTTGAAGAATATAACGAGCT	0.527																																						uc003jhl.2		NaN																	0				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						c.(1552-1554)TAT>CAT		PDZ domain containing 2							51.0	52.0	52.0					5																	32048677		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32048677T>C	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.1552T>C	5.37:g.32048677T>C	ENSP00000402033:p.Tyr518His					PDZD2_uc003jhm.2_Missense_Mutation_p.Y518H|PDZD2_uc011cnx.1_Missense_Mutation_p.Y344H	p.Y518H	NM_178140	NP_835260	O15018	PDZD2_HUMAN			8	1940	+			518					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.1552T>C	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	T	18.05	3.537593	0.65085	.	.	ENSG00000133401	ENST00000438447;ENST00000282493	T;T	0.06608	3.28;3.28	5.41	4.22	0.49857	.	0.000000	0.41097	D	0.000960	T	0.09423	0.0232	N	0.19112	0.55	0.35309	D	0.7837	D;D	0.76494	0.99;0.999	P;D	0.66196	0.731;0.942	T	0.38607	-0.9653	10	0.16420	T	0.52	.	9.4882	0.38942	0.0:0.0:0.3145:0.6855	.	344;518	B4E3P2;O15018	.;PDZD2_HUMAN	H	518	ENSP00000402033:Y518H;ENSP00000282493:Y518H	ENSP00000282493:Y518H	Y	+	1	0	PDZD2	32084434	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.429000	0.66495	2.188000	0.69820	0.533000	0.62120	TAT		0.527	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1				51	46	0	0	0	0.00361	0	51	46		
PDZD2	23037	broad.mit.edu	37	5	32089375	32089375	+	Nonsense_Mutation	SNP	G	G	T	rs200361032		TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr5:32089375G>T	ENST00000438447.1	+	20	6209	c.5821G>T	c.(5821-5823)Gag>Tag	p.E1941*	PDZD2_ENST00000282493.3_Nonsense_Mutation_p.E1941*			O15018	PDZD2_HUMAN	PDZ domain containing 2	1941					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AGCCGACCACGAGGACCCTGA	0.602																																						uc003jhl.2		NaN																	0				central_nervous_system(4)|ovary(2)|skin(2)|large_intestine(1)	9						c.(5821-5823)GAG>TAG		PDZ domain containing 2							82.0	90.0	87.0					5																	32089375		2203	4300	6503	SO:0001587	stop_gained	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32089375G>T	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.5821G>T	5.37:g.32089375G>T	ENSP00000402033:p.Glu1941*					PDZD2_uc003jhm.2_Nonsense_Mutation_p.E1941*	p.E1941*	NM_178140	NP_835260	O15018	PDZD2_HUMAN			20	6209	+			1941					Q9BXD4	Nonsense_Mutation	SNP	ENST00000438447.1	37	c.5821G>T	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	G	46	12.777900	0.99695	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	.	.	.	4.86	3.01	0.34805	.	0.429865	0.19822	N	0.105282	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	11.9735	0.53078	0.0:0.3358:0.6642:0.0	.	.	.	.	X	1941;1742;1941	.	ENSP00000282493:E1941X	E	+	1	0	PDZD2	32125132	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.173000	0.16724	0.681000	0.31386	0.655000	0.94253	GAG		0.602	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1				96	88	1	0	1.26289e-39	0.00361	1.44861e-39	96	88		
SPEF2	79925	broad.mit.edu	37	5	35779431	35779431	+	Nonsense_Mutation	SNP	T	T	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr5:35779431T>G	ENST00000356031.3	+	30	4584	c.4430T>G	c.(4429-4431)tTa>tGa	p.L1477*	SPEF2_ENST00000440995.2_Nonsense_Mutation_p.L1472*|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000303129.4_5'UTR	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1477					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GATCAGTTCTTAGATATGGCA	0.398																																						uc003jjo.2		NaN																	0				skin(2)|ovary(1)|central_nervous_system(1)	4						c.(4429-4431)TTA>TGA		KPL2 protein isoform 1							74.0	65.0	68.0					5																	35779431		1862	4100	5962	SO:0001587	stop_gained	79925				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	g.chr5:35779431T>G	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.4430T>G	5.37:g.35779431T>G	ENSP00000348314:p.Leu1477*					SPEF2_uc003jjp.1_Nonsense_Mutation_p.L963*|SPEF2_uc003jjr.2_5'UTR	p.L1477*	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		30	4541	+	all_lung(31;7.56e-05)		1477					Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Nonsense_Mutation	SNP	ENST00000356031.3	37	c.4430T>G	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	T	36	5.754784	0.96890	.	.	ENSG00000152582	ENST00000356031;ENST00000440995	.	.	.	5.5	5.5	0.81552	.	0.596379	0.16793	N	0.199316	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	13.9814	0.64306	0.0:0.0:0.0:1.0	.	.	.	.	X	1477;1472	.	ENSP00000348314:L1477X	L	+	2	0	SPEF2	35815188	0.996000	0.38824	0.981000	0.43875	0.996000	0.88848	3.192000	0.50989	2.299000	0.77371	0.528000	0.53228	TTA		0.398	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1		NM_144722		31	26	0	0	0	0.004878	0	31	26		
C7	730	broad.mit.edu	37	5	40972587	40972587	+	Silent	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr5:40972587G>C	ENST00000313164.9	+	15	2324	c.1965G>C	c.(1963-1965)gtG>gtC	p.V655V		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	655	CCP 2.|Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.V655V(1)					Ovarian(839;0.0112)				GTGAGAAGGTGACTGTTTCCT	0.473																																						uc003jmh.2		NaN																	1	Substitution - coding silent(1)		upper_aerodigestive_tract(1)		0						c.(1963-1965)GTG>GTC		complement component 7 precursor							179.0	173.0	175.0					5																	40972587		2017	4187	6204	SO:0001819	synonymous_variant	730				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		g.chr5:40972587G>C	J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.1965G>C	5.37:g.40972587G>C						C7_uc011cpn.1_RNA	p.V655V	NM_000587	NP_000578	P10643	CO7_HUMAN			15	2079	+		Ovarian(839;0.0112)	655			Sushi 2.		Q6P3T5|Q92489	Silent	SNP	ENST00000313164.9	37	c.1965G>C	CCDS47201.1																																																																																				0.473	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317680.1				7	70	0	0	0	0.00308	0	7	70		
MROH2B	133558	broad.mit.edu	37	5	41045898	41045898	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr5:41045898G>C	ENST00000399564.4	-	18	2236	c.1786C>G	c.(1786-1788)Cag>Gag	p.Q596E	MROH2B_ENST00000506092.2_Missense_Mutation_p.Q151E	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	596								p.Q596K(1)									TTGAAATCCTGAGTCAGCTGA	0.423																																						uc003jmj.3		NaN																	1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(2)	8						c.(1786-1788)CAG>GAG		HEAT repeat family member 7B2							227.0	217.0	220.0					5																	41045898		1999	4179	6178	SO:0001583	missense	133558						binding	g.chr5:41045898G>C		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.1786C>G	5.37:g.41045898G>C	ENSP00000382476:p.Gln596Glu					HEATR7B2_uc003jmi.3_Missense_Mutation_p.Q151E	p.Q596E	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			18	2276	-			596			HEAT 7.		Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.1786C>G	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	6.914	0.538326	0.13188	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.68025	3.18;-0.3	5.87	4.99	0.66335	Armadillo-type fold (1);	0.581652	0.14417	N	0.320902	T	0.48696	0.1514	N	0.22421	0.69	0.19575	N	0.999969	B	0.10296	0.003	B	0.13407	0.009	T	0.25152	-1.0140	10	0.02654	T	1	.	12.4748	0.55807	0.0:0.0:0.8329:0.1671	.	596	Q7Z745	HTRB2_HUMAN	E	151;301;596	ENSP00000441504:Q151E;ENSP00000382476:Q596E	ENSP00000296803:Q301E	Q	-	1	0	HEATR7B2	41081655	0.977000	0.34250	0.915000	0.36163	0.037000	0.13140	2.313000	0.43735	1.472000	0.48140	0.650000	0.86243	CAG		0.423	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2		NM_173489		112	93	0	0	0	0.00361	0	112	93		
NIM1K	167359	broad.mit.edu	37	5	43277375	43277375	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr5:43277375A>T	ENST00000512796.1	+	3	2008	c.509A>T	c.(508-510)gAa>gTa	p.E170V	NIM1_ENST00000326035.2_Missense_Mutation_p.E170V			Q8IY84	NIM1_HUMAN		170	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein phosphorylation (GO:0006468)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)										AAGCTCTCTGAACCAGAAAGC	0.532																																						uc003jno.2		NaN																	0				lung(4)|ovary(2)|stomach(1)|large_intestine(1)|breast(1)	9						c.(508-510)GAA>GTA		serine/threonine-protein kinase NIM1							119.0	104.0	109.0					5																	43277375		2203	4300	6503	SO:0001583	missense	167359						ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr5:43277375A>T																												ENST00000512796.1:c.509A>T	5.37:g.43277375A>T	ENSP00000420849:p.Glu170Val						p.E170V	NM_153361	NP_699192	Q8IY84	NIM1_HUMAN			3	1390	+			170			Protein kinase.		B3KVM1	Missense_Mutation	SNP	ENST00000512796.1	37	c.509A>T	CCDS3943.1	.	.	.	.	.	.	.	.	.	.	A	32	5.186776	0.94923	.	.	ENSG00000177453	ENST00000326035;ENST00000512796	T;T	0.29655	1.56;1.56	5.91	5.91	0.95273	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.054032	0.64402	D	0.000001	T	0.63780	0.2540	M	0.89968	3.075	0.80722	D	1	D	0.67145	0.996	D	0.74674	0.984	T	0.72097	-0.4393	10	0.87932	D	0	.	16.3351	0.83056	1.0:0.0:0.0:0.0	.	170	Q8IY84	NIM1_HUMAN	V	170	ENSP00000313572:E170V;ENSP00000420849:E170V	ENSP00000313572:E170V	E	+	2	0	AC114947.1	43313132	1.000000	0.71417	0.966000	0.40874	0.989000	0.77384	9.339000	0.96797	2.262000	0.75019	0.528000	0.53228	GAA		0.532	NIM1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368017.1				29	77	0	0	0	0.00623	0	29	77		
F2RL1	2150	broad.mit.edu	37	5	76129480	76129480	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr5:76129480G>C	ENST00000296677.4	+	2	1254	c.1048G>C	c.(1048-1050)Gat>Cat	p.D350H		NM_005242.4	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	350					blood coagulation (GO:0007596)|chemokine (C-C motif) ligand 2 secretion (GO:0035926)|chemokine secretion (GO:0090195)|defense response to virus (GO:0051607)|establishment of endothelial barrier (GO:0061028)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|interleukin-1 beta secretion (GO:0050702)|interleukin-10 secretion (GO:0072608)|leukocyte migration (GO:0050900)|leukocyte proliferation (GO:0070661)|mature dendritic cell differentiation (GO:0097029)|negative regulation of chemokine secretion (GO:0090198)|negative regulation of JNK cascade (GO:0046329)|negative regulation of toll-like receptor 3 signaling pathway (GO:0034140)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neutrophil activation (GO:0042119)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of cell migration (GO:0030335)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytokine secretion involved in immune response (GO:0002741)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of eosinophil degranulation (GO:0043311)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of JNK cascade (GO:0046330)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of neutrophil mediated killing of gram-negative bacterium (GO:0070963)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of renin secretion into blood stream (GO:1900135)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of toll-like receptor 2 signaling pathway (GO:0034137)|positive regulation of toll-like receptor 3 signaling pathway (GO:0034141)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasodilation (GO:0045909)|regulation of blood coagulation (GO:0030193)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of JNK cascade (GO:0046328)|T cell activation involved in immune response (GO:0002286)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	G-protein alpha-subunit binding (GO:0001965)|G-protein beta-subunit binding (GO:0031681)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|receptor binding (GO:0005102)|thrombin receptor activity (GO:0015057)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		TGTTTCACATGATTTCAGGGA	0.488																																						uc003keo.2		NaN																	0				central_nervous_system(1)	1						c.(1048-1050)GAT>CAT		coagulation factor II (thrombin) receptor-like 1							334.0	327.0	330.0					5																	76129480		2203	4300	6503	SO:0001583	missense	2150				blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity	g.chr5:76129480G>C	BC018130	CCDS4033.1	5q13	2012-08-08			ENSG00000164251	ENSG00000164251		"""GPCR / Class A : Protease activated receptors"""	3538	protein-coding gene	gene with protein product	"""proteinase-activated receptor-2"""	600933		GPR11		7937743, 7556175	Standard	NM_005242		Approved	PAR2	uc003keo.3	P55085	OTTHUMG00000102118	ENST00000296677.4:c.1048G>C	5.37:g.76129480G>C	ENSP00000296677:p.Asp350His						p.D350H	NM_005242	NP_005233	P55085	PAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)	2	1223	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	350			Cytoplasmic (Potential).		Q13317|Q13346|Q53XJ8	Missense_Mutation	SNP	ENST00000296677.4	37	c.1048G>C	CCDS4033.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.212124	0.79240	.	.	ENSG00000164251	ENST00000296677	T	0.39592	1.07	5.3	5.3	0.74995	.	0.096983	0.64402	D	0.000001	T	0.64216	0.2578	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.63037	-0.6726	9	.	.	.	-18.283	18.9645	0.92691	0.0:0.0:1.0:0.0	.	350	P55085	PAR2_HUMAN	H	350	ENSP00000296677:D350H	.	D	+	1	0	F2RL1	76165236	1.000000	0.71417	0.926000	0.36857	0.826000	0.46750	9.808000	0.99193	2.471000	0.83476	0.655000	0.94253	GAT		0.488	F2RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219957.2				129	53	0	0	0	0.00361	0	129	53		
PJA2	9867	broad.mit.edu	37	5	108680459	108680459	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr5:108680459C>G	ENST00000361189.2	-	8	2065	c.1826G>C	c.(1825-1827)aGt>aCt	p.S609T	PJA2_ENST00000361557.3_Missense_Mutation_p.S609T	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	609	Interaction with PRKAR1A, PRKAR2A and PRKAR2B.				long-term memory (GO:0007616)|protein ubiquitination (GO:0016567)|regulation of protein kinase A signaling (GO:0010738)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ligase activity (GO:0016874)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		GCTTTCCTTACTAGCTGGTGG	0.413																																						uc003kos.3		NaN																	0				ovary(1)|skin(1)	2						c.(1825-1827)AGT>ACT		praja 2, RING-H2 motif containing							134.0	137.0	136.0					5																	108680459		2202	4300	6502	SO:0001583	missense	9867				long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding	g.chr5:108680459C>G	AB007898	CCDS4099.1	5q22.1	2013-01-09	2012-02-23	2003-06-05	ENSG00000198961	ENSG00000198961		"""RING-type (C3HC4) zinc fingers"""	17481	protein-coding gene	gene with protein product			"""ring finger protein 131"", ""praja ring finger 2"""	RNF131			Standard	NM_014819		Approved	KIAA0438, Neurodap1	uc003kos.4	O43164	OTTHUMG00000128750	ENST00000361189.2:c.1826G>C	5.37:g.108680459C>G	ENSP00000354775:p.Ser609Thr						p.S609T	NM_014819	NP_055634	O43164	PJA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)	8	2046	-		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)	609			Interaction with PRKAR1A, PRKAR2A and PRKAR2B.		A8K6U4|D3DSZ5|Q68D49|Q8N1G5	Missense_Mutation	SNP	ENST00000361189.2	37	c.1826G>C	CCDS4099.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.202474	0.58234	.	.	ENSG00000198961	ENST00000361189;ENST00000361557	T;T	0.12569	2.67;2.67	5.98	5.98	0.97165	.	0.065990	0.64402	D	0.000008	T	0.08670	0.0215	N	0.08118	0	0.31185	N	0.701647	B	0.29432	0.244	B	0.31946	0.138	T	0.17531	-1.0366	10	0.18710	T	0.47	-19.1008	15.7213	0.77713	0.0:0.7617:0.2383:0.0	.	609	O43164	PJA2_HUMAN	T	609	ENSP00000354775:S609T;ENSP00000355284:S609T	ENSP00000354775:S609T	S	-	2	0	PJA2	108708358	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.905000	0.48727	2.838000	0.97847	0.591000	0.81541	AGT		0.413	PJA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250663.1		NM_014819		26	22	0	0	0	0.003755	0	26	22		
CHSY3	337876	broad.mit.edu	37	5	129520908	129520908	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr5:129520908G>A	ENST00000305031.4	+	3	2431	c.2073G>A	c.(2071-2073)atG>atA	p.M691I		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	691					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		TGATCCCAATGAAGGGAGAGT	0.443																																						uc003kvd.2		NaN																	0				ovary(2)|pancreas(1)	3						c.(2071-2073)ATG>ATA		chondroitin sulfate synthase 3							79.0	73.0	75.0					5																	129520908		2203	4300	6503	SO:0001583	missense	337876					Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr5:129520908G>A	AB086062	CCDS34223.1	5q13	2013-02-19			ENSG00000198108	ENSG00000198108	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24293	protein-coding gene	gene with protein product		609963				12907687	Standard	XM_005271982		Approved	CSS3, CHSY-2	uc003kvd.3	Q70JA7	OTTHUMG00000163043	ENST00000305031.4:c.2073G>A	5.37:g.129520908G>A	ENSP00000302629:p.Met691Ile						p.M691I	NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)	3	2073	+		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	691			Lumenal (Potential).		B2RP97|Q76L22|Q86Y52	Missense_Mutation	SNP	ENST00000305031.4	37	c.2073G>A	CCDS34223.1	.	.	.	.	.	.	.	.	.	.	G	4.017	0.000506	0.07819	.	.	ENSG00000198108	ENST00000305031	T	0.13307	2.6	4.23	3.33	0.38152	.	0.172270	0.40302	N	0.001138	T	0.08492	0.0211	N	0.16166	0.38	0.39647	D	0.970409	B	0.15141	0.012	B	0.20577	0.03	T	0.20571	-1.0271	9	.	.	.	-1.4417	13.6669	0.62401	0.0:0.0:0.8275:0.1725	.	691	Q70JA7	CHSS3_HUMAN	I	691	ENSP00000302629:M691I	.	M	+	3	0	CHSY3	129548807	1.000000	0.71417	0.996000	0.52242	0.885000	0.51271	3.347000	0.52200	1.300000	0.44818	0.650000	0.86243	ATG		0.443	CHSY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371453.1		NM_175856		15	5	0	0	0	0.00245	0	15	5		
FNIP1	96459	broad.mit.edu	37	5	131008068	131008068	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr5:131008068T>C	ENST00000510461.1	-	14	2164	c.2069A>G	c.(2068-2070)gAc>gGc	p.D690G	FNIP1_ENST00000307954.8_Missense_Mutation_p.D645G|FNIP1_ENST00000307968.7_Missense_Mutation_p.D662G|CTC-432M15.3_ENST00000514667.1_Intron	NM_133372.2	NP_588613	Q8TF40	FNIP1_HUMAN	folliculin interacting protein 1	690					cellular response to starvation (GO:0009267)|immature B cell differentiation (GO:0002327)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell apoptotic process (GO:0002904)|positive regulation of GTPase activity (GO:0043547)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein phosphorylation (GO:0001934)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TGCACATTTGTCTACTGGAAC	0.418																																						uc003kvs.1		NaN																	0				pancreas(1)|skin(1)	2						c.(2068-2070)GAC>GGC		folliculin interacting protein 1 isoform 1							214.0	201.0	205.0					5																	131008068		2203	4300	6503	SO:0001583	missense	96459				regulation of protein phosphorylation	cytoplasm	protein binding	g.chr5:131008068T>C	DQ145719	CCDS34226.1, CCDS34227.1	5q23.3	2014-01-28				ENSG00000217128			29418	protein-coding gene	gene with protein product		610594				11853319, 17028174	Standard	NM_001008738		Approved	KIAA1961		Q8TF40		ENST00000510461.1:c.2069A>G	5.37:g.131008068T>C	ENSP00000421985:p.Asp690Gly					RAPGEF6_uc003kvp.1_Intron|FNIP1_uc003kvt.1_Missense_Mutation_p.D662G|FNIP1_uc010jdm.1_Missense_Mutation_p.D645G	p.D690G	NM_133372	NP_588613	Q8TF40	FNIP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)	14	2211	-		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	690					D6RJH5|Q86T47|Q9BUT0	Missense_Mutation	SNP	ENST00000510461.1	37	c.2069A>G	CCDS34227.1	.	.	.	.	.	.	.	.	.	.	T	13.71	2.317426	0.40996	.	.	ENSG00000217128	ENST00000307968;ENST00000307954;ENST00000544351;ENST00000510461	T;T;T	0.14266	2.52;2.52;2.52	5.86	5.86	0.93980	.	.	.	.	.	T	0.14700	0.0355	L	0.44542	1.39	0.80722	D	1	B;B;B	0.25850	0.136;0.136;0.136	B;B;B	0.26864	0.053;0.074;0.053	T	0.05971	-1.0853	9	0.24483	T	0.36	-3.0044	16.2479	0.82454	0.0:0.0:0.0:1.0	.	690;662;690	A8K8V8;Q8TF40-3;Q8TF40	.;.;FNIP1_HUMAN	G	662;645;442;690	ENSP00000309266:D662G;ENSP00000310453:D645G;ENSP00000421985:D690G	ENSP00000310453:D645G	D	-	2	0	FNIP1	131035967	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.755000	0.55197	2.241000	0.73720	0.533000	0.62120	GAC		0.418	FNIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370077.1		NM_133372		75	38	0	0	0	0.00361	0	75	38		
ARHGAP26	23092	broad.mit.edu	37	5	142513586	142513586	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr5:142513586C>G	ENST00000274498.4	+	19	2131	c.1753C>G	c.(1753-1755)Cgg>Ggg	p.R585G	ARHGAP26_ENST00000378004.3_Missense_Mutation_p.R585G	NM_015071.4	NP_055886.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	585	Ser-rich.				actin cytoskeleton organization (GO:0030036)|filopodium assembly (GO:0046847)|nervous system development (GO:0007399)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)	phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCACCTGTCTCGGAAGAAGAG	0.537																																						uc011dbj.1		NaN																	0				ovary(1)	1						c.(1753-1755)CGG>GGG		GTPase regulator associated with the focal							162.0	148.0	153.0					5																	142513586		2203	4300	6503	SO:0001583	missense	23092				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	g.chr5:142513586C>G	AB014521	CCDS4277.1, CCDS47297.1	5q31	2011-06-29			ENSG00000145819	ENSG00000145819		"""Rho GTPase activating proteins"""	17073	protein-coding gene	gene with protein product	"""GTPase regulator associated with the focal adhesion kinase pp125"""	605370				9858476, 8649427	Standard	NM_001135608		Approved	GRAF, KIAA0621, OPHN1L, OPHN1L1	uc011dbj.2	Q9UNA1	OTTHUMG00000059705	ENST00000274498.4:c.1753C>G	5.37:g.142513586C>G	ENSP00000274498:p.Arg585Gly					ARHGAP26_uc003lmt.2_Missense_Mutation_p.R585G|ARHGAP26_uc003lmw.2_Missense_Mutation_p.R585G	p.R585G	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		19	1788	+		all_hematologic(541;0.0416)	585			Ser-rich.		O75117|Q5D035|Q9BYS6|Q9BYS7|Q9UJ00	Missense_Mutation	SNP	ENST00000274498.4	37	c.1753C>G	CCDS4277.1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.717091	0.68844	.	.	ENSG00000145819	ENST00000274498;ENST00000378004;ENST00000418668	T;T	0.08282	3.11;3.17	5.95	1.55	0.23275	.	0.165679	0.51477	D	0.000091	T	0.08403	0.0209	L	0.43152	1.355	0.44168	D	0.996971	P;P;P	0.48503	0.815;0.911;0.772	B;P;B	0.45660	0.323;0.489;0.42	T	0.36335	-0.9752	10	0.26408	T	0.33	.	7.6524	0.28356	0.2375:0.6158:0.0:0.1468	.	585;158;585	Q9UNA1;B3KT96;Q9UNA1-2	RHG26_HUMAN;.;.	G	585;585;158	ENSP00000274498:R585G;ENSP00000367243:R585G	ENSP00000274498:R585G	R	+	1	2	ARHGAP26	142493779	0.971000	0.33674	0.733000	0.30861	0.990000	0.78478	0.674000	0.25218	0.378000	0.24764	0.655000	0.94253	CGG		0.537	ARHGAP26-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000132744.3		NM_015071		125	41	0	0	0	0.00361	0	125	41		
FAT2	2196	broad.mit.edu	37	5	150947267	150947267	+	Missense_Mutation	SNP	T	T	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr5:150947267T>A	ENST00000261800.5	-	1	1238	c.1226A>T	c.(1225-1227)aAt>aTt	p.N409I		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	409	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTTCGAGCATTAAGTTTAAA	0.537																																						uc003lue.3		NaN																	0				ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(1225-1227)AAT>ATT		FAT tumor suppressor 2 precursor							96.0	92.0	93.0					5																	150947267		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150947267T>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.1226A>T	5.37:g.150947267T>A	ENSP00000261800:p.Asn409Ile					GM2A_uc011dcs.1_Intron|FAT2_uc010jhx.1_Missense_Mutation_p.N409I	p.N409I	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	1239	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	409			Extracellular (Potential).|Cadherin 3.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.1226A>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	T	17.89	3.498534	0.64298	.	.	ENSG00000086570	ENST00000261800	T	0.63255	-0.03	5.59	5.59	0.84812	Cadherin (3);Cadherin-like (1);	0.166949	0.41938	D	0.000788	T	0.78679	0.4321	M	0.90977	3.165	0.49582	D	0.999801	P	0.50710	0.938	P	0.52267	0.694	D	0.84199	0.0449	10	0.72032	D	0.01	.	15.7697	0.78157	0.0:0.0:0.0:1.0	.	409	Q9NYQ8	FAT2_HUMAN	I	409	ENSP00000261800:N409I	ENSP00000261800:N409I	N	-	2	0	FAT2	150927460	1.000000	0.71417	0.006000	0.13384	0.897000	0.52465	4.941000	0.63540	2.135000	0.66039	0.459000	0.35465	AAT		0.537	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1		NM_001447		30	9	0	0	0	0.002445	0	30	9		
CNOT8	9337	broad.mit.edu	37	5	154250228	154250228	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr5:154250228A>G	ENST00000517876.1	+	5	795	c.319A>G	c.(319-321)Atg>Gtg	p.M107V	CNOT8_ENST00000285896.6_Missense_Mutation_p.M107V|CNOT8_ENST00000520671.1_Start_Codon_SNP_p.M1V|CNOT8_ENST00000523698.1_Start_Codon_SNP_p.M1V|CNOT8_ENST00000524105.1_Intron|CNOT8_ENST00000403027.2_Missense_Mutation_p.M107V|CNOT8_ENST00000521450.1_Start_Codon_SNP_p.M1V|CNOT8_ENST00000519404.1_Intron|CNOT8_ENST00000521583.1_Start_Codon_SNP_p.M1V			Q9UFF9	CNOT8_HUMAN	CCR4-NOT transcription complex, subunit 8	107					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|gene silencing by miRNA (GO:0035195)|mRNA metabolic process (GO:0016071)|negative regulation of cell proliferation (GO:0008285)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TAGAGAGGACATGTACTCCCA	0.398																																					NSCLC(140;1804 1895 27149 29895 35312)	uc003lvu.2		NaN																	0					0						c.(319-321)ATG>GTG	Direct_reversal_of_damage	CCR4-NOT transcription complex, subunit 8							128.0	121.0	123.0					5																	154250228		2203	4300	6503	SO:0001583	missense	9337				negative regulation of cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr5:154250228A>G	AF053318	CCDS4329.1, CCDS75361.1	5q31-q33	2008-07-18			ENSG00000155508	ENSG00000155508			9207	protein-coding gene	gene with protein product	"""PGK promoter directed over production"""	603731		POP2		10036195, 10637334	Standard	XM_005268527		Approved	CAF1, hCAF1, CALIF	uc003lvw.3	Q9UFF9	OTTHUMG00000130192	ENST00000517876.1:c.319A>G	5.37:g.154250228A>G	ENSP00000430493:p.Met107Val					CNOT8_uc011ddf.1_Missense_Mutation_p.M1V|CNOT8_uc011ddg.1_Missense_Mutation_p.M1V|CNOT8_uc011ddh.1_Intron|CNOT8_uc003lvv.2_Missense_Mutation_p.M107V|CNOT8_uc010jig.2_Missense_Mutation_p.M1V|CNOT8_uc010jif.2_Missense_Mutation_p.M1V|CNOT8_uc003lvw.2_Missense_Mutation_p.M107V|CNOT8_uc011ddi.1_Missense_Mutation_p.M1V|CNOT8_uc011ddj.1_Intron	p.M107V	NM_004779	NP_004770	Q9UFF9	CNOT8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		5	798	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	107					B0AZS3|B2RAR8|B7Z8R1|D3DQI8|O95709|Q7Z521|Q9H6Y1	Missense_Mutation	SNP	ENST00000517876.1	37	c.319A>G	CCDS4329.1	.	.	.	.	.	.	.	.	.	.	A	16.61	3.171611	0.57584	.	.	ENSG00000155508	ENST00000523698;ENST00000517876;ENST00000520472;ENST00000519211;ENST00000519903;ENST00000521450;ENST00000403027;ENST00000517568;ENST00000285896;ENST00000542339;ENST00000520671;ENST00000521583	T;T;T;T;T;T;T;T;T;T;T	0.20738	2.05;2.05;2.05;2.05;2.05;2.05;2.05;2.05;2.05;2.05;2.05	5.54	5.54	0.83059	Ribonuclease H-like (1);	0.034501	0.85682	N	0.000000	T	0.32164	0.0820	M	0.82716	2.605	0.80722	D	1	B	0.25850	0.136	B	0.27715	0.082	T	0.09997	-1.0649	10	0.44086	T	0.13	-13.1979	15.6768	0.77332	1.0:0.0:0.0:0.0	.	107	Q9UFF9	CNOT8_HUMAN	V	1;107;107;107;1;1;107;107;107;84;1;1	ENSP00000428565:M1V;ENSP00000430493:M107V;ENSP00000430215:M107V;ENSP00000429108:M107V;ENSP00000428359:M1V;ENSP00000431034:M1V;ENSP00000384747:M107V;ENSP00000428090:M107V;ENSP00000285896:M107V;ENSP00000428305:M1V;ENSP00000429882:M1V	ENSP00000285896:M107V	M	+	1	0	CNOT8	154230421	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.731000	0.91529	2.102000	0.63906	0.454000	0.30748	ATG		0.398	CNOT8-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377449.1		NM_004779		16	7	0	0	0	0.006122	0	16	7		
HIST1H2AG	8969	broad.mit.edu	37	6	27101228	27101228	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:27101228G>A	ENST00000359193.2	+	1	397	c.378G>A	c.(376-378)aaG>aaA	p.K126K	HIST1H2BJ_ENST00000541790.1_5'Flank|HIST1H2BJ_ENST00000339812.2_5'Flank|HIST1H2BJ_ENST00000607124.1_5'Flank	NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	126						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	17						GCCACCACAAGGCGAAGGGCA	0.522																																						uc003niw.2		NaN																	0					0						c.(376-378)AAG>AAA		histone cluster 1, H2ag							70.0	67.0	68.0					6																	27101228		2203	4300	6503	SO:0001819	synonymous_variant	8969				nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	g.chr6:27101228G>A	L19778	CCDS4619.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000196787	ENSG00000196787		"""Histones / Replication-dependent"""	4737	protein-coding gene	gene with protein product		615012	"""H2A histone family, member P"", ""histone 1, H2ag"""	H2AFP		8179821, 12408966	Standard	NM_021064		Approved	pH2A/f, H2A/p, H2A.1b	uc003niw.3	P0C0S8	OTTHUMG00000014469	ENST00000359193.2:c.378G>A	6.37:g.27101228G>A						HIST1H2BJ_uc003niu.1_5'Flank|HIST1H2BJ_uc003niv.2_5'Flank	p.K126K	NM_021064	NP_066408	P0C0S8	H2A1_HUMAN			1	412	+			126					P02261|Q2M1R2|Q76PA6	Silent	SNP	ENST00000359193.2	37	c.378G>A	CCDS4619.1																																																																																				0.522	HIST1H2AG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040137.1		NM_021064		32	61	0	0	0	0.004289	0	32	61		
TRIM31	11074	broad.mit.edu	37	6	30071549	30071549	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:30071549C>T	ENST00000376734.3	-	9	1167	c.1042G>A	c.(1042-1044)Ggg>Agg	p.G348R	TRIM31_ENST00000485864.1_5'Flank|TRIM31_ENST00000540829.1_Missense_Mutation_p.G348R|TRIM31-AS1_ENST00000440874.1_RNA	NM_007028.3	NP_008959.3	Q9BZY9	TRI31_HUMAN	tripartite motif containing 31	348					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral release from host cell (GO:1902186)	mitochondrion (GO:0005739)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(2)	15						TTTGGTGGCCCCGATGTAGTT	0.567																																						uc003npg.1		NaN																	0				lung(1)	1						c.(1042-1044)GGG>AGG		tripartite motif protein 31							114.0	124.0	120.0					6																	30071549		1508	2709	4217	SO:0001583	missense	11074					mitochondrion	ligase activity|zinc ion binding	g.chr6:30071549C>T	AF230386	CCDS34374.1	6p21.3	2013-01-09	2011-01-25		ENSG00000204616	ENSG00000204616		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16289	protein-coding gene	gene with protein product		609316	"""tripartite motif-containing 31"""			11331580	Standard	XM_006714977		Approved	RNF, HCGI, C6orf13, HCG1	uc003npg.1	Q9BZY9	OTTHUMG00000031064	ENST00000376734.3:c.1042G>A	6.37:g.30071549C>T	ENSP00000365924:p.Gly348Arg					TRIM31_uc003npi.3_RNA	p.G348R	NM_007028	NP_008959	Q9BZY9	TRI31_HUMAN			9	1152	-			348					A6NLX6|A9R9Q4|Q53H52|Q5RI37|Q5SRJ7|Q5SRJ8|Q5SS28|Q96AK4|Q96AP8|Q99579|Q9BZY8	Missense_Mutation	SNP	ENST00000376734.3	37	c.1042G>A	CCDS34374.1	.	.	.	.	.	.	.	.	.	.	C	7.522	0.656910	0.14580	.	.	ENSG00000204616	ENST00000376734;ENST00000376728;ENST00000540829	T;T	0.69040	-0.37;-0.37	2.02	1.14	0.20703	.	.	.	.	.	T	0.18841	0.0452	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.20107	-1.0285	9	0.27082	T	0.32	.	4.7179	0.12904	0.0:0.8107:0.0:0.1893	.	348	Q9BZY9	TRI31_HUMAN	R	348	ENSP00000365924:G348R;ENSP00000444311:G348R	ENSP00000365918:G348R	G	-	1	0	TRIM31	30179528	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.151000	0.10175	0.404000	0.25506	-0.233000	0.12211	GGG		0.567	TRIM31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076081.2				42	128	0	0	0	0.00361	0	42	128		
MDC1	9656	broad.mit.edu	37	6	30672554	30672554	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:30672554G>T	ENST00000376406.3	-	10	5053	c.4406C>A	c.(4405-4407)cCt>cAt	p.P1469H	MDC1_ENST00000376405.2_Missense_Mutation_p.P1205H|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1469	Interaction with the PRKDC complex.|Pro-rich.				DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						CTGAGACGTAGGCTCAGGGGT	0.562								Other conserved DNA damage response genes																														uc003nrg.3		NaN																	0				breast(2)|ovary(1)|kidney(1)	4						c.(4405-4407)CCT>CAT	Other_conserved_DNA_damage_response_genes	mediator of DNA-damage checkpoint 1							109.0	122.0	118.0					6																	30672554		2203	4300	6503	SO:0001583	missense	9656				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	g.chr6:30672554G>T	D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.4406C>A	6.37:g.30672554G>T	ENSP00000365588:p.Pro1469His					MDC1_uc003nrf.3_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.P1076H	p.P1469H	NM_014641	NP_055456	Q14676	MDC1_HUMAN			10	4846	-			1469			Pro-rich.|Interaction with the PRKDC complex.		A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	c.4406C>A	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	G	11.07	1.531228	0.27387	.	.	ENSG00000137337	ENST00000376406;ENST00000376405;ENST00000429610;ENST00000422104	T;T	0.13196	2.61;2.61	4.37	2.47	0.30058	.	.	.	.	.	T	0.07324	0.0185	L	0.39397	1.21	0.09310	N	1	P;B	0.40794	0.729;0.124	P;B	0.45794	0.493;0.11	T	0.15435	-1.0437	9	0.72032	D	0.01	-7.9124	10.6799	0.45809	0.0:0.3768:0.6232:0.0	.	1205;1469	Q14676-2;Q14676	.;MDC1_HUMAN	H	1469;1205;1182;1035	ENSP00000365588:P1469H;ENSP00000365587:P1205H	ENSP00000365587:P1205H	P	-	2	0	MDC1	30780533	0.000000	0.05858	0.001000	0.08648	0.058000	0.15608	0.127000	0.15790	0.530000	0.28619	0.449000	0.29647	CCT		0.562	MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1		NM_014641		81	108	1	0	4.21773e-46	0.00361	4.864e-46	81	108		
HLA-C	3107	broad.mit.edu	37	6	31239079	31239079	+	Silent	SNP	G	G	A	rs45558335		TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:31239079G>A	ENST00000376228.5	-	3	404	c.390C>T	c.(388-390)gaC>gaT	p.D130D	HLA-C_ENST00000383329.3_Silent_p.D130D	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	130	Alpha-2.				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 exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						GGAGGCGCCCGTCGGGCCCCA	0.741																																						uc003nsy.2		NaN																	0					0						c.(388-390)GAC>GAT		major histocompatibility complex, class I, C							26.0	22.0	24.0					6																	31239079		2142	4169	6311	SO:0001819	synonymous_variant	3107				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex		g.chr6:31239079G>A	M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4933	protein-coding gene	gene with protein product		142840	"""psoriasis susceptibility 1"""	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.390C>T	6.37:g.31239079G>A						HLA-C_uc011dnj.1_Silent_p.D102D|HLA-C_uc003nsx.2_Silent_p.D9D|HLA-C_uc003nsz.2_Silent_p.D130D|HLA-C_uc010jsl.2_Silent_p.D130D|HLA-C_uc003nta.2_Silent_p.D130D|HLA-C_uc003ntb.2_Intron|HLA-C_uc003ntc.1_Intron|HLA-B_uc010jsm.1_Intron|HLA-B_uc011dnk.1_Intron|HLA-C_uc011dnl.1_Silent_p.D9D|HLA-B_uc003ntf.2_Silent_p.D130D	p.D130D	NM_002117	NP_002108	Q9TNN7	1C05_HUMAN			3	397	-			130			Extracellular (Potential).|Alpha-2.		O02864|O02958|Q29643|Q9MY30	Silent	SNP	ENST00000376228.5	37	c.390C>T	CCDS34393.1	.	.	.	.	.	.	.	.	.	.	.	10.11	1.260874	0.23051	.	.	ENSG00000204525	ENST00000415537	.	.	.	2.81	1.94	0.25998	.	.	.	.	.	T	0.52041	0.1710	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57260	-0.7842	5	0.87932	D	0	.	8.185	0.31333	0.1294:0.0:0.8706:0.0	.	.	.	.	W	130	.	ENSP00000365412:R125W	R	-	1	2	HLA-C	31347058	0.000000	0.05858	0.033000	0.17914	0.016000	0.09150	-0.403000	0.07214	0.750000	0.32877	-0.680000	0.03767	CGG		0.741	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076281.3		NM_002117		25	190	0	0	0	0.00361	0	25	190		
NOTCH4	4855	broad.mit.edu	37	6	32169985	32169985	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:32169985G>T	ENST00000375023.3	-	21	3761	c.3623C>A	c.(3622-3624)cCa>cAa	p.P1208Q		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1208					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CCAGGGGTCTGGGACTCCCAG	0.637																																						uc003obb.2		NaN																	0				lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						c.(3622-3624)CCA>CAA		notch4 preproprotein							61.0	68.0	65.0					6																	32169985		1509	2709	4218	SO:0001583	missense	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32169985G>T		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.3623C>A	6.37:g.32169985G>T	ENSP00000364163:p.Pro1208Gln					NOTCH4_uc003oba.2_5'UTR|NOTCH4_uc011dpu.1_Intron|NOTCH4_uc011dpv.1_Intron	p.P1208Q	NM_004557	NP_004548	Q99466	NOTC4_HUMAN			21	3762	-			1208			LNR 1.|Extracellular (Potential).		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.3623C>A	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	G	14.73	2.622023	0.46840	.	.	ENSG00000204301	ENST00000375023	T	0.80653	-1.4	4.71	3.77	0.43336	Notch domain (2);	0.000000	0.44902	D	0.000410	T	0.46678	0.1405	N	0.21373	0.66	0.80722	D	1	B	0.26445	0.149	B	0.27076	0.076	T	0.43048	-0.9415	10	0.21540	T	0.41	.	4.9241	0.13885	0.1192:0.0:0.6804:0.2004	.	1208	Q99466	NOTC4_HUMAN	Q	1208	ENSP00000364163:P1208Q	ENSP00000364163:P1208Q	P	-	2	0	NOTCH4	32277963	0.429000	0.25530	1.000000	0.80357	0.989000	0.77384	1.137000	0.31479	1.072000	0.40860	0.561000	0.74099	CCA		0.637	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2				79	114	1	0	2.84431e-33	0.00361	3.22806e-33	79	114		
ITPR3	3710	broad.mit.edu	37	6	33623613	33623613	+	Silent	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:33623613T>C	ENST00000374316.5	+	4	1291	c.231T>C	c.(229-231)acT>acC	p.T77T	ITPR3_ENST00000605930.1_Silent_p.T77T			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	77					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CCAAGCAGACTAAGCAGGACA	0.572																																						uc011drk.1		NaN																	0				ovary(6)|lung(5)|central_nervous_system(5)|breast(2)|kidney(1)	19						c.(229-231)ACT>ACC		inositol 1,4,5-triphosphate receptor, type 3							133.0	105.0	114.0					6																	33623613		2203	4300	6503	SO:0001819	synonymous_variant	3710				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	g.chr6:33623613T>C	D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.231T>C	6.37:g.33623613T>C							p.T77T	NM_002224	NP_002215	Q14573	ITPR3_HUMAN			3	450	+			77			Cytoplasmic (Potential).		Q14649|Q5TAQ2	Silent	SNP	ENST00000374316.5	37	c.231T>C	CCDS4783.1																																																																																				0.572	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2		NM_002224		52	71	0	0	0	0.00361	0	52	71		
STK38	11329	broad.mit.edu	37	6	36483157	36483157	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:36483157G>A	ENST00000229812.7	-	7	912	c.627C>T	c.(625-627)atC>atT	p.I209I		NM_007271.2	NP_009202.1			serine/threonine kinase 38											NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGTCTCTGTGGATGAATCCAA	0.433																																					Colon(180;997 3561 16158)	uc003omg.2		NaN																	0				ovary(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	6						c.(625-627)ATC>ATT		serine/threonine kinase 38							253.0	215.0	228.0					6																	36483157		2203	4300	6503	SO:0001819	synonymous_variant	11329				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity	g.chr6:36483157G>A		CCDS4822.1	6p21	2006-10-06			ENSG00000112079	ENSG00000112079			17847	protein-coding gene	gene with protein product		606964				7761441	Standard	NM_007271		Approved	NDR	uc003omh.3	Q15208	OTTHUMG00000014598	ENST00000229812.7:c.627C>T	6.37:g.36483157G>A						STK38_uc003omh.2_Silent_p.I209I|STK38_uc003omi.2_Silent_p.I209I	p.I209I	NM_007271	NP_009202	Q15208	STK38_HUMAN			6	1215	-			209			Protein kinase.			Silent	SNP	ENST00000229812.7	37	c.627C>T	CCDS4822.1																																																																																				0.433	STK38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040346.1		NM_007271		32	36	0	0	0	0.00623	0	32	36		
TAF8	129685	broad.mit.edu	37	6	42019188	42019188	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:42019188G>C	ENST00000372977.3	+	2	157	c.139G>C	c.(139-141)Gag>Cag	p.E47Q	CCND3_ENST00000372988.4_5'Flank|CCND3_ENST00000511686.1_5'Flank|TAF8_ENST00000472818.1_Missense_Mutation_p.E47Q|TAF8_ENST00000482926.1_3'UTR|TAF8_ENST00000372982.4_Missense_Mutation_p.E47Q|TAF8_ENST00000456846.2_Missense_Mutation_p.E47Q|CCND3_ENST00000511642.1_5'Flank|TAF8_ENST00000482432.1_5'UTR|CCND3_ENST00000510503.1_5'Flank|TAF8_ENST00000465926.1_5'UTR|CCND3_ENST00000415497.2_5'Flank|TAF8_ENST00000494547.1_Missense_Mutation_p.E47Q|TAF8_ENST00000372978.3_Missense_Mutation_p.E47Q	NM_138572.2	NP_612639.2	Q7Z7C8	TAF8_HUMAN	TAF8 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 43kDa	47	Histone-fold.				cell differentiation (GO:0030154)|inner cell mass cell proliferation (GO:0001833)|maintenance of protein location in nucleus (GO:0051457)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fat cell differentiation (GO:0045598)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|transcription factor TFIID complex (GO:0005669)				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179)			CTTGCTGACAGAGGCAGGGTT	0.537																																						uc003ors.2		NaN																	0				ovary(1)	1						c.(139-141)GAG>CAG		TBP-associated factor 8							85.0	90.0	88.0					6																	42019188		2125	4254	6379	SO:0001583	missense	129685				cell differentiation|maintenance of protein location in nucleus|positive regulation of transcription, DNA-dependent|regulation of fat cell differentiation|transcription, DNA-dependent	perinuclear region of cytoplasm|transcription factor TFIID complex	DNA binding|protein binding	g.chr6:42019188G>C	AK057383	CCDS43462.1	6p21.1	2008-10-23	2007-07-30	2007-07-30	ENSG00000137413	ENSG00000137413			17300	protein-coding gene	gene with protein product		609514	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 45/50kDa"", ""taube nuss homolog (mouse)"""	TBN			Standard	NM_138572		Approved	FLJ32821, TAF(II)43	uc003ors.3	Q7Z7C8	OTTHUMG00000014692	ENST00000372977.3:c.139G>C	6.37:g.42019188G>C	ENSP00000362068:p.Glu47Gln					CCND3_uc003orp.2_5'Flank|CCND3_uc011duk.1_5'Flank|CCND3_uc011dum.1_5'Flank|TAF8_uc003orr.2_Missense_Mutation_p.E47Q|TAF8_uc003ort.2_Missense_Mutation_p.E47Q|TAF8_uc003oru.1_Missense_Mutation_p.E47Q|TAF8_uc003orv.1_Missense_Mutation_p.E47Q|TAF8_uc011dun.1_5'UTR	p.E47Q	NM_138572	NP_612639	Q7Z7C8	TAF8_HUMAN	STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00179)		2	168	+	Colorectal(47;0.196)		47			Histone-fold.		Q5T0K1|Q8N4R9|Q96M52	Missense_Mutation	SNP	ENST00000372977.3	37	c.139G>C	CCDS43462.1	.	.	.	.	.	.	.	.	.	.	G	34	5.386813	0.95967	.	.	ENSG00000137413	ENST00000372978;ENST00000456846;ENST00000494547;ENST00000372982;ENST00000372977;ENST00000472818	T;T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85;0.85	6.07	5.21	0.72293	Histone-fold (2);Bromodomain transcription factor (2);	0.186133	0.56097	D	0.000028	T	0.52386	0.1731	M	0.62088	1.915	0.80722	D	1	D;P;D;P	0.56968	0.972;0.672;0.978;0.856	P;B;P;P	0.60236	0.797;0.434;0.871;0.578	T	0.55023	-0.8205	10	0.44086	T	0.13	-26.0546	15.0158	0.71584	0.0684:0.0:0.9316:0.0	.	47;47;47;47	Q7Z7C8-2;Q7Z7C8-4;Q7Z7C8;C9J7M8	.;.;TAF8_HUMAN;.	Q	47	ENSP00000362069:E47Q;ENSP00000411900:E47Q;ENSP00000417867:E47Q;ENSP00000362073:E47Q;ENSP00000362068:E47Q;ENSP00000417760:E47Q	ENSP00000362068:E47Q	E	+	1	0	TAF8	42127166	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.353000	0.97080	1.586000	0.49944	0.655000	0.94253	GAG		0.537	TAF8-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000357901.1		NM_138572		23	74	0	0	0	0.002299	0	23	74		
CUL9	23113	broad.mit.edu	37	6	43156452	43156452	+	Splice_Site	SNP	A	A	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:43156452A>C	ENST00000252050.4	+	8	2263	c.2179A>C	c.(2179-2181)Aga>Cga	p.R727R	CUL9_ENST00000354495.3_Splice_Site_p.R617R|CUL9_ENST00000372647.2_Splice_Site_p.R727R	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	727					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CAGATCGCTGAGGTTAGCATA	0.552																																						uc003ouk.2		NaN																	0				ovary(5)|lung(3)|skin(2)|breast(1)|central_nervous_system(1)	12						c.(2179-2181)AGA>CGA		p53-associated parkin-like cytoplasmic protein							61.0	55.0	57.0					6																	43156452		2203	4300	6503	SO:0001630	splice_region_variant	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43156452A>C	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.2180+1A>C	6.37:g.43156452A>C						CUL9_uc003ouj.1_3'UTR|CUL9_uc003oul.2_Silent_p.R727R|CUL9_uc010jyk.2_5'UTR|CUL9_uc003oum.1_3'UTR	p.R727R	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN			8	2254	+			727					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Silent	SNP	ENST00000252050.4	37	c.2179A>C	CCDS4890.1																																																																																				0.552	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2		NM_015089	Silent	34	67	0	0	0	0.003214	0	34	67		
POLR1C	9533	broad.mit.edu	37	6	43488129	43488129	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:43488129G>A	ENST00000372389.3	+	6	707	c.619G>A	c.(619-621)Gaa>Aaa	p.E207K	POLR1C_ENST00000304004.3_Missense_Mutation_p.E207K|RP3-337H4.9_ENST00000607571.1_RNA|POLR1C_ENST00000372344.2_Missense_Mutation_p.E207K	NM_203290.2	NP_976035.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide C, 30kDa	207					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			GCCTGGCCAAGAAATTGACCT	0.562																																						uc003ovn.2		NaN																	0					0						c.(619-621)GAA>AAA		RNA polymerase I subunit isoform 1							88.0	90.0	89.0					6																	43488129		2203	4300	6503	SO:0001583	missense	9533				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity	g.chr6:43488129G>A	AF008442	CCDS4901.1	6p21.1	2013-01-21			ENSG00000171453	ENSG00000171453		"""RNA polymerase subunits"""	20194	protein-coding gene	gene with protein product		610060				11042152, 12446911	Standard	NM_203290		Approved	RPA40, RPA39, RPA5, RPAC1	uc003ovn.3	O15160	OTTHUMG00000014739	ENST00000372389.3:c.619G>A	6.37:g.43488129G>A	ENSP00000361465:p.Glu207Lys					POLR1C_uc003ovo.1_Missense_Mutation_p.E207K	p.E207K	NM_203290	NP_976035	O15160	RPAC1_HUMAN	Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)		6	676	+	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		207					O75395|Q5JTE3	Missense_Mutation	SNP	ENST00000372389.3	37	c.619G>A	CCDS4901.1	.	.	.	.	.	.	.	.	.	.	G	34	5.357868	0.95854	.	.	ENSG00000171453	ENST00000372389;ENST00000372373;ENST00000372344;ENST00000304004	D;D;T	0.84800	-1.81;-1.9;-0.82	5.53	5.53	0.82687	DNA-directed RNA polymerase, RpoA/D/Rpb3-type (1);DNA-directed RNA polymerase, insert domain (3);DNA-directed RNA polymerase, dimerisation (1);DNA-directed RNA polymerase, RBP11-like (1);	0.000000	0.85682	D	0.000000	D	0.89382	0.6699	L	0.54863	1.705	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.991	D	0.87556	0.2468	10	0.39692	T	0.17	-29.9868	19.4658	0.94939	0.0:0.0:1.0:0.0	.	207;207	O15160-2;O15160	.;RPAC1_HUMAN	K	207;121;207;207	ENSP00000361465:E207K;ENSP00000361419:E207K;ENSP00000307212:E207K	ENSP00000307212:E207K	E	+	1	0	POLR1C	43596107	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.750000	0.98875	2.599000	0.87857	0.655000	0.94253	GAA		0.562	POLR1C-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040652.3		NM_004875		22	107	0	0	0	0.007291	0	22	107		
POLH	5429	broad.mit.edu	37	6	43571701	43571701	+	Silent	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:43571701C>T	ENST00000372236.4	+	7	1132	c.837C>T	c.(835-837)acC>acT	p.T279T	POLH_ENST00000372226.1_Silent_p.T279T|POLH_ENST00000535400.1_Silent_p.T217T	NM_006502.2	NP_006493.1	O75417	DPOLQ_HUMAN	polymerase (DNA directed), eta	0	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			GTGAACTGACCCAGTTCACTG	0.408								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum																													uc003ovq.3		NaN																	0				breast(2)	2						c.(835-837)ACC>ACT	DNA_polymerases_(catalytic_subunits)	DNA-directed DNA polymerase eta							123.0	122.0	123.0					6																	43571701		2203	4300	6503	SO:0001819	synonymous_variant	5429	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr6:43571701C>T	AB024313	CCDS4902.1	6p21	2014-09-17			ENSG00000170734	ENSG00000170734			9181	protein-coding gene	gene with protein product		603968				10385124, 10398605	Standard	NM_006502		Approved	RAD30A, XP-V	uc003ovq.4	Q9Y253	OTTHUMG00000014743	ENST00000372236.4:c.837C>T	6.37:g.43571701C>T						POLH_uc010jyu.2_Silent_p.T155T|POLH_uc011dvl.1_RNA|POLH_uc003ovr.3_Silent_p.T180T	p.T279T	NM_006502	NP_006493	Q9Y253	POLH_HUMAN	all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)		7	1141	+	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		279					O95160|Q6VMB5	Silent	SNP	ENST00000372236.4	37	c.837C>T	CCDS4902.1																																																																																				0.408	POLH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040666.1		NM_006502		14	23	0	0	0	0.007413	0	14	23		
IBTK	25998	broad.mit.edu	37	6	82936933	82936933	+	Silent	SNP	T	T	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:82936933T>G	ENST00000306270.7	-	5	1179	c.630A>C	c.(628-630)ggA>ggC	p.G210G	IBTK_ENST00000503631.1_Silent_p.G210G|IBTK_ENST00000510291.1_Silent_p.G210G	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	210					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		CATCTCCATGTCCTAATCGCC	0.378																																						uc003pjl.1		NaN																	0				ovary(2)|central_nervous_system(2)	4						c.(628-630)GGA>GGC		inhibitor of Bruton's tyrosine kinase							119.0	117.0	118.0					6																	82936933		2203	4300	6503	SO:0001819	synonymous_variant	25998				negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity	g.chr6:82936933T>G	AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	17853	protein-coding gene	gene with protein product		606457	"""Bruton agammaglobulinemia tyrosine kinase inhibitor"""	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.630A>C	6.37:g.82936933T>G						IBTK_uc011dyv.1_Silent_p.G210G|IBTK_uc011dyw.1_Silent_p.G210G|IBTK_uc010kbi.1_5'UTR|IBTK_uc003pjm.2_Silent_p.G210G	p.G210G	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0901)	5	1157	-		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)	210			RCC1 2.		Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Silent	SNP	ENST00000306270.7	37	c.630A>C	CCDS34490.1																																																																																				0.378	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041337.2		NM_015525		26	47	0	0	0	0.002445	0	26	47		
MDN1	23195	broad.mit.edu	37	6	90353822	90353822	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:90353822A>G	ENST00000369393.3	-	102	16808	c.16693T>C	c.(16693-16695)Tac>Cac	p.Y5565H	MDN1_ENST00000428876.1_Missense_Mutation_p.Y5565H			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	5565	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ATGATATAGTATGGGAATGGG	0.448																																						uc003pnn.1		NaN																	0				ovary(8)|skin(2)	10						c.(16693-16695)TAC>CAC		MDN1, midasin homolog							187.0	166.0	173.0					6																	90353822		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90353822A>G	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.16693T>C	6.37:g.90353822A>G	ENSP00000358400:p.Tyr5565His						p.Y5565H	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	102	16809	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	5565			VWFA.		O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.16693T>C	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	A	16.43	3.120436	0.56613	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.23754	1.89;1.89	5.83	5.83	0.93111	von Willebrand factor, type A (1);	0.059225	0.64402	D	0.000002	T	0.18759	0.0450	M	0.67397	2.05	0.35914	D	0.831331	B	0.26147	0.143	B	0.22152	0.038	T	0.06267	-1.0836	10	0.62326	D	0.03	.	16.1988	0.82053	1.0:0.0:0.0:0.0	.	5565	Q9NU22	MDN1_HUMAN	H	5565	ENSP00000358400:Y5565H;ENSP00000413970:Y5565H	ENSP00000358400:Y5565H	Y	-	1	0	MDN1	90410543	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.678000	0.91211	2.230000	0.72887	0.454000	0.30748	TAC		0.448	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2				12	46	0	0	0	0.00245	0	12	46		
MDN1	23195	broad.mit.edu	37	6	90422326	90422326	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:90422326G>A	ENST00000369393.3	-	48	7513	c.7398C>T	c.(7396-7398)aaC>aaT	p.N2466N	MDN1_ENST00000428876.1_Silent_p.N2466N			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2466					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TGCTCATCCTGTTGAGACAAT	0.468																																						uc003pnn.1		NaN																	0				ovary(8)|skin(2)	10						c.(7396-7398)AAC>AAT		MDN1, midasin homolog							133.0	135.0	134.0					6																	90422326		2203	4300	6503	SO:0001819	synonymous_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90422326G>A	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.7398C>T	6.37:g.90422326G>A							p.N2466N	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	48	7514	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	2466					O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	c.7398C>T	CCDS5024.1																																																																																				0.468	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2				41	52	0	0	0	0.00361	0	41	52		
MAP3K7	6885	broad.mit.edu	37	6	91254347	91254347	+	Nonsense_Mutation	SNP	A	A	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:91254347A>C	ENST00000369329.3	-	12	1376	c.1215T>G	c.(1213-1215)taT>taG	p.Y405*	MAP3K7_ENST00000369325.3_Nonsense_Mutation_p.Y405*|MAP3K7_ENST00000369320.1_Intron|MAP3K7_ENST00000369327.3_Intron|MAP3K7_ENST00000369332.3_Intron	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	405					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		TAGGCTTGGAATAGGCTGCAA	0.388																																						uc003pnz.1		NaN																	0				ovary(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)	6						c.(1213-1215)TAT>TAG		mitogen-activated protein kinase kinase kinase 7							109.0	105.0	106.0					6																	91254347		2203	4300	6503	SO:0001587	stop_gained	6885				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding|protein binding	g.chr6:91254347A>C	AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.1215T>G	6.37:g.91254347A>C	ENSP00000358335:p.Tyr405*					MAP3K7_uc003poa.1_Nonsense_Mutation_p.Y405*|MAP3K7_uc003pob.1_Intron|MAP3K7_uc003poc.1_Intron	p.Y405*	NM_145331	NP_663304	O43318	M3K7_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)	12	1377	-		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)	405					B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	Nonsense_Mutation	SNP	ENST00000369329.3	37	c.1215T>G	CCDS5028.1	.	.	.	.	.	.	.	.	.	.	A	37	6.139271	0.97320	.	.	ENSG00000135341	ENST00000369329;ENST00000369325	.	.	.	5.57	5.57	0.84162	.	0.565010	0.20743	N	0.086512	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.7291	0.77788	1.0:0.0:0.0:0.0	.	.	.	.	X	405	.	ENSP00000358331:Y405X	Y	-	3	2	MAP3K7	91311068	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	2.521000	0.45563	2.127000	0.65507	0.402000	0.26972	TAT		0.388	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041530.1		NM_145331		9	34	0	0	0	0.006214	0	9	34		
AIM1	202	broad.mit.edu	37	6	107011686	107011686	+	Silent	SNP	T	T	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:107011686T>G	ENST00000369066.3	+	19	5449	c.4962T>G	c.(4960-4962)tcT>tcG	p.S1654S	AIM1_ENST00000535438.1_Silent_p.S473S	NM_001624.2	NP_001615	Q9UMX9	S45A2_HUMAN	absent in melanoma 1	0					developmental pigmentation (GO:0048066)|melanin biosynthetic process (GO:0042438)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TGGTAACATCTGGCTCCAAGC	0.493																																						uc003prh.2		NaN																	0				breast(4)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|skin(1)	9						c.(4960-4962)TCT>TCG		absent in melanoma 1							80.0	74.0	76.0					6																	107011686		2203	4300	6503	SO:0001819	synonymous_variant	202						sugar binding	g.chr6:107011686T>G	U83115	CCDS34506.1	6q21	2014-01-29			ENSG00000112297	ENSG00000112297			356	protein-coding gene	gene with protein product	"""suppression of tumorigenicity 4"", ""beta-gamma crystallin domain containing 1"""	601797	"""suppression of tumorigenicity 4 (malignant melanoma)"""	ST4		1680551, 12693952	Standard	NM_001624		Approved	CRYBG1	uc003prh.3	Q9Y4K1	OTTHUMG00000015302	ENST00000369066.3:c.4962T>G	6.37:g.107011686T>G						AIM1_uc003pri.2_Silent_p.S458S	p.S1654S	NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)	19	5449	+	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	1654			Ricin B-type lectin.		Q6P2P0|Q9BTM3	Silent	SNP	ENST00000369066.3	37	c.4962T>G	CCDS34506.1																																																																																				0.493	AIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041669.1				30	36	0	0	0	0.002522	0	30	36		
SASH1	23328	broad.mit.edu	37	6	148865308	148865308	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:148865308C>A	ENST00000367467.3	+	18	3177	c.2702C>A	c.(2701-2703)tCt>tAt	p.S901Y		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	901					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		AAGAGATTTTCTGAACCTCAG	0.537																																						uc003qme.1		NaN																	0				central_nervous_system(1)	1						c.(2701-2703)TCT>TAT		SAM and SH3 domain containing 1							111.0	125.0	120.0					6																	148865308		2203	4300	6503	SO:0001583	missense	23328						protein binding	g.chr6:148865308C>A	AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.2702C>A	6.37:g.148865308C>A	ENSP00000356437:p.Ser901Tyr					SASH1_uc011eeb.1_Missense_Mutation_p.S662Y|SASH1_uc003qmf.1_Missense_Mutation_p.S311Y	p.S901Y	NM_015278	NP_056093	O94885	SASH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)	18	3177	+		Ovarian(120;0.0169)	901					Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	ENST00000367467.3	37	c.2702C>A	CCDS5212.1	.	.	.	.	.	.	.	.	.	.	C	12.39	1.925018	0.34002	.	.	ENSG00000111961	ENST00000367467;ENST00000535767;ENST00000537769	T	0.41758	0.99	5.36	3.59	0.41128	.	0.455403	0.26642	N	0.023254	T	0.12689	0.0308	L	0.27053	0.805	0.09310	N	1	P;P	0.44090	0.826;0.651	B;B	0.37833	0.259;0.259	T	0.03268	-1.1054	10	0.87932	D	0	-1.5019	8.3167	0.32104	0.0:0.7607:0.0:0.2393	.	882;901	Q6P4R9;O94885	.;SASH1_HUMAN	Y	901;662;311	ENSP00000356437:S901Y	ENSP00000356437:S901Y	S	+	2	0	SASH1	148907001	0.388000	0.25197	0.004000	0.12327	0.924000	0.55760	1.872000	0.39549	0.653000	0.30826	0.650000	0.86243	TCT		0.537	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042619.1		NM_015278		30	102	1	0	4.65686e-17	0.003755	5.10945e-17	30	102		
CNKSR3	154043	broad.mit.edu	37	6	154762424	154762424	+	Splice_Site	SNP	A	A	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:154762424A>C	ENST00000607772.1	-	4	1052		c.e4+1		CNKSR3_ENST00000479339.1_Splice_Site	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3						negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		CATACTACTGACCTTCTGGAC	0.378																																						uc003qpy.2		NaN																	0				ovary(2)|breast(1)|skin(1)	4						c.e4+1		CNKSR family member 3							107.0	105.0	105.0					6																	154762424		2203	4300	6503	SO:0001630	splice_region_variant	154043				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane		g.chr6:154762424A>C	AK055911	CCDS5246.1	6q25.2	2013-01-10	2005-04-11	2005-04-11	ENSG00000153721	ENSG00000153721		"""Sterile alpha motif (SAM) domain containing"""	23034	protein-coding gene	gene with protein product			"""membrane associated guanylate kinase interacting protein-like 1"""	MAGI1			Standard	NM_173515		Approved	FLJ31349		Q6P9H4	OTTHUMG00000015873	ENST00000607772.1:c.507+1T>G	6.37:g.154762424A>C							p.K169_splice	NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)	4	1012	-		Ovarian(120;0.196)						Q5SGD5|Q96N65	Splice_Site	SNP	ENST00000607772.1	37	c.507_splice	CCDS5246.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.507443	0.85282	.	.	ENSG00000153721	ENST00000367213;ENST00000479339	.	.	.	5.91	5.91	0.95273	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3421	0.83085	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CNKSR3	154804116	1.000000	0.71417	0.971000	0.41717	0.967000	0.64934	8.946000	0.92992	2.261000	0.74972	0.533000	0.62120	.		0.378	CNKSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042792.2		NM_173515	Intron	5	28	0	0	0	0.001984	0	5	28		
EIF2AK1	27102	broad.mit.edu	37	7	6086641	6086641	+	Silent	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr7:6086641T>C	ENST00000199389.6	-	5	677	c.531A>G	c.(529-531)ggA>ggG	p.G177G	EIF2AK1_ENST00000495565.1_5'Flank|RN7SL851P_ENST00000480512.2_RNA|EIF2AK1_ENST00000536084.1_Silent_p.G53G	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	177	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of hemoglobin biosynthetic process (GO:0046986)|negative regulation of translational initiation by iron (GO:0045993)|protein autophosphorylation (GO:0046777)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|response to external stimulus (GO:0009605)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		CTCTTCCGTATCCACCTTTTC	0.333																																						uc003spp.2		NaN																	0				upper_aerodigestive_tract(1)|stomach(1)|lung(1)|central_nervous_system(1)	4						c.(529-531)GGA>GGG		eukaryotic translation initiation factor 2-alpha							125.0	119.0	121.0					7																	6086641		2202	4300	6502	SO:0001819	synonymous_variant	27102				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity	g.chr7:6086641T>C	BC006524	CCDS5345.1	7p22	2005-01-20			ENSG00000086232	ENSG00000086232			24921	protein-coding gene	gene with protein product	"""heme regulated initiation factor 2 alpha kinase"""	613635				7709427, 10718198	Standard	NM_014413		Approved	HRI, KIAA1369	uc003spp.3	Q9BQI3	OTTHUMG00000090689	ENST00000199389.6:c.531A>G	7.37:g.6086641T>C						EIF2AK1_uc003spq.2_Silent_p.G177G|EIF2AK1_uc011jwm.1_Silent_p.G53G|EIF2AK1_uc003spr.1_5'Flank	p.G177G	NM_014413	NP_055228	Q9BQI3	E2AK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)	5	677	-		Ovarian(82;0.0423)	177			ATP (By similarity).|Protein kinase.		A8K2R2|Q549K6|Q8NBW3|Q9HC02|Q9NYE0|Q9P0V6|Q9P1J5|Q9P2H8|Q9UHG4	Silent	SNP	ENST00000199389.6	37	c.531A>G	CCDS5345.1																																																																																				0.333	EIF2AK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207373.2		NM_014413		33	15	0	0	0	0.009718	0	33	15		
AGR2	10551	broad.mit.edu	37	7	16834567	16834567	+	Silent	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr7:16834567T>C	ENST00000419304.2	-	7	623	c.471A>G	c.(469-471)acA>acG	p.T157T	AGR2_ENST00000401412.1_Silent_p.T157T|AGR2_ENST00000419572.2_Silent_p.T177T	NM_006408.3	NP_006399.1	O95994	AGR2_HUMAN	anterior gradient 2	157					lung goblet cell differentiation (GO:0060480)|mucus secretion (GO:0070254)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)	dystroglycan binding (GO:0002162)			endometrium(2)|lung(1)|prostate(1)|skin(2)	6	Lung NSC(10;0.0376)|all_lung(11;0.0855)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		TACACAGAGCTGTATCTGCAG	0.448																																						uc003str.2		NaN																	0					0						c.(469-471)ACA>ACG		anterior gradient 2 homolog precursor							146.0	117.0	127.0					7																	16834567		2203	4300	6503	SO:0001819	synonymous_variant	10551				mucus secretion	endoplasmic reticulum|extracellular region	protein binding	g.chr7:16834567T>C	AF038451	CCDS5364.1	7p21.3	2013-07-31	2013-07-31		ENSG00000106541	ENSG00000106541		"""Protein disulfide isomerases"""	328	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 17"""	606358	"""anterior gradient 2 homolog (Xenopus laevis)"""			9790916	Standard	NM_006408		Approved	XAG-2, HAG-2, AG2, PDIA17	uc003str.3	O95994	OTTHUMG00000023446	ENST00000419304.2:c.471A>G	7.37:g.16834567T>C							p.T157T	NM_006408	NP_006399	O95994	AGR2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.184)	7	658	-	Lung NSC(10;0.0376)|all_lung(11;0.0855)		157						Silent	SNP	ENST00000419304.2	37	c.471A>G	CCDS5364.1																																																																																				0.448	AGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207594.2		NM_006408		14	49	0	0	0	0.004007	0	14	49		
C7orf25	79020	broad.mit.edu	37	7	42949751	42949751	+	Missense_Mutation	SNP	A	A	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr7:42949751A>T	ENST00000350427.4	-	2	1024	c.749T>A	c.(748-750)cTg>cAg	p.L250Q	C7orf25_ENST00000431882.2_Missense_Mutation_p.L308Q|C7orf25_ENST00000438029.1_Missense_Mutation_p.L250Q|PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000447342.1_Missense_Mutation_p.L250Q			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	250										endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						AGTAATGTCCAGATTTACTCT	0.413																																						uc003thw.2		NaN																	0				skin(1)	1						c.(748-750)CTG>CAG		hypothetical protein LOC79020 b							112.0	112.0	112.0					7																	42949751		2203	4300	6503	SO:0001583	missense	79020							g.chr7:42949751A>T	BC001845	CCDS5466.1, CCDS47576.1	7p14.1	2011-11-24			ENSG00000136197	ENSG00000136197			21703	protein-coding gene	gene with protein product							Standard	NM_024054		Approved	MGC2821	uc003thx.4	Q9BPX7	OTTHUMG00000128869	ENST00000350427.4:c.749T>A	7.37:g.42949751A>T	ENSP00000343364:p.Leu250Gln					C7orf25_uc010kxq.2_Missense_Mutation_p.L250Q|C7orf25_uc003thx.3_Missense_Mutation_p.L308Q|C7orf25_uc010kxr.2_Missense_Mutation_p.L308Q	p.L250Q	NM_024054	NP_076959	Q9BPX7	CG025_HUMAN			2	1213	-			250					A4D1V2|J3KR36|Q9H779	Missense_Mutation	SNP	ENST00000350427.4	37	c.749T>A	CCDS5466.1	.	.	.	.	.	.	.	.	.	.	A	19.42	3.824489	0.71143	.	.	ENSG00000136197	ENST00000350427;ENST00000447342;ENST00000431882;ENST00000438029	T;T;T;T	0.60171	0.21;0.21;0.21;0.21	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000001	T	0.79064	0.4383	M	0.86268	2.805	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.82737	-0.0309	10	0.87932	D	0	-1.0962	16.1027	0.81194	1.0:0.0:0.0:0.0	.	308;250	B4DQM3;Q9BPX7	.;CG025_HUMAN	Q	250;250;308;250	ENSP00000343364:L250Q;ENSP00000413029:L250Q;ENSP00000416290:L308Q;ENSP00000396597:L250Q	ENSP00000343364:L250Q	L	-	2	0	C7orf25	42916276	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.919000	0.92770	2.205000	0.71048	0.454000	0.30748	CTG		0.413	C7orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250814.2		NM_024054		18	51	0	0	0	0.001882	0	18	51		
HECW1	23072	broad.mit.edu	37	7	43436489	43436489	+	Splice_Site	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr7:43436489G>C	ENST00000395891.2	+	7	1236		c.e7+1		HECW1_ENST00000453890.1_Splice_Site|HECW1_ENST00000471043.1_Splice_Site	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1						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						TCTCTCTCAGGTATGTTTTGC	0.438																																						uc003tid.1		NaN																	0				ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.e7+1		NEDD4-like ubiquitin-protein ligase 1							143.0	142.0	142.0					7																	43436489		1911	4117	6028	SO:0001630	splice_region_variant	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43436489G>C	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.631+1G>C	7.37:g.43436489G>C						HECW1_uc011kbi.1_Splice_Site_p.D211_splice|HECW1_uc003tie.1_Splice_Site_p.D243_splice	p.D211_splice	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			7	1236	+								A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Splice_Site	SNP	ENST00000395891.2	37	c.631_splice	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	G	18.61	3.660984	0.67700	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	.	.	.	5.63	5.63	0.86233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4826	0.87677	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HECW1	43403014	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.748000	0.68697	2.652000	0.90054	0.655000	0.94253	.		0.438	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2		NM_015052	Intron	10	31	0	0	0	0.000978	0	10	31		
PKD1L1	168507	broad.mit.edu	37	7	47892757	47892757	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr7:47892757A>G	ENST00000289672.2	-	31	4978	c.4928T>C	c.(4927-4929)gTg>gCg	p.V1643A		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1643					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ATAAATCTGCACAATTGACTC	0.388																																						uc003tny.1		NaN																	0				ovary(8)|upper_aerodigestive_tract(2)|breast(1)	11						c.(4927-4929)GTG>GCG		polycystin-1L1							105.0	112.0	110.0					7																	47892757		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47892757A>G	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.4928T>C	7.37:g.47892757A>G	ENSP00000289672:p.Val1643Ala						p.V1643A	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN			31	4928	-			1643			Extracellular (Potential).		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.4928T>C	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	A	10.44	1.351410	0.24512	.	.	ENSG00000158683	ENST00000289672	T	0.25749	1.78	5.14	2.77	0.32553	.	0.343412	0.21245	N	0.077743	T	0.17195	0.0413	L	0.32530	0.975	0.09310	N	1	P	0.36599	0.56	B	0.36186	0.219	T	0.10753	-1.0616	10	0.38643	T	0.18	-6.9147	6.6295	0.22849	0.8061:0.0:0.1939:0.0	.	1643	Q8TDX9	PK1L1_HUMAN	A	1643	ENSP00000289672:V1643A	ENSP00000289672:V1643A	V	-	2	0	PKD1L1	47859282	0.006000	0.16342	0.000000	0.03702	0.008000	0.06430	1.859000	0.39418	0.300000	0.22699	0.533000	0.62120	GTG		0.388	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1		NM_138295		24	70	0	0	0	0.005524	0	24	70		
GUSB	2990	broad.mit.edu	37	7	65439384	65439384	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr7:65439384A>C	ENST00000304895.4	-	8	1419	c.1289T>G	c.(1288-1290)aTg>aGg	p.M430R	GUSB_ENST00000476486.1_5'Flank|GUSB_ENST00000421103.1_Missense_Mutation_p.M284R|GUSB_ENST00000345660.6_Missense_Mutation_p.M379R	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	430					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						CACTTCTTCCATCACCTGCAT	0.607																																						uc003tun.2		NaN																	0					0						c.(1288-1290)ATG>AGG		glucuronidase, beta precursor							124.0	112.0	116.0					7																	65439384		2203	4300	6503	SO:0001583	missense	2990				glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding	g.chr7:65439384A>C	M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.1289T>G	7.37:g.65439384A>C	ENSP00000302728:p.Met430Arg					GUSB_uc011kdt.1_Missense_Mutation_p.M284R	p.M430R	NM_000181	NP_000172	P08236	BGLR_HUMAN			8	1365	-			430					B4E1F6|E9PCV0|Q549U0|Q96CL9	Missense_Mutation	SNP	ENST00000304895.4	37	c.1289T>G	CCDS5530.1	.	.	.	.	.	.	.	.	.	.	A	16.99	3.274479	0.59649	.	.	ENSG00000169919	ENST00000304895;ENST00000421103;ENST00000345660	D;D;D	0.95447	-3.71;-3.71;-3.71	4.82	4.82	0.62117	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 2, TIM barrel (1);	0.036025	0.85682	D	0.000000	D	0.97835	0.9289	M	0.88570	2.965	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.986;1.0	D	0.98713	1.0705	10	0.87932	D	0	.	13.7479	0.62887	1.0:0.0:0.0:0.0	.	284;430	E9PCV0;P08236	.;BGLR_HUMAN	R	430;284;379	ENSP00000302728:M430R;ENSP00000391390:M284R;ENSP00000340734:M379R	ENSP00000302728:M430R	M	-	2	0	GUSB	65076819	1.000000	0.71417	1.000000	0.80357	0.359000	0.29487	7.133000	0.77259	2.026000	0.59711	0.459000	0.35465	ATG		0.607	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251637.3		NM_000181		126	183	0	0	0	0.00361	0	126	183		
GSAP	54103	broad.mit.edu	37	7	77006665	77006665	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr7:77006665C>T	ENST00000257626.7	-	9	697	c.619G>A	c.(619-621)Gag>Aag	p.E207K		NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein	207					positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)										ACGAAATCCTCAGCTATTCTG	0.323																																						uc003ugf.2		NaN																	0				central_nervous_system(1)	1						c.(619-621)GAG>AAG		pigeon homolog							133.0	139.0	137.0					7																	77006665		2203	4300	6503	SO:0001583	missense	54103				beta-amyloid formation|regulation of proteolysis	trans-Golgi network	beta-amyloid binding	g.chr7:77006665C>T		CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088			28042	protein-coding gene	gene with protein product		613552	"""pigeon homolog (Drosophila)"""	PION		20811458	Standard	NM_017439		Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.619G>A	7.37:g.77006665C>T	ENSP00000257626:p.Glu207Lys					PION_uc003ugg.1_5'UTR	p.E207K	NM_017439	NP_059135	A4D1B5	GSAP_HUMAN			9	698	-			207					A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Missense_Mutation	SNP	ENST00000257626.7	37	c.619G>A	CCDS34672.2	.	.	.	.	.	.	.	.	.	.	C	17.22	3.335273	0.60853	.	.	ENSG00000186088	ENST00000257626	T	0.15603	2.41	5.45	5.45	0.79879	.	0.102782	0.37669	U	0.001988	T	0.26340	0.0643	M	0.66939	2.045	0.80722	D	1	B	0.33637	0.42	B	0.38712	0.28	T	0.01889	-1.1253	10	0.30854	T	0.27	.	18.0629	0.89382	0.0:1.0:0.0:0.0	.	207	A4D1B5	GSAP_HUMAN	K	207	ENSP00000257626:E207K	ENSP00000257626:E207K	E	-	1	0	PION	76844601	1.000000	0.71417	0.998000	0.56505	0.971000	0.66376	5.004000	0.63966	2.545000	0.85829	0.650000	0.86243	GAG		0.323	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318672.2		NM_017439		17	88	0	0	0	0.010504	0	17	88		
ZKSCAN5	23660	broad.mit.edu	37	7	99129564	99129564	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr7:99129564A>C	ENST00000394170.2	+	7	2463	c.2212A>C	c.(2212-2214)Act>Cct	p.T738P	ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.T738P|ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.T738P	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	738					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GCATTACAGAACTCATACAGC	0.398																																						uc003uqv.2		NaN																	0				ovary(1)	1						c.(2212-2214)ACT>CCT		zinc finger with KRAB and SCAN domains 5							96.0	97.0	97.0					7																	99129564		2203	4300	6503	SO:0001583	missense	23660				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99129564A>C	AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12867	protein-coding gene	gene with protein product		611272	"""zinc finger protein homologous to Zfp95 in mouse"", ""zinc finger protein 95 homolog (mouse)"""	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.2212A>C	7.37:g.99129564A>C	ENSP00000377725:p.Thr738Pro					ZKSCAN5_uc010lfx.2_Missense_Mutation_p.T738P|ZKSCAN5_uc003uqw.2_Missense_Mutation_p.T738P|ZKSCAN5_uc003uqx.2_Missense_Mutation_p.T665P|ZKSCAN5_uc003uqy.2_Missense_Mutation_p.T474P	p.T738P	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN			7	2336	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		738			C2H2-type 10.		A4D280|D6W5S9	Missense_Mutation	SNP	ENST00000394170.2	37	c.2212A>C	CCDS5667.1	.	.	.	.	.	.	.	.	.	.	A	15.42	2.828470	0.50845	.	.	ENSG00000196652	ENST00000537357;ENST00000326775;ENST00000451158;ENST00000394170	T;T;T	0.12984	2.63;2.63;2.63	5.11	2.67	0.31697	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.245352	0.29853	N	0.011032	T	0.25419	0.0618	M	0.81341	2.54	0.29747	N	0.836677	D;D	0.54397	0.966;0.966	P;P	0.52109	0.69;0.69	T	0.14952	-1.0454	10	0.87932	D	0	.	6.9743	0.24666	0.739:0.0:0.261:0.0	.	738;738	Q8N718;Q9Y2L8	.;ZKSC5_HUMAN	P	738	ENSP00000322872:T738P;ENSP00000392104:T738P;ENSP00000377725:T738P	ENSP00000322872:T738P	T	+	1	0	ZKSCAN5	98967500	0.000000	0.05858	1.000000	0.80357	0.983000	0.72400	1.178000	0.31981	0.478000	0.27488	0.533000	0.62120	ACT		0.398	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345597.1		NM_014569		30	32	0	0	0	0.003271	0	30	32		
CYP3A4	1576	broad.mit.edu	37	7	99375680	99375680	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr7:99375680T>G	ENST00000336411.2	-	3	372	c.189A>C	c.(187-189)gaA>gaC	p.E63D	CYP3A4_ENST00000354593.2_Intron	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	63					alkaloid catabolic process (GO:0009822)|androgen metabolic process (GO:0008209)|calcitriol biosynthetic process from calciol (GO:0036378)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|lipid metabolic process (GO:0006629)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	albendazole monooxygenase activity (GO:0047638)|caffeine oxidase activity (GO:0034875)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)|quinine 3-monooxygenase activity (GO:0050591)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)|taurochenodeoxycholate 6alpha-hydroxylase activity (GO:0033780)|testosterone 6-beta-hydroxylase activity (GO:0050649)|vitamin D 24-hydroxylase activity (GO:0070576)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Abiraterone(DB05812)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetazolamide(DB00819)|Adinazolam(DB00546)|ado-trastuzumab emtansine(DB05773)|Albendazole(DB00518)|Alclometasone(DB00240)|Aldesleukin(DB00041)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Alimemazine(DB01246)|Aliskiren(DB01258)|Allylestrenol(DB01431)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alosetron(DB00969)|Alprazolam(DB00404)|Ambroxol(DB06742)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Arsenic trioxide(DB01169)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atazanavir(DB01072)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Avanafil(DB06237)|Axitinib(DB06626)|Azatadine(DB00719)|Azelastine(DB00972)|Azithromycin(DB00207)|Bedaquiline(DB08903)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bezafibrate(DB01393)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bisoprolol(DB00612)|Boceprevir(DB08873)|Bortezomib(DB00188)|Bosentan(DB00559)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Brinzolamide(DB01194)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Brompheniramine(DB00835)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Busulfan(DB01008)|Cabazitaxel(DB06772)|Cabergoline(DB00248)|Cabozantinib(DB08875)|Caffeine(DB00201)|Calcitriol(DB00136)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Caspofungin(DB00520)|Cefradine(DB01333)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chenodeoxycholic acid(DB06777)|Chloramphenicol(DB00446)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clemastine(DB00283)|Clevidipine(DB04920)|Clindamycin(DB01190)|Clobazam(DB00349)|Clofazimine(DB00845)|Clofibrate(DB00636)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonazepam(DB01068)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Colchicine(DB01394)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cortisone acetate(DB01380)|Crizotinib(DB08865)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Cytarabine(DB00987)|Dabrafenib(DB08912)|Dalfopristin(DB01764)|Danazol(DB01406)|Dantrolene(DB01219)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Deferasirox(DB01609)|Delavirdine(DB00705)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Dicloxacillin(DB00485)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydrocodeine(DB01551)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Disopyramide(DB00280)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dofetilide(DB00204)|Dolasetron(DB00757)|Dolutegravir(DB08930)|Domperidone(DB01184)|Donepezil(DB00843)|Dorzolamide(DB00869)|Doxepin(DB01142)|Doxorubicin(DB00997)|Doxycycline(DB00254)|Dronabinol(DB00470)|Dronedarone(DB04855)|Dutasteride(DB01126)|Econazole(DB01127)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Epinephrine(DB00668)|Eplerenone(DB00700)|Ergocalciferol(DB00153)|Ergoloid mesylate(DB01049)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Estradiol valerate/Dienogest(DB08866)|Estradiol(DB00783)|Estramustine(DB01196)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Etravirine(DB06414)|Everolimus(DB01590)|Exemestane(DB00990)|Ezetimibe(DB00973)|Famciclovir(DB00426)|Felbamate(DB00949)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Finasteride(DB01216)|Fingolimod(DB08868)|Flucloxacillin(DB00301)|Fluconazole(DB00196)|Flunisolide(DB00180)|Flunitrazepam(DB01544)|Fluorometholone(DB00324)|Fluoxetine(DB00472)|Flurazepam(DB00690)|Flutamide(DB00499)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosamprenavir(DB01319)|Fosphenytoin(DB01320)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Glipizide(DB01067)|Glyburide(DB01016)|Granisetron(DB00889)|Griseofulvin(DB00400)|Guanethidine(DB01170)|Guanfacine(DB01018)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Hydralazine(DB01275)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|Indacaterol(DB05039)|Indapamide(DB00808)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Irinotecan(DB00762)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ixabepilone(DB04845)|Josamycin(DB01321)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Levomethadyl Acetate(DB01227)|Levomilnacipran(DB08918)|Levonorgestrel(DB00367)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Lisuride(DB00589)|Lomitapide(DB08827)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumefantrine(DB06708)|Lurasidone(DB08815)|MACITENTAN(DB08932)|Maraviroc(DB04835)|Mebendazole(DB00643)|Medroxyprogesterone Acetate(DB00603)|Mefloquine(DB00358)|Meloxicam(DB00814)|Mequitazine(DB01071)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Methylergometrine(DB00353)|Methylprednisolone(DB00959)|Methyltestosterone(DB06710)|Metronidazole(DB00916)|Metyrapone(DB01011)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Mitoxantrone(DB01204)|Modafinil(DB00745)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nafcillin(DB00607)|Naloxone(DB01183)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nitric Oxide(DB00435)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Omeprazole(DB00338)|Ondansetron(DB00904)|Orlistat(DB01083)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paramethasone(DB01384)|Paricalcitol(DB00910)|Pazopanib(DB06589)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perampanel(DB08883)|Pergolide(DB01186)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenoxybenzamine(DB00925)|Phenprocoumon(DB00946)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pilocarpine(DB01085)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Prazepam(DB01588)|Praziquantel(DB01058)|Prednisolone(DB00860)|Prednisone(DB00635)|Primaquine(DB01087)|Primidone(DB00794)|Probenecid(DB01032)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Pyridostigmine(DB00545)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Quinupristin(DB01369)|Rabeprazole(DB01129)|Raloxifene(DB00481)|Ramelteon(DB00980)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Regorafenib(DB08896)|Repaglinide(DB00912)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rifapentine(DB01201)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Rimonabant(DB06155)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rivastigmine(DB00989)|Rolitetracycline(DB01301)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosuvastatin(DB01098)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Rufinamide(DB06201)|Ruxolitinib(DB08877)|Salbutamol(DB01001)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sevoflurane(DB01236)|Sibutramine(DB01105)|Sildenafil(DB00203)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Sitaxentan(DB06268)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sufentanil(DB00708)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfanilamide(DB00259)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tasosartan(DB01349)|Telaprevir(DB05521)|Telithromycin(DB00976)|Temazepam(DB00231)|Temozolomide(DB00853)|Temsirolimus(DB06287)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Tetracycline(DB00759)|Theophylline(DB00277)|Thiopental(DB00599)|Thiotepa(DB04572)|Tiagabine(DB00906)|Ticagrelor(DB08816)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tioconazole(DB01007)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tofisopam(DB08811)|Tolterodine(DB01036)|Tolvaptan(DB06212)|Topiramate(DB00273)|Topotecan(DB01030)|Toremifene(DB00539)|Trabectedin(DB05109)|Tramadol(DB00193)|Trametinib(DB08911)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Tretinoin(DB00755)|Triamcinolone(DB00620)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vandetanib(DB05294)|Vardenafil(DB00862)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Zidovudine(DB00495)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)|Zopiclone(DB01198)	TTTTATGACATTCCATGTCAA	0.368																																						uc003urv.1		NaN																	0				central_nervous_system(3)|ovary(1)	4						c.(187-189)GAA>GAC		cytochrome P450, family 3, subfamily A,	Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)						92.0	85.0	87.0					7																	99375680		2203	4300	6503	SO:0001583	missense	1576				alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity	g.chr7:99375680T>G	AF280107	CCDS5674.1	7q21.1	2011-06-21	2003-01-14		ENSG00000160868	ENSG00000160868	1.1.1.161	"""Cytochrome P450s"""	2637	protein-coding gene	gene with protein product		124010	"""cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 4"""	CYP3A3		8269949, 1391968	Standard	NM_001202855		Approved		uc003urv.2	P08684	OTTHUMG00000156651	ENST00000336411.2:c.189A>C	7.37:g.99375680T>G	ENSP00000337915:p.Glu63Asp					CYP3A4_uc003urw.1_Missense_Mutation_p.E63D|CYP3A4_uc011kiz.1_Missense_Mutation_p.E63D|CYP3A4_uc011kja.1_Intron|CYP3A4_uc011kjb.1_Intron	p.E63D	NM_017460	NP_059488	P08684	CP3A4_HUMAN			3	293	-	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)		63					P05184|Q16757|Q9UK50	Missense_Mutation	SNP	ENST00000336411.2	37	c.189A>C	CCDS5674.1	.	.	.	.	.	.	.	.	.	.	T	5.422	0.262992	0.10294	.	.	ENSG00000160868	ENST00000336411;ENST00000415003	T;T	0.69561	-0.41;-0.41	4.49	1.92	0.25849	.	0.915588	0.09365	N	0.812171	T	0.54062	0.1835	L	0.37850	1.14	0.80722	D	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.14023	0.01;0.01;0.01	T	0.41858	-0.9485	10	0.45353	T	0.12	.	6.0944	0.20013	0.1618:0.0:0.1687:0.6695	.	63;63;63	Q6GRK0;Q86SK3;P08684	.;.;CP3A4_HUMAN	D	63;76	ENSP00000337915:E63D;ENSP00000397208:E76D	ENSP00000337915:E63D	E	-	3	2	CYP3A4	99213616	0.000000	0.05858	0.044000	0.18714	0.033000	0.12548	-1.401000	0.02502	0.149000	0.19098	0.460000	0.39030	GAA		0.368	CYP3A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345059.1				11	18	0	0	0	0.000978	0	11	18		
EPHB4	2050	broad.mit.edu	37	7	100417868	100417868	+	Missense_Mutation	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr7:100417868G>C	ENST00000358173.3	-	5	1327	c.859C>G	c.(859-861)Cca>Gca	p.P287A	RN7SL750P_ENST00000582814.1_RNA|EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Missense_Mutation_p.P287A	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	287	Cys-rich.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCTGGGCATGGCTGGCAGGAC	0.592																																					GBM(200;2113 3072 25865 52728)	uc003uwn.1		NaN																	0				lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1)	15						c.(859-861)CCA>GCA		EPH receptor B4 precursor							105.0	121.0	115.0					7																	100417868		2203	4300	6503	SO:0001583	missense	2050				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:100417868G>C	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.859C>G	7.37:g.100417868G>C	ENSP00000350896:p.Pro287Ala					EPHB4_uc003uwm.1_Missense_Mutation_p.P194A|EPHB4_uc010lhj.1_Missense_Mutation_p.P287A|EPHB4_uc011kkf.1_Missense_Mutation_p.P287A|EPHB4_uc011kkg.1_Intron|EPHB4_uc011kkh.1_Missense_Mutation_p.P287A	p.P287A	NM_004444	NP_004435	P54760	EPHB4_HUMAN			5	1350	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		287			Extracellular (Potential).|Cys-rich.		B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Missense_Mutation	SNP	ENST00000358173.3	37	c.859C>G	CCDS5706.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.923450	0.33908	.	.	ENSG00000196411	ENST00000360620;ENST00000358173	T;T	0.14144	2.53;2.53	5.35	3.19	0.36642	Tyrosine-protein kinase ephrin type A/B receptor-like (1);	0.461945	0.18299	N	0.145488	T	0.18593	0.0446	M	0.72894	2.215	0.09310	N	1	B;B;B;B	0.27625	0.183;0.183;0.042;0.053	B;B;B;B	0.31946	0.138;0.138;0.038;0.13	T	0.12167	-1.0558	10	0.52906	T	0.07	.	10.6432	0.45604	0.189:0.0:0.811:0.0	.	287;287;287;287	B5A972;B5A970;Q96L35;P54760	.;.;.;EPHB4_HUMAN	A	287	ENSP00000353833:P287A;ENSP00000350896:P287A	ENSP00000350896:P287A	P	-	1	0	EPHB4	100255804	0.737000	0.28175	0.999000	0.59377	0.996000	0.88848	2.100000	0.41777	1.241000	0.43820	0.655000	0.94253	CCA		0.592	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1		NM_004444		164	335	0	0	0	0.00361	0	164	335		
COG5	10466	broad.mit.edu	37	7	106921779	106921779	+	Missense_Mutation	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr7:106921779G>A	ENST00000347053.3	-	14	1684	c.1634C>T	c.(1633-1635)aCc>aTc	p.T545I	COG5_ENST00000393603.2_Missense_Mutation_p.T545I|COG5_ENST00000297135.3_Missense_Mutation_p.T545I	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	545					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						TAACTGGATGGTCTTTGCCAC	0.299																																						uc003ved.2		NaN																	0				central_nervous_system(2)|skin(2)	4						c.(1633-1635)ACC>ATC		component of oligomeric golgi complex 5 isoform							115.0	109.0	111.0					7																	106921779		2203	4300	6503	SO:0001583	missense	10466				intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding	g.chr7:106921779G>A	AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"""Components of oligomeric golgi complex"""	14857	protein-coding gene	gene with protein product		606821	"""golgi transport complex 1 (90 kDa subunit)"""	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.1634C>T	7.37:g.106921779G>A	ENSP00000334703:p.Thr545Ile					COG5_uc003vec.2_Missense_Mutation_p.T545I|COG5_uc003vee.2_Missense_Mutation_p.T545I	p.T545I	NM_181733	NP_859422	Q9UP83	COG5_HUMAN			14	2159	-			545					A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Missense_Mutation	SNP	ENST00000347053.3	37	c.1634C>T	CCDS5743.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.816907	0.90790	.	.	ENSG00000164597	ENST00000347053;ENST00000297135;ENST00000393603	T;T;T	0.59364	0.27;0.27;0.27	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.72606	0.3481	L	0.54323	1.7	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.71656	0.909;0.974	T	0.63791	-0.6557	10	0.25106	T	0.35	-14.5929	20.8794	0.99867	0.0:0.0:1.0:0.0	.	545;545	Q9UP83;Q9UP83-2	COG5_HUMAN;.	I	545	ENSP00000334703:T545I;ENSP00000297135:T545I;ENSP00000377228:T545I	ENSP00000297135:T545I	T	-	2	0	COG5	106709015	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.939000	0.92951	2.941000	0.99782	0.655000	0.94253	ACC		0.299	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060216.4				13	25	0	0	0	0.010504	0	13	25		
PPP1R3A	5506	broad.mit.edu	37	7	113519130	113519130	+	Missense_Mutation	SNP	T	T	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr7:113519130T>G	ENST00000284601.3	-	4	2085	c.2017A>C	c.(2017-2019)Aca>Cca	p.T673P		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	673					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ATATGCTCTGTTATGTTTGTC	0.378																																						uc010ljy.1		NaN																	0				lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						c.(2017-2019)ACA>CCA		protein phosphatase 1, regulatory (inhibitor)							218.0	211.0	214.0					7																	113519130		2203	4299	6502	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113519130T>G	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.2017A>C	7.37:g.113519130T>G	ENSP00000284601:p.Thr673Pro						p.T673P	NM_002711	NP_002702	Q16821	PPR3A_HUMAN			4	2048	-			673					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.2017A>C	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	T	10.89	1.478298	0.26511	.	.	ENSG00000154415	ENST00000284601	T	0.19806	2.12	6.01	-2.41	0.06562	.	0.709439	0.13629	N	0.373827	T	0.22820	0.0551	M	0.64997	1.995	0.09310	N	1	D	0.54397	0.966	P	0.47299	0.543	T	0.14587	-1.0467	10	0.44086	T	0.13	-0.4205	8.116	0.30944	0.0:0.3781:0.1167:0.5052	.	673	Q16821	PPR3A_HUMAN	P	673	ENSP00000284601:T673P	ENSP00000284601:T673P	T	-	1	0	PPP1R3A	113306366	0.000000	0.05858	0.050000	0.19076	0.375000	0.29983	-0.482000	0.06544	-0.372000	0.07992	-0.340000	0.08031	ACA		0.378	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1		NM_002711		43	49	0	0	0	0.00361	0	43	49		
KCND2	3751	broad.mit.edu	37	7	120381638	120381638	+	Silent	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr7:120381638T>C	ENST00000331113.4	+	3	2294	c.1329T>C	c.(1327-1329)gcT>gcC	p.A443A		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	443					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	GCGCAAATGCTTACATGCAGA	0.368																																						uc003vjj.1		NaN																	0				ovary(2)|central_nervous_system(2)|skin(1)	5						c.(1327-1329)GCT>GCC		potassium voltage-gated channel, Shal-related							93.0	100.0	97.0					7																	120381638		2203	4300	6503	SO:0001819	synonymous_variant	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:120381638T>C	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.1329T>C	7.37:g.120381638T>C							p.A443A	NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN			3	2294	+	all_neural(327;0.117)		443			Cytoplasmic (Potential).		O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Silent	SNP	ENST00000331113.4	37	c.1329T>C	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	T	11.86	1.763651	0.31228	.	.	ENSG00000184408	ENST00000425288	.	.	.	5.38	-1.81	0.07882	.	.	.	.	.	T	0.50871	0.1641	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43261	-0.9402	4	.	.	.	.	6.6025	0.22708	0.1186:0.4269:0.0:0.4545	.	.	.	.	P	29	.	.	L	+	2	0	KCND2	120168874	0.521000	0.26258	0.966000	0.40874	0.994000	0.84299	-0.337000	0.07852	-0.229000	0.09854	0.528000	0.53228	CTT		0.368	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1		NM_012281		14	24	0	0	0	0.010504	0	14	24		
PLXNA4	91584	broad.mit.edu	37	7	131832748	131832748	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr7:131832748C>G	ENST00000359827.3	-	27	5737	c.4775G>C	c.(4774-4776)gGt>gCt	p.G1592A	PLXNA4_ENST00000321063.4_Missense_Mutation_p.G1592A			Q9HCM2	PLXA4_HUMAN	plexin A4	1592					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CACCACGGAACCATCTGGCAC	0.507																																						uc003vra.3		NaN																	0				ovary(1)	1						c.(4774-4776)GGT>GCT		plexin A4 isoform 1							109.0	115.0	113.0					7																	131832748		2082	4221	6303	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131832748C>G	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.4775G>C	7.37:g.131832748C>G	ENSP00000352882:p.Gly1592Ala					PLXNA4_uc003vqz.3_5'Flank	p.G1592A	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			27	5004	-			1592			Cytoplasmic (Potential).		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.4775G>C	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.150563	0.78001	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.14893	2.47;2.47	5.39	5.39	0.77823	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.096144	0.64402	D	0.000001	T	0.34861	0.0912	M	0.82823	2.61	0.50467	D	0.999872	P	0.46987	0.888	P	0.46510	0.519	T	0.26744	-1.0094	10	0.56958	D	0.05	.	19.5216	0.95187	0.0:1.0:0.0:0.0	.	1592	Q9HCM2	PLXA4_HUMAN	A	1592	ENSP00000323194:G1592A;ENSP00000352882:G1592A	ENSP00000323194:G1592A	G	-	2	0	PLXNA4	131483288	0.998000	0.40836	0.983000	0.44433	0.870000	0.49936	3.589000	0.53972	2.700000	0.92200	0.561000	0.74099	GGT		0.507	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2		NM_181775		12	78	0	0	0	0.001855	0	12	78		
UBN2	254048	broad.mit.edu	37	7	138978726	138978726	+	Splice_Site	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr7:138978726C>A	ENST00000473989.3	+	17	3993	c.3993C>A	c.(3991-3993)caC>caA	p.H1331Q	UBN2_ENST00000288561.8_Splice_Site_p.H1248Q	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1331						extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						AAGCATTTCACGGTGAGAACG	0.433																																						uc011kqr.1		NaN																	0				ovary(1)|skin(1)	2						c.(3991-3993)CAC>CAA		ubinuclein 2							70.0	73.0	72.0					7																	138978726		2079	4219	6298	SO:0001630	splice_region_variant	254048							g.chr7:138978726C>A	AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.3994+1C>A	7.37:g.138978726C>A							p.H1331Q	NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN			17	3993	+			1331					A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	ENST00000473989.3	37	c.3993C>A	CCDS43655.2	.	.	.	.	.	.	.	.	.	.	C	11.39	1.625275	0.28889	.	.	ENSG00000157741	ENST00000473989;ENST00000288561	T;T	0.28454	1.62;1.61	5.86	-3.9	0.04181	.	0.286954	0.32852	N	0.005567	T	0.12135	0.0295	N	0.08118	0	0.23192	N	0.998149	B	0.22146	0.065	B	0.22152	0.038	T	0.16217	-1.0410	10	0.39692	T	0.17	-3.7063	8.4912	0.33102	0.1108:0.4853:0.0:0.4038	.	1331	Q6ZU65	UBN2_HUMAN	Q	1331;1248	ENSP00000418648:H1331Q;ENSP00000288561:H1248Q	ENSP00000288561:H1248Q	H	+	3	2	UBN2	138629266	1.000000	0.71417	0.990000	0.47175	0.323000	0.28346	0.448000	0.21726	-0.438000	0.07232	-0.355000	0.07637	CAC		0.433	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349272.3		NM_173569	Missense_Mutation	14	25	1	0	2.23348e-06	0.004007	2.31441e-06	14	25		
KEL	3792	broad.mit.edu	37	7	142650920	142650920	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr7:142650920C>A	ENST00000355265.2	-	9	1522	c.1048G>T	c.(1048-1050)Gtg>Ttg	p.V350L	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	350					vasoconstriction (GO:0042310)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					ATCTCCTCCACCAGTTGTGAC	0.537																																						uc003wcb.2		NaN																	0				ovary(3)|central_nervous_system(1)	4						c.(1048-1050)GTG>TTG		Kell blood group, metallo-endopeptidase							260.0	262.0	261.0					7																	142650920		2203	4300	6503	SO:0001583	missense	3792				proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	g.chr7:142650920C>A	BC003135	CCDS34766.1	7q33	2014-07-19	2006-10-10		ENSG00000197993	ENSG00000197993		"""CD molecules"", ""Blood group antigens"""	6308	protein-coding gene	gene with protein product		613883	"""Kell blood group"", ""Kell blood group, metalloendopeptidase"""			1712490, 7683930	Standard	NM_000420		Approved	ECE3, CD238	uc003wcb.3	P23276	OTTHUMG00000157159	ENST00000355265.2:c.1048G>T	7.37:g.142650920C>A	ENSP00000347409:p.Val350Leu						p.V350L	NM_000420	NP_000411	P23276	KELL_HUMAN			9	1258	-	Melanoma(164;0.059)		350			Extracellular (Potential).		B2RBV4|Q96RS8|Q99885	Missense_Mutation	SNP	ENST00000355265.2	37	c.1048G>T	CCDS34766.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.309971	0.60414	.	.	ENSG00000197993	ENST00000355265	T	0.70045	-0.45	5.34	1.0	0.19881	Peptidase M13 (1);	1.052130	0.07522	N	0.910741	T	0.55194	0.1905	L	0.56769	1.78	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.36768	-0.9734	10	0.12103	T	0.63	-0.5844	3.6249	0.08109	0.0:0.4903:0.1896:0.3201	.	350	P23276	KELL_HUMAN	L	350	ENSP00000347409:V350L	ENSP00000347409:V350L	V	-	1	0	KEL	142361042	0.712000	0.27916	0.649000	0.29536	0.633000	0.38033	0.288000	0.18939	0.665000	0.31066	0.478000	0.44815	GTG		0.537	KEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347671.2		NM_000420		109	199	1	0	5.88774e-50	0.00361	6.8266e-50	109	199		
ZNF786	136051	broad.mit.edu	37	7	148769267	148769267	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr7:148769267G>A	ENST00000491431.1	-	4	661	c.597C>T	c.(595-597)aaC>aaT	p.N199N	ZNF786_ENST00000451334.3_Silent_p.N162N|ZNF786_ENST00000316286.9_Silent_p.N113N	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	199					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CTAAATGGTTGTTCTCCCAAC	0.582																																						uc003wfh.2		NaN																	0				breast(3)|skin(1)	4						c.(595-597)AAC>AAT		zinc finger protein 786							26.0	29.0	28.0					7																	148769267		1994	4162	6156	SO:0001819	synonymous_variant	136051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148769267G>A	AK095701, AL834510	CCDS47738.1	7q36.1	2013-01-08			ENSG00000197362	ENSG00000197362		"""Zinc fingers, C2H2-type"", ""-"""	21806	protein-coding gene	gene with protein product							Standard	NM_152411		Approved	DKFZp762I137	uc003wfh.2	Q8N393	OTTHUMG00000158975	ENST00000491431.1:c.597C>T	7.37:g.148769267G>A						ZNF786_uc011kuk.1_Silent_p.N162N|ZNF786_uc003wfi.2_Silent_p.N113N	p.N199N	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	734	-	Melanoma(164;0.15)		199			C2H2-type 1; degenerate.		A1A568|B4DMI1	Silent	SNP	ENST00000491431.1	37	c.597C>T	CCDS47738.1																																																																																				0.582	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352751.1		NM_152411		9	22	0	0	0	0.00245	0	9	22		
FGF20	26281	broad.mit.edu	37	8	16859521	16859521	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr8:16859521G>A	ENST00000180166.5	-	1	169	c.21C>T	c.(19-21)gtC>gtT	p.V7V		NM_019851.2	NP_062825.1	Q9NP95	FGF20_HUMAN	fibroblast growth factor 20	7					cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of cardiac muscle cell proliferation (GO:0060043)|signal transduction (GO:0007165)	extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	11				Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GAAAGCCCCCGACTTCGGCTA	0.637																																						uc003wxc.1		NaN																	0				lung(1)	1						c.(19-21)GTC>GTT		fibroblast growth factor 20							3.0	4.0	4.0					8																	16859521		1773	3765	5538	SO:0001819	synonymous_variant	26281				cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	extracellular region|soluble fraction	growth factor activity	g.chr8:16859521G>A	AB030648	CCDS5998.1	8p22	2008-05-15			ENSG00000078579	ENSG00000078579			3677	protein-coding gene	gene with protein product		605558				10913340	Standard	NM_019851		Approved		uc003wxc.1	Q9NP95	OTTHUMG00000096964	ENST00000180166.5:c.21C>T	8.37:g.16859521G>A						FGF20_uc010lsv.1_RNA|FGF20_uc010lsw.1_Silent_p.V7V	p.V7V	NM_019851	NP_062825	Q9NP95	FGF20_HUMAN		Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	1	154	-			7					B2RPH5	Silent	SNP	ENST00000180166.5	37	c.21C>T	CCDS5998.1																																																																																				0.637	FGF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214030.1				6	3	0	0	0	0.00308	0	6	3		
DPYSL2	1808	broad.mit.edu	37	8	26509890	26509890	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr8:26509890C>T	ENST00000311151.5	+	12	1811	c.1399C>T	c.(1399-1401)Cgc>Tgc	p.R467C	DPYSL2_ENST00000521913.1_Missense_Mutation_p.R431C|DPYSL2_ENST00000523027.1_Missense_Mutation_p.R431C	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	467					axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|endocytosis (GO:0006897)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|olfactory bulb development (GO:0021772)|positive regulation of glutamate secretion (GO:0014049)|pyrimidine nucleobase catabolic process (GO:0006208)|regulation of neuron differentiation (GO:0045664)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|spinal cord development (GO:0021510)|synaptic vesicle transport (GO:0048489)	axon (GO:0030424)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	dihydropyrimidinase activity (GO:0004157)			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		AGGCTCTGGACGCTACATTCC	0.522																																						uc003xfb.1		NaN																	0				large_intestine(1)	1						c.(1399-1401)CGC>TGC		dihydropyrimidinase-like 2							112.0	95.0	101.0					8																	26509890		2203	4300	6503	SO:0001583	missense	1808				axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding	g.chr8:26509890C>T	D78013	CCDS6051.1, CCDS59096.1	8p22-p21	2011-09-28			ENSG00000092964	ENSG00000092964			3014	protein-coding gene	gene with protein product		602463				8973361	Standard	NM_001197293		Approved	DRP-2, DHPRP2, CRMP2, DRP2	uc003xfa.3	Q16555	OTTHUMG00000099439	ENST00000311151.5:c.1399C>T	8.37:g.26509890C>T	ENSP00000309539:p.Arg467Cys					DPYSL2_uc003xfa.2_Missense_Mutation_p.R572C|DPYSL2_uc010luk.1_RNA|DPYSL2_uc011lah.1_Missense_Mutation_p.R431C	p.R467C	NM_001386	NP_001377	Q16555	DPYL2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)	12	1749	+		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)	467					A8K5H2|B4DR31|D3DSS7|O00424	Missense_Mutation	SNP	ENST00000311151.5	37	c.1399C>T	CCDS6051.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.707962	0.89018	.	.	ENSG00000092964	ENST00000545637;ENST00000521913;ENST00000311151;ENST00000522745;ENST00000523027	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	5.06	5.06	0.68205	Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.89839	0.6831	M	0.90870	3.155	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.74348	0.969;0.983	D	0.91409	0.5149	10	0.72032	D	0.01	-17.939	14.8196	0.70062	0.1526:0.8474:0.0:0.0	.	467;523	Q16555;Q59GB4	DPYL2_HUMAN;.	C	93;431;467;467;431	ENSP00000427985:R431C;ENSP00000309539:R467C;ENSP00000428909:R467C;ENSP00000431117:R431C	ENSP00000309539:R467C	R	+	1	0	DPYSL2	26565807	0.996000	0.38824	1.000000	0.80357	0.995000	0.86356	3.098000	0.50259	2.797000	0.96272	0.561000	0.74099	CGC		0.522	DPYSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216904.3		NM_001386		19	45	0	0	0	0.010504	0	19	45		
PRKDC	5591	broad.mit.edu	37	8	48817520	48817520	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr8:48817520T>C	ENST00000314191.2	-	26	3007	c.2951A>G	c.(2950-2952)tAt>tGt	p.Y984C	PRKDC_ENST00000338368.3_Missense_Mutation_p.Y984C|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	984					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TAGTGGCTCATACAGTTGCCT	0.358								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	uc003xqi.2		NaN																	0				lung(12)|central_nervous_system(9)|ovary(6)|skin(4)|large_intestine(3)	34						c.(2950-2952)TAT>TGT	NHEJ	protein kinase, DNA-activated, catalytic							149.0	141.0	143.0					8																	48817520		1896	4115	6011	SO:0001583	missense	5591				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	g.chr8:48817520T>C		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.2951A>G	8.37:g.48817520T>C	ENSP00000313420:p.Tyr984Cys					PRKDC_uc003xqj.2_Missense_Mutation_p.Y984C|PRKDC_uc011ldh.1_Missense_Mutation_p.Y984C	p.Y984C	NM_006904	NP_008835	P78527	PRKDC_HUMAN			26	3008	-		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)	984					P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	ENST00000314191.2	37	c.2951A>G		.	.	.	.	.	.	.	.	.	.	T	13.77	2.337747	0.41398	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.64438	-0.1;-0.1	5.5	3.04	0.35103	Armadillo-type fold (1);	0.154729	0.45361	D	0.000362	T	0.74658	0.3745	.	.	.	0.46356	D	0.999006	D;D;D	0.67145	0.996;0.996;0.992	P;P;P	0.61940	0.896;0.838;0.789	T	0.75286	-0.3371	9	0.87932	D	0	.	10.7269	0.46074	0.2545:0.0:0.0:0.7455	.	984;984;984	P78527-2;E7EUY0;P78527	.;.;PRKDC_HUMAN	C	984	ENSP00000313420:Y984C;ENSP00000345182:Y984C	ENSP00000313420:Y984C	Y	-	2	0	PRKDC	48980073	1.000000	0.71417	0.424000	0.26647	0.245000	0.25701	3.116000	0.50399	0.335000	0.23614	0.379000	0.24179	TAT		0.358	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001081640		19	19	0	0	0	0.00333	0	19	19		
MOS	4342	broad.mit.edu	37	8	57025641	57025641	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr8:57025641C>T	ENST00000311923.1	-	1	900	c.901G>A	c.(901-903)Gct>Act	p.A301T		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	301	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|chromatin organization (GO:0006325)|establishment of meiotic spindle orientation (GO:0051296)|MAPK cascade (GO:0000165)|meiotic spindle organization (GO:0000212)|negative regulation of metaphase/anaphase transition of meiotic cell cycle (GO:1902103)|protein autophosphorylation (GO:0046777)|regulation of meiosis (GO:0040020)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			AAGACGGCAGCGGAGAGGGAC	0.692																																					Esophageal Squamous(124;373 2870 4778)	uc011leb.1		NaN																	0				lung(2)|ovary(1)|central_nervous_system(1)	4						c.(901-903)GCT>ACT		v-mos Moloney murine sarcoma viral oncogene							30.0	30.0	30.0					8																	57025641		2203	4300	6503	SO:0001583	missense	4342						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr8:57025641C>T		CCDS6164.1	8q11	2012-10-02			ENSG00000172680	ENSG00000172680			7199	protein-coding gene	gene with protein product		190060				9552420	Standard	NM_005372		Approved		uc011leb.2	P00540	OTTHUMG00000164299	ENST00000311923.1:c.901G>A	8.37:g.57025641C>T	ENSP00000310722:p.Ala301Thr						p.A301T	NM_005372	NP_005363	P00540	MOS_HUMAN	Epithelial(17;0.00117)|all cancers(17;0.00879)		1	901	-			301			Protein kinase.		Q3KPG9|Q3KPH0	Missense_Mutation	SNP	ENST00000311923.1	37	c.901G>A	CCDS6164.1	.	.	.	.	.	.	.	.	.	.	C	16.69	3.192480	0.58017	.	.	ENSG00000172680	ENST00000311923	D	0.93307	-3.2	5.8	2.75	0.32379	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.969547	0.08504	N	0.935980	D	0.87826	0.6275	N	0.20986	0.625	0.09310	N	1	B	0.23185	0.081	B	0.23852	0.049	T	0.78237	-0.2282	10	0.49607	T	0.09	.	8.4013	0.32588	0.2023:0.672:0.0:0.1257	.	301	P00540	MOS_HUMAN	T	301	ENSP00000310722:A301T	ENSP00000310722:A301T	A	-	1	0	MOS	57188195	0.008000	0.16893	0.001000	0.08648	0.104000	0.19210	1.093000	0.30939	0.816000	0.34421	0.561000	0.74099	GCT		0.692	MOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378174.1		NM_005372		26	67	0	0	0	0.005524	0	26	67		
MCMDC2	157777	broad.mit.edu	37	8	67803255	67803255	+	Missense_Mutation	SNP	T	T	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr8:67803255T>C	ENST00000422365.2	+	10	1400	c.1229T>C	c.(1228-1230)aTa>aCa	p.I410T	MCMDC2_ENST00000313616.5_Missense_Mutation_p.I410T|MCMDC2_ENST00000396592.3_Missense_Mutation_p.I410T|MCMDC2_ENST00000541540.1_Missense_Mutation_p.I347T	NM_173518.4	NP_775789.3	Q4G0Z9	MCMD2_HUMAN	minichromosome maintenance domain containing 2	410					DNA replication (GO:0006260)		ATP binding (GO:0005524)|DNA binding (GO:0003677)			endometrium(2)|kidney(2)|lung(5)	9						ATCTGCTTTATAGGAGACTTG	0.368																																						uc003xwz.3		NaN																	0				ovary(1)	1						c.(1228-1230)ATA>ACA		minichromosome maintenance complex							91.0	86.0	88.0					8																	67803255		2203	4300	6503	SO:0001583	missense	157777				DNA replication		ATP binding|DNA binding	g.chr8:67803255T>C	BC034576	CCDS6197.2, CCDS47868.1, CCDS47869.1	8q13.1	2012-04-13	2012-04-13	2012-04-13	ENSG00000178460	ENSG00000178460			26368	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 45"""	C8orf45			Standard	NM_173518		Approved	FLJ25692	uc003xwz.4	Q4G0Z9	OTTHUMG00000157068	ENST00000422365.2:c.1229T>C	8.37:g.67803255T>C	ENSP00000413632:p.Ile410Thr					C8orf45_uc011lev.1_Missense_Mutation_p.I410T|C8orf45_uc011lew.1_Missense_Mutation_p.I341T|C8orf45_uc011lex.1_Missense_Mutation_p.I168T|C8orf45_uc003xwy.3_Missense_Mutation_p.I410T	p.I410T	NM_173518	NP_775789	Q4G0Z9	CH045_HUMAN	Epithelial(68;0.00384)|OV - Ovarian serous cystadenocarcinoma(28;0.00913)|all cancers(69;0.0175)|BRCA - Breast invasive adenocarcinoma(89;0.206)		10	1400	+	Breast(64;0.186)		410					B4DYZ3|B4DZM4|B4E293|Q6P533|Q7Z3P4	Missense_Mutation	SNP	ENST00000422365.2	37	c.1229T>C	CCDS6197.2	.	.	.	.	.	.	.	.	.	.	T	13.68	2.308901	0.40895	.	.	ENSG00000178460	ENST00000379356;ENST00000396592;ENST00000422365;ENST00000313616;ENST00000541540	T;T;T;T	0.29917	1.55;1.55;1.55;1.55	4.84	3.66	0.41972	.	0.161766	0.56097	N	0.000031	T	0.28632	0.0709	L	0.51422	1.61	0.38604	D	0.950734	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.11329	0.006;0.003;0.003	T	0.13548	-1.0505	10	0.87932	D	0	-8.6494	10.8439	0.46733	0.0:0.076:0.0:0.924	.	347;410;410	Q4G0Z9-4;Q4G0Z9;B4DXX4	.;CH045_HUMAN;.	T	282;410;410;410;347	ENSP00000379837:I410T;ENSP00000413632:I410T;ENSP00000317234:I410T;ENSP00000445629:I347T	ENSP00000317234:I410T	I	+	2	0	C8orf45	67965809	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.181000	0.58303	0.773000	0.33404	0.482000	0.46254	ATA		0.368	MCMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347350.1		NM_173518		17	12	0	0	0	0.002299	0	17	12		
RIMS2	9699	broad.mit.edu	37	8	105263981	105263981	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr8:105263981C>T	ENST00000436393.2	+	28	4278	c.4037C>T	c.(4036-4038)cCt>cTt	p.P1346L	RIMS2_ENST00000339750.2_Missense_Mutation_p.P264L|RIMS2_ENST00000507740.1_Missense_Mutation_p.P1142L|RIMS2_ENST00000406091.3_Missense_Mutation_p.P1328L|RIMS2_ENST00000262231.10_Missense_Mutation_p.P1167L			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1390	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ACCTTGGCCCCTCTGACAAGA	0.448										HNSCC(12;0.0054)																												uc003yls.2		NaN																	0				ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	15						c.(4036-4038)CCT>CTT		regulating synaptic membrane exocytosis 2							147.0	147.0	147.0					8																	105263981		1864	4093	5957	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:105263981C>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.4037C>T	8.37:g.105263981C>T	ENSP00000390665:p.Pro1346Leu	HNSCC(12;0.0054)				RIMS2_uc003ylp.2_Missense_Mutation_p.P1328L|RIMS2_uc003ylq.2_Missense_Mutation_p.P1142L|RIMS2_uc003ylr.2_Missense_Mutation_p.P1167L	p.P1346L	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		28	4278	+			1390					B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000436393.2	37	c.4037C>T		.	.	.	.	.	.	.	.	.	.	C	19.04	3.750127	0.69533	.	.	ENSG00000176406	ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000436393;ENST00000339750	T;T;T;T;T	0.25250	2.34;2.06;2.07;2.29;1.81	5.64	5.64	0.86602	.	.	.	.	.	T	0.49830	0.1580	L	0.54323	1.7	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.85130	0.976;0.996;0.996;0.997	T	0.46289	-0.9202	9	0.87932	D	0	.	19.6939	0.96016	0.0:1.0:0.0:0.0	.	1346;1167;1142;1328	D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	.;.;.;.	L	1365;1328;1390;1167;1142;1346;264	ENSP00000384892:P1328L;ENSP00000262231:P1167L;ENSP00000423559:P1142L;ENSP00000390665:P1346L;ENSP00000342051:P264L	ENSP00000262231:P1167L	P	+	2	0	RIMS2	105333157	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.809000	0.86057	2.660000	0.90430	0.655000	0.94253	CCT		0.448	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000367217.1		NM_001100117		7	64	0	0	0	0.006214	0	7	64		
CSMD3	114788	broad.mit.edu	37	8	114290867	114290867	+	Silent	SNP	G	G	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr8:114290867G>C	ENST00000297405.5	-	3	712	c.468C>G	c.(466-468)acC>acG	p.T156T	CSMD3_ENST00000455883.2_Silent_p.T156T|CSMD3_ENST00000352409.3_Silent_p.T156T|CSMD3_ENST00000343508.3_Silent_p.T116T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	156	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CAAAATCACTGGTCAAACGTA	0.373										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NaN																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(466-468)ACC>ACG		CUB and Sushi multiple domains 3 isoform 1							124.0	108.0	114.0					8																	114290867		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:114290867G>C	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.468C>G	8.37:g.114290867G>C		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003ynt.2_Silent_p.T116T|CSMD3_uc011lhx.1_Silent_p.T156T|CSMD3_uc010mcx.1_Silent_p.T156T	p.T156T	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			3	627	-			156			Extracellular (Potential).|CUB 1.		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.468C>G	CCDS6315.1																																																																																				0.373	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1		NM_052900		11	41	0	0	0	0.004007	0	11	41		
ANXA13	312	broad.mit.edu	37	8	124714886	124714886	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr8:124714886C>A	ENST00000419625.1	-	3	254	c.182G>T	c.(181-183)gGc>gTc	p.G61V	ANXA13_ENST00000262219.6_Missense_Mutation_p.G102V	NM_004306.2	NP_004297.2	P27216	ANX13_HUMAN	annexin A13	61					cell differentiation (GO:0030154)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|exocytic vesicle (GO:0070382)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylglycerol binding (GO:1901611)|phosphatidylserine binding (GO:0001786)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			AATCACCTTGCCGTACGTTGC	0.507																																						uc003yqu.2		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(181-183)GGC>GTC		annexin A13 isoform a							328.0	228.0	262.0					8																	124714886		2203	4300	6503	SO:0001583	missense	312				cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding	g.chr8:124714886C>A	Z11502	CCDS34939.1, CCDS47917.1	8q24.13	2005-11-09			ENSG00000104537	ENSG00000104537		"""Annexins"""	536	protein-coding gene	gene with protein product		602573		ANX13		9503022	Standard	NM_004306		Approved		uc003yqt.3	P27216	OTTHUMG00000164987	ENST00000419625.1:c.182G>T	8.37:g.124714886C>A	ENSP00000390809:p.Gly61Val					ANXA13_uc003yqt.2_Missense_Mutation_p.G102V	p.G61V	NM_004306	NP_004297	P27216	ANX13_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		3	255	-	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		61			Annexin 1.		Q9BQR5	Missense_Mutation	SNP	ENST00000419625.1	37	c.182G>T	CCDS47917.1	.	.	.	.	.	.	.	.	.	.	C	19.72	3.879550	0.72294	.	.	ENSG00000104537	ENST00000262219;ENST00000419625;ENST00000520519	T;T;T	0.05513	3.43;3.43;3.43	5.28	5.28	0.74379	Annexin repeat, conserved site (1);	0.092958	0.85682	D	0.000000	T	0.34337	0.0894	H	0.96398	3.815	0.80722	D	1	D;D	0.69078	0.983;0.997	P;D	0.67382	0.877;0.951	T	0.46693	-0.9173	10	0.87932	D	0	.	11.9059	0.52713	0.0:0.9163:0.0:0.0837	.	61;102	P27216;P27216-2	ANX13_HUMAN;.	V	102;61;32	ENSP00000262219:G102V;ENSP00000390809:G61V;ENSP00000429358:G32V	ENSP00000262219:G102V	G	-	2	0	ANXA13	124784067	1.000000	0.71417	0.994000	0.49952	0.878000	0.50629	3.718000	0.54919	2.479000	0.83701	0.655000	0.94253	GGC		0.507	ANXA13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381308.1		NM_004306		26	102	1	0	1.26612e-14	0.003271	1.3821e-14	26	102		
JRK	8629	broad.mit.edu	37	8	143745928	143745928	+	RNA	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr8:143745928C>T	ENST00000507178.2	-	0	1882							O75564	JERKY_HUMAN	Jrk homolog (mouse)							nucleus (GO:0005634)	DNA binding (GO:0003677)					all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				CACGCAGCGCCCgcagctgcc	0.701																																						uc003ywo.2		NaN																	0					0						c.(1546-1548)CGG>CGA		jerky isoform b							13.0	18.0	16.0					8																	143745928		2150	4261	6411			8629							g.chr8:143745928C>T	AF072467	CCDS75796.1, CCDS75797.1	8q24.3	2014-03-28	2014-03-28			ENSG00000234616			6199	protein-coding gene	gene with protein product		603210	"""jerky (mouse) homolog"", ""jerky homolog (mouse)"""			9675132	Standard	NM_003724		Approved	JH8, jerky	uc003ywo.3	O75564			8.37:g.143745928C>T						JRK_uc003ywp.2_Silent_p.R516R|JRK_uc010mew.1_Missense_Mutation_p.G517E	p.R516R	NM_001077527	NP_001070995					3	2062	-	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)						O75565	Silent	SNP	ENST00000507178.2	37	c.1548G>A																																																																																					0.701	JRK-003	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000362914.1		NM_003724		15	27	0	0	0	0.007413	0	15	27		
FBXL6	26233	broad.mit.edu	37	8	145579794	145579794	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr8:145579794G>T	ENST00000331890.5	-	8	1370	c.1306C>A	c.(1306-1308)Cag>Aag	p.Q436K	SLC52A2_ENST00000527078.1_5'Flank|SLC52A2_ENST00000402965.1_5'Flank|TMEM249_ENST00000398633.3_5'Flank|FBXL6_ENST00000455319.2_Missense_Mutation_p.Q430K|FBXL6_ENST00000526524.1_Intron|SLC52A2_ENST00000329994.2_5'Flank|SLC52A2_ENST00000532887.1_5'Flank|SLC52A2_ENST00000530047.1_5'Flank|SLC52A2_ENST00000540505.1_5'Flank|TMEM249_ENST00000531225.1_5'Flank	NM_012162.2	NP_036294.2	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6	436					protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)		ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CACCACTTCTGGGTCAAAAAG	0.592																																						uc003zcb.2		NaN																	0				ovary(1)|lung(1)	2						c.(1306-1308)CAG>AAG		F-box and leucine-rich repeat protein 6 isoform							69.0	76.0	73.0					8																	145579794		2203	4299	6502	SO:0001583	missense	26233				proteolysis		ubiquitin-protein ligase activity	g.chr8:145579794G>T	AF174592	CCDS6422.1, CCDS47942.1	8q24.3	2011-06-09			ENSG00000182325	ENSG00000182325		"""F-boxes / Leucine-rich repeats"""	13603	protein-coding gene	gene with protein product		609076				10531035, 10531037	Standard	NM_012162		Approved	FBL6	uc003zcb.3	Q8N531	OTTHUMG00000165169	ENST00000331890.5:c.1306C>A	8.37:g.145579794G>T	ENSP00000330098:p.Gln436Lys					C8ORFK29_uc011llb.1_5'Flank|C8ORFK29_uc010mfw.2_5'Flank|C8ORFK29_uc003zby.3_5'Flank|FBXL6_uc003zbz.2_Missense_Mutation_p.Q163K|FBXL6_uc003zca.2_Missense_Mutation_p.Q430K|FBXL6_uc010mfx.2_Missense_Mutation_p.Q197K|GPR172A_uc003zcc.1_5'Flank|GPR172A_uc003zcd.1_5'Flank|GPR172A_uc003zce.1_5'Flank|GPR172A_uc010mfy.1_5'Flank|GPR172A_uc003zcf.1_5'Flank|GPR172A_uc011llc.1_5'Flank	p.Q436K	NM_012162	NP_036294	Q8N531	FBXL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		8	1331	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		436			LRR 9.		Q53G43|Q9H5W9|Q9UKC7	Missense_Mutation	SNP	ENST00000331890.5	37	c.1306C>A	CCDS6422.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.376270	0.24857	.	.	ENSG00000182325	ENST00000455319;ENST00000331890	T;T	0.24151	1.88;1.87	5.13	3.04	0.35103	.	0.612082	0.16879	N	0.195799	T	0.14184	0.0343	L	0.41906	1.305	0.23435	N	0.997682	B;B	0.33171	0.278;0.4	B;B	0.26969	0.034;0.075	T	0.16453	-1.0402	10	0.09338	T	0.73	-2.0714	5.1293	0.14901	0.3015:0.0:0.6985:0.0	.	436;430	Q8N531;Q8N531-2	FBXL6_HUMAN;.	K	430;436	ENSP00000403873:Q430K;ENSP00000330098:Q436K	ENSP00000330098:Q436K	Q	-	1	0	FBXL6	145550602	0.675000	0.27558	0.988000	0.46212	0.801000	0.45260	1.073000	0.30691	1.133000	0.42147	0.563000	0.77884	CAG		0.592	FBXL6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382413.1		NM_024555		58	105	1	0	1.53134e-21	0.00361	1.70193e-21	58	105		
INSL4	3641	broad.mit.edu	37	9	5231528	5231528	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr9:5231528C>T	ENST00000239316.4	+	1	110	c.5C>T	c.(4-6)gCc>gTc	p.A2V		NM_002195.1	NP_002186.1	Q14641	INSL4_HUMAN	insulin-like 4 (placenta)	2					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|female pregnancy (GO:0007565)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	insulin-like growth factor receptor binding (GO:0005159)|receptor binding (GO:0005102)			endometrium(2)|lung(2)|skin(1)|urinary_tract(1)	6	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)		TCCAGGATGGCCAGCCTGTTC	0.557																																						uc003ziy.2		NaN																	0					0						c.(4-6)GCC>GTC		insulin-like 4 precursor							71.0	65.0	67.0					9																	5231528		2203	4300	6503	SO:0001583	missense	3641				cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction	extracellular space|soluble fraction	hormone activity|insulin-like growth factor receptor binding	g.chr9:5231528C>T		CCDS6459.1	9p24	2008-02-05			ENSG00000120211	ENSG00000120211			6087	protein-coding gene	gene with protein product		600910				8666396, 9730618	Standard	NM_002195		Approved	EPIL	uc003ziy.3	Q14641	OTTHUMG00000019494	ENST00000239316.4:c.5C>T	9.37:g.5231528C>T	ENSP00000239316:p.Ala2Val						p.A2V	NM_002195	NP_002186	Q14641	INSL4_HUMAN		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)	1	110	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)	2					A8K678|Q5W127	Missense_Mutation	SNP	ENST00000239316.4	37	c.5C>T	CCDS6459.1	.	.	.	.	.	.	.	.	.	.	C	4.081	0.013021	0.07912	.	.	ENSG00000120211	ENST00000239316	T	0.20069	2.1	2.26	0.00927	0.14078	.	1.076190	0.07529	U	0.911821	T	0.09335	0.0230	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33599	-0.9862	10	0.39692	T	0.17	.	2.532	0.04705	0.3821:0.4259:0.0:0.192	.	2	Q14641	INSL4_HUMAN	V	2	ENSP00000239316:A2V	ENSP00000239316:A2V	A	+	2	0	INSL4	5221528	0.000000	0.05858	0.019000	0.16419	0.052000	0.14988	-1.583000	0.02115	-0.011000	0.14247	0.205000	0.17691	GCC		0.557	INSL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051616.2		NM_002195		28	31	0	0	0	0.005524	0	28	31		
CNTFR	1271	broad.mit.edu	37	9	34557969	34557969	+	Missense_Mutation	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr9:34557969C>A	ENST00000378980.3	-	5	626	c.333G>T	c.(331-333)gaG>gaT	p.E111D	CNTFR_ENST00000351266.4_Missense_Mutation_p.E111D	NM_001207011.1|NM_147164.2	NP_001193940.1|NP_671693.1	P26992	CNTFR_HUMAN	ciliary neurotrophic factor receptor	111	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				brainstem development (GO:0003360)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|skeletal muscle organ development (GO:0060538)|suckling behavior (GO:0001967)	anchored component of membrane (GO:0031225)|CNTFR-CLCF1 complex (GO:0097059)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|cytokine binding (GO:0019955)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1)	15	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		TGAGCACAGGCTCCCGCGGCG	0.627																																						uc003zup.1		NaN																	0				ovary(3)|central_nervous_system(1)|skin(1)	5						c.(331-333)GAG>GAT		ciliary neurotrophic factor receptor							76.0	86.0	83.0					9																	34557969		2203	4300	6503	SO:0001583	missense	1271				nervous system development	anchored to membrane|extrinsic to membrane|plasma membrane	ciliary neurotrophic factor receptor activity|receptor binding	g.chr9:34557969C>A	M73238	CCDS6558.1	9p13	2013-02-11			ENSG00000122756	ENSG00000122756		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2170	protein-coding gene	gene with protein product		118946				1648265	Standard	NM_001842		Approved		uc003zuq.2	P26992	OTTHUMG00000019821	ENST00000378980.3:c.333G>T	9.37:g.34557969C>A	ENSP00000368265:p.Glu111Asp					CNTFR_uc003zuq.1_Missense_Mutation_p.E111D	p.E111D	NM_147164	NP_671693	P26992	CNTFR_HUMAN	STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)	5	614	-	all_epithelial(49;0.0899)		111			Fibronectin type-III 1.		Q5U050	Missense_Mutation	SNP	ENST00000378980.3	37	c.333G>T	CCDS6558.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.299301	0.60195	.	.	ENSG00000122756	ENST00000378980;ENST00000351266;ENST00000417345	T;T;T	0.36699	1.24;1.24;1.24	5.46	1.52	0.23074	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.058549	0.64402	D	0.000004	T	0.40522	0.1120	L	0.59436	1.845	0.33461	D	0.584985	D	0.58268	0.982	P	0.51945	0.685	T	0.53344	-0.8452	9	0.54805	T	0.06	.	7.6157	0.28156	0.0:0.6005:0.0:0.3995	.	111	P26992	CNTFR_HUMAN	D	111	ENSP00000368265:E111D;ENSP00000242338:E111D;ENSP00000388082:E111D	ENSP00000242338:E111D	E	-	3	2	CNTFR	34547969	1.000000	0.71417	0.997000	0.53966	0.914000	0.54420	1.229000	0.32600	0.254000	0.21573	0.484000	0.47621	GAG		0.627	CNTFR-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052176.1				132	252	1	0	2.97109e-61	0.00361	3.46359e-61	132	252		
FOXB2	442425	broad.mit.edu	37	9	79635344	79635344	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr9:79635344G>A	ENST00000376708.1	+	1	774	c.774G>A	c.(772-774)gcG>gcA	p.A258A		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	258	Poly-Ala.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|lung(8)|ovary(1)	10						ctgccgccgcggccgcGGCGT	0.731																																						uc004ako.1		NaN																	0					0						c.(772-774)GCG>GCA		forkhead box B2							13.0	16.0	15.0					9																	79635344		2194	4280	6474	SO:0001819	synonymous_variant	442425				brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:79635344G>A		CCDS35045.1	9q21.2	2008-02-05			ENSG00000204612	ENSG00000204612		"""Forkhead boxes"""	23315	protein-coding gene	gene with protein product							Standard	NM_001013735		Approved	bA159H20.4	uc004ako.1	Q5VYV0	OTTHUMG00000020051	ENST00000376708.1:c.774G>A	9.37:g.79635344G>A							p.A258A	NM_001013735	NP_001013757	Q5VYV0	FOXB2_HUMAN			1	774	+			258			Poly-Ala.			Silent	SNP	ENST00000376708.1	37	c.774G>A	CCDS35045.1																																																																																				0.731	FOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052745.1		NM_001013735		16	20	0	0	0	0.00499	0	16	20		
SYK	6850	broad.mit.edu	37	9	93629433	93629433	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr9:93629433A>G	ENST00000375754.4	+	7	1015	c.867A>G	c.(865-867)atA>atG	p.I289M	SYK_ENST00000375747.1_Intron|SYK_ENST00000375746.1_Missense_Mutation_p.I289M|SYK_ENST00000375751.4_Intron	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	289	Interdomain B.				activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|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)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032)	B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						CGGGTGGAATAATCTCAAGAA	0.463			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""																																	uc004aqz.2		NaN		Dom	yes		9	9q22	6850	T	spleen tyrosine kinase			L	ETV6|ITK		MDS|peripheral T-cell lymphoma		0				lung(2)|stomach(1)|ovary(1)|skin(1)	5						c.(865-867)ATA>ATG		spleen tyrosine kinase isoform 1							178.0	168.0	172.0					9																	93629433		2203	4300	6503	SO:0001583	missense	6850				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity	g.chr9:93629433A>G	L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025		"""SH2 domain containing"""	11491	protein-coding gene	gene with protein product		600085				8082894, 1423621	Standard	XM_005252147		Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.867A>G	9.37:g.93629433A>G	ENSP00000364907:p.Ile289Met					SYK_uc004aqy.2_Missense_Mutation_p.I289M|SYK_uc004ara.2_Intron|SYK_uc004arb.2_Intron|SYK_uc004arc.2_Missense_Mutation_p.I289M|SYK_uc011ltr.1_RNA|SYK_uc011lts.1_RNA|SYK_uc011ltt.1_RNA	p.I289M	NM_003177	NP_003168	P43405	KSYK_HUMAN			7	1072	+			289			Linker.			Missense_Mutation	SNP	ENST00000375754.4	37	c.867A>G	CCDS6688.1	.	.	.	.	.	.	.	.	.	.	A	9.946	1.218721	0.22373	.	.	ENSG00000165025	ENST00000375754;ENST00000375746	T;T	0.73152	-0.72;-0.72	4.24	3.06	0.35304	.	0.376195	0.24162	N	0.040976	T	0.52677	0.1749	L	0.29908	0.895	0.31549	N	0.658929	B;B	0.19817	0.029;0.039	B;B	0.11329	0.006;0.006	T	0.52442	-0.8575	10	0.42905	T	0.14	.	4.8356	0.13464	0.5337:0.1406:0.0:0.3256	.	289;289	P43405;C3W981	KSYK_HUMAN;.	M	289	ENSP00000364907:I289M;ENSP00000364898:I289M	ENSP00000364898:I289M	I	+	3	3	SYK	92669254	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.888000	0.39708	0.927000	0.37143	0.482000	0.46254	ATA		0.463	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053018.1				33	38	0	0	0	0.006999	0	33	38		
WNK2	65268	broad.mit.edu	37	9	96051184	96051184	+	Missense_Mutation	SNP	C	C	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr9:96051184C>G	ENST00000297954.4	+	20	4259	c.4259C>G	c.(4258-4260)cCt>cGt	p.P1420R	WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.P1032R|WNK2_ENST00000395477.2_Missense_Mutation_p.P1383R|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.P995R	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1420					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCCCCAGCCCCTTTGGCCCCC	0.652																																						uc004ati.1		NaN																	0				lung(4)|stomach(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)|breast(1)	12						c.(4258-4260)CCT>CGT		WNK lysine deficient protein kinase 2							9.0	11.0	10.0					9																	96051184		2191	4265	6456	SO:0001583	missense	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:96051184C>G	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.4259C>G	9.37:g.96051184C>G	ENSP00000297954:p.Pro1420Arg					WNK2_uc011lud.1_Missense_Mutation_p.P1383R|WNK2_uc004atj.2_Missense_Mutation_p.P1383R|WNK2_uc004atk.2_Missense_Mutation_p.P1020R|WNK2_uc004atl.1_5'UTR	p.P1420R	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN			20	4259	+			1420					Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	ENST00000297954.4	37	c.4259C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.65|13.65	2.300687|2.300687	0.40694|0.40694	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000432730;ENST00000448251|ENST00000297954;ENST00000395477;ENST00000349097;ENST00000427277	.|T;T;T;T	.|0.59364	.|0.27;0.27;0.27;0.27	5.44|5.44	4.53|4.53	0.55603|0.55603	.|.	.|0.534882	.|0.19806	.|N	.|0.105659	T|T	0.71937|0.71937	0.3399|0.3399	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	.|D;B;P;D	.|0.89917	.|1.0;0.221;0.583;1.0	.|D;B;B;D	.|0.91635	.|0.999;0.039;0.085;0.998	T|T	0.71163|0.71163	-0.4673|-0.4673	5|10	.|0.41790	.|T	.|0.15	.|.	14.8843|14.8843	0.70555|0.70555	0.0:0.8556:0.1444:0.0|0.0:0.8556:0.1444:0.0	.|.	.|1383;986;1383;1420	.|Q9Y3S1-2;A6PVR4;F8W9F9;Q9Y3S1	.|.;.;.;WNK2_HUMAN	V|R	1379;180|1420;1383;1032;995	.|ENSP00000297954:P1420R;ENSP00000378860:P1383R;ENSP00000297876:P1032R;ENSP00000411181:P995R	.|ENSP00000297954:P1420R	L|P	+|+	1|2	0|0	WNK2|WNK2	95091005|95091005	0.110000|0.110000	0.22057|0.22057	0.098000|0.098000	0.21074|0.21074	0.230000|0.230000	0.25150|0.25150	2.737000|2.737000	0.47393|0.47393	1.276000|1.276000	0.44395|0.44395	0.561000|0.561000	0.74099|0.74099	CTT|CCT		0.652	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1		NM_006648		20	13	0	0	0	0.002299	0	20	13		
GRIN3A	116443	broad.mit.edu	37	9	104499615	104499615	+	Missense_Mutation	SNP	A	A	G			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr9:104499615A>G	ENST00000361820.3	-	1	1247	c.647T>C	c.(646-648)cTg>cCg	p.L216P		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	216					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	TGGAATGTGCAGGACTAAGCT	0.627																																						uc004bbp.1		NaN																	0				ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(646-648)CTG>CCG		glutamate receptor, ionotropic,	Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)						75.0	67.0	70.0					9																	104499615		2203	4300	6503	SO:0001583	missense	116443				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	g.chr9:104499615A>G		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.647T>C	9.37:g.104499615A>G	ENSP00000355155:p.Leu216Pro					GRIN3A_uc004bbq.1_Missense_Mutation_p.L216P	p.L216P	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN			1	1248	-		Acute lymphoblastic leukemia(62;0.0568)	216			Extracellular (Potential).		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.647T>C	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	A	18.65	3.670341	0.67814	.	.	ENSG00000198785	ENST00000361820	D	0.86627	-2.15	5.54	4.37	0.52481	.	0.086215	0.47093	D	0.000253	D	0.91219	0.7233	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.91056	0.4882	10	0.66056	D	0.02	.	12.5353	0.56138	0.8606:0.1394:0.0:0.0	.	216	Q8TCU5	NMD3A_HUMAN	P	216	ENSP00000355155:L216P	ENSP00000355155:L216P	L	-	2	0	GRIN3A	103539436	1.000000	0.71417	0.988000	0.46212	0.980000	0.70556	8.765000	0.91724	0.895000	0.36342	0.533000	0.62120	CTG		0.627	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1				38	110	0	0	0	0.00361	0	38	110		
ABCA1	19	broad.mit.edu	37	9	107593948	107593948	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr9:107593948C>T	ENST00000374736.3	-	13	2064	c.1670G>A	c.(1669-1671)cGa>cAa	p.R557Q	ABCA1_ENST00000494467.1_5'Flank	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	557					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	AATGTCCATTCGGATCTTGTA	0.488																																						uc004bcl.2		NaN																	0				large_intestine(4)|lung(4)|ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	17						c.(1669-1671)CGA>CAA		ATP-binding cassette, sub-family A member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						160.0	139.0	146.0					9																	107593948		2203	4300	6503	SO:0001583	missense	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107593948C>T	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.1670G>A	9.37:g.107593948C>T	ENSP00000363868:p.Arg557Gln						p.R557Q	NM_005502	NP_005493	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	13	1983	-			557			Extracellular.		Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	c.1670G>A	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	C	36	5.660661	0.96734	.	.	ENSG00000165029	ENST00000374736	D	0.98747	-5.11	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.99239	0.9735	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.67725	0.953	D	0.99410	1.0930	10	0.87932	D	0	.	19.2105	0.93753	0.0:1.0:0.0:0.0	.	557	O95477	ABCA1_HUMAN	Q	557	ENSP00000363868:R557Q	ENSP00000363868:R557Q	R	-	2	0	ABCA1	106633769	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.553000	0.86117	0.591000	0.81541	CGA		0.488	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1		NM_005502		13	14	0	0	0	0.001855	0	13	14		
ZNF462	58499	broad.mit.edu	37	9	109694734	109694734	+	Missense_Mutation	SNP	G	G	T	rs367596792		TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr9:109694734G>T	ENST00000277225.5	+	5	6309	c.6020G>T	c.(6019-6021)cGt>cTt	p.R2007L	ZNF462_ENST00000542028.1_5'Flank|ZNF462_ENST00000497489.1_3'UTR|ZNF462_ENST00000457913.1_Missense_Mutation_p.R2067L|ZNF462_ENST00000441147.2_Missense_Mutation_p.R913L			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2007					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CAGGGGCTGCGTTCTCATGAG	0.537																																						uc004bcz.2		NaN																	0				ovary(5)	5						c.(6019-6021)CGT>CTT		zinc finger protein 462							120.0	90.0	100.0					9																	109694734		2203	4300	6503	SO:0001583	missense	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109694734G>T	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.6020G>T	9.37:g.109694734G>T	ENSP00000277225:p.Arg2007Leu					ZNF462_uc010mto.2_Missense_Mutation_p.R1916L|ZNF462_uc004bda.2_Missense_Mutation_p.R1915L|ZNF462_uc011lvz.1_5'Flank	p.R2007L	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN			5	6309	+			2007					Q5T0T4|Q8N408	Missense_Mutation	SNP	ENST00000277225.5	37	c.6020G>T	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.985436	0.74589	.	.	ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147	T;T;T;T	0.27402	2.5;1.67;1.67;1.67	4.84	4.84	0.62591	.	0.118865	0.56097	D	0.000035	T	0.41143	0.1146	N	0.19112	0.55	0.80722	D	1	D;D	0.76494	0.985;0.999	P;D	0.79784	0.533;0.993	T	0.25257	-1.0137	10	0.33141	T	0.24	.	18.1371	0.89623	0.0:0.0:1.0:0.0	.	2067;2007	Q96JM2-3;Q96JM2	.;ZN462_HUMAN	L	2007;2067;950;913	ENSP00000277225:R2007L;ENSP00000414570:R2067L;ENSP00000363818:R950L;ENSP00000397306:R913L	ENSP00000277225:R2007L	R	+	2	0	ZNF462	108734555	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.222000	0.95196	2.524000	0.85096	0.591000	0.81541	CGT		0.537	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2		NM_021224		20	59	1	0	6.44725e-10	0.002299	6.79575e-10	20	59		
C9orf152	401546	broad.mit.edu	37	9	112963549	112963549	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr9:112963549G>T	ENST00000400613.4	-	2	1008	c.399C>A	c.(397-399)gaC>gaA	p.D133E	C9orf152_ENST00000473442.1_Intron	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	133										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						GATGACTGGTGTCCTGGGGGG	0.557																																						uc011lwk.1		NaN																	0					0						c.(397-399)GAC>GAA		hypothetical protein LOC401546							153.0	139.0	144.0					9																	112963549		2203	4300	6503	SO:0001583	missense	401546							g.chr9:112963549G>T	BX648620	CCDS35102.2	9q31.3	2012-04-03			ENSG00000188959	ENSG00000188959			31455	protein-coding gene	gene with protein product							Standard	NM_001012993		Approved	bA470J20.2	uc011lwk.2	Q5JTZ5	OTTHUMG00000020478	ENST00000400613.4:c.399C>A	9.37:g.112963549G>T	ENSP00000383456:p.Asp133Glu						p.D133E	NM_001012993	NP_001013011	Q5JTZ5	CI152_HUMAN			2	953	-			133					A8MWT6	Missense_Mutation	SNP	ENST00000400613.4	37	c.399C>A	CCDS35102.2	.	.	.	.	.	.	.	.	.	.	G	0.155	-1.087636	0.01873	.	.	ENSG00000188959	ENST00000400613	.	.	.	4.53	-1.86	0.07760	.	0.719816	0.12751	N	0.442208	T	0.06234	0.0161	N	0.01352	-0.895	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.29640	-1.0005	9	0.06236	T	0.91	-0.6932	0.3029	0.00275	0.2666:0.1669:0.2838:0.2827	.	133	Q5JTZ5	CI152_HUMAN	E	133	.	ENSP00000383456:D133E	D	-	3	2	C9orf152	112003370	0.007000	0.16637	0.013000	0.15412	0.020000	0.10135	-0.049000	0.11924	-0.325000	0.08577	-1.072000	0.02254	GAC		0.557	C9orf152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053602.2		NM_001012993		31	129	1	0	2.51541e-25	0.004878	2.8249e-25	31	129		
TNC	3371	broad.mit.edu	37	9	117846585	117846585	+	Silent	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr9:117846585G>T	ENST00000350763.4	-	4	2445	c.2034C>A	c.(2032-2034)atC>atA	p.I678I	TNC_ENST00000346706.3_Silent_p.I678I|TNC_ENST00000542877.1_Silent_p.I678I|TNC_ENST00000423613.2_Silent_p.I678I|TNC_ENST00000537320.1_Silent_p.I678I|TNC_ENST00000535648.1_Silent_p.I678I|TNC_ENST00000341037.4_Silent_p.I678I|TNC_ENST00000340094.3_Silent_p.I678I|TNC_ENST00000345230.3_Silent_p.I678I	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	678	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GCTCCTGGATGATGGTGGACG	0.572																																						uc004bjj.3		NaN																	0				central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1)	7						c.(2032-2034)ATC>ATA		tenascin C precursor							104.0	98.0	100.0					9																	117846585		2203	4300	6503	SO:0001819	synonymous_variant	3371				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	g.chr9:117846585G>T		CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.2034C>A	9.37:g.117846585G>T						TNC_uc010mvf.2_Silent_p.I678I	p.I678I	NM_002160	NP_002151	P24821	TENA_HUMAN			4	2396	-			678			Fibronectin type-III 1.		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Silent	SNP	ENST00000350763.4	37	c.2034C>A	CCDS6811.1																																																																																				0.572	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2		NM_002160		14	43	1	0	3.41278e-10	0.00499	3.62397e-10	14	43		
MEGF9	1955	broad.mit.edu	37	9	123421791	123421791	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr9:123421791C>T	ENST00000373930.3	-	2	775	c.664G>A	c.(664-666)Ggg>Agg	p.G222R	MEGF9_ENST00000426959.1_Missense_Mutation_p.G259R	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	222	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.					integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						TCACACTGCCCTGTGGTCTGG	0.478																																						uc004bkj.1		NaN																	0					0						c.(775-777)GGG>AGG		multiple EGF-like-domains 9							46.0	46.0	46.0					9																	123421791		1913	4132	6045	SO:0001583	missense	1955					integral to membrane	calcium ion binding	g.chr9:123421791C>T	AB011542	CCDS48010.1, CCDS48010.2	9q32-q33.3	2008-07-21	2006-03-31	2006-03-31	ENSG00000106780	ENSG00000106780			3234	protein-coding gene	gene with protein product		604268	"""EGF-like-domain, multiple 5"""	EGFL5		9693030	Standard	NM_001080497		Approved		uc022bms.1	Q9H1U4	OTTHUMG00000021039	ENST00000373930.3:c.664G>A	9.37:g.123421791C>T	ENSP00000363040:p.Gly222Arg					MEGF9_uc011lyb.1_Missense_Mutation_p.G214R|MEGF9_uc004bkk.3_Missense_Mutation_p.G214R	p.G259R	NM_001080497	NP_001073966	Q9H1U4	MEGF9_HUMAN			4	775	-			222			Laminin EGF-like 1.|Extracellular (Potential).		B7Z315|O75098	Missense_Mutation	SNP	ENST00000373930.3	37	c.775G>A	CCDS48010.2	.	.	.	.	.	.	.	.	.	.	C	23.6	4.438771	0.83885	.	.	ENSG00000106780	ENST00000373930;ENST00000426959	T;T	0.75821	-0.97;-0.97	5.81	5.81	0.92471	EGF-like, laminin (3);	0.061499	0.64402	D	0.000005	D	0.90532	0.7033	H	0.96460	3.825	0.46564	D	0.9991	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92902	0.6340	10	0.87932	D	0	-7.8892	15.5622	0.76258	0.0:1.0:0.0:0.0	.	222;259	Q9H1U4;C9J1K8	MEGF9_HUMAN;.	R	222;259	ENSP00000363040:G222R;ENSP00000392666:G259R	ENSP00000363040:G222R	G	-	1	0	MEGF9	122461612	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.863000	0.48396	2.750000	0.94351	0.655000	0.94253	GGG		0.478	MEGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055513.1		NM_001080497		8	11	0	0	0	0.006214	0	8	11		
FAM129B	64855	broad.mit.edu	37	9	130280165	130280165	+	Missense_Mutation	SNP	C	C	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr9:130280165C>T	ENST00000373312.3	-	6	858	c.645G>A	c.(643-645)atG>atA	p.M215I	FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Missense_Mutation_p.M202I	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	215					negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						ACTGTCGGTACATGCGGATGG	0.612																																						uc004brh.2		NaN																	0					0						c.(643-645)ATG>ATA		hypothetical protein LOC64855 isoform 1							115.0	82.0	93.0					9																	130280165		2203	4300	6503	SO:0001583	missense	64855						protein binding	g.chr9:130280165C>T	AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"""chromosome 9 open reading frame 88"""	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.645G>A	9.37:g.130280165C>T	ENSP00000362409:p.Met215Ile					FAM129B_uc004bri.2_Missense_Mutation_p.M202I|FAM129B_uc004brj.3_Missense_Mutation_p.M215I	p.M215I	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN			6	847	-			215					Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Missense_Mutation	SNP	ENST00000373312.3	37	c.645G>A	CCDS35145.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.401880	0.42613	.	.	ENSG00000136830	ENST00000373314;ENST00000373312	T;T	0.22336	1.96;1.96	4.84	4.84	0.62591	.	0.052927	0.85682	D	0.000000	T	0.18002	0.0432	L	0.51422	1.61	0.34608	D	0.71721	B;B	0.30146	0.27;0.27	B;B	0.21917	0.037;0.037	T	0.19192	-1.0313	10	0.27082	T	0.32	-46.5956	11.3529	0.49598	0.0:0.8161:0.1839:0.0	.	202;215	Q96TA1-2;Q96TA1	.;NIBL1_HUMAN	I	202;215	ENSP00000362411:M202I;ENSP00000362409:M215I	ENSP00000362409:M215I	M	-	3	0	FAM129B	129319986	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	0.947000	0.29082	2.229000	0.72834	0.561000	0.74099	ATG		0.612	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1		NM_022833		21	30	0	0	0	0.005443	0	21	30		
CLIC3	9022	broad.mit.edu	37	9	139890163	139890163	+	Missense_Mutation	SNP	C	C	G	rs372161131		TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr9:139890163C>G	ENST00000494426.1	-	2	339	c.80G>C	c.(79-81)cGg>cCg	p.R27P	CLIC3_ENST00000480181.1_5'UTR	NM_004669.2	NP_004660.2	O95833	CLIC3_HUMAN	chloride intracellular channel 3	27	GST N-terminal.|Required for insertion into the membrane. {ECO:0000250}.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|signal transduction (GO:0007165)	chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			lung(1)|skin(1)	2	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CATGAAGAGCCGCTGGCAGGA	0.697																																						uc004ckj.1		NaN																	0					0						c.(79-81)CGG>CCG		chloride intracellular channel 3							45.0	40.0	42.0					9																	139890163		2194	4294	6488	SO:0001583	missense	9022				signal transduction	chloride channel complex|cytoplasm|nucleus	protein binding|voltage-gated chloride channel activity	g.chr9:139890163C>G	AF102166	CCDS7021.1	9q34.3	2012-09-26			ENSG00000169583	ENSG00000169583		"""Ion channels / Chloride channels : Intracellular"""	2064	protein-coding gene	gene with protein product		606533				9880541	Standard	NM_004669		Approved		uc004ckj.1	O95833	OTTHUMG00000020954	ENST00000494426.1:c.80G>C	9.37:g.139890163C>G	ENSP00000419378:p.Arg27Pro						p.R27P	NM_004669	NP_004660	O95833	CLIC3_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	2	109	-	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	27			Required for insertion into the membrane (By similarity).|Helical; (Potential).|GST N-terminal.		Q5SPZ7	Missense_Mutation	SNP	ENST00000494426.1	37	c.80G>C	CCDS7021.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.652943	0.88056	.	.	ENSG00000169583	ENST00000494426	T	0.57907	0.37	3.99	3.99	0.46301	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	T	0.79411	0.4441	H	0.94306	3.52	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	D	0.86122	0.1569	10	0.87932	D	0	.	15.014	0.71570	0.0:1.0:0.0:0.0	.	27	O95833	CLIC3_HUMAN	P	27	ENSP00000419378:R27P	ENSP00000419378:R27P	R	-	2	0	CLIC3	139009984	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.026000	0.76455	2.045000	0.60652	0.561000	0.74099	CGG		0.697	CLIC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055173.2		NM_004669		11	31	0	0	0	0.00245	0	11	31		
GRIN1	2902	broad.mit.edu	37	9	140052946	140052946	+	Missense_Mutation	SNP	G	G	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr9:140052946G>T	ENST00000371561.3	+	7	2181	c.1084G>T	c.(1084-1086)Gtg>Ttg	p.V362L	GRIN1_ENST00000315048.3_Missense_Mutation_p.V362L|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371553.3_Missense_Mutation_p.V383L|GRIN1_ENST00000371560.3_Missense_Mutation_p.V383L|GRIN1_ENST00000371559.4_Missense_Mutation_p.V362L|GRIN1_ENST00000371555.4_Missense_Mutation_p.V383L|GRIN1_ENST00000350902.5_Missense_Mutation_p.V362L|GRIN1_ENST00000371546.4_Missense_Mutation_p.V383L|GRIN1_ENST00000371550.4_Missense_Mutation_p.V362L	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	362					adult locomotory behavior (GO:0008344)|calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular calcium ion homeostasis (GO:0006874)|cellular response to manganese ion (GO:0071287)|cerebral cortex development (GO:0021987)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|male mating behavior (GO:0060179)|negative regulation of neuron apoptotic process (GO:0043524)|olfactory learning (GO:0008355)|pons maturation (GO:0021586)|positive regulation of apoptotic process (GO:0043065)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|propylene metabolic process (GO:0018964)|protein tetramerization (GO:0051262)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange (GO:0043576)|regulation of synapse assembly (GO:0051963)|respiratory gaseous exchange (GO:0007585)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to morphine (GO:0043278)|rhythmic process (GO:0048511)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic cleft (GO:0043083)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate binding (GO:0016595)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|voltage-gated cation channel activity (GO:0022843)			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCGCAAGCTGGTGCAAGTGGG	0.617																																					NSCLC(113;717 1653 2089 20474 37618)	uc004clk.2		NaN																	0				skin(1)	1						c.(1084-1086)GTG>TTG		NMDA receptor 1 isoform NR1-3 precursor	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)						92.0	86.0	88.0					9																	140052946		2203	4300	6503	SO:0001583	missense	2902				ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding	g.chr9:140052946G>T		CCDS7031.1, CCDS7032.1, CCDS43910.1, CCDS55354.1, CCDS55355.1	9q34.3	2013-01-11			ENSG00000176884	ENSG00000176884		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4584	protein-coding gene	gene with protein product		138249	"""N-methyl-D-aspartate receptor subunit NR1"""	NMDAR1		1350383	Standard	NM_000832		Approved	GluN1	uc004cln.3	Q05586	OTTHUMG00000020976	ENST00000371561.3:c.1084G>T	9.37:g.140052946G>T	ENSP00000360616:p.Val362Leu					GRIN1_uc004cli.1_Missense_Mutation_p.V37L|GRIN1_uc004clj.1_Missense_Mutation_p.V359L|GRIN1_uc004cll.2_Missense_Mutation_p.V362L|GRIN1_uc004clm.2_Missense_Mutation_p.V362L|GRIN1_uc004cln.2_Missense_Mutation_p.V380L|GRIN1_uc004clo.2_Missense_Mutation_p.V380L	p.V362L	NM_007327	NP_015566	Q05586	NMDZ1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	7	1414	+	all_cancers(76;0.0926)		362			Extracellular (Potential).		A6NLK7|A6NLR1|C9K0X1|P35437|Q12867|Q12868|Q5VSF3|Q5VSF4|Q5VSF5|Q5VSF6|Q5VSF7|Q5VSF8|Q9UPF8|Q9UPF9	Missense_Mutation	SNP	ENST00000371561.3	37	c.1084G>T	CCDS7031.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.769262	0.49680	.	.	ENSG00000176884	ENST00000371561;ENST00000315048;ENST00000350902;ENST00000371550;ENST00000371546;ENST00000371555;ENST00000371553;ENST00000371559;ENST00000371560	T;T;T;T;T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83;1.83;1.83;1.83;1.83	4.57	4.57	0.56435	.	0.351400	0.28809	N	0.014072	T	0.26304	0.0642	L	0.55990	1.75	0.58432	D	0.999998	B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.08055	0.002;0.002;0.002;0.003;0.001;0.002	T	0.04885	-1.0920	10	0.24483	T	0.36	.	15.8969	0.79341	0.0:0.0:1.0:0.0	.	383;383;362;362;362;362	Q5VSF4;Q5VSF5;Q05586-2;Q05586-3;Q05586;A2AVK2	.;.;.;.;NMDZ1_HUMAN;.	L	362;362;362;362;383;383;383;362;383	ENSP00000360616:V362L;ENSP00000316696:V362L;ENSP00000316915:V362L;ENSP00000360605:V362L;ENSP00000360601:V383L;ENSP00000360610:V383L;ENSP00000360608:V383L;ENSP00000360614:V362L;ENSP00000360615:V383L	ENSP00000316696:V362L	V	+	1	0	GRIN1	139172767	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.058000	0.64300	2.087000	0.62958	0.561000	0.74099	GTG		0.617	GRIN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055267.3		NM_007327		25	80	1	0	1.16021e-09	0.007291	1.21992e-09	25	80		
SSNA1	8636	broad.mit.edu	37	9	140083594	140083594	+	Silent	SNP	G	G	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr9:140083594G>A	ENST00000322310.5	+	2	209	c.129G>A	c.(127-129)ctG>ctA	p.L43L	ANAPC2_ENST00000323927.2_5'Flank|SSNA1_ENST00000459860.1_3'UTR	NM_003731.2	NP_003722.2	O43805	SSNA1_HUMAN	Sjogren syndrome nuclear autoantigen 1	43					ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport (GO:0042073)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|nucleus (GO:0005634)				breast(2)|kidney(1)|large_intestine(1)|lung(2)	6	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.43e-05)|Epithelial(140;0.00087)		AGCAGCGGCTGCAGAATGAGG	0.657																																						uc004cls.2		NaN																	0				breast(1)	1						c.(127-129)CTG>CTA		nuclear autoantigen of 14 kDa							31.0	25.0	27.0					9																	140083594		2195	4292	6487	SO:0001819	synonymous_variant	8636				G2/M transition of mitotic cell cycle	centrosome|cytosol|nucleus		g.chr9:140083594G>A	Z96932	CCDS7034.1	9q34.3	2008-02-05	2007-10-04		ENSG00000176101	ENSG00000176101			11321	protein-coding gene	gene with protein product		610882	"""Sjogren's syndrome nuclear autoantigen 1"""			9430706	Standard	NM_003731		Approved	NA14, N14	uc004cls.2	O43805	OTTHUMG00000020982	ENST00000322310.5:c.129G>A	9.37:g.140083594G>A						ANAPC2_uc004clq.1_5'Flank|ANAPC2_uc004clr.1_5'Flank|ANAPC2_uc011mer.1_5'Flank	p.L43L	NM_003731	NP_003722	O43805	SSNA1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.43e-05)|Epithelial(140;0.00087)	2	254	+	all_cancers(76;0.0926)		43			Potential.		Q5VSG0|Q6FG70|Q9BVW8	Silent	SNP	ENST00000322310.5	37	c.129G>A	CCDS7034.1																																																																																				0.657	SSNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055311.1		NM_003731		23	30	0	0	0	0.00333	0	23	30		
ARRDC1	92714	broad.mit.edu	37	9	140508609	140508609	+	Silent	SNP	C	C	G	rs145510266		TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr9:140508609C>G	ENST00000371421.4	+	5	625	c.561C>G	c.(559-561)gcC>gcG	p.A187A	C9orf37_ENST00000496793.1_5'Flank|ARRDC1_ENST00000491911.1_3'UTR	NM_152285.2	NP_689498.1	Q8N5I2	ARRD1_HUMAN	arrestin domain containing 1	187						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)		AGCTGCATGCCGACGTTGAGA	0.642																																						uc004cns.2		NaN																	0					0						c.(559-561)GCC>GCG		arrestin domain containing 1							119.0	112.0	114.0					9																	140508609		2203	4300	6503	SO:0001819	synonymous_variant	92714							g.chr9:140508609C>G	AJ420420	CCDS7049.1	9q34.3	2013-10-11			ENSG00000197070	ENSG00000197070			28633	protein-coding gene	gene with protein product	"""alpha-arrestin 1"""					23886940	Standard	XM_005266119		Approved	MGC40555	uc004cns.3	Q8N5I2	OTTHUMG00000020993	ENST00000371421.4:c.561C>G	9.37:g.140508609C>G						ARRDC1_uc004cnt.2_Silent_p.A62A|ARRDC1_uc004cnu.2_RNA|ARRDC1_uc004cnv.2_Silent_p.A167A|ARRDC1_uc004cnw.2_Silent_p.A62A|ARRDC1_uc004cnp.1_Silent_p.A187A|ARRDC1_uc004cnq.1_Silent_p.A169A|ARRDC1_uc011mfb.1_Silent_p.A62A|ARRDC1_uc004cnx.1_Silent_p.A62A|ARRDC1_uc004cny.2_RNA	p.A187A	NM_152285	NP_689498	Q8N5I2	ARRD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000273)|Epithelial(140;0.000464)	5	635	+	all_cancers(76;0.106)		187						Silent	SNP	ENST00000371421.4	37	c.561C>G	CCDS7049.1																																																																																				0.642	ARRDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055358.1		NM_152285		340	356	0	0	0	0.00361	0	340	356		
FANCB	2187	broad.mit.edu	37	X	14863348	14863348	+	Silent	SNP	C	C	A			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chrX:14863348C>A	ENST00000324138.3	-	7	1710	c.1557G>T	c.(1555-1557)cgG>cgT	p.R519R	FANCB_ENST00000398334.1_Silent_p.R519R	NM_152633.2	NP_689846.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	519					DNA repair (GO:0006281)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					ACTTTAGAAGCCGAAATCTGG	0.388								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													uc004cwg.1		NaN																	0				lung(1)	1						c.(1555-1557)CGG>CGT	Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi anemia complementation group B							77.0	76.0	76.0					X																	14863348		2202	4299	6501	SO:0001819	synonymous_variant	2187	Fanconi_Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	nucleoplasm		g.chrX:14863348C>A	AK091383	CCDS14161.1	Xp22.2	2014-09-17			ENSG00000181544	ENSG00000181544		"""Fanconi anemia, complementation groups"""	3583	protein-coding gene	gene with protein product		300515				9382107, 15502827	Standard	NM_152633		Approved	FAB, FLJ34064, FAAP95	uc004cwh.1	Q8NB91	OTTHUMG00000021168	ENST00000324138.3:c.1557G>T	X.37:g.14863348C>A						FANCB_uc004cwh.1_Silent_p.R519R	p.R519R	NM_001018113	NP_001018123	Q8NB91	FANCB_HUMAN			8	1825	-	Hepatocellular(33;0.183)		519					B2RMZ4|Q7Z2U2|Q86XG1	Silent	SNP	ENST00000324138.3	37	c.1557G>T	CCDS14161.1																																																																																				0.388	FANCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055835.1		NM_152633		19	6	1	0	4.35082e-09	0.010504	4.56357e-09	19	6		
KDM6A	7403	broad.mit.edu	37	X	44922670	44922670	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08			A	T	A	A		Valid	Somatic	Phase_I	WXS	Fluidigm;RNASeq;WGS			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chrX:44922670A>T	ENST00000377967.4	+	16	1572	c.1531A>T	c.(1531-1533)Aga>Tga	p.R511*	KDM6A_ENST00000536777.1_Nonsense_Mutation_p.R466*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.R432*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.R518*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	511	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TTGACAGATGAGACCAACAGG	0.433			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	uc004dge.3		NaN		Rec	yes		X	Xp11.2	7403	D|N|F|S	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			renal|oesophageal SCC|MM		8	Whole gene deletion(6)|No detectable mRNA/protein(2)		haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|breast(2)|pancreas(2)	kidney(24)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(11)|large_intestine(7)|lung(5)|breast(4)|central_nervous_system(3)|urinary_tract(3)|endometrium(2)|pancreas(2)	84						c.(1531-1533)AGA>TGA		ubiquitously transcribed tetratricopeptide							66.0	60.0	62.0					X																	44922670		2201	4296	6497	SO:0001587	stop_gained	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44922670A>T	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.1531A>T	X.37:g.44922670A>T	ENSP00000367203:p.Arg511*					KDM6A_uc010nhk.2_Nonsense_Mutation_p.R477*|KDM6A_uc011mkz.1_Nonsense_Mutation_p.R563*|KDM6A_uc011mla.1_Nonsense_Mutation_p.R466*|KDM6A_uc011mlb.1_Nonsense_Mutation_p.R518*|KDM6A_uc011mlc.1_Nonsense_Mutation_p.R215*|KDM6A_uc011mld.1_Nonsense_Mutation_p.R150*	p.R511*	NM_021140	NP_066963	O15550	KDM6A_HUMAN			16	1906	+			511					Q52LL9|Q5JVQ7	Nonsense_Mutation	SNP	ENST00000377967.4	37	c.1531A>T	CCDS14265.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	A|A|A	27.2|27.2|27.2	4.808414|4.808414|4.808414	0.90707|0.90707|0.90707	.|.|.	.|.|.	ENSG00000147050|ENSG00000147050|ENSG00000147050	ENST00000414389;ENST00000433797|ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216;ENST00000535688|ENST00000451692	.|.|.	.|.|.	.|.|.	5.04|5.04|5.04	5.04|5.04|5.04	0.67666|0.67666|0.67666	.|.|.	.|0.044774|.	.|0.85682|.	.|D|.	.|0.000000|.	T|.|.	0.64994|.|.	0.2649|.|.	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|.|.	0.71411|.|.	-0.4601|.|.	3|.|.	.|0.02654|.	.|T|.	.|1|.	-7.2379|-7.2379|-7.2379	14.0915|14.0915|14.0915	0.64993|0.64993|0.64993	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.|.	.|.|.	.|.|.	.|.|.	V|X|C	108;153|208;511;466;518;432;104|140	.|.|.	.|ENSP00000334340:R208X|.	E|R|X	+|+|+	2|1|3	0|2|0	KDM6A|KDM6A|KDM6A	44807614|44807614|44807614	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.767000|0.767000|0.767000	0.43475|0.43475|0.43475	6.869000|6.869000|6.869000	0.75521|0.75521|0.75521	1.773000|1.773000|1.773000	0.52216|0.52216|0.52216	0.417000|0.417000|0.417000	0.27973|0.27973|0.27973	GAG|AGA|TGA		0.433	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1		NM_021140		42	8	0	0	0	0.00361	0	42	8		
AKAP4	8852	broad.mit.edu	37	X	49957631	49957631	+	Missense_Mutation	SNP	A	A	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chrX:49957631A>C	ENST00000376056.2	-	5	1856	c.1706T>G	c.(1705-1707)aTg>aGg	p.M569R	AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Missense_Mutation_p.M195R|AKAP4_ENST00000358526.2_Missense_Mutation_p.M578R|AKAP4_ENST00000376064.3_Missense_Mutation_p.M569R					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					ACTCTGAGCCATATAGCCCAT	0.483																																						uc004dow.1		NaN																	0				kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1)	8						c.(1732-1734)ATG>AGG		A-kinase anchor protein 4 isoform 1							121.0	95.0	104.0					X																	49957631		2203	4300	6503	SO:0001583	missense	8852				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	g.chrX:49957631A>C	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.1706T>G	X.37:g.49957631A>C	ENSP00000365224:p.Met569Arg					AKAP4_uc004dov.1_Missense_Mutation_p.M195R|AKAP4_uc010njp.1_Missense_Mutation_p.M400R|AKAP4_uc004dou.1_Missense_Mutation_p.M569R	p.M578R	NM_003886	NP_003877	Q5JQC9	AKAP4_HUMAN			5	1857	-	Ovarian(276;0.236)		578						Missense_Mutation	SNP	ENST00000376056.2	37	c.1733T>G	CCDS14330.1	.	.	.	.	.	.	.	.	.	.	A	8.921	0.961050	0.18583	.	.	ENSG00000147081	ENST00000376056;ENST00000376058;ENST00000358526;ENST00000376064;ENST00000448865	T;T;T;T;T	0.42131	2.71;1.43;2.7;2.71;0.98	5.07	2.7	0.31948	A-kinase anchor 110kDa, C-terminal (1);	0.573510	0.17025	N	0.189979	T	0.41971	0.1182	L	0.57536	1.79	0.09310	N	1	B;D	0.53619	0.411;0.961	B;P	0.48677	0.239;0.586	T	0.24440	-1.0160	9	.	.	.	-3.4369	5.4666	0.16646	0.7735:0.0:0.2265:0.0	.	578;195	Q5JQC9;A6ND82	AKAP4_HUMAN;.	R	569;195;578;569;195	ENSP00000365224:M569R;ENSP00000365226:M195R;ENSP00000351327:M578R;ENSP00000365232:M569R;ENSP00000402403:M195R	.	M	-	2	0	AKAP4	49844371	0.033000	0.19621	0.007000	0.13788	0.539000	0.34962	1.311000	0.33562	0.609000	0.30018	0.427000	0.28365	ATG		0.483	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1		NM_003886		16	8	0	0	0	0.004007	0	16	8		
MAP3K6	9064	broad.mit.edu	37	1	27683217	27683233	+	Frame_Shift_Del	DEL	GTGAGACCGCCTCCTTC	GTGAGACCGCCTCCTTC	-	rs552271487|rs185283574	byFrequency	TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:27683217_27683233delGTGAGACCGCCTCCTTC	ENST00000493901.1	-	26	3611_3627	c.3372_3388delGAAGGAGGCGGTCTCAC	c.(3370-3390)gagaaggaggcggtctcaccgfs	p.EKEAVSP1124fs	MAP3K6_ENST00000374040.3_Frame_Shift_Del_p.EKEAVSP1116fs|MAP3K6_ENST00000357582.2_Frame_Shift_Del_p.EKEAVSP1124fs	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	1124					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TCTGACCTCGGTGAGACCGCCTCCTTCTCCACCTCTG	0.664																																						uc001bny.1		NaN																	0				breast(4)|lung(3)|ovary(1)|central_nervous_system(1)	9						c.(3370-3390)GAGAAGGAGGCGGTCTCACCGfs		mitogen-activated protein kinase kinase kinase																																				SO:0001589	frameshift_variant	9064				activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity	g.chr1:27683217_27683233delGTGAGACCGCCTCCTTC	AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6858	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 2"""	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.3372_3388delGAAGGAGGCGGTCTCAC	1.37:g.27683217_27683233delGTGAGACCGCCTCCTTC	ENSP00000419591:p.Glu1124fs					MAP3K6_uc009vsw.1_Frame_Shift_Del_p.E1116fs	p.E1124fs	NM_004672	NP_004663	O95382	M3K6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)	25	3621_3637	-		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1124_1130					A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Frame_Shift_Del	DEL	ENST00000493901.1	37	c.3372_3388delGAAGGAGGCGGTCTCAC	CCDS299.1																																																																																				0.664	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013469.2		NM_004672		7	64	NaN	NaN	NaN	NaN	NaN	7	64	---	---
TCHH	7062	broad.mit.edu	37	1	152082957	152082959	+	In_Frame_Del	DEL	CTC	CTC	-	rs143222885	byFrequency	TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr1:152082957_152082959delCTC	ENST00000368804.1	-	2	2733_2735	c.2734_2736delGAG	c.(2734-2736)gagdel	p.E912del		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	912	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTCTGTAGCTCCTCCTCCTCC	0.586																																						uc001ezp.2		NaN																	0				ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(2734-2736)GAGdel		trichohyalin																																				SO:0001651	inframe_deletion	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152082957_152082959delCTC	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.2734_2736delGAG	1.37:g.152082966_152082968delCTC	ENSP00000357794:p.Glu912del					TCHH_uc009wne.1_In_Frame_Del_p.E912del	p.E912del	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	2734_2736	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		912			4-1.|10 X 30 AA tandem repeats.		Q5VUI3	In_Frame_Del	DEL	ENST00000368804.1	37	c.2734_2736delGAG	CCDS41396.1																																																																																				0.586	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2		NM_007113		10	170	NaN	NaN	NaN	NaN	NaN	10	170	---	---
IFIT2	3433	broad.mit.edu	37	10	91065822	91065822	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr10:91065822delA	ENST00000371826.3	+	2	278	c.109delA	c.(109-111)aaafs	p.K37fs	LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	37					apoptotic mitochondrial changes (GO:0008637)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of protein binding (GO:0032091)|positive regulation of apoptotic process (GO:0043065)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				TTTTGAAGACAAAGTATTTTA	0.438																																						uc009xts.2		NaN																	0				ovary(1)|skin(1)	2						c.(109-111)AAAfs		interferon-induced protein with							69.0	73.0	72.0					10																	91065822		2019	4214	6233	SO:0001589	frameshift_variant	3433				negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding	g.chr10:91065822delA	M14660	CCDS41548.1	10q23.31	2013-01-11			ENSG00000119922	ENSG00000119922		"""Tetratricopeptide (TTC) repeat domain containing"""	5409	protein-coding gene	gene with protein product		147040		IFI54, G10P2		3175763, 3360121	Standard	NM_001547		Approved	IFI-54, ISG-54K, cig42, GARG-39	uc009xts.3	P09913	OTTHUMG00000018707	ENST00000371826.3:c.109delA	10.37:g.91065822delA	ENSP00000360891:p.Lys37fs					LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron	p.K37fs	NM_001547	NP_001538	P09913	IFIT2_HUMAN			2	284	+		Colorectal(252;0.0161)	37					Q5T767	Frame_Shift_Del	DEL	ENST00000371826.3	37	c.109delA	CCDS41548.1																																																																																				0.438	IFIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049293.1		NM_001547		22	13	NaN	NaN	NaN	NaN	NaN	22	13	---	---
LRFN4	78999	broad.mit.edu	37	11	66625231	66625233	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr11:66625231_66625233delCTG	ENST00000309602.4	+	1	259_261	c.16_18delCTG	c.(16-18)ctgdel	p.L10del	PC_ENST00000393958.2_Intron|LRFN4_ENST00000531590.1_3'UTR|LRFN4_ENST00000393952.3_In_Frame_Del_p.L10del|PC_ENST00000393955.2_Intron|PC_ENST00000393960.1_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	10						integral component of membrane (GO:0016021)				breast(1)|lung(1)|prostate(1)	3						CCCGCCGCTCCTGCTGCTGCTGC	0.719																																						uc001ojr.2		NaN																	0					0						c.(16-18)CTGdel		leucine rich repeat and fibronectin type III			,,,	48,4006		2,44,1981					,,,	0.9	1.0			14	131,7663		10,111,3776	no	coding,intron,intron,intron	PC,LRFN4	NM_024036.4,NM_022172.2,NM_001040716.1,NM_000920.3	,,,	12,155,5757	A1A1,A1R,RR		1.6808,1.184,1.5108	,,,	,,,		179,11669				SO:0001651	inframe_deletion	78999					integral to membrane		g.chr11:66625231_66625233delCTG	BC007718	CCDS8153.1	11q13.1	2013-02-11				ENSG00000173621		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28456	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 6"""	612810				16495444, 16828986	Standard	NM_024036		Approved	MGC3103, SALM3., FIGLER6	uc001ojr.3	Q6PJG9		ENST00000309602.4:c.16_18delCTG	11.37:g.66625240_66625242delCTG	ENSP00000312535:p.Leu10del					PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron|LRFN4_uc001ojq.1_In_Frame_Del_p.L10del|LRFN4_uc001ojs.2_In_Frame_Del_p.L10del	p.L10del	NM_024036	NP_076941	Q6PJG9	LRFN4_HUMAN			1	356_358	+			10					Q4VBZ3|Q59GV4|Q8N644|Q9BWJ0	In_Frame_Del	DEL	ENST00000309602.4	37	c.16_18delCTG	CCDS8153.1																																																																																				0.719	LRFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393127.1		NM_024036		7	110	NaN	NaN	NaN	NaN	NaN	7	110	---	---
IFFO1	25900	broad.mit.edu	37	12	6649704	6649706	+	In_Frame_Del	DEL	GGC	GGC	-	rs144019095		TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr12:6649704_6649706delGGC	ENST00000396840.2	-	9	1664_1666	c.1623_1625delGCC	c.(1621-1626)ccgcca>cca	p.541_542PP>P	RP5-940J5.8_ENST00000499202.2_RNA|IFFO1_ENST00000336604.4_In_Frame_Del_p.544_545PP>P|IFFO1_ENST00000436152.2_In_Frame_Del_p.238_239PP>P|RP5-940J5.9_ENST00000602946.1_RNA|IFFO1_ENST00000356896.4_In_Frame_Del_p.545_546PP>P|IFFO1_ENST00000465801.1_In_Frame_Del_p.237_238PP>P			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	541	Poly-Pro.					intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						AGCCTCGCTTGGCGGCGGCGGCG	0.601																																						uc001qpd.1		NaN																	0					0						c.(1621-1626)CCGCCA>CCA		intermediate filament family orphan isoform 2																																				SO:0001651	inframe_deletion	25900					intermediate filament		g.chr12:6649704_6649706delGGC	AF124432	CCDS8550.1, CCDS41741.1, CCDS8550.2, CCDS73425.1	12p13.31	2013-01-16	2008-09-11	2008-09-11	ENSG00000010295	ENSG00000010295		"""Intermediate filament family orphans"""	24970	protein-coding gene	gene with protein product		610495	"""intermediate filament family orphan"""	IFFO		8771189, 3052284	Standard	NM_001193457		Approved	HOM-TES-103	uc010sfe.2	Q0D2I5	OTTHUMG00000141264	ENST00000396840.2:c.1623_1625delGCC	12.37:g.6649713_6649715delGGC	ENSP00000380052:p.Pro542del					IFFO1_uc001qoy.2_RNA|IFFO1_uc001qpa.1_In_Frame_Del_p.181_182PP>P|IFFO1_uc001qpb.1_In_Frame_Del_p.218_219PP>P|IFFO1_uc001qpe.1_RNA|IFFO1_uc010sfe.1_In_Frame_Del_p.553_554PP>P|IFFO1_uc001qpf.1_In_Frame_Del_p.544_545PP>P|IFFO1_uc001qoz.1_In_Frame_Del_p.182_183PP>P|IFFO1_uc001qpc.1_In_Frame_Del_p.545_546PP>P|IFFO1_uc001qpg.2_In_Frame_Del_p.R181del	p.541_542PP>P	NM_080730	NP_542768	Q0D2I5	IFFO1_HUMAN			9	1657_1659	-			541_542			Poly-Pro.		Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	In_Frame_Del	DEL	ENST00000396840.2	37	c.1623_1625delGCC																																																																																					0.601	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000280428.1		NM_080730		14	188	NaN	NaN	NaN	NaN	NaN	14	188	---	---
CLDN10	9071	broad.mit.edu	37	13	96205153	96205168	+	Frame_Shift_Del	DEL	TGTGGAAGGCGTGCGT	TGTGGAAGGCGTGCGT	-	rs201714839		TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr13:96205153_96205168delTGTGGAAGGCGTGCGT	ENST00000299339.2	+	1	175_190	c.146_161delTGTGGAAGGCGTGCGT	c.(145-162)ctgtggaaggcgtgcgttfs	p.LWKACV49fs	CLDN10_ENST00000376873.3_Intron	NM_006984.4	NP_008915.1	P78369	CLD10_HUMAN	claudin 10	49					calcium-independent cell-cell adhesion (GO:0016338)|cell adhesion (GO:0007155)|ion transport (GO:0006811)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			TGGGCCAACCTGTGGAAGGCGTGCGTTACCGACTCC	0.644																																						uc001vmh.2		NaN																	0				ovary(1)	1						c.(145-162)CTGTGGAAGGCGTGCGTTfs		claudin 10 isoform b																																				SO:0001589	frameshift_variant	9071				calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr13:96205153_96205168delTGTGGAAGGCGTGCGT	U89916	CCDS9475.1, CCDS9476.1	13q31-q34	2008-07-18			ENSG00000134873	ENSG00000134873		"""Claudins"""	2033	protein-coding gene	gene with protein product						18025272	Standard	NM_182848		Approved	OSP-L, CPETRL3	uc001vmh.2	P78369	OTTHUMG00000017217	ENST00000299339.2:c.146_161delTGTGGAAGGCGTGCGT	13.37:g.96205153_96205168delTGTGGAAGGCGTGCGT	ENSP00000299339:p.Leu49fs					CLDN10_uc001vmg.2_Intron|CLDN10_uc010tii.1_Intron	p.L49fs	NM_006984	NP_008915	P78369	CLD10_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.18)		1	207_222	+	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		49_54			Extracellular (Potential).		Q6IBF9|Q96N78	Frame_Shift_Del	DEL	ENST00000299339.2	37	c.146_161delTGTGGAAGGCGTGCGT	CCDS9476.1																																																																																				0.644	CLDN10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045484.1		NM_006984		24	210	NaN	NaN	NaN	NaN	NaN	24	210	---	---
FAM155A	728215	broad.mit.edu	37	13	108518687	108518689	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr13:108518687_108518689delCTG	ENST00000375915.2	-	1	394_396	c.256_258delCAG	c.(256-258)cagdel	p.Q86del		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	86	Poly-Gln.					integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						gccgctgcctctgctgctgctgc	0.719																																						uc001vql.2		NaN																	0				skin(1)	1						c.(256-258)CAGdel		family with sequence similarity 155, member A																																				SO:0001651	inframe_deletion	728215					integral to membrane	binding	g.chr13:108518687_108518689delCTG	L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.256_258delCAG	13.37:g.108518696_108518698delCTG	ENSP00000365080:p.Gln86del						p.Q86del	NM_001080396	NP_001073865	B1AL88	F155A_HUMAN			1	772_774	-			86			Poly-Gln.		B2RUV1|B7Z334	In_Frame_Del	DEL	ENST00000375915.2	37	c.256_258delCAG	CCDS32006.1																																																																																				0.719	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045736.2		NM_001080396		8	85	NaN	NaN	NaN	NaN	NaN	8	85	---	---
CHRNA3	1136	broad.mit.edu	37	15	78913068	78913070	+	In_Frame_Del	DEL	CAG	CAG	-	rs60706203|rs66793222|rs143833222		TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr15:78913068_78913070delCAG	ENST00000326828.5	-	1	451_453	c.67_69delCTG	c.(67-69)ctgdel	p.L23del	CHRNA3_ENST00000559941.1_5'Flank|CHRNA3_ENST00000348639.3_In_Frame_Del_p.L23del	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	23			Missing. {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:8906617, ECO:0000269|PubMed:9009220, ECO:0000269|PubMed:9921897}.		activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane potential (GO:0042391)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18					Bupropion(DB01156)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)|Varenicline(DB01273)	gcagcagagacagcagcagcagc	0.768																																						uc002bec.2		NaN																	0				central_nervous_system(3)|ovary(1)	4						c.(67-69)CTGdel		cholinergic receptor, nicotinic, alpha 3																																				SO:0001651	inframe_deletion	1136				activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr15:78913068_78913070delCAG		CCDS10305.1, CCDS53964.1	15q24	2012-02-11	2012-02-07		ENSG00000080644	ENSG00000080644		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1957	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 3 (neuronal)"""	118503	"""cholinergic receptor, nicotinic, alpha polypeptide 3"""			2004777	Standard	NM_000743		Approved		uc002bec.3	P32297	OTTHUMG00000143863	ENST00000326828.5:c.67_69delCTG	15.37:g.78913077_78913079delCAG	ENSP00000315602:p.Leu23del					CHRNA3_uc002bea.2_RNA|CHRNA3_uc002beb.2_In_Frame_Del_p.L23del	p.L23del	NM_000743	NP_000734	P32297	ACHA3_HUMAN			1	253_255	-			23		Missing.			Q15823|Q4KMN8|Q86U77|Q96RH3|Q99553|Q9BQ93|Q9BRR4	In_Frame_Del	DEL	ENST00000326828.5	37	c.67_69delCTG	CCDS10305.1																																																																																				0.768	CHRNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290111.3				4	5	NaN	NaN	NaN	NaN	NaN	4	5	---	---
ZNF598	90850	broad.mit.edu	37	16	2049883	2049885	+	In_Frame_Del	DEL	TCC	TCC	-	rs377495742|rs370831505		TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr16:2049883_2049885delTCC	ENST00000563630.1	-	9	1742_1744	c.1500_1502delGGA	c.(1498-1503)gaggac>gac	p.E500del	ZNF598_ENST00000431526.1_In_Frame_Del_p.E555del|ZNF598_ENST00000562103.1_In_Frame_Del_p.E500del|AC005606.15_ENST00000567515.1_lincRNA			Q86UK7	ZN598_HUMAN	zinc finger protein 598	555							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E555_D556insE(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						CGGGCCGCCGTCCTCCTCCTCCT	0.709																																						uc002cof.1		NaN																	1	Insertion - In frame(1)		kidney(1)	lung(1)|breast(1)	2						c.(1663-1668)GAGGAC>GAC		zinc finger protein 598				28,48,139,3521		3,0,0,22,1,0,46,15,109,1672						-7.6	0.0		dbSNP_134	10	46,7,1266,6519		8,0,1,29,1,1,4,158,948,2769	no	codingComplex	ZNF598	NM_178167.2		11,0,1,51,2,1,50,173,1057,4441	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		16.8283,5.7548,13.2538				74,55,1405,10040				SO:0001651	inframe_deletion	90850					intracellular	zinc ion binding	g.chr16:2049883_2049885delTCC	BC029270		16p13.3	2008-05-02				ENSG00000167962		"""Zinc fingers, C2H2-type"""	28079	protein-coding gene	gene with protein product							Standard	NM_178167		Approved	FLJ00086	uc002cof.2	Q86UK7		ENST00000563630.1:c.1500_1502delGGA	16.37:g.2049892_2049894delTCC	ENSP00000455882:p.Glu500del					ZNF598_uc002coe.1_5'UTR	p.E555del	NM_178167	NP_835461	Q86UK7	ZN598_HUMAN			11	1680_1682	-			555					Q8IW49|Q8N3D9|Q96FG3|Q9H7J3	In_Frame_Del	DEL	ENST00000563630.1	37	c.1665_1667delGGA																																																																																					0.709	ZNF598-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000434439.1		NM_178167		4	6	NaN	NaN	NaN	NaN	NaN	4	6	---	---
ABCA3	21	broad.mit.edu	37	16	2369649	2369651	+	In_Frame_Del	DEL	AGC	AGC	-	rs145342500		TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr16:2369649_2369651delAGC	ENST00000301732.5	-	8	1504_1506	c.804_806delGCT	c.(802-807)ctgctc>ctc	p.268_269LL>L	ABCA3_ENST00000382381.3_In_Frame_Del_p.268_269LL>L	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	268					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	GGTGAAGCTGAGCAGCAGCAGCA	0.611																																						uc002cpy.1		NaN																	0				breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16						c.(802-807)CTGCTC>CTC		ATP-binding cassette, sub-family A member 3																																				SO:0001651	inframe_deletion	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2369649_2369651delAGC	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.804_806delGCT	16.37:g.2369658_2369660delAGC	ENSP00000301732:p.Leu269del					ABCA3_uc010bsk.1_In_Frame_Del_p.268_269LL>L|ABCA3_uc010bsl.1_In_Frame_Del_p.268_269LL>L	p.268_269LL>L	NM_001089	NP_001080	Q99758	ABCA3_HUMAN			8	1516_1518	-		Ovarian(90;0.17)	268_269			Helical; (Potential).		B2RU09|Q54A95|Q6P5P9|Q92473	In_Frame_Del	DEL	ENST00000301732.5	37	c.804_806delGCT	CCDS10466.1																																																																																				0.611	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2		NM_001089		9	367	NaN	NaN	NaN	NaN	NaN	9	367	---	---
IL27	246778	broad.mit.edu	37	16	28518125	28518126	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr16:28518125_28518126insC	ENST00000356897.1	-	1	29_30	c.7_8insG	c.(7-9)cagfs	p.Q3fs		NM_145659.3	NP_663634.2	Q8TAD2	IL17D_HUMAN	interleukin 27	0					inflammatory response (GO:0006954)	extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						GCCTGCCGTCTGGCCCATGGCG	0.629																																						uc002dqc.2		NaN																	0					0						c.(7-9)CAGfs		interleukin 27 precursor																																				SO:0001589	frameshift_variant	246778				inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding	g.chr16:28518125_28518126insC	AY099296	CCDS10633.1	16p11	2011-07-21	2003-12-17	2003-12-19	ENSG00000197272	ENSG00000197272		"""Interleukins and interleukin receptors"""	19157	protein-coding gene	gene with protein product		608273	"""interleukin 30"""	IL30		12121660	Standard	NM_145659		Approved	IL-27, p28, IL27p28, IL-27A, IL27A, MGC71873	uc002dqc.3	Q8NEV9	OTTHUMG00000097023	ENST00000356897.1:c.7_8insG	16.37:g.28518125_28518126insC	ENSP00000349365:p.Gln3fs					uc010vct.1_Intron	p.Q3fs	NM_145659	NP_663634	Q8NEV9	IL27A_HUMAN			1	30_31	-			3					B1AM69	Frame_Shift_Ins	INS	ENST00000356897.1	37	c.7_8insG	CCDS10633.1																																																																																				0.629	IL27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214114.1		NM_145659		40	119	NaN	NaN	NaN	NaN	NaN	40	119	---	---
SEPT1	1731	broad.mit.edu	37	16	30390387	30390388	+	Frame_Shift_Ins	INS	-	-	AGCG			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr16:30390387_30390388insAGCG	ENST00000571393.1	-	10	1063_1064	c.877_878insCGCT	c.(877-879)tgcfs	p.C293fs	SEPT1_ENST00000321367.3_Frame_Shift_Ins_p.C340fs|SEPT1_ENST00000605106.1_Frame_Shift_Ins_p.C298fs			Q8WYJ6	SEPT1_HUMAN	septin 1	293	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			GCTCTGTAGGCAGCGGGCCCGG	0.658																																						uc002dxy.2		NaN																	0				ovary(1)	1						c.(877-879)TGCfs		septin 1																																				SO:0001589	frameshift_variant	1731				cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding	g.chr16:30390387_30390388insAGCG	AF308288	CCDS10678.1, CCDS10678.2, CCDS10678.3	16p11.2	2013-01-21		2001-09-10	ENSG00000180096	ENSG00000180096	3.1.5.1	"""Septins"""	2879	protein-coding gene	gene with protein product		612897		DIFF6		8697812	Standard	NM_052838		Approved	PNUTL3	uc002dxy.4	Q8WYJ6	OTTHUMG00000176984	ENST00000571393.1:c.874_877dupCGCT	16.37:g.30390388_30390391dupAGCG	ENSP00000460441:p.Cys293fs					SEPT1_uc002dxw.2_5'Flank|SEPT1_uc002dxx.2_Frame_Shift_Ins_p.C118fs	p.C293fs	NM_052838	NP_443070	Q8WYJ6	SEPT1_HUMAN	Colorectal(24;0.193)		10	1064_1065	-			293					B4DVE6|Q658T1|Q8NEZ1|Q96EL4|Q9H285	Frame_Shift_Ins	INS	ENST00000571393.1	37	c.877_878insCGCT																																																																																					0.658	SEPT1-201	KNOWN	basic	protein_coding	protein_coding			NM_052838		65	108	NaN	NaN	NaN	NaN	NaN	65	108	---	---
NOTCH3	4854	broad.mit.edu	37	19	15290217	15290223	+	Frame_Shift_Del	DEL	GGTCAAT	GGTCAAT	-			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr19:15290217_15290223delGGTCAAT	ENST00000263388.2	-	21	3487_3493	c.3412_3418delATTGACC	c.(3412-3420)attgacctcfs	p.IDL1138fs		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1138	EGF-like 29; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CGGGCCACGAGGTCAATGCATGAACCC	0.594																																						uc002nan.2		NaN																	0				lung(8)|ovary(5)|skin(4)|prostate(2)|central_nervous_system(1)|breast(1)	21						c.(3412-3420)ATTGACCTCfs		Notch homolog 3 precursor																																				SO:0001589	frameshift_variant	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15290217_15290223delGGTCAAT	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.3412_3418delATTGACC	19.37:g.15290217_15290223delGGTCAAT	ENSP00000263388:p.Ile1138fs					NOTCH3_uc002nao.1_Frame_Shift_Del_p.I1086fs	p.I1138fs	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		21	3488_3494	-			1138_1140			Extracellular (Potential).|EGF-like 29; calcium-binding (Potential).		Q9UEB3|Q9UPL3|Q9Y6L8	Frame_Shift_Del	DEL	ENST00000263388.2	37	c.3412_3418delATTGACC	CCDS12326.1																																																																																				0.594	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1		NM_000435		63	111	NaN	NaN	NaN	NaN	NaN	63	111	---	---
ESPNL	339768	broad.mit.edu	37	2	239039530	239039530	+	Frame_Shift_Del	DEL	G	G	-	rs115923307	byFrequency	TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr2:239039530delG	ENST00000343063.3	+	9	2438	c.2175delG	c.(2173-2175)gcgfs	p.A725fs	ESPNL_ENST00000409169.1_Frame_Shift_Del_p.A681fs|ESPNL_ENST00000409506.1_Frame_Shift_Del_p.A357fs|ESPNL_ENST00000477241.1_3'UTR	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	725										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CATCAGAGGCGGGTGCCGCAG	0.682																																						uc002vxq.3		NaN																	0				pancreas(1)	1						c.(2173-2175)GCGfs		espin-like							3.0	5.0	4.0					2																	239039530		1902	3867	5769	SO:0001589	frameshift_variant	339768							g.chr2:239039530delG	AK124559	CCDS2525.1	2q37.3	2013-01-10			ENSG00000144488	ENSG00000144488		"""Ankyrin repeat domain containing"""	27937	protein-coding gene	gene with protein product						12975309	Standard	NM_194312		Approved	FLJ42568	uc002vxq.4	Q6ZVH7	OTTHUMG00000133335	ENST00000343063.3:c.2175delG	2.37:g.239039530delG	ENSP00000339115:p.Ala725fs					ESPNL_uc010fyw.2_Frame_Shift_Del_p.A421fs	p.A725fs	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)	9	2285	+		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	725					Q66K27|Q6ZVG1|Q8IVU2	Frame_Shift_Del	DEL	ENST00000343063.3	37	c.2175delG	CCDS2525.1																																																																																				0.682	ESPNL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257164.2		NM_194312		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
LAMA5	3911	broad.mit.edu	37	20	60895697	60895698	+	Frame_Shift_Ins	INS	-	-	G	rs2297587|rs200954467	byFrequency	TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr20:60895697_60895698insG	ENST00000252999.3	-	50	6742_6743	c.6676_6677insC	c.(6676-6678)cgcfs	p.R2226fs		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2226	Domain II and I.		R -> H (in dbSNP:rs2297587).		angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CGTCTCATGGCGGGGGCCCAGG	0.708																																						uc002ycq.2		NaN																	0				ovary(1)|pancreas(1)|skin(1)	3						c.(6676-6678)CGCfs		laminin alpha 5 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)																																			SO:0001589	frameshift_variant	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60895697_60895698insG	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.6677dupC	20.37:g.60895702_60895702dupG	ENSP00000252999:p.Arg2226fs						p.R2226fs	NM_005560	NP_005551	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		50	6743_6744	-	Breast(26;1.57e-08)		2226			Domain II and I.		Q8TDF8|Q8WZA7|Q9H1P1	Frame_Shift_Ins	INS	ENST00000252999.3	37	c.6676_6677insC	CCDS33502.1																																																																																				0.708	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2		NM_005560		10	55	NaN	NaN	NaN	NaN	NaN	10	55	---	---
PDE5A	8654	broad.mit.edu	37	4	120446823	120446823	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr4:120446823delG	ENST00000354960.3	-	12	1979	c.1660delC	c.(1660-1662)cttfs	p.L554fs	PDE5A_ENST00000512739.1_5'UTR|RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000394439.1_Frame_Shift_Del_p.L502fs|PDE5A_ENST00000264805.5_Frame_Shift_Del_p.L512fs	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	554					blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	GTAATTTTAAGGGTCTGGGCA	0.408																																						uc003idh.2		NaN																	0					0						c.(1660-1662)CTTfs		phosphodiesterase 5A isoform 1	Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)						111.0	106.0	108.0					4																	120446823		2203	4300	6503	SO:0001589	frameshift_variant	8654				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding	g.chr4:120446823delG	D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"""Phosphodiesterases"""	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.1660delC	4.37:g.120446823delG	ENSP00000347046:p.Leu554fs					uc003ide.3_Intron|PDE5A_uc003idf.2_Frame_Shift_Del_p.L512fs|PDE5A_uc003idg.2_Frame_Shift_Del_p.L502fs|uc003idi.3_Intron	p.L554fs	NM_001083	NP_001074	O76074	PDE5A_HUMAN			12	1815	-			554					A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Frame_Shift_Del	DEL	ENST00000354960.3	37	c.1660delC	CCDS3713.1																																																																																				0.408	PDE5A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256529.1		NM_001083		15	47	NaN	NaN	NaN	NaN	NaN	15	47	---	---
MAP3K7	6885	broad.mit.edu	37	6	91296568	91296570	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:91296568_91296570delGAG	ENST00000369329.3	-	1	194_196	c.33_35delCTC	c.(31-36)tcctcg>tcg	p.11_12SS>S	MAP3K7_ENST00000369325.3_In_Frame_Del_p.11_12SS>S|MAP3K7_ENST00000369327.3_In_Frame_Del_p.11_12SS>S|MAP3K7_ENST00000369332.3_In_Frame_Del_p.11_12SS>S	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	11	Interaction with MAPK8IP1. {ECO:0000250}.|Poly-Ser.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone H3 acetylation (GO:0043966)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of ripoptosome assembly involved in necroptotic process (GO:1902443)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|regulation of reactive oxygen species metabolic process (GO:2000377)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		GGCCGAAGACGAGGAGGAGGAGG	0.655																																						uc003pnz.1		NaN																	0				ovary(2)|lung(2)|upper_aerodigestive_tract(1)|stomach(1)	6						c.(31-36)TCCTCG>TCG		mitogen-activated protein kinase kinase kinase 7																																				SO:0001651	inframe_deletion	6885				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding|protein binding	g.chr6:91296568_91296570delGAG	AB009356	CCDS5027.1, CCDS5028.1, CCDS5029.1, CCDS5030.1	6q15	2011-06-09			ENSG00000135341	ENSG00000135341		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6859	protein-coding gene	gene with protein product		602614		TAK1		9466656	Standard	NM_003188		Approved	MEKK7	uc003pnz.2	O43318	OTTHUMG00000015217	ENST00000369329.3:c.33_35delCTC	6.37:g.91296577_91296579delGAG	ENSP00000358335:p.Ser14del					MAP3K7_uc003poa.1_In_Frame_Del_p.11_12SS>S|MAP3K7_uc003pob.1_In_Frame_Del_p.11_12SS>S|MAP3K7_uc003poc.1_In_Frame_Del_p.11_12SS>S	p.11_12SS>S	NM_145331	NP_663304	O43318	M3K7_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)	1	195_197	-		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)	11_12			Poly-Ser.		B2RE27|E1P523|O43317|O43319|Q5TDN2|Q5TDN3|Q5TDT7|Q9NTR3|Q9NZ70	In_Frame_Del	DEL	ENST00000369329.3	37	c.33_35delCTC	CCDS5028.1																																																																																				0.655	MAP3K7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041530.1		NM_145331		9	99	NaN	NaN	NaN	NaN	NaN	9	99	---	---
SMPD2	6610	broad.mit.edu	37	6	109765030	109765042	+	Frame_Shift_Del	DEL	GGCCCAGGATCTG	GGCCCAGGATCTG	-	rs527648546|rs374708897		TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:109765030_109765042delGGCCCAGGATCTG	ENST00000258052.3	+	10	1553_1565	c.1194_1206delGGCCCAGGATCTG	c.(1192-1206)gaggcccaggatctgfs	p.EAQDL398fs	PPIL6_ENST00000424445.2_5'Flank|PPIL6_ENST00000521072.2_5'Flank|PPIL6_ENST00000440797.2_5'Flank	NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)	398					apoptotic signaling pathway (GO:0097190)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|neurotrophin TRK receptor signaling pathway (GO:0048011)|response to mechanical stimulus (GO:0009612)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin metabolic process (GO:0006684)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		GGGCAAGGGAGGCCCAGGATCTGGGCCCAGAGC	0.568																																						uc003pti.2		NaN																	0					0						c.(1192-1206)GAGGCCCAGGATCTGfs		sphingomyelin phosphodiesterase 2, neutral																																				SO:0001589	frameshift_variant	6610				induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process	integral to plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity	g.chr6:109765030_109765042delGGCCCAGGATCTG	AJ222801	CCDS5075.1	6q21	2009-10-23			ENSG00000135587	ENSG00000135587	3.1.4.12		11121	protein-coding gene	gene with protein product		603498				9520418	Standard	XM_005267109		Approved	nSMase, ISC1	uc003pti.3	O60906	OTTHUMG00000015348	ENST00000258052.3:c.1194_1206delGGCCCAGGATCTG	6.37:g.109765030_109765042delGGCCCAGGATCTG	ENSP00000258052:p.Glu398fs						p.E398fs	NM_003080	NP_003071	O60906	NSMA_HUMAN		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)	10	1588_1600	+		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)	398_402					Q5TED1|Q9BWR3	Frame_Shift_Del	DEL	ENST00000258052.3	37	c.1194_1206delGGCCCAGGATCTG	CCDS5075.1																																																																																				0.568	SMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041755.1				9	72	NaN	NaN	NaN	NaN	NaN	9	72	---	---
GRM1	2911	broad.mit.edu	37	6	146755399	146755401	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:146755399_146755401delCAG	ENST00000282753.1	+	8	3287_3289	c.3052_3054delCAG	c.(3052-3054)cagdel	p.Q1022del	GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000361719.2_In_Frame_Del_p.Q1022del|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000492807.2_3'UTR			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1022	Gln/Pro-rich.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CCCTCCTCTCCAGCAGCAGCAGC	0.66																																						uc010khw.1		NaN																	0				lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2)	19						c.(3052-3054)CAGdel		glutamate receptor, metabotropic 1 isoform alpha	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)																																			SO:0001651	inframe_deletion	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146755399_146755401delCAG	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.3052_3054delCAG	6.37:g.146755408_146755410delCAG	ENSP00000282753:p.Gln1022del					GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	p.Q1022del	NM_000838	NP_000829	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	9	3522_3524	+		Ovarian(120;0.0387)	1022			Gln/Pro-rich.|Cytoplasmic (Potential).		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	In_Frame_Del	DEL	ENST00000282753.1	37	c.3052_3054delCAG	CCDS5209.1																																																																																				0.660	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1		NM_000838		11	471	NaN	NaN	NaN	NaN	NaN	11	471	---	---
EZR	7430	broad.mit.edu	37	6	159188477	159188477	+	Frame_Shift_Del	DEL	G	G	-	rs139613796	byFrequency	TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr6:159188477delG	ENST00000367075.3	-	13	1580	c.1412delC	c.(1411-1413)ccgfs	p.P476fs	EZR_ENST00000337147.7_Frame_Shift_Del_p.P476fs|EZR_ENST00000392177.4_Frame_Shift_Del_p.P444fs|MIR3918_ENST00000581555.1_RNA	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	476	Interaction with SCYL3.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of endothelial barrier (GO:0061028)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|filopodium assembly (GO:0046847)|leukocyte cell-cell adhesion (GO:0007159)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|receptor internalization (GO:0031623)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|astrocyte projection (GO:0097449)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell tip (GO:0051286)|ciliary basal body (GO:0036064)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|microspike (GO:0044393)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|Schwann cell microvillus (GO:0097454)|T-tubule (GO:0030315)|uropod (GO:0001931)|vesicle (GO:0031982)	actin filament binding (GO:0051015)|cell adhesion molecule binding (GO:0050839)|poly(A) RNA binding (GO:0044822)		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		TGGTGGGGGCGGGGGTGCTGT	0.597			T	ROS1	NSCLC																																	uc003qrt.3		NaN		Dom	yes		6	6q25.3	7430		ezrin			E					0				ovary(1)	1						c.(1411-1413)CCGfs		ezrin							46.0	50.0	49.0					6																	159188477		2203	4300	6503	SO:0001589	frameshift_variant	7430				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding	g.chr6:159188477delG	AF187552	CCDS5258.1	6q25.3	2010-12-10	2007-11-29	2007-11-29	ENSG00000092820	ENSG00000092820		"""A-kinase anchor proteins"""	12691	protein-coding gene	gene with protein product	"""cytovillin 2"""	123900	"""villin 2 (ezrin)"""	VIL2			Standard	NM_003379		Approved		uc003qrt.4	P15311	OTTHUMG00000015917	ENST00000367075.3:c.1412delC	6.37:g.159188477delG	ENSP00000356042:p.Pro476fs					EZR_uc011efr.1_Frame_Shift_Del_p.P78fs|EZR_uc011efs.1_Frame_Shift_Del_p.P439fs|EZR_uc003qru.3_Frame_Shift_Del_p.P471fs	p.P471fs	NM_003379	NP_003370	P15311	EZRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)	12	1627	-		Breast(66;0.000776)|Ovarian(120;0.0303)	471			Interaction with SCYL3.		E1P5A8|P23714|Q4VX75|Q96CU8|Q9NSJ4	Frame_Shift_Del	DEL	ENST00000367075.3	37	c.1412delC	CCDS5258.1																																																																																				0.597	EZR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042878.1		NM_003379		56	196	NaN	NaN	NaN	NaN	NaN	56	196	---	---
RHBDD2	57414	broad.mit.edu	37	7	75513098	75513100	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr7:75513098_75513100delGAG	ENST00000006777.6	+	3	804_806	c.669_671delGAG	c.(667-672)atgagg>atg	p.R225del	RHBDD2_ENST00000468304.1_Intron|RHBDD2_ENST00000318622.4_In_Frame_Del_p.R84del|RHBDD2_ENST00000428119.1_In_Frame_Del_p.R84del	NM_001040456.1	NP_001035546.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2	225						Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|lung(4)|prostate(1)	6						TCAGCCTGATGAGGAGGATATCC	0.527																																						uc003udw.1		NaN																	0					0						c.(667-672)ATGAGG>ATG		rhomboid domain containing 2 isoform a																																				SO:0001651	inframe_deletion	57414					integral to membrane	serine-type endopeptidase activity	g.chr7:75513098_75513100delGAG	AF226732	CCDS43602.1, CCDS43603.1	7q11	2008-09-04	2006-02-22	2006-02-22	ENSG00000005486	ENSG00000005486			23082	protein-coding gene	gene with protein product		615203	"""rhomboid, veinlet-like 7 (Drosophila)"""	RHBDL7		12838346	Standard	XM_005250511		Approved	NPD007	uc003udw.1	Q6NTF9	OTTHUMG00000156435	ENST00000006777.6:c.669_671delGAG	7.37:g.75513101_75513103delGAG	ENSP00000006777:p.Arg225del					RHBDD2_uc003udv.1_In_Frame_Del_p.R84del	p.R225del	NM_001040456	NP_001035546	Q6NTF9	RHBD2_HUMAN			3	753_755	+			225					Q7L534|Q9H5W6|Q9HBK7|Q9UDT2	In_Frame_Del	DEL	ENST00000006777.6	37	c.669_671delGAG	CCDS43602.1																																																																																				0.527	RHBDD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344176.1		NM_020684		68	176	NaN	NaN	NaN	NaN	NaN	68	176	---	---
FAM86B1	85002	broad.mit.edu	37	8	12041205	12041205	+	Frame_Shift_Del	DEL	C	C	-	rs562886765	byFrequency	TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr8:12041205delC	ENST00000448228.2	-	7	850	c.801delG	c.(799-801)gggfs	p.G267fs	FAM86B1_ENST00000533852.2_Frame_Shift_Del_p.G301fs|AC145124.1_ENST00000579282.1_RNA|FAM86B1_ENST00000321602.8_Frame_Shift_Del_p.D121fs	NM_001083537.1	NP_001077006.1	Q8N7N1	F86B1_HUMAN	family with sequence similarity 86, member B1	267										kidney(1)|prostate(1)|stomach(1)	3			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.0965)		CCCATCTGATCCCATCCCGGC	0.552													ccc|CCC|CC|deletion	11	0.00219649	0.0068	0.0029	5008	,	,		21199	0.0		0.0	False		,,,				2504	0.0					uc010lse.2		NaN																	0					0						c.(799-801)GGGfs		hypothetical protein LOC85002				38,2610		4,30,1290	7.0	5.0	5.0			1.2	0.1	8		5	0,5352		0,0,2676	no	frameshift	FAM86B1	NM_001083537.1		4,30,3966	A1A1,A1R,RR		0.0,1.435,0.475			12041205	38,7962	1820	3866	5686	SO:0001589	frameshift_variant	85002							g.chr8:12041205delC	BC007983	CCDS59512.1	8p23.1	2014-02-12	2005-08-19		ENSG00000186523	ENSG00000186523			28268	protein-coding gene	gene with protein product						12477932	Standard	NM_001083537		Approved	MGC16279	uc010lse.3	Q8N7N1	OTTHUMG00000165298	ENST00000448228.2:c.801delG	8.37:g.12041205delC	ENSP00000407067:p.Gly267fs					FAM66D_uc011kxp.1_Intron|FAM86B1_uc003wvf.3_RNA|FAM86B1_uc003wvi.3_Frame_Shift_Del_p.D121fs|FAM86B1_uc010lsd.2_RNA|FAM86B1_uc003wvh.3_Frame_Shift_Del_p.G110fs|FAM86B1_uc011kxq.1_Frame_Shift_Del_p.D121fs|FAM86B1_uc010lsf.2_Frame_Shift_Del_p.G110fs|FAM86B1_uc003wvj.3_Frame_Shift_Del_p.G201fs|FAM86B1_uc003wvk.3_Frame_Shift_Del_p.G301fs|FAM86B1_uc010lsg.2_RNA|FAM86B1_uc003wvl.3_RNA	p.G267fs	NM_001083537	NP_001077006	Q8N7N1	F86B1_HUMAN	STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.0965)	7	846	-			267						Frame_Shift_Del	DEL	ENST00000448228.2	37	c.801delG	CCDS59512.1																																																																																				0.552	FAM86B1-016	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000383317.1		NM_032916		4	2	NaN	NaN	NaN	NaN	NaN	4	2	---	---
SLC46A2	57864	broad.mit.edu	37	9	115652137	115652137	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr9:115652137delT	ENST00000374228.4	-	1	1056	c.825delA	c.(823-825)aaafs	p.K275fs		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	275					negative regulation of T cell apoptotic process (GO:0070233)|regulation of T cell differentiation (GO:0045580)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						GGGGTTTTGCTTTTCCAGGAG	0.537																																						uc004bgk.2		NaN																	0				central_nervous_system(1)	1						c.(823-825)AAAfs		solute carrier family 46, member 2							115.0	113.0	114.0					9																	115652137		2203	4300	6503	SO:0001589	frameshift_variant	57864					integral to membrane|plasma membrane	symporter activity	g.chr9:115652137delT	AF242557	CCDS6786.1	9q32	2013-05-22	2007-03-29	2007-03-29	ENSG00000119457	ENSG00000119457		"""Solute carriers"""	16055	protein-coding gene	gene with protein product		608956	"""thymic stromal co-transporter"""	TSCOT		10978518, 12826694	Standard	NM_033051		Approved	Ly110	uc004bgk.3	Q9BY10	OTTHUMG00000020513	ENST00000374228.4:c.825delA	9.37:g.115652137delT	ENSP00000363345:p.Lys275fs						p.K275fs	NM_033051	NP_149040	Q9BY10	TSCOT_HUMAN			1	1057	-			275			Cytoplasmic (Potential).		B1ALK1|Q86VT0|Q96NE2	Frame_Shift_Del	DEL	ENST00000374228.4	37	c.825delA	CCDS6786.1																																																																																				0.537	SLC46A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053702.1		NM_033051		36	84	NaN	NaN	NaN	NaN	NaN	36	84	---	---
NOTCH1	4851	broad.mit.edu	37	9	139390945	139390947	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chr9:139390945_139390947delGTG	ENST00000277541.6	-	34	7319_7321	c.7244_7246delCAC	c.(7243-7248)ccacag>cag	p.P2415del		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2415	Poly-Pro.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q2417*(2)|p.P2416fs*11(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGGTGCGGCTGTGGTGGTGGTGG	0.65			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2		NaN		Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		3	Substitution - Nonsense(2)|Deletion - Frameshift(1)	p.Q2417*(1)	haematopoietic_and_lymphoid_tissue(3)	haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(7243-7248)CCACAG>CAG		notch1 preproprotein																																				SO:0001651	inframe_deletion	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139390945_139390947delGTG	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.7244_7246delCAC	9.37:g.139390954_139390956delGTG	ENSP00000277541:p.Pro2415del	HNSCC(8;0.001)					p.P2415del	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	34	7244_7246	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	2415			Cytoplasmic (Potential).|Poly-Pro.		Q59ED8|Q5SXM3	In_Frame_Del	DEL	ENST00000277541.6	37	c.7244_7246delCAC	CCDS43905.1																																																																																				0.650	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1		NM_017617		8	157	NaN	NaN	NaN	NaN	NaN	8	157	---	---
TAF9B	51616	broad.mit.edu	37	X	77387128	77387139	+	In_Frame_Del	DEL	ATCATCTTCATG	ATCATCTTCATG	-			TCGA-FD-A3N5-01A-11D-A21A-08	TCGA-FD-A3N5-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	418a3dec-96ff-4719-becb-e1a8260cce2f	8aee029e-9da1-4714-933a-7613313dd998	g.chrX:77387128_77387139delATCATCTTCATG	ENST00000341864.5	-	7	818_829	c.724_735delCATGAAGATGAT	c.(724-735)catgaagatgatdel	p.HEDD242del		NM_015975.4	NP_057059.2	Q9HBM6	TAF9B_HUMAN	TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa	242					DNA-templated transcription, initiation (GO:0006352)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell growth (GO:0030307)|programmed cell death (GO:0012501)|protein stabilization (GO:0050821)|response to organic cyclic compound (GO:0014070)	transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	transcription corepressor activity (GO:0003714)	p.H242Q(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	14						CATTGTCATCATCATCTTCATGTTTTCTCTTC	0.354																																						uc004eda.2		NaN																	1	Substitution - Missense(1)		lung(1)		0						c.(724-735)CATGAAGATGATdel		transcription associated factor 9B																																				SO:0001651	inframe_deletion	51616				negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent	transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding	g.chrX:77387128_77387139delATCATCTTCATG	AF220509	CCDS35340.1	Xq13.1-q21.1	2010-08-16	2006-01-04	2006-01-04	ENSG00000187325	ENSG00000187325			17306	protein-coding gene	gene with protein product		300754	"""TAF9-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa"""	TAF9L		15899866	Standard	XM_005262142		Approved	TAFII31L, DN-7, DN7, TFIID-31	uc004eda.3	Q9HBM6	OTTHUMG00000021887	ENST00000341864.5:c.724_735delCATGAAGATGAT	X.37:g.77387128_77387139delATCATCTTCATG	ENSP00000339917:p.His242_Asp245del						p.HEDD242del	NM_015975	NP_057059	Q9HBM6	TAF9B_HUMAN			7	795_806	-			242_245			Poly-Asp.		B2RUZ9|Q9Y2S3	In_Frame_Del	DEL	ENST00000341864.5	37	c.724_735delCATGAAGATGAT	CCDS35340.1																																																																																				0.354	TAF9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057308.1		NM_015975		19	11	NaN	NaN	NaN	NaN	NaN	19	11	---	---
